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{
"age": 75,
"case_id": "PMC10720037_01",
"case_text": "Few cases have been reported, describing an improvement of co-morbid RLS as an incidental finding in patients treated with spinal cord stimulation (SCS) for chronic neuropathic pain (, see Table 1 for an overview).\nThe earliest report describes the case of a 75-year-old male patient with chronic lower back pain and severe RLS, who experienced a complete cessation of RLS symptoms 6 weeks after implantation of a spinal cord stimulator. The treatment effect remained stable during the 2-year follow-up.\nByrne et al. describe three patients who received an epidural SCS for lumbar and neuropathic leg pain (Failed Back Surgery Syndrome, FBSS), who also suffered from co-morbid RLS. One patient experienced a drastic decrease of symptom severity, while the other two only experienced a mild/moderate improvement during the 3-9 months follow-up period.\nAdil et al. report other three similar cases of lower-back and lower extremity pain treated with SCS showing an almost complete disappearance of concomitant RLS, with a follow-up ranging from 2 to 40 months. In the same year, De Vloo et al. describe the first case of SCS implanted in a young patient with the primary aim to control a severe, refractory form of RLS, with an overall good clinical outcome.\nWhile all the above cases demonstrate a good efficacy of SCS on self-rated RLS symptoms, objective, polysomnographic data on sleep structure and PLMS are not reported.\nData from systematic reviews and meta-analyses suggest large, clinically relevant placebo effects on self-rated outcomes with, however, small to absent placebo effects on objective parameters, especially PLMS.",
"gender": "Male"
}
] |
PMC10720037
|
[
{
"age": 4,
"case_id": "PMC11150795_01",
"case_text": "A 4-year-old castrated male beagle weighing 11 kg underwent routine medical screening. The patient had no history of diseases other than chronic otitis externa and no clinical signs indicative of cardiovascular diseases. On physical examination, no abnormalities were observed (temperature, 38 C; heart rate, 110 beats/min; and systolic blood pressure, 150 mmHg); however, a mild right-sided basal continuous murmur of grades 1-2 was noted. Laboratory examinations revealed mildly elevated alanine aminotransferase levels. Thoracic radiography (HF-525 PLUS, ECORAY, Seoul, Korea; kVP 70, mA 200, exposure time 0.03 s) was performed, which revealed an increased vertebral heart score of 11.7 (reference range, 8.7-10.7) and a sternal contact of 3.5 (reference range, 2.5-3.0) on the right lateral view. Generalized cardiomegaly and a slight bulge at the 1-3 o'clock of the cardiac silhouette were identified in the ventrodorsal view. The diameters of the caudal vena cava and pulmonary vessels were within normal ranges.\nTwo-dimensional transthoracic echocardiographic examination was performed using a 5-MHz 72 phased array transducer (Aplio 300; Canon Medical System, Europe B.V., Zoetermeer, 73 Netherlands), which revealed the following measurements: left ventricular end-diastolic internal diameter corrected for body weight (LVIDDn), 1.74 (upper limit; <1.7); left ventricular end-systolic internal diameter corrected for body weight (LVIDSn), 1.14 (reference range, 0.74-1.33); end-diastolic volume index (EDVI), 103.11 (upper limit;>100); end-systolic volume index (ESVI), 40.87 (lower limit;<30). These measurements were calculated using the Teichholz method. Additionally, the following were noted: E peak velocity, 91.3 cm/s, 58-117cm/s.; E/E', 10.49 (reference range, 7.3-9.5); and LA:Ao, 0.97 (upper limit <1.6). Collectively, these observations suggested mild left ventricular eccentric hypertrophy. No significant mitral, tricuspid, aortic, or pulmonic regurgitations were observed. From the right parasternal short axis pulmonary artery view, a continuous L-to-R turbulent shunt flow distal to the right pulmonary artery (RPA) showing a mosaic pattern was identified on color Doppler, with a peak velocity of 4.18 m/s and a pressure gradient of 69.89 mmHg on continuous wave Doppler (Figures 1A,B). However, the orifice of the shunt at the typical location of the PDA or the orientation of the shunt could not be identified on echocardiography.\nCT (Alexion, TSX-034A, Toshiba Medical Systems, Tochigi, Japan) was performed to further assess the orientation and anatomical features of the suspected shunting vessel. The CT scan was performed under general anesthesia induced using butorphanol 0.2 mg/kg (Butophan; Myungmoon Pharm Co., Ltd., Seoul, Korea) and propofol 6 mg/kg (MCT/LCT 1%, Freefol-MCT; Daewon Pharm Co., Ltd., Seoul, Korea) and maintained with 1.5% isoflurane (Isoflurane; Hana Pharm Co., Ltd., Hwaseong, Korea). The CT parameters were as follows: helical scan mode, 100 kVp, 150 mA, 256 x 256 matrix, rotation time of 0.75 s, and slice thickness of 1 mm. Pre- and post-contrast CT images were acquired. For the contrast medium, 900 mg iodine/kg of iohexol in a total volume of 28 mL (Omnipaque, GE Healthcare, United States) was injected intravenously at a rate of 3 mL/s using a power injector. Post-contrast CT scans were performed when the ascending aorta started to show contrast enhancement and 120 s after the first injection.\nCT tomography revealed multiple L-to-R shunts (Figure 2). The first shunt (shunt 1) identified was a tortuous vessel originating from the brachiocephalic trunk that ran caudally and anastomosed with the peritracheal network (Figures 2E,G). The second shunt (shunt 2) was caudal to the first one, originated from the thoracic descending aorta at the T8 level, and formed tortuous vessels that eventually connected to the periesophageal network (Figures 2A,B,F). Regarding the third shunt (shunt 3), the vessels arising from the right fifth and sixth dorsal intercostal arteries joined and formed a tortuous shunting vessel that ran cranially and connected to the peritracheal network (Figures 2B-D,F,G). These three shunts were connected to either the peritracheal or periesophageal dense network and eventually anastomosed to a large tortuous vessel connected to the RPA. The measured size of the orifice was 4.1 mm at insertion (Figures 2D,G).\nAfter imaging, the shunts were surgically ligated. Midazolam 0.2 mg/kg (Midazolam, Bukwang Pharm Co., Seoul, Korea) and butorphanol 0.2 mg/kg (Butophan, Myungmoon Pharm Co., Seoul, Korea) were administered intravenously. Intravenous cefazolin 25 mg/kg (cefazolin sodium, Korus Pharm Co., Chuncheon, Korea) was administered as premedication, and general anesthesia was induced with intravenous propofol 6 mg/kg (Provive 1%; Myungmoon Pharm Co., Seoul, Korea) and maintained with sevoflurane (Sevofran, Hana Pharm Co., Seoul, Korea). The dog was positioned in left lateral recumbency, and the right thorax was prepared for aseptic surgery. An intercostal thoracotomy was performed at the 5th right intercostal space, and a shunt entering the right pulmonary artery branch was identified (Figure 3A). The shunt was bluntly separated and ligated using a surgical clip (Hemoclip, Teleflex, Pennsylvania, USA) and 5-0 polypropylene (PROLENE, Ethicon, New Jersey, USA) (Figures 3B,C). Next, the shunts connected to the brachiocephalic trunk and the right 5th-6th dorsal intercostal arteries supplying the periesophageal network were identified, and ligation was performed (Figures 3D-F). Sutures were performed using a routine method, and the dog recovered from anesthesia without any complications. For postoperative analgesia, butorphanol-lidocaine-ketamine was administered (butorphanol at a dosage of 0.02 mg/kg/h, lidocaine [lidocaine hydrochloride, Jeil Pharm Co., Daegu, Korea] at a dosage of 1.5 mg/kg/h, and ketamine [ketamine hydrochloride, Yuhan Corp., Seoul, Korea] at a dosage of 0.6 mg/kg/h) via constant rate infusion.\nFollow-up echocardiography and CT were performed at 3 weeks and 12 weeks postoperatively. On postoperative echocardiography at 3 weeks and 12 weeks after surgical ligation, no residual shunting of the right pulmonary artery was observed (Figures 1C,D). Additionally, echocardiographic parameters showed a diminution of the left ventricular volume overload (preoperative LVIDDn 1.74 to postoperative LVIDDn 1.46; preoperative EDVI 103.11 to postoperative EDVI 67.41). Moreover, decreases in E peak velocity from 91.3 cm/s to 44.70 cm/s, and E/E' from 10.49 to 6.67 cm/s were observed, which indicated a decrease in left atrial pressure. CT at 3 weeks postoperatively showed no residual enhancement caudal to the ligation site of shunt 1 originating from the brachiocephalic trunk or shunt 2 originating from the descending aorta. Shunt 3 originating from the fifth and sixth right dorsal intercostal arteries, showed no cranial or caudal residual flow to the clip at the two ligation sites; however, mild residual enhancement of the vessel connected to the peritracheal network was observed. The shunting vessel anastomosed from the three shunts and the peritracheal-periesophageal network were observed; however, no connection between the aorta and the RPA was identified (Figure 4). No remarkable changes or aneurysms were observed on the follow-up CT at 12 weeks postoperatively.",
"gender": "Male"
}
] |
PMC11150795
|
[
{
"age": 47,
"case_id": "PMC10499274_01",
"case_text": "A 47-year-old male patient presented with a chief complaint of inability to close the mouth for nine months with a history of trauma nine months ago wherein he was diagnosed with traumatic brain injury with extradural haemorrhage. His Glasgow Coma Scale (GCS) rating was E1V1M2 immediately after the accident. The patient was operated for the same and was in a comatose state with tracheostomy support thereafter. The patient's attendant gives a history of noticing inability to close his mouth since the time of accident, which leads to protracted dislocation of the TMJ.\nOn examination - GCS of E4VTM5 is noticed. The patient was malnourished and was on percutaneous endoscopic gastrostomy (PEG) to enable nutritional support. The patient was unable to close his mouth with an anterior open bite of 28 mm, bilateral pre-auricular hollowing and deranged occlusion [Figure 1]. A provisional diagnosis of long-standing bilateral TMJ dislocation was given and a computed tomography scan [Figure 2] confirmed the diagnosis. Conservative methods such as manual closed reduction of the TMJ were attempted under local anaesthesia and muscle relaxants but were unsuccessful. Other modalities, such as guiding bite blocks, elastic traction, extraoral caps and splints, were not thought to be advisable as it is a case of traumatic brain injury and he is not compliant to commands and fear of aspiration. Although minimally invasive technique such as arthroscopy is available, it was not preferred due to patient-related factors and economic constraints. The line of treatment chosen by us was aimed at facilitating mandibular movements and further removal of PEG.\nUnder general anaesthesia (GA), arch bars were placed on both arches to enable post-operative manipulation of the mandible. A further attempt to reduce the dislocation under GA was unsuccessful. Using a pre-auricular incision, bilateral eminectomy was planned and performed, but mouth closure was not satisfactory due to the chronic nature of dislocation. Hence, bilateral condylectomy was performed at the level of the condylar neck to prevent recurrent dislocation and to allow free movement of the lower jaw [Figure 3]. Apertognathia resolved, and occlusion was achieved with good occlusal interdigitation [Figure 4]. Mandibular movements and occlusion were assessed at this point and were found to be stable bilaterally. A tight layered closure was achieved using Vicryl 3-0 and Vicryl rapide 4-0. Intermaxillary fixation (IMF) was done intraoperatively. Postoperatively, the final position of the condylar neck was seen to be in line with the glenoid fossa [Figure 5], and complete movements of the mandible were observed.\nThe patient presented with palsy of the zygomatic branch of the facial nerve on the left side that resolved within a month with full function. A follow-up for eight weeks was done actively and is still on trimonthly follow-up. The IMF was released on the third post-operative day, and the patient was placed on intermaxillary elastics for two weeks. Mouth opening and closing exercises were explained to the patient's attendant, as patient compliance was poor. Decannulation of the tracheostomy was performed on the 10th day postoperatively. PEG was removed one month postoperatively. Mouth opening of 35 mm was achieved with angle class 1 occlusion. After two months, arch bars and elastics were removed with good results in the function of the mandible.\nSome of the complications related to the procedure performed involve - facial nerve weakness, shortening of ramal height, occlusal discrepancies, increased risk of infection, wound dehiscence and external scarring. Any facial nerve weakness noted immediately postoperatively was seen to resolve in the following month. As the volume of bone removed was minimal, the foreshortening of ramal height did not cause any physiological changes in the function. Occlusion settling due to intermaxillary elastics placement was done for two months.",
"gender": "Male"
}
] |
PMC10499274
|
[
{
"age": 69,
"case_id": "PMC11042475_01",
"case_text": "A 69-year-old male was transported to our hospital by ambulance following a heart attack, presenting with symptoms such as chest tightness, breathlessness, and vomiting of stomach contents. An emergency electrocardiogram (ECG) conducted en route revealed sinus rhythm with ST elevation in leads II, III, and AVF. Subsequent coronary angiography revealed coronary atherosclerotic heart disease, manifesting as double-vessel disease affecting the anterior descending artery and the right coronary artery (see Figure 1). The patient's blood test is shown in detail in Table 1. As per established diagnostic criteria, the patient was diagnosed with acute inferior myocardial infarction. Emergency intervention was conducted, involving stent implantation for the right posterior descending coronary artery and the right posterior lateral coronary artery. \nRemarkably, the patient's medical history revealed that this marked the third occurrence of such a procedure. The initial diagnosis of coronary atherosclerotic heart disease was made 16 years ago, leading to coronary stent implantation for myocardial infarction at the ages of 53 and 58, resulting in a total of 3 stents being implanted. Postoperatively, the patient consistently took enteric-coated aspirin tablets; however, this was later discontinued due to gastrointestinal bleeding. The patient, a long-term smoker of over 50 years averaging 30 cigarettes per day, reported no family history of genetic disease and no previous history of hypertension. Considering the potential risk of heart failure associated with myocardial infarction, our treatment plan included the administration of anti-heart failure medications, along with relevant genetic testing.\nPCR testing, in this case, utilized the TIANLONG TL 988 Real-Time PCR System along with Angiotensin Converting Enzyme (ACE) insertion/deletion (I/D) detection kit (Lot.HY221107, Wuxi Ruiqi Gene Biotechnology Co., Ltd.). The detection methodology involved the use of the PCR dissolution curve method, with the positive control DD type exhibiting a melting temperature (Tm) of 51.5 C, and the type II Tm measured at 58.5 C. The proband in this case exhibited ACE D/D genotype, as depicted by the dissolution peak curve illustrated in Figure 2. \nSanger sequencing revealed a C>A mutation at the 7th base preceding the I/D mutation point (see Figure 3). The identified mutation was cross-referenced and assessed through three distinct databases: dbSNP (http://www.ncbi.nlm.nih.gov/projects/SNP/), 1000 Genomes (http://www.1000genomes.org/), ExAC (http://exac.broadinstitute.org/), and gnomAD (http://gnomad.broadinstitute.org/). The mutation site was identified as rs577350502, positioned at chr17:63488533 (GRCh38.p14), and characterized as a single nucleotide variant (SNV). It is noteworthy that, since 2019, this mutation has only been documented in two patients in Japan, as recorded in the dbSNP database. However, detailed clinical descriptions of this mutation were not provided by the recorder. In this case, the advanced age of the proband made it impractical to trace the ACE genotype of his parents. Additionally, his wife and daughter declined to participate in genetic testing at our hospital. \nGiven the patient's ACE gene being of the D/D type, which could potentially influence the efficacy of ACE inhibitors (ACEI) and beta-receptor antagonists, the patient was administered spironolactone and furosemide instead of ACEI to alleviate cardiac workload. The patient responded positively to this alternative treatment regimen and was discharged with grade I cardiac function (Killip). Upon returning to our hospital two months later, the patient reported no significant discomfort.",
"gender": "Male"
}
] |
PMC11042475
|
[
{
"age": 2,
"case_id": "PMC11008678_01",
"case_text": "A 2-year-and-8-month-old toddler was admitted to the hospital for evaluation of chronic constipation attributed to long-standing low-fiber diet and poor therapeutic effect of prolonged lactulose use on softening stools. A heart murmur was noted on physical examination. The child had no relevant medical history or signs of infection, trauma, cold, or any other predisposing factors. Preoperative transthoracic echocardiography revealed a hyperechoic, approximately 32 mm by 16 mm mass in the posterior wall of the left ventricle (Figure 1A). In addition, an echogenic \"string of beads\" was observed wiggling in the left ventricular outflow tract, with one end connected to the posterior part of the left ventricle and the other end appearing to be connected to the left coronary sinus of the aorta (Figure 1B). The sizes of the four chambers were considered normal, and the ejection fraction was 63%. Interestingly, this child showed no clinical symptoms and results of coagulation assays, neutrophil, C-reactive protein, complete antinuclear antibody, antineutrophil cytoplasmic antibodies, and antistreptolysin O titer tests were all insignificant. A diagnosis of tumor, thrombus or vegetation was yet to be made.\nThough the child was generally doing well and hemodynamics stable, there remained a concerning risk that the string part may break off and result in embolism. After careful consideration and discussion in a multidisciplinary team, surgical excision was planned. During the procedure, an incision was made in posterior leaflet of the mitral valve to expose the mass. It was shown that part of the mass was like a string of beads (Figure 2A), while the other part was embedded in the posterior left ventricular wall, close to the posterolateral papillary muscle (Figure 2B). The mass was predominantly white, with an intact capsule and a tough texture. After successful removal of the mass, water injection test showed significant regurgitation of the mitral valve from anterior leaflet prolapse. Mitral valve repair was performed. The ascending aortotomy was performed to exclude any residual mass in the aorta, though there was no residual mass found. Postoperative transesophageal echocardiogram showed complete removal of the mass (Figure 1C) and competent mitral valve (Figure 1D). Subsequent histopathological analysis confirmed the mass as a cardiac fibroma with myxoid degeneration (Figure 3). The results of the immunohistochemical analysis of the heart tumor specimen was as follows: Ki-67(10%+), DES (+), SMA (+), CR (focal +), CD34 (vascular +), Vim (+), EMA (-), CK (-), CD163 (+), ALK (-). The recovery was uneventful and the patient was discharged on postoperative day 10. Upon Follow-up, investigations including chest radiogram and electrocardiogram revealed no significant abnormalities. Transthoracic echocardiography demonstrated mild hyperechogenicity of the left ventricular papillary muscles, potentially related to postoperative changes. There was trivial regurgitation of the mitral valve (Figure 1F). Left ventricular systolic function was preserved. The patient's family reported no issues with daily activities or exercise tolerance.",
"gender": "Unknown"
}
] |
PMC11008678
|
[
{
"age": 59,
"case_id": "PMC10926963_01",
"case_text": "The patient, a 59-year-old woman with a history of hypertension presented to the emergency department of a traditional Chinese medicine hospital in Guangdong Province on June 26, 2022 (day 0) with mild abdominal pain, which had been present for 1 day. On admission, her vital signs included a blood pressure of 75/53 mmHg, a heart rate of 85 beats per minute, a body temperature of 36.6 C, and a respiratory rate of 22 breaths per minute. Laboratory test results revealed a platelet count of 71x109 platelets/L and a white blood cell count of 8.92x109 cells/L. The levels of C-reactive protein (239.10 mg/)L, pro-calcitonin (3.97 ng/mL), and blood lactic acid (4.96 mmol/L) were elevated. Liver function tests showed elevated levels of alanine aminotransferase (ALT) (178 U/L), aspartate aminotransferase (AST) (197 U/L), total bilirubin (23.4 mumol/L, and direct bilirubin at 21.3 mumol /L, and decreased levels of total protein (60.0 g/L), and albumin (33.4 g/L). Electrolyte imbalances were also noted, with decreased blood potassium and sodium levels of 2.62 mmol/L and 128 mmol/L, respectively. Creatinine was elevated at 272 mumol/L, and urea was 10.40 mmol/L. Coagulation parameters showed a prolonged prothrombin time of 14.3 s, an elevated activated partial thromboplastin time of 36.8 s, an international normalized ratio of 1.26, and an elevated D-dimer level of 12.64 mg/L. Computed tomography of the chest and abdomen revealed a renal calculus on the left side. Based on the clinical history, laboratory test results, and imaging findings, preliminary diagnoses of septic shock and multiple organ dysfunction syndrome (MODS) involving the liver, kidney, circulation, blood, acute liver failure, acute kidney failure, hypertension, and electrolyte disorders (hypokalemia and hyponatremia) were made. The patient was admitted to the Emergency Intensive Care Unit for further management.\nOn physical examination, the patient's body was found to be covered with small purple skin lesions, and an eschar was present on her left buttock (Figure 1). Given the strong suspicion of scrub typhus, a blood sample was sent for metagenomic next-generation sequencing (mNGS) and quantitative polymerase chain reaction (qPCR) to confirm the diagnosis. Due to worsening hypoxemia and oliguria on day 1, ventilator support and continuous renal replacement therapy were initiated. Antibiotic treatment was modified to doxycycline 100 mg twice daily, considering the patient's severe condition with MODS and suspected scrub typhus. Supportive measures, including platelet transfusion, liver protection, acid inhibition, and maintenance of homeostasis, were also provided.\nThe patient's condition deteriorated on day 2, with worsening of her level of consciousness, disappearance of physiological reflexes, limb convulsions, swelling of the face and limbs, and worsening ecchymosis in the lower limbs. Laboratory test results showed a decreasing platelet count, an increasing white blood cell count, and abnormal liver function tests with decreasing ALT levels and increasing AST, total bilirubin, direct bilirubin, total protein, and D-dimer levels. The mNGS and qPCR results (Figure 2) confirmed the presence of O. tsutsugamushi, suggesting that scrub typhus was the underlying cause.\nThe patient received platelet transfusions and appropriate management, and by day 8, she had started to recover with an improved level of consciousness (Glasgow Coma Scale: E4VTM5). She developed blisters and worsening ecchymoses on the lower legs, scattered bruises, and minor skin lesions all over her body (Figure 3). On day 17, she was transferred to the Rehabilitation Department for further rehabilitation and was discharged 2 days later.",
"gender": "Female"
}
] |
PMC10926963
|
[
{
"age": 45,
"case_id": "PMC10600508_01",
"case_text": "A 45-year-old Tunisian male patient working as a professor, who had no relevant family history presented with erythematous plaques on the face and bilateral nasal obstruction. He reported fatigue, loss of appetite, and unintentional weight loss with mouth and eye dryness for several months.\nOn physical examination, the patient had a ring-shaped squamous plaque on the face ( Figure 1) and unilateral submandibular lymphadenopathy. A nasal endoscopy found congested nasal mucosa with bloody crusts while laryngoscopy showed increased thickness of the right vocal cord and paralysis of the left vocal cord. The ophthalmological examination concluded a low tear break-up time. The pulmonary auscultation revealed bibasilar crepitations and abdominal palpation hepatomegaly. A biopsy was performed in the cutaneous lesion showing a granulomatosis inflammation. Nevertheless, the histopathological results of the minor salivary glands were normal.\nThe laboratory findings showed an accelerated erythrocyte sedimentation rate (100 mm/h), an elevated C-reactive protein (66 mg/L), hyper gamma globulinemia (16 g/L), and an elevated alkaline phosphatase (twice the upper normal limit). The rest of the lab tests including cell blood count, creatinine, electrolytes, angiotensin-converting enzyme, aspartate aminotransferase, alanine aminotransferase and gamma-glutamyltransferase, GGT were normal. Urinalysis was negative for glucosuria, proteinuria, and blood cells. Serological tests for bacterial and viral infections including hepatitis B, hepatitis C were also negative. The PCR for M Tuberculosis and the QuantiFERON-TB Gold In-Tube (QFT-G) test for the diagnosis of tuberculosis disease were negative suggesting that there is not TB infection.\nA nasal mucosa biopsy revealed a granulomatosis inflammation with necrosis.\nThe craniofacial and the thoracoabdominal computed tomography (CT) scans showed ethmoid and maxillary sinusitis, low facial bone density ( Figure 2), multiple mediastinal and hilar lymphadenopathy, diffuse small pulmonary nodules, peripheral, linear reticulations with subpleural cystic lesions, compatible with fibrosis, and hepatomegaly. Plethysmography showed a restrictive pattern with normal forced expiratory volume in 1 second/forced vital capacity (FEV1/FVC) ratio and severely diminished Total Lung Capacity (TLC of 64 per cent of the predicted level) and Forced Vital Capacity (FVC of 60 per cent of the predicted level). Autoimmune serology, including assays for auto-antibodies against nuclear antigen, SS-A/SS-B, anti-cyclic citrullinated peptide (anti-CCP), anti-ds-DNA was negative. Our patient had c-ANCA positivity with a titer of 1:40 (< 1:20). P-ANCA was negative. Proteinase 3 antibody (anti-PR3) was positive by an immunodot technique (Euroimmun, Germany). The serology was negative for autoimmune hepatitis and primary biliary cholangitis: effectively, Non-organ specific autoantibodies (NOSAs, tested by indirect immunofluorescence for antinuclear antibody (ANA), AMA (Antimitochondrial antibodies), SMA (Smouth Muscle Antibodies) and by immunoblotting for AMA type M2, liver kidney/microsome type 1 [LKM-1], LC1 (Liver Cytosol1 antibody), soluble liver antigen/liver pancreas [SLA/LP]) were negative. Gamma-globulin was at 0.81 (0.7-1.5) g/l; immunoglobulin-M, at 3.0 (0.46-3.04) g/l; and immunoglobulin-G, at 11.9 (7.51-15.6) g/l.\nThe clinical, biological, radiological, and histological findings substantiated the diagnosis of GPA.\nSince liver involvement was suspected, a liver biopsy was also performed and was positive on H&E staining for chronic inflammatory granulomatosis process without necrosis.\nThe patient received systemic steroids initiated by a 3-day regimen of methylprednisolone at a dose of 1 g a day, then oral prednisone at a dose of 1 mg/kg/day combined with cyclophosphamide pulses at a dose of 0.6 mg/m 2 on days 1, 14 and 28. Then he was lost to follow-up.\nTwo years later, he was readmitted for dyspnea on exertion, oedema of the lower limbs, and a painful ulcer of his leg that had appeared 3 months prior to admission. On examination, he had tachypnea with a respiratory rate of 34 breaths/min, a large ulcer with necrosis and pus in the right leg ( Figure 3), and severe peripheral pitting oedema. The nasal endoscopic exam showed nasal septum cartilage perforation with resorption of the middle and inferior nasal concha. The lab tests revealed a biological inflammatory syndrome and elevated alkaline phosphatases. Pus culture was positive for Pseudomonas aeruginosa. A skin biopsy showed leukocytoclastic vasculitis. An electrocardiogram revealed a bifascicular block and a transthoracic echocardiography showed a dilated right ventricle, a pericardial effusion, a tricuspid valve regurgitation, and a pulmonary artery pressure of 80 mmHg. The patient received antibiotics to treat his skin infection and intravenous diuretics and oxygen via nasal cannula to manage his heart congestive failure. He was also started on three methylprednisolone pulses relayed by oral corticosteroids and cyclophosphamide. Two weeks later, he developed a diffuse alveolar hemorrhage. He was transferred to the intensive care unit, but died of respiratory failure 3 days later.",
"gender": "Male"
}
] |
PMC10600508
|
[
{
"age": 64,
"case_id": "PMC11105956_01",
"case_text": "A 64-year-old man with a history of recurrent tongue cancer presented with exposed embolic coils in a malignant wound on his right neck. A decade prior, he had undergone wide excision and right neck lymph node dissection for right tongue cancer. Two years ago, a recurrence was detected in the right tongue base, leading to repeated tumor excision, lymph node dissection, and adjuvant chemoradiotherapy. However, 7 months ago, he developed skin metastasis and recurrent lymphadenopathies in the right neck. Oral uracil-tegafur (UFUR) was initiated as maintenance therapy, but the malignant wound continued to progress, necessitating wound dressing.\nOne month prior to this presentation, the patient experienced massive bleeding from the malignant wound, unresponsive to compression. Neck radiography and computed tomography angiography (Figure 1(a)) revealed threatened segments of the right vertebral artery, right common carotid artery (CCA), and right internal carotid artery (ICA) within the necrotic tumor. Angiography of these arteries revealed vascular irregularities resulting from tumor invasion (Figures 1(b) and 1(c)), and emergency coil embolization successfully controlled the bleeding (Figure 1(b)) using multiple MicroNester and Tornado pushable coils (up to 18-14-4, Cook Medical, Bloomington, IN) along with two Interlock-Fibered IDC Occlusion Systems (Boston Scientific, Natick, MA) until achieving flow stasis (Figure 2). No ischemic symptoms developed after coil embolization, and no antithrombotic therapy was administered. Afterward, this patient underwent targeted therapy for his head and neck cancer with nivolumab and afatinib. No radiotherapy or operation was performed during this period.\nAt this visit, the patient reported observing a coil-like metallic wire covered with brown granulation tissue at the wound's base. Neck X-rays confirmed the exposure and migration of embolization coils (Figure 3). Since there were still sufficient coils within the thrombosed lumen of the right CCA and right ICA on computed tomography angiography, conservative management by transection of the exposed coils was performed (Figure 4). During his 3-month hospitalization for treatment of malignant wound infection and pneumonia, no further episodes of massive bleeding occurred.",
"gender": "Male"
}
] |
PMC11105956
|
[
{
"age": 25,
"case_id": "PMC10578053_01",
"case_text": "Case 1 was a 25-year-old female with mixed connective tissue disease (MCTD). She was treated with rituximab every 6th month and prednisolone 5 mg daily. The patient had received three doses of the SARS-CoV-2 mRNA vaccine but had not responded serologically. In February 2022, she developed a fever and cough and tested positive for SARS-CoV-2 by PCR. She experienced a short clinical improvement after 14 days of symptoms, but after a couple of days, the symptoms returned. After 8 weeks of persistent symptoms with fluctuating fever, cough, and dyspnea, she was assessed at the Infectious Disease Clinic. The PCR for SARS-CoV-2 was positive in the nasopharynx but negative in blood. SARS-CoV-2 serology was negative. C-reactive protein (CRP) was 30 mg/L (normal range <5 mg/L). She did not require supplemental oxygen. A chest computed tomographic (CT) scan revealed an image consistent with atypical pneumonia, and because the nasopharyngeal culture was positive for Haemophilus influenzae, she was treated with doxycycline against suspected pneumonia. No treatment against SARS-CoV-2 was prescribed. She experienced 1 week of symptomatic improvement, but then the fluctuating fever, cough, and dyspnea returned and persisted. During the following 4 months, she was reassessed several times at the Infectious Disease Clinic (May, June, July, and August), and every time she tested negative by PCR for SARS-CoV-2 in the nasopharynx. CRP was approximately 30 mg/L. During the first three assessments, the nasopharyngeal culture was positive for Haemophilus influenzae, resulting in antibiotic treatment on every occasion (doxycycline, amoxicillin, and co-trimoxazole) with no symptomatic improvement. Immunoglobulins in serum were tested with a normal IgG at 8.0 (normal range 6.7-14.5), a low IgM at 0.15 (normal range 0.27-2.1), and a low IgA at <0.05 (normal range 0.88-4.5). As she had not had any problems with infections earlier, she had no history of immunoglobulin treatment. A new chest CT in June showed ground-glass opacities and multilobar consolidation. This image was consistent with a pattern of organizing pneumonia (OP) (Figure 5a), which gave rise to interdisciplinary discussions on whether this was an infectious condition or an interstitial lung disease associated with her MCTD (MCTD-ILD). The patient was planned for a follow-up CT scan after 6-8 weeks. In August, she was again assessed at the Infectious Disease Clinic because of persistent symptoms of high fever, effort dyspnea, cough, and fatigue. CRP was now 62 mg/L, and a new chest CT scan revealed progress of OP (Figure 5b). She was admitted to the hospital and underwent a bronchoalveolar lavage (BAL) that surprisingly showed a positive PCR for SARS-CoV-2. The cycle threshold (Ct) value was 31.3, and the strain was typed to BA.2 (the predominant variant in February 2022), strongly suggesting persistent SARS-CoV-2 infection rather than reinfection. The PCR in the nasopharynx remained negative. The patient was treated with nirmatrelvir/ritonavir (Paxlovid) for 10 days and a double dose (300 + 300 mg) of tixagevimab-cilgavimab (Evusheld). After 5 days of treatment, CRP was normal (Figure 1), and the patient felt relief from the clinical symptoms. After that, she gradually recovered fully. A follow-up CT scan was performed 2 months later, showing regression of earlier pulmonary infiltrates (Figure 5c), and the patient self-reported resolution of all symptoms. This recovery remained on the latest follow-up, 5 months after discharge.",
"gender": "Female"
},
{
"age": 54,
"case_id": "PMC10578053_02",
"case_text": "Case 2 was a 54-year-old female suffering from rheumatoid arthritis and was treated with rituximab every 6th month and leflunomide 20 mg daily. She had received five doses of the SARS-CoV-2 vaccine but had not responded serologically. Immunoglobulins in serum had been tested before with a reduced IgG at 3.7 (normal range 6.7-14.5) and IgM at 0.17 (normal range 0.27-2.1) but normal IgA. As she had not had any problems with infections, she was not on any immunoglobulin treatment. In July 2022, she developed a fever and tested positive for SARS-CoV-2 by PCR. She was assessed at the Infectious Disease Clinic where she had stable vital signs and received 300 mg tixagevimab-cilgavimab. The PCR in blood was negative for SARS-CoV-2, and the strain in the nasopharynx was later typed to BA.5. At that time, nirmatrelvir/ritonavir was not yet available in Sweden. She improved for a few weeks, but the fever returned in August. The patient was repeatedly assessed at the Infectious Disease Clinic, where she presented with fever and cough. CRP was consistently around 50, alkaline phosphatase (ALP) around 6-7 u/L (normal range 0.60-1.8 u/L), alanine transaminase (ALT) (ALT) around 0.9-2 u/L (normal range 0.15-0.75 u/L), and every time with stable vital signs. PCR for SARS-CoV-2 in the nasopharynx was repeatedly negative. After 2 weeks, she was admitted to the hospital due to persistent and increasing symptoms. PCR for SARS-CoV-2 in the nasopharynx was still negative. Ultrasound of the liver was normal, but liver function tests continued to increase slightly. A chest CT scan revealed infiltrates indicating atypical pneumonia. A BAL was performed for which the fluid initially only tested positive for Haemophilus influenzae with PCR. Moxifloxacin was then prescribed, and the patient was discharged as she wanted to return home and had stable vital signs; however, the fever was still present. On the planned follow-up after 5 days, the patient was readmitted because of clinical worsening and an elevated CRP of 100 mg/L. The antibiotic treatment was changed to meropenem. More results from the BALF showed a positive PCR for SARS-CoV-2 with a Ct value of 32. After 3 days of meropenem, no improvement was seen and the CRP value continued to increase (126 mg/L), as did the liver enzymes (ALP 17 u/L [normal range 0.60-1.8 u/L], ALT 3.8 u/L [normal range 0.15-0.75 u/L]). With the medical history of the first patient (Case 1) in mind, a persistent SARS-CoV-2 infection was now suspected. The patient was started on nirmatrelvir/ritonavir for 5 days, after which fever, CRP, and liver enzymes rapidly decreased. After 5 days, CRP was almost normal (Figure 2) and the patient was discharged. Liver function tests were normalized after about 2 weeks. At the most recent follow-up (i.e. 6 months after discharge), the patient was still feeling well and reported resolution of all symptoms (Figure 2).",
"gender": "Female"
},
{
"age": 76,
"case_id": "PMC10578053_03",
"case_text": "Case 3 was a 76-year-old male with a history of follicular lymphoma grade II, diagnosed in June 2021. Since November 2021, the patient had been treated with rituximab once a month, lenalidomide daily for 3 weeks with a 1-week pause, and epcoritamab once a month. He had received four doses of the SARS-CoV-2 vaccine, the last dose in March 2022, but had not responded serologically. Serum immunoglobulins had been tested before and were low with IgG at 3.2 g/L (normal range 6.7-14.5 g/L), IgA at 0.38 g/L (normal range 0.88-4.5 g/L), and IgM at 0.08 g/L (normal range 0.27-2.1). As he did not have any problems with infections, he was not on any immunoglobulin treatment. In April 2022, he developed a fever and respiratory symptoms and tested positive for SARS-CoV-2 by PCR in the nasopharynx but negative in blood. The strain was typed to BA.2. He was admitted to the hospital after 8 days and was treated with one dose of 300 mg tixagevimab-cilgavimab and remdesivir for 5 days. Because of a high CRP level (highest 133 mg/L), he received piperacillin-tazobactam followed by meropenem. He also received dexamethasone 6 mg for 5 days because of the elevated CRP and disease duration of >7 days. He did not require oxygen therapy. After a few days, he improved and was discharged after 9 days. He restarted the lymphoma treatment after 2 weeks with lenalidomide and epcoritamab as planned every month but rituximab was discontinued. During spring, summer, and autumn, he presented with a fever and respiratory symptoms about 1 week after every monthly epcoritamab treatment. Each time, he was prescribed different oral antibiotics (e.g. amoxicillin/clavulanic acid, doxycycline, or clindamycin). CRP was around 60-100 mg/L on all these occasions. Cultures from the nasopharynx and sinus were performed but with no positive findings. No viral PCR was taken during that time. In September, the Infectious Disease Clinic was consulted regarding the recurring infections and his low immunoglobulin levels (IgG 2.7 g/L, normal range 6.7-14.5 g/L). The next time (October 2022) the patient contracted a fever and respiratory symptoms, a PCR for respiratory viruses was taken, which was positive for SARS-CoV-2. At that time, nirmatrelvir/ritonavir was available in Sweden, and he was treated with that medication for 5 days. A SARS-CoV-2 serology test showed remaining anti-spike antibodies at 476 BAU/mL. The strain was typed to BA.2, which at that time in Sweden was an almost non-existent variant that strongly suggested prolonged SARS-CoV-2 infection with BA.2 rather than reinfection. A new SARS-CoV-2 PCR was taken after 3 weeks to determine whether the infection was cleared. It showed a Ct value of 21, and because the patient experienced clinical worsening with more cough, he was treated with another course of nirmatrelvir/ritonavir for 5 days and tixagevimab-cilgavimab 600 mg. The Ct values taken 1 and 2 weeks after treatment were 27 and 25, respectively. The patient initially experienced clinical improvement, but after 1 week, the symptoms returned, and he was reassessed at the Infectious Disease Clinic. The CRP was now normal (2 mg/L). After discussing with several Infectious Disease specialists and reviewing the scientific literature, the patient was treated with a combination of nirmatrelvir/ritonavir and remdesivir for 10 days. After that, the symptoms resolved, and during follow-up (the latest in May 2023), he continued to have no fever or respiratory symptoms and is considered cured of his persistent infection.",
"gender": "Male"
},
{
"age": 52,
"case_id": "PMC10578053_04",
"case_text": "Case 4 was a 52-year-old female with a history of kidney transplantation (1992 and 2019) because of granulomatosis with polyangiitis (GPA). She was treated with rituximab every 6th month, 5 mg prednisolone, and 100 mg cyclosporine daily. She had received five doses of the SARS-CoV-2 mRNA vaccine but had not responded serologically. Serum immunoglobulins had been tested before and IgG was known to be decreased at 3.2 (normal range 6.7-14.5) but IgA and IgM were normal. The patient was not on any immunoglobulin treatment as she had not had any problems with infections during the last years. In November 2022, she developed a fever and respiratory symptoms. She was assessed at the Infectious Disease Clinic and tested positive for SARS-CoV-2 by PCR. The Ct value was 27 and CRP was 31 mg/L. PCR in blood was negative. Nirmatrelvir/ritonavir was discouraged as a therapy due to its interaction with cyclosporine. Thus, due to limited clinical symptoms, the patient was only treated with tixagevimab-cilgavimab 600 mg. The SARS-CoV-2 strain was later typed to BA.5. A few days later, she was reassessed at the Infectious Disease Clinic because of clinical deterioration with fever and worsening cough. CRP was now 47 mg/L, and with regard to her immunosuppressive therapy, she was prescribed amoxicillin orally. Two days later, she was admitted to the hospital because of a high fever, an elevated respiratory rate and CRP 67 mg/L but no supplemental oxygen requirement. The patient was started on piperacillin-tazobactam. A chest CT scan on day 18 after disease onset showed opacities consistent with SARS-CoV-2 infection. After admission, CRP and the fever initially decreased. An increase in liver enzymes was seen, which was determined to be caused by the piperacillin-tazobactam treatment, as the patient had a similar reaction when treated earlier with that antibiotic. After 9 days at the hospital, she was discharged. However, at the 1-week follow-up after discharge, she still had a fever and cough. A new SARS-CoV-2 PCR showed a Ct value of 28 and CRP had increased to 103 mg/L. The fever continued fluctuating, and the patient was finally treated with remdesivir for 5 days. The SARS-CoV-2 PCR in blood was negative. After the remdesivir treatment, the fever and respiratory symptoms resolved and CRP decreased to 50 mg/L (Figure 4). At the most recent follow-up in April 2023, she still had sustained resolution of symptoms.",
"gender": "Female"
}
] |
PMC10578053
|
[
{
"age": 53,
"case_id": "PMC10901604_01",
"case_text": "A 53-year-old female patient underwent sono-guided percutaneous A1 pulley release using a HAKI knife at a local clinic 1 month before visiting our hospital. Two weeks after the initial surgery, swelling and pain were observed ( Fig. 2A ). The patient visited our hospital and underwent Incision and Drainage (I&D). During this procedure, pus was observed, and both insufficient A1 pulley release and additional injury to the flexor tendon were found ( Fig. 2B, C ). Following a 2-week course of intravenous antibiotics, the patient exhibited an improvement in the inflammatory condition and was subsequently discharged. Nevertheless, a final limitation in the range of motion was noted as a sequela ( Fig. 2D ).",
"gender": "Female"
},
{
"age": 46,
"case_id": "PMC10901604_02",
"case_text": "A 46-year-old male visited our hospital 2 weeks subsequent to receiving a sono-guided percutaneous A1 pulley release employing a HAKI knife. The patient manifested symptoms of swelling and pain 1 week postoperatively ( Fig. 3A ). Given the clinical suspicion of bacterial infection, immediate surgical intervention was warranted, and I&D was executed. During the surgical exploration, it was ascertained that the A1 pulley had been adequately released. Nevertheless, concomitant longitudinal injuries to the flexor tendon and compromise of the second annular pulley (A2 pulley) were identified ( Fig. 3B ).",
"gender": "Male"
},
{
"age": 54,
"case_id": "PMC10901604_03",
"case_text": "A 54-year-old female patient presented to our institution 12 days subsequent to receiving a percutaneous A1 pulley release with a HAKI knife at the same local clinic as the previously described patient. One week postoperatively, the patient manifested infectious complications and sought medical care at our facility ( Fig. 4A ). Immediate surgical intervention was undertaken, and during the I&D procedure, injury to the A2 pulley was identified ( Fig. 4B ). Owing to the persistence of the infectious presentation, additional I&D was performed. After a 38-day inpatient stay complemented by antibiotic therapy, the patient demonstrated an improvement in the inflammatory condition and was subsequently discharged.",
"gender": "Female"
},
{
"age": 82,
"case_id": "PMC10901604_04",
"case_text": "An 82-year-old female patient presented to our institution 4 months subsequent to undergoing a blind percutaneous A1 pulley release employing needles at a local clinic. Twelve days postoperatively, the patient manifested symptoms of swelling and pain. Despite receiving I&D at an alternative medical facility, the patient experienced a recurrence of infection and subsequently sought care at our hospital ( Fig. 5A ). Immediate surgical exploration was executed. During this intervention, excessive inflammatory granulation tissue on A1 pulley was identified ( Fig. 5B ). Following a 5-week regimen of intravenous antibiotics, the patient demonstrated an improvement in the inflammatory condition and was subsequently discharged.",
"gender": "Female"
},
{
"age": 45,
"case_id": "PMC10901604_05",
"case_text": "A 45-year-old male patient presented to our institution 2 months subsequent to undergoing a blind percutaneous A1 pulley release employing needles. Following the initial procedure, the patient manifested symptoms of infection. Despite undergoing three attempts at debridement and flexor tendon reconstruction at an alternative medical facility, the patient developed soft tissue necrosis and consequently sought care at our hospital ( Fig. 6A ). During surgical exploration, signs of inflammation were observed extending to the level of the proximal interphalangeal joint in the flexor digitorum profundus, and a longitudinal soft tissue defect was evident postdebridement ( Fig. 6B ). To address the tissue deficit, a hypothenar perforator free flap based on the fourth common digital artery perforator was executed ( Fig. 6C-E ). Following a 2-week regimen of intravenous antibiotics, the patient was discharged. Long-term follow-up revealed no issues concerning flap coverage ( Fig. 6F ); however, an additional tendon transfer was necessitated to restore the range of motion.",
"gender": "Male"
},
{
"age": 57,
"case_id": "PMC10901604_06",
"case_text": "A 57-year-old male patient presented to our institution 15 months after undergoing a sono-guided percutaneous A1 pulley release using needles at a local clinic. One week postoperatively, signs of infection emerged, leading to multiple I&D procedures at different hospitals. During these procedures, tendon necrosis occurred, necessitating attempted reconstruction. Despite these efforts, the site continued to exhibit persistent necrosis and inflammation, culminating in the patient's transfer to our hospital ( Fig. 7A ). Chronic inflammation involving the flexor digitorum profundus mandated extensive debridement ( Fig. 7B, C ). A hypothenar perforator free flap, based on the fourth common digital artery perforator, was performed to address the ensuing soft tissue defect ( Fig. 7D, E ). After a 3-week course of inpatient treatment, the patient was discharged. Long-term follow-up showed no signs of inflammation in the flap coverage area ( Fig. 7F ); however, a secondary tendon reconstruction was subsequently required.",
"gender": "Male"
}
] |
PMC10901604
|
[
{
"age": 35,
"case_id": "PMC11088413_01",
"case_text": "The blaNDM-5-carrying S. enterica serovar London strain A132 was collected once from the stool sample of a 35-year-old female patient in the First People's Hospital of Huzhou on 21st July 2023. The patient suffered from severe diarrhea, which progressed from 3 to 4 times a day before treatment to about 10 times on the day of diagnosis. The routine blood test showed that the patient's WBC (9.4 x 10^9/L), neutrophil ratio 82.5%, and high-sensitivity C-reactive protein (15.29 mg/L) were all beyond the normal range, suggesting a bacterial infection. This patient was hospitalized due to serious fever and diarrhea. The species of A132 was identified using the Matrix-Assisted Laser Desorption Ionization Time of Flight Mass Spectrometry (MALDI-TOF MS).\nThe strain was cultured on LB agar plates. One hundred and forty-five microliter bacterial suspension of 0.5-McFarland turbidity was mixed with 3mL 0.45% NaCl solution. The AST-GN13 card filled with the mixture was used. The minimum inhibitory concentrations (MICs) of commonly used antibiotics, including ampicillin, amoxicillin/clavulanic acid, piperacillin, cefazolin, ceftazidime, ceftriaxone, cefepime, aztreonam, imipenem, meropenem, amikacin, gentamicin, ciprofloxacin, levofloxacin, tetracycline, nitrofurantoin and sulfamethoxazole/trimethoprim, were determined by the Vitek2 compact system (BioMerieux, France) following the manufacturer's instructions. Antimicrobial sensitivity results were interpreted according to the Clinical and Laboratory Standards Institute guidelines (M100-S32). The Escherichia coli ATCC25922 was used as quality control and negative control for the antimicrobial susceptibility tests.\nGenomic DNA was extracted using Wizard Genomic DNA Purification Kit (Promega, Madison, WI) according to the manufacturer's protocol. WGS was performed using both the PacBio Sequel II platform (Pacific Biosciences, Menlo Park, CA, USA) with the SMRT bell TM Template kit (Pacific Biosciences) and the Illumina NovaSeq platform (San Diego, CA, USA) with a TruSeq Nano library kit (Illumina) according to the manufacturer's instructions.\nThe long and short WGS reads were trimmed with filtlong (https://github.com/rrwick/Filtlong) and fastp, respectively. Hybrid assembly was performed based on trimmed long and short reads using Unicycler v0.5.0 with default settings, resulting in a complete genome assembly. WGS-based Salmonella serotyping was performed using SeqSero with default settings. The obtained sequences were submitted to PubMLST database (https://pubmlst.org/) to determine the allele number and specific sequence type (ST). MOB-suite v3.1.4 was adopted to predict plasmid sequences from the assembly genome and identify their replicon types, mobility and host range.\nGene predictions and functional annotations were performed with RAST server. The presence of acquired antibiotic resistance genes (ARGs) and chromosomal resistance mutations was detected with ResFinder v4.1. Virulence factors (VFs) were screened using the VFDB database. The search for insertion sequence (IS) elements and their characterization down to the family was carried out correspondingly using digIS and ISfinder. IntegronFinder v2.0 was used to detect complete integrons. Salmonella pathogenicity islands (SPIs) were identified with SPIFinder.\nCore genome single nucleotide polymorphisms (cgSNPs) were extracted with Parsnp v1.2, using the A132 complete genome as a reference. Recombination sites were removed using Gubbins v3.3 with default parameters and a starting tree created by Parsnp using a GTR substitution model. Pairwise SNP distances were calculated with SNP-sites. The maximum likelihood phylogeny based on the concatenated data was inferred by IQ-TREE 2 with a HKY model. The best topology was assessed by 1000 ultrafast bootstraps. The phylogenetic tree was visualized with the interactive Tree of Life (iTOL) web application. Plasmid alignment was generated using BRIG v0.95.",
"gender": "Female"
}
] |
PMC11088413
|
[
{
"age": 47,
"case_id": "PMC11107289_01",
"case_text": "A 47-year-old man presented with a 6-day history of left leg swelling and discomfort. He reported a history of hypertension for 5 years and had undergone gamma knife radiosurgery for an intracranial dural arteriovenous fistula 4 years ago. The patient denied any history of precipitating factors for DVT, including recent trauma, surgery, or immobilization.\nDuplex ultrasonography (DUS) conducted at the time of presentation revealed DVT extending to the distal femoral vein; this was confirmed in the subsequent contrast-enhanced computed tomography (CT), which also revealed pulmonary embolism in the right segmental pulmonary artery (Figure 1). Laboratory findings at initial presentation did not show any abnormalities (hemoglobin, 15.1 g/dl; platelet count, 180 K/microl, prothrombin time, 10.9 s; activated partial thromboplastin time, 26.2 s). Additionally, laboratory tests for hypercoagulability revealed normal values for natural anticoagulants, such as protein C, S, and antithrombin III; factor V Leiden, prothrombin, and JAK2 V617F mutations were not found. Accordingly, the patient was diagnosed with idiopathic venous thromboembolism; anticoagulation therapy with rivaroxaban was administered for 1 year, with a dosage of 20 mg for the initial 6 months and 10 mg for the subsequent 6 months for extended therapy, which was eventually discontinued. At this time, the follow-up DUS demonstrated partial recanalization of the popliteal vein (PV) with residual hyperechoic fibrotic material (Figure 1D). The waveform of PV venous flow showed continuous waveform and the axial reflux of PV was also noted. The patient complained of swelling in the left calf worsening in the afternoon or with exercise.\nTwo years after this event, the patient again visited our outpatient clinic with sudden-onset claudication in the left calf for 1 week. On physical examination, the left ankle pulse was not palpable compared to a normal pulse in the right ankle [the ankle-brachial index (ABI) decreased to 0.62 on the left ankle]. Repeat DUS revealed occlusion of the PA with distal embolization to the dorsalis pedis artery. Subsequent CT angiography (CTA) showed occlusion of PA caused by type 2 PAES, i.e., medial deviation of the PA due to abnormal lateral attachment of the medial head of the gastrocnemius muscle between PA and PV (Figure 2). A careful review of the CT conducted during the previous DVT event also confirmed this abnormal gastrocnemius insertion, and PV was thought to be compressed by both heads of the gastrocnemius muscle (Figure 1C).\nConsequently, the patient was diagnosed with PAES with DVT and subsequent PA occlusion, for which he underwent surgical correction three days after presenting with PA occlusion. A myotomy of the medial head of the gastrocnemius was performed using a posterior S-shaped incision. Next, the injured part of the PA was resected and interposition grafting with the great saphenous vein harvested from the medial thigh was done (Figure 3A). The PV was not explored because the patient did not exhibit severe symptoms associated with chronic venous insufficiency. The postoperative course was uneventful, and the follow-up ABI before discharge was normalized to 1.10. The follow-up CTA before discharge also demonstrated a patent interposition graft with a typical course of PA (Figure 3B), so the patient was discharged a week after the operation. The patient received aspirin 100 mg monotherapy indefinitely following interposition grafting, and anticoagulation therapy was not restarted. During the subsequent 6 years of follow-up, he remained asymptomatic with a patent interposition graft which was monitored using DUS (Figure 4).\nThis study, serving as a care report, adhered to the CARE (CAse REport) guidelines. This study was approved by the institutional review board; informed consent was obtained from the patient (approval number: 2024-01-0033).",
"gender": "Male"
}
] |
PMC11107289
|
[
{
"age": 26,
"case_id": "PMC10461043_01",
"case_text": "A 26-year-old man with uncontrolled diabetes was brought to the Emergency Department (ED) at Hamad General Hospital due to sudden onset of left-sided weakness associated with drowsiness, one hour prior to arrival. Before this admission, he had a one-week history of headache and fever. Three days before, he developed right-sided facial swelling and pain associated with right-sided blurring of vision for which he had been prescribed an oral antibiotic. In the ED, he was still complaining of left-sided weakness that started to improve gradually.\nOn examination, the patient was drowsy. His blood pressure was 122/81 mmHg and pulse rate was 92 per minute and regular, and he was afebrile (36.6 C). He was able to open his eyes to verbal stimuli, answer questions, perform two tasks correctly, and move the right side of his body spontaneously. Glasgow Coma Scale was 14. Speech was mildly dysarthric. There was right-sided diffuse facial swelling extending from the right upper eyelid down to the right side of the upper lip. He was not able to open his right eye fully. Visual acuity of the right eye was limited to light perception. The right pupil was 5 mm dilated and non-reactive. The visual acuity of the left eye was normal and visual fields were intact. The left pupil was normal and reactive to light. Horizontal and vertical eye movements were normal bilaterally. Fundoscopy revealed features of right central retinal vein thrombosis. Facial sensation was intact for all modalities. There was a mild left-sided upper motor neuron facial palsy. The rest of the cranial nerve examination was normal. Motor exam revealed left-sided weakness of both upper and lower limbs (power 2/5 and 4/5, respectively). The left upper and lower limbs were flaccid, and reflexes were sluggish in the presence of bilateral Babinski sign. Pin prick sensation was present bilaterally with right parietal extinction phenomenon on bilateral tactile stimulation. He had no ataxia. His National Institute of Health Stroke Scale (NIHSS) was 9.\nIn the presence of a suspicion of a facial infection on the right side and left-sided hemi-deficit, the diagnosis is expected to be related to this infection. Hence, the initial differential diagnosis included ischemic stroke due to either arterial or venous infarction, intracranial hemorrhage, or seizures with post-ictal weakness.\nAt this stage, a critical decision to thrombolysis the patient for a possible ischemic stroke is needed. Urgent multimodal brain CT was performed and showed right frontal scalp swelling extending to the eyelids, hypodense areas in the right frontal and parietal subcortical white matter and right thalamus (Figure 1). The CT angiogram of the head, which was unfortunately not optimal because of movement artifacts, showed symmetrical non-enhancing right cavernous sinus, reduced caliber of the cavernous segment of the right internal carotid artery, swelling and enhancement of the subcutaneous right temporal region and orbital septum (Figure 2). Because of these significant additional findings, an urgent MRI diffusion scan was performed and showed multiple areas of diffusion restriction involving the right ventral thalamus, posterior limb of the internal capsule, corona radiata, and cortical/subcortical areas all in the right middle cerebral artery (MCA) distribution indicating an embolic ischemic stroke. \nThe laboratory results revealed 9.7 x 103/microL white blood count with 8.3 x 103/ microL neutrophils, hemoglobin 14.1 g/dL, platelets 257 x 103/microL, creatinine 70 micromol/L, sodium 131 mmol/L, chloride 95 mmol/L, bicarbonate 24.9 mmol/L, potassium 4.3 mmol/L, and HbA1c 16.4%. Based on the clinical and neuroimaging findings the patient was given intravenous t-PA. Reassessment after thrombolysis showed no change in physical exam and NIHSS remained at 9. The patient was admitted to intensive care unit, and IV antibiotics were started.\nNext day, his GCS dropped by 2 units. He developed bilateral ophthalmoplegia. In primary position, the right eye was fixed in central position, and the left eye was adducted and deviated downward. The right pupil remained 5 mm dilated and non-reactive and the left pupil was still reactive. Left upper and lower limb power dropped to 0/5. An urgent brain CT scan showed a large right frontal temporo-parieto-occipital infarct and midline shift of 6 mm. Consequently, he underwent urgent decompressive hemicraniectomy.\nOn day 3, the patient was intubated but not sedated. Physical exam showed GCS of 10, bilateral ophthalmoplegia (as described before), and dense left-sided hemiplegia. MRI of the head and orbit, as well as MRA and MRV, were performed and showed maxillary, frontal, and spheno-ethmoidal sinusitis complicated by right-sided facial and orbital cellulitis, right orbital subperiosteal abscess (Figure 3), right cavernous sinus and ophthalmic vein thrombosis, and occlusion of the right internal carotid artery (Figure 4). In addition to recent right middle cerebral artery territory infarction with microhemorraghic changes, shift of the midline structure and mass effect. Invasive sinus infection in a patient with diabetes mellitus raises the possibility of a fungal sinusitis. Therefore, liposomal amphotericin B was started in addition to vancomycin and ceftriaxone. Nasal sinus biopsy was performed, and culture showed Rhizopus species (mucormycosis). \nTwo weeks after the stroke he showed gradual improvement in the level of consciousness. A tracheostomy tube was placed. His level of consciousness eventually returned to normal. He was able to follow commands. The right-eye ophthalmoplegia persisted but the left-eye movement became normal. The facial swelling resolved. He continued to have dense left-sided weakness 0/5 but was able to sit with support.",
