cases
listlengths 1
37
| article_id
stringlengths 8
11
|
|---|---|
[
{
"age": 36,
"case_id": "PMC9584726_01",
"case_text": "A 36-year-old male patient, middle eastern descent, presented with left elbow swelling, persistent pain, and gradual restriction of range of elbow motion for 8 months. Prior to that, he had visited a series of other facilities and had an open biopsy, done in another facility, which had already confirmed the diagnosis of PVNS. There was no history of injury or trauma, and his past medical history was uneventful.\nPhysical examination showed a healed scar from the open biopsy on the extensor side of his left elbow. The range of motion was restricted from 5 degrees of extension to only 90 degrees of flexion, (FE: 90.5.0), in comparison to the contralateral side with 0-degree extension to 140-degree flexion (FE: 140.0.0). Pronation and supination were free, he did not have any signs of ligament instability, and his neurovascular status was normal.\nRadiographs were normal, and MRI revealed a soft tissue tumor in the anterior joint compartment with extension to the olecranon fossa and the radiocapitellar joint, with the signal intensity consistent with PVNS. There were no osteolytic lesions or osseous erosions visible on MRI.\nAs the suspected diagnosis of PVNS was already confirmed via biopsy, elbow arthroscopy, tumor excision, and synovectomy were indicated.\nUnder general anaesthesia, the patient was positioned in prone position with the left elbow supported and free for mobilisation. Tourniquet was not used. Under routine antibiotic coverage and surgical site preparation, anteromedial, anterolateral, posterolateral, and posterior portals were established. The anterior compartment was addressed first. Arthroscopic exploration showed a large soft tissue tumor, exactly as the MRI demonstrated, with the typical appearance of a nodular form of PVNS (Figure 1). The synovium showed a diffuse form of PVNS. Firstly, we removed the tumor-like nodules, followed by total synovectomy, which was performed with an arthroscopic shaver and with a radio frequency ablation device to keep bleeding to a minimum. The joint cartilage showed grade 2 changes on the distal humerus as well as on the radial head. The annular ligament was intact. After the anterior compartment was finished, the posterior compartment was addressed in a similar manner. There was some scar tissue which needed to be debrided first due to the open biopsy that had been done previously. Then, a total synovectomy was performed in the same way as for the anterior compartment. A drain was put in the anterior compartment, the wounds were closed, and the arm was immobilised in a sling for comfort.\nThe postoperative course was uneventful; rehabilitation was initiated in the first week after a few days of rest, focusing on gain of passive and active range of motion. The patient presented with a little pain but showed local swelling that persisted for two weeks. Range of motion was near normal at the end of the sixth week postoperatively (Figure 2). At the most recent follow-up six months postoperatively, the patient was pain free and had regained full range of motion, and the follow-up MRI did not reveal any recurrence (Figure 3).",
"gender": "Male"
}
] |
PMC9584726
|
[
{
"age": 56,
"case_id": "PMC7226668_01",
"case_text": "A 56-year-old female was referred to hospital by her dentist with a 3-month history of right sided facial swelling. This had been slowly increasing in size and was associated with intermittent paraesthesia to the lower lip and tongue. Only mild pain was reported, satisfactorily relieved by paracetamol and ibuprofen when needed. Her general medical practitioner (GP) had previously prescribed a course of antibiotics that had not improved the facial swelling.\nHer medical history was remarkable only for hypertension and anxiety, for which she was taking lisinopril and citalopram respectively. She was on no other regular medication and had no known allergies. She was a current smoker on presentation. She denied any weight loss or reduction in appetite. Her past medical and family history were otherwise insignificant.\nExamination showed a marked right-sided swelling (Fig. 1). The lesion was tender to palpate and, despite it being firm and fixed, there were no overlying skin changes. The swelling extended 4 cm laterally and was associated with a reduced mouth opening of 28 mm (inter-incisal). Intraorally, it was also tender to palpate the external oblique ridge and adjacent teeth. Facial and trigeminal nerves appeared intact.",
"gender": "Female"
}
] |
PMC7226668
|
[
{
"age": 82,
"case_id": "PMC7269521_01",
"case_text": "An 82-year-old man presented with cough and weakness and admitted to our clinic. His body temperature was 380 C, heart rate 93 beats/min, respiratory rate 22 breaths/min, blood pressure 100/60 mmHg, and oxygen saturation 86% (oxygen mask 5 L/min). His blood leukocyte, neutrophil, lymphocyte, D-dimer, fibrinogen, c-reactive protein, ferritin, and procalcitonin levels were 8.56 x 103/microL, 7.4x103/microL, 0.62x 103/microL, 2304 ng/mL, 638 mg/dL, 183 mg/L, 720 ng/mL, and 0.2 ng/mL, respectively. Computed tomography of the thorax revealed a suspected diagnosis of coronavirus disease (COVID-19) (Figure 1). Antiviral (Favipavir 2 x 1600 mg loading, 2 x 600 mg maintenance) and antibacterial (levofloxacin 500 mg/day) therapies were initiated. The patient's oronasopharyngal swab specimen was positive for severe acute respiratory syndrome coronavirus 2 nucleic acid. Weakness and loss of muscle tone developed in the left arm on day 3 of treatment. Brain diffusion magnetic resonance imaging showed multiple advanced stage infarctions (Figure 2). Enoxaparin 0.5 mg/kg once every 12 hours and acetylsalicylic acid 100 mg 1x1 were added to treatment. The laboratory parameters improved. The patient was discharged on day 20.\nCOVID-19 can result in cerebral infarction and death in the elderly . Anticoagulants are useful in elderly patients with high D-dimer due to the risk of coagulation dysfunction and cerebral infarction. Thromboembolic complications must be considered in COVID-19 patients with known risk factors and abnormal laboratory findings.",
"gender": "Male"
}
] |
PMC7269521
|
[
{
"age": 14,
"case_id": "PMC3585775_01",
"case_text": "On February 11, 2011, a 14-year-old male initially presented with pain in the right thigh muscle without trauma and was subsequently found to have purely osteosclerotic lesions of the skull, vertebrae, ribs, bilateral and nearly symmetric proximal humerus, pelvis, ilium, sacrum, proximal and distal femurs, and proximal tibiae (Figs. 1 and 2). The lesions were particularly evident in the right distal femur (Fig. 3). Laboratory tests revealed hypocalcaemia, elevated parathyroid hormone, alkaline phosphatase (ALP), and lactic dehydrogenase (LDH) (Table 1). A lumbar intervertebral disc protrusion was also found by computed tomography (CT). \nA blood gas analysis, repeated twice, showed a mild generation of acid; however, other laboratory values were all within normal ranges. The detected levels of serum phosphorus, 24 h urinary calcium and phosphorus, and parathyroid hormone are shown in Table 1. The level of 25-hydroxy vitamin D was 9 pg/mL (normal range: 10-55 pg/mL), while the level of 1, 25-dihydroxy vitamin D was 130 pg/mL (normal range: 15-90 pg/mL). The bone mineral density (BMD) analysis was 0.5% lower than that typical of adolescents of a similar age. Analyses of thyroid, parathyroid, abdominal B ultrasonography, double-lower extremity arteriovenous color Doppler, and echocardiography were all normal.\nThe clinical presentation was initially controlled by Celebrex, and the differential diagnosis prior to biopsy included hyperparathyroidism, Paget's disease (teenager's type), osteopetrosis, melorheostosis (leri) (variant type), skeletal fluorosis, Erdheim-Chester disease, and osteosarcoma. Serum calcium levels continued to decrease after treating the patient with chewable vitamin D tablets (200 U/day), calcitriol soft capsules (0.75 microg/day), Celebrex (200 mg/day), and intravenous (i.v.) Aclasta (5 mg/day). Since the treatment regimen alleviated the muscle pain, the patient was voluntarily discharged on March 19, 2011, despite persistent hypocalcemia. After discharge, the patient gradually developed numbness and weakness of both lower limbs with subsequent dysuria. On March 30, 2011, he was admitted to the department of orthopedics at our hospital. Physical examination showed that the patient had a positive straight leg raise test in the lower extremities of both appendages, hypopselaphesia below the navel plane, and class III-V muscle strength in both lower limbs. Hypocalcemia was again identified by laboratory tests, while the hemoglobin, white blood cell count, platelet count, blood urea nitrogen, serum creatinine, aspartate aminotransferase (AST), C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and albumin were all within normal ranges. The magnetic resonance imaging (MRI) revealed a tumor compressing the fifth thoracic spinal cord. An x-ray of the lungs was normal.\nAn open bone biopsy was performed on the bilateral distal femora and proximal tibiae, and four foci were found that exhibited mid-grade osteoblastic osteosarcoma (Fig. 4). Based on the imaging, pathology findings, and clinical manifestation, a diagnosis of MOS was ultimately established (synchronous MOS). Following administration of neoadjuvant chemotherapy with a first cycle of methotrexate (MTX), pirarubicin (THP), and ifosfamide (IFO), the serum calcium level returned to normal, although the clinical symptoms continued to progress. A CT scan of the lung showed no signs of tumor metastases. In comparison to the previous MRI (Fig. 5B and C), the number of lesions had increased and the tumors in the spinal canal were amplified after the neoadjuvant chemotherapy (Fig. 5A). Due to the progression of clinical symptoms after chemotherapy, the patient's parents made the decision to discharge the patient from hospital. At the 4-month follow-up, which was conducted by telephone, we determined that the patient's symptoms had continued to deteriorate, and the patient died 15 months after diagnosis.",
"gender": "Male"
}
] |
PMC3585775
|
[
{
"age": 60,
"case_id": "PMC7248319_01",
"case_text": "A 60-year-old man with hyperlipidemia and with no history of hypertension, diabetes, or heart disease boarded the cruise ship 16 days before it went into quarantine. He noticed fever (day 0), RT-PCR positive was observed on day 4, and he was admitted to our hospital on day 7. His family members that had been in close contact with him tested negative. On admission, he had a fever and cough but had no difficulty in breathing. The physical examination showed no abnormalities. The results of blood examination were as follows: white blood cell (WBC) count 6,900/muL, lymphocyte count 1,056/muL, sodium level 131 mmol/L, C-reactive protein (CRP) 4.45 mg/dL.\nFollowing continuous fever for 7 days, on day 13, oxygen saturation suddenly decreased to 88% at room air without any obvious symptoms such as dyspnea. We started oxygen inhalation, which had to be increased. Chest X-ray demonstrated infiltrative shadows at the bilateral lower lung, and chest computed tomographic (CT) scan revealed bilateral ground-glass opacity (GGO) and a crazy-paving appearance, and we diagnosed him with COVID-19 pneumonia. Blood examination showed a slight elevation of WBC count, with decreased absolute lymphocyte counts, hyponatremia, hiper-ferritinemia, and a high CRP level: WBC 7,900/muL, lymphocyte 711/mL, sodium level 132 mmol/L, Ferritin level 866 ng/mL, CRP 12.21 mg/dL. Due to the abrupt oxygen requirement, which had to be increased, and the results of the CT scan, Lopinavir/Ritonavir was started on day 13. Simvastatin 50 mg once daily for hyperlipidemia was switched to pravastatin due to contraindication of simvastatin during treatment with LPV/r. The body temperature and oxygen requirement decreased and lymphopenia normalized within 2 days, followed by improvements in other measures. Chest-CT images showed that subpleural curvilinear shadow, ground-glass pattern, and consolidation were improved on day 16. He was discharged from the hospital after testing RT-PCR negative twice.",
"gender": "Male"
},
{
"age": 88,
"case_id": "PMC7248319_02",
"case_text": "An 88-year-old Japanese male with a history of prostate cancer and hypertension boarded the cruise ship with his wife 16 days before the ship was quarantined. He recognized fever (day 0) and underwent RT-PCR testing on day 4, with a positive result, and was admitted on day 6. On admission, he suffered from fever and fatigue without cough or breathing difficulty. Blood results were as follows: WBC 3,100/muL, lymphocyte 704/mL, AST 39 IU/L, ALT 18 IU/L, sodium 127 mmol/L, and CRP 1.52 mg/dL. Fever and fatigue persisted, and other symptoms such as cough and diarrhea were developed on day 11. Despite our efforts to correct sodium abnormality, hyponatremia continued, ranging from 125 to 127 mmol/L, with a mild oxygen requirement (1-2 L/min). Chest X-ray revealed a new appearance of infiltrative shadow in the bilateral lung, and the CT scan image showed GGO in the outer area with or without consolidation. The diagnosis of COVID-19 pneumonia was made, and LPV/r was initiated after achieving consent. He had continued to take telmisartan 40 mg and trichlormethiazide 1 mg for hypertension, tamsulosin hydrochloride 0.2 mg for dysuria, and bicalutamide, an androgen receptor antagonist, 80 mg for prostate cancer. Symptoms gradually decreased in severity, with improvements in hyponatremia and lymphocytopenia. Although diarrhea and appetite loss due to LPV/r were seen, he was able to continue treatment. On day 25, he tested RT-PCR-negative for two samples and was discharged.",
"gender": "Male"
},
{
"age": 44,
"case_id": "PMC7248319_03",
"case_text": "A 44-year-old female without past medical history who is healthcare personnel and had close contact with COVID-19 pneumonia patients recognized fever without any other symptoms (day 0). An RT-PCR test was positive on day 2, and she was admitted to our hospital on day 3. On admission, she was symptom-free without any abnormality on physical examination. Her laboratory test results were as follow: WBC 3,600/muL, lymphocyte 1,224/mL, sodium level 136 mmol/L, Ferritin 20 ng/mL, and CRP 0.06 mg/dL. She developed a fever and dry cough on day 5 but had no severe respiratory symptoms such as difficulty in breathing, chest pain, or productive sputum. However, infiltrative shadows were observed in the right upper and left lower area on chest X-ray on day 6, and CT scan showed consolidations in the same areas on day 7. After obtaining consent, we started LPV/r on day 8, but she suffered from gastrointestinal adverse events and discontinued LPV/r on day 11. She had no concurrent medication. Improvement of pneumonia was observed on day 15, and she was discharged after two consecutive negative RT-PCR results. Interestingly, following the improvement of pneumonia without any symptoms or abnormality in blood examinations, RT-PCR remained positive during her follow-up RT-PCR testing.\nPatients 1 and 2 developed a fever over 38 C and required oxygen inhalation, but neither were observed throughout the clinical course in Patient 3 (Figures 1-3). Pneumonia developed 8, 12, and 7 days after the onset of illness in Patients 1, 2, and 3, respectively (Figure 4; P1A, P2A, and P3A). After LPV/r was initiated, body temperature decreased, with improvement of cough, lymphopenia, hyponatremia, hyper-ferritinemia, and infiltrative shadows in Patients 1 and 2 (P1B, P2B). This effect was rapid in Patient 1 and gradual in Patient 2. No abnormal laboratory test results except for increased CRP were observed in Patient 3. The duration of treatment with LPV/r was 10, 12, and 3 days for patients 1, 2, and 3, respectively.",
"gender": "Female"
}
] |
PMC7248319
|
[
{
"age": 8,
"case_id": "PMC3262997_01",
"case_text": "A previously healthy, 8-year-old, right-handed girl initially presented to the emergency department of another institution with nausea and vomiting followed by a decreased level of consciousness. Upon examination, she was somnolent but arousable with intact brainstem reflexes and no motor deficit. An urgent computerized tomography (CT) scan revealed a right occipital intraparenchymal hematoma with intraventricular extension into the right lateral and fourth ventricle [Figure 1]. There was no overt hydrocephalus. The patient received supportive therapy in this institution and she made an uneventful recovery with residual left homonymous hemianopsia. She was discharged from the hospital after 4 weeks. Three months following the hemorrhage, on November 16, 1995, she underwent a brain Magnetic Resonance Imaging (MRI) that showed an area of encephalomalacia in the right occipital lobe [Figure 2]. A subsequent DSA was performed on December 28, 1995, which revealed a Spetzler-Martin grade III (4 x 3 x 1.5 cm) occipital AVM supplied by the posterior parietal and angular branches of the middle cerebral artery (MCA) and draining through a superficial cortical vein into the right transverse sinus [Figure 3]. There were no feeders from the left internal carotid artery (ICA), external carotid artery (ECA) or posterior cerebral artery (PCA). The patient was then referred to our center for AVM management.\nOn January 5, 1996, the patient underwent a right occipital craniotomy for AVM resection. Postoperative DSA performed 17 days after surgery demonstrated no residual AVM [Figure 4]. The patient made an uneventful recovery except persistent visual field deficit. Although a Magnetic Resonance Angiography (MRA) was recommended at 8-month follow-up, the family declined this study and the patient was lost to follow-up.\nSixteen years after surgery, at the age of 24, the patient developed daily headaches associated with nausea and dizziness that progressed over a 2-month period. Upon consultation in another institution, neurological examination revealed left homonymous hemianopsia and mild (4+/5) motor weakness of the left lower extremity. She was otherwise neurologically intact. CT angiography revealed a recurrence of the right occipital AVM fed by MCA branches and draining into the superior sagittal sinus (SSS) [Figure 5]. The patient was referred to our center where, on August 24, 2011, a DSA confirmed the right occipital AVM [Figure 6a and b]. The patient underwent an uneventful second microsurgical resection of the occipital AVM recurrence through a right occipital craniotomy using ultrasonographic guidance. Postoperative DSA performed 7 days after surgery showed no evidence of residual AVM [Figure 6c]. Her preoperative symptoms resolved, but her visual deficit was mildly accentuated postoperatively. The postoperative course was otherwise uneventful and she remains stable at 5-week follow-up.",
"gender": "Female"
}
] |
PMC3262997
|
[
{
"age": 34,
"case_id": "PMC8411882_01",
"case_text": "Sylvia was a 34 year old woman who was referred to the Helen Dowling Institute, a mental healthcare institute for psycho-oncology. She suffered from severe fatigue (score of 49, which is way above the severe fatigue cut-off of >=35 on Checklist Individual Strength - Fatigue Severity subscale (Vercoulen et al.,)) for over a year by then. Two years prior she was diagnosed with ovarian cancer with bone metastases. The tumor was removed through surgery. Next, she received four rounds of chemotherapy, followed by two surgeries to remove the affected rib and vertebra. After one year of curative treatment, leading to chemotherapy-induced kidney failure, she received medical follow-up consultations every few months by an oncologist. She also suffered from inflammatory bowel disease and inflammatory rheumatism since her teenage years. She lived together with her partner, had a university education, and was fully incapacitated for work since her cancer diagnosis. Previously, she worked fulltime as a project leader.\nWhile she had always struggled with fatigue due to her comorbidities, throughout her cancer treatment the fatigue worsened dramatically. Sylvia described she had particular trouble concentrating when she felt tired. When she tried to read a newspaper or do her administration, she could get headaches and become nauseous. This severely limited her daily life activities. Her experience of fatigue was rather similar from day to day. Usually, she had trouble starting the day, which usually took her a few hours. Fatigue increased throughout the day, with a dip in the late afternoon. She usually took a nap by then because she was unable to do any of her activities. She did, however, also experience unexpected waves of extreme fatigue that did not seem to be related to previous activities. During those moments, it was difficult to get through the day. Furthermore, when she had a particularly busy activity, for example when she went to a party, she had trouble dealing with all the stimuli and social interactions at once. As a result, she would be extra fatigued for the following two to three days.",
"gender": "Female"
}
] |
PMC8411882
|
[
{
"age": 5,
"case_id": "PMC8655870_01",