"gender": "Male"
}
] |
PMC10461043
|
[
{
"age": 32,
"case_id": "PMC10963056_01",
"case_text": "We present an atypical case of diffuse LPP masquerading as diffuse alopecia areata (AA). A 32-year-old woman presented for a second opinion regarding the treatment of AA. She reported a 10-year history of gradual hair thinning with a 3-year history of worsening diffuse scalp hair loss (shown in Fig. 1a, b) associated with complete madarosis and thinning of axillary and pubic hair. There was no personal or familial history of skin or hair diseases. Examination revealed diffuse hair thinning. Trichoscopy confirmed sporadic white dots, loss of follicular ostia, hair miniaturisation, and minimal perifollicular hyperkeratosis (shown in Fig. 1c, d). Perifollicular erythema, exclamation hair marks, and black dots were absent. Examination of the nails and oral mucosa was unremarkable. Given the diagnostic dilemma, four trichoscopy-guided horizontal and vertical biopsies were taken from androgen sensitive and insensitive areas. These showed fibrous tracts and perifollicular lichenoid lymphocytic infiltrate, suggestive of LPP (shown in Fig. 2). The background of a 10-year history of gradual ponytail thinning and hair miniaturisation also supports a coexisting diagnosis of female pattern hair loss. She was treated with oral corticosteroids, minoxidil, and spironolactone.",
"gender": "Female"
}
] |
PMC10963056
|
[
{
"age": null,
"case_id": "PMC11390286_01",
"case_text": "Patients' baseline characteristics are displayed in Table 1. Table 2 documents the imaging modalities and treatments utilised, as well as recording LFT results at key time points. After 4 cycles of treatment, the patient was commenced on levothyroxine for ICI-induced hypothyroidism. The patient took no medication for rheumatoid arthritis and was allergic to azathioprine. Routine blood tests showed G3 ICI-H 13 months from initiating treatment and after 8 ICI cycles, at which time the patient attended the hospital acutely and was treated with UDCA and 5 days' intravenous methylprednisolone (IVMP) at 2 milligrams per kilogram of body weight (mg/kg) once daily, which was converted to a tapering 60 mg prednisolone. Figure 1 charts the patient's bilirubin throughout their clinical course. On day 4 from ICI-H diagnosis, MR liver showed sludge in the common bile duct (CBD) and gallbladder. Worsening of LFTs was seen on day 13; prednisolone was increased back to 60 mg and MMF commenced [500 mg twice-daily (BD) for 3 days, then increased to 1 g BD]. On day 62, LFTs worsened and prednisolone was changed to IVMP 2 mg/kg for 5 days, followed by 60 mg tapering prednisolone. A small filling defect in the distal CBD and mild dilatation of the intrahepatic bile ducts was reported on the patient's MRCP (Figure 2A; upon subsequent radiologist review for this case series, evident abnormalities of the intrahepatic bile ducts, consistent with sclerosing cholangitis, were commented on); MMF was increased to 1.5 g BD on day 76. Budesonide was added following further worsening of LFTs on day 94. Multidisciplinary discussion on day 125 advised computed tomography (CT) of the pancreas and endoscopic ultrasound (EUS), which demonstrated sclerosing cholangitis and ongoing intrahepatic ductal inflammation. Tacrolimus 3 mg BD was commenced on day 184, however, due to itching, right upper quadrant pain, and worsening of LFTs, the patient was admitted to hospital and treated with IVMP 4 mg/kg, antibiotics, and antifungals. Liver function tests continued to worsen and N-acetylcysteine (NAC) was given over 21 hours, dosed as for paracetamol overdose; following discussions with hepatology, the patient was not considered a liver transplant candidate. A trial of infliximab was suggested, and given (day 213); LFTs stabilised 5 days later. The patient received two further doses of infliximab (days 220 and 249) and was discharged on day 225, but was subsequently re-admitted with worsening hyperbilirubinaemia, jaundice, and encephalopathy, and received palliative care input. There was also concern of a superadded infection with raised C-reactive protein (CRP; 209 mg/L) so antibiotics were given with good biochemical effect (CRP 21 mg/L after a 7-day course). Despite this, ongoing clinical deterioration with worsening LFTs was seen and felt likely to be worsening with inflammatory changes. Given the deterioration and worsening imaging features of sclerosing cholangitis, the prognosis was felt to be poor; after two weeks in hospital, the patient was discharged to hospice and subsequently home with 24-hour care with ongoing MMF. However, over the next several months, the patient gradually improved in terms of symptoms and daily functioning, remained recurrence-free, and demonstrated marked biochemical improvement (Table 2). Despite sustained clinical and biochemical improvement, repeat MR liver at day 513 from ICI-H diagnosis showed stable changes consistent with sclerosing cholangitis versus previous MRCP (Figure 2B).",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC11390286_02",
"case_text": "This patient had routine blood showing G2 hepatitis 21 days after commencing combination ICI-chemotherapy, having received 1 cycle of ICI and was treated with a 60 mg prednisolone taper. The taper was successfully completed 27 days after ICI-H was diagnosed, however, the patient's LFTs worsened again on day 33 and a repeat course of prednisolone was given. Response assessment after 3 cycles of ICI-chemotherapy showed treatment response in the lung, some progression in existing bony sites and normal hepatic ducts. Whole-brain radiotherapy was given and the patient had planned to recommence maintenance ICI-chemotherapy but was admitted on day 167. During the admission ICI-induced pneumonitis and malignant pleural effusion were diagnosed, and treated with chest drain and corticosteroids. On day 206 LFTs acutely worsened and the patient underwent a CT showing mild biliary dilatation (Figure 2C) and was treated with 4 mg/kg IVMP, tacrolimus 3 mg BD, and NAC. MR liver on day 210 showed worsening of hepatic metastases and appearances consistent with ICI-C (Figure 2D); accordingly, the patient commenced MMF 500 mg BD, increased IVMP to 500 mg/day, started budesonide 3 mg three times daily, and underwent thiopurine methyltransferase testing and infliximab screening. Dose of MMF was doubled to 1g BD after 3 days. Liver function tests continued to worsen, and visible jaundice developed. Progression of intrahepatic ICI-C appearances, together with stenosis of the CBD, was seen on MRCP on day 217 (Figure 2E). Coagulation became deranged and CT Brain was performed on day 223 for acutely reduced responsiveness, demonstrating a subarachnoid haemorrhage. The focus of management was changed to end-of-life care, and the patient died on day 225.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC11390286_03",
"case_text": "This patient had previously received tivozanib and cabozantinib and commenced palliative ICI monotherapy. They presented with ICI-H 25 weeks after ICI initiation having received 3 ICI cycles (treatment delays were due to hypercalcaemia requiring hospital admission). A routine CT scan 15 days before ICI-H was reported as showing pericholecystic haziness suggesting inflammation (Figure 2F; upon subsequent radiologist review for this case series, enhancement of the gallbladder, central bile ducts, and CBD were commented on). The patient commenced 60 mg tapering prednisolone without improvement of LFTs. On day 29, MRCP showed dilated right peripheral bile ducts suggesting ICI-C (Figure 2G); the patient was accordingly commenced on MMF and 2 mg/kg IVMP, which was later (day 44) increased to 4 mg/kg and tacrolimus also commenced due to lack of LFT response. After 9 days of IVMP (day 51), 60 mg tapering prednisolone was commenced with MMF increased to 1.25 g BD. On day 58, troponin T and amino-terminal pro-B-type natriuretic peptide (NTproBNP) values were raised acutely (71 ng/mL and 899 pg/mL respectively); ICI-induced myocarditis was suspected and 4 mg/kg IVMP started. Infliximab was given (day 62) and IVMP was continued until cardiac MR was performed (day 76); it demonstrated ischaemia and a previous infarct, but no changes of ICI-induced myocarditis. Accordingly, IVMP was converted to tapering prednisolone, though a second dose of infliximab was given (day 97) due to worsening of LFTs. Liver function tests all began to normalise following treatment (Table 2) and immunosuppression was de-escalated. Ongoing endocrine input was required for malignancy-associated hypercalcaemia and the patient experienced two subsequent admissions for this (days 113 and 125). During the second admission, the patient developed a Covid-19 infection and unfortunately died as a result of this on day 161.",
"gender": "Unknown"
}
] |
PMC11390286
|
[
{
"age": 50,
"case_id": "PMC11329959_01",
"case_text": "A 50-year-old male, newly diagnosed with locally advanced extrahepatic cholangiocarcinoma, presented to our oncology clinic complaining of intense pain and numbness in his left hand, persisting for 2 hours. He reported no associated fever or swelling. He had no personal or family history of diabetes, hypertension, cardiac, or other chronic medical conditions. His presentation occurred 1 week after receiving his third cycle of chemotherapy, which included cisplatin (60 mg/m2) on day 1 and gemcitabine (1000 mg/m2) on days 1 and 8 of a 21-day cycle. His treatment course had been uneventful until this presentation.\nOn physical examination, the patient's vital signs were stable with an Eastern Cooperative Oncology Group performance status of 1. The pulse rate at the right radial artery was 92 beats per minute and regular. However, radial and brachial pulses were not palpable in the left upper limb, which also showed coldness, palmar pallor, and delayed capillary refill. No other pertinent findings were noted on physical examination.\nHe was investigated with a left upper limb arterial Duplex study that revealed an intraluminal mass in the left brachial artery with absent flow in the distal radioulnar arteries, suggesting total occlusion. Subsequent CT angiography demonstrated a critical left brachial artery occlusion with central filling defects in both proximal and distal segments (Figure 1), accompanied by hypoenhancement of the left radial and ulnar arteries. Axial images showed progressive luminal narrowing proximally, transitioning to complete occlusion distally, in contrast to the patent right brachial artery (Figure 2). Coronal reformatted views confirmed these findings, displaying a filling defect in the left brachial artery (Figure 3), suggestive of thrombotic occlusion. An electrocardiogram (ECG) was performed and the results were normal. However, echocardiography was not done. Laboratory tests, including complete blood count, bilirubin, liver enzymes, and renal function, were within normal range. D-dimer testing was not performed due to its unavailability at our hospital. The baseline CA 19-9 level was elevated at 1200 U/mL.\nA diagnosis of left upper extremity category I acute limb ischemia secondary to brachial artery thrombosis was established and the patient was started on an initial loading dose of unfractionated heparin, 5000 IU IV, followed by 17,500 IU SC BID. Subsequently, after a multidisciplinary discussion and obtaining the patient's written consent, a definitive open thromboembolectomy was performed. Postoperatively, the patient was started on rivaroxaban (10 mg orally per day) and a loading/maintenance dose of aspirin (325/81 mg orally daily). He was scheduled for regular follow-up, and an arterial Doppler performed 6 weeks post-surgery showed no abnormalities.",
"gender": "Male"
}
] |
PMC11329959
|
[
{
"age": 76,
"case_id": "PMC10865887_01",
"case_text": "We reported a case of increased premature ventricular contractions associated with liraglutide injection in China. Patient, male, 76 years old. He was admitted to the Department of Endocrinology on April 06, 2023, due to \"10 years of elevated blood glucose and 4 months of poor control\". His original glucose-lowering regimen was oral acarbose tablets 50 mg tid, which was later changed to insulin glulisine (Sanofi Beijing Pharmaceutical Co., Ltd.) with a dose of 8 U in the morning, 10 U in the middle, and 4 U in the evening by subcutaneous injection and oral gliclazide tablets (Tianjin Huazin Pharmaceutical Co., Ltd.) 80 mg qd due to poor glycemic control. He had a 5-year history of coronary artery disease and underwent selective coronary angiography in our hospital on Feb. 10, 2023 reporting a mid LAD myocardial bridge with 90% stenosis in the middle and distal segments, flow TIMI grade 3, no significant stenosis in the LCX, RCA, flow TIMI grade 3, and implantation of 2.5*18 mm coronary rapamycin-targeted eluting stent in the anterior descending branch. The patient had no previous acute coronary syndrome or postoperative myocardial infarction, the patient's cardiovascular medications included sacubitril valsartan sodium tablets 100 mg qd (Beijing Novartis Pharmaceutical Co., Ltd.), bisoprolol fumarate tablets 1.25 mg qd (Merck KGaA, Germany), clopidogrel bisulfate tablets 75 mg qd (Hangzhou Sanofi Pharmaceutical Co., Ltd.), and atorvastatin calcium tablets 20 mg qn (Pfizer Pharmaceuticals Ltd.), and on Feb. 8, 2023, cardiac ultrasound showed widening of the ascending aorta (3.5 cm of the ascending aorta), enlargement of the left atrium (anterior-posterior left atrial diameter of 4.1 cm), left ventricular diastolic hypoplasia, cardiac arrhythmia, and an EF (%) of 53%. On February 09, the holter electrocardiogram showed: average heart rate: 62 beats/min, sinus rhythm, frequent premature ventricular beats, premature ventricular beats: 3,804 beats, occasional premature atrial beats, ST-T changes (Figure 1). Physical examination: BP: 138/76 mmHg, P: 70 beats/min, no abnormalities on cardiopulmonary auscultation, height: 172 cm, weight: 70 kg, BMI: 23.66 kg/m2. HbA1c: 7.40%, troponin, myoglobin, creatine kinase isoenzyme, FT3, FT4, TSH, hepatic and renal function, electrolytes, urinary albumin creatinine ratio were negative. Electromyography showed bilateral posterior tibial motor nerve conduction velocity slowed down. Resting electrocardiogram showed sinus rhythm and T-wave changes (I, aVL, V1-V6). After admission, the patient was treated with insulin pump for hypoglycemic therapy, and the hypoglycemic regimen was adjusted to liraglutide (Novo Nordisk, Denmark) 0.6 mg qd, subcutaneous injection at 07:00 on April 10. At 14:00 on April 10, the patient began to develop obvious palpitation without obvious cause. When the symptoms occurred, BP was 120/60 mmHg and HR was 75 beats/min. Immediately bedside electrocardiogram showed frequent ventricular premature beats, and urgent tests of troponin, myoglobin, and creatine kinase isoenzyme were negative. On April 11, he reported no relief of palpitation. The resting electrocardiogram showed sinus rhythm, suspected ST segment elevation <=0.05 mv in leads II and aVF, frequent premature ventricular contractions, and negative troponin, myoglobin, and creatine kinase isoenzyme. On April 13, the patient's electrocardiogram showed: average heart rate: 79 beats/min, sinus rhythm, occasional atrial premature beats, frequent ventricular premature beats, ventricular premature beats: 10,229 beats, ST-T alteration, heart rate variability analysis: heart rate variability indices SDNN (50), SDANN (47), RMSSD (10), PNN50 (0) decreased (Figure 2). On April 14, liraglutide was stopped and insulin glulisine was given subcutaneously 6 U in the morning, 4 U in the evening and 4 U before meals. The symptoms of palpitation were relieved. One week after discharge, the patient was injected with liraglutide 0.6 mg qd again due to the large fluctuation of blood glucose. After the use of liraglutide, the patient again developed obvious palpitation. On April 23, liraglutide was stopped and instead use insulin glulisine subcutaneously, and the palpitation was relieved after discontinuation of liraglutide. The patient did not continue to use liraglutide for one month and had no palpitation symptoms. On May 29, the reexamination of holter showed: average heart rate: 59 beats/min, sinus rhythm, episodic atrial premature, episodic ventricular premature, ventricular premature beats: 860 beats, T-wave alterations, heart rate variability analysis: heart rate variability indexs SDNN (94), SDANN (89), PNN50 (0) decreased (Figure 3).",
"gender": "Male"
}
] |
PMC10865887
|
[
{
"age": 85,
"case_id": "PMC11095276_01",
"case_text": "This study was approved by the Institutional Review Board (IRB) of authors' Clinical Research Coordinating Center (IRB number MC21EIDE0105). As a routine anatomical dissection of the cadaver of an 85-year-old female, we treated the cadaver with formalin containing 37% by weight of formaldehyde gas in water for embalming and tissue fixation. Both wrists were dissected through a volar aspect, followed extensively by forearms and hands. The anatomical structure of the carpal tunnel was identified. We noted an anomalous muscle running within the carpal tunnel in both wrists (Figures 1 and 2). There was no palpable or protruding mass before the dissection of both wrists.",
"gender": "Female"
}
] |
PMC11095276
|
[
{
"age": 61,
"case_id": "PMC11148225_01",
"case_text": "A 61-year-old Chinese man was referred to our hospital with 6-month history of low back pain and difficulty walking, which were particularly severe after physical exertion. The patient reported occasional temporary relief of these symptoms through Chinese medical massage treatments. One month before being admitted, his symptoms had worsened progressively without a clear precipitating factor, and he experienced pain that extended to his left thigh accompanied by a sensation of numbness. Subsequently, detailed bone examinations were performed at local hospital. At that time, spine magnetic resonance imaging (MRI) suggested pathologic fracture of lumbar (L3) spine and showed multiple abnormal signals in left iliac bone and in vertebral bodies of the thoracic (T11-T12), lumbar (L1-L4), and sacral (S1/S3) spine. Meanwhile, fluorine-18-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) imaging reported that FDG uptake was slightly increased in those bone lesions, but not in other areas of the body. The patient was tentatively diagnosed with bone tumors of unknown cause and was transferred to our hospital for further diagnosis and treatment.\nOn admission, our spine MRI confirmed the previous results ( Figure 1A ). A complete blood count (CBC) test showed a slightly increased counts of monocytes (0.73x109/L; normal range: 0.1-0.6x109/L), and normal results of red blood cells (4.95x1012/L), hemoglobin (142 g/L), platelets (204x109/L), and white blood cells (7.46x109/L) ( Table 1 ). Examination of the peripheral blood smear consistently suggested an increased proportion of monocytes. Moreover, antibody serology tests revealed positive results for antinuclear (ANA) antibody and anti-beta-2 glycoprotein 1 (B2GP1) antibody. With flow cytometry (Becton Dickinson FastImmune Cytokine System), we detected elevated levels of interferon gamma (IFN-gamma; 13.03 pg/mL; normal range:<=4.43 pg/mL) and interleukin-17A (5.60 pg/mL; normal range:<=4.74 pg/mL) in whole blood. Notably, coagulation tests revealed a significant increase in D-dimers level (4.12 mg/L; normal range: 0-0.8 mg/L), while other coagulation indexes were within normal range ( Table 1 ). Heart, renal, liver, and nervous system functions were normal.\nIn order to assess the histopathological basis of bone lesions, we further performed CT-guided percutaneous needle biopsy of lumbar L3. The spinal biopsy results indicated the presence of immature/blast-like cells with eccentric nuclei within the spaces of the bone trabeculae ( Figure 2A ). Immunohistochemical staining of the spinal biopsy revealed positive expression for CD117, CD43, myeloperoxidase (MPO), lysozyme, and Ki67 (labelling index about 40%), while it tested negative for CD20, CD34, CD56, CD61, CD79a, CD138, and IgG/M, kappa, lambda expression. These findings suggested the presence of myeloid neoplasms. Meanwhile, BM biopsy revealed 95% of blast cells and a staining profile characterized by CD117 (+), MPO (+) and lysozyme (part+), which was similar to the results of spinal biopsy. In addition, BM aspirate showed hypercellularity with an elevated myeloid/erythroid (M/E) ratio of 7.52:1. Specifically, there was a significant elevation in the percentage of promyelocytes (21%; normal range: 0.4-3.9%), strongly indicating the likelihood of APL. Erythropoiesis was insufficient, while megakaryopoiesis was normal. Giemsa-stained promyelocytes displayed round nuclei and hypergranular cytoplasm ( Figure 2B ). However, Auer rods were notably absent. The majority of promyelocytes had positive staining for MPO ( Figure 2C ). Multiparameter flow cytometry of BM aspirate detected 78% blasts and suggested an immunophenotype that was positive for CD13, CD33, CD117, and MPO, and negative for CD3, CD10, CD11b, CD14, CD15, CD19, CD34, CD71, CD79a, and HLA-DR, corresponding to APL features.\nNotably, cytogenetics G-band analysis of BM cells revealed a normal male karyotype (46, XY) ( Figure 2D ). Metaphase fluorescence in situ hybridization (FISH) analysis with the PML::RARalpha dual-color dual-fusion probe kit (FP-005, Wuhan HealthCare Biotechnology Co., Ltd.) on BM aspirate suggested the absence of PML-RARalpha dual-fusion translocation ( Figure 2E ). However, three green FISH signals suggested the presence of RARalpha translocation ( Figure 2E ). This finding was subsequently validated using the RARalpha break-apart probe detection kit (FP-043, Wuhan HealthCare Biotechnology Co., Ltd.) ( Figure 2F ). To further explore the etiology, we performed reverse transcriptase polymerase chain reaction (RT-PCR) (Dian Diagnostics Group Co. Ltd., Hangzhou, China) on BM. It revealed PLZF::RARalpha fusion by using the reverse primers (NM_000964; RARalpha 1-R, 5'-AAGCCCTTGCAGCCCTCAC-3' [external]; RARalpha 2-R, 5'-CCCATAGTGGTAGCCTGAGGAC-3' [internal]) located within exon 2 of RARalpha gene in conjunction with the forward primers (NM_001018011; PLZF 1-F, 5'-CCACAAGGCTGACGCTGTATT-3' [external]; PLZF 2-F, 5'-GTGGGCATGAAGTCAGAGAGC-3' [internal]) located within exon 3 of PLZF gene. Sanger sequencing further confirmed the presence of PLZF::RARalpha exon 3-exon 2 fusion transcript ( Figure 2G ). Next-generation sequencing (NGS) analysis with the Myeloid Tumor Assay that was consisted of 128 genes panel (Dian Diagnostics Group Co., Hangzhou, China) detected no additional mutations. Taken together, according to FAB classification, a definitive diagnosis of APL was ultimately established.\nIn the initial induction therapy, the patient was treated with 20 mg/day ATRA (BID) for one week. This was followed by a regimen incorporating subcutaneous azacitidine (120 mg/day, Day 1 to 7) and oral administration of venetoclax with a progressive dose escalation: 100 mg/day (Day 1), 200 mg/day (Day 2), and 400 mg/day (Day 3 to 24) ( Table 2 ). During this period, the patient was also treated with cetirizine for skin itch and rash. Subsequent CBC revealed that his WBC counts reduced to 3.9x109/L, which was still within normal range ( Table 1 ). BM aspirate showed hypercellularity and a decreased M/E ratio of 0.2:1, which was characterized by granulocytic hypoplasia and erythrocytic/megakaryocytic hyperplasia. Importantly, BM aspirate indicated that the percentage of promyelocytes reduced to 0.5%. On BM biopsy, residual leukemia cells were negligible. However, spine MRI showed no significant improvement in MS lesions ( Figure 1B ). RT-PCR from BM showed the persistence of PLZF::RARalpha fusion.\nAs a result, we maintained the patient on oral venetoclax administration at 400 mg/day (Day 1 to 12) and further administered idarubicin intravenously (10 mg/day IV bolus, Day 1 and 2; 20 mg/day IV bolus, Day 3) ( Table 2 ). Meanwhile, the patient developed pancytopenia, and had sustained agranulocytosis for two weeks. To address this, herombopag, recombinant human interleukin-11 (IL-11), and blood transfusion were given ( Table 2 ). Repeated BM aspirate showed reduced cellularity and a decrease in all three blood cell lineages. Notably, the percentage of promyelocytes increased again to 12%, but subsequent flow cytometry immunophenotyping confirmed a normal phenotype of immature granulocytes, which was hypothesized to be a possible manifestation of myeloid hematopoietic recovery. Fortunately, MRI showed that spinal MS lesions were obviously shrunken ( Figure 1C ). The patient also obtained symptomatic relief of low back pain and difficulty walking. What's more important, PLZF::RARalpha fusion transcript became undetectable, indicating the achievement of complete molecular remission (MR). The decision to initiate additional treatment was contingent upon the successful recovery of the patient's hematopoietic functions.",
"gender": "Male"
}
] |
PMC11148225
|
[
{
"age": 62,
"case_id": "PMC11342423_01",
"case_text": "A white 62-year-old female presented to the dermatology clinic in March 2021 with a 1-month history of acute widespread pruritic erythema with numerous tense bullae on the medial thighs, lateral upper arms, and chest. She had a history of rheumatoid arthritis. Based on clinical presentation, she was diagnosed with BP, which was subsequently confirmed with skin biopsies for histology and direct immunofluorescence. She was started on prednisone 40 mg once daily for 3 weeks, along with doxycycline 200 mg once daily and niacinamide three times a day. The disease progressed despite increasing the prednisone dose to 100 mg once daily. She was admitted to hospital in April 2021 for severe, treatment-resistant BP. During the 3-week admission, she received solu-medrol 125 mg intravenous (IV) IV 3x, intravenous immunoglobluin (IVIG) 2 g/kg and one dose of rituximab 1000 mg IV. She was also diagnosed with hypertension and monoclonal gammopathy of undetermined significance and underwent a bone marrow biopsy to rule out myeloma. She continued to develop new bullae in friction areas; however, she was discharged home in stable condition with outpatient wound care.\nAfter discharge, she received another dose of rituximab 1000 mg IV 14 days after the initial dose, in combination with a tapering dose of prednisone. In June 2021, she was admitted to hospital for methicillin-resistant Staphylococcus aureus (MRSA) bacteremia presumed to be secondary to an infection at the bone marrow biopsy site During admission, she experienced a BP flare and was started on prednisone 70 mg once daily. She was discharged on vancomycin and a tapering dose of prednisone. In November 2021, she developed more pustules that were positive for MRSA and was treated with clindamycin for 2 weeks before starting dapsone 50 mg once daily. In February 2022, she had ongoing widespread blister formation; prednisone was reintroduced at 20 mg once daily with a tapering dose.\nThe patient was lost to follow-up for 16 months before self-referring to the clinic with a new onset of blisters in July 2023. She had discontinued dapsone and prednisone with no active lesions until 6 weeks prior to self-referral. She denied any triggering illness but endorsed she had recently been under significant stress. On physical examination, she had urticarial plaques and tense bullae on the inner aspect of her arms bilaterally, inner thighs, trunk, and back covering approximately 70% of her body surface area (Figures 1-3). She was started on prednisone 50 mg once daily for 2 weeks, with minimal effect. Due to her prior MRSA abscess and past failure with rituximab treatment, there was reluctance to prescribe rituximab again. On August 3, 2023, she received an initial loading of dupilumab 600 mg subcutaneous injection and continued prednisone 70 mg once daily for 10 days with a slow taper. A second dose of dupilumab 600 mg subcutaneously was administered 2 weeks later, she experienced rapid improvement with clearance of the urticated plaques and no new blister formation. She was educated on self-injection administration and continued dupilumab 300 mg injections every 2 weeks. By November 9, 2023, she had tapered off prednisone with no new blister presentation. In follow-up in February and April 2024, several well-circumcised round patches of post-inflammatory hyperpigmentation scattered across her entire body and a few erythematous papules were observed on her arms (Figures 1-4). She has tolerated dupilumab well with no reports of relapse or adverse events.",
"gender": "Female"
}
] |
PMC11342423
|
[
{
"age": 86,
"case_id": "PMC10839416_01",
"case_text": "The patient was an 86-year-old man with a history of multiple aortic surgeries. Twelve years prior, he underwent ascending aorta and arch replacement for a thoracic aortic aneurysm, and seven years prior, he underwent TEVAR for a thoracoabdominal aortic aneurysm. A recent computed tomography (CT) showed an 8-cm-diameter thoracoabdominal aortic aneurysm, which was 1 cm larger than the CT obtained one year prior. CT also revealed a T2EL through the right ninth intercostal artery (Figure 1). No other endoleaks were observed.\nWe decided to treat T2EL because the aortic aneurysm was large and it showed rapid growth. The right ninth intercostal artery communicated with the thoracodorsal artery, and transarterial embolization was planned for the endoleak. As the arterial route to the endoleak cavity was long and tortuous, we used a triaxial system comprising large and small microcatheters. Embolization was performed under local anesthesia and moderate sedation. The right brachial artery was punctured, and a 4-F guiding sheath with an effective length of 50 cm (Parent Plus 30, Medikit, Tokyo, Japan) was placed. The right thoracodorsal artery was selected using a 4-F cobra catheter. Angiography of the right thoracodorsal artery revealed a long and tortuous branch communicating with the right ninth intercostal artery and a T2EL through the intercostal artery (Figure 2).\nThe cobra catheter was exchanged with a 4-F distal access catheter (4F Cerulean G, Medikit, Tokyo, Japan), and a large microcatheter with a distal diameter of 2.6-F and an effective length of 125 cm (Carnelian HF-S, Tokai Medical Products, Aichi, Japan) was advanced from the 4-F catheter. Coaxially, through the large microcatheter, a small microcatheter with a distal diameter of 1.6-F, a proximal diameter of 1.8-F, and an effective length of 155 cm (Carnelian Marvel S, Tokai Medical Products, Aichi, Japan) was advanced using a 0.014-inch guidewire to reach the endoleak cavity. During the procedure, however, the guidewire could not be advanced further because of the high friction between the guidewire and the microcatheter due to the tortuosity of the vessel (Figure 3A). Therefore, we decided to use a smaller microcatheter and guidewire. The small microcatheter was exchanged for a different small microcatheter with a distal diameter of 1.3-F, a proximal diameter of 1.8-F, and an effective length of 155 cm (Carnelian Marvel S 1.3, Tokai Medical Products, Aichi, Japan). The inner diameter of the catheter was 0.011 inches. A 0.010-inch guidewire was advanced from the 1.3-F microcatheter, and the wire easily passed through the tortuous communicating artery. The 1.3-F and 2.6-F microcatheters and the 4-F distal access catheter were advanced deeply (Figure 3B).\nThe 1.3-F microcatheter reached the endoleak cavity, and angiography revealed no visualization of the inflow and outflow vessels (Figure 4).\nThe endoleak cavity and the ninth intercostal artery were embolized using an n-butyl cyanoacrylate (NBCA) and lipiodol mixture (1:5, 0.5 mL). Angiography of the right subscapular artery revealed endoleak occlusion (Figure 5).\nThe patient experienced an uneventful postoperative clinical course. CT obtained six days later showed no endoleak in the thoracoabdominal aortic aneurysm.",
"gender": "Male"
}
] |
PMC10839416
|
[
{
"age": 44,
"case_id": "PMC10601811_01",
"case_text": "A 44-year-old male referred with sudden-onset painless decreased visual acuity of the left eye since the day before examination. He stated a history of binocular diplopia 1 week before visual symptoms. A brain magnetic resonance imaging (MRI) was performed by his neurologist, and it had no pathologic findings. He had no past medical history except for COVID-19 infection with 1-week hospitalization, 3 weeks before referral to the emergency room. He had a history of fever, dry cough, and progressive dyspnea that needed to be admitted to hospital with 81% oxygen saturation (O2Sat). COVID-19 was confirmed by a positive nasopharyngeal swab test reverse transcription (RT) polymerase chain reaction (PCR) test for SARS-CoV-2. Computed tomography of the chest showed ground-glass opacities with involvement of 50% of pulmonary parenchyma. He was treated with favipiravir, remdesivir, non-steroidal anti-inflammatory drugs and discharged after 1 week with 92% O2Sat. He did not receive systemic corticosteroids.\nAt the time of the first ophthalmic examination, visual acuity was 20/20 in the right eye and light perception in the left eye, which gradually decreased to no light perception (NLP) in 4 days. Relative afferent pupillary defect was positive in the left eye. Intraocular pressure (IOP) was 12 mm Hg in both eyes. Anterior segment examination in the left eye revealed 1-2+ cells in the anterior chamber and 2+ cells in the anterior vitreous due to spillover. Fundus exam of the right eye was normal, but in the left eye, we noticed cotton-wool-like geographic white patches in posterior pole and equatorial area of the retina (Fig. 1). In fluorescein angiography, delayed retinal arterial filling (after 40 s) and vascular filling defect in the regions of white patches were obvious (Fig. 2a-d). Optical coherence tomography demonstrated increased reflectivity and thickness of the retinal inner layers of the left eye (Fig. 2e, f). Vitreous sample with suspicion of atypical acute retinal herpetic lesions and SARS-CoV-2 was acquired. Vitreous sample PCR result was negative for SARS-CoV-2, varicella zoster virus (VZV), herpes simplex virus, cytomegalovirus, and Toxoplasma gondii. Serum biochemistry evaluation was within normal limits except for the erythrocyte sedimentation rate of 60 mm/h and 2+ C-reactive protein (CRP).\nWe asked for a neurology and cardiology consultation to evaluate the carotid arteries and heart as a source of embolic accident, which were normal. We started 75 mg oral prednisolone orally which tapered slowly. He is under observation, and visual acuity of the left eye did not improve, and no right eye involvement was observed, but the ocular inflammation suppressed. After 3 weeks from presentation, he came to the emergency room with ocular pain. The left eye IOP was 48 mm Hg, and iris neovascularization was obvious. With diagnosis of neovascular glaucoma and after controlling IOP with topical anti-glaucoma drops, full panretinal photocoagulation treatment was done for the left eye. Patient final vision was NLP. The CARE Checklist has been completed by the authors for this case report, attached as online supplementary material (for all online suppl. material, see https://doi.org/10.1159/000532108).",
"gender": "Male"
}
] |
PMC10601811
|
[
{
"age": 88,
"case_id": "PMC10882249_01",
"case_text": "We present the case of an 88-year-old female who presented to the emergency department (ED) with a three-week history of left-sided flank pain. The pain was dull, of severe intensity, non-radiating, intermittent, and associated with nausea and heaving. She denied fever, chills, shortness of breath, chest pain, dysuria, and frequent urination.\nShe had an extensive past surgical history, including four c-sections, hysterectomy, cholecystectomy, right bunionectomy, left-hand ganglion cyst removal, and two left myringomethomies with tympanostomy tubes. In terms of social history, she was a non-smoker, consumed wine once or twice a month, and denied substance abuse. She lived independently in her own home and consumed a well-balanced diet.\nUpon questioning her family history, it was revealed that her father had an acute myocardial infarction, and her mother had lung cancer. In addition, her brother had a history of a stroke, and her sister had type II diabetes mellitus.\nA CT of the abdomen and pelvis without contrast confirmed the presence of an HSK (Figure 1) and bilateral hydronephrosis, more prominent on the left (Figure 2). Ultrasound of the kidneys revealed bilateral hydronephrosis with a left predominance (Figure 3). A nuclear medicine renal flow scan with furosemide was ordered to visualize the function of the whole HSK. The scan showed bilateral excretion with asymmetric renal split in function, 60% on the right and 40% on the left (Figure 4). A voiding urethrocystography showed no bladder abnormalities and no evidence of vesicoureteral reflux (VUR) as shown in Figure 5.\nA cause for the hydronephrosis could not be found. Therefore, through shared decision-making, the urologist recommended conservative medical management with as-needed analgesics to ease pain, and the patient opted for no surgical interventions. The patient was discharged on oral analgesics with instructions to follow up closely with a urology outpatient for ureteral stenting if the pain persists.",
"gender": "Female"
}
] |
PMC10882249
|
[
{
"age": 35,
"case_id": "PMC10733053_01",
"case_text": "We report on a 35-year-old female with a history of schizoaffective disorder, bipolar type, and cocaine use disorder, with multiple previous psychiatric admissions, who was brought to our hospital's crisis unit after her parents called police, complaining that she had become aggressive and was \"acting delusional\" during an argument. According to her parents, the patient had demanded a DNA test to prove that her parents were not her biological parents and that her son was not her biological son. One week prior to admission, the patient's parents had reported her missing when she \"disappeared\" from their home soon after being discharged from our hospital following a similar presentation. Prior to admission, the patient's medications included lamotrigine, clonazepam, and long-acting injectable aripiprazole; however, her adherence to treatment recommendations was poor.",
"gender": "Female"
},
{
"age": 2,
"case_id": "PMC10733053_02",
"case_text": "Although her parents claimed that she resided with them and her 2-year-old son, the patient endorsed a recent history of homelessness lasting several months. The patient said that during this period of homelessness, she had been sexually assaulted by a stranger in his hotel room. Collateral revealed that per court order, the patient's continued custody of her son was contingent on her adherence to psychotropic medications and inpatient drug rehabilitation. The patient admitted to using recreational drugs frequently over the past 6 months, including crack cocaine, which she stated she had used during the 1-week interval between hospitalizations.\nDuring her initial mental status examination, the patient was poorly groomed, uncooperative, intrusive, and irritable. Her speech was pressured, and she described her recent sleep as poor. She commented that she intended to become pregnant and to sell the baby to an agency for $6,000. She made religious statements about \"being fruitful and multiplying\" and admitted to recently engaging in hypersexual behavior, explaining that \"I have boyfriends on the streets.\" She underwent testing for sexually transmitted infections, with reassuring results. She declined voluntary inpatient psychiatric admission and was subsequently screened and committed. We discontinued clonazepam at the time of admission, and we restarted the patient on lamotrigine, adding oral aripiprazole to supplement her long-acting injectable aripiprazole.\nDuring her hospitalization, the patient faced several barriers to efficient psychiatric stabilization. First among these was her insistence on refusing any medications that might cause weight gain, including olanzapine. She endorsed allergies to haloperidol, risperidone, lurasidone, and lithium, with symptoms such as \"anxiety,\" \"eye rolling,\" and \"facial twitching\" in response to these drugs. Because she was adherent to oral lamotrigine and aripiprazole, we chose not to seek treatment over objection to administer a stronger antipsychotic medication that would also serve as an effective mood stabilizer. On hospital Day 4, the patient appeared virtually in family court, where she received an ultimatum to cooperate with treatment recommendations in order to maintain custody of her son. Nonetheless, she remained adamant about not being placed on \"weight gainers,\" stating that \"I can have nine more babies. I want to be sexy.\" On hospital Day 6, she tested positive for COVID-19 and was quarantined for 10 days on a medical floor. Her respiratory symptoms included cough and rhinorrhea, and she continued to display manic symptoms, including elated affect, hyperverbality, grandiosity, religious preoccupation, and inappropriate laughter. She exhibited behaviors suggestive of sexual preoccupation, such as raising her shirt during interviews to reveal a protuberant abdomen and repeatedly endorsing a desire to \"stay sexy.\"\nAfter her quarantine, the patient returned to the psychiatric unit with her manic symptoms unresolved. On hospital Day 17, she requested a pregnancy test due to concerns that she might have become pregnant because she \"had sex with a bunch of guys because I was homeless.\" The patient seemed reassured when we explained that her admission pregnancy test was negative. We ordered a new quantitative beta-hCG test, which was likewise negative. On Day 18, the patient received a maintenance dose of long-acting injectable aripiprazole. On Day 19, she complained of abdominal and back pain, stating \"I've been in labor since last night.\" She elaborated that \"I can feel the head in my crotch\" and \"when I lay on my back, I feel the little hands and feet.\" She also stated that her \"water broke\" and her \"mucus plug broke.\" Consistent with the diagnostic criteria for pseudocyesis, the patient exhibited several physical signs and symptoms of pregnancy, including a distended abdomen, intermittent \"pulsating\" bilateral lower abdominal cramps, and sensations of fetal movement. In addition, she endorsed amenorrhea for the past year, except for some \"mild spotting\" three weeks previously. Convinced that her two recent pregnancy tests were \"false negatives\" and frustrated that members of the treatment team did not believe she was pregnant, she threatened to sue the hospital for failing to provide obstetric care. The patient lamented that \"you all think I'm crazy, but I'm actually pregnant.\" At this time, she displayed an intensifying religious preoccupation and stated that she was able to communicate with angels and \"see Jesus.\" She proclaimed that she herself was a prophet who could interpret the \"auras\" of hospital staff.\nThe patient agreed to a pelvic exam, which revealed a distended, nontender abdomen. The uterus was nongravid. The patient received acetaminophen and heating pads, and we ordered a transabdominal ultrasound to better assess the etiology of her abdominal pain and in the hopes of resolving her pseudocyesis via additional evidence of nonpregnancy. At this time, the patient began to refuse all previously prescribed medications because she believed these would harm her \"baby.\" She did, however, agree to begin fluphenazine elixir, which we prescribed to address worsening psychosis.\nWhen she arrived in the ultrasound suite, the patient offered the radiology technologist four million dollars \"if you get this baby right.\" She became euphoric while viewing the ultrasound monitor, exclaiming \"That's a head, and that's a penis!\" Her speech was pressured, and she perseverated on religious themes, requesting that all non-Christian staff leave the suite and instructing staff to \"resist the Devil and he will flee from you!\" She also demonstrated sexual preoccupation, recalling an experience in which she had \"danced after I had sex\" and exclaiming about the size of her \"baby's penis,\" predicting that he would be \"sexy like his daddy.\" After the procedure, the patient happily told fellow patients that she would soon deliver another child. She said, \"I have been having contractions for 19 hr. When the results come back and they find out I am not crazy, they will finally send me to maternity.\"\nAn on-call psychiatry resident presented the radiology report (which revealed no intrauterine gestational sac) to the patient on hospital Day 20. She emphatically refuted the report, articulating a persecutory delusion of a conspiracy waged against her by the treatment team. She stated that the radiologist must have been \"paid off\" to switch her ultrasound with that of another patient. She continued to refuse medications that she felt might harm her \"baby\"; however, she agreed to an increase in her dose of fluphenazine. Following this dose increase, her affect remained labile, with frequent swings between euphoria and irritability, but she ceased making comments indicative of religious and sexual preoccupation. As our hospital is a short-term care facility, we decided to refer the patient to a higher level of care facility. On the day of her discharge, the patient told a nurse that \"I don't think I'm pregnant anymore; it's all the shit I have inside me,\" referring to her constipated bowels.",
"gender": "Female"
}
] |
PMC10733053
|
[
{
"age": 19,
"case_id": "PMC10848886_01",
"case_text": "A 19-year-old male with no past medical history presented to the emergency department with nausea, vomiting, and abdominal distention about 30 minutes after the incidental ingestion of a large amount of Orbeez beads. His presenting vitals were blood pressure of 127/77 mmHg, heart rate of 104 beats per minute, oxygen saturation (SpO2) of 100%, respiratory rate of 18 breaths per minute, and temperature of 98.2 F. Initial blood work including complete blood count, complete metabolic profile, cardiac enzymes, and serum lipase level were unremarkable. Furthermore, a CT scan of the abdomen and pelvis without contrast showed innumerable small, rounded densities diffusely throughout the GIT, most pronounced in the stomach (Figure 1).\nThe patient underwent an emergent esophagogastroduodenoscopy (EGD) which showed LA grade B esophagitis along with innumerable small colored balls (Orbeez) found in the gastric body and fundus (Figures 2A, 2B, 2C).\nThe endoscope was removed, and an overtube with the cap was fitted. The scope and overtube were then reinserted and advanced to the esophagus to aid in foreign body removal. Removal of around 50 to 75 beads was successful using a Roth Net (STERIS, Mentor, USA) but numerous (at least 200 to 300) were remaining. Numerous Orbeez were also found in the duodenal bulb and the second part of the duodenum. Orbeez beads were visualized to be small in size on EGD and were thought to most likely pass on their own with supportive management. Removal of 200-300 more beads via Roth Net would have taken hours, so complete removal was not attempted. The patient tolerated the procedure well and was admitted to monitor for the passing of foreign bodies. During hospitalization, on obtaining a detailed history, the patient reported, waking up at night and unintentionally ingesting beads by drinking from a water bottle. The patient was concurrently being evaluated by a psychiatrist, who suggested unintentional foreign body ingestion, and currently without any suicidal ideation or intent.\nThe patient was kept on polyethylene glycol 3350 to assist with the passing of remaining foreign bodies. The patient's symptoms were improving, he was passing the beads in his stools, and the X-ray of the abdomen showed the progression of innumerable round foreign bodies, measuring up to 0.7 cm in size, from the stomach and small intestine to the colon. After the endoscopy, he experienced multiple bowel movements, with Orbeez beads passing. The patient was discharged with a prescription for polyethylene glycol 3350 for seven days. He was instructed to return to the emergency department in case he experienced a recurrence of symptoms, such as abdominal pain, nausea, or vomiting.",
"gender": "Male"
}
] |
PMC10848886
|
[
{
"age": 17,
"case_id": "PMC11283792_01",
"case_text": "A 17-year-old male was admitted to the emergency department for assessment of pain and enlargement of the left lower extremity for 24 hours. The patient described prolonged rest 3 days before admission to our clinic due to lumbar pain. He had no cardiovascular risk factors and referred no previous personal thrombotic events. At the age of 3, he was diagnosed of hereditary AT deficiency type I (AT activity: 47%, AT antigen: 40%) (reference range 80-120%), mild free and total PS deficiency (45% both) (reference range 70-120%) and prothrombin variant G20210A in heterozygosis, due to the broad thrombotic family history (Figure 1). His father developed a spontaneous thrombosis in the right lower extremity at the age of 30, with PTS associated with venous ulcers. The father is currently on indefinite anticoagulation with VKA due to hereditary AT deficiency and maintains an appropriate international normalized ratio (INR) range (2.5-3.5). No thrombotic recurrences have been reported in 12 years of anticoagulation. His mother carries a type I PS deficiency and the PT G20210A polymorphism in heterozygosis. Neither the mother nor maternal grandfather, sister and maternal aunt carrying these two prothrombotic defects had previous thrombotic events, although the maternal aunt reported 3 miscarriages. \nMolecular characterization of AT deficiency revealed a heterozygous point mutation in intron 5 of SERPINC1 (NM_000488.4): c.1154-14G>A already described in Human Gene Mutation Database (HGMD) in other patients with type I deficiency (CS941423; rs542881762), which creates a cryptic splicing signal in the intron responsible for a variant with four in-frame additional residues that cause intracellular polymerization and traces of disulfide-linked dimers in plasma.\nSequencing of PROS1 revealed a relatively common heterozygous mutation (NM_000313.4): c.1501T>C (p. Ser501Pro), responsible for the PS Heerlen variant (CM951058) that slightly increases the risk of thrombosis.\nIn the emergency department, edema in the left lower extremity as well as pain on mobilization and palpation were objectified. The blood test showed a high reactive C protein (9.27 mg/dL) (reference range <0.50 mg/dL), 19000 leukocytes (reference range 4000-11000) (86% neutrophils) and a D dimer of 84.23 microg/mL (reference range <0.50 microg/mL). The ultrasound revealed an increase in the diameter and echogenic content in the tibial, peroneal, popliteal, femoral, external iliac and common iliac veins, in relation to extensive DVT. Anticoagulation with low molecular weight heparin (LMWH, enoxaparin 1 mg/kg every 12 hours) was initiated. While the patient received heparin, AT replacement (50 IU/kg) to achieve an AT level between 80% and 120% was required to reach an optimal anticoagulation (target anti-Xa activity between 0.7-1.2 IU). For this purpose, anti-Xa activity and AT activity were measured. Abdominal computed tomography (CT) showed a DVT in the left lower limb, reaching the proximal inferior vena cava (IVC) and occupying 50% of the contralateral iliac vein at the confluence area, with moderate soft tissue edema. Also, the thoracic CT angiography findings were compatible with acute segmental PE (Figure 2). \nGiven the high probability of PTS in the setting of extensive DVT, percutaneous treatment was initially proposed. Just before the endovascular treatment, AT supplementation (50 UI/Kg) to reach an AT activity close to 100% was administered.\nAt the beginning of the procedure, an IVC filter was placed, and an ultrasound-guided puncture in the left posterior tibial vein was performed. A multi-side-hole infusion USACDT was placed within the thrombosed segment from the iliac to the distal popliteal (Figure 3). \nTo reduce the risk of bleeding, a low-dose fibrinolytic regime infusion rate of 0.6 mg per hour was used, and it was maintained for 24 hours with a total dose of 16 mg of rt-PA. Anticoagulation with unfractionated heparin was required to ensure an easier anticoagulation adjustment, depending on activated partial thromboplastin time (APTT) and fibrinogen levels.\nIn agreement with the local hospital protocol, during fibrinolytic infusion, fibrinogen should be checked every 4 hours while the patient receives rt-PA. If fibrinogen <200 mg/dl, the rt-PA is reduced to half the dose, while the rt-PA pump should be discontinued if fibrinogen <100 mg/dl.\nThe following day, the control phlebography revealed a significant improvement, with the remains of thrombus in the femoral, common femoral and popliteal veins. A pulse-pressure mechanical thrombectomy was then performed in the affected areas, achieving permeability and adequate flow without residual thrombosis. May-Thurner type venous compression was not confirmed in the final phlebography, so a stent was not required. Before finishing the procedure, the IVC filter was then removed.\nThe patient did not refer pain or bleeding and he initiated VKA (warfarin) together with bridge therapy (LMWH at therapeutic doses). The INR and anti-Xa activity were closely measured (every 12-24 hours) until two determinations in the therapeutic range were obtained. Considering the extensive thrombosis and the triple thrombophilia, we considered an optimal INR range between 2.5 and 3.5.\nNine months later, the angio-CT revealed total resolution of the PE (Figure 4). One year after the acute episode, no DVT in lower limbs was described in control ultrasounds. The patient is currently asymptomatic, and the INR remains in therapeutic range. Due to the high-risk multiple thrombophilia, the patient requires long-term anticoagulation. He referred adequate treatment adherence and no further adverse events have been reported.",
"gender": "Male"
}
] |
PMC11283792
|
[
{
"age": 28,
"case_id": "PMC10539083_01",
"case_text": "Our patient was a 28-year-old female healthcare provider who had presented to a physician with nausea, vomiting, and epigastric pain 5 days after being vaccinated with the Sputnik V vaccine. The patient received routine medications (Figure 1). However, her symptoms did not respond to treatment, and she was referred to our healthcare facility for further evaluation.\nThe patient did not mention any relevant past medical history, underlying diseases, smoking, or alcohol consumption; also, the patient did not mention any special medication or eating habits. Moreover, she had a blood pressure of 120/80 mmHg, a pulse rate of 65 per min, a body temperature of 37 C, a respiratory rate of 22 per min, and no other remarkable finding in her physical examination. Also, she had a high leukocyte count (14,500 per muL, neutrophil percentage: 89%), while other routine tests, including other items of cell blood count (CBC) and differentiation, renal function tests, liver function tests, blood sugar, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and urine analysis, were reported in the normal range. Furthermore, she had elevated levels of anti-SARS-CoV-2 antibody, while she underwent two polymerase chain reaction (PCR) tests for SARS-CoV-2, which were reported negative.\nRegarding intractable vomiting and severe epigastric pain, the patient underwent an endoscopy, which showed severe ulceration and edema in the lower part of the esophagus extending to the whole stomach. Moreover, a large circumferential ulcer was reported in the gastric body and antrum of which multiple biopsies were taken (Figure 2(a)). Also, she was assessed for gastrin levels, which were reported normal, as the Zollinger-Ellison syndrome was suspected. Furthermore, the pathology reported superficial erosive and ulcerative gastritis, active erosive duodenitis, mild colonization with Helicobacter pylori, no dysplasia or neoplasia, and severe inflammation. Moreover, she had leukocyte infiltration in the lamina propria, which was polymorphonuclear-dominant with lower levels of lymphocyte and eosinophil and was associated with red blood cell extravasation and multiple foci of hemorrhage (Figure 2(b)). Finally, the patient was treated with high-dose proton pump inhibitor (PPI, pantoprazole 40 mg QDS) and was discharged after 3-4 days with H. pylori eradication medications.\nIn the following, the patient underwent a follow-up endoscopy three months later due to persistent dyspepsia and epigastric pain. According to the endoscopy report, the esophagus was normal. However, a semicircumferential ulceration with severe edema was reported in the stomach, of which multiple biopsies were taken (Figure 3(a)). Moreover, the pathology reported severe, chronic nonatrophic gastritis with moderate infiltration of lymphocytes and neutrophils in the lamina propria, edema without any dysplasia, neoplastic granuloma, and H. pylori infection (Figure 3(b)).\nConsidering the acute onset of the PUD 5 days after the vaccination and no improvement following treatment for H. pylori or a family history of PUD, the patient's condition was hypothesized to be a rare side effect of the Sputnik V vaccine. The patient received a high dose of pantoprazole and was advised to skip the third dose of the Sputnik V vaccine. Six months after the first endoscopy, the patient underwent another endoscopy, which revealed partial healing of the ulcers.",
"gender": "Female"
}
] |
PMC10539083
|
[
{
"age": 13,
"case_id": "PMC11156995_01",
"case_text": "A previously healthy 13-year-old boy presented to the emergency department (ED) with 1 day history of emesis and headaches. His initial neurological exam was unremarkable. He progressively became unresponsive in the ED, showing signs of increased intracranial pressure with bradycardia, non-reactive pupils, and urinary incontinence. An urgent computerized tomography (CT) scan of the head showed a large suprasellar mass with mass effect on foramen of Munro bilaterally with obstructive hydrocephalus. The mass extended into the region of the Sylvian aqueduct resulting in CSF obstruction, which was relieved by placement of bilateral external ventricular drains (EVDs). On further query, the father reported that the patient has been symptomatic with intermittent headaches associated with nausea and vomiting for the past 6 months.\nAfter stabilization, baseline MRI showed rim-enhancing mass arising from the optic chiasm with mass effect on the pituitary infundibulum and perilesional edema involving the splayed cerebral peduncles and bilateral hypothalamus ( Figures 1A-C ). He was treated with Dexamethasone (1 mg, IV, QID) for increased intracranial pressure over 6 days and subsequently weaned off steroids over a week. Baseline investigations including renal/liver functions and endocrine tests including pituitary and thyroid functions tests were normal except for TSH of 0.3 mU/L (0.7-5.7 mU/L) with normal Free T3 and Free T4 values. The TSH values normalized in the subsequent follow-up visits. A ventriculo-peritoneal shunt was placed in the right lateral ventricle. Biopsy showed a histologically low-grade astrocytoma (WHO, Grade 1). TruSight RNA Pan-Cancer NGS panel showed FGFR1-tyrosine kinase domain internal tandem duplication (FGFR1-KD-ITD) (chromosome 8, exon 18-exon 10). The tumor was negative for BRAF mutation/fusion. Two weeks after biopsy, he presented to the ED with 1-week history of abdominal pain and was diagnosed with abdominal abscess due to VP shunt infection. The shunt was removed. CSF cultures grew Staphylococcus aureus (methicillin sensitive, MSSA). He was subsequently treated with IV antibiotics for 6 weeks.\nOur patient developed hypothalamic obesity due to the location of the tumor and the perilesional edema involving the hypothalamus at presentation ( Figure 1C ). This was clinically manifested by a voracious insatiable appetite and accelerated rate of weight gain (82.1 kg->97% percentile for age and sex) ( Figure 2 ). After a 4-month delay from the initial diagnosis, he was started on erdafitinib 4.7mg/m2/day (Janssen BioAdvance), a pan-FGFR1-4 inhibitor, through a special access program. Four weeks later, he developed nail side effects (discoloration and brittleness) and hyperphosphatemia requiring chelation. Erdafitinib was withheld for a week and restarted as per protocol. At approximately 7 weeks into therapy, he started complaining of intermittent pain in his right leg (knee and ankles), progressing to limping, difficult weight bearing, and complete cessation of ambulation. There was no history of trauma or past history of knee, leg, or hip pain. X-rays of the knee/ankles were reported as normal. At approximately 12 weeks of treatment, the persistent knee pain was suspected to be due to pathology of the hip with referred pain to the knee. X-ray of the hips ( Figure 1D ) showed slipped capital femoral epiphysis (SCFE) of the right hip. Erdafitinib was discontinued, and he underwent surgery with in situ pinning of the right hip and prophylactic pinning of the left hip (to prevent SCFE) ( Figure 1E ). MRI of the brain at the time of discontinuation of the medication showed a 30% decrease in the size of the tumor, which has remained stable on two subsequent follow-up MRIs.",
"gender": "Male"
}
] |
PMC11156995
|
[
{
"age": 26,
"case_id": "PMC10951098_01",
"case_text": "All but one owner in the current study cited difficulty in administering a daily oral medication as a reason to commence ERC treatment. All owners reported good compliance with ERC treatment. A study in Australia estimated that almost 70% of horses over 15 years of age lived exclusively at pasture, suggesting ageing horses are managed less intensively, which may make it more challenging and less appealing to medicate them daily in feed or by mouth. The extended-release nature of cabergoline offers an advantage in cases where daily administration of pergolide presents challenges with practicality and, therefore, compliance. Compliance in human and veterinary medicine is an emerging area of research in which equine medicine lags behind, with few studies having been performed. One report found that horse owners were less compliant compared to small animal owners, and veterinarians significantly overestimated client compliance. This is further supported by a recent survey from the UK, which compared the amount of pergolide used with the amount that should have been dispensed and showed that compliance was very poor, with only 48% of owners purchasing >=90% of the amount required to supply the prescribed dose. This study also found that age and breed had a significant effect, with compliance being extremely low in owners of Shetland ponies and horses >=26 yrs old. Previous studies have also demonstrated that routine health care was less frequently performed in aged animals, suggesting that owners may be less committed to, and compliant with, healthcare recommendations in older horses. In addition to reducing the time and effort involved in treating PPID, the ERC injection allows for precise dosing, which may also offer advantages over pergolide tablets in smaller ponies where splitting of tablets may pose challenges for owners and potentially reduce compliance.\nThe HDERC initially used in this study was based on previous studies in horses. One report compared the effects of this 0.01 mg/kg dose of cabergoline (a different formulation to the one used in the current study) and pergolide on prolactin concentration and demonstrated that the suppressive effects of cabergoline lasted at least 10 days compared to an intra-muscular injection of pergolide, which only produced 24 h of suppression. Following injection every 10 days, cabergoline has also been shown to suppress plasma MSH concentrations. The authors' anecdotal experience of using the ERC preparation used in the current study suggests a rapid onset of action and variable duration of effect, with ACTH concentration dropping within a few days and remaining suppressed for up to 2 weeks. In most horses, ACTH concentration appears to start to increase after 7 to 10 days hence the recommended 7 days treatment interval. Pharmacokinetic and pharmacodynamic studies of ERC in horses are required to determine the optimal dosing regimen. Preliminary observations from this study suggest the LDERC might be more appropriate for further study than the HDERC, as clinical responses were similar and there were less unwanted effects. Adverse events were noted in both groups; however, fewer cases of anorexia were reported in the LDERC compared with HDERC (30.0% vs. 60%), albeit case numbers were small. Anorexia is also reported following pergolide administration; however, in this study, some horses demonstrated anorexia following pergolide administration but not ERC and vice versa. It is unclear why this is the case. Despite the variability which exists, ERC may offer an alternative treatment for horses which are unable to tolerate pergolide due to adverse effects.\nPrevious studies investigating the use of ERC in normal horses have not reported any adverse effects. In all cases where partial anorexia was reported in the current study, the owners observed that horses had a preference for long-stem forage (hay or grass) over cereal-based feeds. In humans, the use of dopaminergic agonists has been associated with feelings of nausea, which may explain the reduction in feed intake in horses. A significant reduction in feed intake has also been observed in dairy cows following a single injection of ERC. The reduction in prolactin concentration that occurs with cabergoline administration may suppress appetite, as prolactin has been shown to stimulate food intake in other species. The two horses that suffered from anorexia for longer than 24 h had significant dental disease, both having lost several molars and having had incisors extracted for the treatment of equine odontoclastic tooth resorption and hypercementosis, a common disorder affecting older horses. As a result, neither were able to chew long-stem forage. Whilst anorexia from pergolide administration might be resolved by abruptly reducing the dose, the long-acting nature of ERC does not allow for such rapid drug withdrawal. Until further investigations are performed, veterinary surgeons should be cognisant of the possibility that ERC may have a more profound effect on feed intake in horses with significant dental pathology.\nThis study provides preliminary data and is limited by retrospective data collection, lack of an untreated control or placebo group, small sample size, and short follow-up period. However, the results suggest that once weekly injection of extended release cabergoline may be an effective treatment for horses with PPID and provides a basis for designing more robust investigations. A dose of 0.005 mg/kg may be more appropriate for the treatment of PPID than the 0.01 mg/kg dose that has been reported in horses previously. Larger, blinded, randomised clinical trials and studies on the pharmacokinetics and pharmacodynamics of ERC are warranted.",
"gender": "Unknown"
}
] |
PMC10951098
|
[
{
"age": 24,
"case_id": "PMC11041977_01",
"case_text": "A 24-year-old female presented to the ED from a local nursing home with right-sided Epistaxis. The patient had a spontaneous episode of large volume hemorrhage prior to transport. When the Emergency Medical Transport (EMT) team arrived to transport her to the hospital, they described her sitting in a pool of blood with an estimated 2 liters of blood loss. Her vitals were reportedly stable at the time. By the time the patient arrived to the hospital, the Epistaxis had stopped without any intervention. The patient had 2 prior episodes of Epistaxis, within the preceding 30 days which were not as severe, and therefore medical evaluation was not sought at the time.\nHer past medical and surgical history was significant for traumatic brain injury due to a gunshot wound to the head six months prior, with complete right-sided paralysis associated with left cerebral hemisphere injury. She was noted to have left-sided extracranial cerebral herniation in the area of impact (Figure 3), and a subarachnoid hemorrhage (Figure 4) in addition to a subdural hematoma on initial CT imaging. Given the severe impact, she also developed multiple skull base fractures on the right side including the sphenoid wall laterally (Figure 5: axial view) (Figure 6: sagittal view) and anteriorly (Figure 7), the medial wall of the maxillary sinus and the medial sphenoid septum (Figure 8). She subsequently underwent emergent decompression with left-sided craniectomy and subdural hematoma evacuation. Bullet fragments were left in their place in the left skull base and left frontal lobe and not extracted to the complexity of the injury. Prior to the gunshot wound, the patient had no medical-related history. A Ventriculo-peritoneal (VP) shunt placement a week later due to right-to-left cerebral herniation with a 13mm midline shift secondary to elevated intracranial pressures with dilated ventricles and no new hemorrhage (Figure 9). \nOn arrival to the ED, the patient was found to be in shock with a heart rate of 135 and a blood pressure of 74/48. Her temperature was 37 C, she was tachypneic on her ventilator with a respiratory rate of 48 breaths per minute, saturating 100% on pulse oximetry, was pale and ill-appearing. She was unable to provide history due to tracheostomy-dependent status. The patient's clothes and bed sheets from transport were soaked in blood. She had physical evidence of a prior left-sided craniectomy on exam and had obvious neurologic deficits including paralysis of the right body, and left-sided eye misalignment. Upon inspection of both nares, no active hemorrhage was noted, and no potential source of bleed was found either. When evaluating the patient's oropharynx using a tongue depressor, the patient gagged and expelled about 300 mL of blood from her oral cavity. Her blood pressure was remeasured and was found to be 51/28, and the patient's heart rate had increased to 145 beats per minute.\nA Cordis sheath introducer was inserted in the right femoral vein, and 2 units of uncrossed matched blood were administered. With the administration of blood products, the patient's hemodynamics began to stabilize, and the patient ceased to expel anymore blood. Within 10 minutes of stabilization, a computed tomography (CT) image of the head was completed, which revealed a progressive, expansile heterogeneous density mass in the posterior right ethmoidal sinus measuring 4.4 cm in diameter (Figures 10 and 11). Due to lack of specialist coverage at the hospital providing initial care, Otolaryngology (ENT) and Emergency Medicine physicians were consulted at a nearby hospital, which the patient was transferred to for further management. \nInitial lab work revealed a hemoglobin of 9.4 (g/dL) prior to administration of blood products (previously 10.4), Leukocyte count of 17.7 (k/uL), and a platelet count of 529 (k/uL). Her Prothrombin time was 15.3 (seconds), and international normalized ratio (INR) was 1.4.\nThe patient arrived to the receiving ED tachycardic with a heart rate of 122, but otherwise stable with a blood pressure of 106/69, respiratory rate of 20, saturating 100% on her standard ventilator settings. She remained afebrile. Otolaryngology was consulted immediately and performed nasal endoscopy at the bedside, which revealed a worrisome pulsating mass projecting into the nasal cavity posteriorly without active hemorrhage. Absorbable Sinufoam was placed in the right nares to prevent adhesion formation. A CTA of the head was obtained which illustrated the pseudoaneurysm of the cavernous portion of the internal carotid artery without evidence of contrast extravasation.\nThe new set of blood work at the receiving hospital revealed a hemoglobin of 11.7, increased from the initial 9.4 after blood product administration. Neurosurgery and endovascular neurology were emergently consulted and upon reviewing historical images when the trauma took place, the pseudoaneurysm was seen penetrating from the previously fractured right lateral sphenoid wall and area of other bony fractures. It was evident that the mobilization of the internal carotid artery due to skull fractures near the cavernous sinus after penetrating trauma led to the pseudoaneurysm growth. Due to the severity of her illness, the decision was made to proceed with formal angiography and possible endovascular intervention.\nThe patient was taken to the operating room on the same day. Cerebral angiogram revealed the large pseudoaneurysm and confirmed its origin from the cavernous portion of the carotid artery (Figure 12). Given that the left cerebrum had severe dysfunction along with vascular compromise from the initial trauma, balloon occlusion testing of the right carotid artery was not performed as salvage therapy of the functional cerebral hemisphere was the main priority. The patient's aneurysmal sac was accessed using an SL10 microcatheter along with 014 Synchro soft wire. ONYX embolization was performed, followed by endovascular coiling with Raymond-Roy Occlusion Classification (RROC) grade I in case the Onyx was unsuccessful (Figure 13). During the procedure, there was a daughter sac measuring 6.5 mm that was found and felt to be the point of rupture causing hemorrhage. The patient returned to baseline after reversal of anesthesia, and no operative complications were noted. The patient had neurologic examinations performed every 1 hour which did not reveal any new positive findings and was discharged the next day back to nursing home. At her 1 month follow-up, repeat CT angiography revealed patency of the internal carotid artery and persistent occlusion of the pseudoaneurysm (Figure 14).",
"gender": "Female"
}
] |
PMC11041977
|
[
{
"age": 40,
"case_id": "PMC10583501_01",
"case_text": "A 40-year-old African American man was referred by an orthopedic surgeon to our endocrinology clinic for hypocalcemia treatment before right hip replacement for severe osteoarthritis. He had previously been told that he had hypocalcemia after a car accident, but he did not follow-up. He had chronic pain in both hips, which limited his daily activities; he could not flex his back, because of back and hip stiffness; he also had lumps in his head, arms, and legs, which he indicated were increasing in size and number. The patient had no other significant past medical history or other congenital problems, and his family history is negative for hypocalcemia; he had one elder sister, who was healthy. On physical examination, his body mass index was 34.3 kg/m2 and he was found to have a round face, and several subcutaneous nodules on his scalp, hands, and legs (Figure 1). His thyroid gland was not enlarged. He used a cane to walk; he could not sit on a chair because he was unable to flex his back; and he had a substantially limited range of motion in both hips.\nLaboratory findings indicated low calcium <5 mg/dL (reference range (RR): 8-10.6 mg/dL), low ionized calcium of 0.7 mmol/L (RR: 1.13-1.32 mmol/L), high phosphorus of 6.2 mg/dL (RR: 2.3-5 mg/dL), elevated alkaline phosphatase of 161 u/L (50-136 u/L), albumin of 3.7 g/dL (RR: 3.4-5.4 g/dL), GFR > 120 mL/min/1.73 m2 (RR: >60 mL/min/1.73 m2), elevated intact PTH of 327 pg/mL (RR: 15-69 pg/mL), elevated TSH of 11.7 mIU/L (RR: 0.5-4.5 mIU/L), FT4 of 1 ng/dL (RR: 0.82-1.77 ng/dL), and serum 25-hydroxy vitamin D 34 ng/mL (RR: >30 ng/mL). He had normal levels of follicular-stimulating hormone (FSH), lutenizing hormone (LH), testosterone, insulin-like growth factor 1 (IGF-1), and cortisol. His 24-hour urine calcium was low, at 86 mg/d (RR: 100-300 mg/d). GNAS gene analysis was not covered by the patient's medical insurance. Hand X-ray revealed brachydactyly of all metacarpal bones and soft tissue calcifications (Figure 2).\nA brain CT showed dense calcifications in the subcortical region, bilateral basal ganglia, bilateral thalami, bilateral cerebellum, and vermis, as well as soft tissue calcifications in the scalp with diffuse osteoporosis of the calvarium and skull base (Figure 3). A dual energy X-ray absorptiometry was requested but not approved by the patient's medical insurance.\nThe new signaling disorder approach suggested by The EuroPHP network was applied to the patient. The patient was found to have three major criteria (PTH resistance, ectopic ossifications, brachydactyly) and three minor criteria (TSH resistance, obesity/overweight, flat nasal bridge and/or round face; Table 2).\nBased on that, he was diagnosed with inactivating PTH/PTHrP signaling disorder (iPPSD); and treatment with calcitriol (0.25 microg every 12 h), calcium carbonate (1.2 g every 8 h), and levothyroxine (50 microg daily) was initiated.\nWhen the patient was then followed up after 2 months; his level of activities and body aches had significantly improved; the calcitriol dose was gradually increased to 1.5 microg per day; and calcium carbonate was decreased to 1.2 g every 12 h. Six months following treatment, his calcium level increased to 7.6 mg/dL (RR: 8-10.6 mg/dL), albumin-adjusted calcium 7.8 mg/dL (RR: 8-10.6 mg/dL), intact PTH decreased to 90 pg/mL (RR: 15-69 pg/mL), phosphorus increased to 6.5 mg/dL (RR: 2.3-5 mg/dL), TSH decreased to 4.3 (RR: 0.5-4.5 mIU/L), and FT4 increased to 1.4 ng/dL (RR: 0.82-1.77 ng/dL). A written informed consent was obtained from the patient for publication purpose.",
"gender": "Male"
}
] |
PMC10583501
|
[
{
"age": 4,
"case_id": "PMC11272527_01",
"case_text": "Our index patient is a 4-year-old girl who has been noted to have multiple cafe-au-lait spots since the neonatal period. She had no family history of neurofibromatosis or multiple cafe-au-lait macules. A clinical genetics evaluation was arranged for the family at the time, but the clinic visit was not attended by the parents. At 3 years of age, the patient presented with nocturia, urinary frequency up to over 12 times per day, and frequent bowel opening. Physical examination revealed a child with multiple cafe-au-lait macules over the trunk and back and a congenital hyperpigmented nevus measuring 4 cm x 3 cm over the lower trunk ( Figure 1 ), while a pelvic mass was palpable on abdominal examination. Contrast computed tomography demonstrated a heterogeneously and mildly enhancing mass measuring 5.0 cm x 2.7 cm x 8.7 cm at the posterior wall of the urinary bladder. The mass has multiple cystic components and involves the bladder trigone. Both the distal ureters and posterior urethra were closely related to the mass. Magnetic resonance imaging (MRI) of the brain performed showed no abnormality apart from mild thickening of the bilateral maxillary sinus mucosa. Tumor markers including alpha-fetoprotein, beta-human chorionic gonadotrophin, and urine catecholamines were not elevated. A bone marrow examination showed no abnormal infiltration. Blood was taken for exome sequencing, which later identified a heterozygous deleterious variant in the NF1 gene [c.499_502del p.(Cys167Glnfs*10)], confirming the diagnosis of NF-1.\nTo obtain a tissue diagnosis, a cystoscopy was performed, showing a large reddish growth with cystic areas at the posterior wall, involving the right urinary orifice and trigone. A punch biopsy was taken but was nondiagnostic, yielding only the superficial urothelium and subjacent tissue. An ultrasound-guided core biopsy of the tumor was performed with nine biopsy cores taken, and the pathology revealed predominantly Schwannian spindle cell proliferation in collagenous stroma ( Figure 2A ). There are scattered clusters of mature ganglion cells associated with maturing neuroblastic cells ( Figure 2B ). Immunostaining confirms Schwannian stroma with a strong and diffuse reaction for S100, while the ganglionic and maturing neuroblastic cells are positive for synaptophysin and the neuroblastic marker PhoxB2 ( Figure 2C ). The pathological diagnosis was ganglioneuroma, a maturing subtype.\nDue to its involvement in the trigone area, surgery for upfront resection of the tumor was deemed to be unacceptably extensive. As the patient experienced significant urinary and bowel symptoms prior to the availability of genetic confirmation for NF-1, the patient was first started on a mammalian target of rapamycin (mTOR) inhibitor sirolimus, based on in vitro studies suggesting treatment response of ganglioneuroma to mTOR inhibitor. Nonetheless, the patient had persistent symptoms despite the use of sirolimus. A follow-up MRI of the pelvis performed 6 months after the commencement of sirolimus ( Figures 3A, C ) also indicated a mild interval increase in the size of the main bulk of the posterior bladder tumor (50.3 mm x 42.6 mm x 18.8 mm). The tumor extension toward the trigone measured 24.0 mm. With the diagnosis of NF-1, the patient was switched over to trametinib at the dose of 0.5 mg daily (0.03 mg/kg/day) after a 6-month course of sirolimus. Around 2 months into her trametinib treatment, the patient experienced an improvement in nocturia and had normalization of bowel habits. Interval MRI pelvis showed a gradual reduction in tumor size. Her latest MRI was performed 10 months after initiation of trametinib, showing an interval decrease in tumor extent with less involvement over the left side ( Figures 3B, D , dimension: 48.0 mm x 31.0 mm x 11.9 mm). The extension toward the trigone also shrank to 22.5 mm. In her latest follow-up, after 15 months of treatment with trametinib, the patient's urinary frequency has resolved and the bowel opening has normalized. The side effects of trametinib, namely dry skin and alopecia, were tolerable. Physical examination revealed no palpable pelvic mass, and the cafe-au-lait macules also became fainter in color, while the melanocytic nevus remained static in size and pigmentation.",
"gender": "Female"
}
] |
PMC11272527
|
[
{
"age": 75,
"case_id": "PMC10481807_01",
"case_text": "A 75-year-old female patient was referred to our institution with chronic upper gastrointestinal symptoms. A computed tomography (CT) scan of the abdomen and chest revealed a well-demarcated, ovoid nodule in the right, lower lobe of the lung measuring 17 mm. She had a remote history of hysterectomy for endometrial sarcoma 26 years ago. A transbronchial fine needle aspiration biopsy and rapid on-site assessment of smears were performed. The smears were moderately cellular comprising very uniform population of small, round to oval cells with very scant cytoplasm disposed as single cells and occasional clusters associated with occasional metachromatic matrix [Figure 1a and b]. The Papanicolaou stain showed cells with moderately hyperchromatic nuclei with evenly distributed chromatin and inconspicuous nucleoli. The cell block showed groups of small cells arranged around thin-walled vessels and eosinophilic and hyaline matrix. There were no mitoses, necrosis, or hemorrhage [Figure 1c and d].\nQ1. What is the most likely diagnosis?\nLung hamartoma\nNon-Hodgkin lymphoma\nSmall cell carcinoma\nCarcinoid tumor\nMetastatic low-grade endometrial stromal sarcoma (ESS)\nAnswer to Q1: Option e\nExplanation: The cytologic features of lung hamartoma are characterized by paucicellular smears, prominent chondroid matrix, bronchial epithelial cells, sheets of small round cells, and occasionally fat cells. In our case, there were no bronchial cells, cartilage, or adipose tissue. The small round cells with hyperchromatic nuclei mimicked a non-Hodgkin lymphoma. However, the presence of cohesive cell groups and absence of lymphoglandular bodies make this diagnosis unlikely. Small cell carcinoma was ruled out by the absence of nuclear molding, chromatin smearing, necrosis, and mitoses.\nMetastatic ESS lacks any characteristic features on cytology and is frequently mistaken for a benign lesion or carcinoid tumor. A history of hysterectomy 26 years ago in our patient is an important clue to the diagnosis. The cytology smears were characterized by small, round to oval cells with no visible cytoplasm and no definite pattern of the arrangement of the tumor cells. Spindle cells were not evident and necrosis, mitoses, and hemorrhage were absent.\nESS is a very rare tumor of the endometrium comprising 1.0% of all uterine malignancies. The current World Health Organization classifies these groups of neoplasms into four distinct categories: Endometrial stromal nodule, low-grade ESS, high-grade ESS, and undifferentiated uterine sarcoma. Low-grade ESS accounts for 86% of all ESS and usually affects perimenopausal women. The tumor is characterized by tongue like invasion into the myometrium. Microscopically, the tumor resembles proliferative phase endometrium with small to oval cells surrounding blood vessels and low mitotic index. Late recurrence and metastasis can occur even in early-stage disease requiring long-term follow-up. Distant metastasis to the lung is typically in the form of multiple nodules.\nQ2. Which immunohistochemical panel would be best to confirm the diagnosis of low-grade ESS?\nChromogranin, synaptophysin, CK5/6, INSM1, and ki67\nCK7, TTF1, Napsin A, p63, and p40\nCD10, ER, PR, WT1, AR, and interferon-induced transmembrane protein 1 (IFITM1)\nP16, desmin, SMA, and beta-catenin\nAnswer: c\nExplanation: There is no single marker that is specific for low-grade-ESS; the use of a panel of immunohistochemical markers can help in making the diagnosis besides detailed clinical history. The tumor is typically positive for CD10, ER, PR, WT1, AR, and IFITM1. The neuroendocrine and smooth muscle markers were negative in our case [Figure 2].\nQ3. What is the most common cytogenetic abnormality associated with low-grade ESS?\nt(7;17) (p16;q21)\nt(6;7) (p21;p15)\nt(10;17) (q22;p13)\nt(x;17)(p21-p11;q23)\nAnswer: a\nExplanation: Different types of chromosomal abnormalities have been described in low-grade ESS and cytogenetic analyses have been used to confirm the diagnosis. Different types of translocation have been reported with t(7;17) translocation being the most distinctive cytogenetic hallmark of low-grade ESS with fusion of two genes JAZF1 and SUZ12 (2, 3).\nQ4 What is the most common site of metastasis of lowgrade ESS besides lung?\nBone\nKidney\nBrain\nAbdomen\nAnswer: d\nExplanation: The lung and abdomen are the most frequent sites of metastasis and recurrence.\nOur case was discussed at the multidisciplinary conference for further management. Due to her age and oligo metastatic disease, the patient opted for close follow-up, and anti-hormonal therapy was recommended.\nEndometrial stromal tumors are rare tumors that arise from the endometrial stroma. Low-grade ESS typically occurs in perimenopausal women and has a very indolent course with excellent prognosis. Distant metastasis can develop many decades after the initial diagnosis. Pulmonary metastasis from low-grade ESS usually manifests as multiple nodules. Very rarely, however, it can present as a solitary lesion, which can pose significant diagnostic dilemma. Due to its rarity and bland appearance, low-grade ESS has been mistaken for benign lesions or inflammatory processes. The diagnostic dilemma is even more challenging in cytology specimen and small biopsies.\nThe cytologic features of metastatic low-grade ESS have rarely been described in the literature since it is rarely subjected to fine-needle aspiration. In the lung, it has been mistaken for carcinoid tumor, hamartoma, and endometriosis. A predominance of bland spindle cells can also be mistaken for leiomyoma and other benign spindle cell neoplasms.\nThe diagnostic challenges of low-grade ESS in cytology have been emphasized by others, and in most case reports of metastatic low-grade ESS, a definite diagnosis was achieved only after performing molecular studies. Zaharopoulos et al. first described a case of ESS that metastasized to the lung. The fine-needle aspiration biopsy of the lung lesion revealed small cells with scant cytoplasm and low mitosis. An ultrastructural study was performed which confirmed the diagnosis of metastatic ESS. Satoh et al. emphasized the diagnostic dilemma of metastatic low-grade ESS in transbronchial fine-needle aspiration (FNA) cytology where the initial diagnosis was thought to be a non-neoplastic lesion. On surgical resection, a diagnosis of pulmonary endometriosis was considered due to the presence of bland and round to oval cells with positive expression for ER and PR. There was no previous history of gynecologic malignancy; however, a cytogenetic and FISH analysis demonstrated a t(7;17) translocation, which confirmed the diagnosis of ESS.\nRonen et al. reported a case of metastatic ESS in a patient who presented with multiple lung nodules. The FNA smears showed bland, oval to spindle cells with moderate cytoplasm, and delicate vessels, but no matrix component. The differential diagnosis included carcinoid tumor and diffuse neuroendocrine hyperplasia; however, the IHC stains for neuroendocrine markers were negative, and CD10 was positive. A definitive diagnosis could not be rendered because of the limited nature of the cytology specimen. The nodule was subsequently resected, and histology revealed tumor cells with smooth muscle differentiation and positive staining for ER, PR, and desmin. On further clinical investigation, a history of recent hysterectomy for fibroids at another hospital was obtained. On re-review of slides from the hysterectomy specimen, a small focus of low-grade ESS with similar morphology to the lung metastasis was noted confirming the diagnosis.\nMindiola-Romero et al. described a similar clinical scenario of low-grade ESS metastatic to the lung in a patient who presented with multiple lung nodules. A CT-guided core biopsy with rapid on-site assessment demonstrated cells with oval and spindled nuclei with mild-to-moderate atypia and scant matrix component. The core biopsy demonstrated bland spindle cells. Immunohistochemical workup for spindle cell neoplasms was performed using markers for desmin, S100, STAT6, CD34, and SOX-10 which were all negative. This prompted a molecular analysis that detected a fusion between exon3 of JAZF1 and exon 2 of SUZ12 supporting the diagnosis of low-grade ESS. Subsequently, immunohistochemical stains for ER, PR, and CD10 were positive corroborating the diagnosis. On further clinical investigation, the patient had a history of hysterectomy 25 years ago for ESS.\nMetastatic low-grade ESS presenting as a solitary lung nodule as observed in our case is very rare. The predominance of small, round to oval cells with bland nuclei was thought to be consistent with a carcinoid tumor. Negative expression for neuroendocrine markers prompted review of the previous clinical history and additional IHC workup. Positive expression for ER, PR, CD10, and WT1 markers and a remote history of hysterectomy 26 years ago for endometrial sarcoma facilitated in making the right diagnosis. It must be emphasized that none of the above markers are specific for ESS; however, positive staining for WT1 has been shown to be a useful marker for differentiating extrauterine ESS from other potential mimics. IFITM1 is a novel marker for endometrial stroma cells with a higher specificity than CD10.",
"gender": "Female"
}
] |
PMC10481807
|
[
{
"age": 81,
"case_id": "PMC10729848_01",
"case_text": "In June 2023, an 81-year-old male patient (body height: 163.0 cm, body weight: 56.7 kg, body mass index [BMI]: 21.3) was transferred to our clinic to continue his DM treatment. His previous history was unremarkable. His mother was being treated for T2D and he was also originally diagnosed with T2D when he was aged 50 years.\nOn the first visit to our clinic, the patient's casual peripheral blood laboratory findings were as follows: aspartate transaminase (AST) 18 IU/L (normal range, 10-40 IU/L), alanine transaminase (ALT) 13 IU/L (normal range, 5-45 IU/L), gamma-glutamyl transpeptidase (GTP) 11 IU/L (normal range, 0-79 IU/L), triglycerides (TGs) 3.18 mmoL/L (282 mg/dL) (normal range < 1.98 mmoL/L [<175 mg/dL]), high-density lipoprotein (HDL) 0.98 mmoL/moL (38 mg/dL) (normal range, 1.0-2.1 mmoL/moL [40-80 mg/dL]), low-density lipoprotein (LDL) 1.73 mmoL/L (67 mg/dL) (normal range, 1.81-3.59 mmoL/L [70-139 mg/dL]), blood urea nitrogen (BUN) 5.5 mmoL/L (15.4 mg/dL) (normal range, 2.86-7.14 mmoL/L [8.0-20.0 mg/dL]), serum creatinine (Cre) 97.2 mumol/L (1.1 mg/dL) (normal range, 57.5-96.4mumol/L [0.65-1.09 mg/dL]), estimated glomerular filtration rate (eGFR) 50.0 mL/min/1.73m2, uric acid (UA) 327.1 mumol/L (5.5 mg/dL) (normal range, 214.1-416.4 mumol/L [3.6-7.0 mg/dL]), sodium (Na) 142 mmoL/L (142 mEq/L) (normal range, 135-145 mmoL/L [135-145 mEq/L]), potassium (K) 5.0 mmoL/L (5.0 mEq/L) (normal range, 3.5-5.0 mmoL/L [3.5-5.0 mEq/L]), chloride (CL) 106 mmoL/L (106 mEq/L) (normal range, 98-108 mmoL/L[98-108 mEq/L]), serum amylase 72 IU/L (normal range, 39-134 IU/L), white blood cell count (WBC) 6790/mL (normal range, 3500-9700/mL), red blood cell count (RBC) 552 x 104/mL (normal range, 438-577/mL), Hb 138 g/L (13.8 g/dL) (normal range, 136-183 g/L [13.6-18.3 g/dL]), hematocrit (Hct) 0.439/L (43.9%) (normal range, 0.405-0.519/L [40.5%-51.9%]), platelet 20.7 x 104/mL (normal range, 14.0-37.9/mL), urinary albumin/creatinine ratio (UACR) 28.9 mg/g (normal range, < 30 mg/g), casual plasma glucose (PG) 5.88 mmoL/L (106 mg/dL), and casual serum insulin 8.2 muU/mL. His urine was negative for glucose, protein, and ketone body, and RBCs and WBCs were not detected in the urine sediment.\nChest x-ray examination and electrocardiogram were normal. He had simple diabetic retinopathy and bilateral light numbness in the lower limbs due to diabetic neuropathy.",
"gender": "Male"
},
{
"age": 55,
"case_id": "PMC10729848_02",
"case_text": "In June 2023, a 55-year-old female patient (body height: 158.0 cm, body weight: 61.2 kg, BMI: 24.5) was also transferred to our clinic to continue her DM treatment. She had previously been treated for hypertension and hypercholesteremia using bisoprolol fumarate and rosuvastatin calcium, respectively. In her family, her daughter is being treated for T1D. She was diagnosed with T2D at age 48 years.\nOn her first visit to our clinic, her casual peripheral blood laboratory findings were as follows: AST: 14 IU/L, ALT: 17 IU/L, gamma-GTP: 13 IU/L, TGs: 0.94 mmoL/L (83 mg/dL), HDL: 1.6 mmoL/L (62 mg/dL), LDL: 2.48 mmoL/L (96 mg/dL), BUN: 5.14 mmoL/L (14.4 mg/dL), Cre: 45.1 mumoL/L0.51 mg/mL, eGFR: 114.0 mL/min/1.73m2, UA: 160.5 mumoL/L (2.8 mg/dL), Na: 142 mmoL/L (142 mEq/L), K: 3.9 mmoL/L (3.9 mEq/L), CL: 103 mmoL/L (103 mEq/L), serum amylase: 60 IU/L, WBC: 5160/mL, RBC: 459 x 104/mL, Hb: 133 g/L (13.3 g/dL), Hct: 0.405/L (40.5%), platelet: 30.1 x 104/mL, UACR: 13.9 mg/g; casual PG: 148 mg/dL, and casual serum insulin: 12.0 muU/mL. The urinalysis result was negative for glucose, protein, and ketone body, and no RBCs or WBCs were detected in the urine sediment.\nA chest x-ray examination and electrocardiogram revealed no abnormalities. She did not have diabetic neuropathy and retinopathy.\nThe patient had never had diabetic ketoacidosis and had never been treated with insulin until today. A screening examination in our clinic revealed that his antiglutamic acid decarboxylase (GAD) antibody level was 14.3 U/mL (normal range <5.0 U/mL). According to the diagnosis criteria for LADA as described earlier, we rediagnosed his diabetes as LADA.\nThe patient had no diabetic ketoacidosis and was never administered insulin. Screening examination in our clinic revealed that her anti-GAD antibody level was 111.5 U/mL (<5.0 U/mL). According to the diagnosis criteria for LADA as described earlier, we rediagnosed his diabetes as LADA.",
"gender": "Female"
}
] |
PMC10729848
|
[
{
"age": 65,
"case_id": "PMC10838210_01",
"case_text": "A 65-year-old male presented for evaluation of bilateral gynaecomastia, loss of libido, agitation, and cough since 5 months. He had a medical history of alcohol abuse requiring multiple admissions to psychiatry since 2015 and a 50 pack-year history of smoking. Eastern Cooperative Oncology Group (ECOG) performance status is 0. Physical examination revealed no testicular masses and no clinically enlarged lymph nodes, including supraclavicular palpation. Chest examination showed bilateral vesicular breath sounds. Labs were significantly high for beta-hCG levels of 8.16 U/L (Ref < 0.10 U/L) and HCG levels of 491 U/L (Ref < 6 U/L) and elevated for oestradiol of 126 ng/L (Ref 11-44 ng/L), progesterone of 1.3 mug/L (Ref 0.1-0.2 mug/L), and testosterone levels of 44.5 nmol/L (Ref 7.66-24.82 nmol/L), i.e., hypergonadotropic hypergonadism. Other tumor markers that were measured (alpha-fetoprotein, neuron specific enolase, and carcinoembryonic antigen) were within normal limits. A scrotal ultrasound could not reveal any testicular or intrascrotal lesion suspicious for malignancy. The high beta-hCG prompted the initial suspicion of and further investigations for an extragonadal germ cell tumor. A computed tomography (CT) scan of the thorax, abdomen, and pelvis was performed which disclosed bilateral pulmonary masses (n = 3) arising from the lung parenchyma with the greatest mass measuring 12 cm in the right lower lobe (Figure 1). An MRI of the brain revealed a solitary metastasis in the right parieto-occipital region with a nodular component of 2.7 cm and perilesional edema. 18F-FDG PET/CT showed no other metastatic lesions. Two CT-guided transthoracic core needle biopsies of the lung mass in the right lower lobe were subsequently performed.\nMicroscopic pathological result is malignant with extensive tumor necrosis (Figure 2). IHC results are as follows: HCG(+), SALL4(+), GATA3(+), p40(+), pankeratin (CK pan)(+), thyroid transcription factor 1 (TTF-1)(-), and D2-40(-). Next-generation sequencing with Oncomine focus assay on 35 clinically relevant genes for NSCLC showed no pathogenic mutations, including no EGFR driver mutation or fusion transcript with Idylla gene fusion assay. The tumor has programmed cell death-ligand protein 1 (PD-L1) expression with a tumor proportion score (TPS) of 10%.\nAfter discussion by our multidisciplinary team including medical oncologist, pneumologist, radiation oncologist, and radiologist, a combination regimen of chemotherapy and immunotherapy was adopted: carboplatin, etoposide, and pembrolizumab. He successfully completed 4 cycles of carboplatin-etoposide (carboplatin AUC 5 on day 1, every 21 days; etoposide 200 mg on day 1, every 21 days) and pembrolizumab (200 mg on day 1, every 21 days). His beta-hCG decreased to normal values 3 months after the initiation of chemoimmunotherapy (Figure 3). Follow-up CT scans showed good partial response to therapy of the soft-tissue metastases according to the Response Evaluation Criteria in Solid Tumors version 1.1 (RECIST v1.1) with a >=30% decrease of the sum of the longest diameter of the pulmonary masses and brain metastasis. The patient was subsequently offered radiosurgery of the solitary brain metastasis using 3 x 8 Gy, but he refused this therapeutic modality.",
"gender": "Male"
}
] |
PMC10838210
|
[
{
"age": 58,
"case_id": "PMC11330855_01",
"case_text": "On October 8, a 58-year-old man experienced dizziness without obvious causes, accompanied by unsteady standing, nausea, vomiting, and diarrhea for several times, and was admitted to the emergency department for symptomatic treatment.\nThe patient was diagnosed with nasopharyngeal non-keratonic carcinoma (cT4N1M0 IVB) in our hospital in September. The first cycle of chemotherapy \"Docetaxel + Cisplatin + 5-fluorouracil\" was performed on October 1 (Figure 1, green box). He was discharged from hospital on October 6 after blood routine examination. \nChest CT (October 9) in the emergency showed that Chronic bronchitis and emphysema. New lesions were found in the lower lobe of the right lung. Laboratory tests showed a WBC count 0.62*10^9/L, PLT count 32*10^9/L, PCT 100ng/mL, Alb 26g/L (Figure 1, blue box), as shown in Tables 1 and 2. After 5 days of empirical anti-infective treatment with meropenem, the patient's body temperature and PCT decreased, and WBC count returned to normal. \nThe patient was treated with meropenem for anti-infection in the early stage, but the intestinal flora was seriously disturbed, repeated diarrhea, and he had no fever. Clinical pharmacists suggested that the patient continued to be treated with ceftazidime for 8 days. On Oct 19, the patient's diarrhea improved. Two days later, the cough of the patient worsened significantly during the night and white phlegm was coughed up occasionally. Physical examination showed that breathing sounds were coarse in both lungs, and wet rales could be heard in the lower right lung. Reexamination showed that the blood routine of the patient was normal and the sputum culture was negative. Chest CT examination was performed on October 22, which showed that the lower lobe of the right lung was infected with multiple new cavities, there were a few new lesions in the posterior and middle lobe of the upper lobe of the right lung (Figure 2A), and the possibility of lung abscess formation was warned. In a prospective study of 46 lung abscesses, 35 (76.09%) were found to be gram-negative and 2 (4.35%) were found to be gram-positive. Accordingly, the patient was switched to anti-infection therapy with latamoxef for 5 days. The patient's symptoms did not improve significantly, and further tests were planned. On October 24, fiberoptic bronchoscopy showed obvious hyperemia of bilateral bronchial mucosa, more white phlegm and bronchial inflammation in the lumen. On October 27, next-generation sequencing technology (NGS) results of fiberoptic lavage fluid of the patient showed Mycobacterium abscess (Figure 1, red box). Considering that the patient had NTM-PD, clinical pharmacists recommended that antibacterial agents were switched to cefoxitin (4g q8h intravenous drop infusion, days 20-54, Figure 1, yellow box). Re-examination of chest CT indicated that the lesions in the lower lobe of the right lung were more absorbed than before, indicating that the treatment was effective. As the patient's cough and sputum were further improved, the reexamination of chest CT on October 31 indicated that the infection in the lower lobe of the right lung was absorbed more than before (Figure 2B) and the right pleural effusion was less. \nAfter anti-infective treatment of cefoxitin, the patient's laboratory indicators showed that the PCT was 0.046 ng/mL and the WBC count was normal. It is suggested that the anti-infective treatment is effective. Subsequent chest CT indicated further improvement of the right inferior lobe (Figure 2C). Mycobacterium abscessus was not found in the second NGS, but DNA virus was found. Clinical pharmacists recommended sequential treatment with moxifloxacin after discharge (0.4g qd orally, days 55-85, Figure 1, yellow box). CT (Figure 2D) showed that significant reduction of the lesions in the lower lobe of the right lung and further reduction of a small amount of fluid in the original right thoracic cavity. Subsequent CT (Figure 2E and F) results indicated that the lesions were further reduced and the treatment of infection was successful.\nComputed tomography (CT) and magnetic resonance imaging (MRI) are useful imaging tools. Therefore, when the infection was controlled, head and neck MRI (plain scan + enhancement) of the patient were immediately performed, and no significant thickening of the nasopharyngeal mucosa was observed. The tumor area was reduced. The original lymph nodes in the neck have largely disappeared (Figure 3). After one cycle of chemotherapy, reexamination of the head and neck MRI showed that the local lesions were significantly receded, and the disease was evaluated as PR. \nSince systemic chemotherapy is not suitable with anti-infective therapy, local radiotherapy is used to control the lesions, and clinical pharmacists suggested the targeted therapy of nituzumab with the patient. The combination of nituzumab and concurrent chemoradiotherapy is an important treatment strategy for local advanced nasopharyngeal carcinoma. A patient with acute myelogenous leukemia combined with right calcaneal osteomyelitis also required prolonged interruption of leukemia therapy in the treatment of mycobacterium osteomyelitis. Diagnosis and treatment involving doctors and pharmacists and multidisciplinary cooperation are crucial in patient management.",
"gender": "Male"
}
] |
PMC11330855
|
[
{
"age": 0,
"case_id": "PMC11210070_01",
"case_text": "The BEED device was evaluated in an in vivo porcine tissue model with a 90 day follow-up period. All procedures used in this study were approved by the Mississippi State University Institutional Animal Care and Use Committee. Two healthy, 6-month-old, female, purpose-bred Yorkshire-Landrace crossed pigs were cared for in accordance with the Guide for the Care and Use in Laboratory Animals. Pigs were housed together preoperatively, individually for 2 weeks postoperatively to heal, and then together again for the remainder of the study. The room was maintained at a temperature range of 61 F to 81 F with a 12 h:12 h light-dark cycle. They were fed Ware Milling pig grower feed twice daily. The pigs were administered ceftiofur perioperatively (5 mg/kg IM q24 h x 3 days) starting 1 day prior to the surgery. For postoperative pain management, the pigs were administered carprofen (3 mg/kg SQ once) at the time of surgery, followed by carprofen (3 mg/kg PO q24h x 7 days) starting the day after surgery.\nFor the initial surgery, the pigs were premedicated with an intramuscular injection of telazol, ketamine, xylazine, and morphine. Once under deep sedation, each pig was intubated, and anesthesia was maintained on a mixture of isoflurane and oxygen. IV Ringer's lactate was administered, and depth of anesthesia, temperature, heart rate, respiratory rate, SpO2, ET CO2, and blood pressure were continuously monitored.\nPigs in dorsal recumbency were hair clipped and prepped with chlorhexidine and alcohol. Each was tattooed with eight 10 x 10 cm grids (6 abdominal, 2 medial thigh) for a sterile operating room, and each was given 1 of 16 labels: A1 to A8 and B1 to B8. Local anesthesia of 1 mL of 1% lidocaine and epinephrine was injected in a medial grid corner, followed by a 5 mm, 45 beveled #15 blade stab incision, followed by subcutaneous tumescent fluid instillation (500 mg lidocaine, 1 mg epinephrine per 1 L lactated Ringer's solution) under each grid in a fanning/spoke-wheel fashion through a 3 mm spatulated cannula or a spinal needle at 100 mL per 100 cm2. A small, <2 x 2 cm subcutaneous pocket was created using blunt Metzenbaum scissors.\nTen minutes were allowed for the epinephrine to take effect. The tip of the dissecting device was then introduced into the 2 x 2 cm pocket. Subcutaneous BEED dissections were carried out beneath each grid. A skin hook was firmly placed in the lower dermis of the entrance incision and pulled toward the surgeon, because the BEED dissector was pushed forward and pulled rearward to create and link dissection \"spoke\" paths. This was accompanied by continued proximal vectored tension through skin hook (and other traction vectors, as previously discussed) for the remainder of the spoke-wheel dissection, creating a plane in the SAT, as previously described. Following spoke-wheel dissection pattern completion, an attachment checking \"clean-sweep\" passage is performed with slight force being applied primarily in the retrograde vector with a component favoring the outer bead tip adjacent to the proximal lysing segment. Remaining tumescent fluids were milked gently through a 2 cm diameter rolling pin and incisions sutured using single buried 3-0 poliglecaprone. Ventral photographs were taken immediately preoperatively and postoperatively (immediately/7/30/60/90 days) while sedated with IM ketamine and xylazine. A hand-held FLIR ONE Edge Pro IR camera monitored skin surface temperature during device passage. The FLIR field of view at a practical distance from the surgical field included an additional area extending 20 cm out from the perimeter of the grids.\nAt 90 days postoperative, pigs were heavily sedated with IM telazol, xylazine, and ketamine. After obtaining 3 month ventral photographs, each grid was evaluated by ultrasound followed by IV pentobarbital overdose euthanasia (1 mL/10 lb). A 2.5 cm x 2.5 cm square full-thickness deep section of the tissue was harvested from grid centers for histopathological evaluation along with 2 additional, untreated-zone control specimens.\nTo evaluate tissue response to the BEED dissection after 90 days, the tissues deep in each grid (labeled A1-A8 and B1-B8) were examined using a 3 to 10 MHz microconvex transducer and a 12 to 20 MHz linear array transducer with a GE Logiq S8 Ultrasound machine (GE, Boston, MA). In addition, 3 control locations (1 lateral to the cranial treatment regions, 1 between treatment regions, and 1 on midline) were interrogated. The regions were also interrogated with color Doppler and power Doppler to evaluate for changes in blood flow.\nEight skin samples (\"grids\") were evaluated from each pig (denoted A1-A8 and B1-B8). Three control samples were evaluated per pig. For each skin sample, the tissue was sectioned in half to obtain the midline section and transected in quarters to obtain the lateral sections. All sections were evaluated with H&E. Midline sections were also assessed with trichrome to evaluate fibrosis and Van Gieson to evaluate elastin.",
"gender": "Female"
}
] |
PMC11210070
|
[
{
"age": 40,
"case_id": "PMC10857800_01",
"case_text": "The patient was a G7P6 40-year-old female at 20 weeks gestation with a history of polysubstance use disorder and hepatitis C who presented to the emergency department with severe shortness of breath and hypoxia. She described experiencing progressive shortness of breath over the past few days after a probable heroin overdose. Upon physical examination, she was noted to be 77 kg in weight and 167 cm in height and appeared to be in severe distress. Her cardiac examination was unremarkable; however, there were severe bilateral crackles present in all lung fields. Prior to the application of supplemental oxygen, her oxygen saturation was noted to range between 70-75%. She was quickly placed on a non-rebreather mask connected to 100% fraction of inspired oxygen (FiO2) at a flow rate of 15 L per minute with a marginal improvement of her oxygen saturation to a SpO2 of 80-85%. An arterial blood gas was collected and was notable for a hemoglobin of 10.1 g/dL, a pH of 7.4, pCO2 of 45 mmol/L, and a PaO2 of 56 mm of 100% FiO2. A portal chest X-ray (Figure 1) was obtained which revealed bilateral interstitial and airspace opacities that were consistent with noncardiac pulmonary edema versus diffuse pneumonia.\nDuring her emergency department visit, she became progressively tachypneic and was intubated for impending respiratory failure when her respiratory rate reached 30 breaths per minute. After intubation, a bronchial alveolar lavage (BAL) was ordered, and the patient was started on the broad-spectrum antibiotics ceftriaxone and vancomycin. She was then transferred to the intensive care unit (ICU) for further observation and management.\nOver the next five days, a significant workup by the pulmonology, infectious disease, rheumatology, and obstetric services was completed and was notable only for protein S deficiency, MTHFR mutation, and a positive initial BAL for pulmonary macrophages and occasional neutrophils with no bacterial growth after five days. This led to a working diagnosis of aspiration pneumonitis.\nAfter approximately five days of antibiotic and supportive treatment, she was extubated and transferred to an intermediate care unit in stable condition. Two days later, she was transferred to the medical ward, her antibiotics were stopped, and she was discharged to a nearby subacute rehabilitation facility.\nWithin hours of presenting at the rehabilitation facility, however, she acutely decompensated and was transferred back to the ICU, where she was emergently intubated. Despite escalating ventilator management, the patient became increasingly hypercapnic and acidotic with a pH of 6.9 and a PaCO2 of > 105 mmHg. A transthoracic echocardiogram (TTE) was performed, which indicated normal biventricular function without hemodynamically significant valvulopathies. Subsequently, the decision was made to proceed with venovenous (VV) extracorporeal membrane oxygenation (ECMO) cannulation via a femoral-femoral approach.\nAfter an uneventful cannulation, the patient stabilized and demonstrated clinical and laboratorical improvement for approximately three days. On Day 4 of VV ECMO, the patient became increasingly unstable, manifesting hypotension, anemia, and downtrending fibrinogen. Bedside imaging indicated a finding of placental lakes, which raised concerns of placental abruption. After extensive discussion among the care teams and the patient's healthcare proxy, an urgent cesarean section was planned in order to provide the patient with the best chance at survival.\nAn anesthesia team consisting of two anesthesiologists - one obstetric and one cardiothoracic - and a fourth-year anesthesia resident physician was selected to care for the patient intraoperatively. After bringing the patient to the operating room and connecting her to the American Society of Anesthesiologists' standard monitors and an anesthesia machine, two large-bore IVs and a radial arterial line were placed. After the catheters were confirmed to be functioning correctly, the patient's propofol infusion was up-titrated from her existing ICU sedation dose of 50 mcg/kg/min to 100 mcg/kg/min and an additional bolus of 50 mg was administered. Then, the surgeons prepped the patient's abdomen in the usual fashion and quickly delivered the fetus via a low transverse incision.\nThe fetus was transferred to a waiting team of neonatologists and was determined to be nonviable. The placenta was removed from the uterus and hemostasis was achieved with the aid of 26 units of IV oxytocin (two boluses of three units spaced three minutes apart, with 20 units infused over one hour) and 250 mcg IM carboprost. One liter of blood loss was noted; however, the patient remained hemodynamically stable throughout the operation and was returned to the ICU postoperatively for close monitoring.\nThe remainder of her course included recanalization of ECMO from bilateral femoral cannulation to a dual-lumen right internal jugular catheter in order to facilitate physical conditioning, a tracheostomy due to failure to wean from the ventilator, eventual decannulation of the ECMO circuit, and discharge to the same subacute rehabilitation.",
"gender": "Female"
}
] |
PMC10857800
|
[
{
"age": 69,
"case_id": "PMC10883443_01",
"case_text": "A 69-year-old male complained of low-grade fever, cough with expectoration and breathlessness on exertion for the last 10 days. He denied any complaints of anorexia, weight loss and haemoptysis. The patient had a history of mild COVID-19 one month back, from which he recovered within 5 days of symptomatic treatment without requiring oxygen and corticosteroids during his hospital stay. He had a known case of type-II diabetes mellitus for the last 20 years, on oral hypoglycaemic agents, which he was not taking regularly. He has been chewing tobacco for 35 years and is an occasional smoker. On examination, the patient was afebrile with a pulse rate of 100/minute, respiratory rate of 20/minute, oxygen saturation of 95% on room air and right arm supine blood pressure of 128/76 mm Hg. There was no pallor, cyanosis, clubbing, oedema feet and palpable peripheral lymph nodes. Chest examination revealed coarse crepitation in the right infrascapular region on auscultation. The rest of the systemic evaluation was unremarkable.\nBlood investigations revealed uncontrolled blood sugar (range 220-328 mg/dl) with glycosylated haemoglobin (HbA1c) of 7.2% (normal range 4-5.6). Other routine haematological, biochemical and metabolic investigations were regular. Chest radiograph showed nodular opacities in the right lower zone. Sputum smear examination was negative for acid-fast-bacilli (AFB) but positive for gram-positive cocci, and culture showed growth of Staphylococcus saprophyticus. He was subsequently managed with an appropriate antibiotic (cefoperazone-sulbactam) per the sensitivity report for 7 days. Because of persistent symptoms, specifically severe cough, which was not improving with any treatment during the hospital stay, he was further investigated with contrast-enhanced computed tomography of the chest, which showed contrast-enhanced wall thickening of the distal trachea and bilateral proximal bronchi with internal mucosal irregularity and multiple enhancing lymph nodes in the paratracheal and subcarinal region (size 27 x 14 mm). Fibreoptic flexible bronchoscopy was immediately performed, which showed significant narrowing of the distal trachea with an endotracheal mass with nodularity and irregularity of overlying mucosa along with multiple nodular lesions in the proximal part of both the main bronchi [Figure 1]. After the consent of relatives immediately planned for a biopsy but could take only one biopsy as the mass was fragile and bled from the biopsy site, which showed mild dysplasia and was negative for malignancy/granuloma on histopathology, which was not satisfactory. Given his old age, history of smoking and endotracheal mass, the possibility of malignancy was also considered. Even positron emission tomography/computed tomography revealed hypermetabolic wall thickening of the lower tracheal and main bronchi with metabolically active mediastinal lymph nodes (SUV-4). Suddenly a relative of the patient came with a high-resolution computed tomography report of the patient while the patient was admitted for COVID-19, which did not show any irregularity in the tracheal mucosa. So now we were dealing with some acute or subacute lesions. After a proper discussion with the patient and relative, a repeat bronchoscopy-guided biopsy was performed, and able to take multiple biopsies from multiple sites. The histopathology report showed fragments of pauci-septate, right-angle branching, irregular, broad, ribbon-like folding GMS-positive, mycelial filament consistent with mucormycosis [Figure 3].\nThe patient was treated with liposomal amphotericin-B (AmB) 300 mg/day (5 mg/kg body weight, weight: 61 kg) for 21 days. Owing to unusual site and uncontrolled diabetes, another antifungal, posaconazole 300 mg/day, was added with AmB and strict glycaemic control by insulin. He was monitored regularly for electrolyte and renal profiles. The patient improved symptomatically after 10 days after the beginning of treatment. Patients need not require any surgical intervention. Bronchoscopy after completion of therapy did not show any irregularity in the tracheal mucosa [Figure 2]. Long-term follow-up after 15 months, the patient was asymptomatic and showed no abnormality on bronchoscopy.",
"gender": "Male"
}
] |
PMC10883443
|
[
{
"age": 61,
"case_id": "PMC10676630_01",