"case_text": "A 5-year-old, intact male Bengal cat weighing 5.2 kg (body condition score: 3/9) suffered a fracture of the right femur following a motor vehicle accident. A referring veterinary hospital performed surgical fixation using a dynamic compression plate, screws, and cerclage wires. Three weeks after surgery, the cat was presented to the Veterinary Medical Teaching Hospital at the National Pingtung University of Science and Technology due to the recurrence of non-weight-bearing right hind limb lameness.\nInitial physical examination revealed pain and instability upon palpation of the right femur with soft tissue swelling. No other physical abnormalities were observed. Radiographic examination revealed a closed, comminuted, mid-diaphyseal fracture of the right femur with notable bone callus formation and implant failure (Figure 1A).\nThree surgical revisions were performed before the final revision, along with concurrent activity restriction, analgesic medication administration, and low-level laser therapy. During the first revision surgery, the previous implants were removed and the fracture edges were debrided. The fracture was stabilized with a 2.7-mm non-locking reconstruction plate and a 1.6-mm intramedullary (IM) pin. After 2 months, the cat presented with persistent lameness and muscular atrophy of the affected limb on palpation. Radiographic examination indicated 30% femoral shortening and loosening of the four distal screws (Figure 1B). A second revision surgery was performed; the fracture edges were debrided, and an autologous cancellous bone graft harvested from the proximal ipsilateral humerus was placed around the fracture. The fracture was stabilized using a longer 2.7-mm plate and a 2.0-mm IM pin. However, 4 months later, the lameness remained unimproved, and radiographs showed delayed union with screw loosening (Figure 1C). Treatment options including femur amputation, type IA external skeletal fixation alone or combined with a tie-in technique, and autograft combined with BMP were discussed with the owner. In the meantime, the loosened reconstruction plate and screws were removed to minimize damage to the surrounding soft tissue and bone in a third revision surgery. The IM pin was left in place according to the owner's request although it provided only minimum bone fracture support. At presentation 11 months later, atrophic non-union of the affected femur was noted (Figure 1D). The owner eventually opted for fracture repair using a structural bone autograft and BMP. The surgical events of this case are shown in the timeline (Figure 2).\nThe preoperative complete blood count and serum biochemistry results were within normal limits. Fentanyl (5 mug/kg) and cefazolin (22 mg/kg) were administered intravenously as a premedication and prophylactic antibiotic, respectively. General anesthesia was induced with intravenous propofol (6 mg/kg) and maintained with 1-2% inhaled isoflurane. Intraoperative analgesia was administered via a constant rate infusion of fentanyl (1.5 mug/kg/h), lidocaine (1.2 mg/kg/h), and ketamine (0.15 mg/kg/h). The cat was positioned in left lateral recumbency, and the previous IM pin was removed from the trochanteric fossa. Subsequently, the fracture site was exposed using a lateral approach in a routine manner. When fully exposed, the fracture edges were surrounded by smooth fibrotic tissue and mild callus formation was noted. The fracture edges were debrided with an ultrasonic surgical device (SonoCure, Tokyo Iken Co., Tokyo, Japan) (Figure 3A). The medullary canal was recanalized by drilling a 2.8-mm pin into the canal from the fracture site (Figure 3B). The fractured edges were maximally distracted using bone-holding forceps, although the original bone length could not be restored due to excessive soft tissue tension. An 8-hole, 66-mm, ball-shape reconstruction locking plate (Lisen Tech., Taoyuan City, Taiwan) with six 2.7-mm locking self-tapping cortical screws was used to stabilize the fracture segments; two holes in the middle were left empty. A bone gap of ~1.8 cm was measured in the defect.\nThe ipsilateral seventh rib was approached by making an incision through the skin and thoracic muscles. The periosteum of the rib was incised to expose the mid-section of the rib body, and it was elevated carefully. A 2-cm segment of the rib was harvested using an ultrasonic scalpel (SonoCure, Tokyo Iken Co., Tokyo, Japan) (Figure 3C). The intercostal muscles were then apposed over the cut edge of the rib with 3-0 polydioxanone suture in a simple interrupted pattern. The length of the graft was chosen to be the length of the fracture gap plus 0.5 mm. The graft was then positioned at the center of the fracture gap with gentle manual impaction (Figure 3D). No additional fixation was performed. Another skin incision was made over the ipsilateral iliac crest. Several pieces of corticocancellous iliac autograft were obtained with a rongeur (Figure 3E) and placed to fill the residual space around the rib graft. Finally, a 3 x5 cm absorbable collagen sponge (SavPet, Oriental Co., Taipei, Taiwan) was soaked in 100 mug of rhBMP-2 (10426-HNAE, Sino Biological, Beijing, China) reconstituted in 0.5 mL of normal saline and wrapped around the bone defect (Figure 3F). Routine closure of the three surgical sites was performed. As the pleura was left intact, a thoracostomy tube was not required. Although the exact range of motion was not measured by a goniometer during surgery, the range of motion of the right stifle was subjectively judged to be about half that of the contralateral side on physical exam before extubation. Postoperative radiographs were obtained to confirm the position of the graft (Figure 4A). Mild distal femoral varus was also noted (Figure 4A). The radiographically measured length of the right femur was ~8.0 cm, and that of the left femur was 12.1 cm (~34% shortening).\nAnesthetic recovery was uneventful. Pain was managed with intravenous tramadol (2 mg/kg) twice a day for 2 days, a single dose of intravenous meloxicam (0.1 mg/kg), and low-level laser therapy on the surgical sites. Intraoperative aerobic and anaerobic bacteria cultures were performed on a sample collected from the bone defect before debridement, and no pathogens were identified. No postoperative complications were observed. The cat was discharged on the fourth postoperative day with an instruction of cage rest.\nOn the seventh postoperative day, occasional weight-bearing lameness during walking was noticed (lameness score: 4/5). After 2 months, the cat was able to trot with mild lameness at home. On physical examination, the cat was consistently bearing weight on the affected limb with a moderate weight-bearing lameness during walking (lameness score: 3/5) characterized by a decreased swing phase. Radiographs showed bridging callus formation with new bone formation and incorporation of the transplanted rib graft (Figure 4B). On radiographs taken 5 months postoperatively, bony union at the fracture gap was evident and the transplanted rib graft was indiscernible (Figure 4C). Moreover, at the last recheck examination 12 months postoperatively, successful bone remodeling and apparent maturity of the generated bone were noted (Figure 4D). To compensate for the discrepancy in hind limb length, the cat stood with the affected hip, stifle, and hock joints at greater angles of extension. Despite mild lameness during walking (lameness score: 2/5) (see Supplementary Video 1), the cat was energetic and had no difficulty jumping at home. The passive range of motion of the right stifle was also increased but was still about 30% less than contralateral side on physical exam without application of anesthesia or sedation. The owner was satisfied with the improved health status and good ambulatory function.",
"gender": "Male"
}
] |
PMC8655870
|
[
{
"age": 23,
"case_id": "PMC5944016_01",
"case_text": "A 23-year-old healthy female presented with non-progressive right upper eyelid painless swelling for 8 months. It was not associated with other ocular or visual complaint. The patient's medical history and family history were unremarkable particularly for signs and symptoms of neurofibromatosis.\nOn Examination, a soft, non-tender, compressible, mobile mass was appreciated in the right upper eyelid. The Hertel exophthalmometer (at a base of 105) measured 22 mm on the right eye and 19 mm on the left eye with no changes during Valsalva's maneuvers. The extraocular muscles movement was full. The superior fullness over the right upper eyelid was evident to the patient and disturbing for her cosmetically (Fig. 1A). Systemically, the patient did not also have any signs suggestive of neurofibromatosis.\nUltrasound B-scan was done on the left side and showed a cystic lesion suggestive of a unilateral dermoid cyst.\nOrbital computed tomography (CT) showed a cylindrical shaped hypodense mass measuring approximately 4.4 x 1 x 1.3 cm in the superior aspect of the right orbit causing an inferior displacement of the superior rectus muscle as well as the right globe. Incidentally, a similar, smaller, hypodense lesion was noted in an identical location within the superior aspect of the left orbit with similar inferior displacement of the left superior rectus muscle. The remaining extraocular muscles were preserved (Fig. 1B and C).\nThe lesion was excised through upper eyelid skin crease incision and superior orbitotomy. It appeared intra-operatively to be cystic in nature (Fig. 2A) arising in relation to the supra-orbital nerve and extending deeply along the course of the frontal sensory nerve into the superior orbital fissure (Fig. 2B).\nGrossly, the tissue consisted of a cystic fusiform mass attached to a slender-like structure representing a nerve. The whole specimen measured 4 x 0.3 x 0.2 cm, was serially sectioned and submitted \"en toto.\"\nHistopathologically, the unremarkable part of the nerve tissue was evident, however the dilated part observed grossly showed many myelinated axons, and collagen fibers loosely distributed within a myxoid stroma. The tissue was surrounded by a thin layer of perineurium and continues as a thickened unremarkable nerve (Fig. 2C and D).\nPost operatively, the patient complained of decreased sensation and numbness over the distribution of the frontal nerve and was improving gradually over few months. She had no recurrence 2-years post-surgical treatment and possible excision of the lesion on the left side is being considered.",
"gender": "Female"
}
] |
PMC5944016
|
[
{
"age": 27,
"case_id": "PMC8182299_01",
"case_text": "A 27-year-old male with no past medical history presented to the emergency department with headache for the past 2 days. He also endorsed photophobia, chills, night sweats, decreased appetite, 10-pound unintentional weight loss, and fevers. The patient reported being sexually active with men only with the last unprotected sexual intercourse 2 weeks ago. He denied any illicit drug use.\nIn the emergency department, the patient had a temperature of 38.2 C, a heart rate of 103 beats/minutes, respiratory rate of 20 breaths/minutes, blood pressure of 100/60 mm Hg, and O2 saturation of 100% on room air. Physical examination was unremarkable with no meningeal signs. Given his headache and a fever of 38.3 C, the patient was started on empiric meningitis treatment with vancomycin and ceftriaxone. Computed tomography of the head without contrast showed no acute intracranial process. Magnetic resonance imaging of the brain with and without contrast was unremarkable.\nInitial laboratory findings (Table 1) were significant for leukopenia of 2.2 x 103/microL, thrombocytopenia of 81 x 103/microL, hemoglobin of 12.3 g/dL, transaminitis, elevated C-reactive protein of 3.16 mg/dL, and hypoalbuminemia. Chest X-ray did not reveal any active infection or any other pathology. Blood cultures were negative. Lumbar puncture revealed the following: white blood cells 3 cells/cm2, red blood cells 378 cells/cm2, glucose 54 mg/dL, and elevated protein 51 mg/dL. Cerebrospinal fluid (CSF) was negative for cryptococcal antigen, herpes simplex virus, and CSF VDRL. Accordingly, vancomycin was discontinued. Ceftriaxone was decreased to 1 g every 24 hours for 2 weeks, followed by intramuscular benzathine penicillin G 3 million units to treat presumed neurosyphilis due to elevated protein in the CSF. HIV antigen/antibody test was positive, with an HIV-RNA level over 10 000 000 copies/mL, CD4 T-cell count of 201 cells/microL, and CD8 T-cell count of 93 cells/microL. These results along with fatigue, fever, pancytopenia, and transaminitis supported the diagnosis of acute retroviral syndrome; therefore, ART was initiated consisting of darunavir/cobicistat/emtricitabine/tenofovir alafenamide.\nAdditional laboratory values (Tables 1 and 2) showed hyperferritinemia >40 000 ng/mL, D-dimer >5000 ng/dL, bi-cytopenia, transaminitis, and hypertriglyceridemia, which raised concern for HLH. H-score showed a 93% to 96% probability of having HLH (Table 3). A collaborative decision was made by the patient and the physicians to defer bone marrow biopsy and we chose to confirm our suspicion by performing noninvasive tests such as interleukin (IL)-2 receptor and natural killer (NK) cell activity.\nComputed tomography of the abdomen and pelvis with contrast showed borderline prominent right hepatic lobe, slight hypodensity of the liver suggesting fatty hepatocellular changes, and mesenteric adenitis. The patient's symptoms of headache had self-resolved on the third day of admission and he left against medical advice. Following discharge, IL-2R returned >4000 pg/mL. The suspicion of HLH secondary to acute HIV was confirmed as the patient met 4/8 criteria for the diagnosis including fever, bi-cytopenia of thrombocytopenia and neutropenia, elevated ferritin, elevated IL-2R along with the high probability of H-score. The patient followed-up outpatient and he reported complete resolution of his symptoms.",
"gender": "Male"
}
] |
PMC8182299
|
[
{
"age": 9,
"case_id": "PMC10311060_01",
"case_text": "A 9-year-old previously healthy Syrian boy was admitted with a 1-day history of epistaxis, hematemesis, hematuria, and melena associated with periumbilical abdominal pain. He also has been complaining of pallor, decreased activity and appetite, and weight loss for a month prior to his presentation. A week before his admission, there was a noticeable increase in his pallor. Upon presentation, he was hypoactive, pale, and jaundiced. He was normothermic and hemodynamically stable. System examination revealed hepatosplenomegaly small palpable lymph node in the supraclavicular and inguinal region. The remainder of his physical examination was unremarkable.\nHis initial Laboratory tests at admission showed a picture of bi-cytopenia in the form of anemia and thrombocytopenia. Platelet 11 x 109/L (normal range: 150-400 x 109/L); hemoglobin 97 mg/L (normal range: 113-150 mg/J); white blood cells 10.2 x 109/L (normal range: 4-12 x 109/L); and reticulocyte counts 2.45% (normal range: 0.5%-1.5%). Peripheral blood smear showed red blood cell fragmentation (Schistocytes) at 1.45%, and white blood cells, mainly neutrophilia, displayed reactive changes in forms of toxic granulation.\nLactate dehydrogenase was 1,021 U/L (normal range: 125-220 U/L); aspartate aminotransferase 46 IU/L (normal range: 5-34 U/L); alkaline phosphatase 143 IU/L (normal range: 156-369 U/L); total bilirubin 41.3 micromol/L (normal range: ~20.5 micromol/L); and direct bilirubin 12.7 micromol/L (normal range: ~8.6 micromol/L). Blood urea nitrogen and creatinine were within normal limits. Urinalysis showed hematuria and hemoglobinuria. Coagulation screening tests were within the normal range; fibrinogen level was decreased to 1.72 g/L (normal range: 1.5-4.1 g/L); Coombs test was negative.\nInitially, the patient was diagnosed with atypical idiopathic thrombocytopenic purpura (ITP) and treated with Intravenous Immunoglobulin (IVIG) 1 g/kg. He received two doses of IVIG without response, and his Hgb and platelet counts declined further.\nIn order to rule out bone marrow infiltration, bone marrow aspirations (BMA) and biopsy were performed. The preliminary report of the BMA did not suggest malignancy; however, it showed megakaryocytes which is suggestive of immune destruction. Therefore the patient was started on a six days trial of pulse steroid therapy (intravenous methylprednisolone 2 mg/kg/day divided twice a day), with no improvement in Hgb or platelet count. The final result of BMA revealed peripheral destruction of blood cells, indicating microangiopathic hemolytic anemia (MAHA), likely TTP, congenital or acquired due to an immune reaction to ADAMTS-13; this diagnosis was supported by repeated peripheral blood smear showing Schistocytes fragments of red blood cells >2.5% (Normal range <1.5%), accordingly a five days trial of fresh frozen plasma transfusion was initiated, in which the patient showed improvement in LDH and platelet levels.\nIn addition, bone marrow biopsy results showed morphologic evidence of frequent small epithelioid non-necrotizing granuloma. Considering that this is a nonspecific finding that could be attributed to various etiologies, including infections (viral, bacterial, and tuberculosis), infiltrating diseases such as sarcoidosis, and malignancies, further investigation has been pursued. Viral surveillance, including EBV, CMV, and HIV were negative. QuantiFERON-TB Gold was negative. Abdominal ultrasound and computerized chest and abdominal tomography (CT) scan showed splenomegaly with no significant lymph node enlargement. Since Brucella is endemic in Saudi Arabia and the patient had recently consumed a significant amount of unpasteurized goat milk and cheese, brucella titers were sent, and the result showed Brucella abortus 1:5,120 (normal range: <1:160), and Brucella melitensis 1:20,480 (normal range: <1:160).\nA combination of Doxycycline (5 mg/kg/day orally twice a day) and Rifampin (20 mg/kg/day orally twice a day) antimicrobial therapy was commenced for a total of 6 weeks (42 days) to treat brucellosis. Once starting the anti-brucellosis management, the patient did not require further FFP transfusion. The ADAMTS-13 essay result showed: extremely low ADAMTS-13 activity, which was found at 0.02 IU/ml (normal range: 0.40-1.30 IU/ml), with an antigen assay below the detection level of 0.01 IU/ml (normal range: 0.41-1.41 IU/ml); and anti-ADAMTS-13 antibodies were detected at high concentrations of >95 IU/ml (>15 IU/ml is considered positive). All these findings, along with the presentation of thrombocytopenia and hemolysis, are specific to acquired TTP.\nSeveral days following the commencement of antibiotic therapy, the platelets count and hemoglobin levels recovered to the normal range (Figure 1), while the lactate dehydrogenase levels decreased substantially to a normal level.",
"gender": "Male"
}
] |
PMC10311060
|
[
{
"age": 45,
"case_id": "PMC8648468_01",
"case_text": "The patient was a 45-year-old female who was admitted to an acute psychiatric hospital with depressed mood, suicidal ideation, and auditory hallucinations. She was discharged five days prior from a different hospital, and according to previous records, has been repeatedly hospitalized within the last 12 months totaling 18 emergency department visits. Her psychiatric history was significant for benzodiazepine use disorder, opiate use disorder, borderline personality disorder, and major depressive disorder. Her medications on admission included clonazepam, clonidine, buprenorphine and naloxone, fluoxetine, gabapentin, and trazodone. Her social history included unemployment and homelessness without family support.\nDuring the admission, the patient exhibited a wide range of odd behaviors that will be described in the categories of catatonia-like signs, psychotic signs, and seizure-like signs. Catatonia-like signs included (1) a flat affect with psychomotor retardation and fluctuating mutism, (2) complete lack of social contact with other patients for the entirety of the hospital stay, (3) twitching and eye grimacing with shoulder shrugging, (4) posturing and immobility, and (5) diaphoresis. These severe signs persisted throughout her hospital stay and were so convincing of catatonia that multiple attendings, nurses, and staff held special meetings to specifically review her catatonic status. Additional consultants were recruited to discuss her case at length. Furthermore, these catatonic symptoms resulted in the patient's hospital stay lasting almost two months as the appropriate treatment and disposition were considered. Psychotic signs included (1) mouthing words and seemingly responding to internal stimuli, (2) thought blocking, and (3) reported auditory hallucinations. Seizure-like behavior included episodes of jerking head back and forth with her eyes fluttering without tongue biting. She was conversant during the episodes, and when seen by a consultant, her exam was benign.\nThe signs described above were complicated by subtle clues pointing towards volitional behavior, as confirmed by multiple staff members and psychiatry attendings involved in her care. Her external goals appeared to be to gain access to benzodiazepines as well as to shelter and food. Evidence for this included repeatedly verbalizing that she was withdrawing and needed clonazepam, and selectively choosing only the benzodiazepines, clonidine, and gabapentin from the cup of medications given to her every day while refusing the other medications. Discussion of her case with a relative revealed that she had been overusing her prescription clonazepam and opioids. Throughout her hospital stay, she ate every meal without prompting or interruption from her other behaviors, unusual of catatonia. Furthermore, she was not eager for discharge and appeared to prolong the hospital stay willingly. In terms of her catatonia-like behaviors, the patient would lapse into psychomotor retardation, mutism, and repetitive movements such as grimacing and eye twitching during uncomfortable or uninteresting topics of conversation. She would then lapse out of these actions abruptly and speak lucidly about urgent issues she wanted to vocalize. This was similar to her psychotic symptoms, such as abruptly lapsing in and out of mumbling, mouthing words, and seemingly responding to internal stimuli. The use of risperidone did not seem to alleviate these psychotic behaviors. As for inconsistencies in her seizure-like activity, the patient would often have dramatic seizure events and then suddenly stand up after her seizure episodes and walk independently back to her room to position herself for an expected lorazepam injection. There was one incidence where staff members saw her purposefully pour water onto her pants to feign urinary incontinence during a seizure episode. In some of her more minor automatisms, she would shake and jerk one arm while the other arm would steadily hold onto food and drink without spillage.\nThe patient's case was discussed at length with all the attending psychiatrists, case managers, and hospital staff who were involved in her care. A catatonia specialist in the region was also consulted, who confirmed that she was likely to not have catatonia. Repeated administration of lorazepam as challenge tests seemed to have a limited effect on her catatonic and other behaviors and would instead seem to reinforce them. After a protracted hospital stay of two months, the patient was discharged to a shelter with proper social supports and psychiatric follow-up. Two and three months after discharge, the patient represented to two different hospitals at different cities for unusual medical concerns and requests for medications, leaving against medical advice each time, once walking out with a peripheral IV still in hand.",