"case_text": "Here, we report a case of a 61-year-old woman referred to our clinic to evaluate a solitary and pedunculated mass in the upper external quadrant of the right breast. The patient was first diagnosed in another hospital with a multicentric breast tumor in August 2022, showing a 0.6 cm tumor at the right lower out quadrant of the breast (Figure 1A) and a large mass of 4.5 x 3.0 x 3.5 cm in her right axilla (Figure 1B and C). Her first core needle biopsy showed TNBC. The tumor-node-metastasis (TNM) stage was cT1bN2aM0 at the time of the first diagnosis. Therefore, the patient received 2 courses of neoadjuvant chemotherapy with lipo-doxorubicin-cyclophosphamide (adriamycin-cyclophosphamide; AC). However, no apparent therapeutic response was seen on the right axilla tumor. The patient continuously received another 2 courses of AC and 3 courses of docetaxel-carboplatin (taxotere-cyclophosphamide; TC) plus pembrolizumab from October 2022 to January 2023. While the right lower outer quadrant tumor was responsive and showed complete disappearance, the axillary tumor was still progressing, with a TNM stage of ycT3N2M0 at the end of the treatment.\nIn February 2023, the patient was transferred to our clinic. On physical examination, a pedunculated mass occupied her right axilla, which was tender and fixed to the chest wall (Figure 1D). There was also a satellite nodule measuring 3.0 cm in size, which invaded the skin with ulceration and bleeding. The axillary tumor measured 7.0 x 8.0 x 7.5 cm on a computed tomography (CT) scan, whereas the small tumor initially located at the right lower outer quadrant of the breast was not seen. The patient denies any relevant family history of cancer.\nMicroscopical examination of the axillary tumor re-confirmed a metaplastic-type TNBC with heterologous mesenchymal (chondroid) differentiation. The tumor was assigned an American Joint Committee on Cancer (AJCC) histopathologic grade of 3 (scores 8-9) and a Nottingham histopathologic score of 8. A positron emission tomography (PET)/CT scan suggested no definite abnormal 18F-fluoro-2-deoxy-d-glucose (FDG)-6P accumulation in other lymph nodes or areas of the body.\nThe patient was given a single regimen of carboplatin (area under the curve [AUC] = 4; 500 mg), paclitaxel (80 mg/m2), and pembrolizumab (100 mg) 1 day after the diagnosis of metaplastic breast carcinoma, but the tumor was still gradually enlarged, as a CT scan performed 1 week after the treatment showed that the tumor had grown to 9.4 cm (Figure 1E and F). Given the poor effect of tumor treatment, a right total mastectomy and axillary lymph node dissection (ALND) were performed. However, because the tumor had already adhered to the patient's brachial plexus and axillary vessels, part of the tumor tissue remained on the nerves, as the patient refused forequarter amputation (Figure 2A). A breast with a nipple was resected along with 5 axillary lymph nodes (Figure 2B). After sectioning the specimen, a tumor with a firm consistency and irregular surface, measuring 10.0 x 10.0 x 7.5 cm, was observed. The 5 axillary lymph nodes were involved by the tumor, as observed macroscopically. Histopathological analysis suggested a pathological stage of ypT4bN2a, with lymphovascular and perineural invasion.\nAs some macroscopic tumor remnants were left on the nerves, radiotherapy was initially planned to be performed 3 weeks after surgery. However, 13 days after surgery, the patient showed severe swelling of the axillary area. Examination revealed a mass-like lesion of 13.0 cm in diameter on her right axilla and a skin nodule in her right upper arm near the axilla (Figure 3). Fine-needle biopsy confirmed the regrowing of metaplastic carcinoma. Computed tomography angiography showed extravasation at the tumor wound, and the tumor encased the axillary artery. Genetic analysis was done, showing an amino acid change (H1047R) of PIK3CA and heterozygous deletion of specific tumor suppressor genes including PTEN, FLCN, TP53, and CDKN2A. However, because of the rapid growth of the tumor, the patient was given a 3-day combination of MAID regimen: mesna (2000 mg/m2/d), doxorubicin (20 mg/m2/d), ifosfamide (2000 mg/m2/d), and dacarbazine (250 mg/m2/d), instead of PIK3CA or mTOR inhibitors to get faster control of the tumor progression. However, the results were disappointing, and adverse effects including hypokalemia, febrile neutropenia, and septic shock developed. Following resuscitation, the patient's condition turned stable. Eight days later, the patient was transferred to the hospice care unit as the patient wanted to discontinue the treatment.\nOn May 2023, the patient experienced severe right arm numbness and pain. Morphine and lidocaine failed to relieve the pain. A few days later, the patient lost consciousness and her blood pressure dropped; the patient did not survive due to the aggressive course of disease.",
"gender": "Female"
}
] |
PMC10676630
|
[
{
"age": 13,
"case_id": "PMC10687404_01",
"case_text": "A 13-year-old female presented with simple motor tics following a holiday where she sustained an anterior cruciate ligament injury (ACL tear). Within a few months, loud coprolalia, self-injurious behaviors, complex orchestrated motor/vocal tic sequences, and tic attacks emerged. History included generalized anxiety disorder (GAD) and alexithymia. Tic onset was preceded by a move to Australia from abroad, resulting in losing friends and a much-loved pet and difficulties adapting socially to a private girls' school. Tics showed a marked reduction after 12 sessions of I-CBiT over three months, with minimal motor tics during stressful periods (exam week). As tics improved with treatment, she presented with a marked drop in mood, increased anxiety, and suicidal ideation, for which Fluoxetine was commenced. Mood stabilized after a further six months. School functioning improved, and no suicide risk was present.",
"gender": "Female"
},
{
"age": 13,
"case_id": "PMC10687404_02",
"case_text": "A 13-year-old female presented with a sudden onset of explosive motor tics, for which she attended the local ED. Within days, tics progressed to complex vocalizations followed by self-injurious and dystonic tics, reducing school attendance and social functioning. She presented as a high achiever with perfectionist tendencies in both school and sports, playing at a state level. History included GAD, social anxiety, major depressive disorder (MDD), functional paralysis, and panic, with symptoms that included left-sided \"numbing\". Despite treatment with medications, including Risperidone, tics were present every few minutes, reducing school attendance to part-time. Tics improved after nine sessions of I-CBiT over three months, and Risperidone dose was reduced. She returned to school and sports and demonstrated increased independence (using public transport alone). Subsequently, she developed sustained migraines and dissociative episodes, resulting in withdrawal from daily life and bed rest. Organic causes were ruled out. At three month follow-up, there was no presence of tics or dissociative symptoms, with minimal headaches every few weeks. She returned full-time to school/sports and continued to demonstrate independence.",
"gender": "Female"
},
{
"age": 14,
"case_id": "PMC10687404_03",
"case_text": "A 14-year-old female presented with simple motor and vocal tics, progressing to self-injurious behaviors, hitting, throwing objects, and complex vocalizations. Tic attacks developed within a few months. Tics resulted in reduced school attendance and isolation from peers. She identified as queer and advocated for marginalized groups. She reported being bullied for her sexual orientation and never feeling accepted by her peers, describing herself as an \"outsider\". History included social anxiety, panic symptoms, and obsessive-compulsive behaviors (OCBs; hair pulling). She reported ongoing difficulties with initiating and maintaining friendships and was diagnosed with ASD (level 1) during the treatment period. After 10 sessions of I-CBiT over two months, her tics were minimal, with no tic attacks. She returned to school full-time and experienced a reduction in panic attacks from weekly to once every few months, usually during stressful events (social conflict).",
"gender": "Female"
},
{
"age": 16,
"case_id": "PMC10687404_04",
"case_text": "A 16-year-old female presented with simple motor tics, which progressed to copro-phenomena and self-injurious tics within a few months. Daily functional seizures, functional limb weakness, drop attacks, and paralysis episodes developed a few months later, leading to reduced school attendance and withdrawal from high-level sports. Suicidal ideation and self-harm behaviors were also present. History included GAD, social anxiety, MDD, and a history of trauma with panic and dissociative symptoms. She presented as a high achiever in school/sports. Tics were preceded by multiple international moves for parental employment and the death of a close friend. Her tics showed a marked reduction following 14 sessions of I-CBiT over six months. With 16 further sessions of I-CBiT, other presenting functional symptoms reduced, leading to completion of high school and a move abroad for university.",
"gender": "Female"
},
{
"age": 14,
"case_id": "PMC10687404_05",
"case_text": "A 14-year-old client who identified as non-binary (biological female) developed a distressing urge to throw a computer. Tic symptoms progressed over the following weeks, resulting in reduced school attendance. History included selective mutism (3-4 years old), GAD, self-harm behaviors, and panic symptoms with worries about social judgment. They presented as a high achiever with perfectionist symptoms. They were a successful online gamer with a large following, noting that tics were an important part of their online identity in that it made them feel accepted and helped manage social anxiety. Following 18 sessions of I-CBiT over eight months, tics reduced in frequency and could be easily suppressed for long periods. They returned to school full-time with no panic symptoms.",
"gender": "Unknown"
},
{
"age": 14,
"case_id": "PMC10687404_06",
"case_text": "A 14-year-old female initially developed a shiver accompanied by a right head turn, followed by multiple complex motor tics (throwing pens and stomping) and vocalizations. History included social anxiety, anxiety related to academic ability, a shy and introverted personality type, alexithymia, difficulties with attention and concentration, and low-level disruptive behavior in class. Tics positively affected self-confidence as she felt judgment would be about characteristics beyond her control rather than intrinsic to her personality or identity. She was an avid user of TikTok (engaged in tic-related material) and had a friend with tics. Her tics showed a marked reduction after 11 sessions of I-CBiT over five months. As her tics reduced, she became less engaged with treatment as tics no longer impacted her daily life.",
"gender": "Female"
},
{
"age": 13,
"case_id": "PMC10687404_07",
"case_text": "A 13-year-old female presented with head nodding and shoulder movements, which increased in frequency (every few seconds) within a few weeks. She presented as a high achiever, demonstrating performance anxiety and alexithymia. History included multiple panic attacks during an assessment/exam week or leading up to one. Tic onset was preceded by a period of significant parental conflict, and she felt a sense of responsibility to dissipate the conflict and care for her siblings. Tic episodes coincided with increased parental attention, resulting in decreased parental conflict. Tics were reduced after 14 sessions of I-CBiT over four months, and she was transitioned into the maintenance phase with diminished tic frequency. Panic attacks also reduced and were mostly limited to exam periods.",
"gender": "Female"
},
{
"age": 20,
"case_id": "PMC10687404_08",
"case_text": "A 20-year-old female presented with the onset of a forceful head tic (swinging head backward) during a social gathering. Several months later, complex motor/vocal tics and self-injurious behaviors developed. She noticed that some of her tics mimicked those on TikTok (vocalization of \"beans\"). Due to her tics, she could not cross the road, drive, work, cook, or dress herself. She stopped socializing and spent much time in her bedroom or her long-term girlfriend's home. She presented as a high achiever, demonstrating sporting success. History included social anxiety, GAD, MDD, ASD (level 2), and self-harm behaviors that required hospitalization. Her panic symptoms largely resolved with tic onset, reporting that tics would often interrupt a panic attack. Tics showed a marked reduction after 16 sessions of I-CBiT over seven months. Shortly after, she developed gastro symptoms (unable to eat and vomiting multiple times per day), resulting in several hospital admissions, and was diagnosed as \"eating disordered\". The symptoms were treated as functional and resolved with further I-CBiT sessions. She demonstrated progress in all areas of daily living, spontaneously commenced driving, reconnected with peers, and started online dating following the termination of her long-term relationship.",
"gender": "Female"
}
] |
PMC10687404
|
[
{
"age": 32,
"case_id": "PMC10694189_01",
"case_text": "A 32-year-old Caucasian pregnant woman with a history of generalized anxiety disorder, emotionally unstable personality disorder, obsessive-compulsive disorder, posttraumatic stress disorder as well as one previous suicide attempt several years ago, was admitted to the maternity ward in gestational week 24 due to severe hyperemesis gravidarum, suicidal ideation, and increased anxiety. She had no family history of preeclampsia and she had stopped smoking during pregnancy.\nThe patient had been mentally stable for several years on treatment with lamotrigine 150 mg/day and venlafaxine 225 mg/day. A gradual deterioration of her mental health began after the sudden death of her mother 6 months prior to the current event. Around the same time, the patient discovered that she was pregnant. Her primary care physician began tapering her lamotrigine and venlafaxine, after consulting a psychiatrist. Her medications at the time of admission to the maternity ward were lamotrigine 25 mg daily and venlafaxine 187.5 mg daily. She was transferred to the psychiatry ward 6 days after being admitted to the maternity ward. At admission to the psychiatric ward (the 25th week of pregnancy), the patient's weight was recorded at 85 kg. The patient's self-recorded weight pre-pregnancy was approximately 73 kg (BMI 25.9). At the time of admission, her vital signs included a blood pressure of 105/59 mm Hg, a heart rate of 88 beats/min, and an oxygen saturation of 97%. Laboratory tests were normal except for lower serum albumin measuring 28-27 g/L and positive urine protein ranging from 1 to 2 + which is equivalent to 0.3-1 g/L protein in the urine. Positive urine protein finding had been present as early as gestational week 10 when the patient sought medical attention for hyperemesis gravidarum. Of note, during her pregnancy, there were intermittent instances of negative urine protein results. Her hypoalbuminemia and proteinuria were not evaluated further during her hospitalization.\nDuring the patient's hospitalization, her psychotropic treatment was intensified with the gradual increase of lamotrigine to 150 mg/day over 2 weeks and increase of venlafaxine to 225 mg/day. Following dose increase, plasma levels of venlafaxine and its active metabolite were within the therapeutic range. In response to significant sleep disturbances in the beginning of hospitalization, a nightly regimen of 10 mg zolpidem and 25 mg quetiapine was initiated. She additionally received oxazepam 10 mg and promethazine 25 mg for anxiety as well as ondansetron 4 mg for nausea as needed (pro re nata: PRN). The restoration of her sleep quality prompted the discontinuation of quetiapine after a total of 10 days of use. Concurrently, the patient's clinical picture was dominated by severe anxiety with intermittent suicidal thoughts that led to the introduction of olanzapine, 2.5 mg twice a day (BID), with subsequent gradual increase to 7.5 mg/day and then 5 mg BID during the following 2 weeks. She was treated at the psychiatry ward for a duration of 25 days, during which she received olanzapine for 20 days. She was discharged with scheduled outpatient psychiatric follow-up, including planned monthly concentration measurements of lamotrigine with potential dose increase if required. For a summarized overview of the drug treatment regimen over the course of the disease, see Figure 1.\nA retrospective evaluation showed that the body weight increased 16.5 kg during the 3-week period following the introduction of olanzapine. Significantly, 14 kg of this weight gain occurred within the last 2 weeks of this period. Blood pressure measurements were sporadically recorded with readings in the range of 105/59-111/73 mm Hg before, and 150/92 mm Hg at discharge, 3 weeks after the introduction of olanzapine.\nThe patient was readmitted to the hospital 2 days after her discharge, at gestational week 28 + 6 with dyspnoea, extreme weight gain, and high blood pressure measuring 163/114 mm Hg. Her heart rate was recorded at 98 beats/min and oxygen saturation was at 95%. Additionally, peripheral oedema was observed in her lower legs and hands. Extensive laboratory testing, with only abnormal results reported revealed low hemoglobin level, ranging between 105 and 107 g/L, low serum albumin measuring 19-20 g/L, increased NT-proBNP:2,410 ng/L, and high urine albumin to creatinine ratio of 1,340 g/mol (reference <5 g/mol). Blood sugar, HbA1C, screening for viral infections, and thrombophilia were normal. Chest computer tomography revealed bilateral pleural effusion but showed no signs of pulmonary embolism. Echocardiography revealed signs of fluid overload, with all four chambers slightly dilated, but the heart function was within the normal range. The patient was prescribed labetalol, clonidine, nifedipine, and furosemide for hypertension and oedema as well as magnesium sulfate for seizure prophylaxis. An urgent cesarean section was performed 2 days later, at gestational week 29 + 1, due to preeclampsia. The newborn's birth weight was 1,200 g, and the Apgar scores at 1, 5, and 10 min were 8, 7, and 7, respectively. No growth restriction or developmental abnormalities were noted at birth. Postpartum microscopic pathological evaluation of the placenta was consistent with preeclampsia, where accelerated maturation and hypoxic changes as well as microinfarctions were present.\nThe symptoms of dyspnoea and peripheral oedema, as well as serum albumin and NT-proBNP started to improve promptly postpartum. Her blood pressure was controlled by daily doses of 600 mg labetalol, 5 mg enalapril, and 40 mg furosemide, and subsequent echocardiography revealed no pathological changes. The patient was mentally stable and was transferred to neonatal intensive care unit 5 days postpartum, for medical care of her newborn. Psychiatric medication remained unchanged at discharge, i.e., lamotrigine 150 mg/day, venlafaxine 225 mg/day, zolpidem 10 mg/day, olanzapine 10 mg/day, oxazepam 10 mg PRN, and promethazine 25 mg PRN.",
"gender": "Female"
}
] |
PMC10694189
|
[
{
"age": 24,
"case_id": "PMC10997960_01",
"case_text": "A 24-year-old male of Indian descent presented with a significant history of bilateral high myopia (-7.00 D) and previous barrage laser treatment for the right eye underwent uncomplicated bilateral ICL implantation for refractive correction at an external medical facility. On postoperative day (POD) 10, the patient presented with reduced vision, corneal edema, and elevated intraocular pressure (IOP) measuring 24 mm Hg in the left eye despite receiving maximum tolerated antiglaucoma medication (AGM) therapy, consisting of two carbonic anhydrase inhibitors [one topical dorzolamide 1% and one oral acetazolamide 250 mg/day once a day (OD)] and a topical alpha agonist brimonidine 0.2% twice daily ((BD). A provisional diagnosis of ACG prompted the performance of surgical peripheral iridectomy (PI) to address possible pupillary block. Seeking a second opinion, the patient was recommended ICL explantation in the left eye at another medical facility. Subsequently, the patient sought evaluation and an opinion at our institution.\nUpon examination, visual acuity was found to be 20/20 in the right eye and 20/40 in the left eye. A slit-lamp examination revealed normal eyelids and conjunctiva in both eyes, clear corneas, and appropriately sized anterior chambers (ACs). The right eye exhibited a normally patterned iris, a reactive 3 mm pupil, and an intact ICL with a central hole. In contrast, the left eye displayed a regular iris pattern with a surgical PI at 11 o'clock, along with a dilated 7 mm pupil and pigmentation over the ICL with a central hole (Fig. 1). Goldmann applanation tonometry registered IOP at 11 mm Hg for the right eye and 25 mm Hg for the left eye. A comprehensive evaluation, including fundus photography, optical coherence tomography (OCT), perimetry, and gonioscopy, was conducted. The ICLs' central holes eliminated the possibility of pupillary blockage as a contributing factor to the patient's condition, thus dispelling concerns about pupillary block glaucoma. In the anterior segment OCT (AS-OCT) analysis, it was observed that the ICL exhibited appropriate vaulting across all 12-hour clock positions (Fig. 2). The Anterion image also confirmed the adequacy of vaulting (Fig. 3). All biometry readings were unremarkable for both eyes (Fig. 4). Gonioscopy, a technique allowing for direct visualization of the AC angle, played a pivotal role in elucidating the patient's condition. Contrary to the initial diagnosis, gonioscopy revealed a wide and open drainage angle, which is characteristic of OAG. The absence of peripheral anterior synechiae and the clear visualization of the trabecular meshwork dispelled the notion of angle closure pathology.\nNotably, pigmentary depositions in the trabecular meshwork of the left eye were identified during gonioscopy, leading to the reclassification of the condition as secondary pigment dispersion syndrome (PDS)-related OAG (Fig. 5). This underscores the crucial role of comprehensive examination techniques in arriving at an accurate diagnosis. PDS occurs when pigment granules from the iris disperse into the AC, potentially obstructing the trabecular meshwork and causing elevated IOP. In this case, the densely pigmented trabecular meshwork in the left eye resulted from PDS, contributing to the elevated IOP and glaucomatous changes. The identification of these pigmentary depositions during gonioscopy was pivotal in establishing the connection between PDS and the patient's condition, further emphasizing the significance of a comprehensive approach to diagnosis and management. Along with the pigment dispersion, the patient had developed Urrets-Zavalia syndrome, because of which the patient has a mid-dilated pupil. The patient's management strategy was adjusted based on the redefined diagnosis. Given the patient's bilateral high myopia, the consideration of removing one of the ICLs introduces the potential for anisometropia, which could lead to visual discomfort. In addition, the removal of the ICL alone may not adequately address the underlying issue of a densely pigmented trabecular meshwork, potentially necessitating a trabeculectomy later on. Given this clinical scenario, a decision was made to prioritize trabeculectomy as a preliminary step to mitigate the need for subsequent procedures. Furthermore, it is crucial to recognize and address the patient's significant cosmetic apprehensions related to the unilateral removal of the ICL. The patient underwent ICL implantation in both eyes, and a decision was made to eliminate the need to wear spectacles or contact lenses, which had been a significant motivation for pursuing the procedure in the first place. Consequently, the prospect of removing the ICL from one eye alone raises the concern that the patient will need to rely on corrective eyewear or contact lenses, effectively undoing the initial purpose of having both eyes treated. This cosmetic aspect further complicates the management of the case, as we must consider not only the clinical necessity but also the patient's desire for optimal visual outcomes and convenience. Therefore, to preserve the integrity of the ICL and prevent potential visual field deficits, the chosen course of action entails performing a trabeculectomy procedure with the incorporation of ologen, a biodegradable collagen matrix implant. This comprehensive approach aligns with our commitment to providing the patient with the most suitable and professional care.\nFollowing the trabeculectomy procedure, the patient consistently demonstrated a notable normalization of IOP. Precise assessments of IOP on specific POD yielded promising results; on POD 7, the IOP measured at 18 mm Hg, steadily declining and eventually stabilizing at a favorable 14 mm Hg on POD 120, all without the need for AGM administration. Over a meticulous 5-year monitoring duration, IOP levels consistently maintained within the optimal range. Simultaneously, visual acuity remained unimpaired at 20/20 for both eyes, while the surgically treated eye demonstrated the establishment of a well-functioning bleb, conclusively affirming the sustained effectiveness of the surgical intervention (Fig. 6). Moreover, it is worth highlighting the patient's satisfaction with the treatment outcome. Nevertheless, it is important to acknowledge that Urrets-Zavalia syndrome has not fully regressed to its preoperative state in the patient's left eye. Comprehensive examinations, which included slit-lamp, fundus examination, OCT, and visual field analysis, consistently produced unremarkable findings (Figs 7 and 8). Specifically, OCT assessments indicated that both retinal thickness and ganglion cell layer (GCL) thickness remained within normal limits (Fig. 9). Furthermore, the visual field analysis demonstrated normal results for both eyes, implying the absence of significant abnormalities (Fig. 9). These findings firmly validate the successful outcome of trabeculectomy augmented with the ologen implant, emphasizing the pivotal role of gonioscopy-guided diagnosis in our approach.",
"gender": "Male"
}
] |
PMC10997960
|
[
{
"age": 70,
"case_id": "PMC10624162_01",
"case_text": "A 70-year-old male patient presented to our clinic with bilateral knee pain and an inability to walk. The patient reported that his chief complaint had surfaced three weeks before the clinic appointment, after a seemingly trivial fall from a standing height. During the fall, the patient landed on his back with his knee flexed, rendering him unable to stand. At the time of injury, the patient promptly sought medical attention at a primary care facility, where he received analgesics and was referred to our orthopedic clinic as a case of knee osteoarthritis. The patient's medical history was unremarkable, with no previous history of medication intake or prodromal knee pain before the injury. Despite his advanced age, the patient was a physically active individual who routinely engaged in physical exercise. Upon conducting a clinical examination, we identified a palpable gap in the suprapatellar region and bilateral loss of knee extension, as depicted in Figure 1.\nAn X-ray of the patient's knee was obtained, which shows bilateral patella infera, as depicted in Figure 2. However, a magnetic resonance imaging (MRI) study revealed bilateral quadriceps tendon rupture, as shown in Figure 3.\nThe results of the laboratory analysis indicated that the individual's kidney profile, lipid profile, Hemoglobin A1c(6.1), serum uric acid, parathyroid hormone, vitamin D, serum calcium, and serum phosphorus were found to be within the normal range. Additionally, the rheumatology workup did not show any abnormalities. The individual's body mass index (BMI) was recorded as 32, which falls under the category of obesity class 1 as per the standard BMI classification.\nDual Energy X-ray Absorptiometry (DEXA) scan for osteoporosis was normal with a total Z-score at the lumbar area 1.6.\nFollowing a thorough evaluation of the patient's condition, a bilateral primary tendon repair procedure was carried out. This involved the careful debridement of the distal stump of the quadriceps tendon, which exhibited signs of fragility and degeneration, and measured approximately 1 cm in length from the superior pole of the patella. Subsequently, the proximal stump of the tendon was reattached to the superior pole of the patella using two anchor sutures, each 4.75 mm the size, as depicted in the accompanying Figure 4.\nFollowing the surgery, the patient was put on a comprehensive rehabilitation program, which included immobilization in a hinge knee brace locked in extension for 1 month, along with non-weight-bearing exercises. The patient's rehabilitation program progressed to involve a gradual increase in passive flexion for the second month until he reached 90 of flexion.\nIn the third month, he began a gradual increase in active range of motion exercises. In the final month leading up to the final follow-up, he commenced quadriceps muscle strengthening exercises. At the four-month follow-up, the patient reported significant improvement in knee pain and function. He was able to stand and walk and return to his normal daily activities, albeit with minor limitations in certain activities requiring more knee strength and stability (Figure 5).",
"gender": "Male"
}
] |
PMC10624162
|
[
{
"age": 52,
"case_id": "PMC11045215_01",
"case_text": "The CARE Checklist has been completed by the authors for this case report and is attached as online supplementary material at https://doi.org/10.1159/000538508. A timeline of the patient's hospital course is illustrated in Figure 1. A 52-year-old male presented with a 2-week history of new-onset headache associated with bilateral blurry vision. He described the headache as a sudden bilateral pain in the temporal region. The headache was severe in intensity and was relieved slightly by over-the-counter analgesics. He denied any history of fever, trauma, syncope, seizure, diaphoresis, facial asymmetry, slurred speech, dizziness, or weakness. The patient was healthy and had no history of surgery or smoking. His parents were first cousins. The patient's brother had died from gastric cancer, and his parental cousin had a history of gastrointestinal cancer. The patient had four healthy children.\nThe patient was vitally stable, alert, and oriented at the initial assessment, with a Glasgow Coma Scale score of 15/15. The pupils were 3 mm and reactive bilaterally. Extraocular muscle movements were intact with no nystagmus. However, visual field examination revealed a slight decrease in the temporal field of the right eye, with intact remaining fields. The patient reported an increase in headache when the right eye was examined.\nAs part of a full neurological exam, cranial nerve examination showed that CN-5 sensation was decreased on the right side in all three divisions. The examination of the other cranial nerves was intact. The motor examination revealed power in lower limb extension as 4+, and power in other limbs was 5/5. Sensation was intact in all limbs, and reflexes were 2+.\nBrain magnetic resonance imaging (MRI) was performed, which revealed a heterogeneously enhancing mass in the left occipital lobe cortical base, measuring 2.8 x 2.5 x 2.2 cm in craniocaudal, anterior-posterior, and transverse diameters, respectively, with disproportionate vasogenic edema and mass effect (Fig. 2a, b). The patient underwent a left occipital craniotomy and tumor resection. The pathology report revealed a high-grade glioma (Fig. 3a, b). Histopathologic examination revealed markedly cellular glial neoplasm, with prominent nuclear pleomorphism, hyperchromatic nuclei, irregular nuclear membranes, and a variety of neoplastic cell patterns. The latter included gemistocytes and spindle, round, and small cells. Geographic necrotic foci were multiple. Immunohistochemistry (IHC) for glial fibrillary acidic protein (Fig. 3c) was strongly positive in the tumor cells. The Ki-67 proliferative index was increased in multiple tumor foci (Fig. 3d).\nThe mitoses count was variable, measuring in areas up to 5 figures/high-power field. Microvascular proliferation was identified. Ki-67 proliferative index was 25%. IHC for IDH1 R132H was positive, and P53 showed a wild-type reactivity pattern (scattered nuclear staining). IHC for IDH1 and FISH for 1p\\19q were negative. Hence, the tumor was classified as GBM, IDH wild-type. For 2021 classification, this can be classified as high-grade glioma, not otherwise specified. The patient received concurrent chemoradiotherapy with temozolomide and radiation therapy (60 Gy in 30 fractions using volumetric modulated arc therapy, Fig. 2c, d) to the surgical bed and surrounding brain tissue, as per standard radiation oncology protocols for high-grade gliomas, followed by adjuvant chemotherapy.\nThe patient was followed up regularly with MRI scans, which showed no evidence of recurrent disease. However, 8 months after completion of radiation therapy, the patient presented with left-sided scalp numbness and \"fluid-filled\" painful swelling at the previous surgical site. Physical examination findings showed a 5.5 x 5.5 cm immobile, non-tender occipital cystic mass with a soft consistency. A computerized tomography scan revealed a left occipital hypodensity at the surgical bed; 3 x 2.3 x 2.3 cm, a well-defined occipital/suboccipital with clear fluid collection of cerebrospinal fluid density seen just below the previous inferior-medial occipital craniotomy. A brain MRI revealed there was no associated diffusion restriction to suggest abscess formation, and although there were stable left occipital postsurgical changes without evidence of tumor recurrence, the development of extracranial suboccipital mass demonstrates heterogeneous high-signal intensity on T2 and peripheral enhancement and nodularity on post-contrast T1 (Fig. 2e, f). The patient underwent a re-excision of the lesion after the histopathology confirmed the neoplastic nature of the mass. Physical examination for neurofibromas, cafe-au-lait macules, and other features was negative.\nHistopathological examination revealed a high-grade myxofibrosarcoma. The tumor showed a multinodular growth pattern with scattered fibrous septa. The background was predominantly myxoid, with scattered elongated blood vessels. The tumor cells were arranged in short fascicles and exhibited large hyperchromatic nuclei, irregular nuclear membranes, high mitotic activity (including atypical mitotic figures), and foci of necrosis (Fig. 3e, f). The immunohistochemistry studies showed that the tumor cells were negative for pan-CK (AE1/AE3), SMA, DESMIN, CD34, S100, synaptophysin, glial fibrillary acidic protein (Fig. 3g), and Neu-N. Ki-67 proliferation index was markedly high (~50%) (Fig. 3h). This histomorphology and immunohistochemistry were consistent with high-grade myxofibrosarcoma. FDG-18 PET-CT was done, and no other masses were identified.\nDuring routine follow-up, the patient was found to have GBM progression and recurrence in February and March 2023. The patient presented with slurred speech, generalized weakness, visual disturbance, and dizziness. MRI findings revealed an interval progression of the recurrent high-grade left occipital tumor (Fig. 2g, h).\nThe patient underwent a second surgery, a left occipital craniotomy, and tumor resection. The case was presented to a tumor board that discussed the patient's case and recommended close observation without immediate radiotherapy or additional chemotherapy. However, it was agreed that chemotherapy would be further discussed.\nAfter the STS diagnosis, WES was sent for to assess for hereditary predisposition conditions, which was carried out on a blood sample and came back with a heterozygous missense variant in NF1. This was classified as a variant of uncertain significance per American College of Medical Genetics and Genomics guidelines.",
"gender": "Male"
}
] |
PMC11045215
|
[
{
"age": null,
"case_id": "PMC11097799_01",
"case_text": "A patient presented with a history of type 2 diabetes mellitus and gastroesophageal reflux disease status after laparoscopic Nissen fundoplication 5 months prior. The patient had postoperative refractory gastroparesis and eventually underwent pyloric stenting with a 20x10 mm AXIOS stent (Boston Scientific, Marlborough, MA) secured with an Endo Stitch device (Medtronic, Minneapolis MN). Three weeks later, the patient presented to the emergency department with a 48-hour history of bloating and gas pain progressing to multiple episodes of bilious vomiting. The patient denied having bowel movements for the past 2 days and was unsure about passing flatus.\nPhysical examination was notable for abdominal distension and left-sided abdominal pain without peritoneal signs. Labs showed mild leukocytosis. CT of the abdomen and pelvis demonstrated a small bowel obstruction with a transition point at the distal small bowel where the AXIOS stent was visualized (figure 1). There was small-volume free fluid in the abdomen but no free air and no evidence of bowel ischemia.\n Enterotomy, removal of foreign body, and primary repair \nEnterotomy, removal of foreign body, small bowel resection, and anastomosis\nDouble-balloon enteroscopy to remove the AXIOS stent\nNasogastric tube placement for decompression followed by bowel prep to allow AXIOS stent to pass distally",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC11097799_02",
"case_text": "A nasogastric tube was inserted for gastric decompression and the patient was given fluid resuscitation. Colonoscopic retrieval was considered but due to bowel dilation, presence of a transition point and lack of bowel preparation, a surgical approach was favored. The surgical team explained that the AXIOS stent would be unlikely to pass on its own in a reasonable time period, given its size and location above the ileocecal valve. Risks of ongoing bowel obstruction, and erosion, bleeding, or perforation due to the indwelling stent were also described. Endoscopic retrieval would have a low likelihood of success given its distal location. Given these factors, we discussed with the patient that surgical removal would be necessary. The case could be approached laparoscopically or open. Due to persistent small bowel dilation, we anticipated more limited working space for laparoscopy and elected to perform a mini-laparotomy incision through which we could run the bowel. A limited 5 cm infraumbilical midline laparotomy was made and a small Alexis (Applied Medical, Rancho Santa Margarita, CA) wound protector was used for retraction. The small bowel was eviscerated and run from proximal to distal. The foreign body was palpated in the ileum and found to be causing obstruction (figure 2). There was mild hyperemia but no sign of ischemia of the small bowel. A longitudinal enterotomy was made along the antimesenteric border of the distal ileum proximal to the stent, and the AXIOS stent was milked out (figure 3). Given the healthy tissue, we did not think that bowel resection was indicated. The enterotomy was closed transversely in two layers, first with a running 3-0 Monofilament Polydioxanone Suture (PDS) suture, followed by an interrupted 3-0 Vicryl Lembert suture. Fascia and skin were closed in standard fashion. The patient had return of bowel function on postoperative day 3, and nasogastric tube was removed on postoperative day 4. Discharge occurred on postoperative day 6 after tolerating solid food.\nAXIOS stents are self-expanding metal stents used to appose two lumens:typically pancreatic pseudocyst and stomach:to allow for enteric drainage. They have been used off-label to stent across the pylorus in cases of pyloric stenosis or stricture with significant relief of symptoms. In patients with gastroparesis, they can be used as a preoperative test to assess the potential efficacy of a gastric per oral endoscopic myotomy or a pyloroplasty; however, this can be complicated by distal migration of the stent down the alimentary tract. In one case, a 20x10 mm AXIOS migrated from the pylorus to the rectum and was passed uneventfully in the stool. Migration of the stents is a known complication. In a study of the FDA MAUDE database of complications related to AXIOS stent placement, migration of the stent was reported in 72 patients, comprising 12.4% of total complications. There has been little literature devoted to how to address distal migration of the stents into the gastrointestinal tract, with one case report describing selective non-operative management and another describing flexible sigmoidoscopy for retrieval. \nTo our knowledge, this is the first published report of an AXIOS stent migrating into the small bowel, leading to a small bowel obstruction, and it is the first published report of the surgical removal of a migrated AXIOS from the small bowel.\nNot applicable.",
"gender": "Unknown"
}
] |
PMC11097799
|
[
{
"age": 86,
"case_id": "PMC10837695_01",
"case_text": "An 86-year-old left-hand dominant Caucasian female with a history of breast cancer status post lumpectomy and hormonal therapy was referred to our clinic by an outside orthopedic surgeon. She described 5 months of elbow pain in her dominant limb, localized to a growing mass over her olecranon fossa. Initially, she was diagnosed with olecranon bursitis, and multiple aspiration attempts from the outside yielded only minute quantities of bloody aspirate. She then underwent an unscheduled partial resection. Final pathology showed high-grade myxofibrosarcoma. Before this, no advanced imagining was completed. Following our initial evaluation, she was sent for magnetic resonance imagining (MRI) with contrast of the elbow which revealed a 4.4 x 2.8 x 3.9 cm heterogenous soft tissue mass within the posterior soft tissues of the elbow with surrounding perilesional edema and extension into the triceps tendon which enhanced with contrast (Fig. 1).\nMetastatic workup was initiated and showed no evidence of metastatic disease on computed tomography (CT) scan chest and whole-body positron emission tomography/CT; Stage: pT2cNocMo, Grade III, Enneking Stage IIb. Outside operative records reported incomplete resection at the time of index surgery with margins positive for high-grade pleomorphic sarcoma predisposing the patient to contamination of the surgical field. Considering the patient's age, functional status, and anticipated morbidity, the patient elected to proceed with limb-sparing surgery, acknowledging that amputation would offer the most significant opportunity for tumor control. Final pathology was consistent with a high-grade pleomorphic sarcoma, and the medial and lateral margins were consistent with a low-grade spindle cell sarcoma that extended 1-5 mm beyond the main tumor mass. Postoperatively, the incision healed without complications, and the patient received radiation therapy in 33 fractions totaling 66.0 Gy.\nThe patient was placed in the lateral decubitus position. A wide ellipse shaped incision was made over the posterior elbow soft tissue mass, which fully incorporated the previously healed incision (Fig. 2). The identified mass was discovered in immediate proximity to the triceps tendon. Meticulous attention was taken in dissecting the mass, employing blunt dissection to cautiously mobilize the ulnar nerve without the need for transposition. En bloc excision of the mass, which measured 6.0 x 5.0 x 5.3 cm left a gap of approximately 5 cm gap in the triceps (Fig. 3 Left and center). Specimen was sent fresh to pathology intraoperatively exhibiting no remaining residual abnormal appearing tissue.\nFollowing resection, a 2.0-mm drill was used to make 2 bone tunnels in the proximal aspect of the olecranon in a standard fashion. The Achilles allograft was then laid flat over the triceps tendon defect at the level of the myotendinous junction to allow for overlap. A #2 FiberWire (Arthrex Inc., Naples, FL, USA) suture was then used to incorporate the remaining triceps tendon to the Achilles tendon allograft in a Krakow fashion (Fig. 3 Right and Fig. 4). Two separate stitches are used along the medial and lateral aspect, creating a total of 4 limbs with the limbs exiting on the deep side of the graft with 2.5 cm of graft remaining. A Hewson suture passer was then used to bring the 2 most medial limbs and lateral limbs through their respective bone tunnels. Next, a free needle was used to pass the limbs back through the graft from deep to superficial through the distal aspect of the graft while maintaining the elbow in a slightly extended position, ensuring optimal alignment, length, and tension, which was confirmed with gentle range of motion (ROM). The graft was subsequently secured with locking knots and redundant allograft was trimmed. A radial forearm fasciocutaneous flap was developed and the elbow was prepared for skin grafting at the direction of the plastic surgery team. Postoperatively, the patient was placed into a posterior mold splint at 30 degrees of flexion and discharged home.\nMultidisciplinary follow-up was provided and successful integration of the fasciocutaneous flap was achieved. At 5 weeks postop, the posterior mold splint was removed, and physical therapy was initiated. Gentle passive ROM was encouraged for 2 weeks followed by progressive strengthening and active ROM. Final pathology showed margins consistent with mainly low-grade spindle cell sarcoma that extended beyond the main tumor mass.\nOne month postoperatively, radiation therapy was initiated and treatment was completed over a 2-week period (66.0 Gy in 33 fractions). The patient continued to progress with physical therapy and was able to complete most activities of daily living with assistance at home. Three months postop, the patient reported full sensation in the radial and median distribution with subjective decrease in sensation in the ulnar nerve distribution. Passive ROM at elbow was from 0 to 130 degrees with active ROM from 0 to 110. Strength was recorded at 4/5 in the 0-40 degree arc with 3/5 strength for the remainder of the active arc based on the Medical Research Council Scale for Muscle Strength. Despite the patient's inability to fully regain her baseline strength (5/5) on Medical Research Council scale, she effectively utilized her upper extremity to carry out activities of daily living and managed to ambulate with the aid of a platform walker.\nInterval screening at 14 months from index procedure with whole body positron emission tomography/CT and MRI of left elbow, revealed nonspecific edema about the ulnar nerve with integration of the graft and a new focal lobulated 2.1-cm lesion in the intertrochanteric region of the left femur (Fig. 5). Subsequent MRI and bone biopsy of the femoral lesion confirmed malignant spindle cell lesion, compatible with high-grade spindle cell sarcoma and consistent with metastatic disease; Enneking Stage III. Given the patients' declining functional status and pain, the decision was made to pursue prophylactic stabilization with intramedullary nailing. Following discharge home, the patient decompensated medically, and the decision was made to pursue hospice care.",
"gender": "Female"
}
] |
PMC10837695
|
[
{
"age": 30,
"case_id": "PMC11074854_01",
"case_text": "A 30 year-old G1P0 woman with known chronic kidney failure (baseline creatinine 168 mumol/L) due to reflux nephropathy conceived spontaneously and had uneventful pregnancy until 20 weeks' gestation. Hypertension, progressive kidney impairment (peak creatinine 238 mumol/L), and critical fetal growth restriction (FGR) were thought to be secondary to severe early preeclampsia. She underwent a medical termination of pregnancy at 22+1 weeks and birthed a live male infant weighing 378 g (<1st centile) with subsequent neonatal death.\nTo improve her chances of a live birth and because she would ultimately require a kidney transplant, she had a preemptive living-related kidney transplant when her urea, creatinine, and estimated glomerular filtration rate were 23.8 mmol/L, 327 mumol/L, and 16 ml/min, respectively, and proteinuria, with a protein/creatinine ratio of 215 mg/mmol and albumin/creatinine ratio of 108 mg/mmol. This transplant occurred earlier than our usual local practice to facilitate pregnancy planning. Her immunosuppression regimen at the time of transplant was tacrolimus, mycophenolate, and prednisolone, with an induction regime consisting of methylprednisolone and basiliximab. Twenty-one months post-transplant, an acute deterioration of kidney function was found to be secondary to acute T-cell-mediated rejection. This was treated with pulsed steroids and follow-up kidney biopsy demonstrated resolution of the rejection. She underwent pre-pregnancy counselling with her nephrologist and preconception, she was changed from mycophenolate to azathioprine.\nThree months later, aged 32 years, she achieved a second spontaneous pregnancy. Early antenatal history was unremarkable. Her BMI was 22.8 kg/m2, baseline blood pressure was 120/70 mmHg, and her creatinine was 130 mumol/L. Her protein/creatinine ratio and albumin/creatinine ratio at the time were 9.3 mg/mmol and 1.1 mg/mmol, respectively. Medication included aspirin 100 mg daily, azathioprine 100 mg daily, prednisolone 5 mg daily, and tacrolimus total dose 12.5 mg daily. She was vaccinated against pneumococcal and meningococcal infections.\nAt 20+1 weeks gestation, creatinine was rising (200 mumol/L) with a protein/creatinine ratio of 32 mg/mmol and an albumin/creatinine ratio of 10 mg/mmol; obvious precipitants including infection and obstruction were excluded. Her blood pressure at this time was 140/90 mmHg. Tacrolimus trough level was 5.8 mug/L. Kidney transplant biopsy showed new acute TMA changes in one glomerulus and one arteriole (see Figures 1(a) and 1(b)). The sFlt-1/PIGF (soluble FMS like tyrosine kinase-1/placental growth factor) ratio was elevated at 90 suggestive of evolving early-onset preeclampsia. The tacrolimus dose was reduced and labetalol 100 mg bd was commenced. Creatinine improved to 159 mumol/L. A detailed fetal anomaly scan at 21+3 weeks showed a normally formed, well grown fetus.\nAt 22+3 weeks, she was admitted for presumed preeclampsia or HELLP (haemolysis, elevated liver enzymes, and low platelets). Blood pressure was 135/95 mmHg with sustained clonus. Investigations showed haemoglobin 86 g/L, platelets 131 x 109/L, creatinine 180 mumol/L, haptoglobin <0.1 g/L and LDH 370U/L (see Figure 2). Her protein/creatinine ratio and albumin creatinine ratios at this time had significantly risen to 378 mg/mmol and 203 mg/mmol, respectively. However, the picture was not entirely consistent as her blood pressure and liver function tests remained stable, sFlt-1/PlGF was down-trending at 70, and there was no evidence of fetal growth restriction. Alternative diagnoses were considered including TMA due to tacrolimus, atypical haemolytic uremic syndrome (aHUS), and atypical PET (preeclampsia).\nAt 22+5 weeks, progressive hypertension (160/110 mmHg), thrombocytopenia (platelets 93 x 109/L) and kidney impairment were noted (creatinine 206 mumol/L). Serum ADAMTS13 activity was normal. Antiphospholipid antibodies were negative. At this gestation, every effort was made to prolong the pregnancy. Following a multidisciplinary team meeting, treatment with eculizumab (recombinant humanized monoclonal antibody against complement protein C5) and high-dose prednisolone was commenced, and tacrolimus was temporarily ceased for the remainder of the pregnancy. The eculizumab induction regime was as per treatment recommendations for aHUS of 900 mg weekly for four doses, followed by maintenance of 1200 mg at week five, then 1200 mg fortnightly thereafter.\nNocturnal hypertension remained problematic despite anti-hypertensive therapy. Kidney impairment (peak urea 20.5 mmol/L, creatinine 235 mumol/L, urine protein/creatinine ratio 163 mg/mmol) was progressive. Intermittent haemodialysis was commenced at 24+1 weeks in an attempt to prolong gestation, given the maternal urea of 20.0 mmol/L, which at this level is recognised to be associated with poor fetal outcomes. Haemodialysis should be considered as a means of prolonging gestation when maternal urea concentration is 17-20 mmol/L (in addition to the clinical status of the mother) and the risk of this does not outweigh the risks of preterm delivery, as was in this case.\nAt 24+4 weeks, uncontrolled hypertension, progressive anaemia (60 g/L) and thrombocytopenia (36 x 109/L) prompted delivery by classical caesarean section, resulting in the livebirth of a female infant weighing 538 g (<3rd centile). At 4 weeks postpartum, infant had prematurity-related sequelae and the mother was medically stable. Creatinine remained elevated at 180 umol/L, but she was not dialysis-dependent. Molecular genetic testing (massive parallel sequencing) did not identify a reportable sequence variant for complement dysregulopathy (aHUS, C3 glomerulonephritis, 12 gene panel), and hence eculizumab was ceased 3 months postpartum.\nOne-year post-partum, creatinine was at baseline 159 mumol/L and kidney biopsy showed mild interstitial fibrosis with no evidence of rejection or TMA. Her offspring continued to require nocturnal home oxygen for chronic lung disease of prematurity and had low body weight but were otherwise making appropriate developmental gains.",
"gender": "Female"
}
] |
PMC11074854
|
[
{
"age": 33,
"case_id": "PMC11301807_01",
"case_text": "A 33-year-old woman presented with a history of intermittent vomiting for about 2 weeks. On further probing, she revealed a history of back pain for about 2 months and headaches for 1 month. There was no history of fever, recent travel, history of recent exposure to animals, fresh water swimming, etc. No history of tuberculosis or any other significant medical condition. The review of systems was unremarkable. On examination, the patient was awake, alert, and oriented with no apparent pallor, jaundice, edema, cyanosis, or clubbing. She was afebrile, with blood pressure, heart, and respiratory rates all within normal limits. The cranial nerve examination was normal. There were no gastrointestinal, pulmonary, or cardiovascular signs and symptoms. Magnetic resonance imaging (MRI) brain showed a large heterogenous enhancing lesion involving the right temporal and frontal lobes with surrounding vasogenic edema and midline shift, as shown in Figure 1.\nConsidering the impression of a neoplastic lesion, neuro-navigation-guided right temporal awake craniotomy was performed, and maximum safe resection of the lesion was done. She developed no new postoperative deficits, postoperative MRI showed gross total resection of the lesion [Figure 1], and she was shifted out of the special care unit. On postoperative day 2, she developed drowsiness and decreased responsiveness, and she was shifted back to special care and computed tomography head repeated, which showed an increase in cerebral edema. And she had developed hyponatremia, and was managed appropriately. She continued to worsen with vital instability and was electively intubated and shifted to the intensive care unit.\nMeanwhile, her histopathology revealed hippocampal formation, cortex, and white matter with overlying leptomeninges with marked lymphoplasmacytic and histiocytic inflammation. Several vessels showed mural necrosis and transmural inflammation with large cells with foamy cytoplasm with Periodic acid-Schiff+/diastase resistant granules large nuclei with prominent nucleoli suggestive of amebic organisms. Rare red blood cell engulfment was noted. No cyst forms were present, and only rare multinucleate giant cells were seen without a prominent granulomatous reaction. The final histopathology diagnosis was amebic meningoencephalitis; however, speciation was not possible based on morphology alone. There was no evidence of fungal infection or any neoplasm. The larger size of the putative organism favored Balamuthia or Acanthamoeba as the culprit, as shown in Figure 2.\nAfter this diagnosis, infectious disease service was urgently consulted and an antibiotic regimen was initiated that included intravenous azithromycin, meropenem, metronidazole, fluconazole, co-trimoxazole, rifampicin, miltefosine, and intrathecal amphotericin. A cerebrospinal fluid (CSF) tap was also conducted and sent for N. fowleri polymerase chain reaction (PCR), which was negative. Cytology was similarly negative. CSF studies showed low glucose (21 mg/dL), raised proteins (427 mg/dL), and WBC counts (8.7 x 107 with 80% lymphocytes). Culture studies showed no bacterial or fungal growth.\nHer MRI brain was repeated, which revealed multifocal areas of infarction and abnormal patchy hyperintensities with tonsillar herniation [Figure 3]. She continued to decline and had developed absent brainstem reflexes. Her EEG showed extreme low-voltage theta activity, suggestive of severe encephalopathy. MRI perfusion scan was done, which showed multifocal cerebral infarcts and features suggestive of encephalopathy and impaired cerebral perfusion.\nThe family was counseled in detail regarding the poor prognosis, and they decided to withdrawal from ventilatory support. Once extubated, she passed away shortly. The medical autopsy was not performed as per the family's wish.\nPCR, as well as Sanger sequencing was positive for B. mandrillaris.",
"gender": "Female"
}
] |
PMC11301807
|
[
{
"age": 17,
"case_id": "PMC10716271_01",
"case_text": "A 17-year-old girl, known case of NS (Homozygous four base pair deletion in exon 26 of the SPINK5 gene) presented with generalised erythema and scaling associated with marked pruritus. She had received treatment in the form of topical medications including emollients, corticosteroids, and a calcineurin inhibitor as well as systemic drugs including antihistamines, corticosteroids, acitretin (0.3 mg/kg/day for 2 months) and monthly doses of intravenous immunoglobulin (IVIG, 0.4 g/kg/day for 6 months) in the past (reported earlier). The patient had minimal response to acitretin therapy, but showed a marked reduction in the erythema and scaling with IVIG. However, 6 months later, the child developed thrombosis of left sigmoid, and transverse sinus for which she was started on enoxaparin and IVIG was discontinued. Her past history was significant for growth hormone deficiency and exogenous Cushing's syndrome. On examination, the patient had central obesity with prominent striae. Cutaneous examination revealed generalised erythema and scaling in the form of ichthyosis linearis circumflexa (ILC) (Figure 1). Scalp hair was short and sparse and revealed trichorrhexis nodosa on light microscopy. The patient was planned for secukinumab therapy and relevant investigations were performed. To assess the efficacy of anti-IL17 therapy, mRNA expression of Th17 related pathway genes were checked at three different time points (Figure 3). Assessment of CD4+-T helper cell population in whole blood received from patient before and after anti-IL17A therapy (Figure 4).\nThe blood counts and biochemistry were within normal limits; viral markers were non-reactive and chest x-ray did not show any abnormalities. Work-up for primary immunodeficiency disease (serum immunoglobulins, T-cell subtyping, nitroblue tetrazolium tests, complement levels) was also normal. Subsequently, the patient was administered subcutaneous 150 mg (weight of the patient being 53 kg)once a week for 5 doses followed by once a month. Significant improvement in disease severity in terms of pruritus as well as erythema and scaling could be observed after 8 doses (4 months) of secukinumab therapy (Figures 2A-2D). The ichthyosis severity score decreased considerably from 36 (pretreatment) to 18 after 4 months of treatment with a significant improvement in quality of life. Possible adverse event in the form of appearance of verruca vulgaris was observed after 4 doses of secukinumab therapy, however the same resolved without any active intervention within 2 months. No serious adverse events were reported. The relative mRNA levels of Th17 pathways were examined (Figure 3). The relative mRNA expression of the IL17A (6.45-fold; p = 0.001), IL21 (1.45-fold; p = 0.014), and IL22 (2.08-fold; p = 0.21) cytokines were elevated at first time points (before first dose of injection). Significant decrease was observed in mRNA level of IL17A gene at second (3.66-fold; p = 0.01) and third (0.0001-fold; p = 0.002) time points. The mRNA level of IL23 gene was low during first time point (0.11-fold, p = 0.018), unexpectedly increased during second time points (1.80-fold, p = 0.002) and reduced after third time point (0.0010 fold, p = 0.003). T-helper cell subtypes were assessed by flowcytometry techniques (Figure 4). There was gradual reduction in CD4+-IL17A positive cells (Th17 cells) from first time point to third time point (2.76%-0.76%). After second time point there was not much increase. CD4+-IL4 positive cell (Th2 cells) population was slightly increased in second (2.10%) and third time point (2.10%) as compared to first time point (1.96%). The reduction in CD4+-IFN-Gamma postive cells (Th1 cells) was sharp in second and third time point among all T-helper cell population. All together anti-IL17 therapy shows reduction in T-helper cells in the patients at three different time points.",
"gender": "Female"
}
] |
PMC10716271
|
[
{
"age": 74,
"case_id": "PMC10896458_01",
"case_text": "A 74-year-old man was admitted to our institution with stable angina and a history of significant three-vessel coronary artery disease, diabetes, and hypertension. He had 90% stenosis of the mid-left anterior descending (LAD), a drug-coated stent in the proximal right coronary artery, and a chronic total occlusion of the left circumflex coronary artery. Acute angulation and highly calcified lesions were seen in the LAD during coronary angiography (Figure 1).\nWe decided to rotablate the LAD. Using trans-radial access, a 7 French EBU (Medtronic, Minneapolis, MN, USA) guiding catheter, and a runthrough wire (Terumo, Tokyo, Japan), we wired with some difficulty. To replace the runthrough wire, a RotaFloppy wire (Boston Scientific, Marlborough, MA, USA) was pushed into the distal LAD using a FineCross (Terumo). Rotablation began with using a 1.25 mm burr with a speed of 180,000 rpm. On the fifth pass, the burr was able to pass through the stenosis but could not be withdrawn from the LAD's distal segment (Video 1).\nFirst, the rotablation system was gently pulled back by hand, but the attempt was proven to be ineffective. Moreover, extreme force induced perforation in the proximal LAD, but rapid echocardiography could not reveal pericardial effusion and hemodynamic stability (Video 2).\nNext, we placed a second 6 French EBU 3.5 guiding catheter through the femoral artery, a process known as the ping-pong technique, and an antegrade runthrough wire across the lesion, which keeps the guidewire in the true lumen. Following this, we disconnected the rotablation system's drive sheath, slipped a Heartrail ST01 5Fr (Terumo) catheter through the remaining system, and then anchored the catheter tip by simultaneously pushing and pulling the rotablator. This was ultimately successful in removing the rotablation system (Video 3).\nFollowing a few procedures and patient stabilization, percutaneous coronary intervention was continued. The predilatation of the LAD lesion was attempted at 12 atm using a 2.0 x 15 mm IKAZUCHI (Kaneka, Osaka, Japan), and the 2.75 x 24 mm Resolute Onyx stent (Medtronic, USA) was delivered with ease as a result of adequate balloon preparation. Without pericardial effusion on echocardiography and hemodynamic stability, angiography revealed the existence of Ellis grade 1 proximal LAD (Video 4).\nNevertheless, we decided to cover the perforated location with a 3.0 x 15 mm PK Papyrus (Biotronik AG, Bulach, Switzerland). Finally, coronary angiography revealed TIMI 3 antegrade flow in the LAD. After the procedure, the follow-up was unremarkable, and the patient was discharged one day later.",
"gender": "Male"
}
] |
PMC10896458
|
[
{
"age": 29,
"case_id": "PMC10750356_01",
"case_text": "A 29-year-old young woman was diagnosed with left lung adenocarcinoma and bone metastases (cT1N3M1, IV). She had received two cycles of chemotherapy consisting of pemetrexed and carboplatin from August 2016 to October 2016 at another hospital. Her Eastern Cooperative Oncology Group performance score (ECOG-PS) was 1. She came to our clinic for the following therapy. Before treatment, a biopsy of the enlarged cervical lymph nodes was performed, and next-generation sequencing (NGS) identified the rearrangement of ALK gene and the mutation of TP53 gene in the biopsy specimen. Thus, she started crizotinib 250 mg twice daily and had confirmed partial response (PR) as the best response. After 30 months, the patient presented with progression of metastases in the sternum, vertebrae, ribs, and ilium. Plasma NGS revealed the emergence of ALK D1203N. Then, the third-generation ALK inhibitor lorlatinib was administered at a dose of 100 mg daily from May 2019 and she also achieved PR. However, a new liver metastasis and enlarged abdominal and inguinal lymph nodes were detected at a regular CT scan in November 2020, while pulmonary lesions were well controlled. Ultrasound-guided biopsy of the left inguinal lymph node confirmed that the nature of the lesion was lung adenocarcinoma metastasis, and NGS of the biopsy specimen revealed two acquired mutations, ALK L1196M (mutation allelic frequency (MAF): 14.62%) and ALK D1203N (MAF: 13.22%). Thus, progressive disease (PD) was confirmed and the patient reached a PFS of 19 months to lorlatinib treatment.\nThe patient was then enrolled into a phase I/II trial of SAF-189s (ClinicalTrials.gov identifier: NCT04237805), and was treated with SAF-189s 120 mg daily in December 2020. After 6 weeks of treatment, the first restaging CT scan showed a stable disease (SD) based on RECIST 1.1. NGS of a liver biopsy specimen was also performed and revealed the persistence of the same acquired ALK mutations. However, in March 2021, a CT scan showed worsening liver metastases and new supraclavicular lymphadenopathy, suggesting PD. The response was maintained for 3 months. The toxicities of SAF-189s for the patient were tolerable, with only grade 3 hypercholesterolemia. Her ECOG-PS was 2 throughout the treatment period. After progression with SAF-189s therapy, NGS of a plasma and supraclavicular lymph node biopsy specimen revealed the continual persistence of ALK L1196M and ALK D1203N.\nThe therapy was then switched to ensartinib 225 mg daily. A brain MRI in April 2021 revealed metastases in the right frontal and parietal lobes, which indicated that the disease had progressed again, with a PFS of only 1 month. After whole-brain radiotherapy (30 Gy/10 F), chemotherapy (pemetrexed-carboplatin) combined with bevacizumab was administered, she achieved PR, and lasted for 7 months. After the cancer relapsed, she received another two therapies, ceritinib and anlotinib, but responded to neither. Later on, the patient become increasingly frail and died on 20 January 2022, with an overall survival of 66 months (Figures 1, 2).",
"gender": "Female"
}
] |
PMC10750356
|
[
{
"age": 20,
"case_id": "PMC10794333_01",
"case_text": "Regarding audiological evaluation, only one patient presented with abnormalities at the onset. He was a male, born at term in 1995, small for his gestational age (birth weight 2,230 g) with microcephaly (head circumference 31 cm, <=2DS). Seroconversion for T. gondii during pregnancy was retrospectively diagnosed, and the exact timing could not be determined because specific IgG and IgM were negative at 10 weeks of gestation, but they were not repeated and IgG were positive after delivery. The mother did not receive specific therapy. The newborn was diagnosed with CT because of positive IgM, IgG, IgA, and ISAGA IgM. Brain CT scan and ocular evaluation were normal. Therapy with Pyrimethamine and Sulfadiazine was started at 23 days of life and continued for one year without relevant sides effects. Neonatal hearing screening results were not available, but the first audiological evaluation was performed at 20 days of life with registration of TEOAE showing a bilateral refer result. At 2 months of age, click-evoked ABR and tympanometry showed a threshold of 60 dB nHL in the right ear and 70 dB nHL in the left ear. ABRs performed during follow-up confirmed bilateral SNHL. Pure tone audiometry showed symmetrical moderate high-frequency SNHL, and the speech recognition score was 100% for both ears using phonetically balanced words at 60 dB nHL bilaterally. The patient was a candidate for conventional amplification hearing aids, but his parents refused them, as he did himself when he grew up. With regard to the family history, the father and the paternal grandfather had SNHL. Given the family history of SNHL, he underwent genetic investigation for mutations in the connexin genes, which proved negative for GJB2 and GJB6. Comprehensive genetic testing using massively parallel sequencing or next-generation sequencing were not performed owing to the family's refusal. Brain magnetic resonance imaging (MRI) showed no intracranial lesions and abnormalities of the internal auditory meatus or cerebellum pontine angles. He exhibited mild language delay, particularly with regard to phonological skills, but his neurodevelopment was otherwise normal. He was evaluated until the age of 20 years old and did not develop chorioretinitis.\nThe median number of audiological assessments considered was 2.2 +- 1.543 (range: 2-10). The assessments showing middle ear disorders causing transient conductive hearing loss were excluded. None of the patients developed any grade of delayed hearing loss, either in the treated or the untreated groups. The median age at the last audiological evaluation was 2.3 +- 2.18 years (range: 1-8), although the median follow-up period was of 12.4 years (+-6.3), ranging from 1 to 27 years.\nAmong the 1,529 exposed patients, three (2%) presented with bilateral SNHL at the first audiological evaluation. Congenital CMV infection was excluded. One was lost at follow-up, another presented with SNHL in a more complex syndromic picture, and the third carried a novel mutation in the GJB2 gene.",
"gender": "Male"
}
] |
PMC10794333
|
[
{
"age": null,
"case_id": "PMC10803125_01",
"case_text": "Nine patients met the inclusion criteria for the case series (Table 1). Patients received an average of 8.9 +- 1.3 mg/kg of liposomal amphotericin B for a duration of 11.0 +- 10.8 days (range 1-34) predominantly for mould infections, including Mucorales, Fusarium species and aspergillosis. The average patient age was 49.4 +- 16.8 years, body weight was 88.0 +- 31.3 kg, and most patients (56%) were cared for in the intensive care unit. The average length of hospital stay was 46.3 +- 46.8 days. The median Charlson Comorbidity Index was 3 ([interquartile range 1-5], range 0-10). Most patients (89%) had previously received amphotericin B at an average dose of 4.66 +- 2.22 mg/kg in the course of the same infection as well as other concurrent antifungals (100%). Three patients (33%) were cured of their infection and 6 (67%) died during (n=4) or after (n=2) their stay. The main adverse effects were increased serum creatinine (n=3), changes in heart rhythm (n=3) and decreases in potassium levels (n=1).",
"gender": "Unknown"
}
] |
PMC10803125
|
[
{
"age": 63,
"case_id": "PMC11136696_01",
"case_text": "A 63-year-old male patient, who had undergone distal gastrectomy for gastric ulcer at the age of 19 years, was admitted to the hospital for essential thrombocytopenia. An abdominal ultrasound examination revealed a mass in the upper part of the gastric body, in contact with the spleen. Upper gastrointestinal endoscopy revealed no neoplastic lesions. Abdominal contrast-enhanced computed tomography (CT) revealed a mass measuring 67.7 x 52.5 mm in contact with the lateral area of the liver, the upper part of the gastric body, and the spleen. The mass exhibited predominantly low absorption internally, accompanied by some surrounding calcification. Additionally, the iodinated contrast agent demonstrated a poor contrast effect, suggesting an ischemic mass. Radiological findings indicated the possibility of gastrointestinal stromal tumor extending outside the gastric wall (Figure 1). Consequently, an ultrasound endoscopy (GF-UCT260/ EU-ME2; Olympus Optical Co.) was performed along with an EUS examination, which revealed a 50-mm mass in contact with the posterior wall of the upper gastric body, protruding outside the wall. Internally, the mass appeared heterogeneous and hypoechoic, with some anechoic areas; when observed underwater, it was partially continuous with the muscularis propria of the stomach. A post-acoustic shadow was observed from the mass border. Although there were areas that made visualizing the deep part of the mass difficult, we believe that this finding was due to the surrounding calcification noted on CT scans. Contrast imaging with perflubutane revealed only a faint contrast in the marginal parenchyma, with no obvious bubble inflow into the interior (Figure 2). Considering the submucosal mass with heterogeneous internal characteristics originating from the muscularis propria, a highly malignant gastrointestinal stromal tumor was considered a differential diagnosis. To confirm the diagnosis histologically, three transgastric punctures were made using a 19-gauge Franseen needle (SonoTip TopGain; Medico's Hirata Inc.). In the first and second attempts, we were unable to obtain a sufficient amount of specimen using the dry suction method; however, in the third attempt, we obtained a brittle grayish-white specimen using the slow-pull method. Histopathological findings revealed predominantly necrotic tissue, comprising a fibrous interstitium with hyalinization; cotton fibers were confirmed using polarized illumination, leading to a diagnosis of gossypiboma (Figure 3). Contrast-enhanced CT performed 1 month after FNA revealed a gas image inside the mass, which had reduced to 66.7 x 36.1 mm. This reduction could be attributed to a decrease in fluid content resulting from fine-needle aspiration and air intrusion into the mass. Splenectomy and tumor removal surgery were performed 3 months after FNA, and cotton fibers were found in the granulation tissue, similar to the FNA specimen (Figure 4).",
"gender": "Male"
}
] |
PMC11136696
|
[
{
"age": 36,
"case_id": "PMC10827631_01",
"case_text": "In January 2013, Shiyan Taihe Hospital accepted a 36-year-old female referral patient. The patient had abnormal uterine bleeding a month prior to presentation, which was characterized by increased menstrual volume, prolonged menstrual period and occasional dizziness. after the onset of the disease, the patient was treated in an external hospital and underwent hysteroscopy and uterine tissue aspiration. The examination suggested the likelihood of: (uterine) Burkitt lymphoma. Immunohistochemical results showed LCA (+++), CD38 (+++), CD138 (-), CKpan (-), EMA (-), Vimentin (+), CD10 (+), CD3 (+), CD5 (+), CD20 (+++), CD79alpha (+++), Ki-67 (positive rate 95%), MUM-1 (+), CyclinD1 (-), SOX-10 (-), CD23 (-), Pax-5 (+++), Bcl-2 (-), Bcl-6 (+), TdT (-), kappa (+), lambda (-), CD43 (+), SMA (-), h-Caldesmon (-), Desmin (-), ER (-), PR (-). In order to further evaluate the situation and determine the hidden metastasis, she was referred to the PET center for 18F-FDG PET/CT lymphoma staging.\n18F-FDG PET/CT results showed that there was abnormal imaging agent concentration in the uterine body and cervix of the patient (Figure 1), suggesting that the possibility of malignant tumor was high, which supported the diagnosis of immunohistochemistry. \nAt the same time, PET/CT scan also found abnormal uptake of imaging agents in multiple lymph nodes, including left cervical lymph nodes and abdominal lymph nodes. In addition, several extranodal parts of the body, including breast, sacral canal and bone, have metabolic abnormalities of different degrees. These findings support the diagnosis of Burkitt lymphoma and suggest that the case has widespread invasion. Based on the PET/CT scan results, the clinician diagnosed the patient as stage IIIa of Burkitt lymphoma and had lost the opportunity for surgery. The patient received CD20 monoclonal antibodies combined with chemotherapy.\nThe patient underwent a PET/CT scan after the completion of the fourth round of chemotherapy. The post-treatment PET/CT scan revealed a restored uterine morphology (decreased size and disappearance of hypermetabolic lesions). The size and metabolism of the lymph nodes in the left neck and abdominal cavity, and the small nodules scattered on both sides of the breast glands decreased compared with before. The bone density of many bones in the whole body was uneven and the uptake of imaging agents was lower than before. After the above consideration, the activity of tumor cells was significantly suppressed after comprehensive treatment (Figure 2).",
"gender": "Female"
}
] |
PMC10827631
|
[
{
"age": 59,
"case_id": "PMC11066275_01",
"case_text": "Patient, xxx, female, 59 years old, due to \"presented with a mass in the left breast for more than 1 month\". On January 7, 2023, she was admitted to the breast surgery Department of Taihe Hospital, Hubei University of Medicine. In the past 1 month, she felt a mass in the left breast, and the nipple was not bleeding or leaking. The patient had a history of hypertension for 30 years and cerebral hemorrhage for more than 1 year. In 2013, she underwent \"left breast mass resection\" in our hospital, and the pathological report was cystic hyperplasia (left breast). Clinical physical examination: a hard mass of about 3.0x2.0cm in size could be detected at 4cm from the nipple in the upper outer quadrant of the left breast, with no obvious tenderness, non-smooth surface, unclear boundary, and limited motion. No obvious abnormalities in the contralateral breast were found. There is no obvious mass in the bilateral axilla. The color ultrasound of the breast showed that there was a low-echo mass located at the edge of the mammary gland at 2 points in the left upper quadrant, with a size of 23x25x19mm, the boundary was not clear, and the shape was irregular, and no strong punctate echo was observed ( Figure 1A ). The combination of contrax-enhanced ultrasound suggested hypoechoic mass in the left breast, uneven enhancement in the arterial phase, unsmooth boundary, slow regression in the venous phase, and obvious enlargement in the lesion area identified as BI-RADS Category V. Reactive hyperplasia of bilateral axillary lymph nodes.\nPreoperative core needle biopsy (CNB) was performed on the left breast mass on January 11, 2023. Pathological diagnosis was malignant tumor, the specific type was not clear, and further diagnosis was to be made after surgery. The patient given up breast conserve surgery. Mastectomy and sentinel lymph node biopsy of the left breast was performed. No metastasis was found in 3 sentinel lymph nodes identified by carbon nanoparticles and methylene blue double staining. Pathological examination results: the size of the left breast was 23x18x3.0cm, and the fusiform skin was attached, the size of which was 19.5x7.0cm ( Figure 1B ). The size of the tumor was 3.0cmx2.5cmx2.2cm. The section was grayish-white and slightly hard in nature, and the boundary was poorly defined or poorly circumscribed. The tumor was 2.2cm away from the skin and 0.5cm away from the deep margin. TNM stage given was pT2N0M0.\nThe tumor is composed of two components: (1) The normal breast lobular structure is disordered or disappeared. The tumor has a lobulated mass ( Figure 1C ), which is composed of epithelial and stromal components. The epithelial cells are columnar or cuboidal without obviously atypia. Stromal cells are fusiform, the cytological atypia was obvious ( Figure 1D ), with 10 mitotic images/10HPF. And the epithelioid stromal cells are interspersed with short fusiform plump cells and mononuclear/multinucleoma giant cells. Local stromal cells form pseudoadenoid or clumps or nests. Mesenchymal myxoid changes in some areas of the tumor, the mesenchymal cells are sparse, epithelioid or spindle, and scattered tumor giant cells are also seen. About 1/5 of the tumor interstitial tissues showed fibrosis or hyalinoid degeneration. (2) Heterogenic components of tumor mesenchyma were observed: cartilage and bone tissue. The cartilage tissue presented cartilaginous islands of different sizes. The stroma showed a tumor osteoid rimmed by tumor cells along with osteoclastic giant cells, osteosarcoma differentiation. Tumor cells surrounded trabeculae, and the cell atypia was significant, showing mitotic images ( Figure 1E ). Chondrocytes of different density were observed with obvious cell atypia, and mitotic images ( Figure 1F ). (3) Immunohistochemistry: Spindle tumor cells ER(-), PR(-), HER-2(-), CK-pan(-), CK7(-), CK8(-), SOX10(-), S100(-), and MDM2(-), CK5/6(-), P63(-), P40(-) were all negative. CD34:(+), SATB2(+), P53(90% strong), CD68 (+), Ki-67(LI: about 60%) ( Figure 2 ). (4) No ductal carcinoma in situ was found in the breast, and no metastasis were found in axillary lymph nodes. Pathological consultation advice of Union Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology: Malignant (breast) phyllodes tumor with osteosarcoma and chondrosarcoma differentiation was considered.\nTwo-color separation probe kit was purchased from Lbp Medicine Science & Technology (Guangzhou, China) which was adopted to detect USP6 on formalin-fixed, paraffin-embedded (FFPE) tissue sections. The probe is located on chromosome 17p13.2, the proximal (proximal centromere) probe marks red fluorescence, and the distal (proximal telomere) probe marks green fluorescence. Fluorescence in situ hybridization (FISH) testing procedure was in strict accordance with the standardized steps: The 3-5mum thick tissue was sliced, incubated for 2 h at (65 +- 5) C, dewaxed and hydrated, deionized boiled at (100 +- 5) C for 20 min, digested by pepsin for 15 min, dripped with a probe, denatured at 85 C for 5 min, and hybridized at 37 C for 10-18 h. Nuclear restaining of 4 ', 6 diamidino 2 'phenylindole (DAPI) under fluorescence microscope.\nResults Interpretation: The FISH results were interpreted independently by two experienced pathologists: 200 neoplastic cells in a blind fashion using an Olympus BX53 fluorescence microscope (Japan) were counted, the distance between red signal and green signal was > 2 signal points as positive cells, and the proportion of positive cells was > 10% as positive for separation and rearrangement. FISH showed USP6 positively rate was 2% which indicated negative expression on sections ( Figure 3 ).\nAfter radical resection of the left breast, anthracycline and ifosfamide chemotharapy were adopted for four cycles, and the patient still survived without any recurrence after eight months of follow up.",
"gender": "Female"
}
] |
PMC11066275
|
[
{
"age": 0,
"case_id": "PMC11449301_01",
"case_text": "Participants in Experiment 2 (n = 12; female = 9, male = 2, non-binary = 1) were recruited from the subset of participants in Experiment 1 who demonstrated ISAP ability. As for Experiment 1, the sample size was determined through simulations drawing random samples from our previous case-report data (see for further details). Participants were 44.0 years old on average (range 18-65, SD = 17.6). Responding to the single-measure self-identification question from the Ollen Musical Sophistication Index, nine participants identified as professional musicians and three as semi-professional musicians. Participants had been playing oboe for an average of 31.6 years (range = 8-54, SD = 16.9). Within the week prior to the experiment, participants reported having played oboe for an average of 10.8 hours (range 0-24, SD = 9.1). When asked to estimate their average weekly practice over the past six months, participants reported an average of 9.7 hours (range 0-22, SD = 7.7).\nThe oboe tones from the MUMS soundbank used for Experiment 1 were also used in Experiment 2. Sound clip segmentation, peak-normalization, and file formats are thus as described above.\nFor the purposes of generating the pitch-shifted stimuli, the Pitch Shift function in Cubase 7.0.5 was used to manipulate a copy of each sound clip. Specifically, pitch was shifted up or down according to a pattern by which every consecutive set of eight pitches is transposed by +4, -1, +3, -2, +2, -3, +1, and -4 semitones. This process resulted in a new set with the same sounding pitches as the original one (see Table 1 in the Registered Report Protocol) and ensures that transpositions differ between consecutive octaves. Pitch shifting used the Time Correction setting to ensure that the duration of each clip stayed the same as well as the Solo Musical setting, which uses a high-quality algorithm optimized for offline processing of monophonic musical material. Formant Preservation was not applied because this setting generated clearly audible artefacts manifesting as background \"whirling\" noises before and after the oboe tones when preparing stimuli for a previous experiment.\nTo test for effects of motor imagery on ISAP, we developed an interference task that was expected to impair pitch-naming accuracy because it increases demands on motor-related brain areas involved in playing the instrument. In the case of the oboe, this includes the hands and fingers as well as lips and jaw, which are called upon for crucial embouchure adjustments while playing.\nMotor tasks may interfere with auditory imagery; for example, Beaman, Powell, and Rapley found that chewing gum has negative effects on spontaneous musical recollection (earworms), in support of the idea that chewing gum interferes with motor-related subvocalization or subvocalization-like processes that are linked to earworms. Consequently, a motor interference task was implemented in Experiment 2. Although the gum-chewing task was used in a prior case-study experiment, in which the experimenters were physically present to provide the gum, this method could not be employed in the current experiment, as participants performed the task virtually and were not expected to have gum readily available. Furthermore, it would be difficult to assess compliance with the gum-chewing task via videoconferencing software. Instead, we agreed that a comparable task would be to hold a pen or pencil between the teeth. While this does not involve movement like gum-chewing does, the position does interfere with the ability to manipulate the lips, tongue, and embouchure-related muscles, and we were able to easily assess via Zoom whether or not the participant complied with the task.\nExperiment 2 comprised a full factorial design crossing the following two two-level factors: transposition (original vs. pitch-shifted), and motor interference (no interference vs. motor interference). Transposition, in this regard, refers to the fact that half of the presented tones had been pitch-shifted as described in the Stimuli section above. Whereas the no interference condition entailed no further task in addition to pitch identification, the motor interference condition entailed two concurrent tasks which were performed by the oboists while listening to the stimuli and identifying pitches. Specifically, in this condition, oboists were asked to hold a pen or pencil horizontally between their teeth and to continuously wiggle the fingers of their left hand. To remind participants which motor condition was in play during the experiment, images depicting the motor/no motor condition were included before each block as well as during all trials in the upper right corner of the experiment interface. These images contained clip art of a woman holding a pencil between her teeth and a man wiggling the fingers of his left hand with a plus sign in between and a version of the same images grayed out and crossed out.\nBased on the experimental design and simulations using the case-report data, Experiment 2 consisted of four blocks of 18 trials each (Fig 2). Overall, each participant judged a total of 36 unique sound files, each presented twice (with and without motor interference) for a total of 72 trials. The 36 unique sound files consisted of 18 different tones presented at their original pitch level as well as the pitch-shifted versions of each of these 18 tones. During two of the four blocks, participants were instructed to engage in the motor interference task. Participants were not aware that half of the tones were artificially pitch-shifted. The 36 unique stimuli were randomly distributed across the two blocks of the motor interference condition and across the two blocks of the no motor interference condition, and the 18 stimuli in each block were presented to each oboist participant in random order. Experiment 2 was also created and hosted using the Gorilla Experiment Builder (www.gorilla.sc).\nThe 18 pitches tested for each oboist were selected with respect to their individual performance in Experiment 1; specifically, oboists were tested on the 18 pitches for which they demonstrated the highest accuracy (with ties determined by random selection). While ideally we would have tested the full range of the oboe for each participant, given the number of conditions, this would have resulted in an excessively long experiment. By selecting the pitches for each participant that yielded the highest accuracy in Experiment 1, our aim was to increase the likelihood of observing the predicted interference in accuracy. The subset of pitch-shifted tones were matched in original pitch to the base set of tones selected by means of previous success. This approach avoided a scenario in which the same set of 18 pitch names were correct within each of the four blocks. This, if noticed by the participants, could have provided a subtle cue influencing their responses in later blocks. This risk was further minimized through the random distribution of the 36 unique sound stimuli across the two blocks of each type. Due to a technical failure, one participant was exposed to the pitches intended for another participant. However, as 50% of the peak performance pitches for these two individuals were identical, we decided to include all data from this participant in the analysis.\nAfter each block, two validity check questions confirmed that participants always listened through headphones and complied with task instructions in terms of holding a pen or pencil between their teeth and moving their left fingers in the motor interference conditions or refraining from doing so in the conditions without motor interference. Participants completed the same post-experiment questions as described for Experiment 1.\nThe four blocks of Experiment 2 were presented in a reverse counterbalanced order for each participant (Fig 2). With two conditions:motor interference (M) and no interference (N):the two orders (M-N-N-M and N-M-M-N) were used an equal number of times across the participants in Experiment 2.\nUsing the glmer() function from the lme4 package, we built a logistic mixed effects model predicting pitch identification (correct or incorrect) with fixed binary effects for transposition and motor conditions, plus a random intercept term for participant (Fig 7). To test significance of each of these conditions, likelihood ratio tests were performed using the lrtest() function from the \"lmtest\" package. The effect of transposition was significant (X2 = 4.8411, p = .028); participants were more likely to identify artificially transposed pitches incorrectly as compared to untransposed pitches. The effect of motor interference was not significant (X2 = 0.0248, p = .875).\nTo model the degree of variation around the correct pitch value, a cumulative link model was fitted to absolute semitone error values using the clmm() function from the ordinal package. Terms again included transposition and motor interference as fixed binary effects plus a random intercept for participant. In order to obtain model convergence, absolute error values larger than 6 semitones had to be excluded. Likelihood ratio tests, here, showed no effects of transposition (X2 = 1.7011, p = .192) or motor interference (X2 = 1.1871, p = .276).\nResponse times and number of replays. As in Experiment 1, participants spent longer time on average for incorrect trials (mean of means = 18.7s, SD of means = 8.1s) as compared to correct trials (mean of means = 14.7s, SD of means = 7.8s), t(11) = -6.970, p < .001. Mean number of replays for stimuli was also higher for incorrect trials (median of means = 1.69, IQR of means = 0.61) than for correct trials (median of means = 1.32, IQR of means = 0.57), V = 9, p = .016, n = 12. However, no significant correlation was observed between overall accuracy and mean response time (rs(10) = -.2386, p = .455) or mean number of replays (rs(10) = -.2377, p = .457) for each participant across correct and incorrect trials.\nModeling transposition as a continuous variable. In the case-report data in, we found in secondary analysis that modeling pitch-shifting as a continuous variable (i.e., the absolute number of semitones shifted) rather than a binary variable improved the model slightly and lowered both the Akaike and Bayesian Information Criteria. Proper hypothesis-testing would require a research design optimized for answering this question; however, here, we declared an exploratory test along the lines of, for the purpose of determining whether future research should ideally operate with pitch-shifting as a continuous variable. This analysis showed no significant effects of absolute pitch-shifting (estimate = .0987 [95% CI: -.0955, .2940], z = 1.00, p = .316) or of motor interference (estimate = .04967 [95% CI: -.3876, .4876], z = 0.224, p = .823). Thus, pitch-identification accuracy did not appear to depend on the extent of pitch-shifting applied.\nDirection of pitch-shifting and semitone error. If our participants are indeed using timbre as a cue for pitch labelling, as theorized in our H1, then we would expect them to show a tendency to guess the original pitch of artificially pitch-shifted tones. Indeed, out of the 219 incorrect, pitch-shifted trials, participants erroneously guessed the original pitch in 45 trials (20.5%). However, because we know that not all incorrect responses are equally likely (cf. Fig 6), we cannot use the equiprobable chance level of 8.33% as a valid null hypothesis here.\nThus, for inferential tests of our prediction, we instead considered that the hypothesized tendency for guessing the original pitch would moreover result in a negative association between the direction of pitch-shifting and the direction of semitone error. That is, on incorrect trials, if a tone was pitch-shifted upwards, we would expect participants to underestimate pitch, and if a tone was pitch-shifted downwards, we would expect them to overestimate pitch. To test this approximation of our main conjecture, we observed that out of the 219 incorrect, pitch-shifted trials, those that were transposed upwards (n = 109), 72.5% (n = 79) were underestimated whereas 27.5% (n = 30) were overestimated. Out of those that were transposed downwards (n = 110), 44.5% (n = 49) were underestimated whereas 55.5% (n = 61) were overestimated. Consistent with our expectation, a chi-squared test with continuity correction found these proportions to differ significantly (chi2(1) = 16.456, p < .001).\nAccuracy and demographic/musical variables. Spearman's correlations were used to investigate potential relationships between accuracy and demographic and musical training variables. The number of hours participants reported playing oboe within the previous week was significantly correlated with their overall pitch-identification accuracy (rs = .7342, p = .007), as was the number of hours reported playing oboe per week on average over the course of the previous six months (rs = .6496, p = .022). No other significant correlations were observed.",
"gender": "Female"
}
] |
PMC11449301
|
[
{
"age": 1,
"case_id": "PMC11327068_01",
"case_text": "A 1-year-old, mixed breed, male neutered dog was presented to Ross University Veterinary Clinic, in St Kitts, West Indies with a several week history of abdominal distension, weight loss, and anorexia. Routine vaccinations and tick, flea, and heartworm preventatives had been given. On physical examination, the dog was bright and alert. Body condition score was 2 out of 9. Marked abdominal distention with a fluid thrill were noted. An initial neurological examination revealed no abnormalities.\nBlood samples were collected on day of presentation (day 0) and at revisits on days 2 and 8 (Table 1) for complete blood counts (CBC, Vetscan HM5 hematology analyzer, Zoetis) and biochemical analyses (Vetscan VS2 Chemistry Analyzer, Zoetis). Hepatic dysfunction was evidenced by the combination of hypoalbuminemia, decreased urea, increased post-prandial bile acids, and prolonged partial thromboplastin time (aPTT). The non-regenerative anemia and thrombocytopenia were thought to be associated with ehrlichiosis, and the lymphopenia was likely due to stress, although immunosuppression could not be excluded. An immunochromatographic test (SNAP 4Dx Plus Test, IDEXX, United States) demonstrated a positive antibody test for Ehrlichia canis, E. ewingii, or a combination of the two. Due to antibody cross-reactivity, immunochromatography is not able to distinguish infections caused by these 2 pathogens.\nThoracic and abdominal ultrasonographies were performed. The only abnormalities seen were an enlarged liver, and a large volume of hypoechoic fluid within the abdomen. Analysis of abdominal fluid revealed a low-protein transudate with a total nucleated cell count of 140 cells/muL (Vetscan HM5 hematology analyzer, Zoetis) and total protein estimate of 0.2 g/dL. Predominate cell types were macrophages and nondegenerate neutrophils. Some of the neutrophils contained intra-cytoplasmic inclusions interpreted as Ehrlichia spp. Morulae (Figure 1).\nThe dog was treated with Doxycycline for ehrlichiosis and received a single injection of Furosemide (1.5 mg/kg), followed by Spironolactone 1.1 mg/kg twice daily. The dog presented 6 days after initiation of therapy and the ascites had improved slightly. A second revisit appointment was planned, but the dog was not doing well, and the appointment was canceled. He began stumbling and falling and collapsed 5 days later and was humanely euthanized.\nAutopsy demonstrated a large volume of ascitic fluid with multiple extrahepatic tortuous vessels along the inferior vena cava within the mesentery medial to the kidneys, consistent with acquired portosystemic shunts (Figure 2). The liver and spleen were 3- to 4-fold enlarged, the kidneys were mildly enlarged, and the lymph nodes were variably firm and prominent. Multifocal nodules, that were white to tan, soft, and 2-15 mm in greatest diameter by 2-8 in smallest, were noted in liver, spleen, kidneys, myocardium and pancreas. The brain had a single similar nodule that was approximately 1.5 cm in diameter, located in the right mid-dorsal parietal lobe and contained central hemorrhage (Figure 2). Cytologic imprints showed pyogranulomatous inflammation and numerous fungal hyphae. Histopathology confirmed severe, multifocal to coalescing, chronic pyogranulomatous hepatitis, nephritis and adrenalitis with fungal sepsis and necrotizing meningoencephalitis (Figure 3). The liver also showed histologic evidence of diffuse rarefactive hepatocellular degeneration, extensive sinusoidal congestion, and multifocal to coalescing necrosis.\nA fungus with dark gray, branched hyphae was recovered in culture (Sabouraud dextrose agar medium under 30 C) (Figure 4). The isolate along with fragments of brain were further analyzed by rRNA gene sequencing, with a nested PCR first amplifying the 3' end of 18S rRNA gene to the ITS2 region and internal primers subsequently targeting the ITS1 region. Obtained sequences presented 99.8% similarity to Cladophialophora bantiana using BLAST searches in GenBank.\nTo further identify the rickettsial infection, DNA was extracted and purified from whole blood in EDTA and peritoneal fluid. Genomic DNA from blood and fluid were tested for 16S rRNA gene in Anaplasmataceae via conventional PCR; 16S rRNA gene for the sequencing Anaplasmataceae via conventional PCR (Size of product 866 bp); dsb gene for sequencing of Ehrlichia sp. (409 bp) msp2 gene of A. phagocytophilum via conventional PCR; msp2 gene of A. phagocytophilum via real time PCR; p28 gene for the detection of E. ewingi via conventional PCR. Both blood and abdominal fluid were positive for a 16S screening, 16S and Dsb sequencing protocols. Obtained sequences (16S and Dsb) presented 98-99% identity to E. canis. Samples were negative for all the other tested genes and pathogens, excluding the possibility of co-infection with A. phagocytophilum and E. ewingii.",
"gender": "Male"
}
] |
PMC11327068
|
[
{
"age": 49,
"case_id": "PMC11424433_01",
"case_text": "A 49-year-old female patient was admitted in 2021 with a complaint of chest tightness and a shortness of breath, symptoms that had been present for a year and were exacerbated by satiety and physical activity. She was diagnosed with non-ST segment elevation myocardial infarction with stenosis of the left main trunk (LM) and right coronary artery (RCA) (Figure 1) and had undergone percutaneous trans-luminal coronary angioplasty and intervention, followed by secondary prevention and treatment for coronary heart disease. Recently, the aforementioned symptoms have re-emerged. The patient reported no fever, rash, oral or genital ulcers, erythema nodosum, or intermittent claudication.\nA comprehensive medical history (Figure 2) revealed a history of sudden hearing loss, vertigo, and nausea, with recurrent episodes from 9 years ago. She had experienced episodes of redness and blurred vision in both eyes 8 years ago, which improved with antibiotic and corticosteroid treatment. Over the years, she had also suffered from symptoms of vertigo and blurred vision, accompanied by photophobia, which were alleviated with glucocorticoid use, although her hearing progressively declined. In addition, she had a history of limb venous thrombosis, which responded to anticoagulant treatment. There were no special family and psychosocial histories and genetic disorders.\nPhysical examination findings included a nebula on the lateral edge of the cornea in both eyes, decreased hearing in both ears, and reduced pulsation in the radial, brachial, and dorsal pedal arteries, particularly on the right side. Vascular murmurs were detected in the auscultation areas of the bilateral carotid, subclavian, renal, and iliac arteries and abdominal aorta.\nIn laboratory tests, the erythrocyte sedimentation rate was 97 mm/1 h, C-reactive protein was above 20 mg/L, complement C3 was 1.72 g/L, complement C4 was normal, immunoglobulin and serum immunoglobulin G4 were normal, and IL-6 was 49.67 pg/ml. Antinuclear antibody profile, neutrophil cytoplasmic antibody, antiphospholipid antibody, interferon-gamma release assay for mycobacterium tuberculosis, syphilis antibody, and tumor marker tests were all negative, and n-terminal prohormone B-type natriuretic peptide was 185.00 pg/ml.\nUpon review, coronary angiography (CAG) showed in-stent restenosis (Figure 1). Echocardiography revealed thinning of the left ventricular inferior wall basal segment, mild aortic regurgitation, and decreased left ventricular diastolic function. Positron emission tomography/computed tomography (PET/CT) demonstrated an increased uptake of (18)F-fluorodeoxyglucose (18F-FDG) in the aorta and its primary branches, as well as in the coronary arteries (Figure 3).\nGiven the patient's ocular, auditory, vestibular, and vascular symptoms, a diagnosis of CS was confirmed. We conducted a differential diagnosis to rule out the following conditions: (1) Takayasu's arteritis: the patient presented with multiple arterial stenoses, necessitating the consideration of Takayasu's arteritis. However, the occurrence of stromal keratitis and sensorineural hearing loss did not align with the typical manifestations of this condition. (2) Antiphospholipid syndrome: the patient's history of recurrent thrombosis and multiple arterial stenoses raised the possibility of antiphospholipid syndrome. However, the absence of phospholipid antibodies in all tests negated this diagnosis. (3) Behcet's syndrome: despite the need to consider Behcet's syndrome given the patient's symptoms, the lack of oral and genital ulcers, erythema nodosum, and other characteristic skin changes, as well as the absence of ocular involvement, did not fulfill the criteria for this diagnosis.\nThe patient was managed conservatively without undergoing repeat percutaneous coronary intervention (rePCI) or bypass surgery involving the internal mammary artery (IMA) to the left anterior descending artery (LAD). The patient was managed conservatively with aspirin, clopidogrel, and isosorbide mononitrate. In tandem with this approach, we initiated a therapeutic regimen that included a combination of corticosteroids and cyclophosphamide to address vasculitis at the same time. The treatment began with prednisone at a dosage of 50 mg once daily, complemented by intravenous cyclophosphamide at 0.4 g administered biweekly. Subsequently, we implemented a gradual reduction in prednisone and transitioned to methotrexate at 15 mg weekly to alleviate the potential long-term adverse effects associated with cyclophosphamide.\nThe patient maintained remission over the subsequent 3 years, with no recurrence of chest pain, stable vision and hearing, and no further episodes of venous thrombosis. Laboratory tests and coronary angiography remained stable. The patient had good adherence and tolerability to the intervention, and no adverse or unanticipated events occurred.",
"gender": "Female"
}
] |
PMC11424433
|
[
{
"age": 22,
"case_id": "PMC10770757_01",
"case_text": "A 22-year-old woman was admitted to our hospital with worsening respiratory distress and a bleeding tendency. She was diagnosed with GSD at the age of 12 years and had been taking sirolimus for chylothorax since the age of 15 (Supplementary Figures S1 and S2). The consumptive coagulopathy began over 5 years earlier, and subcutaneous hemorrhage had been observed for over 1 year. Physical examination at admission revealed fine crackles in the lower lung field, pallor of the palpebral conjunctiva, bloody sputum, increased subcutaneous hemorrhage (mixed ecchymosis and suggillation), and severe edema of the lower body. Blood tests showed anemia (hemoglobin level: 7.2g/dL), thrombocytopenia (platelet count: 50 x 109/L), and coagulation abnormalities (fibrinogen level: 90 mg/dL, fibrin/fibrinogen degradation products level: 511.5mug/mL). The computerized tomography scan showed pulmonary congestion, pleural effusion, and high-density areas scattered in the soft tissues of the mediastinum, pleura, and subcutis, suggesting lymphangioma. No active hemorrhagic lesions were observed. After admission, supportive therapy, including blood transfusions, diuretics, and albumin, was administered. However, her edema and respiratory condition worsened, and she died 21 days after admission. During these studies, the palliative treatment for the patient was documented in an independent case report.\nDuring hospitalization, the CLEC-2 expression on platelets was examined by flow cytometry. Flow cytometry with each anti-CLEC-2 monoclonal antibody (mAb) (4A10 or 15D10_2, established in our laboratory) (Supplementary Figure S3) was negative for the majority (approximately 80%) of the patient's platelets, suggesting a CLEC-2 deficiency (Figure 1A). Next, CD62P expression on the platelets after stimulation was analyzed using flow cytometry to assess the platelet activation ability. Most platelets were not activated upon stimulation with rhodocytin, a ligand for CLEC-2. In contrast, stimulation with collagen-related peptide, a ligand for the collagen receptor glycoprotein VI, activated all the platelets, indicating that the platelets retained their activation potential (Figure 1B). Interestingly, flow cytometry with an anti-CLEC-2 polyclonal antibody (R&D Systems) detected CLEC-2 on the patient's platelets (Figure 1A). Washed platelet whole-cell lysates were prepared, and CLEC-2 expression was examined by western blotting. Another mAb (11E6, established in our laboratory), in addition to the polyclonal antibody, detected CLEC-2, and its expression level in the patient was comparable to that in the healthy donor (Figure 1C). We synthesized cDNA by reverse-transcription of RNA extracted from washed platelets and quantified expression levels of CLEC1B and other genes encoding platelet membrane proteins. All primer information in this study is listed in Supplementary Table S1. There was no difference in platelet CLEC1B expression level between the patient and healthy controls (Figure 1D), consistent with the western blotting results. These findings suggest that CLEC-2 is present in the patient's platelets; however, the platelets express structurally abnormal CLEC-2, which cannot be detected using certain mAbs (4A10 and 15D10_2). Furthermore, structural abnormalities in CLEC-2 may have caused functional abnormalities.\nWe first considered the possibility that autoantibodies or podoplanin already bind to CLEC-2 as a reason why CLEC-2 cannot be detected with certain antibodies. To examine autoantibodies against CLEC-2, IgG was purified from sera using protein G columns. Purified IgG was added to human CLEC-2-expressing T-REx 293 cells, and then incubated. The binding of IgG to cells was detected by flow cytometry using a fluorescence-labeled anti-human IgG antibody. Autoantibodies against CLEC-2 were not detected (Figure 1E). To investigate the binding of podoplanin to CLEC-2 on platelets, western blotting was performed using whole-cell lysates from washed platelets. Podoplanin was not detected in the platelets (Figure 1F).\nFinally, we hypothesized that a genetic variant of CLEC1B, the gene encoding CLEC-2, leads to amino acid changes in the mAb-binding and/or rhodocytin-binding sites. We extracted DNA from the buffy coat and executed Sanger sequencing of the promoter, all exons, and their flanking regions in CLEC1B and whole-genome sequencing (WGS). Sanger sequencing and WGS identified 4 missense, 13 intron, and 1 5-prime-UTR variants, all of which are listed in the dbSNP, the single nucleotide polymorphism database. The 4 missense variants were reported as single nucleotide polymorphism with allele frequency in East Asia >=0.17, and all of them were predicted to be tolerated by functional analysis through hidden Markov models (Table). Therefore, we conclude that germline CLEC1B mutations are not involved in CLEC-2 abnormalities. Furthermore, considering the possibility of splicing variants or somatic mutation restricted in megakaryocytes/platelets, we examined CLEC1B cDNA synthesized from platelet-derived mRNA through electrophoresis and Sanger sequencing. The patient's CLEC1B cDNA size was identical to that of a healthy control without any splicing variant (Figure 1G). Sanger sequencing revealed 4 missense variants consistent with WGS results (Table). Thus, somatic CLEC1B mutations in megakaryocytes or platelets were excluded.",
"gender": "Female"
}
] |
PMC10770757
|
[
{
"age": 38,
"case_id": "PMC10850558_01",
"case_text": "A 38-year-old Chinese male presented with a two-year history of unexplained fatigue, nocturia, and thirst. A recent hospitalization for pneumonia in a local facility identified hypokalemia (2.2 mmol/L). The patient was treated with 5.0-6.0 g/day of oral potassium chloride sustained-release tablets, anti-infection, and phlegm-resolving therapy, which ameliorated symptoms and stabilized blood potassium levels between 2.69-3.35 mmol/L. Due to the persistent low potassium levels, he was referred to our endocrine department.\nThe patient's blood pressure was measured at 112/81 mmHg. His measurements for waist circumference, hip circumference, and BMI were 92 cm, 100 cm, and 25.1 kg/m2, respectively. Laboratory analysis ( Table 1 ) revealed hypokalemia, hypochloremia, and blood magnesium at the lower limit of the normal range. The patient's arterial blood pH was alkaline. Urine tests revealed alkalinity with elevated renal potassium and chloride excretion, and a decreased urine calcium-to-creatinine ratio of 0.18. The 24 hour urine protein was within the normal range. The patient's electrocardiogram showed sinus rhythm, left axis deviation, and T-wave changes in leads I, aVL, II, and V4-V6. Comprehensive assessments involving cardiopulmonary, abdominal, and urinary ultrasounds, as well as neurological examinations and adrenal computed tomography, revealed no abnormalities.\nWith evident low blood potassium levels combined with an increase in urinary potassium excretion, the possibility of renal potassium loss in the patient was evident. While the patient maintained normal blood pressure and exhibited metabolic alkalosis, it became essential to contemplate the potential diagnoses of GS, Bartter syndrome, or diuretic usage. Notably, the patient had no history of diuretic utilization, and it's important to highlight that Bartter syndrome primarily manifests in infants and young children, whereas GS is more prevalent among adults. Given this context, the elevated likelihood of GS prompted the necessity for further differentiation through hydrochlorothiazide and furosemide testing. Experimental outcomes indicated a net increase of DeltaFECl by 0.652% following hydrochlorothiazide administration, and a surge by 14.659% post intravenous furosemide injection. These findings signified the patient's heightened sensitivity to furosemide and strongly supported the diagnosis of GS ( Table 2 ). The outcomes of the upright RAAS test revealed notable activation of the patient's RAAS, accompanied by a significant increase in renin levels during the supine position. Subsequent transition to an upright position further amplified the renin levels, consistent with the characteristic manifestation of GS ( Table 3 ).",
"gender": "Male"
},
{
"age": 34,
"case_id": "PMC10850558_02",
"case_text": "Impaired glucose tolerance is a common characteristic among patients with GS. In this particular case, the patient presented with a fasting blood glucose level exceeding 7 mmol/L and an HbA1c > 6.5% upon admission. In order to gain further insights into the patient's blood glucose profile, an OGTT was administered ( Figures 1A-C ). The results unveiled that the patient's blood glucose level measured 2 hours after glucose ingestion exceeded 11.1 mmol/L, satisfying the diagnostic criteria for diabetes. Furthermore, the patient exhibited a fasting insulin level of >20 mU/L, with insulin levels soaring to 458.5 mU/L 2 hours after glucose intake, and a HOMA-IR of 8.84 ( Figure 1D ), signifying a notable degree of insulin resistance. For comparative analysis, we collected data from 46 GS patients in our department, including 30 males (65.2%) and 16 females (34.8%), with an average age of 34.7 +- 13.6 (Q1-Q3: 24.2-43.0) years old, BMI of 25.1 +- 3.6 kg/m2 (Q1-Q3: 22.3-27.5), blood potassium levels of 2.8 +- 0.4 mmol/L (Q1-Q3: 2.6-3.1), blood magnesium levels of 0.6 +- 0.2 mmol/L (Q1-Q3: 0.5-0.8), HbA1c levels of 5.6 +- 0.8% (Q1-Q3: 5.2-5.9) ( Figure 2A ), fasting insulin of 12.4 +- 7.0 mu/L (Q1-Q3: 6.7-17.0) ( Figure 2B ) and HOMA-IR of 2.8 +- 1.7 (Q1-Q3: 1.6-4.1) ( Figure 2C ). Remarkably, this patient exhibited the highest HOMA-IR value and the most severe insulin resistance among this population, despite a relatively average weight and non-critically low magnesium and potassium levels. The patient's parents and brother did not exhibit hypokalemia, yet the patient's mother had a 15-year history of diabetes, initiating insulin therapy during the fifth year of her diabetes diagnosis. Additionally, the patient's brother exhibited impaired glucose tolerance. Regarding the exocrine pancreas, the patient's pancreatic enzyme levels were within the normal range (serum lipase 26.3 U/L (13-60) and serum amylase 53.8 U/L (0-150)). Additionally, no signs of pancreatic dysfunction were evident in the patient, his mother, or younger brother. In light of these familial associations, the patient underwent genetic testing to ascertain the presence of gene abnormalities that could potentially relate to both the hypokalemia and diabetes phenotype.\nFollowing the acquisition of written informed consent from the patient and his family, genomic DNA sequencing was undertaken. The sequencing identified the patient as a compound heterozygote with three distinct mutations in the SLC12A3 gene: c.1108G>C, c.676G>A, and c.2398G>A. Sequencing at the 1108th base of the 9th exon of SLC12A3 revealed a G-to-C substitution, resulting in an amino acid substitution from Ala to Pro at position 370. Sequencing at the 676th base of the 5th exon of SLC12A3 showed a G-to-A substitution, leading to an amino acid substitution from Ala to Thr at position 226. Sequencing at the 2398th base of the 20th exon of SLC12A3 demonstrated a G-to-A substitution, causing an amino acid substitution from Gly to Arg at position 800. The detailed mutation site distribution map of the NCC is presented in Figure 3A , and the predictive three-dimensional structural diagrams for the missense mutations are displayed in Figure 3B . The p.Ala370Pro mutation is located in the transmembrane region of NCC, while the other two mutation sites are in the intracellular segment of the protein. Figure 3C presents the DNA sequence analysis of SLC12A3, showing the specific nucleotide substitutions and resulting amino acid changes. Using computational prediction tools, we assessed the potential implications of these mutations, with findings consolidated in Table 4 . Our analysis pinpointed the first two mutations, which translated into the missense variants p.Ala370Pro and p.Ala226Thr at the protein level, as likely contributors to the pathogenic features of GS. It's significant to note that previous studies have associated these mutations with the disease's pathogenesis. The third mutation, however, was deduced to be benign. Sanger sequencing-based family verification revealed the inheritance pattern of these mutations: the SLC12A3 c.676G>A mutation was maternally inherited, while the remaining two were paternally derived (depicted in Figure 4 ). Adding another layer of complexity, the patient also harbored a mutation in the PDX1 gene: c.97C>G in exon 1 ( Figure 3C ). This mutation, deemed pathogenic via software evaluation, aligns with existing literature affirming its pathogenicity. This PDX1 mutation was traced back to the patient's mother and was also identified in his younger brother. Furthermore, the patient transmitted both the SLC12A3 c.676G>A and PDX1 c.97C>G mutations to his two daughters (as shown in Figure 4 ), neither of whom currently manifest hypokalemia or abnormal glucose tolerance. Collectively, these genetic discoveries provide a compelling narrative that connects the dots between the patient's diabetes, pronounced insulin resistance, and the family's diabetes and impaired glucose tolerance history.\nThe patient was prescribed a regimen of oral supplements, consisting of potassium magnesium aspartate (316 mg/280 mg, 3 times daily), potassium chloride (2000 mg, 3 times daily), and spironolactone (20 mg, 1 time daily). Alongside medication, a diet rich in potassium was advised. To regulate blood glucose levels, Metformin was administered at a dose of 500 mg, three times daily. After a rigorous treatment period spanning 2.5 years, a detailed follow-up assessment was performed. This assessment covered essential metrics ( Table 1 ) such as blood potassium (3.55 mmol/L), blood magnesium (0.87 mmol/L), blood sodium (136 mmol/L), blood chloride (95 mmol/L), and HbA1c (6.1%), all of which collectively suggested effective disease management. Interestingly, a significant improvement was observed when Metformin was discontinued for a week before re-administering the OGTT (as detailed in Figures 1A-C ). The subsequent assessment unveiled a marked reduction in insulin resistance, highlighted by a HOMA-IR score of 5.45 ( Figure 1D ). This result intriguingly verifies that apart from the hypothesized effects of the PDX1 gene mutation, other contributing elements, such as decreased potassium and magnesium levels characteristic of GS, play a pivotal role in the multifaceted development of insulin resistance. It's worth highlighting that, despite this improvement, the patient's insulin resistance remained considerably higher compared to most individuals with GS.",
"gender": "Female"
}
] |
PMC10850558
|
[
{
"age": 12,
"case_id": "PMC10568571_01",
"case_text": "The proband (Case 1) was a 12-yr-old Japanese girl referred to our hospital for treatment of hyperglycemia. A non-fasting blood test revealed a plasma glucose level of 162 mg/dL and an HbA1c level of 8.7%. She refused insulin injections and was investigated to determine the exact type of diabetes and the most appropriate treatment plan. The maternal grandfather had insulin-dependent diabetes since his 40s, the maternal great-grandmother had retinopathy (details unknown), and the paternal grandmother had insulin-dependent diabetes. A right axillary subcutaneous abscess was excised while the patient was in elementary school, with no recurrence. Height was 160 cm, body weight 43.7 kg, and BMI 17.0 kg/m2. No skin pigmentation was observed. Tanner stage was breast 4th grade and pubic hair 4th grade. She had not attained menarche at the first hospital visit. Blood tests on admission showed fasting plasma glucose of 160 mg/dL, fasting immunoreactive insulin (IRI) 22.7 muU/mL, and serum C-peptide 2.36 ng/mL. The calculated HOMA-beta was 52.3 (30% above the normal control). Islet-specific autoantibodies, including anti-glutamic acid decarboxylase (GAD), anti-insulinoma-associated antigen-2, and insulin antibodies were negative. The glucagon test revealed a peak plasma glucose level of 160 mg/dL, with a serum C-peptide 3.52 ng/mL (Table 1). Based on these findings, the provisional diagnosis was type 2 diabetes mellitus.\nThe patient had a family history of juvenile-onset diabetes. However, the younger sister and mother had not yet developed diabetes. Therefore, we thoroughly explained the need for genetic testing and obtained informed consent. All three patients provided informed consent for the test. Sequence analysis identified a known heterozygous frameshift mutation, c.872dupC (p.Gly292Argfs*25), in HNF1A in all three family members. As this mutation is considered pathogenic in MODY3, referred to as ClinVar, and was consistent with the clinical course of the older sister, the diagnosis of MODY3 was considered valid.\nFigure 1 shows the patient's clinical course after discharge. Due to the absence of significant hyperglycemia and the refusal of insulin infusion, 500 mg/d of metformin was started. Continuous glucose monitoring using Libre Pro showed persistent hyperglycemia after breakfast (Fig. 2). Accordingly, 25 mg of miglitol was added before breakfast to control postprandial hyperglycemia. After the diagnosis of MODY3, 1 mg/d of glimepiride was administered based on the reported effectiveness in MODY3; however, due to complaints of abdominal pain and diarrhea, miglitol was discontinued. The glimepiride dose was increased to 2 mg/d, followed by a gradual escalation of metformin to 1000 mg/d. However, metformin was discontinued due to worsening abdominal discomfort. After an extensive discussion about the need for and importance of insulin therapy in supplementing the endogenous insulin secretion capacity, the patient grudgingly agreed to insulin therapy. Accordingly, insulin degludec/aspart combination at 0.6 units/kg body weight/d in the morning and ipragliflozin at 50 mg/d were selected to minimize the number of injections. HbA1c levels gradually improved to 6.6-7.2%. The insulin degludec/aspart was titrated up to 0.8 units/kg/d with increased food intake and decreasing activity. At that point, she complained about the complexity of the oral treatment and desired a switch to insulin. Accordingly, oral medications were replaced with an insulin pump following increased snacking, which was associated with clinical improvement.\nNevertheless, the HbA1c levels worsened to a maximum of 13.2% due to poor adherence to insulin infusion. After discussing the condition with the patient and her mother, she resumed aspart 50 mix twice in the morning and evening at 1.0 units/kg/d, glimepiride 2 mg/d, and ipragliflozin 50 mg during hospitalization. The preprandial plasma glucose level gradually decreased from 310 mg/dL before hospitalization to 94-116 mg/dL after four days without hypoglycemia following the start of the new treatment regimen. One month after the resumption of oral glucose-lowering therapy, the HbA1c level decreased to approximately 10%. At the last clinical visit at the age of 16 yr, the patient continued to adhere to the treatment.\nThe mother (Case 2) was diagnosed with MODY3 at age 34, when the proband was genetically diagnosed with MODY3. During her second pregnancy at 24 yr of age, she had a positive glucose challenge test but did not meet the diagnostic criteria for diabetes mellitus in the 75-g oral glucose tolerance test. At age 34, she was found to have an abnormal blood glucose test result on the annual work-sponsored health check, with a fasting plasma glucose level of 148 mg/dL, HbA1c level of 8.3%, and serum C-peptide 1.08 ng/mL. The fasting IRI levels were not assessed. The patient tested negative for anti-GAD antibodies. Following the diagnosis of diabetes, the patient was started on 500 mg/d of metformin. Due to diarrhea, the patient was switched to 50 mg/d of sitagliptin and 150 mg/d of miglitol. Despite the combination of medications and dietary restrictions, the HbA1c levels remained above 8%. Through close clinical management, she gradually adopted a carbohydrate-strict diet with an insulin/carbohydrate ratio of 1.0 units/ 10 grams and a correction factor of 50 mg/dL/unit, in addition to Degludec at 15 units/d. Finally, she selected intensive insulin therapy, rather than glimepiride, combined with carbohydrate counting due to her busy work schedule and difficulty with continuing dietary therapy. Currently, the mother receives an insulin dose of 1.0 units/kg body weight/d, with HbA1c within the 7% range.",