"gender": "Female"
}
] |
PMC8648468
|
[
{
"age": 45,
"case_id": "PMC9676932_01",
"case_text": "A 45-year-old non-smoking female patient received a diagnosis of stage IV lung adenocarcinoma on March 2021 with pleural, bilateral lung lesions and the involvement of mediastinal lymph nodes, the sternum and the right pubic symphysis ( Figure 1A ). The magnetic resonance (MR) of the column showed the presence of metastases in the vertebral body of T9, from T6-T7 up to T9-T10, and dural enhancement anteriorly to the spinal cord of T8. The brain MR showed at least 12 lesions at sub and supratentorial sites ( Figure 1B ). To obtain a diagnosis, the patient underwent video-assisted thoracoscopic surgery with the identification of multiple alterations in the parietal, diaphragmatic, mediastinal, and visceral pleura. Histologic diagnosis described multiple localizations of acinar and solid adenocarcinoma (grade 2) of the lung ( Figure 2A ). Targeted next-generation sequencing (NGS) analysis across 161 of the most relevant genes implicated in cancer was performed using the Oncomine Comprehensive Assay v3 panel (Thermo Fisher Scientific) as previously described. The EML4::NTRK3 gene fusion was identified (EML4 exon2-NTRK3 exon14), and confirmed by both fluorescence in situ hybridization (FISH) analysis, using ZytoLight SPEC NTRK3 Dual Color Break Apart and ZytoLight SPEC EML4 Dual Color Break Apart ( Figures 2B, C , and immunohistochemistry staining with panTRK antibody (Roche) ( Figure 2D ). The same OCAv3 NGS analysis performed on matched normal tissue of the patient did not detect germline alterations.\nBased on such findings, entrectinib was started.\nWhole brain radiotherapy was avoided because the patient had no neurological symptoms, there was no evidence of edema in the brain MR, the number of brain lesions did not support the use of stereotactic radiosurgery and data from literature suggested the efficacy of entrectinib to cross the blood-brain barrier.\nThe PET scan ( Figure 3 ) and the brain MR performed two months following the beginning of treatment showed a partial response. Treatment is currently ongoing. The brain MR and the PET scan performed recently documented a complete radiologic regression. In Figure 4 , a summary of the patient's clinical history.",
"gender": "Female"
}
] |
PMC9676932
|
[
{
"age": 75,
"case_id": "PMC6356047_01",
"case_text": "A 75-year-old female patient was admitted with sudden-onset dizziness on April 8, 2017. She had a medical history of hypertension, diabetes mellitus, pulmonary tuberculosis and chronic obstructive pulmonary disease with an FEV1 of 62% of normal predicted (1.39 L). This patient did not report any allergies from the past. Brain magnetic resonance imaging indicated an infarction in the posterior inferior cerebellar artery territory. Atrial fibrillation was also found. Edoxaban and bisoprolol were administered together with amlodipine, gliclazide, metformin, and atorvastatin.\nThe patient became drowsy and dyspneic on May 4, 2017. Her body temperature was 37.6 C with a white blood cell (WBC) count of 7530/mm3 and D-dimer level of 0.89 mug/ml. Enterobacter cloacae was grown on blood and urine cultures. She received ertapenem for 15 days. However, she continued to experience dyspnea until May 18 and the D-dimer level increased to 5.52 mug/ml. Multiple PTEs were found at the segmental pulmonary arteries of the right lower lobe and left lung with focal deep vein thromboses at the infrarenal inferior vena cava, left popliteal vein and calf vein on three-dimensional angiography computed tomography scans. The activated partial thromboplastin time was 38.4 s (29.0-44.0 s); the prothrombin time, 14.5 s (international normalized ratio, 1.17) and WBC count, 7440/mm3. We stopped edoxaban and started intravenous heparin injection.\nRivaroxaban 15 mg twice a day was started from May 30. Non-blanching erythematous palpable petechiae and purpura (Fig. 1) were found on both thighs, both arms, and the lower abdomen on June 16. Complete blood count (CBC), erythrocyte sedimentation rate (ESR), and the biochemical profile with liver and renal function, coagulation studies, and urine analysis were within normal limits. Chest X-ray (CXR) showed no active parenchymal lesion. Further studies, including antinuclear antibody (ANA), rheumatoid factor (RF), antineutrophil cytoplasmic antibodies (ANCA) (cytoplasmic and perinuclear), complement levels (C3, C4), serum cryoglobulins, hepatitis B surface antigen, hepatitis C antibody, and human immunodeficiency virus test, yielded normal results. We performed punch biopsies on the abdomen on June 20. The biopsy specimen showed superficial perivascular neutrophilic infiltration with leukocytoclastic debris, and interstitial infiltration of a few eosinophils and melanophages, consistent with LCV. Direct immunofluorescence (DIF) staining demonstrated granular deposition of immunoglobulin A and C3 in dermal blood vessels (Fig. 2).\nWe stopped rivaroxaban on July 12 and started dabigatran 110 mg twice a day instead. The skin lesions improved within 2-3 days. We administered rivaroxaban 20 mg daily again from July 19 to confirm that the skin lesions were caused by it. Similar skin lesions developed again on July 29, and rivaroxaban was stopped on July 31. We started dabigatran 110 mg daily again from August 1. The skin lesions improved within 2-3 days again but they began to reappear on August 13. Dermatological assessment performed at that time indicated that this was the same disease. Since the patient was not receiving any concomitant medication that could be suspected as the cause of LCV, we stopped dabigatran on August 15, and started edoxaban 15 mg daily from August 16. The skin lesions improved over several days. We did not administer rivaroxaban and dabigatran anymore, and the skin lesions also did not develop again subsequently. However, the patient developed hospital-acquired pneumonia and died of it on September 11, 2017.",
"gender": "Female"
}
] |
PMC6356047
|
[
{
"age": 67,
"case_id": "PMC5680665_01",
"case_text": "A 67-year-old male presented with nonmechanical axial back pain, neurogenic claudication, and an otherwise normal neurological exam. Established T1 (hypointense), T2 (hyperintense), and T1 enhanced magnetic resonance (MR) studies documented a large tumor centered at the L3 level with marked epidural compression and bilateral retroperitoneal extension [Figure 1].\nFollowing confirmation of a chordoma by needle biopsy, our patient underwent a three-stage operation for complete resection.\nFollowing a midline exposure from T12 to L5, the pedicles of L1, L2, L4, and L5 were instrumented bilaterally. Transforaminal interbody grafts were placed at L1/2 and L4/5. A massive en-bloc resection of the tumor required bilateral troughs in the L3 pars extending to the superior lamina, and included L2/3 bilateral facetectomies and transverse process resections. Pedicle screws were then connected with two rods and a crosslink [Figure 2].\nThe vascular surgery team performed a retroperitoneal approach to the anterolateral lumbar spine on both the right and left sides respectively. The ribs of T11 and T12 were taken, the psoas muscle was mobilized, and the anterolateral disc spaces of L2/3 and L3/4 were exposed allowing retroperitoneal tumor resection utilizing annulotomies and diskectomies [Figure 3]. The defect was reconstructed with an expandable cage and lateral plate, whereas the harvested rib was used to create a strut graft next to the cage for early bone fusion [Figure 4].\nPostoperatively, the patient only had mild paresthesias and numbness of the right anterior thigh accompanied by a partial 4/5 dorsiflexion deficit; symptoms/signs resolved prior to transfer to a rehabilitation center. The histological examination of the en-bloc specimen confirmed tumor excision along with 1 of 3 lymph nodes that was positive for chordoma. Subsequent plans were made for future proton beam therapy.",
"gender": "Male"
}
] |
PMC5680665
|
[
{
"age": 69,
"case_id": "PMC3420376_01",
"case_text": "A 69-year-old woman presented to the Rheumatology Clinic in January 2010 for evaluation of generalized morphea/localized scleroderma diagnosed 7 months after receiving local radiation to right breast for treatment of breast cancer. In September 2008, breast cancer was diagnosed by needle biopsy when an abnormal cluster of calcifications was identified by a screening mammography in September 2008. After consultation with her surgeon, oncologist, and radiation therapist, she underwent lumpectomy and sentinel lymph node biopsy. The cancer was estrogen receptor negative, and the sampled lymph nodes were negative. The tumor was estrogen and progesterone receptor positive. She opted not to take tamoxifen or other antiestrogen therapy. To prevent cancer recurrence, external beam radiation to right breast was completed (October 2008). She experienced local radiation side effects of erythema and superficial blister formation that resolved with local wound care.\nApproximately 7 months after completing radiation therapy, she developed two painful blisters in the inframammary fold of the right breast. On examination she was found to have generalized induration of the right breast and right axilla attributed to postradiation fibrosis. The breast and axilla were warm to touch and painful to palpation. That was with sparing of the areola. Additional lesions distant from the radiation field were also noted. These included hyperpigmentation of the skin at the waistline, induration of the skin in the left upper inner thigh and left groin, and a shiny patch of thickened skin on the anterior left shin. The lesions not involving the breast and axilla were not painful.\nIn May 2009, a punch biopsy of the left groin lesion diagnosed localized scleroderma (morphea). On microscopy, the skin surface was thin with a slightly keratotic epidermis. The papillary dermis was edematous and homogenous. The reticular dermis had dense collagen in bundles with intervening mild lymphoid and plasma cellular inflammation present around the adnexal structures. Mild chronic inflammation in the subcutaneous fat was noted at the base of the biopsy. For treatment of the right breast and axillary lesions, topical calcipotriol and topical betamethasone dipropionate were prescribed without benefit. Painful ulcers developed in the area of application in the right axilla which healed slowly when the topical medications were discontinued. The area under the right breast remained painful with chronic superficial ulceration. Application of topical silver impregnated dressings was of no benefit.\nIn addition to the skin lesions, she described fatigue and generalized arthralgias. She denied more specific symptoms of systemic connective tissue disease, that is, no history of Raynaud's, esophageal reflux, shortness of breath, cough, joint swelling, morning stiffness, sicca symptoms, pleuritis, or serositis. Prior to diagnosis of breast cancer, she had no significant past medical or psychiatric history and was on no prescribed medications. Family history was negative for connective tissue disease. Physical examination confirmed circumferential induration of the right breast with sparing of the areola. Induration extended into the right axilla. Superficial erosion of the epidermis was noted in the inframammary fold of the right breast. A band of hyperpigmented, thickened skin was noted along the anterior waistline. A hypopigmented indurated patch was noted in the left groin with a healed punch biopsy site. Thinning of the skin with hypopigmentation and superficial telangiectasias was noted in the upper left medial thigh. A 3 cm patch with central hypopigmentation was present on the left anterior mid tibia. She had no sclerodactyly. Nail fold examination for capillary changes was normal. Examination of the heart, lungs, and abdomen was normal. Laboratory testing was normal, including complete blood count, chemistry panel, thyroid function tests, and urine analysis. Sedimentation rate and C-reactive protein were normal. Lyme titer was negative. Thyroid autoantibody testing was negative. ANA was interpreted as borderline positive, with titer of 1 : 160 in a speckled pattern. Further testing for ANA subtypes was negative for anti-topoisomerase, anti-RNP, anti-Smith, anti-ds DNA, anti-SSA, and anti-SSB.\nShe was prescribed minocycline 100 mg twice a day, and, after three days of therapy, she reported dramatic improvement in generalized pain and fatigue. The superficial erosions in the inframammary fold healed. However, despite the initial perceived benefit, the right breast remained warm and tender to palpation. New lesions occurred on the right lower extremity. In August 2010, methotrexate 7.5 mg weekly and titrated to 12.5 mg was prescribed. Folic acid 1 mg per day was prescribed to prevent methotrexate side effects. After the addition of methotrexate, no new lesions occurred. Signs of inflammation in the irradiated right breast resolved though skin thickening remained unchanged. The lesions on bilateral lower extremities softened. Minocycline was discontinued in March 2011 when abnormal pigmentation developed as a side effect. She remained without signs or symptoms of a systemic connective tissue disease.",
"gender": "Female"
}
] |
PMC3420376
|
[
{
"age": 24,
"case_id": "PMC4598389_01",
"case_text": "A 24-year-old man was referred to the Department of Oral & Maxillofacial Pathology for evaluation of an asymptomatic bony hard expansion in relation to the buccal aspect of maxillary right canine & first premolar. Patient's medical history was non-contributory. The lesion was slow growing with one-year duration. It had increased in size slowly for nine months and remained static thereafter. Clinical examination did not show any endodontic or coronal pathologic condition of the neighboring maxillary canine, first premolar, and the maxillary incisors. \nPanoramic (Fig. 1) and occlusal radiographs (Fig. 2) showed an oval well-defined unilocular expansile radiolucency measuring 2 x 1.7 cm. The lesion had a target-like appearance with a central area of floccular calcification and caused divergence of the roots of the right canine and maxillary first premolar with no root resorption. Based on the clinical and radiographic findings a provisional differential diagnosis was reached. Central ossifying fibroma, focal cemento-ossifying dysplasia and adenomatoid odontogenic tumor were the pathologies considered.\nSince the lesion was small and appeared well demarcated on radiographs patient was advised to undergo an excisional biopsy. Upon patient's acceptance and medical clearance, the procedure was performed. The lesion was easily separated from the surrounding tissue and enucleated in toto. Gross examination showed an encapsulated lesion with a thick wall, to which multiple irregular gritty pieces of tissue were attached. The overall size of the excised lesion was 3.4x 3x 1.3 cm. The cut- section of the encapsulated lesion showed an intracapsular solid mass with multiple cystic spaces. The overall consistency of the contents was gritty. The entire tissue was prepared for microscopic examination. The tissue blocks were processed for routine paraffin embedding without decalcification. \nA whole slide digital scan showed the presence of two distinct and yet closely associated contiguous lesions. A larger well-encapsulated lesion with a thick fibrous wall containing multinodular cellular proliferation with scanty connective tissue and multiple empty areas and, small fibrocellular proliferations interspersed with irregular mineralization partly attached to the extra-capsular surface (Fig. 3A & B).\nThe cellular mass within the encapsulated lesion consisted of multiple nodules of varying sizes. The majority of the nodules consisted of cuboidal or columnar epithelial cells that formed nests, rosette-like patterns and duct- like spaces. Tumor droplets (eosinophilic amorphous material) were seen between the cells and in the rosette- like structures. The spaces between the nodules were occupied by interlacing strands of oval, angular and elongated epithelial cells. Basaloid epithelial cells formed single and double layered trabecular or cribriform configurations between and connecting cell rich nodules (Fig. 4A & B). Few areas showed collections of eosinophilic polyhedral squamous like epithelial cells with well-defined cell borders (Fig. 5A) and intercellular bridges (Fig. 5B). Calcified bodies were found through- out the lesion but were mostly associated with the polygonal cells (Fig. 5B). The mineralization was in the form of globular mineralization that was nearly translucent and, concentric rings (Liesegang pattern). Islands of amyloid- like material that were Congo-red positive and produced characteristic apple green birefringence on polarized microscopy were also found (Fig. 6A-C). The stromal connective tissue was overall scant and loose. The endothelial lining of the blood vessels showed degenerative changes (Fig. 4A).\nThe extra capsular lesion consisted of multiple small fragments of fibrocellular mesenchymal tissue interspersed with numerous irregular and interconnecting bone and cementum- like material. An artefactual split existed between parts of the lesion and the fibrous capsule. The fibrocellular collections showed few hemorrhagic areas, thick curvilinear ginger root-like trabeculae with few lacunae and ovoid cementicles with prominent resting lines. Cellular areas showed spindle-shaped fibroblasts. (Fig. 7A & B). The maturing areas of the lesion showed a confluence of woven and lamellar bone (Fig. 8A & B).\nThe resultant diagnosis was two- fold and reported the existence of two concomitant and contiguous lesions. First lesion was diagnosed as extra-follicular AOT with CEOT-like areas based on clinicopathological findings. The second lesion was diagnosed as an FCOD attached to the fibrous wall of the AOT in an extra capsular relation based on the radiological and histological findings that were confirmed by gross findings of the surgical specimen. \nFollow-up was uneventful and showed normal bone healing and the canine and first premolar, were vital two years postoperative.",
"gender": "Male"
}
] |
PMC4598389
|
[
{
"age": 36,
"case_id": "PMC7591673_01",
"case_text": "A 36-year-old woman with 21 weeks of pregnancy was admitted to our hospital for a left renal tumor, which was incidentally detected by ultrasonography in a routine pregnancy examination. Ultrasound showed a confounding echo mass in the middle part of the left kidney, 7.9 cm in size, uneven internal echo, and clear blood flow signal inside. Computed tomography (CT) was not performed, as she was pregnant. Abdominal magnetic resonance imaging (MRI) showed a round mass in the middle part of the left kidney with a maximum diameter of 8.3 cm (Figure 1). The signal is heterogeneous, with some fluid visible inside the mass. Since angiomyolipoma usually shows hyperechoic rather than confounding echo in ultrasound, renal cancer was considered. The patient denied lower back pain, hematuria, fever, frequency of urination, urgency, pain, and other discomforts. Past medical history was unremarkable. The patient gave birth to a healthy girl 5 years ago. Personal history and family history were not remarkable. After admission, there were no abnormalities in vital signs, blood pressure was 130/80 mmHg, blood routine and biochemical examinations were within the normal range (hemoglobin was 114 g/L, serum creatinine was 47 mumol/L, and potassium was 3.7 mmol/L). Physical examination: There was no tenderness or muscle tension in the abdomen, and the mass was not touched.",
"gender": "Female"
},
{
"age": 36,
"case_id": "PMC7591673_02",
"case_text": "A multidisciplinary team including urologists, gynecologists, pediatrists, anesthesiologists, and radiologists was responsible for the decision making to help the patient and her baby. Considering that the patient is only 36 years old, her strong desire to remove the tumor as well as retain the kidney, and the relatively indolent nature of the RCC, retroperitoneal laparoscopic partial nephrectomy was performed by an experienced surgeon after the risk was explained and informed consent was signed.\nDuring the procedure, the patient was placed in the lateral flank position and underwent general anesthesia with endotracheal intubation. The procedure was performed through a retroperitoneal approach, and the retroperitoneal cavity was formed by blunt dissection and balloon dilation from a small incision located 2 cm above the iliac crest of the midaxillary line. After the establishment of the retroperitoneal space, four trocars were inserted on the left waist between the superior edge of the iliac spine and the inferior border of the rib. The tumor was removed completely, and renal reconstruction was then achieved with a 1/0 self-retaining barbed suture (V-Loc). Although maternal hemodynamic parameters were maintained stable and end-tidal CO2 was monitored below 35 mmHg, pneumoperitoneum pressure was strictly controlled below 12 mmHg to reduce maternal hypercapnia and fetal acidosis throughout the surgery. The operation time was 100 min with a warm ischemia time of 28 min and an estimated blood loss of 150 ml. The patient recovered uneventfully after the operation and was discharged within a week after the surgery. Blood hemoglobin was decreased postoperatively [95 g/L on postoperative day (POD) 1, 99 g/L on POD3] and back to normal on POD7 (121 g/L), while serum creatinine levels were normal throughout the perioperative period (66 mumol/L on POD1, 61 mumol/L on POD3, and 60 mumol/L on POD7). Obstetrics and gynecology consultation monitored the fetus before and throughout the operation.\nThe pathology report revealed an 8.2-cm clear RCC, Fuhrman grade 2, with negative surgical margins (Figure 2). According to the TNM classification system, it is classified as pT2aN0M0. During the 38th gestational week, a healthy male infant was born. We followed our patient every half year after surgery. Blood hemoglobin, serum creatinine, and thorax-abdominal-pelvic CT scan showed normochromic, normal renal function, and no sign of local recurrence or metastases. After 46 months of follow-up, the patient's baby is in good health and does not have any developmental birth defects. The whole treatment process is shown in Table 1.",
"gender": "Female"
}
] |
PMC7591673
|
[
{
"age": 12,
"case_id": "PMC4227511_01",
"case_text": "This diminutive structure has been investigated for its potential role in seizure generalization (Fernandez-Miranda et al.,). It is thought that epileptoform propagation from limbic sites may be linked to the motor cortex via the claustrum (Mohapel et al.,). A case study was conducted on a 12-year-old girl who presented with status epilepticus (multiple, repeated complex partial and myoclonic seizures occurred in the upper extremities and face with orofacial automatisms, eye deviation, and nystagmus) displaying psychotic behavior with agitation, severe cognitive impairment and temporary loss of vision, hearing and speech, as well as loss of orientation in time and place. Bilateral, strip-like lesions were discovered in T1 and T2 images of her claustrum and external capsule. The case indicates that lesions of the claustrum function more like gray matter disease than white matter disease. Additionally, the case study implies a functional correlation between seizures, behavioral state, and abnormalities in the claustrum (Sperner et al.,).\nIn contrast, unilateral removal of the claustrum did not lead to sensorimotor or cognitive impairment in patients receiving surgery for low-grade cerebral glioma (Duffau et al.,). So, perhaps the claustrum operates as part of a network or networks, rather than as the epicenter of a network.\nThe most common clinical association is the effect of the claustrum on memory. Claustral amyloid plaques accumulation has been implicated in the outcomes of Alzheimer's disease and aging (Morys et al.,; Fernandez-Miranda et al.,). These amyloid deposits seem to cluster in the ventral claustrum, and may disrupt limbic connections (Morys et al.,). These changes in the claustrum associated with aging, however, are subtle, appearing several years after those in the cerebral cortex become apparent. The claustrum has also been examined in cases of memory impairment associated with HIV, AIDS, Parkinson's, and Dementia with Lewy Bodies (DLB) (Kozlowski et al.,; Yamamoto et al.,; Smith et al.,; Kalaitzakis et al.,).\nOther neurological conditions have been examined in the claustrum as well. Negative correlations between anhedonia and metabolism in the claustrum have been shown in both patients with unipolar depression and bipolar disorder (BD), which may be part of overall enlargement of the basal ganglia and increase in claustral GM volume in BD (Chen et al.,). Such factors may be the result of differences in pruning between diseased and healthy populations. Severity of delusions in schizophrenia is correlated with the reduction in left claustral volume (Cascella et al.,) and schizophrenia patients with hallucinations show signs of white matter excesses (Shapleske et al.,). The claustrum is alternately reported as spared from insular gliomas, or commonly found to be invaded by such tumors (Fernandez-Miranda et al.,).\nIn Wilson's disease, abnormal brightness of T2-weighted images in the claustrum is considered one of the markers of the disease though its effects may be misattributed in the literature to its close neighbor, the putamen (Sener,; King et al.,). In fact, Wilson himself cited the possible role of the claustrum in his initial description of the disease in 1912 (though he referred to it as \"Progressive Lenticular Degeneration\") (Wilson,; Sener,). The disease, which is invariably fatal without intervention, is caused by high copper levels:and sometimes iron levels:in the brain, particularly in the basal ganglia. Symptoms include bilateral tremors of the extremities, spasticity of the limbs and face, emaciation, dysphagia, dysarthria, emotionalism, and difficulty maintaining equilibrium (Wilson,).\nBased on the summation of the micro-connectomics information gathered from centuries of histology, structural imaging, functional imaging, and clinical pathology studies, interactions have been proposed between the claustrum and every major sensory network. The extent to which these networks rely on the function of the claustrum, or to which the claustrum relies on information from these networks, remains to be investigated.\nClaustral neurons are overwhelmingly binocular; 84% respond to stimuli from either eye, while only 40% of overall cortical neurons do (Sherk and LeVay,). Responses in the claustrum to photic stimuli can be abolished by lesioning the lateral geniculate nucleus (LGN) (Edelstein and Denaro,). V1 connections may not be reciprocal, as connections from V1 to the claustrum in macaques have not been reported (Crick and Koch,).\nCortico-claustral connections from layer VI reach layer IV through the claustrum, creating an alternative route to the direct projection from layer VI to layer IV (LeVay and Sherk,). In the contralateral half of the visual field, the upper fields map to the caudal region of the claustrum, while the lower ones map rostrally. The far periphery can be mapped to the claustral surface, while the vertical meridian lies at the lower limit of the visual region. A single representation of the visual hemi-field exists as a unified map without discontinuities or duplications in the claustrum (LeVay and Sherk,).\nThe medial ectosylvian gyrus (AII) relays information from the medial geniculate nucleus to the claustrum. In fact, ablation of the entire AII results in a lack of claustral response to MGN stimulation (Edelstein and Denaro,).\nFunctional localization has not been demonstrated in the claustrum, so it is unlikely that the claustrum can influence specific muscular groups (Salerno et al.,).\nThe claustral loop to the striate cortex is involved in motion detection, but cannot discriminate the direction of motion (Edelstein and Denaro,). Most (approximately 70%) of movement-related neurons increased discharge regardless of whether the motion was a push, a pull, or a turn, while only 16% were selective to one movement. This differs from the specificity of the motor cortex itself, in which about half of the neurons are responsive to a single motion (Shima et al.,). This may be indicative of a high degree of convergence of inputs. This lack of selectivity, along with the presence of inhibitory efferents, may suggest that the claustrum generally suppresses cortical activity immediately before the initiation of movement.\nProjections to M1, pre-SMA, SMA-proper, and various subdivisions of PM and area 46 emanate from the entire rostro-caudal extent of the claustrum, with no distinct topographic or somatotopic organization. Along the dorso-ventral axis, however, these projections tend to originate in the dorsal or intermediate claustrum (Tanne-Gariepy et al.,). There is overlap of region of origin in most motor areas, but Pre-SMA and SMA-proper both uniquely show local segregation through inter-digitations. Area 46 also receives projections from the most ventral portion of the caudal claustrum, which sends minor projections to M1, the subareas of PM, pre-SMA, and SMA-proper (Tanne-Gariepy et al.,). M1 projections to the claustrum are then projected to S1, indicating a role in sensorimotor coordination (Smith et al.,).\nIn terms of oculomotor control, the mid-ventral claustrum receives projections from the frontal eye fields, and is organized topographically according to the size of saccades (Tanne-Gariepy et al.,).\nWhile there is general agreement on its heterotopic organization, there is no apparent somatotopic organization of the claustrum (Spector et al.,). Some somatic afferents to the claustrum are conveyed via the posterior spinal funiculi fibers. In addition, the anterior ectosylvian gyrus (SII) relays information from the ventral posterolateral nucleus (VPL) to the claustrum. Lesions in the VPL lead to reduced responsivity of the claustrum to skin stimulation. Marked claustral activity was noted in response to stimuli in somatic-vagal-tooth pulp. This may be indicative of trigeminal projections similar to those noted in other structures of the basal ganglia (Edelstein and Denaro,).",
"gender": "Female"
}
] |
PMC4227511
|
[
{
"age": 79,
"case_id": "PMC8273265_01",
"case_text": "A 79-year-old female presented with stage 2B T3N1M0 pancreatic cancer. The tumor arose in the pancreatic head but was felt to be unresectable due to neurovascular involvement. During an FDG-PET/CT scan for staging, the patient experienced a significant radiopharmaceutical extravasation and was reimaged the following day. The patient subsequently received chemoradiation since she was not considered a surgical candidate for tumor resection. Procedure parameters and images are compared in Table 3 and Figure 1.",
"gender": "Female"
},
{
"age": 69,
"case_id": "PMC8273265_02",
"case_text": "A 69-year-old female with a history of a T2N2aM0 breast cancer who subsequently developed metastatic skeletal disease. The patient received their first re-staging 18F-FDG PET/CT and was noted to have oligometastatic skeletal metastases. The patient received radiotherapy and then a second re-staging FDG PET/CT 15 weeks later. This second re-staging study was compromised by a significant radiopharmaceutical extravasation and was repeated 3 days later. Procedure parameters and images are compared in Table 4 and Figure 2. The extravasated image SUVmax values were understated by 53-73%.",
"gender": "Female"
},
{
"age": 81,
"case_id": "PMC8273265_03",
"case_text": "An 81-year-old male presented with a history of clinical stage T1cN0M0 prostate cancer. Post-prostatectomy, the patient had persistently elevated prostate-specific antigen levels and a 99mTc-MDP bone scan was ordered to look for metastatic disease. The bone scan image was deemed non-diagnostic by the radiologist due to significant extravasation and was not interpreted. The study was repeated 2 days later. Benign degenerative disease was noted, but no metastatic bone lesions were found. Procedure parameters and images are compared in Table 5 and Figure 3.",
"gender": "Male"
},
{
"age": 80,
"case_id": "PMC8273265_04",
"case_text": "An 80-year-old male presented with a history of bladder carcinoma that had metastasized to the liver. Initial follow-up imaging was determined to be non-diagnostic due to a significant extravasation observed on imaging and TAC data. Repeat 18F-FDG PET/CT imaging of the patient was performed the following day. Repeat imaging confirmed disease progression and identified additional uptake not seen in the prior extravasated scan:including an upper liver lesion, increased hilar node activity, and prostate uptake. Quantitative results showed an average increase in SUVmax calculations of ~25%. Procedure parameters and images are compared in Table 6 and Figure 4.",
"gender": "Male"
},
{
"age": 61,
"case_id": "PMC8273265_05",
"case_text": "A 61-year-old female presented with a history of breast cancer and malignant right pleural effusion. Follow-up imaging identified possible bone involvement and additional 18F-FDG PET/CT imaging was ordered. The restaging PET/CT images were deemed non-diagnostic due to a significant extravasation. Repeat PET/CT imaging was ordered, and the patient was imaged 5 days later. Repeat imaging showed evidence of a minor extravasation which was supported by TAC data but indicated diffuse metastatic disease with bone involvement:confirming further disease progression. Additionally, the repeated imaging clearly identified a left adrenal lesion that had appeared equivocal on the previous extravasated image and increased SUV values. Procedure parameters and images are compared in Table 7 and Figure 5.\nDosimetry results for the five extravasations are shown in Table 8. Skin and tissue effects were not observed post-imaging procedure, as expected due to the latent effects of ionizing radiation on skin and tissue.",
"gender": "Female"
}
] |
PMC8273265
|
[
{
"age": 35,
"case_id": "PMC6215577_01",
"case_text": "A 35-year-old man was admitted at the oculistic emergency room for a right exophthalmos accompanied with severe pain, periorbital swelling, redness, and mucopurulent discharge. The patient, HIV and HCV positive for 11 years, had a history of drug and alcohol addiction, including habitual marijuana smoking. Clinical examination revealed severe nonreducible exophthalmos with bulb dislocated medially and inferiorly, associated with eyelid chemosis and decreased vision in the right eye (1/10). The motility of the globe in all gazes was restricted by mechanical proptosis. Fundus examination revealed optic disc swelling associated with venous congestion. A brain MRI was performed in order to evaluate the involvement of the orbit and the brain. The examination showed an intraorbital mass that was inhomogeneously hypointense on T2-weighted images and hypointense on T1-weighted images and showed intense and inhomogeneous contrast enhancement. The mass was located in the lateral orbit cavity extending to the ethmoid and maxillary sinuses, with bony destruction, encasing and displacing the medial rectus and superior oblique muscles, optic nerve, ocular globe, and vascular structures (Figure 1).\nOn the basis of these findings and considering patient's history of HIV related diseases and drug addiction, few diagnosis have been hypothesized that included neoplastic diseases, e.g., lymphoma, and infections, in particular mycotic origin, such as aspergillosis, considering the known association with marijuana smoking. Prior to beginning any treatment, the patient was subjected to a biopsy of the orbital mass. At histology H&E stain of the tumor showed a monomorphic proliferation of plasmablastic cells that was suggestive of plasmablastic lymphoma. The patient died within a week following diagnosis for a heart attack, even before further treatment could be initiated.",
"gender": "Male"
}
] |
PMC6215577
|
[
{
"age": 58,
"case_id": "PMC10359673_01",
"case_text": "A 58-year-old male had a pancreas tail tumor incidentally discovered during a medical checkup and came to our hospital for a detailed examination and treatment. Diagnostic confirmation of PNET grade 2 (G2) was achieved based on endoscopic ultrasound-fine needle aspiration pathological findings. LDH, NSE, and ProGRP in laboratory results were within normal limits. Preoperative contrast-enhanced CT showed a persistently enhanced mass in the pancreas tail that measured 20 x 25 mm (Fig. 1a,b), significantly enlarged #11p (18 x 22 mm) (Fig. 1a) and #18 (10 x 12 mm) lymph nodes (Fig. 2a), and an equivocal #11d node (8 x 10 mm) (Fig. 1a). Whole-body SRS with SPECT/CT scanning demonstrated abnormal uptake in the primary tail tumor (Fig. 1c), as well as the #11p (Fig. 1c) and #18 (Fig. 2b) nodes, while the #11d node showed no uptake in SRS findings (Fig. 1c). Whole-body FDG-PET/CT scanning showed mild FDG uptake with a maximum standardized uptake value of 2.89 in the primary tail tumor (Fig. 1d) and mild FDG uptake with a maximum standardized uptake value of 3.42 in the #11p node (Fig. 1d), with the #11d (Fig. 1d) and #18 (Fig. 2c) nodes showing no FDG uptake. No distant metastatic lesion was indicated by SRS with SPECT/CT or FDG-PET/CT findings, and the clinical stage was determined to be T2N1M0.\nPhysicians at the Department of Hepato-Biliary-Pancreatic Surgery performed a laparoscopic resection of the pancreatic body and tail (Fig. 3a), plus dissection of abdominal lymph nodes, which included #8 (common hepatic artery nodes), #10 (splenic hilum nodes), #11 (splenic artery nodes), and #18 (inferior pancreatic nodes). A pathologic examination of the tail tumor, sized 20 x 23 mm, revealed a PNET with tumor cells small to intermediate in size, which had formed sheets and nests (G2) (Fig. 3b). Immunohistochemical findings with chromogranin A, synaptophysin, and somatostatin were positive, and the Ki-67 index was 5% (Fig. 3c-e). Pathological analyses of the lymph nodes showed that none of three in #8, none of four in #10, one (13 x 19 mm) of four in #11p, one (7 x 9 mm) of two in #11d, and one (8 x 12 mm) of three in #18 were metastatic. SSTR results of the primary tumor (Fig. 3f) showed positive staining, indicating three metastatic nodes: all of #11p, part (6 x 6 mm) of #11d, and all of #18 (Fig. 4a-c).",
"gender": "Male"
}
] |
PMC10359673
|
[
{
"age": 12,
"case_id": "PMC7224471_01",
"case_text": "VI: 3 is a 12-year-old Chinese female. At nine years of age, she presented with impairment of muscle relaxation after voluntary contraction in her lower limbs. Her upper limbs were also affected by age. The myotonia could be alleviated by continued activity (warm-up phenomenon). Her clinical manifestations also include transient weakness upon initiating movements but were not associated with handgrip or lid myotonia. The myotonia symptoms did not severely impact the quality of her life. In addition, VI: 3 showed recurrent flaccid paralysis mainly involving bilateral lower limbs in 11-year-old children. The attacks always lasted for a few hours or for a day, which usually occurred after cold exposure and vigorous exercise. Periodic paralysis was not associated with dyspnea or dysarthria. Her father (V: 7) was definitively diagnosed with hypokalemic periodic paralysis in his twenties. Her mother (V: 6) suffered from myotonia and muscle hypertrophy from childhood. Physical examination revealed normal muscle force without muscle hypertrophy or myodystrophy. The percussion myotonia was negative. The laboratory tests showed no abnormalities in creatine kinase levels. Her previous examinations in another hospital suggested that the serum levels of potassium were below the normal range during paralysis attacks. Electromyography (EMG) examination revealed myotonic potential in her four limbs. Her recurrent flaccid paralysis could be relieved by oral potassium supplementation treatment. Comprehensive analysis of the clinical symptoms, family history, positive physical laboratory findings and therapeutic effects suggested a clinical diagnosis of hypokalemic periodic paralysis in combination with MC. She did not require carbamazepine treatment to alleviate her myotonia symptoms.\nIn the family, IV: 2, V: 2 (the proband) and V: 6 showed varying degrees of muscle stiffness and hypertrophy. Their EMG examination revealed myotonic potential. They were clinically diagnosed with MC in our hospital. IV: 1, who died a natural death, and V: 3, who died in a car accident, also had muscle stiffness and hypertrophy. We speculated that they were also affected by MC. In addition, V: 2 and V: 6 responded to carbamazepine (200 mg per day) treatment. IV: 2 did not need treatment.",