"gender": "Female"
},
{
"age": 8,
"case_id": "PMC10568571_02",
"case_text": "The proband's younger sister (Case 3) was diagnosed with MODY3 at eight years old when the proband was genetically diagnosed with MODY3. She had no significant symptoms before genetic testing, with a fasting plasma glucose level of 90 mg/dL and an HbA1c level of 5.7%. Height was 139.3 cm, body weight 42.2 kg, and BMI 21.75 kg/m2. No skin pigmentation was observed. Tanner stage was breast 2nd grade and pubic hair 1st grade. She had not attained menarche at the first hospital visit. At 10 yr of age, laboratory tests showed fasting plasma glucose 160 mg/dL, HbA1c 6.7%, IRI 18.1 muU/mL, serum C-peptide 3.47 ng/mL, and anti-GAD antibody negative. She was started on 1 mg/d of glimepiride, which improved tenesmus and HbA1c levels (diminishing to 6.0%). Five months after the start of treatment, the HbA1c levels increased to 6.5%. She underwent continuous glucose monitoring using Libre Pro , which identified increased glucose levels following a post-lunch snack. Accordingly, she was advised to take 30 mg of nateglinide before consuming a large meal, followed by 25 mg/d of ipragliflozin. At the last clinical examination, her diabetes was under control, with an HbA1c level of 6.5-7%.\nAll procedures performed in this study adhered to the ethical standards of the institutional and national research committees and the 2013-revised Helsinki Declaration. Genetic examinations were approved by the Ethics Committee of Osaka City General Hospital (#742). Written informed consent for the publication of patient data, images, and genetic test results was obtained from the patient's mother.",
"gender": "Female"
}
] |
PMC10568571
|
[
{
"age": 19,
"case_id": "PMC11211542_01",
"case_text": "The patient is a 19-year-old woman, and she was in good health in the past. The patient developed right upper abdominal pain with paroxysmal colic, accompanied by radiating pain in the right shoulder without any obvious causes 3 months ago, and abdominal ultrasound suggested gallbladder stones with cholecystitis. She did not receive treatment at first, then the pain worsened and she was admitted to the hospital because of recurrent right upper abdominal pain for more than 3 months. After admission, magnetic resonance cholangiopancreatography (MRCP) showed multiple gallbladder stones, cholecystitis, acute pancreatitis with exudation and abdominal effusion. It was also accompanied by abnormal biochemical parameters. The proposed admission was followed by cholecystectomy, and the diagnosis of acute pancreatitis was made in conjunction with ancillary tests. The patient's symptoms were relieved after treatment with antibiotics and inhibition of pancreatic enzyme secretion. Laparoscopic cholecystectomy was performed for further treatment after ruling out contraindications to surgery. During the operation, dense tissue was found in the gallbladder triangle, and the whole layer of the gallbladder plate was edematous. After stripping the gallbladder, bile overflowed from the liver near the gallbladder triangle, and dissection of the right hepatic duct revealed that the wall of the right hepatic duct was broken in the section of the right hepatic duct toward the hepatic hilum, which was considered to be adhesion between the right hepatic duct and the wall of the gallbladder, so repair of the lateral wall of the right hepatic duct was carried out, and a drainage tube was put in place for draining the bile. After surgery, the subhepatic drain drained about 100 mL of light brown fluid per day and the subhepatic negative pressure drain drained 10 mL of light brown fluid, which could be due to bile leakage. After treatment with antibiotics and antispasmodic therapy, the symptoms showed significant improvement.\nAfter 12 days, the patient's subhepatic drain was draining approximately 50 mL of bile per day, and a repeat MRCP demonstrated a right posterior hepatic duct variant and right posterior hepatic duct injury. Abdominal computed tomography (CT) showed trace pelvic effusion after gallbladder surgery. A consultation with an outside specialist concluded that the bile leak was unlikely to disappear on its own and that an elective partial hepatectomy should be performed. After surgery, the right subdiaphragmatic drain drained about 5 mL of light red fluid per day, and the pelvic drain drained about 10 mL of light red fluid per day. The patient had low-grade fever and was considered to have a high possibility of bile leakage, and was treated with antibiotics, acid suppression, gastric protection, and nutritional support, and the drains were removed sequentially. Repeat abdominal CT demonstrated a massed and flaky pneumatoconcentric shadow, fluid flatness, and striated hyperdense shadow below the liver and in the surgical area after gallbladder surgery. This may be due to fluid and gas retention. Other symptoms were present, such as localized underglossing of adjacent gastric sinusoids and lateral wall of duodenum, fatty liver and a small amount of fluid accumulated in the abdominopelvic cavity (Figure 1A). CT images of the patient showed gas and fluid in the liver area, which may have been caused by poor drainage. The puncture and drainage procedure was performed under the guidance of CT images, and 100 mL of turbid fluid was drained. A drain was placed to continue drainage and approximately 120 mL of fluid was drained after 12 h. For verification of the possibility of a duodenal fistula, ascites was sent to be examined for amylase, and upper gastroenterography was suggestive of a duodenal fistula (Figure 1B).\nConsidering the biliary fistula as the cause of duodenal erosion, gastroscopy was performed to rule out underlying duodenal disease. After a clear diagnosis, a nasoenteric nutritional tube was placed under gastroscopy to the junction of duodenum and jejunum, and at the same time, the duodenal fistula was operated by purse-string suture with nylon cords, and nasal feeding was given after the operation, and the patient was discharged after recovery (Figures 2A,B). Twenty days later, the patient was readmitted to the hospital for the discovery of a duodenal fistula for more than 1 month, and a repeat abdominal CT demonstrated hyperdense shadows at the lower edge of the liver and a slight resorption of gas compared to the previous contrast, and there was also a small amount of abdominopelvic effusion after gallbladder and duodenal surgery (Figure 2C). Upper gastrointestinal imaging showed no significant duodenal fistula (Figure 2D). The overall condition of the patient at follow-up was good.",
"gender": "Female"
}
] |
PMC11211542
|
[
{
"age": 70,
"case_id": "PMC10859400_01",
"case_text": "The patient, a 70-year-old individual with Type I skin (characterized by very fair skin, blue eyes, and a propensity to sunburn easily), presented with multiple underlying conditions, including type 2 diabetes, hypertension, and atherosclerosis. The patient had previously undergone angioplasty with stent implantation due to unstable angina pectoris and had also undergone a radical excision of a nodular malignant melanoma on their back, specifically a Clark IV lesion with a Breslow thickness of 3 mm, originating from a pigmented lesion. During the surgical procedure, enlarged lymph nodes in the left axillary region were observed, raising suspicion of metastatic involvement and leading to a lymphadenectomy.\nHowever, histopathological examination did not confirm the presence of cancer cells either in the surgical scar or in the removed lymph nodes. Subsequently, the patient was closely monitored for the development of generalized melanosis, which became apparent after undergoing angioplasty for unstable angina. The darkening of the skin, primarily affecting the face and torso ( Figure 1A ), began to manifest rapidly ( Figure 1B ). following the cardiac procedure. Initially, this skin discoloration and melanuria (darkened urine) were unaccompanied by other symptoms, and imaging studies failed to reveal signs of metastasis ( Figure 2 ). Laboratory tests in the early stages of the disease revealed leukocytosis (13.4 x 10^3/microL), elevated cholesterol levels (227.89 mg/dL), and an increased erythrocyte sedimentation rate (36 mm/h).\nAfter approximately four months, the patient began to experience weakness, though no significant weight loss occurred, and abdominal distension became noticeable. The patient was then referred to the internal medicine department, where laboratory tests revealed mild polycythemia (HGB 19.3 g/dL), hypercholesterolemia (268 mg/dL), elevated LDH (506 U/L), heightened ALP (alkaline phosphatase) (134 U/L), increased levels of Aspartate aminotransferase (Aspat) (65 U/L), Alanine aminotransferase (Alat) (42 U/L), total bilirubin elevation (1.6 mg/dL), increased indirect bilirubin (1.3 mg/dL), and elevated direct bilirubin (0.3 mg/dL). C-reactive protein (CRP) was also elevated (27.3 mg/L), while albumin levels were decreased (3.1 g/dL). Notably, urinalysis did not reveal significant abnormalities, except for the dark color of the urine.\nGiven the absence of a definitive diagnosis and ongoing health concerns, further diagnostic evaluations were initiated. Abdominal ultrasound unveiled a tumor in the right kidney, measuring approximately 3.5 cm. Neck ultrasound identified enlarged lymph nodes, each up to 15 mm in size, without substantial structural abnormalities. Thoracic CT scan displayed enlarged subcarinal lymph nodes, each measuring up to 15 mm, without signs of clustering or evident pathological structure. Colonoscopy did not detect significant abnormalities, except for edema of the colonic mucosa, mild inflammation with minor contact bleeding, and a few small polyps that were removed during the examination ( Figure 3A ). Endoscopy of the upper gastrointestinal tract revealed dark discoloration of the duodenal bulb, accompanied by pigment spots up to 3 mm in size, with no apparent pathological findings ( Figure 3B ). According to the endoscopist, this unusual presentation could suggest metastasis to the gastric mucosa. Nevertheless, histopathological examination failed to confirm the presence of malignancy.\nPositron Emission Tomography (PET) scan revealed inconclusive findings in the liver and right kidney. Assessment of the bladder proved challenging due to highly radioactive urine. Additionally, laboratory tests indicated a gradual increase in hemoglobin levels, leukocytosis, elevated CRP, and heightened LDH.\nIn light of unexplained generalized melanosis, a thorough dermatoscopic examination of the entire skin was conducted, revealing a darker pigmentation with a gray-blue hue on the discolored skin of the left arm. The dermatoscopic image suggested a metastatic change in the deep layers of the skin. A decision was made to proceed with further diagnostics at the Dermatology Department. A surgical biopsy of the skin on the left arm ultimately confirmed the diagnosis of melanoma metastasis. Additionally, an independent investigation of BRAF mutations was carried out, confirming a pathological alteration in codon V600E During the patient's stay in the Dermatology Department, LDH levels continued to rise (596 U/L), and inflammatory markers remained elevated. Notably, while all tumor markers, including CEA, Ca 15.3, Ca 19.9, and PSA, were within normal ranges, S100 protein levels were significantly elevated (19.32 microg/L).\nThe patient was subsequently transferred to the Lower Silesian Oncology Center with a confirmed diagnosis of metastatic melanoma. Hemoglobin levels continued to rise (19.6 g/dL), and various other laboratory values, including calcium, uric acid, albumin, bilirubin, transaminases, ALP, GGTP, and LDH, were found to be abnormal. A hematologist's consultation attributed the erythrocytosis to the underlying disease, prompting a decision to forego a bone marrow biopsy. Bloodletting was performed, and the patient was prescribed allopurinol, low-dose aspirin, and an increased fluid intake.\nOn July 25, 2012, the patient commenced the first cycle of DTIC (dacarbazine) chemotherapy, with moderate tolerance, albeit accompanied by side effects such as nausea, diarrhea, and increasing weakness. In Poland at that time there was no reimbursement access to BRAF and MEK inhibitors as well as immunotherapy. During the course of treatment, abdominal distension was observed due to ascites. A paracentesis was conducted, yielding approximately 3 liters of amber fluid. S100 protein and other markers continued to rise.\nFollowing the completion of the first chemotherapy cycle on July 29, 2012, the patient's weakness progressively worsened. On August 1, 2012, the patient presented with localized erythema, swelling, and increased warmth in the lower left extremity, indicative of rapidly progressing cellulitis (erysipelas) ( Figures 4A-E ).\nAntibiotics, antipyretics, anti-inflammatory medications, antifungals, and low molecular weight heparin were initiated, coupled with the elevation of the affected limb and increased fluid intake. The subsequent day witnessed the onset of quantitative disturbances in the patient's level of consciousness and a drop in blood pressure, culminating in their transfer to the hospital's Intensive Care Unit. Regrettably, the patient passed away on August 3, 2012.",
"gender": "Unknown"
}
] |
PMC10859400
|
[
{
"age": 8,
"case_id": "PMC10800787_01",
"case_text": "A female castrated, wire-haired dachshund of 8 years old was initially presented for episodic seizures, generalized tremors, and exercise intolerance. Pre-anesthetic blood work for MRI of the cranium revealed a mild hypoglycemia of 3.9 mmol/L (reference 4.2-5.8 mmol/L). The MRI examination showed no abnormalities. After 1 month, glycemia was rechecked and measured at 3.8 mmol/L. Concomitant hyperinsulinemia was measured at 67.0 mIU/L (reference 11.6-29.0 mIU/L), confirming a diagnosis of insulinoma. On abdominal triple-phase CECT-scan after 1 month, a o9 mm mass was observed midway in the right pancreatic lobe. No lymph node abnormalities were found. Awaiting a surgery appointment, diazoxide was started (4 mg/kg, twice daily, per oral). After 1 month, a partial pancreatectomy was performed through a right lateral flank approach in sternal recumbency as described above with placement of four portals. Macroscopically, the pancreatic lobe distal to the tumor appeared mildly hyperemic. During the pancreatectomy, the accessory pancreatic duct was most probably transected, based on intraoperative findings and anatomic location of the insulinoma (Figures 2A, 3A). Subsequently, laparoscopic cup-forcep biopsies were taken from a possible focal liver lesion with minor intraoperative bleeding, which was self-limiting. The size of the resected pancreatic tissue fragment was 7.6x1.5x2 cm. Glycemic levels were 3.2 mmol/L pre-operative, increased to 5.0-7.0 mmol/L intraoperatively after tumor resection, and increased further to 7.5-8.9 mmol/L during recovery in ICU. Total duration of the procedure was 125 min. During hospital stay, the appetite of the dogs was low, but small amount of food was ingested when fed forcefully. Analgesia was gradually tapered. After 2 days of surgery, the dog was clinically stable and normoglycemic, allowing discharge from the ICU. Appetite recovered completely in the home setting. Histopathologic examination confirmed a o2cm invasive malignant proliferation of the endocrine pancreas with minimal tumor-free margins and signs of vascular invasion. Additionally, signs of pancreatitis were observed in the remaining pancreatic tissue. The liver biopsy showed signs of reactive hepatitis, without signs of metastasis. Short-term recovery was excellent, and no complications were noted. At a 7-month post-surgery follow-up call with the owners, the dog was clinically unremarkable. After 11 months, the dog presented symptoms which were unrelated to the initial consultation, namely, diarrhea, vomiting, and anorexia. During the consultation, the dog was normoglycemic (4.8 mmol/L), no further examinations were performed, and the dog was discharged with a symptomatic treatment. The latest follow-up call was performed after 1,211 days of surgery. Apart from several subcutaneous mass lesions in the axillary and inguinal region, the dog seemed clinically healthy. At the time of owner contact, the survival time of this patient was 1,232 days after diagnosis, and no recurrence of clinical signs was noted.",
"gender": "Female"
},
{
"age": 8,
"case_id": "PMC10800787_02",
"case_text": "Case 2 was a female castrated, German Shepherd of 8 years old with clinical signs of weakness and tremors. Hypoglycemia (2.6 mmol/L) raised the suspicion of insulinoma, although the blood insulin level of 10mIU/L was just below the normal reference range (11.6-29.0). Triple phase abdominal CECT scan revealed a o15-mm nodule in the distal left pancreatic lobe, which, in conjunction with the clinical signs and hypoglycemia, made a diagnosis of insulinoma highly likely. After 1 week, a partial pancreatectomy through a 3-portal left laparoscopic flank approach in sternal recumbency was performed as described above. Access to and excision of the insulinoma was straight-forward (Figure 3B), without complications and intra-abdominal exploration, which showed no further abnormalities. The left pancreatic lobe was transected 1 cm proximal of the visible tumor. The resected pancreatic fragment measured at 5.1x3.5x1.5 cm. Glycemic levels were 2.8 mmol/L pre-operative, increased to 7.0-8.3 mmol/L intraoperative after tumor resection, and remained between 6.5 and 9.3 mmol/L during recovery in ICU. Total duration of the procedure was 94 min. During recovery, appetite gradually recovered, and analgesia was tapered. After surgery, the dog was clinically stable and normoglycemic and was discharged from the ICU after 1.5 days. Histopathologic examination of the mass with a diameter of approximately 1.5 cm confirmed an invasive growing malignant proliferation of the endocrine pancreas with minimal tumor-free margins. No clinical abnormalities were noted during a control visit at our referral center after 1 month, and neither recurrent clinical signs nor hypoglycemia, which was measured at home by the owners, were present thereafter as monitored through regular follow-up telephone calls. The dog was euthanized after 1,028 days of surgery due to pulmonary metastasis, possibly related to a splenic mass of unknown origin which was removed before 6 months. Survival time from diagnosis until euthanasia was 1,035 days, without recurrence of hypoglycemia in the mentioned time-period.",
"gender": "Female"
},
{
"age": 9,
"case_id": "PMC10800787_03",
"case_text": "A 9-year-old female castrated, Jack Russel Terrier was referred with a 2-month history of seizures and weakness, possibly related to prolonged intervals between meals. During diagnostics performed by the referring veterinary practice blood examination revealed hypoglycemia (2.8 mmol/L) and an abdominal ultrasound showed a pancreatic nodule in the left pancreatic lobe. Upon referral, hypoglycemia was also noted (2.3 mmol/L) while blood insulin level was within the normal range (18.0 mIU/L). A triple-phase CECT scan confirmed the presence of a o14 mm mass-like structure in the distal left pancreatic lobe without signs of concurring metastasis. During 1.5 weeks prior to surgery the dog's diet was adjusted (increased feeding frequency of lower quantities) as supportive measure. A 3-portal left flank approach in sternal recumbency easily revealed the mass in the distal left pancreatic lobe (Figure 3C), which was excised using LigaSure without damaging the closely associated splenic vein. A cup-forcep liver biopsy was taken of a small pale colored nodule of 2 mm in diameter in the left lateral liver lobe. Resected pancreatic tissue measured at 2.1x1.5x1cm. Glycemic levels were 2.2 mmol/L pre-operative, increased to 5.2-6.2 mmol/L intraoperative, and ranged between 5.5 and 10.5 mmol/L during recovery. Surgery duration was 66 min. During recovery, appetite gradually recovered, and analgesia was tapered quickly to less potent oral analgesics, and the dog was discharged from ICU after 1.5 days of surgery. Histopathologic examination of the mass with a diameter of approximately 1.5 cm confirmed malignant proliferation of the endocrine pancreas with invasive growth in surrounding fatty tissue and suspected invasion of blood vessels. The liver biopsy histopathology was consistent with steroid-induced hepatopathy without signs of metastasis. Short-term outcome was excellent, with increased activity and subsided seizures. After 3 months of surgery, a follow-up call was performed, and the dog was clinically unremarkable. The dog was presented, however, 246 days after surgery at our institution with recurrence of clinical signs of weakness, especially present after a prolonged interval between meals. Hypoglycemia (2.7 mmol/L) in conjunction with hyperinsulinemia (45.0 mIU/L) was noted. Following the initial blood examination, an abdominal ultrasound was performed, without any signs of local recurrence and/or metastasis. The owners did not choose to repeat CT staging. Diazoxide (5 mg/kg, twice daily, PO) was started, and meals were more frequently offered in order to manage hypoglycemia. Due to progressing disease, likely related to the progression of insulinoma and shown as generalized weakness and gastrointestinal signs, the dog was euthanized 690 days after diagnosis.",
"gender": "Female"
},
{
"age": 7,
"case_id": "PMC10800787_04",
"case_text": "A 7-year-old female castrated Boxer showed episodic weakness and imbalance in combination with tremors of the right hind leg. After performing multiple blood examinations, insulinoma was diagnosed due to hypoglycemia (2.2 mmol/L) and concomitant hyperinsulinemia (49mIU/L). The dog was referred to our hospital after 2 weeks. At this time, the dog showed no abnormalities in a general clinical examination. An ultrasound of the abdomen was executed, which raised suspicion of a mass in the left pancreas. Prednisolone (0.25 mg/kg twice daily PO) and diazoxide (5 mg/kg daily divided in two doses PO) were started, awaiting further diagnostics. Triple-phase abdominal CECT scan was performed 1.5 weeks later, showing a o2cm pancreatic nodule situated proximally in the left pancreatic limb close to the corpus. No signs of local or distant metastasis were noted. After 2 weeks, a partial pancreatectomy was performed through a left sided 3-portal laparoscopic flank approach in sternal recumbency. Upon inspection of the abdomen, the distal part of the left pancreatic limb was localized and freed from the surrounding omental attachments. The distal pancreatic limb was notably abnormal with firm consistency, hyperemic, and with dark pink color up until the tumor was noted in the proximal left pancreatic limb. Dissection of the distal pancreatic lobe from its omental attachments was complicated due to the relatively proximal tumor location and ample fat deposition in the omentum. Care was taken to dissect close to the pancreatic tissue to prevent trauma to splenic blood vessels and other structures in closer proximity of the pancreatic corpus. Increased traction on the lobe was necessary to reach and dissect the tumor, which was free from its surroundings. During dissection, an abnormal lymph node in close conjunction with the left pancreatic lobe was observed just proximal to the pancreatic tumor, suspected to be a metastatic splenic lymph node. This lymph node was excised en-bloc with the partial pancreatectomy of the affected limb. A biopsy of the liver was performed in an area, where some small pale-colored non-protruding lesions were visible. The size of the pancreatic excision was 8x2.5x1cm. Mild self-limiting intraoperative bleeding was noted from the pancreatectomy and liver biopsy site. During the procedure, glycemic levels rose from 3.1 mmol/L pre-operative to 5.8-7.8 mmol/L intraoperative after excision of the neoplasia. Total duration of the procedure was 99 min. During post-operative hospitalization in the intensive care unit glucose levels were hypo-to normoglycemic in between 3.8-4.8 mmol/L without adjuvant treatment of the hypoglycemia, except that the prednisolone therapy which the dog received prior to surgery was continued in a tapering dose scheme over the course of 2 weeks to be discontinued after this treatment schedule. During the hospital stay, the dog remained moderately painful in the abdomen initially and seemed nauseous intermittently. These symptoms were treated with add-on analgesics as described above and symptomatically with maropitant (1 mg/kg once daily IV), metoclopramide (1 mg/kg/day IV), and pantoprazole (1 mg/kg once daily IV), respectively. Appetite gradually recovered, and analgesia was tapered, and after 2.5 days of surgery, the dog was clinically stable and normoglycemic and was discharged from ICU. At home, treatment was briefly continued with oral analgesics, maropitant during 4 days, and the remaining tapering dose schedule of prednisolone. Histopathologic examination confirmed a o2cm invasively growing malignant proliferation (carcinoma) of the endocrine pancreas, excised with tumor-free margins. However, in the adjacent lymph node, multiple nests of comparable neoplastic cells were noted. The liver biopsy showed signs of steroid-induced hepatopathy, without any signs of metastasis. Additionally, tumor Ki67 index was determined to be 5.8. At a 3-week post-operative control visit, the dog was completely recovered from the surgery, had no clinical abnormalities, and was normoglycemic (7.2 mmol/L). Follow-up calls with the owners were performed until 564 days after surgery. The animal was still clinically well and remained normoglycemic, as checked routinely by the owners. As yet, survival time, without recurrence, is 599 days after diagnosis for this patient.",
"gender": "Female"
}
] |
PMC10800787
|
[
{
"age": 59,
"case_id": "PMC10912464_01",
"case_text": "A 59-year-old woman, weighing 63 kg with a height of 163 cm and a BMI of 23.7 kg/m2, presented with a 10-day history of right hip discomfort with clicking sounds. She had undergone THA following a right femoral neck fracture 10 years earlier. Ten days ago, she inadvertently strained her hip while working on her farm, leading to the onset of discomfort and clicking in her hip joint. This incident was characterized by restricted movement but was not accompanied by redness, swelling, or abnormal skin temperature. The sudden onset of pain and a snapping sensation in her hip, following the strain, were particularly noteworthy. Upon presentation, she was in pain and limping, but there was no significant deformity or tenderness in the right hip joint. Hip radiography ruled out aseptic loosening or infection, and her blood parameters, including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were within the normal range. Plain radiograph revealed significant ceramic flaking (Figure 1A), prompting the recommendation for right hip prosthesis revision. During surgery, a fractured femoral head and surrounding bone spurs were discovered after a \"T\"-shaped incision in the joint Subsequently, we conducted proactive surgical debridement, cleared the proliferative tissues, and removed the fragmented femoral head prosthesis (Figure 2A). During the revision, it was found that only the ceramic head was broken, with no loosening detected, leading to the decision to replace it with a new pink Aesculap ceramic head. After testing the new 28 mm ceramic head, it was inserted, and the tightness was satisfactory (Figure 2B). The patient has recovered well after the surgery. Follow-up x-rays confirmed well-positioned acetabular and femoral prostheses with normal anteversion and abduction angles, as well as proper fit and stability, resulting in a satisfactory surgical outcome (Figure 1B). The pain was well controlled at the 2-week follow-up, and she returned to her normal activities six weeks after surgery.",
"gender": "Female"
},
{
"age": 60,
"case_id": "PMC10912464_02",
"case_text": "A 60-year-old man, weighing 66 kg, with a height of 169 cm and a BMI of 23.1 kg/m2, presented with left hip pain lasting for 1 month. He had previously undergone THA following a left femoral neck fracture 5 years earlier. The pain in his left hip developed suddenly one month ago, without any clear cause. It was described as dull and intermittent, worsening with excessive activity and weather changes, but there was no joint swelling or redness. Since his retirement, his lifestyle had become more sedentary, with only limited outdoor activities. Upon presentation, he arrived at the hospital on crutches; his lower limbs were of equal length, and he had tenderness in the left inguinal region and over the greater trochanter. Plain radiographs showed many small ceramic fragments flaking around the hip joint (Figure 3A). Therefore, he was scheduled for revision of the left hip prosthesis. After opening the joint capsule through a lateral incision and removing it, we discovered a fractured ceramic liner in the acetabulum. The presence of a significant amount of black wear debris and turbid fluid accumulation in the surrounding area suggested a more chronic process than initially apparent (Figure 4A). Despite the patient's history indicating symptoms for only one month, the extent of debris accumulation raises the possibility that the underlying issue may have been present for a longer duration. Subsequently, we completely excised the joint capsule and the tissues stained black due to the ceramic wear debris (Figure 4B). We then dislocated the joint, removed the femoral head prosthesis, and cleaned the surrounding synovial tissues. Then we removed the original screw and yellow ceramic head. There were many traces of metal on the surface of the ceramic head due to prolonged friction with the metal cup (Figure 4C). Although the acetabular cup was firmly fixed to the bone, we faced a challenge as the yellow ceramic liner had been discontinued. Consequently, we had to remove the original yellow ceramic head and opted to use a polyethylene liner, affixed to the original acetabulum with bone cement, while replacing the head with a zirconia one. To facilitate the penetration of bone cement, we removed the screws from the original acetabulum. If the acetabular prosthesis had been loose, it would have been possible to remove it for revision. The acetabular side surface was then roughened with an electric drill to ensure better adhesion. After placing the cement on the polyethylene liner, we maintained pressure for 10 min until the cement dried. This step was crucial for the successful adhesion of the cement. The operation was completed successfully. Postoperatively, we conducted microbial cultures on the intraoperative samples (tissue and synovial fluid), which resulted in negative findings. Although the patient showed a slight increase in ESR and C-reactive protein levels after surgery, it is likely due to trauma and stress.\nAfter the revision surgery, the patient's left hip pain was significantly improved. Postoperative radiographs showed well-positioned acetabular and femoral prostheses with appropriate anteversion and abduction angles, and no signs of loosening. (Figure 3B). The patient had a satisfactory surgical outcome, was discharged on the fifth day, and received instructions on limb exercises, nutrition, and infection prevention. Pain resolved by the 3-week follow-up, and normal activities resumed six weeks post-surgery. The patient was readmitted two months later for congenital hip dysplasia and underwent right hip replacement surgery. Two months post-surgery, the patient had a good prognosis with no complications and satisfactory hip mobility. Long-term follow-ups showed excellent recovery, full hip motion without discomfort, improved daily function, and stable joint health without further interventions.",
"gender": "Male"
}
] |
PMC10912464
|
[
{
"age": 35,
"case_id": "PMC11135074_01",
"case_text": "The patient was a 35-year-old Chinese woman with initial symptoms of fluctuating left ptosis and slight dysarthria in mid-June 2023. Then she went to the local hospital for consultation and the chest computed tomography showed an anterior mediastinum mass. Based on the positive result of anti-AChR antibody (12.04 nmol/L, tested via radioimmunoassay, reference value <0.5 nmol/L), she was diagnosed as MG and initially treated with pyridostigmine (180 mg daily). Then she underwent thymectomy (histopathological diagnosis was thymoma, WHO B2 type) on June 30 and received adjuvant radiotherapy in the next 4 weeks. However, she gradually developed bilateral ptosis, diplopia, and weakness in swallowing, chewing, limbs, and neck from August 2023. Failed to be treated with pyridostigmine (360 mg daily) and prednisone (gradually increased from 15 to 35 mg daily), she was admitted to our hospital.\nThe patient was tested with a quantitative MG (QMG) score of 26 points and MG-specific activities of daily living scale (MG-ADL) score of 15 points (Myasthenia Gravis Foundation of America IVb, MGFA IVb) at admission. Her weakness of limbs and cervical muscle further worsened on the second day of hospitalization. She was promptly treated with IVIg (400 mg/kg daily, total 5 days), methylprednisolone (80 mg daily), and tacrolimus (3 mg daily), along with pyridostigmine (240 mg daily). No positive effects were observed, she developed dyspnea on 1 September, and she was treated with noninvasive ventilation (NIV). In addition, on 5 September, her bulbar symptoms further worsened, and she was unable to swallow, so a gastric tube was placed for feeding. The patient reached a 'worse' status after IVIg, methylprednisolone, as well as tacrolimus according to MGFA post-intervention status (MGFA-PIS). After communication, she was then treated with initial efgartigimod (400 mg weekly, total 4 weeks) on 7 September (QMG score was 27 points, and MG-ADL score was 19 points). Four days later, the weakness of swallowing and ptosis were first to improve, and she achieved clinically meaningful improvement (defined as MG-ADL score reduction of >=2 points): MG-ADL reduced to 16 points. Symptoms improved further, and the MG-ADL score for the part of the limbs was reduced to 0 points on 24 September (18 days after initial treatment). She reached a mild subjective clinical manifestation with an MG-ADL score of 3 points from 29 September to 19 October, but her QMG score still fluctuated between 13 and 14 points. Her symptoms slightly worsened again on 20 October (MG-ADL score was 6 points and QMG score was 14 points). Importantly, though she was not treated with another cycle of efgartigimod, her MG-ADL score was stable from 4 to 6 points with prednisone (30 mg daily), tacrolimus (3 mg daily), and pyridostigmine (180 mg daily) after 3 months of initial efgartigimod. The treatment regimens after admission to our hospital and the changes in QMG score, MG-ADL score, and MG-ADL score in different muscle groups were presented in Figure 1.\nThe changes of laboratory examinations including total T cells (defined as CD45 + CD3+ cells), CD4+ T cells (defined as CD45 + CD3 + CD4+ cells), CD8+ T cells (defined as CD45 + CD3 + CD8+ cells), regulatory T cells (Treg) (defined as CD45 + CD3 + CD4 + CD25 + CD127 low cells), CD19+ B cells (defined as CD45 + CD3 - CD19+ cells), memory B cells (defined as CD45 + CD19 + CD27 + CD38- cells), plasmablasts (defined as CD45 + CD19 + CD27 + CD38+ cells), plasma cells (defined as CD45 + CD19 + CD27 + CD38 + CD138+ cells), and serum IgG, IgA, and IgM were summarized in Figures 1(c) and 2. Frequency of T-cell and B-cell subsets was measured by flow cytometry, and serum concentrations of IgG, IgA, and IgM were measured by immunonephelometry. The patient's level of IgG decreased rapidly after being treated with efgartigimod in the first 3 weeks and increased again after the seventh week, which was correlated with the severity of the disease [Figure 1(c)]. Remarkably, we detected a gradual decrease in the total T cells and CD4+ T cells from the second week [Figure 2(a) and (b)]. Besides, the frequency of Treg cells increased in the initial period of rapid improvement, and then decreased with symptoms rebounding, while Treg cells increased again on 6 December [Figure 2(d)]. Gradual decrease of CD19+ B cells from the first week after being treated with efgartigimod was detected in this patient, while CD19+ B cells increased 69 days after the last injection [Figure 2(e)]. Frequency of plasma cells, plasmablasts, and memory B cells fluctuated throughout the course, but on 1 November and 6 December, plasma cells and plasmablasts were still significantly lower than baseline [Figure 2(f)-(h)].",
"gender": "Female"
}
] |
PMC11135074
|
[
{
"age": 20,
"case_id": "PMC11095181_01",
"case_text": "A 20-year-old male, with no known history of allergies, presented with symptoms initiating approximately 3 months before hospital admission. Clinical manifestations included persistent high fever and the development of dark red, oval-shaped, firm skin plaques, ranging from 4 to 8 cm in diameter, on the chest, back, and waist. Initial treatment comprised 32 mg/day of Medrol and topical Tacrolimus, leading to the resolution of fever and decreased skin inflammation. The patient was discharged with ongoing topical therapy. However, 3 weeks preceding the current hospitalization, he experienced a continuous fever between 38 C to 39 C, alongside the emergence of dark brown pigmented patches on the chest, abdomen, waist, lower leg, which were tender but not indurated (Figure 1). Concurrent ankle pain exacerbated by movement was also reported. Subsequent admission to hospital was for further evaluation and management. Notable test results were presented in Table 1.\nThe patient was diagnosed with HLH and acute liver failure, warranting close monitoring for systemic disease, not excluding malignancies such as SPTCL and HLH. The treatment regimen included pulse therapy with methylprednisolone at 1 g/day and cyclosporin at 6 mg/kg/day, supplemented with oxygen therapy, granulocyte-stimulating agents, correction of coagulation abnormalities, prophylaxis against bleeding, and hepatoprotective measures.\nDespite initial treatment, the patient's condition deteriorated, marked by progressive respiratory failure. This necessitated 2 plasma exchange sessions, IVIG transfusion, escalation of antibiotic therapy, and continued administration of solumedrol at 80 mg/day and cyclosporin at 6 mg/kg/day, along with high-flow nasal cannula oxygen support. A subsequent skin biopsy, the second of its kind, led to a definitive diagnosis of SPTCL. Histological examination revealed a normal epidermis and dermis, but with extensive infiltration of atypical lymphocytes in the subcutaneous fat layer, clustering around adipocytes, displaying hyperchromatic and irregularly bordered nuclei of small to medium size (Figure 2). Immunohistochemical staining showed positivity for CD3, a high proliferation index with Ki-67 (+, 50%), and positivity for CD8, with negativity for CD20, CD4, and CD56 (Figure 3). In light of the poor response to treatment, the patient's clinical course worsened, culminating in his demise.\nSubcutaneous panniculitis-like T-cell lymphoma is a distinct type of T-cell lymphoma, first identified in a series of 8 cases in 1991. It was not until 2001 that the WHO officially recognized it as a unique entity. Subcutaneous panniculitis-like T-cell lymphoma predominantly affects individuals in their late thirties, with the median age at diagnosis being 39 years WHO Reclassification and Phenotypic Distinctions. Subcutaneous panniculitis-like T-cell lymphoma was initially divided into 2 phenotypes, a classification that the WHO has since revised. World Health Organization's reclassification now identifies 2 distinct phenotypes of SPTCL based on TCR expression. The alpha/beta T-cell phenotype, characterized by CD8+, CD4-, and CD56- expression, is commonly associated with SPTCL and tends to have a favorable prognosis, often responding well to immunosuppressive therapy. In contrast, the phenotype known as PCGD-TCL, marked by CD4-, CD8-, and CD56+ expression, is generally linked to a poorer prognosis. Both phenotypes are characterized by the expression of granzyme B, perforin, and TIA1.\nSubcutaneous panniculitis-like T-cell lymphoma, a rare form of skin lymphoma, predominantly affects young adults, typically presenting between the ages of 30 and 40 years. This disease shows a slight female predominance and accounts for less than 1% of all non-Hodgkin lymphoma cases. Patients with SPTCL usually exhibit multiple, painless subcutaneous plaques or nodules, primarily located on the trunk and extremities. Some of these nodules may spontaneously regress, while others may appear at different sites. Common systemic symptoms include fevers, chills, night sweats, weight loss, and myalgias. The differential diagnosis for SPTCL is broad and includes various skin conditions such as eczema, psoriasis, dermatitis, cellulitis, and LEP. In addition, a notable percentage of SPTCL patients, up to 20%, may present with coexisting autoimmune diseases, including systemic lupus erythematosus (LE).\nHistopathologically, SPTCL is identified by a dense infiltration of lymphocytes and histiocytes into subcutaneous fat tissue, often arranged in a lobular pattern with fat necrosis. The atypical lymphocytes exhibit irregular hyperchromatic nuclei, and a defining feature is the rimming of individual fat spaces by neoplastic lymphocytes. Immunohistochemically, the presence of predominantly CD8+ T-lymphocytes, along with the absence of septal fibrosis, B-cell follicles, and plasma cells, helps distinguish SPTCL from conditions like LEP. \nWe conducted additional immunohistochemical tests to supplement the histopathological diagnosis of this case, particularly for differential diagnosis, especially distinguishing it from Primary Cutaneous Gamma-Delta T-cell Lymphoma (PCGD-TCL). In SPTCL, the expression of CD3 (+), CD8 (+), CD4 (-), CD56 (-), with strong expression of cytotoxic proteins: Granzyme B, TIA-1, and perforin (secreted by tumor cells) and Alpha/beta TCR (+), Gamma TCR (-), and high Ki67. The immunohistochemical results are consistent with SPTCL, showing positive expression in tumor cells for CD3, CD8, negative for CD4 and CD56, and high Ki67 about 50%.",
"gender": "Male"
}
] |
PMC11095181
|
[
{
"age": 29,
"case_id": "PMC10866183_01",
"case_text": "We present the case of a 29-year-old patient with a complex history and a challenging diagnostic and therapeutic journey. The symptoms began at the age of 11 years with paresthesias in the phalanges of the feet, which resolved spontaneously or with the use of medication. Over the years his symptoms progressed to low back pain with radiation and hypoesthesia in the left lower limb, together with recurrent episodes of intense paresthesias in the popliteal fossa (aggravated by physical activity), dizziness, tinnitus and abnormalities in gait and proprioception. The patient reported that he occasionally couldn't \"feel\" his left lower limb, which was the cause of subsequent falls. Six months before the first medical consultation, constipation and left lower extremity weakness were added. He underwent a series of magnetic resonance imaging (MRI) scans at a community hospital, which revealed an intradural lesion extending from L1 to L4 (lumbar spinal level). The patient was referred to the \"Manuel Velasco Suarez\" National Institute of Neurology and Neurosurgery, as the lesion was suspected to be of oncological origin. The delay in diagnosis from symptom onset was due to late referral because the patient resided in a rural area with limited access to medical services.\nOn admission to our hospital, a neurological examination was performed which showed intact cranial nerves, reduced muscle strength in both lower limbs (3/5 score on the Daniels scale), hyperreflexia (+++) in the left lower limb, together with paresthesias in the left foot, reduced vibratory sensation in the left lower limb (at L1-L4 dermatome levels), and localized pain in the paravertebral and left iliotibial band regions. The neurological examination was otherwise normal and sphincter control was not impaired. The anal tonus was normal and urinary incontinence was not present. Routine laboratory examinations were in the normal range. Somatosensory evoked potentials revealed severe bilateral dysfunction of the proprioceptive pathways of both lower limbs, resulting in an absolute conduction block at the level of the thoracolumbar segment of the gracilis fasciculus. On examination, there was no gross evidence of cutaneous abnormalities, dermal sinus tracts, or a history of spinal dysraphism. No palpable midline spinal defects were appreciated. He denied any previous lumbar surgeries or lumbar puncture. Imaging evaluation showed a tumor with well-defined borders, heterogeneous composition, with a ventral hyperintense zone that modified the morphology of the L1-L4 vertebral bodies (Figure 1). Contrasted imaging studies could not be performed because the patient was allergic to gadolinium.\nBased on the clinical presentation and imaging findings, a preliminary diagnosis of probable medullary meningioma at the L1-L4 levels of the spine was made. The patient underwent fluoroscopy-guided surgery with intraoperative neuromonitoring in January 2017; the procedure consisted of bilateral L2-L4 laminotomy followed by microsurgical resection of the intradural lesion and laminoplasty. Intraoperatively, a firm, yellowish nodule measuring 1.2 x 1.1 x 0.7 cm was identified as adherent to bony fragments. Gross excision of the intramedullary lesion was achieved, including total removal of the tumor capsule. Dissection of the solid mass component revealed its extension into the intramedullary region. The lumbar lesion was sent for neuropathological examination which revealed a mature teratoma as the final diagnosis (Figure 2). The observed tissues comprised mature squamous epithelium, adnexal glandular tissue, adipose tissue, peripheral nerve tissue, and glial tissue. Furthermore, no immature elements were identified.\nThe clinical follow-up was carried out every three months during the first year and every six months after the second year of surgery. Likewise, radiological controls of the lesion were carried out. Postoperative MRI determined total resection of the tumor mass, with the presence of cerebrospinal fluid at the site of the teratoma, as well as displacement of the cauda equina (Figure 3).\nThe patient underwent physical rehabilitation therapy and progressively his clinical condition enhanced. In the most recent physical examination, the patient had a strength of 4/5 on the Daniels scale in both lower extremities, which the patient and his caregiver referred to as a substantial improvement. Cranial nerve assessment and neurological examination of the rest of the body segments remained without deficits. Although proprioception has improved, he continues to have some deficits in gait coordination. Similarly, paresthesias partially disappeared. Currently, five years after surgery, the patient has a functional state that allows him to perform most of his activities.\nMaterials and methods\nWe performed a systematic review using the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guide of intramedullary lumbar tumors with the histopathological diagnosis of mature teratoma. Our eligibility criteria were included if they primarily or in part show information on a case report or case series of intramedullary lumbar teratoma in adults. We excluded articles whose full text is not in English, and articles not found. Search strategy In the PubMed search engine consisted of the item (teratoma) AND ((spinal cord) OR (spinal)) AND (adult) AND (intramedullary). The database coverage was established from 1966 to 2023. In the Google Scholar search engine, the search was done by requesting articles with the terms \"spinal cord\", \"teratoma\", \"mature\", \"adult\", \"intramedullary\", \"lumbar\", somewhere in the report. Primarily 69 results were obtained from the PubMed search and 141 results from Google Scholar. Repeated results within the searches were later eliminated (52 records). The results were arranged by relevance according to the search engine. The abstract of the results in both searches was read by four reviewers independently. The abstracts were carefully read by reading the title and abstract. Cases in which no information could be gathered (because of language barriers or missing data) were excluded. Extramedullary, immature, cervical, or sacrococcygeal teratomas, dermoid cysts, and pediatric-onset teratomas were excluded from the analyses. All articles were evaluated to assess relevance for this review. After the initial screening, they carefully read the complete abstracts and assessed the entire articles, considering only the most relevant according to their suitability and appropriateness for this review. Articles selected by all five researchers independently in consensus were directly included in the primary analysis. Subsequently, the investigators reached a final agreement on the selected articles to write a discussion focusing on the epidemiological, clinical, diagnostic, surgical, and prognostic aspects of this pathology (Figure 4).\nLikewise, a table was made with the reports and series of cases of teratomas (a total of 16 articles and 18 patients) that met these characteristics and that were published in the present century (Table 1).",
"gender": "Male"
}
] |
PMC10866183
|
[
{
"age": 44,
"case_id": "PMC11108691_01",
"case_text": "We present the case of a 44-year-old female with no relevant medical history, admitted due to pelvic pain associated with elevated creatinine and azotemia. The patient had undergone legally liquid silicone biopolymer injections in the gluteal region approximately 20 years ago for aesthetic purposes. Years later, she developed nonspecific symptoms, including fatigue, general discomfort, intermittent myalgias, sporadic insomnia, and chronic pelvic pain. These symptoms partially responded to conventional medical management (NSAIDs). Notably, there were no records of nephropathy before this event.\nOn admission, the patient was stable, and the physical examination revealed pelvic tenderness with firm, whitish/yellowish papules, plaques, and palpable multiple nodular lesions in the hypogastric, pelvic, gluteal, inguinal, and sacral regions, without local infectious changes. Some nodules restrict joint mobility and limit movement due to stiffening of the skin. Laboratory tests (Table 1) revealed elevated creatinine, hypercalcemia, and urinalysis indicating pyuria and proteinuria.\nInitial nephropathy management included optimal fluid therapy, discontinuation of nephrotoxic agents (NSAIDs), and a urotomography (Figures 1(a)-1(c)), which described severe thickening of soft tissues in the bilateral lumbar and gluteal regions with calcifications, pelvic retroperitoneal calcifications, and atrophic left kidney with calcifications. The right kidney showed normal size with intraparenchymal and calyceal calcifications consistent with nephrocalcinosis, without masses or dilation of collecting cavities. With no clear diagnosis, further studies were conducted. A renal artery Doppler confirmed bilateral nephrocalcinosis, a normal right renal artery, and changes in the left kidney secondary to unspecified hypoplasia without thrombosis. Autoimmune profile revealed positive antinuclear antibodies (ANA) with a speckled pattern 1 : 160, negative anti-neutrophil cytoplasmic antibodies (ANCAs), and normal complement levels. Infectious profile (HIV, HBV, HCV) was negative, and additional metabolic profile showed suppressed PTH, elevated 25-hydroxyvitamin D, and normal 1,25-dihydroxyvitamin D. Plasma cell involvement was ruled out through serum immunoelectrophoresis, and long bone X-rays showed no lesions (Table 2).\nGiven the persistent hypercalcemia, suppressed PTH, and bilateral nephrocalcinosis, the patient was diagnosed with chronic kidney disease and cutaneous calcinosis as sequelae of ASIA. It was decided to initiate treatment with prednisone at 0.5 mg/kg/day, showing a slight decrease in calcium levels but no significant changes in creatinine or azotemia. During the hospital stay, her clinical course was favorable, so she was discharged for further outpatient follow-up.",
"gender": "Female"
}
] |
PMC11108691
|
[
{
"age": 40,
"case_id": "PMC10949923_01",
"case_text": "Case 1, a 40-year-old female, was approximately 9 months pregnant when diagnosed with SLE and SS in 2013 and reported experiencing symptoms since at least 2010. She was taking hydroxychloroquine for management of SLE and SS and aspirin to reduce risk of blood clot and miscarriage. She experienced extreme photosensitivity, fatigue, and pain in the legs that required her to spend much of the day lying down. She also experienced extreme dry skin, including cracks that would not heal, dry eye, and dry mouth. Other symptoms included stomach cramping, diarrhea, and severe pelvic pain. Interested in natural treatments, she contacted the author (BG) in April 2017 and immediately began her 4-week, one-on-one RRP to which she reports being 100% adherent. She notes that while she did consult with her rheumatologist prior to beginning the RRP, she did not consult with her obstetrician because, in her words \"I was desperate to get healthy and scared of a flare-up after delivery, which is what happened with my first pregnancy.\" She consumed one 64 oz. green smoothie daily, composed predominately of raw leafy greens such as kale or spinach, water, and fruit added for flavor. She also incorporated flaxseed, first starting with 1/2 cup and working her way to a full cup. Her other meals throughout the day included foods such as salads and raw vegetables, in addition to drinking a gallon of water. The only non-raw food that she consumed was Ezekiel bread, a sprouted whole grain bread, at the recommendation of the author, which is not typically included with the recovery protocol but was allowed due to increased hunger during pregnancy.\nTwo days into the RRP, she reported that her pelvic pain had stopped. Most other symptoms completely resolved over the 4 weeks, including the dryness, pain, and fatigue. The cracks in her skin were actively healing, and completely resolved within 3 months of beginning the RRP. She remained active during pregnancy, gave birth to a healthy child, recovered quickly from her C-section, and continued with no pain and increased energy post-birth.\nTwo months after completing the RRP she went outside for the first time and experienced no photosensitivity. By approximately 6 months after completing the RRP, she had discontinued both hydroxychloroquine and aspirin. Post RRP, her lab results showed a decrease in SS-B, a marker antibody for SS, as well as a decrease in partial thromboplastin time (PTT), for which a prolonged PTT (>40) may suggest SLE (Table 2). She transitioned to a maintenance diet, still including no processed foods, 40 oz. per day of green smoothie, a gallon of water, and approximately 90% raw, whole plant foods during the day with a cooked plant-based meal for dinner. As of last contact (December 2023), she remained off all medications, had an additional healthy pregnancy and delivery in 2020, and reported no recurrence of symptoms. She reports feeling that the protocol \"was such an easy fix for my illnesses.\" Please see Figure 1 for a timeline of symptoms and treatment. The Supplementary File includes a personal testimony from the case.",
"gender": "Female"
},
{
"age": 54,
"case_id": "PMC10949923_02",
"case_text": "Case 2, a 54-year-old female, experienced photosensitivity, butterfly rash, itchy scalp, and constant fatigue since approximately 2006. In subsequent years, she was in and out of the hospital with pleurisy, as well as joint stiffness in the fingers, elbows, and knees. She experienced severe dry mouth, which interfered with eating, as well as severe dry eye that began around May 2015. She had been diagnosed with SLE based on bloodwork on July 5, 2015 and was prescribed hydroxychloroquine which she reports did not improve symptoms. Months later, she was diagnosed with SS. In February 2016, she saw a neurologist due to neuropathy (fingers, arm) who recommended she reach out to the author (BG) which she did on February 14, 2016.\nCase 2 read the author's book (BG) detailing the recovery protocol and eliminated all meats, sugars, processed foods, and added oils except for cold pressed flaxseed oil from her diet and began to incorporate more greens. She had an initial consultation with the author (BG) about 2 weeks later and further refined her diet to incorporate a higher amount of greens, such as kale and spinach, which she estimates at approximately 11 cups per day (range 2.5-16), as well as raw fruits and omega 3 (chia seeds/flaxseed oil). She enrolled in the 4-week RRP and, after further consultation, her diet included two 32 oz. green smoothies per day, a salad at lunch, and dinner consisting of foods such as kale, cabbage, and Brussels sprouts.\nHer symptoms, including neuropathy, joint stiffness, pain, fatigue, itchy scalp, and photosensitivity, resolved within 14 days, and dry eye improved over several months. After 6 months, her ophthalmologist confirmed in an exam that she no longer had any visible eye inflammation and showed no physical symptoms of dry eye. Her anti-double stranded DNA (anti-dsDNA) test results, for which higher numbers suggest higher presence of SLE antibodies, decreased from 20 IU/mL in January 2016 to 16 IU/mL in January 2017. Although 16 is still above normal, it should be noted that dsDNA can remain positive even when clinical symptoms are not present.\nShe maintained the diet as prescribed by the author (BG) for a year, at which point she started to replace one salad with a cooked plant-based meal, still eliminating all processed foods. She discontinued hydroxychloroquine in January 2017. She reports eating a vegan cake at her wedding made with processed sugar and experiencing joint stiffness after. However, when she went on a cruise and ate unprocessed, whole plant-based foods, she did not experience any symptom flare-ups. After approximately 2 years, she significantly reduced the amount of omega 3 consumed but has not experienced any flares in symptoms or changes in blood work. As of last contact in July 2023, she remains symptom free and continues to eat a whole-food, plant-based diet that incorporates both daily green smoothies as well as cooked foods. She stated \"I am doing so well....I'm convinced that it [the recovery protocol] saved my life.\" Please see Figure 2 for a timeline of symptoms and treatment. The Supplementary File includes a personal testimony from the case.",
"gender": "Female"
},
{
"age": 45,
"case_id": "PMC10949923_03",