"gender": "Female"
},
{
"age": 52,
"case_id": "PMC7224471_02",
"case_text": "Unlike other MC patients in the pedigree, the proband (V: 2), a 52-year-old Chinese male, was born from consanguineous parents (IV: 1 and IV: 2). He came to our hospital in April 2016 for the first time. EMG only identified myotonic potential. In 2019, the proband underwent EMG examination again, which showed not only myotonic potential but also slight muscle damage. Clinical findings are presented in Table 1.\nThe WES yielded data covering 99.73% of the target region. Three mutations were identified during the first three steps of the filtering strategies (Table 2). Then, the pathogenicity of the mutations was predicted by MutationTaster, PolyPhen-2 and SIFT. Considering the bioinformatics analysis results and ACMG guidance for the interpretation of sequence variants, we chose the F306S CLCN1 mutation and the R222W SCN4A mutation as the potential pathogenic variants.\nSanger sequencing validated the two candidate variants in the pedigree (Fig 1B). VI: 3 carried both the heterozygous c.917T>C, p.F306S, g.14710T>C CLCN1 mutation and the heterozygous c.664C>T, p.R222W, g.1718C>T SCN4A mutation. Nothing abnormal was detected in the length of DMPK gene CTG and ZNF9 gene CCTG repeats in V: 2.\nRepresentative current traces from HEK293T cells expressing WT, CLC-1_F306L and CLC-1_F306S are shown in Fig 2A-2C. The current values (pA) determined by the cell capacitance (pF) were used to calculate the instantaneous and steady-state current densities (pA/pF) and thereby establish I-V associations. The I-V curves of instantaneous currents for CLC-1 channels are presented in Fig 2D. At negative test voltages (ranging from -180 to 0 mV), the WT channel displayed large outward currents, while the two mutant channels (CLC-1_F306L and CLC-1_F306S) only produced a small inward rectification. In contrast, at positive test voltages (0-200 mV), the two mutant channels conducted outward currents, while the WT channel conducted inward currents. The average instantaneous current densities of mutant CLC-1_F306L and mutant CLC-1_F306S at -180 mV were 13.0+-1.5 pA/pF (n = 12) and 18.6+-1.6 pA/pF (n = 11), respectively. These current densities were significantly different from that of the WT channel (-288.4+-36.8 pA/pF, n = 9, P<0.001). At the resting potential of normal skeletal muscle fibers (~-85 mV), chloride ions were conducted outward (Cl- efflux) through the WT CLC-1 channel, whereas the mutant channels facilitated a small Cl- influx. Therefore, the p.F306S and p.F306L mutations in the CLCN1 gene disrupted the chloride ion balance across the cell membrane.\nThe I-V curves of steady-state currents revealed that the reversal potentials of the mutant channels CLC-1_F306L and CLC-1_F306S were +50 and +160 mV, respectively and were markedly shifted in the depolarizing direction compared with the 0-mV reversal potential of the WT channel (Fig 2E).\nThe voltage-dependent activation curves of the WT and mutant channels, calculated from tail currents at -105 mV, are presented in Fig 2F. The V1/2 of the mutant channels were markedly more depolarized relative to the WT channel (F306L: 91.1+-2.1 mV, n = 12; F306S: 127.0+-5.9 mV, n = 11; WT: -49.2+-1.8 mV, n = 9, P<0.001), with a significant alteration in the slope factors (WT: 17.4+-1.6 mV, n = 9; CLC-1_F306L: 33.6+-1.7 mV, n = 12; CLC-1_ F306S: 49.2+-3.3 mV, n = 11, P<0.001). These results suggested that, compared with the WT CLC-1 channel, the voltage-dependent activation of two mutations at position 306 in the CLC-1 channel markedly shifted toward a positive potential.",
"gender": "Male"
}
] |
PMC7224471
|
[
{
"age": 25,
"case_id": "PMC4602942_01",
"case_text": "A 25-year-old man was admitted to our hospital with a headache. However, the patient had no vomiting and convulsion of the limbs. General physical examination and neurological examination showed no abnormalities. Magnetic resonance imaging (MRI) revealed a round cystic lesion with solid part in the right cerebellum (Figure 1). The cyst appeared hypointense on T1WI and hyperintense on T2WI (Figure 1A and B). The solid part was enhanced after gadolinium administration (Figure 1C and D). After 4 days, the tumor was resected. A soft, reddish, rich blood supplied mass with integral capsule was found. Histological examination of the tumor specimen exposed a highly vascular tumor containing abundant capillary vessels and stromal cells intermingled with a large number of red blood cells that certified the occurrence of the intratumoral hemorrhage (Figure 2).\nThe postoperative course was uneventful. A computed tomography (CT) scan without contrast infusion was taken 1 day after the operation and presented a low-density shadow on the operative region (due to tumor resection) and no abnormal density lesions on other regions (Figure 3A). The MRI with contrast infusion revealed no enhanced lesions in the cerebellum (Figure 3B). Seven days later, the final pathological diagnosis was hemangioblastoma. The patient was discharged without discomfort.",
"gender": "Male"
}
] |
PMC4602942
|
[
{
"age": 50,
"case_id": "PMC9632847_01",
"case_text": "T2 received the same textual information (i.e., identical to T1), along with the additional illustration. The illustration visualized the relationship of how the older generations and one's own generation were benefiting the current generation and future generations via disposable plastics. Owing to the wide range of participant age groups, the illustrations of the participants' own generation and previous generations were changed according to age group (under 50 years or 50 years and older). Because those over 50 years old were less likely to have living parents, we presented older people in the traditional clothing that their parents and grandparents wore. This illustrative framework was based on our previous survey of nudges for increasing positive attitudes toward air pollution caused by industrialization (S2 Appendix in S1 File).\nThe respondents were again asked the same question as for Qpre before the intervention (Qpost). Both of the questions ascertained the perceived risks of disposable plastics on Future Generations and Yourself before and after receiving the designed messages.\nThe statistical analyses comprised three parts. The first part was analysis based on descriptive statistics for the initial status of respondents, such as the attitudes toward plastic recycling and COVID-19. The second part was a difference-in-difference (DID) estimation to identify the intervention effects by comparing a control group with treatment groups on how the attitude change differed across the groups. Then, correlation analyses were performed to investigate how perceived support by older generations via recycling disposable plastics and perceived support of future generations that benefit from the recycling were correlated with the message effects. Estimation of the message effects based on descriptive statistics was also conducted by segment, such as sex and age. The third part was a panel analysis based on forced-entry linear regression models to extract the intervention effects more precisely by separating the influence of the respondents' basic attributes and personality traits.\nTo identify our designed message effects in all the analyses, we set two separate explained variables, which were perceived risks of disposable plastics to future generations (Future Generations) and those to the respondents themselves (Yourself). Although we evaluated both of the explained variables in parallel, our main target variable was Future Generations to determine the effectiveness of the nudging message.\nStatistical significance of the differences across our segments was calculated using the Wilcoxon signed-rank test. All error bars in graphs were computed as 95% confidence intervals based on t-distributions. All of these analyses were performed using Matlab R2021b with the Statistical and Machine Learning Toolbox.",
"gender": "Unknown"
}
] |
PMC9632847
|
[
{
"age": 50,
"case_id": "PMC10328123_01",
"case_text": "A 50-year-old man of unremarkable past health presented with palpitation and dyspnea for 2 days. His blood pressure was 85/60 mmHg, pulse 160 beats/min, and afebrile. He reported no prior febrile episodes. No murmur was detected. Electrocardiogram showed typical atrial flutter. He received amiodarone with no improvement. Transthoracic echocardiogram was limited by poor acoustic window, but showed elevated inflow gradient across the tricuspid valve with the mean pressure of 27 mmHg [Figure 1]. Before direct current cardioversion, transesophageal echocardiogram (TEE) was performed demonstrating a large 3 cm right SVpA causing tricuspid inflow obstruction [Figure 2]. No sign of aneurysm rupture was evident on color Doppler. The aortic valve was trileaflet; the right and left coronary leaflets were mildly thickened with vegetation [Figure 3 and Video 1]. Sinus rhythm and normotension were restored following cardioversion. Serial blood cultures were negative. Vancomycin, ceftriaxone, and rifampicin were given as an empirical treatment for culture-negative infective endocarditis. Cardiac computed tomography (CT) confirmed the echocardiographic findings [Figure 4] demonstrating a narrow-necked pseudoaneurysm arising from the right sinus of Valsalva measuring 3.1 cm (width) x3.5 cm (length) x2 cm (height). While the patient was being prepared for surgery, he suddenly deteriorated into pulseless electrical activity and could not be resuscitated. On autopsy, vegetation was found on the aortic valve consistent with infective endocarditis as well as rupture of the right SVpA.",
"gender": "Male"
}
] |
PMC10328123
|
[
{
"age": 25,
"case_id": "PMC6562175_01",
"case_text": "A Caucasian female sought care at 22 years of age for evaluation of a mass characterized by progressive growth located laterally in the right breast, measuring 3.3 cm; she underwent surgical excision, with anatomic-pathological examination suggestive of FA. One year later, the patient had a palpable mass of 4.7 cm in the same location, and a lumpectomy was performed, with a repeated diagnosis of FA. At eight and 12 months thereafter, two new tumors, both 4.5 cm, were resected, and benign PTs were diagnosed with compromised resection margins. After another eight months, at the age of 25, three new lesions appeared; all nodules were excised, with borderline PT diagnosis, positive margins for the largest (3 cm) and benign PT for the other two.\nOver time, a 6-cm scarring lesion was presented, laterally in the right breast, consequent to the previous procedures, and thickening of the underlying tissue, without phlogosis (Fig. 1). On palpation, no new nodules or axillary lymph nodes were identified. The immuno-histochemical examination showed positivity for vimentin, calponin, Ki-67 and estrogen receptor in the epithelial component. Mammography, ultrasonography (US) and magnetic resonance imaging (MRI) showed an anechoic collection measuring 3.0 x 1.0 cm in a surgical site of the right breast, with persistent and slightly irregular late enhancement in the inferolateral margin of the collection, and an area between 0.4-0.7 cm, correlated with the previous pathology. Thoracic CT and abdominal US showed no metastases. Genetic testing revealed uncertain significance variants in BRCA1 and BRCA2, without mutation in PT53.\nAll lesions occurred in the right breast and were asymptomatic. Because of the history of frequent relapses, a right-sided skin-reducing mastectomy was chosen, followed by reconstruction. The intraoperative frozen section showed a scarring lesion underlying the surgical marking and another nodular hemorrhagic lesion in a super-medial quadrant with resection margins greater than 1.0 cm in relation to the adjacent tissues. On the left, reduction mammaplasty was chosen for symmetry, because of the patient's large breast volume (Fig. 2, Fig. 3). The pathology showed no residual PT. At 8-month follow-up, there was no relapse of the lesions on clinical examination or US (Fig. 4).",
"gender": "Female"
}
] |
PMC6562175
|
[
{
"age": 17,
"case_id": "PMC7086431_01",
"case_text": "A 17-year-old lady, nulliparous, was admitted in the gynecological ward with complaint of abdominal swelling and loss of weight. Her menstrual history was unremarkable. On examination, a palpable abdominopelvic mass was detected; the ultrasound scan revealed a left ovarian cyst (15 x 17 cm), no free fluid was seen, the rest of her abdominopelvic sonographic examination was normal, and the initial clinical diagnosis was one of left ovarian cyst. Her Hb was 10.3 g%; the urinalysis, HIV test, hepatitis, and beta hCG were unremarkable. A laparotomy was planned three days later, and perioperatively, the mass resembled a hemorrhagic solid tumor as shown in Figure 1. Grossly, the left ovarian mass measured 15.0 x 20.0 x 8.0 cm and was brownish and hemorrhagic, with solid and cystic areas, irregular surface with adhesions of the colon to the mass, and no ascites. The right tube and ovary appeared normal with a grossly normal uterus, and a left salpingo-oophorectomy was performed and hemostasis achieved. She was given one unit of blood. The specimen was sent to the laboratory for histology and the result came out after 24 days and revealed diffuse lymphoma with largest cells vs. carcinoid tumor with requirements of doing immunohistochemistry (Figure 2). Her postoperative findings were unremarkable, and she was discharged on her 6th postoperative day.\nShe came for review a month later without any complaint, her hemoglobin was 13.2 g%. Two months later, she came back again with lower limb swelling progressively increased in a week as shown in Figure 3. She has received ibuprofen and cloxacilline as an outpatient unsuccessfully. Her last menstrual period was 21 days back.\nOn examination, she was in a fair general condition, alert, afebrile on touch, no pallor, no jaundice with general edema, and no palpable lymph nodes. Her weight was 42 kgs. Her blood pressure was 90/60 mmHg.\nThe abdomen was not distended, but with palpable mass, firm and tender in the hypogastrium.\nThe vulva was edematous with lower limb swelling.\nUrea: 60.95 mg/dl, creatinine: 10.5 mg/dl (ten times higher than the normal range)\nSerum hCG was negative\nHemoglobin: 10.4 g/dl\nWBCs: 3,700\nThe laboratory tests revealed: \nThe ultrasound scan revealed a mass of 11.6 x 9.6 cm in the hypogastrium with bilateral hydronephrosis.\nThe diagnosis of metastatic ovarian cancer was made with renal failure.\nShe was given IV hydrocortisone 200 mg three times a day with 2.5 l of normal saline and IV lasix 80 mg. The urine output was monitored, and oliguria was noticed despite the dose of lasix.\nShe was given IV ceftriaxone 1 g two times a day and IM diclofenac 75 mg two times a day.\nThe patient did not improve and had persistent abdominal pain, lower limb swelling, and oliguria despite the kidney challenge and her treatment. On day 8, her relatives requested for her to be discharged for further management in Beni which is close to their home.\nLater on, we heard that the patient was given some traditional medicine, and the patient improved well and went back to a training center where she was learning hairstyle. For a year, she was doing somehow with progressive weight loss as reported by her relatives.\nOn a bad note, we heard that she was taken to the general hospital and was managed as an outpatient but passed on two days after the check up in an unrevealed picture.",
"gender": "Female"
}
] |
PMC7086431
|
[
{
"age": 76,
"case_id": "PMC4331673_01",
"case_text": "A 76-year-old Caucasian woman was found to have implant-associated anaplastic lymphoma with pathologically proven nodal involvement and was successfully treated by implant removal, chemotherapy, and radiotherapy. She had gel breast implantation performed 20 years prior to presentation. These were later replaced by saline implants. One year before presentation the saline implants were leaked and replaced with gel implants. She developed a recurrent fluid collection involving her right breast (Figure 1). A drain was placed and yielded minimal output before being removed 1 week later. Cytology of the fluid demonstrated atypical appearing lymphocytes. The fluid later reaccumulated, and right axillary lymphadenopathy was noted on physical exam (largest node 5.1 cm on ultrasound). Core needle biopsy of the node revealed rare atypical cells.\nShe underwent capsulectomy and right axillary nodal excisional biopsy with bilateral implant removal in 2011. On histopathologic analysis, anaplastic large-cell lymphoma (ALCL), anaplastic lymphoma kinase (ALK)-negative was demonstrated in the fibrous capsule, cystic fluid, and axillary lymph nodes (Figures 2 and 3). Imaging with CT and PET scans demonstrated residual right axillary lymphadenopathy with FDG avidity, as illustrated in Figure 4. Bone marrow analysis was performed and showed no evidence of lymphoma involvement. The patient was staged as Ann Arbor stage IIE. She was treated with six cycles of cyclophosphamide 750 mg/m2, doxorubicin 50 mg/m2, vincristine 2 mg, and prednisone. Prednisone required a dose reduction from 100 to 75 mg after the first cycle to minimize hyperglycemia secondary to diabetes mellitus type II. Pegfilgrastim 6 mg was injected each cycle for hematopoietic support. Ciprofloxacin 500 mg BID was used daily for bacterial infection prophylaxis. After cycle 2, she began to display adverse effects of nausea grade 2, oral mucositis grade 1, and dysgeusia grade 2 per National Cancer Institute Common Terminology Criteria for Adverse Events grading scale version 4.03. Tetrahydrocannabinol was administered for treatment of nausea and anorexia. Weight loss of grade 1 occurred by the end of therapy. Interval PET and CT imaging were performed after cycle 2, demonstrating metabolic activity of SUV 0.88 in the right axillary lymph nodes, a partial response. Repeat PET imaging was performed after cycle 4 of chemotherapy, confirming complete response to treatment.\nAdjuvant radiation therapy was then delivered to the right breast, axilla, and right supraclavicular nodes to 30.6 Gy in 1.80 Gy fractions, finishing in January of 2012. A monoisocentric technique was used with breast tangents matched to a field covering the supraclavicular nodes and high axilla. The axilla levels 1-3 were contoured and a lightly weighted posterior axillary field was used to bring the volume up to the prescription dose (Figure 5). With therapy, the patient experienced grade 1 dermatitis manifested as faint erythema within the treatment field. Two-year follow-up with PET imaging and clinical evaluation showed no evidence of disease. The patient wished to have breast augmentation again. She underwent silicone gel implant placement bilaterally and has been followed for an additional year without evidence of disease.\nPrimary breast lymphomas represent about 0.1-0.5% of total breast tumors, and approximately 3% of non-Hodgkin lymphomas of extranodal sites. Tumors of ALCL histology represent 2% of adult non-Hodgkin lymphomas and are the second most common peripheral T cell lymphoma. The entity of breast implant-associated ALCL was first described by Keech and Creech in 1997, and currently at least 60 cases have been described in the literature. A study in the Netherlands estimated that the incidence of breast implant-associated ALCL is 1 out of 500,000 per woman with prostheses per year, using a case-control model with breast lymphomas other than ALCL as the control. However, there has been controversy regarding the level of risk associated with breast prosthesis implantation. The FDA reports that 5-10 million women have undergone breast implantation, leading to a possible estimation of breast-associated ALCL incidence of 1:80,000 to 1:170,000 given the 60 reported cases thus far.\nMorphologically, ALCL is composed of large blastic cells with pleomorphic, often horseshoe-shaped or multiple nuclei. Growth is in a cohesive pattern often involving lymph node sinuses with a variable composition of granulocytes and macrophages. In breast-associated and cutaneous ALCL, the cells are CD30 positive on cytogenetic studies and negative for ALK. In contrast, systemic ALCL is characterized by positive ALK. Those who present with a mass rather than an effusion have a higher risk of failure or relapse. Various treatment regimens have been employed including surgery (implant removal) followed by observation, chemotherapy alone, chemotherapy and radiation, and radiation alone. Patients who present with disease limited to an effusion surrounding the fibrous capsule surrounding the implant have been shown to have a favorable outcome with observation; however, there are rare cases of advanced and treatment-resistant disease leading to fatality. The ideal treatment schema is yet to be elucidated.\nWe report a locally advanced case of breast implant-associated ALCL at our institution. Pathologic axillary nodal involvement by breast implant-associated ALCL is rare: only four cases of pathologically confirmed disease of the axillary nodes have been described. Of the 60 cases reported, workup for axillary nodal involvement was carried out in 29, 10 of which were found to have clinical evidence of axillary lymphadenopathy. Four of these were confirmed pathologically; our patient represents the fifth.",
"gender": "Female"
}
] |
PMC4331673
|
[
{
"age": 48,
"case_id": "PMC2892671_01",
"case_text": "A 48-year-old woman (weight: 108 kg, height-170 cm) was scheduled for a laparoscopic cholecystectomy because of cholelithiasis. At the preoperative assessment she reported postoperative apnoea following a Caldwell-Luc procedure at the ENT-OR in 1981. A prolonged effect of succinylcholine had been confirmed by a dibucaine number of 10, written on a crumpled warning card. The patient herself was absolutely clear about the condition of her butyrylcholinesterase deficiency. Her medical history showed an appendectomy, hypertension, and a trigeminal neuralgia due to repetitive sinus infections. Current medication was amitriptyline, gabapentin, diclofenac, omeprazole, metoprolol, and acetaminophen combined with codeine. \nInduction of anaesthesia was carried out with fentanyl and propofol. To facilitate tracheal intubation 100 mg succinylcholine (0.9 mg/kg) had been administered unintentionally. Maintenance was performed with intermittent dosages of fentanyl, morphine and a continuous infusion of propofol. The surgical procedure lasted 90 minutes and was done uneventfully.\nMonitoring of neuromuscular function was started using acceleromyography (TOF-Watch SX), by performing intermittently a \"train-of-four\". Determination of the supramaximal stimulus could not be performed, as deep neuromuscular blockade was already induced. Anaesthesia, using propofol continuously in combination with intermittent doses of morphine, and neuromuscular monitoring were continued until recovery of the TOF-ratio above 90%; at this value it was assumed that the patient could breathe without help. Recovery of neuromuscular function took more than seven hours. The first twitch was seen 87 minutes after the administration of succinylcholine. The course was uneventful although the patient was emotional and anxious postoperatively we were able to regain her trust after several talks.\nAfter informing this adverse event to the patient and her partner, she gave permission to take blood samples for quantitative and qualitative analysis and for molecular genetic investigation.\nThe plasma concentration of cholinesterase was 2520 U/l (ref: 4800-12000 U/l) and the dibucaine number was 8. These results are indicative for a homozygous atypical variant. Because of the very long clinical duration of action we did not limit molecular genetic investigations to known BCHE variants but decided to sequence both strands of the complete BCHE coding sequence. This identified a homozygous A- as well as a homozygous K-variant. The A-variant (209A > T, leading to Asp70Val) is most causative for the clinical feature and the K-variant (1615G > A, leading to Ala539Thr) contributed to the markedly prolonged muscle relaxation and the dibucaine number of 8. The clinical significance of the K-variant as a single mutation has been described by Gatke et al..",
"gender": "Female"
}
] |
PMC2892671
|
[
{
"age": 30,
"case_id": "PMC3245192_01",
"case_text": "A 30-year-old female patient first discovered glycosuria 3 years prior to being examined at a medical institution for the condition. The patient initially sought medical treatment for a floating spot in her right eye, and after it was determined that this was due to vitreous hemorrhage, she was referred to our institution. Best corrected visual acuity of her right and left eyes at her initial visit was 10/20 and 20/20, respectively. Similar to her father and grandfather, the patient had white hair. She had dystopia canthorum identified by calculation of the W index (2.01), but did not have sensorineural hearing loss. Although hypochromic iris was observed in the superior iris between the 10 and 2 o'clock positions in her right eye, her entire left eye exhibited hypochromic iris (Figure 1). Mild anterior and posterior subcapsular cataract was found in both eyes, and hypopigmentation of the fundus was seen in the superior part of her right eye. This eye also had a huge neovascularization on the optic disc that was 7 discs in diameter and was surrounded by preretinal hemorrhage. Conversely, her left fundi showed hypopigmentation of the fundus in the entire region of the left eye, and dot hemorrhages were observed all over the left fundi. However, no neovascularization could be seen microscopically (Figure 2). Optical coherence tomography seemed to demonstrate slight outer retinal atrophy in the left eye (Figure 3). Fluorescein angiography showed a huge neovascularization on the optic disc in the right eye. Only a tiny neovascularization was noted on the left eye (Figure 4). Gene analysis revealed the presence of a PAX3 gene homeobox domain mutation which was detailed as mutation in exon 6: F267I (801T changed to A), and led to her being diagnosed as Waardenburg syndrome type 1. Magnetic resonance imaging and magnetic resonance angiography showed that there was no obstructive region at either of the internal carotid arteries or ophthalmic arteries. We performed panretinal photocoagulation in both eyes using a multicolor photocoagulation laser system (Novus Varia , Lumenis Ltd, Yokneam, Israel). Since the yellow light laser (wavelength 561 nm) was invalid for the hypopigmented areas of the fundus, we chose to use the green light laser (wavelength 532 nm) in order to perform panretinal photocoagulation over the entire extramacular area. Due to the diabetic retinopathy, tractional foveal detachment in her right eye and mild vitreous hemorrhage of her left eye occurred at 10 months after panretinal photocoagulation. Because of this, we then carried out pars plana vitrectomy in both eyes. At approximately 2 years after her surgery, her condition normalized, and at the present time, her best corrected visual acuity remains at 20/30 and 20/20 in her right left eyes, respectively.",
"gender": "Female"
}
] |
PMC3245192
|
[
{
"age": 51,
"case_id": "PMC5362702_01",
"case_text": "A 51-year-old male presented to a private orthodontic practice for initial assessment. His medical history was unremarkable and he was not on any medication at that time. During intraoral examination, a 1 x 1 mm translucent nodule with a smooth round surface was noted. It was located in the attached gingiva between the lower left mandibular canine and first incisor. The nodule was asymptomatic, cystic in appearance, fluctuant, and noncompressible (Figure 1). Pulp testing of his lower left canine and central incisor indicated normal pulp vitality. Radiographically, there was no finding suggestive of osseous involvement. The patient was unaware of the lesion prior to this assessment. Complementing his oral assessment, he also had bilateral agenesis of his lower lateral incisors and first premolars (Figure 2). Based on the clinical and radiographic findings, the provisional diagnoses were salivary gland tumor or cystic lesion of the gingiva.\nDue to the size of the lesion, an excisional biopsy was performed under local anesthetic infiltration. An incision was made in the overlying mucosa and the lesion was completely dissected from the adjacent tissues. The specimen was fixed in 10% buffered formalin and sent to the Oral Pathology Laboratory of the Sao Leopoldo Mandic Dental Institute and Research Center for histopathologic examination. On macroscopic inspection, the material consisted of a nodular fragment of soft tissue, measuring 5 x 3 x 2 mm, with smooth surface, whitish coloration, and friable consistency. Histological sections revealed a cystic cavity lined by two or three layers of odontogenic epithelium (Figure 3), exhibiting focal epithelial plates containing clear cells (Figure 4). The histopathologic diagnosis was of a gingival cyst of the adult.\nThe sutures were removed 1 week postoperatively and the patient reported minimal discomfort. After one month, the patient returned for follow-up when complete resolution of the lesion was observed. The patient is currently under regular follow-up with satisfactory healing and no relapse for over 15 months. Written consent was obtained from the patient for publication of the images relating to his case.",
"gender": "Male"
}
] |
PMC5362702
|
[
{
"age": 44,
"case_id": "PMC5791444_01",
"case_text": "A 44-year-old woman came to our attention for a right simple ureterocele with Grade III hydronephrosis, discovered during gynecological assessment for light stress urinary incontinence (SUI) with Stage I cystocele. A computed tomography (CT) scan confirmed a 7 cm x 4 cm right intravesical ureterocele with Grade III of hydronephrosis [Figure 1]. She underwent an endoscopic incision of the ureterocele on its basis under spinal anesthesia. A bladder catheter was placed and removed after 24 h. At the postoperative visit, she reported a bulging mass protruding in the vagina. A flap of mucosa coming out from her urethra was noted and manually reduced. At the ultrasound, no right hydronephrosis was detected. The following day, the patient returned with the flap protruding into the urethra, such as demonstrated by cystoscopy and CT scan findings [Figure 2]. An endoscopic resection of the redundant part of the ureterocele was programmed. Final histopathological assessment showed normal mucosa. After 24 months, she was asymptomatic with no history of renal colic or urinary tract infection (UTI). At the ultrasound examination, no right hydronephrosis was revealed.",
"gender": "Female"
}
] |
PMC5791444
|
[
{
"age": 44,
"case_id": "PMC5368395_01",
"case_text": "The patient was a 44-year-old woman with a lifetime history of low VWF and clinically significant bleeding manifestations. Her disease manifested with excessive bleeding including menorrhagia and epistaxis. Laboratory evaluation confirmed type 1 VWD with ristocetin cofactor activity of 38%, von Willebrand antigen level of 41%, factor VIII level of 60%, and a normal von Willebrand factor multimer distribution. The patient had type A blood and abnormal Platelet Function Assay (PFA) markedly prolonged clotting times with both collagen/epinephrine and collagen/ADP stimulation. The patient previously underwent a DDAVP challenge test which more than doubled her ristocetin activity after administration of 20 mcg of intravenous DDAVP. This challenge test was not followed by any complications. She presented to the pain clinic with a long-standing history of low back and bilateral lower extremity pain. Over the years, she had tried a variety of medications, multiple episodes of physical therapy, and other conservative care without significant improvement. MRI imaging of the lumbar spine revealed an annular tear and disc bulge at L5-S1. After discussion of risks versus benefits of the procedure and the need for consideration of DDAVP to reduce the risk of bleeding, the patient underwent an infusion of DDAVP 0.3 mcg/kg receiving a total of 22 mcg over a period of 30 minutes immediately before the procedure. The patient was not given any specific instructions for fluid restriction postoperatively. Bilateral L5-S1 transforaminal epidural steroid injections were carried out. Once needle position and good contrast spread along the nerve roots were confirmed, an injection of 1 mL of 0.25% bupivacaine and 40 mg methylprednisolone was carried out on each side. Although the procedure was performed without incident, the patient experienced persistent dizziness and a nonpositional headache early the next day. Thorough investigation, including serial serum and urine electrolyte evaluations, revealed findings consistent with hyponatremia (serum sodium: 125 mmol/L), which was a decrease from baseline serum sodium of 138 mmol/L. Further investigation also revealed excessive water intake of 80 ounces per day that may have contributed to the acute onset of hyponatremia. The electrolyte disorder was gradually corrected over a period of 24 hours through fluid restriction and administration of sodium with complete resolution of symptoms. Serum sodium went from 125 mmol/L to 128 mmol/L at the 6th hour after diagnosis, to 134 mmol/L at the 10th hour, and then to 139 mmol/L at the 18th hour after diagnosis and remained at 136-139 mmol/L for the next several days to weeks on outpatient follow-up.",
"gender": "Female"
}
] |
PMC5368395
|
[
{
"age": 70,
"case_id": "PMC2738499_01",
"case_text": "The patient was a 70-year-old woman, who has been diagnosed with intermediate-grade, CD 20-positive, B-cell non-Hodgkin lymphoma, involving a left intraparotid lymph node. Staging workup demonstrated stage 1-A disease. Treatment plans for the patient included three courses of CHOP (cyclophosphamide, hydroxydoxorubicin, vincristine [Oncovin], and predisone) chemotherapy plus rituximab (chimeric CD 20 monoclonal antibody), to be followed by involved field radiation. After the first cycle of chemotherapy in July 2001, neutropenia developed in the patient after both the second and third cycles of chemochemotherapy. The third cycle of chemotherapy was administered on September 11, 2001. Four days later, she was treated with oral levofloxacin for low-grade fever. On day 7 after chemotherapy, she was admitted to the hospital with fever, cough, chills, rhinorrhea, joint aches, decreased appetite, lethargy, and lightheadedness. She had no recollection of any ill contacts or insect bites. She was a resident of southern Nassau County, New York, and did not have a history of travel. Physical examination was within normal limits. The patient was neutropenic; G-CSF was continued, and she was given cefipime and gentamicin. One day after admission, she continued to have fever and experienced mild headaches that responded to acetaminophen. Urine cultures showed penicillin-sensitive enterococci, and blood cultures were negative. Two days after admission, the patient continued to have fever, headaches, and dizziness. A computed tomography (CT) scan of the brain revealed no acute cerebral processes. On the 3rd day after admission, the patient was noted to be confused. Further deterioration of mental status was noted, with incomprehensible speech, but she was able to follow commands. Arterial blood-gas analysis showed an acute respiratory acidosis pattern, and the patient was subsequently intubated and transferred to the intensive care unit. The patient had a hypotensive episode secondary to atrial flutter, which required cardioversion for stabilization. Ceftriaxone and ampicillin were added to the antibiotic coverage, and antifungal treatment was also initiated with lipid complex amphotericin B. After the patient's hematologic parameters improved, G-CSF was discontinued on day 9 of hospitalization, and the patient continued to be afebrile. Because of the clinical picture of encephalitis and because the patient lived in an area where WNV was endemic, lumbar puncture was performed on day 8, and a CSF specimen was sent to the New York State Department of Health laboratories for comprehensive PCR testing. Renal tubular necrosis developed in the patient, leading to acute renal failure by day 10, with further deterioration of her mental status. Dialysis was initiated on day 16, and antibiotic therapy was discontinued on day 17 as the patient remained afebrile and the neutropenia was resolved. The patient remained unresponsive, staphylococcal septicemia developed, and she died on day 35 of hospitalization. Autopsy showed a small focus of perivascular lymphocyte cuffing in the mamillary bodies of the brain, consistent with viral encephalitis. No evidence of residual lymphoma was found.",
"gender": "Female"
}
] |
PMC2738499
|
[
{
"age": 38,
"case_id": "PMC3003993_01",
"case_text": "A 38-years-old man was diagnosed a IIA stadium IgD-k (MM). He immediately underwent chemotherapy (two DAV cycles and 4 ProMECE-CytaBOM cycles) and, one year later, bone marrow transplant (BMT). One month after BMT he developed a GVHD with skin and articular involvement. When he was 41 years old he developed muscular symptoms (myalgias and hyperCKemia). He underwent a skeletal muscle biopsy which led to a diagnosis of polymyositis: he was treated with steroids for some months and with azathioprine for three years with complete disease remission. \nAt age of 42-years myeloma relapsed: the patient was treated with thalidomide for six years with good clinical remission, but progressively increasing levels of serum IgD were demonstrated.\n Six years later (at age of 48 years), the patient came to our observation for a new onset of neuromuscular symptoms: distal lower limb hypopallaesthesia, proximal limb hypotrophy, lower limb girdle weakness, hyperCKemia. Conduction studies examination showed changes suggestive of axonal polyneuropathy associated with a myopathic pattern on needle EMG investigation. \n He underwent both muscle and peripheral nerve biopsy to discriminate between myositis (paraproteinemia versus GVHD), amyloidosis, and thalidomide toxicity. Conventional histological/histochemical studies along with immunohistochemistry for HLA, membrane attack complex (MAC), and IgD, were performed on both skeletal muscle biopsies and peripheral nerve cryostat sections. CD8, CD4, CD19, and CD68 immunohistochemistry was performed on skeletal muscle only. The first muscle biopsy showed an inflammatory pattern with necrotic fibres, macrophage invasion (CD68 positivity), rare interstitial cellular infiltrates, rare CD8 and absence of CD4 lymphocytes, widespread sarcolemmal HLA positivity, and no MAC detection in capillaries. The second muscle biopsy showed the same inflammatory pattern seen in the previous one plus an involvement of blood vessels (several perivascular cellular infiltrates in muscle with mild MAC positivity) and a slight increase of endomysial connective tissue. Sural nerve biopsy demonstrated both demyelinating and axonal aspects. No inflammatory infiltrates, but positive immunohistochemistry for HLA and MAC and dilated endoneurial capillaries were observed. \n Congo Red was negative in both skeletal muscle and peripheral nerve.\nDirect immunofluorescence for IgD was positive in both muscle biopsies: in the first one, IgD mainly accumulated along the sarcolemma; in the second one necrotic fibres and endomorphism connective were also strongly reactive. Conversely, nerve biopsy was IgD negative (see Figure 1). \nMM is associated with amyloidosis. In our case, no Congo Red positivity was observed in both muscle and nerve tissues. Cryoglobulins were absent in serum and autoimmune diseases were excluded by the absence of the most common antibodies. \nMyositis during chronic GVHD presents CD8-positive interstitial infiltrates with rare macrophages. Our patient's biopsies showed a predominance of macrophages: these results do not favour GVHD diagnosis even if a systemic involvement was evident when the first myositis episode occured.\nThalidomide causes a neuropathy without inflammatory signs. In our patient, nerve biopsy showed a mixed pattern with evidence of inflammation at immunohistochemistry. \nKiprov and Miller demonstrated IgG deposits along basement membrane and myelin sheath in case of myositis or demyelinating neuropathy during MM.\nGiven the presence of sarcolemmal and cytoplasmic deposits of IgD in both muscle biopsies, we hypothesize that myositis in our patient is paraproteinemia-correlated. The presence of IgD deposits correlates with high blood levels of monoclonal proteins at least in the second episode. \nConversely, polyneuropathy could be caused by thalidomide, though inflammation cannot be excluded (HLA and MAC positivity) even if we did not observe IgD deposits. \nThis is the first case of concurrent polyneuropathy and myositis in IgD MM. In our patient neuromuscular symptoms subsided after steroid therapy.",
"gender": "Male"
}
] |
PMC3003993
|
[
{
"age": null,
"case_id": "PMC5502805_01",
"case_text": "Human red blood cells express a wide variety of antigens. Three in particular (A, B and Rh) are commonly identified in clinical laboratories for purposes such as cross-matching blood for transfusion. Blood donors and blood recipients are characterized as having A, B, AB or O blood and as being Rh positive or negative. Except in rare instances, an individual's blood type does not change over his or her lifetime.\nToday, most blood banks report these antigens together as the result of a single test; e.g., A+, B-, AB+, O-, etc. However, in the past, these results were reported across two tests: the ABO test to report types A, B, AB and O, and the Rh test with the possible results \"positive\" and \"negative\". Even earlier, the ABO test results were reported as two separate tests for the A and B antigens. A patient could have a positive results for both of these tests (type AB), one of these tests (type A or B), or neither of these tests (implying type O).\nThis heterogeneity has been well-documented as a challenge for dealing with pooling data from, or sharing them between, multiple health care sites.(, also: Huff SM, personal communication; inspiring) As a repository of data from multiple sites over 40 years, BTRIS often presents users with this type of challenge. We chose it as a case study for the normalization of heterogeneous data, since proper normalization should result in patients having consistent blood types over time, in effect serving as their own gold standards.",