"case_text": "Case 3, a 45-year-old female, reports that from approximately 2003-2008, she often felt sick and achy with flu-like symptoms, migraines, intermittent dizziness, weakness, and increased feelings of dry mouth. She reports having visited her primary care physician (PCP) on multiple occasions, who was unable to determine a cause of her symptoms, although she was never tested for autoimmune disease. In 2008, after the birth of her fourth child, she was referred to a rheumatologist who was also unable to determine a diagnosis. She continued seeing her PCP for her symptoms until he later, still unable to diagnose her, referred her to a psychiatrist. At this time, blood work detected anticardiolipin antibodies, which remained present for the next 7-10 years. Her child was then diagnosed with neonatal lupus at around 10 weeks old. This prompted testing of Case 3 and a subsequent diagnosis of SS based on the presence of antibodies (anti-SS-A and anti-SS-B) and dry eye symptoms. Antinuclear antibodies (ANA) were also detected; however, SLE was not officially diagnosed due to lack of typical clinical symptoms. Of note, the child no longer tested positive for antibodies after around 1 year of age and currently remains antibody free at 15 years of age. Around 2010, Case 3 began taking levothyroxine (100 mg/day) as she was found to have high antibodies for Hashimoto's disease, and her parents both had experienced thyroid disease. She was also prescribed an immunosuppressant (azathioprine) in 2010 that did not improve symptoms and she eventually stopped, and was then prescribed methotrexate. In 2012, she began hydroxychloroquine which did help to manage symptoms.\nFor the next decade, she continued to experience the symptoms previously described. Around 2014, she sought care with a rheumatologist and was diagnosed with a 'non-specific' autoimmune condition because she did not have typical SLE symptoms. In 2017, she was officially diagnosed with SLE based on the presence of antibodies and increasing symptoms such as constantly feeling sick and revolving nerve pain in 6-8 inch wide areas of her skin.\nIn September 2020, due to extreme stress related to Covid-19, her symptoms exacerbated significantly, including extreme fatigue, pain, a migraine that lasted for 4 months, a diagnosis of hyponatremia with hospitalization, and extreme light sensitivity and eye pain, described as varying from a feeling of \"someone squeezing my eyes\" to a feeling of grittiness or sand in the eyes that prevented her from being able to open both eyes at the same time. Please see Figure 3 for detailed timeline of symptoms and treatment.\nShe reports having followed a keto diet 'off and on' from 2007 to 2020 but had not experienced any improvements in symptoms. After the extreme exacerbation of symptoms in 2020, she read the author's (BG) book detailing the recovery protocol and started to follow a plant-based diet with no animal products, specifically incorporating spinach (approximately 10 oz./day) but not restricting sugar. She noticed small improvements in symptoms. She began working with the author (BG) in February 2021, at which point it was emphasized that she needed to greatly increase intake of greens and cruciferous vegetables and eliminate added sugar. Initially, although \"not super strict\" about adhering to the plan outlined by the author (BG), she saw fatigue and energy improve in just 2 weeks, migraines improved in about 1 month, and dizziness subsided later. At this time (2021), her physician also prescribed carbamazepine to help with trigeminal neuralgia. When she was diagnosed with Covid-19 in 2021, her doctor suggested temporarily stopping methotrexate, and she never restarted as symptoms were significantly improving.\nIn June 2021, motivated to further improve symptoms, she completed the author's (BG) 6-week RRP. Within 3 weeks of strict adherence to the RRP, her migraines and revolving pain on her skin resolved, and her dry mouth and dry eye significantly improved and continued to improve with continued adherence to the protocol. Her recovery diet was comprised predominately of large salads, and she estimates that she consumed approximately 1.5-2 lbs. of raw, cruciferous vegetables and/or spinach, approximately 1 pound of other vegetables, microgreens, 6 tbsp of flaxseed oil and, initially, approximately 128 ounces of water per day. In November 2022, she was diagnosed with hyponatremia by her regular physician, although was not hospitalized as she was in 2020. It should be noted that her endocrinologist previously diagnosed her with a pituitary tumor that may be contributing to syndrome of inappropriate antidiuretic hormone secretion (SIADH), thus resulting in hyponatremia. Under the care of her medical team, she slowly reduced her water intake to 96 oz. and, finally, 60-80 oz.\nThe key laboratory results of interest to her physician post-recovery were complement protein 3 (C3), complement protein 4 (C4), white blood cell count, red blood cell count, and ANA (Table 3). While ANA remained positive pre- and post-recovery, C3, C4, and white blood cell counts improved, moving into normal ranges. A few months after symptoms resolved, she tried to introduce additional plant-based foods such as beans, more fruit, and almond flour into her diet but reports not feeling as well and returning back to strict adherence to the recovery protocol. After 8-12 months adhering to the protocol and eating mostly raw foods, all symptoms had resolved. She has felt symptom free since early spring 2022.\nAs of last contact (December 2023), she has remained adherent to a predominately raw, plant-based diet with no processed foods, incorporating a small amount of cooked vegetables (approximately 6% of her diet), some fruit and beans, and consuming 2 tbsp/day of cold pressed flaxseed oil or chia seed oil. She is currently on hydroxychloroquine, levothyroxine, and carbamazepine, although her doses of the latter two have been decreased since beginning the recovery protocol. She remains under the care of her medical team, monitoring for hyponatremia, and currently consumes no more than 25-35 oz. of water daily. She reports feeling healthy, being active, and having dramatically improved quality of life.\nPlease see Figure 3 for a summary of initial symptoms and resolution across all three cases. The Supplementary File includes a personal testimony from the case. Please see Table 4 for a summary of improvement in symptoms for all 3 cases following the recovery diet.",
"gender": "Female"
}
] |
PMC10949923
|
[
{
"age": null,
"case_id": "PMC10626754_01",
"case_text": "A child was brought to a rural tertiary center after being shot in the chest with an improvised gun with marble as a bullet. He appeared to be awake, not in respiratory distress, and had stable vital signs. On evaluation, the patient had a single gunshot wound approximately 2x2 cm in size on the posterior chest at the right paravertebral area of the fourth thoracic vertebra. There was no exit wound noted. Auscultation revealed a slight decrease in breath sounds at the right upper lung field. Initial chest radiograph was done revealing a round radiopaque material which was thought to be a foreign body (marble) at the right upper lung, with fracture of the fourth posterior rib (figure 1). There was no hemothorax or pneumothorax noted.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10626754_02",
"case_text": "The patient was admitted and a repeat chest radiograph was taken after 6 hours (figure 2). A developing pulmonary contusion surrounding the foreign body was noted. The patient was stable enough to permit chest CT evaluation. It showed a rounded radiopaque foreign body in the right upper lung field, with gunshot fracture involving the posterior aspect of the fourth rib. There was also pulmonary contusion on the right upper lobe and a fluid density at the right posterior pleural space attributed to a hemothorax (figure 3).",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC10626754_03",
"case_text": "The case was referred to a thoracic surgeon consultant. On review of the chest CT scan, it appeared that a fragment of the fourth rib was piercing through the upper lobe of the right lung. Surgery was advised and the patient was scheduled for thoracotomy, removal of foreign body, and debridement.\nDuring the operation, a right posterolateral approach was made. The foreign body was identified and removed. Rib fragments were also removed and hemothorax was drained. Repair of the lung injury was done (figure 4). The surrounding organs were inspected but no injuries were reported. A chest tube was left in place prior to closure. He was extubated postoperatively and transferred to the postanesthesia care unit and had an unremarkable stay.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10626754_04",
"case_text": "On postoperative day 1 (POD 1), full diet was resumed. The patient was started on incentive spirometry and chest tube output was monitored daily (figure 5). A postoperative chest radiograph was taken noting a full expansion of the lung, without pneumohemothorax and with the chest tube in place. On POD 4, there was absence of chest tube output. A repeat chest radiograph showed clear and fully expanded lung (figure 6). After 24 hours of observation, the chest tube was removed. He was discharged on the seventh POD. At the time of discharge, he had full functional capacity, without oxygen support or any assistive device.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10626754_05",
"case_text": "One week after discharge, the patient reported no difficulty of breathing or chest pain. Repeat radiograph showed a normal study (figure 7). He was already doing mild to moderate strenuous activities without developing dyspnea. He was able to return to school without any limitations.",
"gender": "Male"
}
] |
PMC10626754
|
[
{
"age": 61,
"case_id": "PMC10517602_01",
"case_text": "We present the case of a 61-year-old male who presented with a 3 cm macule on his right ear that had been evolving for 3 months. The patient did not report any significant medical history and had no symptoms other than mild pain on palpation. Initial physical examination revealed a solitary, pinkish-red, non-blanchable lesion with indistinct borders. No regional lymphadenopathy was noted. The patient was referred to a dermatologist for further evaluation. The dermatologist conducted a thorough clinical examination and considered various differential diagnoses, including an infectious or inflammatory process, as well as neoplastic conditions such as basal cell carcinoma and melanoma. The lesion was excised, and histopathological analysis revealed dense dermal infiltrates of medium-sized atypical lymphoid cells with small nucleoli. Mitotic figures were sparse (1-2 mitoses/10 HPF). There was no angiocentric and angiodestructive growth pattern. There was no epidermotropism. The epidermis was separated from the infiltrate by a grenz zone (Figure 1). Immunohistochemical staining showed a predominance of CD8+ T-cells, consistent with a diagnosis of primary cutaneous CD8+ ATCLPD of the ear. Tumor cells were negative for CD4, TdT, CD20, CD30, CD10, Bcl6, CD56, Granzyme B, and perforin. CD68 was focally positive with dot-like perinuclear staining. The Ki67 expression was low <5% (Figure 2). Chromogenic in situ hybridization was used to test for Epstein-Barr virus (EBV) using the EBER probe and revealed negative. Further evaluation with a computed tomography scan of the chest, abdomen, and pelvis was performed, and no evidence of systemic involvement was found. The patient is doing well after 2 years of follow-up, with no signs of disease recurrence or progression on extra-cutaneous sites.",
"gender": "Male"
}
] |
PMC10517602
|
[
{
"age": 30,
"case_id": "PMC10625821_01",
"case_text": "The patient was a 30-year-old Chinese woman who presented with a 6-year history of painless swelling in the left submandibular region. During the last 3 months, the lesion began to expand down to the root of the neck.\nPhysical examination revealed an approximately 12 cm x 6 cm mass in the left anterior cervical region without any evidence of swelling in the floor of the mouth. It exhibited a cystic lesion without tenderness. By color Doppler ultrasound, there was a well-defined anechoic loculated fluid collection in the left superficial anterior cervical region, from the edge of the mandibular angle to the suprasternal fossa, whose size was approximately 10.98 cm x 1.49 cm x 4.92 cm (Fig. 1). There was poor internal sound transmission and visible soft tissue separation in the irregularly shaped mass without obvious blood flow signal in color-flow Doppler imaging. This examination indicated a potential diagnosis of the left plunging ranula, while lymphatic malformation needed to be excluded. In addition, the extent of the lesion was confirmed by contrast-enhanced computed tomography (CT) (Fig. 2). After fine-needle aspiration was performed in the clinic, the egg white-like liquid discharge was found. Taken together, all the evidence confirmed the typical report of ranula.\nVia a transoral approach, the surgery was performed under general anesthesia for this patient. The procedure included complete excision of the enlarged left sublingual gland and aspiration of the mucus. Then, blunt dissection was performed toward the anterior margin of the submandibular gland, and no significant cystic fluid was observed. The left submandibular region was compressed for 3 days. Histopathological examination of the specimen after surgery revealed dilated ducts and the mucous pool due to partial rupture of the acinar and mucous overflow (Fig. 3). One week after surgery, the patient came back to the clinic for further consultation because of the swelling in the left anterior cervical region, which was almost the same size as before the surgery (Fig. 4). And 15 mL of light, red clear fluid, instead of mucus, was extracted from the carotid triangle of the left neck. The patient declared that the swelling gradually recovered on its own without any intervention. No signs of recurrence were discovered after a 6-month follow-up.",
"gender": "Female"
}
] |
PMC10625821
|
[
{
"age": 51,
"case_id": "PMC10698652_01",
"case_text": "A 51-year-old woman with anemia and rib fractures was diagnosed with IgG-k MM in 2012. Serum monoclonal component was 6.3 g/dl and Bence Jones proteinuria was 2.3 g/24 h. Cytogenetic analysis showed amplification of 1q21 and, according to the International Staging System (ISS) and Revised-ISS, the disease was classified as stage I and I, respectively.\nAfter enrollment in the EMN02 trial, the patient received 4 induction cycles with bortezomib, cyclophosphamide and dexamethasone, followed by tandem autologous stem cell transplantation and 2 consolidation cycles with bortezomib, lenalidomide and dexamethasone. Complete remission was achieved at the end of consolidation, and she started maintenance therapy with lenalidomide, according to clinical trial. Unexpectedly, in 2020 she experienced clinical relapse. Subsequent treatment consisted of 8 cycles of induction therapy with carfilzomib, pomalidomide and dexamethasone followed by maintenance with pomalidomide within the EMN11 trial, leading to partial remission. After a few months, the patient experienced biochemical relapse and third line therapy with daratumumab, lenalidomide and dexamethasone was started. Due to refractoriness to third-line therapy, the patient was enrolled in the CARTITUDE-4 trial and randomized to receive CAR T-cell therapy in December 2021. On third day post-infusion, grade 2 cytokine release syndrome developed and resolved with tocilizumab and steroids. Minimal residual disease (MRD) negativity has been achieved 6 months after infusion.\nIn July 2022 the patient contracted SARS-CoV-2 infection presenting with dry cough and low-grade fever. She had been previously vaccinated against SARS-CoV-2 with two doses of the mRNA vaccine BNT162b2, with no serological response, before undergoing CAR T-cell therapy and received a third boost in March 2022. Despite antiviral therapy with molnupiravir, cough worsened, and bilateral interstitial pneumonia was detected by CT scan (Fig. 1) on admission to hospital. Blood tests showed lymphopenia (800 cells/microl), hypogammaglobulinemia (200 mg/dl) and high levels of inflammatory markers (CRP 38,000 microgr/l and IL-6 38 pg/ml). Remdesivir and tixagevimab-cilgavimab did not improve her clinical condition which was exacerbated by pulmonary embolism and required high-flow oxygen therapy. Viral genotyping revealed non BA.2 omicron variant, viremia resulted positive and antinucleocapsid antibodies were not identified. Analysis of lymphocyte subpopulation displayed B-cell aplasia (10 cells/microl), CD4+ T cells (200 cells/microl) and NK cells (37 cells/microl) deficiency. Eventually, hyper immune plasma was infused obtaining gradual resolution of opacities and improvement of respiratory failure. Soon after pulmonary aspergillosis superimposed and resolved with a two-month course of isavuconazole. Intravenous immunoglobulin G therapy (IVIG) at a dosage of 400 mg/kg has been administered weekly during antifungal treatment in order to reach normal IgG levels (>= 700 mg/dl). In December 2022 SARS-CoV-2 clearance was achieved and the patient was discharged after a five-month hospitalization.\nThus far, the patient is still in complete remission, with bone marrow MRD negativity, more than one year after CAR-T infusion. After the resolution of infectious events, the patient received IVIG every three weeks until April 2023. She is currently receiving only antiviral prophylaxis for Varicella-Zoster and Herpes Simplex Viruses and antibacterial prophylaxis for Pneumocystis jirovecii pneumonia. She had good physical recovery and was not affected by any post COVID-19 sequelae limiting her daily activities (Karnofsky Performance Status >= 90 %). Complete blood count is normal except for mild normocytic anemia (10-11 gr/dl) and IgG levels are >700 mg/dl.",
"gender": "Female"
}
] |
PMC10698652
|
[
{
"age": 7,
"case_id": "PMC11333127_01",
"case_text": "A 7-year-old female patient has been experiencing recurring neurological symptoms for 1.5 years. She was born full-term to consanguineous parents (first cousins). The family history was noncontributory, and her only 4-year-old sibling was healthy. Neurodevelopmental milestones were within normal limits before the initiation of the neurological problems.\nThe first episode presented as ataxia, multiple cranial neuropathies manifested as ophthalmoplegia and hoarseness following an upper respiratory tract infection. The patient underwent brain magnetic resonance imaging (MRI) which yielded normal results. She was treated for suspected vasculitis with corticosteroids. The ophthalmoplegia resolved within a day, but the ataxia persisted.\nThe second episode occurred 1 month later with peripheral facial nerve palsy. Further clinical details are lacking, but the palsy improved over time following a few physiotherapy sessions. Several months later, the patient developed acute vertigo, tinnitus due to vestibulocochlear nerve involvement, and right-sided hemiparesis. Brain MRI findings were suggestive of left-sided brain stroke (left internal capsule; Figure 1).\nShe was treated with enoxaparin, methylprednisolone, and intravenous immunoglobulin (IVIG) and discharged after few days. One week after discharge, she developed an unexplained high-grade fever together with an elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). She was treated with intravenous antibiotics for 2 weeks.\nShe was hospitalized again 2 months later with complaints of vertigo, bilateral temporal headache, unilateral hearing loss, and severe tinnitus. Auditory brainstem response (ABR) showed moderate to severe hearing loss in the left ear. Cotrimoxazole, biotin, L-carnitine, and vitamin E were prescribed throughout treatment.\nFinally, in the last episode, she presented with a decreased level of consciousness, severe vertigo, and deafness. At that time, ABR demonstrated mild to moderate hearing loss in the right ear and profound hearing loss in the left ear. After treatment with methylprednisolone, the patient became alert and had no cognitive impairment but was unable to communicate verbally due to the hearing loss. Ataxia, mild right hemiparesis, and facial palsy recurred, and the patient developed dysarthria and livedo reticularis on her limbs. Physical examinations revealed hypertonia and three plus deep tendon reflexes in all her extremities. Brain MRI revealed mild cerebellar atrophy and brainstem involvement. No difference was observed between the two MRI (Figure 1). Thyroid function tests, ophthalmologic exams, abdominal ultrasonography, EEG, thoracic and lumbosacral spine MRI, and nerve conduction velocity tests were all normal. Echocardiography revealed mild tricuspid regurgitation and a mild mitral regurgitation.\nLaboratory findings included increased inflammatory markers and a complement factor C3 of 187 mg/dL, while lupus anticoagulant, other anticoagulant and procoagulant factors, anticardiolipin IgG and IgM, anti-beta-2 glycoprotein, C4, and CH50 were all within the normal limits. All immunoglobulin types were lower than normal range except for IgE. Furthermore, the number of lymphocytes CD3 and CD8 were also decreased (Table 1).\nFinally, a whole-exome sequencing (WES) study revealed a reported homozygous missense variant in exon 2 of the ADA2 gene (NM_001282225) and c.140G>T (p.G47V). Based on ACMG guidelines, this variant can be classified as a pathogenic variant.\nThe ADA2 variant investigation was also performed for the parents, which disclosed the presence of same heterozygous variant in both parents. The patient's healthy sister was normal homozygote (Figure 2).\nWhen the diagnosis of DADA2 was confirmed, treatment with an antitumor necrosis factor alpha (anti-TNFalpha) agent (infliximab) and plasmapheresis were recommended. Besides, an evaluation of the sibling and a discussion of probable future pregnancies was performed. The patient responded well to the administered treatments. No further neurological manifestations occurred. She is currently under investigation for allogeneic bone marrow transplantation from her HLA-identical sibling donor.",
"gender": "Female"
},
{
"age": 6,
"case_id": "PMC11333127_02",
"case_text": "A 6-year-old girl from consanguineous parents (third cousins) was admitted to the hospital due to intermittent fever since a month ago, aphthous lesion in mouth, weakness, cervical lymphadenopathy, and bicytopenia with an admission diagnosis of typhoid fever. The bicytopenia existed a month before the typhoid fever. She has two other siblings with a history of lymphadenopathy and elevated liver enzymes due to Epstein-Barr virus (EBV) infection.\nIn her laboratory data, lymphopenia was evident. In addition, her bone marrow aspiration was markedly hypocellular with infiltration and focal aggregation of lymphoid cells.\nLiver function tests, lactate dehydrogenase (LDH), ferritin, and CRP were all elevated. Albumin was slightly decremented. Autoantibodies including anti-Sjogren's-syndrome-related antigen A (anti-SSA), anti-Sjogren's-syndrome type B (anti-SSB), fluorescent antinuclear antibody (FANA), and anti-double-stranded DNA antibody (anti-dsDNA) were negative, indicating the absence of autoimmune diseases. Hyper IgG and IgA were also observed. NBT test and dihydrorhodamine (DHR) were normal, while lymphocyte transformation tests were lower than normal. All immunologic tests are illustrated in detail in Table 1. Moreover, double-negative T cell was negative. Infectious laboratory workups revealed a positive Widal test. Salmonella Paratyphi C was detected in the stool culture test. All CMV, EBV, HIV, and parvovirus B19 were negative.\nComputed tomography (CT) scan of the thorax demonstrated mild enlarged lymph in both axillae. Furthermore, a CT scan of the abdomen and pelvis indicated mild hepatosplenomegaly. She received treatment with broad-spectrum antibiotics, caspofungin, and G-CSF, but did not show significant improvement. An excisional biopsy of cervical lymph nodes was performed. Morphologic study and immunohistochemistry staining of cervical lymph nodes were consistent with reactive lymphadenitis. According to a family history of EBV infection in her siblings, bicytopenia, cervical lymphadenopathy, elevated liver enzyme, and exclusion of malignancy by hematologists, an underlying immunodeficiency was highly suspected, and immunologic laboratory tests were performed (Table 1).\n Table 1 illustrates the details of laboratory work-ups in two presented cases.\nAs shown in Table 1, the patient exhibited low levels of lymphocytes and neutrophils, a low CD3 and CD4 count, and an abnormal level of immunoglobulins and lymphocyte transformation test. Taken together, these abnormal test results strongly suggest an immunodeficiency diagnosis.\nMeanwhile, she received corticosteroid therapy, but her clinical manifestations did not improve (before administrating corticosteroids, all suspected infections such as EBV and CMV were ruled out). After 2 months, she was readmitted with fever and diarrhea. Unfortunately, she was expired due to septic shock while her chest CT scan was in favor of COVID-19. The requested WES before her death showed a pathogenic nonsense variant (c.934C>T; p.R312*) in ADA2 gene. The family refused to undergo segregation analysis.",
"gender": "Female"
}
] |
PMC11333127
|
[
{
"age": 49,
"case_id": "PMC11021089_01",
"case_text": "A 49-year-old woman with no significant medical history presented to our hospital with transient paresis in the right upper limb, dysarthria for 10 min, and ongoing numbness in the right upper limb. Although she presented with numbness in the right upper limb, a neurological examination revealed no deficits in the emergency room. Computed tomography (CT) of the head revealed multiple high-density lesions in the left frontal and temporoparietal regions [Figures 1a and b]. Blood tests revealed no abnormalities in the coagulation system. Based on the initial CT findings in the emergency room, an acute subdural hematoma was suspected. As the follow-up CT did not show an increase in the subdural hematoma or worsening of symptoms, the patient was treated conservatively. However, meningiomas and other intracranial tumors were also listed as differential diagnoses because there was no history of head trauma or coagulation abnormalities on blood examination, and further imaging studies were performed. Contrast-enhanced T1-weighted imaging revealed an extra-axial mass with homogeneous contrast enhancement [Figures 1c and d]. Digital subtraction angiography of the external carotid artery revealed a tumor stain consistent with the lesion location [Figures 1e and f]. Blood examination revealed elevated levels of soluble interleukin-2 receptor. 18F-fluorodeoxyglucose (FDG) positron emission tomography with CT revealed no significant high value in FDG uptake. Because the imaging findings were suggestive of a subdural neoplastic lesion, an open biopsy was performed to confirm the diagnosis of a subdural lesion. Intraoperative findings revealed a thickened dura mater and a substantial tumor [Figures 1g and h]. The biopsy lesion was subjected to histopathological examination. The biopsied specimens were confirmed as malignant lymphoma or infiltration of inflammatory lymphocytes in the frozen sections, and additional specimens were biopsied from the same lesion to complete the procedure.\nHistopathological examination revealed small lymphocytic infiltration [Figure 2a]. Immunohistochemical analysis revealed a low MIB-1 Labeling Index (20%). The tumor exhibited positive immunoreactivity to the CD3, CD20, CD27, and insulin-like growth factor 2 messenger RNA-binding protein-3 (IMP3) [Figures 2b and c]. In contrast, CD5, CD10, and Bcl2 showed negative immunoreactivity.\nImmunohistochemical examination revealed immunoglobulin light chain restriction (Kappa: Lambda = 100:2) [Figures 2d and e]. Based on a comprehensive review of these findings, the patient was diagnosed with EMZMBCL.\nWhole-brain (21 Gy in 14 fractions) and intensity-modulated radiation therapy (9 Gy in 6 fractions) were administered as adjuvant therapy. The patient was discharged without neurological deficits. Compared with the pretherapy magnetic resonance imaging (MRI) [Figures 3a and b], MRI performed 3 months after radiation therapy [Figures 3c and d] showed tumour disappearance. MRI performed eight months after radiation therapy revealed no recurrence [Figures 3e and f].",
"gender": "Female"
}
] |
PMC11021089
|
[
{
"age": 29,
"case_id": "PMC11223902_01",
"case_text": "A 29-year-old male with obesity (BMI 32) and type 1 diabetes presented to the emergency department following a high-speed motor vehicle collision (MVC) as a restrained rear passenger. He complained of neck, chest, and lower abdominal pain on initial assessment, with tachycardia (HR 119) and hypotension (BP 102/56 mmHg). His abdominal exam did not demonstrate peritoneal signs, but seatbelt-patterned abrasions were evident on the neck, chest, and lower abdomen. The patient responded positively to resuscitation, and subsequent X-rays of the chest and pelvis revealed no injuries. CT scans revealed complete absence of the rectus muscles below the umbilicus with bowel herniation along with fractures of ribs and spinal transverse processes (Figures 1, 2, 3, and 4).\nThe patient underwent exploratory laparotomy, revealing extensive abdominal muscle transection and colon devascularization with perforation (Figure 5). Damage control surgery was performed to ensure viability of the bowel because of the extensive devascularization caused by the crush injury, followed by a second look laparotomy during which Hartman's type colostomy was matured, and primary abdominal wall repair was performed. Post-op course was complicated by prolonged respiratory failure. Ultimately the patient was discharged to a rehabilitation facility 1 month following the initial presentation.",
"gender": "Male"
}
] |
PMC11223902
|
[
{
"age": 53,
"case_id": "PMC10703536_01",
"case_text": "This is a 53-year-old male with a past medical history of uncontrolled type 2 diabetes mellitus who presented for evaluation of one week of new-onset worsening and persistent exertional shortness of breath associated with bilateral leg edema, orthopnea, and paroxysmal nocturnal dyspnea. Three weeks prior, while investigating for abdominal wall cellulitis, blood cultures were positive for Streptococcus gallolyticus, and the patient was found to have infective endocarditis of the aortic and mitral valves. At that time, he was discharged with a ceftriaxone infusion for six weeks.\nOn physical examination, jugular venous distension and hepatojugular reflux were noted; a systolic murmur in the second intercostal space, right parasternal area radiating to the right carotid artery, and a diastolic murmur in the fifth intercostal space of the midaxillary line, bilateral basilar rales, and pitting edema were present. A 2 x 2 cm soft, nontender, immobile mass was appreciated in the right side of the neck. He had a brain natriuretic peptide of 1406 pg/ml (<100) and hemoglobin A1C of 13.6%. The chest X-ray was consistent with pulmonary edema (Figure 1). CT chest revealed a left lower lobe pulmonary embolism and pulmonary edema. The echocardiogram demonstrated a left ventricular ejection fraction of 65-70%, severe aortic regurgitation, and moderate size aortic valve and moderate size mitral (anterior leaflet) valve vegetations, which were larger compared to the previous study three weeks ago (Figures 2 and 3). CT soft tissue neck revealed findings highly concerning for osteomyelitis/discitis at C5/C6 and a prevertebral/retropharyngeal abscess, measuring approximately 7.7 x 2.6 x 5.0 cm in size. The patient was started on furosemide, cultures were repeated, and ceftriaxone was continued.\nDue to the severity of valvular involvement, the patient was transferred emergently to our higher level of care facility for aortic and mitral valve replacement. Subsequently, he underwent a C5/C6 corpectomy, C5-6 and C6-7 bilateral discectomy and foraminotomies, placement of vertebral body cage, and cervical plate spanning of C4-C7 and fusion. The repeat blood cultures remained negative for twenty days before valve replacement surgery. Colonoscopy was unremarkable for colon cancer, demonstrating two benign colon polyps consistent with tubular adenoma. The patient was treated for endocarditis for a total of 6 weeks on ceftriaxone 2 grams daily. Following the patient six months after discharge, he has been stable with no active medical issues while following up with the cardiologist.",
"gender": "Male"
}
] |
PMC10703536
|
[
{
"age": 53,
"case_id": "PMC10794867_01",
"case_text": "A 53-year-old woman with a 16-year history of oral medication treatment for depression was referred to our hospital for poorly controlled asthma. She was a never-smoker and had been diagnosed with bronchial asthma for >10 years. She was treated with a combination of inhaled corticosteroid (ICS)/a long-acting beta2-agonist (LABA) (fluticasone propionate) [FP; 250 mug]/salmeterol [SM; 50 mug] and betamethasone 0.25 mg/dexchlorpheniramine 2 mg (Celestamine ) at the primary care clinic. She was switched to single-inhaler triple therapy (indacaterol [IND; 150 mug]/glycopyrronium [GLY; 50 mug]/mometasone furoate [MF; 160 mug]) due to poor control of bronchial asthma. We initiated triple therapy, asthma control test (ACT) score improved from 5 to 23, and chest x-ray was normal and systemic steroids were discontinued after 6 weeks. However, after discontinuing systemic steroid treatment, a worsening of bronchial asthma was observed. An uncontrolled asthma state was indicated by ACT score of 5. Laboratory data showed an elevated white blood cell count (10,400 cells/muL), with 60.2% eosinophils. C-reactive protein level was 0.28 mg/dL, and the total serum immunoglobulin (Ig)-E level was 1090 IU/mL (normal range: 0-148 IU/mL). The results of serum proteinase-3 antineutrophil cytoplasmic antibody (ANCA) and myeloperoxidase-ANCA were negative (<1.0 U/mL). The atrial blood examination under ambient air showed a pH of 7.419, partial pressure of carbon dioxide (PaCO2) of 44.3 mmHg, partial pressure of oxygen (PaO2) of 76.0 mmHg. Chest radiograph revealed reticular shadows in the bilateral lungs (Figure 1A). Chest computed tomography (CT) revealed ground glass opacity in bilateral lung fields. Bronchiolitis or centrilobular nodules or bronchial wall thickening were not detected (Figure 1B-F). Inflammatory markers indicated elevated fractional exhaled nitric oxide levels (FeNO, 127 ppb). Rheumatoid factor (RF) levels were elevated (34 IU/mL). Pulmonary function test revealed a forced expiratory volume in 1 s (FEV1) of 2020 mL (85.5% of predicted value) and FEV1/forced vital capacity of 61.0%. The patient also had sinusitis with slightly thickened mucosa and retained the secretions of maxillary sinuses. (Figure 1M,N). We performed bronchoscopy. By observation, mucus plugs were not detected. Bronchoalveolar lavage fluid (BALF) contained a high percentage of eosinophils (71.0%). The transbronchial lung biopsy specimens showed eosinophilic infiltration (Figure 1O,P). Charcot-Leyden Crystals were not detected. She was diagnosed with CEP accompanied with bronchial asthma. Figure 2 shows the clinical course of the patient.\nAfter bronchoscopy, systemic prednisolone (PSL) 40 mg, were administered. Peripheral blood eosinophil counts decreased and chest radiograph findings showed improvement (Figure 1G-L). The ACT score improved from 5 to 25. The RF levels were normalized. However, after starting corticosteroid treatment, her depression worsened. Therefore, corticosteroid dose was immediately tapered. Due to the risk of recurrence by rapid withdrawal of corticosteroid treatment, we obtained informed consent to initiate remission induction therapy with benralizumab, a humanized monoclonal antibody that targets the IL-5alpha receptor (30 mg every 4 weeks for 3 doses and then once every 8 weeks). After the initiation of benralizumab, the blood eosinophil count dropped to 0. The corticosteroid dose was subsequently reduced. Approximately 3 months later, corticosteroids were discontinued. After continued treatment with corticosteroids, the patient continued treatment with benralizumab alone and has remained in remission for approximately 4 months.",
"gender": "Female"
}
] |
PMC10794867
|
[
{
"age": 59,
"case_id": "PMC10765511_01",
"case_text": "We presented a case of a 59-year-old male who was hospitalized with intermittent upper abdominal pain in October 2021. Contrast-enhanced computed tomography (CT) scan showed a 2.2cm x 2cm mass at the neck of the pancreas with distal pancreatic duct dilatation ( Figure 1A ). The mass was closely related to the splenic vein. But after discussion, the Multiple Disciplinary Team (MDT) believed that the patient was also accompanied by superior mesenteric artery (SMA) invasion less than 180 ( Figure 1B ). But no distant metastasis was detected at that time. In addition, the baseline value of carbohydrate antigen 19-9 (CA19-9) was 12.99 U/ml. Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) was performed and subsequently cancer cells were verified pathologically ( Figure 1C ). The patient was definitely diagnosed with borderline resectable pancreatic cancer based on pathology and imaging. But the patient refused to consider the possibility of follow-up operation firmly at the very start.\nFrom November 2021 to March 2022, the patient received 5 cycles (21 days for one complete cycle) of gemcitabine 1000 mg/m2 and nab-paclitaxel 125 mg/m2 on day 1 and day 8 and the patient stayed a stable disease. After 5 cycles of the treatment, CA19-9 increased to 76.7U/ml. In addition, CT scan revealed that the size of pancreatic primary tumor had increased remarkably and four new hepatic masses appeared ( Figure 1G-T1 ). Pathology for Ultrasound guided biopsy of the hepatic mass was concordant with liver metastasis of pancreatic ductal adenocarcinoma ( Figure 1D ). The patient was assessed progressive disease (PD).\nSubsequently, S-1 plus oxaliplatin combined with immunotherapy and radiotherapy were used in second-line treatment. In detail, the patient received 3 cycles of S-1 80mg/day on day1-14 plus oxaliplatin 130mg/m2 on day 1 and Sintilimab 200mg on day 1 (21 days for a complete cycle) while 8Gy*3 fractions radiotherapy of liver metastases within PTV was conducted before Cycle2 started ( Figure 2A ).\nAfter finishing 3 cycles of this treatment, the patient developed toxic epidermal necrolysis (TEN) and after the Multiple Disciplinary Team (MDT) discussion, the experts unanimously assessed TEN as immune-related adverse event (irAE). After methylprednisolone, anti-infection, fluid infusion treatment, his symptoms quickly relieved ( Figure 2B ) and tumor marker CA19-9 decreased to 19.2 U/ml by the TIME. CT scan revealed that the primary pancreatic tumor and hepatic metastases had both shrunk remarkably ( Figure 1G-T2 ). Surprisingly, a hepatic metastasis within the scope of radiotherapy had disappeared in CT scan. Obvious inflammatory cell infiltration was confirmed by pathology and no cancer cells was found in the biopsy tissues ( Figure 1E ). One hepatic metastasis within the scope of radiotherapy was assessed CR, the other one was evaluated PR, and other two hepatic metastases outside the scope of radiotherapy were also considered PR according to the Response Evaluation Criteria in Solid Tumors (RECIST1.1) criteria.\nWe conducted the SOX regimen for another 3 cycles when symptoms related to TEN were greatly relieved. At the time, CA19-9 decreased to 6.94U/ml and all tumors continued to shrink as CT indicated ( Figure 1G-T3 ). Tumor diameter changes were demonstrated in Figure 1F . The concomitant changes of CA199 and timeline of events were demonstrated in Figure 3 in details.\nTo comprehensively assess the alteration of TIME before and after treatment, we performed multiplexed immunofluorescence histochemical (mIHC) analysis at the protein level and gene expression analysis at the RNA level on M2 hepatic metastasis prior and post treatment, respectively. The spatial immune microenvironments of tumor tissues prior ( Figure 4A ) and post treatment ( Figure 4B ) were shown by mIHC assay. The relative values of CD8+, CD68+, CD163+, Foxp3+, and PD-L1+ were 7.74, 3.9, 1.91, 2.84, and 0.69 respectively, showing a high infiltration of immune cells and low expression of PD-L1 (subtype TIME-3, immune escape type). After 3 cycles of immunotherapy combined chemoradiotherapy, the relative values of CD8+, CD68+, CD163+, Foxp3+, and PD-L1+ were 19.02, 6.06, 30.44, 8.11, and 21.76 respectively, showing a high infiltration of immune cells and high expression of PD-L1 (subtype TIME-2, immune response type). The RNA-level expression assay of TIME was detected by 289 immune-related genes (NanoString Technologies, Seattle, USA) at Jiangsu Simcere Diagnostics Co., Ltd, and the selection of immune-related genes is shown in Supplementary Materials . The abundance of immune cells related with the tumor microenvironment was shown in Figure 4C , and the abundances of all immune cells were elevated to different degrees, and other immune signatures in Figure 4D . For example, the CD8+ T cell score increased from 4.13 to 7.48, and the Macrophage gene score improved from 6.05 to 8.07, and the Treg gene score improved from 3.32 to 5.36. In addition, the mIHC results also revealed an increase in Treg cells and M2 macrophages, consistent with previous study that the effect of radiotherapy on the tumor microenvironment may be dual, inducing both an immunostimulatory effect (recruitment of T cells) and an immunosuppressive effect (expansion of Treg cells). Therefore, we hypothesized that this coexistence of immunostimulatory and immunosuppressive effect in radiotherapy leads to stabilization of the patient's disease and may provide opportunities for immunomodulation. Scores of other signatures or markers also increased, such as the scores of IFNgamma from 5.29 to 8.51, cytotoxic T lymphocyte from 4.43 to 7.64. Interestingly, the change in the scores for B7-H3 showed a decreasing trend in contrast to the other scores, and previous studies have also shown a negative correlation between its high expression and treatment response. Additional immune scores were shown in Supplementary Table 1 . Both mIHC, as well as TIME assays at the RNA level, reveal that immunotherapy combined with chemoradiotherapy enhances immune cell infiltration, which may be responsible for promoting the immune response and benefiting patient's clinical response.",
"gender": "Male"
}
] |
PMC10765511
|
[
{
"age": 36,
"case_id": "PMC10896748_01",
"case_text": "This case study is about a patient who enrolled at an infertility clinic in the state of Maharashtra, India. The individuals who sought infertility treatment were a 36-year-old female and a 40-year-old male patient suffering from primary infertility. The patient was employed as a staff nurse in our hospital. The couple did not exhibit any addictions, such as smoking, tobacco use, or alcohol consumption.\nMedical/surgical history\nThe patient had recurrent implantation failure (RIF) and a history of three intra-uterine insemination (IUI) and two intracytoplasmic sperm injection (ICSI) failed cycles. Asthma, heart conditions, tuberculosis, or hypertension were absent in either partner's medical history. The couple had no prior history of mental or psychiatric illness, and the family history was negative. They sought IVF treatment at our medical facility for the first time.\nPhysical examination and investigation\nThe body mass index (BMI) for the female was 24.5 kg/m2, and for the male, it was 25.6 kg/m2.\nBoth individuals underwent comprehensive infertility evaluations to determine the underlying cause of their infertility.\nAccording to the husband's semen analysis, the sperm count was reported to be 40 million/ml, semen morphology was 94%, and motility was 64%. The normal morphology of semen is 6%. According to his report, his semen profile indicated normozoospermia.\nAfter an endometrium biopsy, the report revealed high ROS levels, known for causing thin endometrium (<7mm). Her hormonal levels showed abnormalities: the anti-Mullerian hormone (AMH) level was 1 ng/ml, and the follicle-stimulating hormone (FSH) level was normal.\nDiagnosis and treatment\nThis was a case of primary infertility, where the cause was an increased level of ROS leading to a thin endometrium despite normal spermatic parameters in the patient's husband.\nThe patient underwent a recommended hysteroscopy, and the report indicated a thin endometrium (<7 mm) at the time of implantation. Consequently, a thin endometrium was presumed to be noticeable in the patient with RIF. Treatment alongside autologous platelet-rich plasma (PRP) has been advocated. PRP is well-known for its high platelet concentration, as platelets contain growth factors that promote tissue regeneration and repair. The patient was advised for intracytoplasmic sperm injection (ICSI) and initiated the treatment. Gonadotropin-releasing hormone antagonists (GnRH) and gonadotropin-releasing hormone agonists (GnRH) were used to control ovulation timing and stimulate the development of multiple follicles in the ovary. A trigger was administered for ovum pick-up (OPU). After 36 hours of the trigger, ovarian aspiration was scheduled. Three oocytes were retrieved during OPU (1 MII, 1 MI, 1 GV). ICSI was performed on the same day, resulting in the formation of good-quality cleavage-stage embryos. However, by the third day, the embryos had degenerated.\nFor the second cycle, the patient was recommended an endometrial biopsy, which revealed a high level of ROS, a notable cause of thin endometrium. The patient was subsequently advised to undergo a three-month treatment with tempol medicine via the intra-vaginal route. After three months, the female underwent another endometrial biopsy, which showed a significant decrease in ROS levels. Two months post-endometrial biopsy, the patient was rescheduled for ICSI along with the utilization of autologous PRP. Follicular fluid screening yielded five oocytes (3 MII, 1 MI, 1 GV). On the same day, ICSI was performed, and autologous PRP was administered two days before embryo transfer (ET). A significant improvement in the endometrial layer was observed, with an increase in endometrial thickness. Good-quality blastocysts (4AA) were transferred during embryo transfer, and the procedure was well-tolerated by the patient. Figure 1 shows the image of PRP used for the patient. Figure 2 denotes the blastocyst (4AA) that was transferred to the patient.\nFollow-up\nThe patient was advised to take prescription medications after the embryo transfer procedure, such as 200 mcg of orally administered progesterone for the next 14 days, to support the growth of the uterine lining and improve implantation. Periodic follow-up visits allowed close observation of the patient as her progress was evaluated. Additionally, the patient received advice on lifestyle adjustments, including suggestions for a nutritious diet, regular exercise, and avoiding possible hazards. Pervasive encouragement and counsel were provided to address any issues or questions that arose throughout the follow-up phase. Paying close attention to the patient's overall condition and the pregnancy's advancement exacerbated their probability of a favorable outcome. Two weeks later, at prepared follow-up appointments, the patient's pregnancy was confirmed by a positive beta-human chorionic gonadotropin (beta-hCG) test. The value of beta-hCG was reported as 1240 mIU/ml.",
"gender": "Female"
}
] |
PMC10896748
|
[
{
"age": 30,
"case_id": "PMC10985509_01",
"case_text": "A 30-year-old female patient was referred from the Endodontics Department for the restoration of the lower left lateral incisor (tooth #32 in the ISO system or tooth #23 in the universal numbering system). The patient had a low socioeconomic status, poor oral hygiene, and several carious lesions. The clinical crown was lost approximately to the level of the gingiva (Figure 1).\n Radiographic examination showed the over-instrumentation of the root canal, resulting in flared and extremely weak dentinal walls (Figure 2). \nAll the treatment options were explained to the patient, including extraction of the tooth and placement of an implant-supported restoration, or restoring the tooth with resin composite and intra-canal post. Rehabilitation was undertaken with post-and-core and composite build-up based on the patient's choice. Informed consent was obtained.\nAfter removing the temporary restorative material, a gingivectomy was carried out to half the depth of the gingival sulcus (1mm) using a tissue trimmer ceramic bur (CSTT, Ceramic Burs FG, Dia-Tessin, Vanetti SA) (Figure 1). Afterward, gutta-percha was removed, followed by conservative root canal preparation using a bur with a non-cutting end (i.e., Gates-Glidden and Peeso reamer). These instruments cut and remove gutta-percha rather than the dentin of the canal wall. Since the dentinal wall was very thin in the middle third of the root (approximately 0.3mm in the mid-mesial portion of the root (Figure 2)), gutta-percha removal was limited to this level due to the risk of root perforation. In the same session, all the preparation angles were rounded, and the Duralay resin pattern was made for post-and-core.\nIn the laboratory, the post-and-core resin pattern was sprued and waxed onto a special muffle former and filled with investment material. After a setting time of 25 minutes, the muffle was placed into the preheated preheating furnace at 850 C - 900 C for 45 minutes. Then the temperature was lowered slowly (max. 8 C/minute) to the required melting temperature (400 C) of the PEEK material (BioHPP for2press, Bredent, UK), and the melting reservoir of the muffle was filled with BioHPP for2press in accordance with the wax weight of the model and was placed back into the calibrated preheating furnace at a temperature of 400 C (melting time:20 minutes). The press procedure was completed automatically. Devesting pliers were used to remove the investment material. Investment material residue was removed with a fine sandblasting unit (110mu aluminium oxide, at a pressure of 2.5bar). The distance between the nozzle of the sandblasting unit and the objects should be at least 3cm. Otherwise, the polymer will be heated selectively and damaged. Then, tungsten carbide burs were used to achieve the desired shape (Figure 3).\nIn the next session, after removing the temporary restorative material, the tooth was cleaned with an endosonic ultrasound cleaner (Figure 4).\nAfter testing and adjustments, the PEEK post-and-core was cleaned in an ultrasonic ethanol bath, air abraded, and cemented with resin-modified glass-ionomer (RMGI) (GC Fuji II LC, GC America) under rubber dam isolation (Figure 5). \nThe adhesive resin (Clearfil SE Bond, Kuraray, Japan) was applied to all the dentin surfaces before cementation to enhance the bond strength of RMGI to dentin. The tooth crown was restored with composite resin A2 shade (Aelite All-Purpose Body and Aelite Aesthetic Enamel, BISCO Dental Products, IL, USA) after the bonding process (GPB; GC Corp, Tokyo, Japan) and masking the PEEK color by tinting (Creative Color Tints, Light Brown, Cosmedent, Chicago, IL). Figure 6 shows the outcome of the restorative procedure at the end of the session. After one year, the restoration was intact and satisfying without any symptoms.",
"gender": "Female"
}
] |
PMC10985509
|
[
{
"age": 69,
"case_id": "PMC11067799_01",
"case_text": "Based on previous research, this study used a total of 8 covariates to effectively control for individual-level variables. The 8 covariates considered were gender (1 = female, 0 = male), age (1 = 60-69 years old, 2 = 70-79 years old, 3 = 80 years old and older), pension (1 = <3 000 RMB, 2 = 3 000-5 000 RMB, 3 = 5 000-7 000 RMB, 4 = >7 000 RMB), hukou status (1 = household registration in Hangzhou, 0 = household registration in other cities), educational level (1 = secondary school and below, 2 = high school, 3 = college or undergraduate and above), lifestyle (1 = living alone, 0 = living with family), length of residency (1 = more than 5 years, 0 = less than 5 years), and chronic disease (1 = no chronic diseases, 0 = suffering from chronic disease).\nDescriptive statistics were utilized to present the distribution of the data at both the environmental and individual levels. The interaction relationships between variables were analyzed using a structural equation model (SEM), which typically involves 2 steps. The first step is to perform confirmatory factor analysis (CFA) on the measurement model to assess the extent to which the observed variable can explain the variance in the latent variable. The second step involved the creation of 3 SEMs with 300-m, 500-m, and 800-m buffers. These models were constructed on the basis of the assumption of a relationship between variables with the aim of examining the effects and potential pathways of the BE on older adults' MH. Although there was a nested relationship between the data at the environmental and individual levels, the intraclass correlation coefficient (ICC) value was 0.029 (less than 0.059), indicating a low degree of intragroup correlation. This suggests that there were minimal intergroup differences; therefore, there was no need to consider the impact of nested structures. Moreover, the creation of multilevel models normally requires a minimum of 50 groups, whereas this study included only 30 groups. Hence, this study utilized an ordinary SEM for data analysis. Furthermore, to enhance the accuracy of the estimation of the mediating effect, the bootstrap method was used with 5 000 repeated samples. When the confidence interval (CI) of the result of the mediation effect does not include 0, the mediation effect is considered statistically significant.\nFor the sensitivity analysis of the relationship between the BE and older adults' MH, the propensity score (PS) method was used to mitigate the influence of confounding variables and minimize model estimation errors resulting from an excessive number of covariates. Specifically, the PS method was used to represent the confounding effects of 8 covariates as a comprehensive PS. The PS was subsequently utilized to create new SEMs for sensitivity analysis to assess the robustness of the initial models. Stata 17.0 software was used for descriptive statistics and other basic data analyses, whereas Mplus 8.1 was used for SEM, mediation effect analysis, and sensitivity analysis. The criterion for statistical significance was p < .05.",
"gender": "Female"
}
] |
PMC11067799
|
[
{
"age": 10,
"case_id": "PMC10578408_01",
"case_text": "A 10-year-old girl presented to our pediatric endocrinology office with a history of severe genu valgum and findings consistent with metabolic bone disease (Fig. 1). She had been diagnosed with possible vitamin D deficient rickets several weeks earlier by an orthopedic surgeon and referred to endocrinology for further evaluation. At the time of her first endocrinology visit, she was taking 400 IU daily of vitamin D. According to the patient's mother, the bowing of her legs became apparent at 5 years of age and did not interfere with normal motor development, so earlier intervention was not pursued. Her genu valgum was treated surgically by hemi-epiphysiodesis using 8-plate tethers 1 month after the initial endocrinology evaluation.",
"gender": "Female"
},
{
"age": 8,
"case_id": "PMC10578408_02",
"case_text": "She had a prior history of hospitalization at the age of 3 years for a kidney stone, which she was able to pass spontaneously. The composition of the stone was unknown, and she had no further kidney stones or urinary symptoms since that time. She broke her right distal radius after a fall from playground equipment (\"monkey bars\") when she was 8 years old. There was no family history of skeletal dysplasia, recurring fractures, bone disease, or renal stones. She denied symptoms of bone pain or muscle weakness.\nApart from significant genu valgum, her physical exam was normal, with no evidence of pectus abnormalities or joint swelling. Her growth curves were tracking appropriately; her weight was at the 45th percentile and height was at the 23rd percentile for age. A dual-energy X-ray absorptiometry scan showed a total hip Z-score of -2.0 and lumbar spine Z-score of 0.5, consistent with low bone mineral density.\nLaboratory studies were obtained and showed hypophosphatemia (2.7 mg/dL [0.87 mmol/L]; reference range, 4.0-5.2 mg/dL [1.3-1.7 mmol/L]) and low parathyroid hormone (8 pg/mL [0.85 pmol/L]; reference range, 10-65 pg/mL [1.1-6.9 pmol/L]), along with high alkaline phosphatase (1213 U/L [21 microkat/L]; reference range, 129-417 U/L [2-7 microkat/L]) and high 1,25 vitamin D (>220 pg/mL [572 pmol/L]; reference range, 24-86 pg/mL [62-224 pmol/L]). Calcium (10.0 mg/dL [2.5 mmol/L]; reference range, 9.3-10.6 mg/dL [2.3-2.7 mmol/L]) and 25-hydroxy vitamin D were both normal (28.4 ng/mL [70.9 nmol/L]; reference range, 20-50 ng/mL [50-125 nmol/L]). Given her history of renal stones, a spot urine calcium to creatinine ratio was also obtained, which was elevated at 0.31 mg/mg (0.86 mmol/mmol); reference range < 0.25 mg/mg (< 0.7 mmol/mmol).",
"gender": "Female"
}
] |
PMC10578408
|
[
{
"age": 37,
"case_id": "PMC11239416_01",
"case_text": "A 37-year-old male school teacher visited the hepatology department of the Second People's Hospital of Fuyang City, Anhui Province, on 7 March 2023, with a history of recurrent abnormal liver function for more than 2 years. He was diagnosed with an abnormal liver function during a physical examination in February 2021. Despite undergoing liver protection treatment, the patient's liver function remained abnormal. There was no more available information related to this case. On 19 February 2023, the patient's liver function, including alanine aminotransferase (ALT) (126 U/L), and aspartate aminotransferase (AST) (61 U/L), was tested again at another hospital. During his disease progression, the patient was conscious and alert but had a poor diet, weakness, and fatigue, accompanied by occasional pain and discomfort in the finger and toe joints. He reported good sleep and had no obvious abnormalities in urination or defecation. His body weight had not changed significantly over the past 2 years.",
"gender": "Male"
}
] |
PMC11239416
|
[
{
"age": null,
"case_id": "PMC10845073_01",
"case_text": "The patient was a black male in his 60s who initially presented with two purple papules on the right medial foot and the plantar surface of the second toe. The biopsy was consistent with Kaposi's sarcoma, with immunohistochemistry confirming HHV8 (Figure 1).\nThe HIV test was negative, and an MRI of the right foot revealed a 0.6 x 0.7 x 0.8 cm enhancing subcutaneous nodule along the right medial foot (Figure 2) and a 0.4 x 0.7 x 0.7 cm subtle subcutaneous enhancement along the plantar surface of the second toe (Figure 3).",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10845073_02",
"case_text": "The patient had a past medical history remarkable for hypertension, diabetes mellitus, and one cardiac catheterization. His family history was unremarkable. He denied any history of systemic corticosteroid use. He was initially prescribed alitretinoin 1% solution twice daily with resolution of lesions after nine months. However, seven months later, several small purple nodules developed on the medial and plantar area of the right foot with marked edema up to the midcalf.\nHe underwent a course of radiation therapy using 6 Megavolt (MV) x-rays using intensity-modulated radiation therapy (IMRT) to a total dose of 2000 cGy in five fractions via a tomotherapy linear accelerator. The clinical target volume included the skin of the entire right foot and the medial aspect of the right ankle up to an approximate depth of 0.5 cm (Figure 4).\nA four-week follow-up evaluation revealed mild erythema and discoloration of the right foot with mild tenderness and less than 1+ pitting edema. A three-month follow-up revealed that the lesions had completely resolved with some mild hyperpigmentation of the skin of the treatment area, but his right lower extremity swelling had slightly worsened.\nA follow-up examination at month 16 revealed several new small purple papules involving the right foot and lower leg, which were inside and outside of the previous radiation treatment fields. He also noted mild edema involving the right lower leg. Timolol 0.5% ophthalmic solution twice daily was started in combination with alitretinoin solution. The lesions improved following topical treatment. However, 10 months later, one of the lesions on the right lateral foot presented as a 6-mm bleeding-eroded papule. Several small purple papules/nodules on the right foot and 2+ pitting edema on the right lower extremity were also observed (Figure 5).",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10845073_03",