"gender": "Female"
}
] |
PMC5502805
|
[
{
"age": 62,
"case_id": "PMC7071810_01",
"case_text": "In October 2016, a male, 62-year-old nonsmoker and nondrinker presented with productive cough that had lasted for a week. He was diagnosed with stage IVA right upper lobe lung adenocarcinoma (cT4N2M1a, ECOG 0), with obstructive pneumonia and right-side malignant pleural effusion. The time course of his disease starting from diagnosis and his treatment is displayed in Figure 1. The patient's lesion was found to be EGFR wild-type and ALK-negative by standard clinical testing. Furthermore, chemotherapy was not considered due to the patient's pneumonia, which was treated by antibiotics. Instead, the patient initially underwent radiotherapy (6400 cGy/30 FX).\nIn agreement with current guidelines, broad molecular profiling was performed to identify treatment-relevant genomic alterations, and informed consent was obtained for the use of the resulting data. For analysis, a formalin-fixed paraffin-embedded (FFPE) sample biopsied from the right upper lobe was used. Areas with high tumor content were identified by H&E stain, and subsequently, a macrodissection was performed to enhance the tumor cell proportion. The ACTOnco panel from ACT Genomics, Ltd. was used for comprehensive genetic testing. The assay performs next-generation sequencing of all coding exons of 409 cancer-related genes to detect single nucleotide variants, small insertions and deletions, and copy number variants. Details regarding this panel have been previously published. Sequence variants with a coverage of at least 25 reads and an allele frequency of >=5% for regular variants and >=2% for actionable variants were considered. An additional NGS test able to detect the presence of 72 known fusion transcripts for ALK, ROS1, RET, and NTRK fusion genes was also performed.\nThere were no fusion genes detected in the patient's sample. However, 27 sequence variants, including TP53 Y220C, were identified (Table 1). The tumor had a stable copy number profile, and no copy number gains or losses were detected, with the exception of amplification of cytoband 17q12. This amplification included CDK12, PGAP3, and the clinically relevant gene ERBB2 (Figure 2). The observed copy numbers for those genes were 11.5, 15, and 15, respectively. However, the observed copy number does not take tumor purity into account, and a copy number of 45 copies for ERBB2 were calculated based on the estimated tumor purity of 30%. These results suggested an ERBB2-driven tumor and a potential benefit from therapies targeting ERBB2, such as trastuzumab.\nThe patient started trastuzumab treatment in February 2017. Trastuzumab was first administered once as monotherapy without concurrent chemotherapy due to the patient's obstructive pneumonia. After the patient's pneumonia improved, the patient received three more doses of trastuzumab with concurrent docetaxel treatment. CT imaging in June 2017 demonstrated a necrotic regression of the right upper lobe lung lesion after the initiation of trastuzumab treatment (Figure 3). The restaging in July 2017 confirmed the absence of local recurrence. However, the patient had developed brain metastasis. There was no evidence for other systemic metastasis. Since trastuzumab and docetaxel do not effectively pass through the blood-brain barrier, whole brain radiotherapy (WBRT; 3000 cGy/15FX) was initiated in addition to the continuation of trastuzumab and docetaxel. In October 2017, a follow-up was performed. At that time, the patient's ECOG performance status was 0. CT imaging of the lung showed no evidence of local progression or distant metastasis. However, the patient's blood was used for the ACTMonitor Lung 11 gene NGS circulating tumor DNA (ctDNA) test. This test covers hotspots in the genes ALK, BRAF, CDKN2A, CTNNB1, EGFR, ERBB2, KRAS, MET, PIK3CA, TP53, and U2AF1. The results showed the TP53 Y220C mutation that had previously been detected in the FFPE tumor specimen and an additional TP53 R248W mutation at allelic frequencies of 4.4% and 1.1%, respectively. The detection of tumor-specific variants in plasma upon therapy is associated with less favorable treatment outcomes, and our results indicated the possibility of a future disease progression. The patient was treated with combined bevacizumab and trastuzumab therapy, and the treatment was given three times until January 2018. At that time, CT imaging of the brain indicated a newly progressive brain metastasis. A bronchoscopic exam and serial staging studies did not indicate local tumor recurrence or other metastasis, and the obtained specimen from a bronchoscopic biopsy showed chronic inflammation but no presence of cancer cells. The patient was treated with RT for the brain metastases and atezolizumab in early February 2018. However, he developed pneumonia, followed by septic shock, and died in mid-February.",
"gender": "Male"
}
] |
PMC7071810
|
[
{
"age": 54,
"case_id": "PMC9421220_01",
"case_text": "A 54-year-old man presented with a history of long-standing persistent atrial fibrillation (PersAF) and has been treated with Beta-blocker and Apixaban for the last 8 years. He also had a history of failed DC cardioversion 2 times since 2018. Preoperative echocardiography demonstrated 5.8 cm dilated LA, no intracardiac thrombus and good left ventricular function (Ejection fraction 50%). Based on the multi-disciplinary team (MDT) decision, the patient has undergone convergent subxiphoid epicardial ablation on the beating heart without cardiopulmonary bypass and AtriClip exclusion of LA appendage plus a single 200 kJ direct current (DC) cardioversion. The MDT rationale for the hybrid programme was that the LA size (5.8 cm) and endocardial ablation outcome in long-standing PersAF with this LA size were poor. The patient's informed written consent was obtained; patient confidentiality and data were protected and encrypted.\nUnder general anaesthesia, a 2 cm midline subxiphoid incision was made, the xyphoid was preserved and raised to allow entry into the pericardium. A 5 mm pericardioscope was utilised to investigate the pericardium cavity outwardly. The coronary sinus and inferior pulmonary veins were identified, and sequential superior and inferior transmural ablation was performed across the back left atrium. A total of 32 points of ablation were performed utilising the 3 cm ablation catheter and 30 W RF energy for 90 seconds at each point. Moreover, the baseline temperature (36 C) was monitored with an oesophagal probe throughout the procedure. If the temperature increased by 1 C more than baseline, ablation was stopped to allow deaeration and waited until temperatures returned to baseline. Each area had multiple ablations until macroscopically the area was discoloured.\nFollowing pulmonary vein (PV) isolation, 3 left VATS ports (5 mm port in the second intercostal space (ICS), 5 mm port in the mid-axillary line at fourth ICS, and 12 mm port in the sixth ICS in the posterior axillary) line were performed. A double lumen endotracheal tube was placed prior to the beginning of the case. The left lung was deflated, and the pericardium was opened parallel and below the phrenic nerve. The LA appendage was envisioned and measured, and a 35 mm pro-2 Atriclip device were deployed through the lower 12 mm port around the base of the LA appendage. The patient was in sinus rhythm towards the finish of the hybrid procedure after having a single DC cardioversion shock at 200 kJ. The post-procedural period was uneventful, and the patient was discharged on the first postoperative day with satisfactory biochemical, chest X-ray and echocardiography findings (Figure 1). Postprocedural medication includes Edoxaban, oral Lansoprazole and the patient was advised to come for follow-up in the Electrophysiology clinic after 3 months. The anticoagulant Edoxaban was prescribed as per the Electrophysiology Consultant Cardiologist opinion and on an individual basis dependent upon CHA2DS2VASC score. Though the patient was on a beta-blocker preoperatively, we did not need to restart his beta-blocker postoperatively as the patient was in sinus rhythm and heart rate was 68 beats per minute (regular) till following up at 6 months. Follow-up echocardiography at 6 months was also satisfactory with good biventricular function, and we endeavour to evaluate the patient with a formal Holter monitoring at 1 year postoperatively.",
"gender": "Male"
}
] |
PMC9421220
|
[
{
"age": 54,
"case_id": "PMC6364124_01",
"case_text": "A 54-year-old male with a history of renal cell carcinoma, pancreatic adenocarcinoma stage II (T2 N1 3/5 lymph nodes positive), having previously received chemotherapy followed by stereotactic body radiation therapy (SBRT) presented 5 months after the Whipple's surgery with failure to thrive, fatigue, and nausea. Exam was unremarkable and laboratory investigations revealed albumin of 1.3 mg /dl, bilirubin of 2.8 mg/dl, mainly conjugated, serum alkaline phosphatase of 825 U/L, and CA 19-9 of 81.4 (normal <37 U/ml). Computed tomography scan (CT) of abdomen showed a perigastric abscess adjacent to the fundus (Figure 1). Endoscopic ultrasound (EUS) was suggestive of 35 mm anechoic, heterogeneous, well-circumscribed fluid collection in the immediate perigastric area surrounding the fundus (Figure 2). Under endosonographic, fluoroscopic, and Doppler guidance, a 10 x 10 mm LAMS was placed from the stomach into the fluid collection with drainage of pus.\nThe patient improved clinically along with significant improvement in his bilirubin and alkaline phosphatase after the procedure. Repeat CT abdomen after one week of stent placement showed a near-complete resolution of the abscess (Figure 3), although he had developed ascites by this time, likely due to presence of severe hypoalbuminemia. Removal of the stent was planned after 3 weeks of placement. However, the patient was readmitted 3 weeks later with respiratory failure and altered mental status. His family elected to provide supportive care only and he died shortly thereafter.",
"gender": "Male"
},
{
"age": 54,
"case_id": "PMC6364124_02",
"case_text": "54-year-old male underwent distal pancreatectomy with splenectomy for treatment of pancreatic neuroendocrine tumor. In the immediate postoperative period, patient developed a pancreatic fluid leak from the tail of pancreas and an intra-abdominal drain was placed that was removed after it stopped draining. CT scan showed interval increase in the size of the rim enhancing fluid collection around tail of pancreas 1 month after drain removal (Figure 4). ERCP was performed for suspected pancreatic duct (PD) leak and confirmed a leak from the tail of the pancreas. Endoscopic pancreatic sphincterotomy was done with placement of a 5 Fr x 13 cm pancreatic duct stent with internal barbs. Subsequently, EUS showed a well demarcated, hypoechoic, heterogeneous collection, adjacent to the tail of the pancreas about 6.5 cm in the largest dimension (Figure 5). Under endosonographic guidance, a 15 mm x 10 mm LAMS was placed from the stomach into the fluid collection with drainage of a large amount of pus. CT scan of abdomen after 1 month showed decrease in the size of the previously demonstrated LUQ rim-enhancing fluid collection (Figure 6). Unfortunately, patient later had a neurological event that led to his demise, prior to stent removal.",
"gender": "Male"
},
{
"age": 34,
"case_id": "PMC6364124_03",
"case_text": "A 34-year-old male presented to hospital after a motor vehicle accident. Patient was hypotensive on arrival and underwent exploratory laparotomy, splenectomy, embolization of hepatic vessels, and right-sided partial hepatectomy due to grade V liver laceration. Postoperatively, the patient developed bilious drainage from an intra-abdominal drain and underwent ERCP for suspected bile leak. ERCP revealed a leak from the right biliary system; therefore a 10 Fr x 5 cm plastic biliary stent was placed. A week later, the patient continued to have high output of amylase-rich fluid from a separate intra-abdominal drain which was suspicious for a pancreatic duct leak. Repeat ERCP with pancreatogram revealed a leak from the pancreatic tail for which a 5 Fr x 13 cm pancreatic duct stent was placed and the biliary stent was upsized to a 10 mm x 4 cm covered self-expanding metallic stent (SEMS) due to a persistent biliary leak.\nAfter 1 month, the patient became septic and was found to have a peri-pancreatic abscess on CT abdomen. IR performed a percutaneous drainage of the peripancreatic abscess with minimal drainage through the drain, without any clinical improvement. EUS was then performed by one of the authors (JN) that revealed a 55 mm, oval, heterogeneous peri-pancreatic fluid collection which had hyperechoic material consistent with the solid debris. A 10mm x 10mm LAMS was then placed from the stomach into the fluid collection with subsequent drainage of pus and debris. The patient clinically improved and was discharged home with improvement of the fluid collection. A follow-up CT Abdomen 4 weeks later showed interval decrease in the size of the previous small fluid collection. The LAMS was uneventfully removed endoscopically at 8 weeks after the initial placement.",
"gender": "Male"
}
] |
PMC6364124
|
[
{
"age": 71,
"case_id": "PMC6381921_01",
"case_text": "A 71-year-old female smoker presented with stage IV lung adenocarcinoma harboring the EGFR exon 21 L858R mutation. She had no history of drug allergies or autoimmune disease. She was started on erlotinib at 150 mg/day for the treatment. Although she had been taking medications over many years, including calcium-channel blocker for hypertension and statin for hyperlipidemia, erlotinib was her only new medication. Then, by 28 days after the start of erlotinib therapy, she presented with severe pruritus of grade 3 according to the National Cancer Institute's Common Toxicity Criteria. The pruritus was resistant to local application of steroid ointment and to standard systemic therapies, including oral steroids and antihistamines. Furthermore, the pruritus was also linked to acneiform skin rush, leading to the interruption of erlotinib therapy for a period of 2 weeks.\nAfter recovering from these skin side-effects, she was restarted on erlotinib at a reduced dose of 100 mg/day. Oral steroids and antihistamines were continued to prevent recurrence of the pruritus and skin rush. However, within 2 weeks after restarting erlotinib, severe pruritus of grade 3 developed again, followed by acneiform skin rush especially on her face (Fig. 1). An evaluation of the pruritus by means of a visual analogue scale (VAS), in which a score of 0 indicates no pruritus and a score of 10 indicates the worst pruritus imaginable, resulted in a score of 8. Therefore, erlotinib was again discontinued, and she was started on aprepitant at 125 mg on day 1 after discontinuation, 80 mg on day 3, and 80 mg on day 5 with the aim of treating the pruritus and skin rush. This treatment schedule for aprepitant administration was decided after studying the various treatment schedules on the basis of the scientific reports of aprepitant administration. Then, the prompt improvement was observed within 5 days after starting the first dose of aprepitant, leading to a score of 2 for the pruritus on the VAS (Fig. 2).\nAfter this recovery, she was restarted on erlotinib at 100 mg/day. However, the pruritus and skin rush gradually exacerbated thereafter, leading to scores of 4 and 8 for the pruritus on the VAS within 2 and 4 weeks, respectively (Fig. 3). Then, by starting the second dose of aprepitant, the prompt improvement was again observed within 5 days, leading to a score of 2 for the pruritus on the VAS. However, the pruritus and skin rush eventually exacerbated within 4 weeks. At this point, bi-weekly schedule for aprepitant administration (125 mg on day 1, 80 mg on day 3, and 80 mg on day 5, every 2 weeks) was considered and, then, adopted. As the results, throughout the subsequent treatment with erlotinib, the pruritus and skin rush remained well-controlled within the scores of 2 and 4 for the pruritus on the VAS (Fig. 4).",
"gender": "Female"
}
] |
PMC6381921
|
[
{
"age": 65,
"case_id": "PMC9629861_01",
"case_text": "We present the case of a 65-year-old Caucasian male, without any significant medical history, admitted to our clinic with bilateral lower limb motor deficit and distal paresthesia in all limbs, with an onset of ~3 weeks prior. The patient also complained of sudden bilateral decreased visual acuity, more severe on the right side, which preceded the motor deficit by approximately 10 days and had a spontaneously favorable evolution and was partially remitted by the time of admission.\nAn ophthalmologist in another service evaluated the patient approximately 7 days from the onset of the visual symptoms, where he tested positive for SARS-CoV-2. At that moment, he had had mild respiratory symptoms (slight cough and rhinorrhea) for a~2 days. The interval between the onset of the neurological and COVID-19 symptoms was ~5 days.\nThe ophthalmological examination noted VOS Presbyopia 0.5 sc (0.7 c), VOD PHM, with a regular fundus examination in both eyes. At that time, sight in the left eye was already spontaneously improving, and the diagnosis was right retrobulbar optic neuritis. He was not started on any therapy and received a recommendation for a neurological evaluation and a brain MRI scan. The patient chose to isolate himself at home for 14 days, per the local recommendations at the time.\nApproximately 3 days into the isolation period, he developed lower limb paresthesia, followed by paraparesis and ataxia, which progressively worsened until he could no longer walk.\nOur initial clinical examination showed a slight loss of visual acuity in the right eye (he could read a newspaper), asymmetric paraparesis (3/5 MRC on the right, 4/5 MRC on the left), bilateral Babinski sign, distal paresthesia in all limbs, severe bilateral lower limb myoarthrokinetic and vibratory hypoesthesia, with important secondary ataxia, and a T10 sensory level on the left side; walking was impossible.\nThe full spine MRI revealed a non-enhancing, T2 and STIR hyperintense cervical demyelinating lesion extending from C4 to C7 levels (Figures 1A,B), cervical spondylotic changes, and degenerative lumbar stenosis at L4-L5 levels. The cerebral MRI was unremarkable except for a slight STIR hyperintense signal affecting the right ON, extending posteriorly into the optic chiasm (Figure 2).\nThe patient was evaluated extensively for autoimmune disorders associated with myelitis, testing negative for ANA, c-ANCA, p-ANCA, anti-Ro, anti-La, and anti-neuronal antibodies. The infectious screening was negative except for the incidental presence of IgG against HCV. Testing for HIV, syphilis, and borreliosis was negative. The B12 serum level was normal. Serum anti-AQP4 antibodies and anti-MOG antibodies were both positive. The AQP4 was tested by indirect immunofluorescence with a titer of 1:1,000 (N < 1:10). The MOG testing was Western Blot.\nThe CSF had elevated protein levels (albumin 0.44 g%, positive Pandy test) without pleocytosis (6 elements/muL) and no oligoclonal bands. The IgG index was normal (0.63).\nGiven the patient's history of optic neuritis, longitudinal extensive cervical myelitis, positive tests for anti-AQP4 and anti-MOG antibodies, and the exclusion of other possible causes that could have caused central nervous system demyelination, a diagnosis of neuromyelitis optica was reached.\nThe patient had been treated with iv Methylprednisolone 1,000 mg daily for 5 days with significant improvement of motor function (4-/5 MRC bilaterally) and partial remission of the paresthesia but with the persistence of the objective sensory deficits. The patient was able to walk using a Zimmer frame. He was discharged with oral prednisone at 1 mg/kg/day.\nAt the 2-month checkup, the patient had continued to improve, presenting with normal visual acuity, asymmetric paraparesis (4-/5 MRC on the right, 4+/5 MRC on the left), bilateral lower limb paresthesia up to the lower half of the thighs, and crural proprioceptive hypoesthesia, still requiring a frame for walking. The cervical MRI showed a slightly favorable evolution of the cervical lesion (Figures 1C,D). As a corticoid-sparing treatment, he was started on Azathioprine (AZA), gradually reaching a dose of 150 mg per day.\nHe was seen again at the 1-year mark, being stationary from a neurological point of view, with the persistence of the asymmetric paraparesis and sensory anomalies. The cervical MRI examination was discreetly improved, as the intramedullary pathological signal had continued to decrease in area and intensity (Figure 1F). AZA was continued in the same doses while prednisone tapering was initiated.",
"gender": "Male"
}
] |
PMC9629861
|
[
{
"age": 63,
"case_id": "PMC2958542_01",