"case_text": "Treatment options were discussed with the patient who elected to undergo re-irradiation to the right lower leg and foot. He was treated with a course of radiation therapy using 6MV VMAT to a total dose of 3300 cGy in 11 fractions using a Varian IX linear accelerator, with the treatment volume including the skin of the right foot, ankle, and distal right leg to a depth of 0.5 cm (Figure 6). The equivalent dose in 2Gy fractions (EQD2) for the treatment of this patient is as follows: 28 Gy for 4 Gy x 5 fractions and 39.6 Gy for 300 cGy x 11 fractions (assuming an alpha/beta of 3 for a sarcoma). The total EQD2 from both treatments would be 67.6 Gy.\nHe tolerated the treatment well overall, with no significant treatment breaks. He developed the expected radiation side effects including dry and moist desquamation involving the right lower extremity, which was treated conservatively with Aquaphor and Silvadene cream.\nAt a four-week follow-up after re-irradiation, an examination of the right lower extremity and foot revealed hyperpigmentation, dry desquamation, and improved edema. He underwent a four-month follow-up evaluation, and at the time, the desquamation and swelling of the right lower extremity had significantly improved with no pitting edema of the right lower extremity. The Kaposi's sarcoma lesions had disappeared with only minimal hyperpigmentation of the right lower extremity. He was able to walk comfortably and wear shoes, which he had not been able to do previously because of the edema.",
"gender": "Male"
}
] |
PMC10845073
|
[
{
"age": 0,
"case_id": "PMC11021599_01",
"case_text": "The case involves a 3-month-old female born prematurely at 33 + 5 weeks to non-consanguineous parents, weighing 1990 g at birth. Post-delivery, she developed a small bowel volvulus linked to bowel malrotation, necessitating surgical intervention that resulted in short bowel syndrome. At birth, clinical indicators suggestive of CNS emerged, including edema, hypoproteinemia, hypoalbuminemia, significant proteinuria with albuminuria (urinary protein/urinary creatinine: 48,908.17 mg/g/urinary albumin/urinary creatinine 36,083.39 mg/g), hypertriglyceridemia, normal renal function (eGFR with Schwartz equation 45.43 ml/min/1.73 m2), reduced antithrombin activity (ATa) (21%) and a renal ultrasound without abnormalities. Subsequent analysis via Next-Generation Sequencing focusing on the Finnish variant of CNS revealed compound heterozygosity for the NPHS1 nephrin gene: c.1538T>C p.(Leu513Pro), categorized as likely-pathogenic, and c.3250dup p.(Val1084Glyfs Ter12), categorized as pathogenic.\nAt 3 months of age, she was transferred to our hospital to assess combined nephrological and nutritional management. She required daily IV albumin infusion and continuous parenteral nutrition, administered through a central venous catheter. Despite prior Low Molecular Weight Heparin (LMWH) thromboprophylaxis, an incidental finding during routine ultrasound indicated a non-occlusive left jugular vein thrombosis associated with the catheter. She had impaired coagulation tests, with partial thromboplastin time (aPTT) ratio 1.6, decreased FIX (33%), FXI (40%) and FXII (13%), a nearly absent ATa (1%) presumably related to the CNS and a negative lupus anticoagulant. Antithrombotic treatment commenced with LMWH, adjusted to achieve an anti-FX activity range between 0.5 and 1 following intravenous AT replacement. However, despite doses of enoxaparin reaching up to 7 mg/kg/12 h, the target was unattainable. Furthermore, AT activity only reached 10%. During this period, the patient presented a new contralateral jugular thrombosis. Anticoagulation therapy transitioned to warfarin at a dose of 0.15 mg/kg, aiming for an international normalized ratio (INR) value between 2.0 and 3.0. Nevertheless, 7 weeks after starting warfarin a new venous thrombosis progression affecting the innominate trunk, left subclavian vein, and axillary vein was diagnosed. Throughout the course of warfarin treatment, the patient's time spent within the therapeutic range was 13%. Complications emerged during her treatment, including bleeding at catheter puncture sites and mild hematuria on two occasions. Additionally, for perioperative anticoagulation during catheter replacements and left nephrectomy (due to the failure of pharmacological induction of renal insufficiency), management with unfractionated heparin (UFH) was necessary. Monitoring was conducted using anti-FXa due to baseline aPTT elevation secondary to acquired FIX and FXI deficiency.\nThe anticoagulation strategy was changed to rivaroxaban post parental authorization. Albeit there are no specific recommendations for monitoring DOAC levels in the pediatric population, concerns regarding potential diminished drug absorption due to Short Bowel Syndrome (SBS) led us to employ a chromogenic Anti-Xa assay, from Technoclone (Vienna-Austria), normalized against a standardized dilutional rivaroxaban concentration curve, to monitor and adjust the dose. Based on prior case reports, our goal was to achieve peak plasma concentrations (2-3 h after the taking) between 189 and 419 ng/ml and trough plasma concentrations (prior to the next dose) 6 and 87 ng/ml. Initially rivaroxaban was started at 1.6 mg/8 h in accordance to the technical sheet for a 5 kg weight and subsequently adjusted as shown in Figure 1.\nAn ultrasound conducted 12 weeks post initiation of rivaroxaban showed a persistent obliteration of the distal third of the internal left jugular vein with collateral circulation and permeability of all other cervical veins. Upon discharge, at 12 months of age, a new ultrasound revealed complete restoration of the internal left jugular vein's permeability. No bleedings were reported during treatment, and no further hospitalizations were required. Four months later, repeated episodes of regurgitation compromised rivaroxaban intake, and the patient was switched back to enoxaparin at a dose of 2.5 mg/kg/12 h, controlled by anti-FXa in the range of intermediate dosages 0.4-0.5 without further complications.",
"gender": "Female"
},
{
"age": 0,
"case_id": "PMC11021599_02",
"case_text": "At 20 months old, kidney transplantation was performed. Two weeks later, considering the history of thrombosis and the persistent need of the CVC for parenteral nutrition, rivaroxaban was reintroduced with adequate oral tolerance for secondary prevention of thrombosis.",
"gender": "Unknown"
}
] |
PMC11021599
|
[
{
"age": 67,
"case_id": "PMC10601880_01",
"case_text": "A 67-year-old Caucasian male presented to the emergency department (ED) 6 h after experiencing sudden vision loss in his left eye. He denied any pain, flashes, floaters, or any history of previous vision loss. He denied headache and jaw claudication. Past medical history included type II diabetes mellitus without retinopathy, atrial fibrillation, HTN, hyperlipidemia, coronary artery disease status post coronary artery bypass graft, and congestive heart failure (CHF) status post implantable cardioverter defibrillator (ICD) placement. He reported a negative family history for eye disease, and he denied previous ophthalmic surgeries. Medications included apixaban 5 mg daily, amiodarone 200 mg daily, carvedilol 12.5 mg twice daily, furosemide 20 mg daily, lisinopril 5 mg twice daily, metformin 500 mg twice daily, and atorvastatin 40 mg daily.\nOphthalmologic examination revealed a VA of 20/70 pinhole 20/30-2 right eye (OD) and light perception left eye (OS). Confrontational visual fields were full OD. Intraocular pressures by tonopen were 17 mm Hg and 16 mm Hg in the right and left eye, respectively. A relative afferent pupillary defect was noted in the left eye. Examination of the unaffected right eye was normal except for a trace nuclear sclerotic cataract. Examination of the left eye revealed a normal anterior segment except for a trace nuclear sclerotic cataract. Dilated fundus exam OS revealed a clear vitreous, a sharp optic disc with slight pallor and cup-to-disc ratio of 0.2. The vessels were narrowed. Retinal whitening was noted in the macular area with a cherry red spot, but no embolus was identified. The peripheral retina was flat without holes or tears.\nThe patient was diagnosed with CRAO in the left eye. He was admitted to the neurology service for a comprehensive stroke work-up. ESR and CRP were within normal limits. The patient's ICD was not compatible to perform a magnetic resonance imaging of the brain. Computed tomography of the head without contrast showed no acute intracranial abnormality. Computed tomography angiography (CTA) of the head and neck revealed significant calcifications at the carotid bifurcation bilaterally, most prominent on the left, extending approximately 1 cm into the left internal carotid artery. Carotid and vertebral duplex examination showed mild disease of the distal common carotid, proximal internal, and proximal external carotid arteries bilaterally. Transthoracic echocardiogram (TTE) revealed no thrombus. Fundus photography was normal OD (Fig. 1a) but displayed a cherry red spot OS (Fig. 1b). FA in the left eye exhibited significantly delayed arterial filling time (Fig. 2a-f). Optical coherence tomography (OCT) examination of the macula in the left eye revealed disruption of the inner retinal architecture (Fig. 3a).\nAfter obtaining cardiology clearance, the patient was started on twice daily 40 mug IV PGE1 in 100 mL normal saline 0.9% infusion with each dose administered over 3 h. Within 24 h of starting the IV PGE1 infusion, VA in the left eye improved to hand motion. After 48 h of treatment, VA improved to CF at 1-foot. At this time, repeat FA of the left eye demonstrated improvement in the arterial filling as well as significant improvement in the arteriovenous transit time compared to pre-treatment (Fig. 2g-l). After 4 days of hospitalization, the patient refused further treatment due to a subjective lack of improvement in his vision. The patient was discharged with close follow-up. Two weeks later, OCT of the macula in the left eye revealed extensive inner retinal edema (Fig. 3b); however, the patient left clinic prior to ophthalmic examination. Unfortunately, the patient was then lost to follow-up.",
"gender": "Male"
},
{
"age": 58,
"case_id": "PMC10601880_02",
"case_text": "A 58-year-old Black male presented to the ED 12 h after experiencing sudden vision loss in his left eye. He endorsed intermittent retro-orbital pain OS as well as occasional tension headaches. He denied any flashes, floaters, or any history of previous vision loss. He denied jaw claudication or scalp tenderness. Past ocular history included visually-significant cataracts in both eyes. Past medical history included HTN (not on medication) and active smoking with a 20 pack-year history. He reported a negative family history for eye disease, and he denied previous ophthalmic surgeries.\nOphthalmologic examination revealed a near VA of 20/100 pinhole no improvement OD and NLP OS. Confrontational visual fields were full OD. Intraocular pressures by tonopen were 21 mm Hg and 19 mm Hg in the right and left eye, respectively. A relative afferent pupillary defect was noted in the left eye. Examination of the unaffected right eye was normal except for a 3+ nuclear sclerotic cataract as well as attenuated vessels on fundus examination (Fig. 1c). Examination of the left eye revealed a normal anterior segment except for a 3+ nuclear sclerotic cataract. Dilated fundus examination OS revealed a clear vitreous, 1+ pallor of optic disc but sharp margins with nasal peripapillary atrophy and cup-to-disc ratio of 0.1. The vessels were attenuated. Pallor was noted in the macular area with a cherry red spot, but no embolus was identified (Fig. 1d). The peripheral retina was flat without holes or tears.\nThe patient was diagnosed with CRAO in the left eye. He was admitted to the neurology service for a comprehensive stroke work-up. ESR and CRP were within normal limits. Magnetic resonance imaging brain without contrast revealed mild diffuse cerebral volume loss with mild chronic microangiopathic changes with no acute infarction or intracranial hemorrhage. CTA of the head and neck revealed moderate atherosclerotic calcifications with mild luminal narrowing of the right supraclinoid ICA but otherwise WNL with no large vessel occlusion. Transthoracic echocardiogram revealed a negative bubble study with normal left ventricular systolic function with estimated left ventricular ejection fraction 55-60%. Fluorescein angiography (FA) was not obtained. OCT examination of the macula in the left eye revealed foveal thinning with disruption of the inner retinal layers (Fig. 3c, d).\nAfter obtaining cardiology clearance, the patient was started on twice daily 40 mug IV PGE1 in 100 mL normal saline 0.9% infusion with each dose administered over 3 h. Within 48 h of starting the IV PGE1 infusion, VA in the left eye improved to CF. After completing 3 days of IV PGE1 infusions, the patient refused further treatment and was discharged with outpatient retina clinic follow-up. Unfortunately, the patient was then lost to follow-up.",
"gender": "Male"
}
] |
PMC10601880
|
[
{
"age": 17,
"case_id": "PMC10896245_01",
"case_text": "A male patient aged 17 years presented to the Department of Orthodontics with concerns regarding the irregular and forward positioning of his teeth in the maxillary and mandibular anterior regions, and an over-retained deciduous tooth in the maxillary left region. The patient had a non-consonant smile, with a mesoproscopic face having a convex profile, and potentially competent lips (Figure 1).",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10896245_02",
"case_text": "Upon intra-oral examination, it was found that all teeth, except for the third molars were present in both arches. The periodontal health of the patient seemed adequate, with a sufficient zone of attached gingiva. The molars had a class II relationship, and there was an overjet of 12mm (Figure 2).",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC10896245_03",
"case_text": "The results of the functional examination indicated that the patient's speech, breathing, and swallowing functions were within normal limits. Moreover, the mandibular path of closure was assessed to be normal with no indication of deviation or temporomandibular disorder (TMD). Written and informed consent were obtained from the patient for the present case report. It was recommended that the patient undergo radiological examinations to determine the orientation of the root. After a panoramic examination (Figure 3), it was observed that the individual had impacted maxillary and mandibular parapremolars and paramolars in each of the maxillary and mandibular left and right quadrants. Furthermore, the maxillary and mandibular incisors were found to be proclined. Cone beam CT (CBCT) views of all quadrants also show the impacted supernumerary teeth (Figure 4).\nTreatment plan\nThe therapeutic strategy was formulated to establish bilateral canine and molar relationships, ensuring appropriate occlusion, achieving space closure, and optimizing overjet and overbite parameters while ensuring coincident midlines. To attain these objectives, corrective measures are employed to initial alignment of teeth, alleviate crowding within both the maxillary and mandibular arches, and correct of proclination of the maxillary and mandibular incisors. The ultimate goal of this intervention is to produce a harmonious smile, enhance facial aesthetics, and achieve overall dental balance.\nWithin the framework of the therapeutic regimen, the over-retained supernumerary teeth located within both the mandibular and maxillary arches were systematically extracted after verifying the root development and assessing the condition of the permanent dentition. Given the complexities of the case, there was a requisite for a critical anchorage unit within both the upper and lower dental arches. The orthodontic approach commenced utilizing the pre-adjusted edgewise appliance (McLaughlin, Bennett and Trevisi (MBT) 0.022\", Liberal Traders, New Delhi, India) slot for optimal management and alignment. An orthodontic fixed functional appliance was employed to rectify the convex profile and address the Class II molar relationship. After the completion of the requisite adjustments, meticulous finishing and detailing procedures were executed to ensure optimal outcomes.",
"gender": "Unknown"
}
] |
PMC10896245
|
[
{
"age": 85,
"case_id": "PMC11127586_01",
"case_text": "An 85-year-old male patient was urgently admitted to the emergency department due to \"recurrent chest tightness and dyspnea for the past 20 days, with worsening symptoms in the last 11 h.\" The patient had a medical history of chronic obstructive pulmonary disease and chronic renal insufficiency. There was no documented history of diabetes, hyperlipidemia, hypertension, familial coronary artery disease, or smoking. Upon admission, the physical examination revealed a blood pressure of 125/84 mmHg, a heart rate of 87 beats/min, and prominent dry and wet rales in both lungs. Bedside cardiac markers showed elevated levels of cTNI (6.79 ng/ml), CK-MB (9.96 ng/ml), and myo (85.8 ng/ml). Bedside ultrasound revealed bilateral pleural effusion (92 mm on the right, 71 mm on the left) and a small amount of pericardial effusion. Additionally, thinning of the left ventricular posterior wall was noted. The electrocardiogram (ECG) (Figure 1) displayed sinus rhythm, incomplete right bundle branch block, and mild ST-segment elevation in leads II, III, AVF, with poor R-wave progression in leads V1-V6. The initial diagnosis upon emergency admission considered acute myocardial infarction with concomitant acute heart failure. Upon admission, emergency coronary angiography was immediately performed using a 5F angiographic catheter (Figures 2A-C), revealing a tri-ostial anomaly in the coronary arteries. The coronary artery anomalies and sites of obstructive lesions are described in the Central Illustration (Figure 3). The mid to distal segment of the left anterior descending artery (LAD) was completely occluded with chronic total occlusion, and the ostium was unclear. The left circumflex artery (LCX) appeared small without significant stenosis. The right coronary artery showed diffuse and severe lesions with moderate to severe calcification throughout its entire course, and the distal segment exhibited total occlusion, indicative of a lesion with a high thrombus burden. The right circumflex artery (RCX) was large, originating from the right sinus, with scattered plaques in the proximal and mid segments, and eccentric stenosis of approximately 90% at the bifurcation, achieving TIMI 3 flow. Then, coronary artery bypass surgery (CABG) was recommended for the patient, but he and his family rejected this recommendation, opting instead for repercutaneous coronary intervention (PCI) treatment. A 6F XBRCA guide catheter was then advanced under fluoroscopic guidance to the ostium of the right coronary artery (RCA). Following thrombus aspiration, pre-dilation with a 2.5 mm x 20 mm balloon, intracoronary drug injection, and other pre-treatments, drug-eluting stents (DES) were sequentially implanted in the left posterior descending artery from the near segment to the opening of the right coronary artery using stents sized 2.75 mm x 33 mm, 3.0 mm x 29 mm, 3.5 mm x 28 mm, and 4.0 mm x 29 mm. Post-dilation was performed using 3.0 mm x 12 mm, 3.5 mm x 12 mm, and 4.0 mm x 12 mm non-compliant balloons at pressures of 16 atm-26 atm. The final angiography showed satisfactory stent apposition with no dissection, and TIMI 3 flow was successfully restored (Figure 2D). Preoperative laboratory results indicated NT-ProBNP: 8,952 pg/ml, creatinine: 163 umol/L. Echocardiography revealed a left ventricular end-diastolic diameter (LVDd) of 55.8 mm and left ventricular ejection fraction (LVEF) of 41.7%. During hospitalization, the patient developed paroxysmal atrial fibrillation and atrial flutter. Following discharge, the patient received secondary prevention medications for coronary heart disease and anticoagulation, with plans for staged interventions on the RCX and LAD scheduled for one month later.\nOne month later, a subsequent coronary angiography (Figures 4A,B) was conducted using a 5F angiographic catheter, revealing a coronary artery quadrifurcation anomaly. Imaging suggested that the left anterior descending artery (LAD) and left circumflex artery (LCX) did not share a common opening. The mid-segment of the LAD was subtotally occluded, and the LCX was small without significant stenosis, resulting in TIMI 0 flow in the LAD. Firstly, a 6F XBRCA guide catheter was then advanced to the ostium of the RCX. Intervention was performed on the large bifurcation lesion in the RCX using a 2.0 mm x 20 mm pre-dilation balloon, a 2.75 mm x 6 mm cutting balloon, and a 2.5 mm x 12 mm post-dilation balloon. Angiography after the procedure (Figure 4C) showed no residual stenosis or dissection, and forward blood flow was successfully restored with TIMI 3. Secondly, 7F EBU 3.5 guide catheter was then advanced under fluoroscopic guidance to the left main coronary artery. Intravascular ultrasound (IVUS) examination was performed on the mid-segment to the opening of the left anterior descending artery. IVUS revealed a short left main stem, technically a tri-ostial anomaly. The mid to near segments showed diffuse fibrocalcific plaques with severe stenosis, and the mid-segment showed calcified nodules. The minimum lumen area was less than 2.0 mm2, with plaque burden of 57% at the bifurcation. Pre-dilation with 1.5 mm x 20 mm and 2.0 mm x 20 mm balloons was performed, and angiography after forward blood flow was successfully restored in the left anterior descending artery. During the procedure, the guidewire dislodged but was successfully re-advanced using an XT-R guidewire to reach the distal left anterior descending artery. IVUS examination (Figure 5A) showed a hematoma in the near segment. A drug-eluting stent (DES) measuring 2.5 mm x 18 mm and 3.0 mm x 33 mm was sequentially implanted in the mid-segment to the opening of the left anterior descending artery, followed by post-dilation with a 3.0 mm x 12 mm balloon. Postoperative coronary angiography (Figure 5B) and IVUS (Figure 5C) confirmed satisfactory stent expansion with no dissection, and the stent protruded into the left main stem by approximately 1 mm. Six months after discharge, the patient's 6 min walk test exceeded 425 m, and there were no symptoms of chest discomfort. Repeat echocardiography showed LVDd: 51 mm and LVEF: 58%. The patient's condition significantly improved, and a telephone follow-up 2 years after discharge indicated an unrestricted 6 min walk test without any discomfort symptoms.",
"gender": "Male"
}
] |
PMC11127586
|
[
{
"age": 52,
"case_id": "PMC10860505_01",
"case_text": "A 52-year-old female patient presented with a history of fever, headache, and vomiting for 2 months. Based on her symptoms and background, an initial diagnosis of CNS tuberculosis (TB) was suspected. Subsequently, a gene expert test for TB was negative, and CSF analysis revealed normal protein, sugar, and lactate levels.\nT2-weighted MRI imaging (T2WI) of the brain showed expansion of the left prepontine cistern with the subtle presence of fluid-signal intensity cystic lesions, which extended posterior to the midbrain and displaced it towards the contralateral side (Figure 1A and B). Moderate hydrocephalus was also noted. The lesions were better delineated on FIESTA images with thin septations as additional findings; these septations were not seen on T2 (Figure 1C and D). No scolex was identified, and there was no post-contrast enhancement. Based on imaging findings, a diagnosis of racemose NCC was made. The patient was put on conservative medications and is currently on follow-up.",
"gender": "Female"
},
{
"age": 10,
"case_id": "PMC10860505_02",
"case_text": "A 10-year-old boy presented to our hospital with a history of frequent headaches and seizures for 3 months and visual disturbances for 4 days. MRI brain revealed a multiloculated cystic lesion in the pineal region extending into the third ventricle with resultant obstruction (Figure 2). It was hypointense on T1 (Figure 2A) with a thin rim of peripheral enhancement on the post-contrast study (Figure 2B). T2 and FIESTA images showed a characteristic multiloculated appearance (Figure 2C and D), classically called a \"cluster of grapes\" appearance. The lesion caused a mass effect on the tectum and thalami with the narrowing of the aqueduct of Sylvius.",
"gender": "Male"
},
{
"age": 37,
"case_id": "PMC10860505_03",
"case_text": "A 37-year-old male patient has a history of frequent headaches and recurrent seizures for 2 months. MRI revealed dilatation of the extra-axial CSF spaces with septations along the inferior aspect of the corpus callosum. The third ventricle roof was displaced posteriorly into the basal cisterns (Figure 3A and B). Moderate non-communicating hydrocephalus was also noted with the normal-sized fourth ventricle. The FIESTA sequence could depict the multiseptated nature of the lesion more clearly. Contrast enhancement and diffusion restriction were absent. The patient improved on conservative management and is currently on follow-up.",
"gender": "Male"
},
{
"age": 56,
"case_id": "PMC10860505_04",
"case_text": "A 56-year-old male patient came to our hospital with a history of seizures, gait impairment, incontinence, ataxia, and forgetfulness for 5 years. Based on the presence of hydrocephalus on the previous MRI, he was treated elsewhere on the line for CNS tuberculosis. However, despite 3 months of antitubercular treatment, he showed no signs of improvement.\nA repeat MRI was done to look for an alternate diagnosis. It showed a dilated ambient cistern with indentation on the pons (Figure 4A). The lateral ventricles were markedly dilated along with dilatation of bilateral CSF spaces in the temporoparietal region with dominant involvement of Sylvian fissures (Figure 4B). On FIESTA MRI (Figure 4C and D), the lesion showed thin septations in the ambient cistern and Sylvian fissures, which strongly suggested the diagnosis of racemose NCC. Moderate hydrocephalus was also present. The patient was advised for VP shunt placement and is currently on follow-up.",
"gender": "Male"
},
{
"age": 61,
"case_id": "PMC10860505_05",
"case_text": "A 61-year-old male complaining of headaches for 3 days and fever for 2 days came to our outpatient department. He had a history of a right middle cerebral artery territory infarct in January 2020. Clinical examination was unremarkable except for a poor swallowing reflex. On T2W MRI, a hyperintense multilobulated cystic lesion was detected in the right Sylvian fissure (Figure 5A and B). It showed smooth peripheral enhancement (Figure 5C). Eccentric blooming focus representing scolex was seen on susceptibility-weighted imaging (SWI, Figure 5D). Scolex represent armed rostellum and body of cysticercus, as larvae progress through different stages scolex undergoes sequential changes and finally becomes calcified in calcified nodular stage. In addition to showing cystic lesions, the FIESTA image showed multiple thin septations in the rest of the Sylvian fissure, suggesting a more extensive involvement (Figure 5D and E). Based on imaging findings, a diagnosis of racemose NCC was suspected. He showed improvement on conservative treatment and presently is on follow-up.",
"gender": "Male"
}
] |
PMC10860505
|
[
{
"age": 17,
"case_id": "PMC10996851_01",
"case_text": "Enrico (pseudonym) was diagnosed with a rare form of childhood leukemia and he was admitted at the Pediatric Oncology Department of the Regina Margherita Children's Hospital, one of the main pediatric hospital in Italy. Socio-demographic characteristics of Enrico are: 17-years-old adolescent, he is a student, very dedicated and interested in school. He is an only child, he lives with his caregiver. Socio-demographic characteristic of his caregiver are: Enrico's mother is 45 years old, she is an educator. Enrico's father is 48 years old, he is an employee. They are married, both high school graduated. Place of residence is out of city. No significant event reported in last years. Enrico's medical treatment includes lengthy hospitalization for chemotherapy treatments and pain therapy. The course of treatment was expected to last about 2 years. Enrico and his family are offered the participation to the clinical and research psychological protocol named EMDR_ITA_PED approved by the Ethics Committee of AOU Citta della Salute e della Scienza of Turin (Prot. No. 0073656; July 2022). The protocol provides in addition to standard psychological support also the EMDR treatment. Inclusion criteria are: patient diagnosed with oncohematology disease; age range >= 12 years old; acceptance informed consent. Exclusion criteria are: patients <12 years old; no acceptance of informed consent. All procedures performed were run following ethical standards of the institutional and/or national research committee. Before the study we informed patients and families about the aim and procedure of protocol EMDR Therapy and obtained their informed consent. For the Enrico's treatment we followed the EMDR Protocol proposed by, a specific protocol for cancer focused on difficulties related to different stage of the illness. The EMDR procedure was explained and we obtained consent for the treatment. No pharmacological treatment and other type of psychotherapy were provided before. The following is a brief description of the steps that will be followed:\nPhase 1: Client history - follows the standard EMDR protocol, with an increased focus on the self-disease relationship and significance of the disease in the patient's history.\nPhase 2: Preparation - follows the standard EMDR protocol, including time dedicated to psychoeducation on pain and oncological illness.\nPhase 3: Assessment - this is the only phase different from the standard EMDR protocol. Targets are related to traumatic experience due to illness, and to concerns and current issues (surgical intervention, treatments, hospitalization...).\nPhase 4: Desensitization and reprocessing - follows the standard EMDR protocol. In this phase the role of therapist as a \"safe base\" for patients is very important.\nPhase 5: Installation - follows the standard EMDR protocol and integrates the installation of positive cognition.\nPhase 6: Body Scan - is identical to standard EMDR procedure.\nPhase 7: Closing the session - includes the imagery of health resources.\nPhase 8: Re-evaluation - follows the standard EMDR protocol.\nPsychological assessment was agreed with the EMDR Italy Association and then approved by the Ethics Committee of the AOU Citta della Salute e della Scienza of Turin (EMDR_ITA_PED, Prot N. 0073656). The protocol provides an examination and assessment of each patient before the treatment in order to evaluate the appropriateness of the treatment and after the treatment in order to verify the effectiveness. Selected outcomes were collected at the beginning of the EMDR protocol (Time 0), and at the end of the protocol (Time 1), through the administration of some test. The first is the Impact Event Scale-Revised (IES-R), that is a 22-item self-report scale that measures subjective exposure to traumatic experiences with satisfactory values of internal consistency (overall Cronbach's alpha for the total IES-R was 0.94). The questionnaire requires to participant the naming of a specific stressful life event and then to indicate how distressed they have been by each listed stressful life event in the past 7 days on a 5-point scale. The other test we propose at Time 0 is the Distress Thermometer, a screening tools for measuring distress on a range 0-10 point Likert Scale. This scale includes also 4 sub-scale screening following problems: practical, family, emotional, physical, and spiritual. At Time 1 we proposed the same screening test as in Time 0 with the addition of the Post-Traumatic Growth Inventory Test composed by 21 items to assess positive outcomes reported by subjects who have experienced traumatic events using a scale ranging from 0 to 5. A higher score indicates a higher level of posttraumatic growth. Results about Enrico's assessment at Time 0 are: 8 at the Distress Test and more problems on a subscale of Emotive and Physical problems. At IES-R test results shows high scores on a subscale of Intrusion (= 3 on a range 0-4) and moderate symptoms in other subscale (Avoidance = 2,6 Hyperarousal = 2,75 on a range 0-4).\nThe EMDR protocol stared with Enrico immediately after the diagnosis communication. The intervention was proposed by the psychologist of the Pediatric Oncology Department, trained in the use of the EMDR method and supervised by the EMDR Italy Association. We proposed EMDR therapy also to his caregiver. Enrico's mum started EMDR therapy at oncological diagnosis but her psychotherapeutic course was not continuous. She continued to work and only on a few occasions accompanied E. to inpatient care. His father never expressed the need for psychotherapeutic support, but we only worked with him at a first level of intervention. Table 1 explains the specific content of EMDR intervention's phases and Figure 1 shows the stages and process of EMDR protocol by highlighting also some important time points of Enrico's course of treatment.\nInitial meetings with E. were focused on creating a therapeutic alliance. He was open to talking about his feelings of anger, mood changes and frustration. At an early point, E. reported specifically worries about schooling for the future months. In Italy, patients undergoing treatment cannot attend school due to the risk from the immunosuppression effect of oncology treatment. However, we proposed that E. participate in our Hospital School during treatments. Enrico cared a lot about school and while very organized he felt extreme fatigue during cancer treatment. He was afraid he would be unable to keep up with his studies, leading to significant anxiety. In order to not fall behind, he was forced to give up time usually devoted to his hobby and passion for music, and this created strong frustration in him. He shared that he often felt angry and volatile and no longer recognized himself. Enrico feared losing control. His caregivers appeared to be having some difficulties managing this situation, especially his mother.\nIdentifying a patients' needs is part of phase one, through a good therapeutic alliance, and to reinforce emotional coping skills to restore to the patient a sense of self-efficacy and hope, safety and network support. E. needed help with his anxiety and feelings of not being able to do everything. His principal need was to recover his sense of efficacy to feel able to fight the situation. We used a psychoeducation intervention to explain the connection between his feelings and the oncological illness to help strengthen his sense of control of the events. We proceeded with the installation of a safe place for these purposes. E. chose the image of an isolated mountain lodge immersed in the green of nature connected to the word and feelings of well-being. With the aim of strengthening the self-help ability of E., we proceeded with resource installation. E. was feeling severely distressed by the disease and related physical changes leading to him feeling weak, incapable, tired, and defenseless. During Resource Development and Installation (RDI), E. identified three episodes when he felt confident after playing a concert. He reported that after overcoming a challenge during the concert he felt happy and relaxed. The first episode he referred to was a concert in which he performed with 3 other people. He was very anxious but it was a great experience; he was satisfied with his performance, he felt capable. He connected this memory with the words I'm capable. The second episode was a final exam at school, \"the first big hurdle to be faced\" for him: He described working hard despite his fear; his strength helped him and he was able to persevere and achieve success. He connected this memory with the words I can do it. The third episode of confidence was a relational resource: the relationship with his best friend. E. felt relaxed, safe, happy and carefree. With his friend he was able to stop worrying and he felt free. We used RDI to install a memory of a chess match when they laughed and he felt serene. E. connected these memories with the word joy.\nIn this phase, dedicated to target selection, E. had to define clusters related to trauma connected with the experience of cancer illness. We asked him to identify the event and formulate a negative belief about himself (NC). The choice of target was a delicate moment for E. because in this phase he was suffering due to his treatment and medicine; he suffered from anxiety and, especially at night, he had severe crying fits, breathing difficulties, and moments of strong anger that his mother tried to help him contain. In the morning he was quieter so we could work on his traumatic memories. During the search for triggers, he remembered the initial moments of his arrival at the hospital, starting with communication of the diagnosis when the doctor told him what his treatment would be. The traumatic imagines he evocated: the oncologist at the door ready to go out while he remained still in the bed, and himself after the doctor went out, crying and banging his fist against the pillow. He chose the first worst images to be connected with the negative cognition I am helpless. His emotions were anger, frustration, and a strong weight on the chest. Positive cognition was I can do it. Perceived validity (VOC) = 3, Subjective Units of Disturbance Scale (SUD) = 8.\nIn this phase, we invited E. to undergo desensitization through Bilateral Stimulation (BLS). This is a delicate phase for patients, where a trusting relationship and therapeutic alliance are very important. E. used two sessions for this phase. Each session took 6 sets (using the wireless kit). During the first session, he reported a more vivid memory from which the mind tried to detach itself and return to its worst image, with the mind trying to escape (Now the memory is more vivid; I'm a little more troubled, weighed down; my mind was trying to detach, random images...happy moments, the image is heavy; When I thought about anger, the image of me banging my fists against the pillow came back; Nothing new; My mind tried to escape). At the end of the session, he reported SUD 8 and VOC 4. At the beginning of the second session, we verified that the SUD was 7 and VOC 5. After BLS, E. struggled to visualize the image and also the memory, which appears more blurred. The initial anger had turned to sadness. He was still struggling to relax (Nothing, it seems less strong, I visualize it less; I struggle to visualize the memory, everything; I feel bitterness, sadness, it brings me back to the fact that I'm here, it's nothing new, I do not feel anger; I cannot focus on the memory, I'm not really relaxed right now). At the end, the recorded SUD was 3 and VOC was 5. He said: I realize actually, not...about the situation, but about the treatment, having to be here; My mind is not at all vulnerable today. At the end of the last BLS, SUD was 1 and VOC was -7. The minus figure is because in fact I have to stay here and that makes me think a little bit.\nHaving reached SUD 1 and VOC 7-, accepting that minus as important but not a limitation to processing, we installed the positive cognition chosen and confirmed I can do it despite everything. The feedback during the installation was positive. E. felt stronger and more appreciative of his own skills.\nIn recalling the event and focusing on PC, we focused on his body sensations to check for unpleasant sensations indicating distress. In this phase, we did not meet any obstacles and therefore proceeded with the BLS. E. was completely free of somatic tension or unpleasant feelings, instead feeling relaxed.\nAt this stage, when the session was complete and having ascertained that E. was in a safe emotional condition, we proceeded with a relaxation technique achieved through breathing and returning to the safe place.\nIn this final phase, E. did not make any reference to dreams or meaningful thoughts. In this first phase of cancer treatment, we focused our attention on the diagnosis communication, but significant moments of the illness were also monitored in order to continue an instantaneous processing of the traumatic event.\nTable 2 shows the results of the EMDR Protocol between the two waves and the reduction of the stress symptoms in the patient at Time 0 and at Time 1. Results highlight at Time 0 high mean scores and close to the value for the presence of PTSD symptoms (Mean >= 3 on a range 0-4). Subscale that showed more important emotional activation at Time 0 is the Subscale of Intrusion (Mean = 3); Between Time 0 and Time 1 there is a reduction in emotional impact in all Subscales but especially in the Subscale of Intrusion (Delta1,4). Distress Thermometer shows high scores at Time 0 (=8) that decrease significantly at Time 1 (=4). On a Scale of Problem List, emotive problems are those most frequently reported at Time 0 (=6/6) and decreasing at Time 1 by half (=3/6). Furthermore, at Time 1 through the administration of the Post-Traumatic Growth Inventory, E. refers to perceive himself stronger and to have cultivated new interests (= 5).",
"gender": "Male"
}
] |
PMC10996851
|
[
{
"age": null,
"case_id": "PMC10799216_01",
"case_text": "An early 80s-year-old woman was referred to our hospital because of dyspnea and dysphagia after falling. She stumbled and fell while getting up, hit her head on a door, and landed her neck in a dorsiflexed position. She denied loss of consciousness at the time of the fall. Her medical history included a stroke 3 years prior to presentation, and she was administered 100 mg of aspirin daily. Her vital signs revealed: body temperature, 36.1 C; blood pressure, 131/63 mmHg; pulse rate, 87/min (regular); respiratory rate, 20/min; and SpO2 98%. Physical examination showed swelling in the right cheek and bilateral chest tenderness. The patient's hemoglobin level was 10.8 g/dL. Chest radiography revealed a right-sided hemothorax (Figure 1). Contrast-enhanced chest computed tomography (CT) revealed bilateral pleural effusions, a mediastinal hematoma compressing the trachea and dorsal esophagus, and a paratracheal hematoma at the level of the azygous vein (Figure 2). No apparent damage to the arterial system was observed. Spine CT revealed lumbar compression fractures. Upper gastrointestinal endoscopy revealed anterior esophageal distention without mass lesions or bleeding in the esophagus. The patient was diagnosed with a mediastinal hematoma due to traumatic injury to the azygous vein. Aspirin wad discontinued after admission. On the night of the injury, she experienced oxygen demand, suspected to be due to an increase in right hemothorax. After the injury, the mediastinal hematoma tended to shrink and the anemia did not improve; however, the right hemothorax increased for approximately a week. Nevertheless, the patient did not require intercostal tube insertion because the oxygen requirement did not increase. Three days after injury, her dyspnea and dysphagia improved. By the third post-injury day, the patient no longer required supplemental oxygen. However, her discharge from the hospital was delayed by 2 months due to lumbar compression fractures.\nGenerally, azygos vein injury presents with mediastinal enlargement, pleural effusion (hemothorax), delayed pleural effusion on chest radiography, hemothorax on right chest drainage, and blood leakage on contrast-enhanced CT. Diagnosis was based on the presence of mediastinum enlargement and late-onset pleural effusion secondary to an episode of trauma. The azygous vein is positioned on the right side of the thoracic vertebrae in the posterior mediastinum. At the level of the fourth thoracic vertebra, the azygos vein arches around the right bronchus from behind and above before entering the superior vena cava. This anatomical positioning explains the predominance of a right-sided hemothorax when the azygos vein is injured. In blunt thoracic trauma, azygous vein injury is usually a result of sudden decelerating forces, such as those from motor vehicle accidents or falls. Rupture of the azygous vein may result from abrupt deceleration applied to the mobile azygous arch, which can initiate shearing forces within the thorax. Additionally, associated anterior dislocated fracture of the upper thoracic vertebrae in the proximity of the azygous vein may contribute to venous disruption. This may have been the mechanism of injury in our patient, who also sustained a stable thoracic vertebral body fracture. When comparing treatments, the mortality rate for those who underwent thoracotomy was only 31%, which highlights the importance of urgent surgery in these patients. In many cases where emergency surgery is required, the patient's hemodynamics are unstable, making it impossible to perform a CT scan, and damage to the azygos vein becomes apparent during surgery. Published research reports only one case of successful conservative management of a presumed azygous laceration where diagnosis was made based on a CT scan demonstrating a right paratracheal hematoma at the level of the azygous vein. Intravascular stents or grafts commonly treat vascular injuries, yet survivors of azygos vein injury often undergo emergency thoracotomy and ligation, typically due to preoperative shock.",
"gender": "Female"
}
] |
PMC10799216
|
[
{
"age": 6,
"case_id": "PMC10917479_01",
"case_text": "A baby girl was born at 24 weeks gestation with a weight of 703 grams and had experienced a range of expected prematurity sequelae that included respiratory distress syndrome and grade 2 intraventricular hemorrhage (IVH). She had an umbilical venous catheter inserted at birth for venous access and to provide total parenteral nutrition but no umbilical arterial catheter nor arterial cannulation were attempted, particularly in the affected arm/hand. At the age of 6 days, she developed gradual mild bluish discoloration affecting mainly the second, third, and fourth fingers of her right hand, and despite initial management with warm compression and other conservative steps, the discoloration persisted and even worsened (Figure 1). There were no attempts at peripheral venous cannulation in the affected arm or hand.\nThe urgent Doppler study revealed a mild reduction in blood flow in the radial and ulnar arteries of the affected hand, although it remained patent. Therapeutic anticoagulation was considered in consultation with the hematology service but ultimately not started due to the presence of a recent intraventricular hemorrhage (IVH) and the absence of a clear thrombus. The managing team initiated treatment using a nitroglycerin patch placed over affected hand fingers. 4 cm2 nitroglycerin patch was used, as every 1 cm2 of application delivers approximately 0.026 mg of nitroglycerine per hour. The 4 cm2 strip was replaced every 12 hours for the next 5 days. The baby was monitored for the known side effects that include methemoglobinemia subsequent to the use of the GTN patch and hypotension, which luckily were not observed during the 5 -day treatment.\nWithin a few hours after the application of the topical nitroglycerine patch, a noticeable gradual improvement was observed until the ischemic changes markedly improved over the next 5-7 days (Figure 2). The affected hand fingers ischemic changes continued to improve until complete resolution 4 weeks later (Figure 3).",
"gender": "Female"
}
] |
PMC10917479
|
[
{
"age": 67,
"case_id": "PMC10867158_01",
"case_text": "A 67-year-old male patient presented with intermittent epigastric pain persisting for a decade. Throughout this period, there were no signs of fever or jaundice. He was admitted to our hospital following an abdominal CT scan indicating right intrahepatic bile duct dilatation and presence of gas within it. Twelve years earlier, he had been diagnosed with gallbladder stones, underwent open cholecystectomy at an external hospital, and was discharged post-surgery without complications. His personal, marital, and family medical history were unremarkable. On physical examination, his temperature was 36.2 C, pulse 76 beats/min, respiration 20 breaths/min, and blood pressure 99/59 mmHg. No jaundice was evident, and cardiopulmonary auscultation revealed no abnormalities. A 10-cm surgical scar was noted in the right epigastrium, with the entire abdomen exhibiting softness, absence of tenderness, rebound pain, muscle tension, or palpable masses. Routine blood tests, liver and kidney function, electrolytes, and tumor markers showed no abnormalities. Upper abdominal imaging [magnetic resonance imaging (MRI) + magnetic resonance cholangiopancreatography (MRCP)] revealed narrowing of the right hepatic duct, suspected choledocholithiasis in the confluence area of the right liver lobe, significant bile duct dilation in the right liver lobe, a low confluence of the right hepatic duct into the common bile duct and close adhesion of the right hepatic duct to the duodenum. Three-dimensional biliary tract reconstruction displayed stenosis at the onset of the right hepatic duct, dilation of the right intrahepatic bile duct, with no anomalies in the left hepatic duct and common bile duct (Figure 1). Based on the patient's medical history and imaging, the diagnosis was right hepatic duct stenosis and a right hepatic duct-duodenal fistula. An open laparotomy was performed, revealing the right hepatic bile duct adhered to the duodenum, with a firm fibrotic sinusoidal tract. Upon incision and exploration, the sinusoidal tract was found to connect the right bile duct and duodenal lumen, confirming the presence of a right hepatic duct-duodenal internal fistula (Figure 2). Cryopathological analysis of the excised sinusoidal tract tissue indicated inflammatory changes. Cholangioscopic examination of the right intrahepatic tertiary bile duct exhibited notable dilation, chronic inflammatory reactions in the bile duct wall, and flocculent bile sludge, suggesting chronic obstruction of the right hepatic biliary tract and impaired bile drainage. Consequently, the patient underwent resection of the stenotic right hepatic duct, right hepatic duct-jejunum Roux-en-Y anastomosis, and repair of the duodenal fistula. Removal of the gastric tube occurred on the third postoperative day, followed by a transition to a liquid diet. Discharge from the hospital took place 7 days post-operation, and the patient reported no abdominal pain upon discharge. After 1 month post-surgical procedure, a follow-up MRI + MRCP exhibited alleviation of right intrahepatic bile duct dilation (Figure 3). Additionally, the patient's clinical symptoms of abdominal pain had completely resolved.",
"gender": "Male"
}
] |
PMC10867158
|
[
{
"age": 61,
"case_id": "PMC10874467_01",
"case_text": "A 61-year-old male patient, originally from Nigeria with a medical history of hypertension and uncontrolled diabetes mellitus, presented to the emergency department in the United States. He complained of persistent right upper quadrant abdominal pain, which radiates to his back, and he also noticed a darkening of his urine color. The patient had no recent symptoms of nausea, vomiting, or diarrhea, nor had he traveled outside the United States in the past two years.\nUpon examination, he had tachycardia (117 bpm), fever (100.8 F), conjunctival icterus, and tenderness in the right upper quadrant. Laboratory tests showed elevated liver enzymes (alanine aminotransferase [ALT], aspartate aminotransferase [AST], and alkaline phosphatase), high levels of total and direct bilirubin, and anemia (hemoglobin [HGB] at 10.9) (Table 1). Diagnostic imaging included an abdominal ultrasound revealing a large complex cystic lesion in the right lobe of the liver, measuring 14.39 cm x 6.55 cm (Figure 1). A computed tomography (CT) of the abdomen and pelvis further characterized this lesion as measuring 13.93 cm x 9.17 cm, suggestive of a significant liver abscess (Figure 2).\nInitially, the patient was treated with cefepime (2 g IV every 12 hours) and vancomycin (1 g IV every 12 hours) for three days. After reviewing the CT scan results, the treatment regimen was switched to ceftriaxone (2 g IV every 24 hours) and metronidazole (500 mg IV every eight hours). Consultations were made with the General Surgery, Infectious Disease, and Interventional Radiology teams. The Interventional Radiology team conducted a CT-guided drainage of the hepatic abscess, during which a 10-French drainage catheter was inserted (Figure 3). Following the drainage, there was a significant improvement in liver function. The total bilirubin levels reduced to 0.8 mg/dL from 1.4 mg/dL, alkaline phosphatase decreased to 290 U/L from 587 U/L, and the ALT/AST levels improved to 53/49 U/L from 245/202 U/L, all observed on the fifth day of hospitalization.\nDuring a subsequent CT scan, an incidental finding of a pulmonary embolus was detected in the right lower lobe, with no discernible origin. Liver ultrasound Doppler showed no indications of thrombosis in either the hepatic or portal veins. Consequently, the patient was instructed to take apixaban at a dose of 5 mg every 12 hours for six months to treat the unprovoked PE.\nThroughout his hospitalization, the patient's blood glucose levels remained elevated (250-300s), requiring management with both long-acting and short-acting insulin. A peripherally inserted central catheter (PICC line) was also placed in the right upper arm for ongoing intravenous (IV) treatment. He was discharged from the hospital with the drainage catheter in place and scheduled for outpatient follow-ups in surgery and infectious diseases clinics.\nThe Infectious Disease team advised continued IV ceftriaxone (2 g IV every 24 hours) and metronidazole (500 mg IV every eight hours) through the PICC line for four weeks, with routine laboratory monitoring and scheduled outpatient CT scans. The abscess was later identified as amebic in origin after the serological testing came back positive for E. histolytica, leading to the addition of paromomycin (1,000 mg every eight hours) for seven days to the treatment regimen. A CT scan three months after treatment showed a near-complete resolution of the hepatic abscess (Figure 4).",
"gender": "Male"
}
] |
PMC10874467
|
[
{
"age": 61,
"case_id": "PMC10547571_01",
"case_text": "Most participants (51%) were male, and 69.8% were married. Age ranged from 22 to 61 years old, and the mean age was 33.73 +- 7.74 years old. The most common educational level of the participants (57%) was a bachelor's degree, and the mean occupational experience was 5.81 +- 5.04 years old.\nOne hundred forty-three had no experience with telemedicine programs, and six had telemedicine experience. The most frequent sources of information about telemedicine are colleagues (40.3%), continuing education (24.7%), and social media and the internet (10.1%). Other sources include articles (9.2%), workshops (7.8%), formal education (5.5%), and conferences (2.4%).\nAwareness of telemedicine in healthcare workers is low (2.6 out of 5), and it did not significantly relate to gender, age, marital status, or work experience, but awareness of physicians and midwives is higher than other groups (p < 0.05). The awareness of healthcare workers using continuing education, articles, workshops, or conferences was significantly higher (p < 0.05) (Table 1).\nThe Mann-Whitney test did not show a significant difference between the average scores of attitude and awareness based on marital status and gender (p = 0.16 and p = 0.37 for marriage and p = 0.69 and p = 0.19 for gender).\nSpearman's test did not indicate a significant relationship between work experience or age in the knowledge and attitude scores (p = 0.42 and p = 0.1 for work experience and p = 0.62 and p = 0.99 for age.)\nThe attitude scores for most questions are above 3.4 and reflect a positive attitude about telemedicine. Attitudes did not show a significant relation to gender, age, marital status, or work experience (Table 2). The more familiar employees are with computers and information technology, the more positive their attitudes towards telemedicine's impact on improving clinical decisions and follow-up and reducing medical errors, and they make a more positive assessment of their organization's readiness (p < 0.05).",
"gender": "Male"
}
] |
PMC10547571
|
[
{
"age": 4,
"case_id": "PMC10601797_01",
"case_text": "In 1990, sibling 1, a four-year-old boy was sent for electrophysiological examination to our laboratory because of nystagmus and photophobia. LCA was diagnosed based on the non-recordable ffERG. Four years later, in 1994, we could not perform the follow-up examinations, as the vitreous was hazy in both eyes, which also deteriorated visual acuity to a serious extent. Steroid therapy was initiated with parabulbarly administered betamethasone. Three weeks later, after the third injection, the vitreous was clearer, and the visual acuity improved from 1-m finger counting (in both eyes) to 3-m finger counting in the right eye and to 0.1 in the left eye.\nWe used visual evoked potentials with flash stimulation (FVEPs) to monitor the changes in the patient's visual function objectively. Pattern stimulation VEP (PVEP) was not performed as it would have required better visual acuity. As expected, the FVEPs were subnormal and hardly recordable in the right eye but fairly good and reproducible in the left eye.\nWe started Etaretin (0.5 mg/1 mL, intramuscular injection; Etapharm GmbH) treatment, containing vitamin A, retinal phosphatides, and sodium bicarbonate. Etaretin was administered for five consecutive days twice a year until 2005. The therapy appeared to be effective: nystagmus was decreased, and the visual acuity of the patient improved. Etaretin was not available after 2005; thus, we had to switch to Difrarel E (50 mg anthocyanin extract from Vaccinium myrtillus and 50 mg tocopherolum aceticum tablet, Leurquin Mediolanum Laboratoires, France). The same transient beneficial effects were seen as with Etaretin. However, in 2007, at the age of 21, the visual acuity of his right eye started to decrease rapidly, and by 2009, visual acuity was not measurable anymore in this eye. Light perception was maintained. Visual acuity in the left eye started to deteriorate as well (Fig. 1a), and, by 2015, only the ability to detect hand movements remained, and visual field was not detectable. The course of worsening was objectively detected by FVEP: at his age of 16, FVEP was non-recordable on his right eye, and only some residual signal was found in his left eye (Fig. 2a).\nThis patient's sister (sibling 2) was born in 1993. She also started to exhibit the same visual symptoms as her brother. Her first examination occurred in 1999, at her age of 6. At that time, her visual acuity was 0.15 (right eye) and 0.08 (left eye) with correction (-1.5 D). The FVEP was recordable, but its amplitude decreased progressively (Fig. 2b). ffERG proved the inheritance of LCA. At the age of 10, kinetic perimetry indicated a narrowing of the visual field to 10 in the right eye and to less than 15 in the left eye. The mfERG revealed seriously affected central cone function, reflecting a \"patchy\" pattern of degeneration, which means that there were some rather good kernels (responses), and also completely extinguished ones in the central 30 of the retina (Fig. 3). Her visual acuity gradually worsened to 0.01 (right eye) and to 0.02 (left eye) by the age of 23 years (Fig. 1b).\nGenetic testing of the family became possible in 2019. A new variant (NM_000329.2) c.{442G>A};{442G>A} (p.{Glu148Lys}; {Glu148Lys}) of the RPE65 gene was identified by exome sequencing. It was found that the same mutation of the RPE65 gene was present not only in the siblings in homozygous form but also in the parents in heterozygous form, suggesting that this was a biallelic mutation. Family tree research revealed that four generations earlier, a consanguineous marriage occurred in the family.",
"gender": "Male"
},
{
"age": 35,
"case_id": "PMC10601797_02",
"case_text": "Genetic treatment was performed on both patients in the form of submacular injection of 0.3 mL Luxturna, 1.5 x 1011 vector genome at the Sveti Duh Hospital in Zagreb, Croatia, by Mirjana Bjelos in October 2021. For sibling 1, the treatment was restricted to the left eye since the right eye showed only light perception. His left eye could detect hand movements; therefore, improvement in visual acuity could be expected. Unfortunately, the patient was already 35 years old at that time, but genetic became had not been a possibility earlier. Two weeks after the treatment, his visual acuity was already 0.08, and vision-guided ambulatory navigation became possible for him. The FVEP also showed a marked positive component that emerged from the noise level. The N1-P1 amplitude showed a marked increase from 0.08 muV to 1.88 muV (Fig. 2c).",
"gender": "Male"
},
{
"age": 28,
"case_id": "PMC10601797_03",
"case_text": "Sibling 2 was 28 years old when she received genetic treatment, and her visual acuity was only 0.025 before the treatment. Two weeks after the treatment, her visual acuity improved to 0.14. The improvement was detectable also in the FVEP: the N1-P1 amplitude increased from 0.39 muV to 4.02 muV (Fig. 2d). However, OCT did not show any change. The CARE checklist has been completed by the authors for this case report, attached as online supplementary material (for all online suppl. material, see https://doi.org/10.1159/000530086).",
"gender": "Female"
}
] |
PMC10601797
|
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