"case_text": "A 63-year-old, HIV-negative woman was referred in June 2000 by a general practitioner to the outpatient pulmonary service because she had exhibited a fever and night sweats for 3 months. The patient's medical history included a mild hypertensive cardiovascular disease and a pulmonary tuberculosis episode when she was 16 years old. Her father and brother had pulmonary tuberculosis. She lived in an urban area and had no history of acoholism, smoking, or use of steroids or immunosuppressive drugs. No other pulmonary diseases that could potentially lead to bronchiectasis and further mycobacterial colonization were reported. Physical examination revealed no pathologic findings except a strong positive reaction (24 mm of induration) with tuberculin skin test (5 U of purified protein derivative-standard [PPD-S]). Results of clinical laboratory tests were unremarkable, apart from an elevated erythrocyte sedimentation rate (77 mm/h). A computed tomographic (CT) scan of the chest showed multifocal bronchiectases in the middle right lobe, multiple small nodules in the lower right lobe, and a cavitary lesion in the upper right lobe, which appeared to have thin walls and was surrounded by a scant or absent inflammatory reaction. Bronchoscopy showed no inflammatory mucosal changes on the right side. Smears of bronchial washings were negative for acid-fast bacilli (AFB), and smears of two sputum specimens were positive, while all specimens gave negative results when tested by a ligase chain reaction commercial assay specific for MTB. A reactivation of tuberculosis was assumed, and chemotherapy with isoniazid, rifampin, and ethambutol was begun. Cultures of bronchial washing and sputum specimens produced a slow-growing Mycobacterium, which was identified as M. celatum in July 2000. The isolate was not considered clinically important, and chemotherapy was unchanged.\nIn December 2000, although the general condition of the patient had slightly improved after 6 months of treatment, a control CT scan showed a worsening (enlargement) of the nodular lesions. Smears of two sputum specimens and one bronchial washing specimen were positive for AFB, whereas all specimens were negative when tested by the MTB ligase chain reaction assay. All of these specimens yielded M. celatum. On the basis of susceptibility data obtained from the first M. celatum isolate, chemotherapy was changed to a schedule that included isoniazid, ethambutol, and clarithromycin, which lasted until November 2001. This regimen proved to be well tolerated by the patient. The bacteriologic results (specimens from two additional bronchial washings were negative for AFB by smear and culture) and clinical response were good. In December 2001, chest x-ray examinations and a CT scan showed a considerable reduction of nodular lesions as well as improvement of lung cavitation (Figure). The patient was considered cured after taking medication for approximately 18 months.\nClinical, microbiologic, and radiologic data as well, as information on response to treatment and follow-up, were obtained from the patient's records. All material was carefully reviewed to evaluate the clinical significance of the findings according to the criteria proposed by the American Thoracic Society.\nWe examined sputum and bronchoaspirate specimens for acid-fast organisms. They were stained with routine Ziehl-Neelsen stain and cultured by standard procedures by using a combination of radiometric Bactec system (Becton Dickinson Biosciences, Sparks, MD) and Lowenstein-Jensen medium. Amplification for MTB was performed by the LCx-MTB assay (Abbott, Diagnostics Division, Chicago, IL). Conventional identification and growth tests were performed according to standard methods. We tested recovered strains with the Accuprobe system using specific probes for MAC and MTB. Assays were run from liquid culture setting the unbound probe hydrolysis incubation time at 5 and 10 min and temperature at 60 +- 1 C. The amount of chemiluminescence emitted was estimated with a Leader 50 luminometer (Gen-Probe Inc., San Diego, CA, USA) and quantified as relative light units (RLUs). Definitive identification was achieved by mycolic acids high-performance liquid chromatography (HPLC) analysis. Drug susceptibility pattern was determined in 12B liquid medium (Becton Dickinson Biosciences) by using the radiometric macrodilution method developed for MAC.\nSix isolates were recovered in a 6-month period. M. celatum was isolated from different specimens: two isolates were from bronchial washing and four from sputum. Acid-fast smears were positive in five of the six specimens. Cultures on Lowenstein-Jensen medium yielded multiple colonies, ranging from 100-150 CFU to a confluent growth. No additional microorganisms were isolated during the admission and follow-up period. Amplification tests performed on all respiratory specimens were repeatedly negative for MTB on smear samples positive and negative for M. celatum. M. celatum strains were isolated on both currently used media, radiometric liquid medium (Bactec 12B) and conventional Lowenstein-Jensen solid medium. We used an extended panel of biochemical and cultural tests for conventional identification. On the basis of these test results, the most likely identification, estimated by a program for the computerized identification of mycobacteria, appeared to be M. avium-intracellulare (Table). All strains isolated from this patient produced a weak yellow pigment in the dark, which grew at 45 C and were negative for arylsulfatase activity when tested after 3 days by the method of Kubica and Rigdon. The Bactec NAP test (Becton Dickinson Biosciences) did not demonstrate, as expected, any inhibition by para-nitro-alpha-acetilamino-beta-hydroxypropiophenone (NAP). The hybridization test performed with Accuprobe specific for MAC gave negative results. Weak positive or slightly below the cutoff (30,000 RLUs) results were observed with Accuprobe MTB (mean RLU value 51,170; range 28,219-111,365). When selection reagent (unbound probe hydrolysis) incubation time was set at 10 min, M. celatum strains clearly showed negative results (range 5,721-9,574; mean RLU value 7,210). A reference strain (M. tuberculosis ATCC 25177), run in the hybridization assay as a positive control, gave RLUs of 580,321, about 20 times the cut-off value. Finally, the strains were sent to the Mycobacteria Reference Centre in Florence, Italy (Dr. E. Tortoli), and studied by HPLC analysis of mycolic acids. They showed the same profile that allowed all of our strains to be attributed to M. celatum.\nMICs (mug/mL) determined for the first isolate were the following: streptomycin, 2.0; isoniazid, 0.5; rifampin, >64.0; ethambutol, 2.5; ciprofloxacin, 1.0; ofloxacin, 1.0; clarithromycin, 1.0; ethionamide, 2.5; and rifabutin, 0.5. Drug susceptibility testing was completed after 6 days.\nWe searched the English-language literature from 1993 to 2001 for all previously reported cases of pulmonary infections with M. celatum in immunocompetent patients. The search yielded two published reports. Descriptions of the clinical signs, radiologic findings, and treatment were not always available, however.\nClinical and radiographic features of M. celatum pulmonary infection resemble those of tuberculosis and other nontuberculous mycobacterial infections. Cough and weight loss are the main symptoms, while pulmonary infiltrates and extensive cavitations have been described in all published reports. Patients did not suffer from any underlying diseases when pulmonary infection with M. celatum was diagnosed and had a strongly positive tuberculin skin test, suggesting immunocompetence. Published data and our findings indicate that M. celatum caused pulmonary disease, and not merely colonization, in the affected patients. Indeed, all of these cases met the American Thoracic Society criteria for the diagnosis of nontuberculous mycobacterial disease. The patients displayed radiographic evidence of pulmonary disease that could not be attributed to other causes and that was associated in two of three cases with the repeated isolation of the same mycobacterial strain. By contrast, clinical presentation in immunocompromised patients differs greatly, being characterized by interstitial pulmonary infiltrates or by clinical and micobiologic evidence of disseminated disease.\nM. celatum strains were isolated on currently used liquid media in all reported cases (radiometric Bactec 12B and MB/BacT [Organon Teknika B.V., Boxtel, the Netherlands]), while samples from one of the published case-patients did not grow on conventional Lowenstein-Jensen solid medium, and growth has not been reported for samples from the second case-patient. Data from an extended panel of biochemical and cultural tests for conventional identification have not been reported; however, the appearance of a scotochromogenic pale yellow pigment with growth at 45 C and a negative 3-day arylsulfatase test are in full agreement with our present and previous findings. All strains showed a partial hybridization with Accuprobe MTB, which disappeared after 10 min of incubation with selection reagent. From a practical standpoint, setting the selection time at 10 min is advisable when the Accuprobe identification is performed on a mycobacterial culture grown in a liquid medium. In this situation, the characteristics of mycobacterial colonies cannot be observed and false-positive reactions may lead to misidentification. However, if the Accuprobe assay is carried out on a mycobacterial culture grown on a solid medium, a 5-min selection time is recommended. In this case, the appearance of mycobacterial colonies and their characteristics of growth may help to evaluate Accuprobe results. Thus, a weak positive reaction when testing nontuberculous mycobacteria with the M. tuberculosis complex Accuprobe strongly suggests that the organism is likely to be M. celatum.\nIn one case, a misleading positive reaction occurred when a clinical sample containing M. celatum was tested for MTB by the Amplified M. tuberculosis direct test (AMTD, Gen-Probe, Inc.). The test amplifies 16S rRNA of Mycobacterium species by transcription-mediated amplification. The resulting amplicons are then detected by a hybridization protection assay by using a probe that targets the same genomic region as the probe of the Accuprobe kit. In our case, when we tested clinical samples by a different amplification system, no false-positive results potentially leading to a delay of appropriate treatment were reported. Patients (including our case-patient) were given different treatment regimens, with three or four antibiotics, mainly ethambutol, rifabutin, clarithromycin, and ciprofloxacin. Clinical improvement, as defined by resolution of symptoms and improved radiographic findings (infiltrates and cavitary lesions), was obtained within 6 months after initiation of therapy in two of three patients. One patient who received antimycobacterial therapy died 10 weeks after admission from complications apparently related to the M. celatum infection. Data from necropsy were not reported. Both cured patients showed a marked improvement when clarithromycin was added the chemotherapy regimen; the patient who later died felt better for 3 weeks when his chemotherapy was changed to a new schedule that included clarithromycin. Despite evidence of clinical and radiologic improvement, one patient was still sputum-positive 1 year after the initiation of therapy. In-vitro susceptibility data (when available) seemed to correlate with patients' clinical improvement as the MICs of tested drugs were below the serum concentrations achievable during therapy.\nOur findings show that M. celatum is an infrequent cause of potentially treatable pulmonary disease in immunocompetent subjects. Clinical picture and repeated isolation from respiratory specimens enabled us to consider M. celatum strains as clinically relevant in all the patients reported. Treatment with a three- or four-drug combination, including clarithromycin and ethambutol, should result in considerable reduction in the illness associated with this disease. Although at present only 16S rDNA sequencing or mycolic acid HPLC analysis can confirm M. celatum identification, the most practical way to get a preliminary identification relies on a positive DNA hybridization signal for MTB at 5 min but negative hybridization at 10 min with the Accuprobe test. Finally, although no major immunologic disorder could be detected in these patients, the host's defense failure associated with M. celatum infection suggests a possible \"hidden immunodeficiency\" rather than a true immunocompetence. Recent data on the immunology of nontuberculous mycobacterial infections seem to support this hypothesis.",
"gender": "Female"
}
] |
PMC2958542
|
[
{
"age": 54,
"case_id": "PMC8626178_01",
"case_text": "A 54-year-old man presented with progressive shortness of breath, cough, and recurrent pneumonia. Chest examination was notable for reduced bilateral lung excursion, coarse breath sounds diffusely, and paradoxical breathing in the supine position. Pulmonary function testing suggested severe restriction with FVC of 27% predicted, FEV 1 28% predicted, normal FEV1/FVC ratio, and respiratory muscle strength < 10% predicted.\nComputed tomography (CT) of the chest revealed basilar bronchiectasis and bilateral diaphragmatic elevation with associated atelectasis. Dynamic CT showed anterior displacement of the posterior tracheal wall at the distal trachea, bilateral main stem bronchi, and bronchus intermedius. Electromyogram demonstrated bilateral phrenic neuropathy and left brachial plexus neuropathy. Ultrasound confirmed the absence of diaphragm movement bilaterally. He had progressive clinical decline requiring near constant noninvasive positive pressure ventilation (NPPV). Dynamic bronchoscopy showed severe expiratory central airway collapse (ECAC) with >90% collapse of the trachea, main stem bronchi, and bronchus intermedius (Figure 1(a)). A stent trial (Figure 1(b)) was performed with placement of three uncovered self-expandable metallic stents in the left mainstem bronchus, distal and mid trachea and right mainstem bronchus and bronchus intermedius. This resulted in measurable improvements in the quality of life by validated questionnaires at two weeks and the stents were removed. He was recommended to undergo combined tracheobronchoplasty and right diaphragmatic plication.\nThe initial surgery was aborted due to the inability to maintain adequate oxygenation during single lung ventilation. One week later, the procedure was successfully completed through right thoracotomy under venous-venous extra-corporeal membrane oxygenation (VV ECMO) support. Central airway stabilization was achieved by suturing a knitted polypropylene mesh to the posterior membrane of the trachea and bilateral main bronchi. Due to persistent ventilator dependency, left diaphragm plication through a left thoracotomy was performed 5 days postoperatively. He was discharged home on postoperative day #23.\nAt follow-up evaluation, he no longer required NPPV and regained independence in activities of daily living. Pulmonary function testing showed improvement with FVC of 53% predicted, FEV1 42% predicted, and respiratory muscle strength 13% predicted. CT of the chest demonstrated improved lung volumes (Figure 2). Dynamic bronchoscopy showed improvement in the degree of ECAC (Figure 1(c)).",
"gender": "Male"
}
] |
PMC8626178
|
[
{
"age": 81,
"case_id": "PMC6008880_01",
"case_text": "An 81-year-old man presented with abdominal discomfort and distention. His medical history was remarkable for hypertension and type 2 diabetes mellitus. He and his family denied alcohol abuse. Physical examination revealed hepatomegaly without jaundice, ascites, or hepatic encephalopathy. Laboratory data included platelet count 101,000/mm3, total bilirubin 0.9 mg/dl, AST 33 IU/L, ALT IU/L, and PT-INR 1.15. The serum AFP and PIVKA-II levels were 1081.0 ng/ml and 43 mAU/ml. Serologic tests for hepatitis B and C virus were negative. The diagnosis of nonalcoholic steatohepatitis with Child-Pugh A liver cirrhosis was made and four HCC lesions were found in segments II, VI, and VIII on the imaging. The largest one was located near the liver capsule in segment II measuring 6.5 cm in diameter. The other three lesions were less than 2 cm with one in segment VI and two in segment VIII. Segmental TACE with epirubicin and iodized oil was performed and he was discharged uneventfully.\nHe was doing well until he developed abdominal pain 15 days after TACE which was gradually getting worse emergency transport to the hospital. His temperature was 37.7 C, blood pressure 102/41 mmHg, and pulse rate 79/minute. On physical examination, the abdomen was distended and hard to palpation without rebound tenderness. His hemoglobin was 12.6 g/dl. A contrast enhanced computed tomography (CT) scan of the abdomen showed iodized oil and intraperitoneal free air with a rupture of the HCC in segment II into the peritoneal cavity adjacent to the gastric wall (Figure 1). Extravasation of contrast medium was not seen. Emergent upper gastrointestinal endoscopy confirmed no gastric mucosal lesions or a site of perforation. Without evidence of septic shock or hemorrhage, surgical drainage and transcatheter arterial embolization (TAE) are considered less effective. He was treated nonoperatively with piperacillin and tazobactam. Although an abdominal abscess formed, he was discharged on hospital day 18 with continued antimicrobial therapy.\nFive weeks after undergoing TACE, he was readmitted with hematochezia and hemorrhagic shock. The hemoglobin level was dropped to 6.6 g/dl. A contrast enhanced CT scan demonstrated gastric extraluminal compression by an HCC lesion with extravasation of contrast medium into the stomach (Figure 2). Emergent upper gastrointestinal endoscopy showed a submucosal tumor with central ulceration located on the anterior wall of the gastric body, corresponding to extraluminal compression by a HCC (Figure 3). The hemorrhage from the ulcer was successfully controlled by hypertonic saline-epinephrine injection. Another submucosal tumor was found in the gastric fundus without ulcer formation (Figure 4). The patient's condition stabilized and he was discharged for palliative care and died six weeks after undergoing TACE.",
"gender": "Male"
}
] |
PMC6008880
|
[
{
"age": 40,
"case_id": "PMC5070353_01",
"case_text": "A 40-year-old Tunisian female, without any past history of dysimmune disorder or arthralgia, developed progressive unsteadiness of gait worsening over 4 years. She had no familial history of gait disturbance. She complains also about tremor of limbs and head appearing since 1 year. On initial neurological examination, she was unable to walk, with a severe cerebellar syndrome including dysarthria and ataxia of four limbs and trunk. Motor power and sensory examinations were normal. Her deep-tendon reflexes were normoactive, and her plantar responses were flexor bilaterally. Bilateral rest and intention tremor of the four limbs and head was also noticed. She had no nystagmus, no bladder dysfunction, no parkinsonism and no cognitive impairment. General examination was otherwise normal. During her hospitalization, she complained about dry eyes and mouth.\nComplete blood count, serum electrolytes, creatinine, glucose, coagulation tests, liver functional tests, lacticodeshydrogenase, blood sedimentation rate, lipids, and creatine kinase were normal.\nBrain magnetic resonance imaging (MRI) showed bilateral hyperintensities on T2 and FLAIR sequences, affecting periventricular white matter, predominantly in the subcortical white matter. No gadolinium enhancement was found (Fig. 1). Marked cerebellar atrophy without signal abnormalities was notified (Fig. 2). Spinal MRI was normal. Visual evoked potential and electromyography were both normal. Toxic causes of cerebellar ataxia were ruled out by the interrogatory. \nThe cerebrospinal fluid contained 01 cell/ mm3 and 70 mg/dl of protein, and the glucose level was not decreased. There was no oligoclonal bands. Laboratory tests were positive for anti-Ro-SSA antibodies. Anti-nuclear antibodies were slightly positive (1/100) and speckled on immunofluorescence, DNA antibodies were negative. Assays for ss-B (anti-La), anti-phospholipids (cardiolipin and beta2 glycoprotein), anti-nuclear ribonucleoprotein (RNP), anti-Smith (Sm), anti-histone, anti PM-Scl, anti-PCNA, anti-Scl70, anti-centromere, anti-Jo1, anti-ribosomal and anti-nucleosome antibodies were all negative. Rheumatoid factor was also negative. HIV and hepatitis tests were negative. Paraneoplasic antibodies (anti-Hu, anti-Ri, anti-Yo, anti-PNMa2 and anti-CRMP5), anti-GAD, anti-gliadin, anti-transglutaminase, anti-thyroglobulin and anti-thyroid peroxidase antibodies were not detected. Anti-VGCC antibodies were not tested. The break up time test confirms the xerophtalmia. Salivary glands biopsy was not performed because of the important head tremor. The diagnosis of pSS with neurological complications was retained according to the 2002 American European classification criteria.\nGenetic tests for Friedreich ataxia and ataxia with vitamin E deficiency were negative.\nThe patient was treated by intravenous methylprednisolone (1 g/day), administered for 5 days followed by maintenance therapy with oral methylprednisolone (1 mg/kg/day) continued for 3 months, and then progressively decreased. She received Cyclophosphamid once per month for 6 months. Normocardil (60 mg/day) and Meprobamate (600 mg/day) were also administered for tremor. There was no significant clinical improvement, but her state did not worsened after 2 years of follow up. A second brain MRI, made 3 months after she received sixth dose of Cyclophosphamid, showed the same stable lesions.",
"gender": "Female"
}
] |
PMC5070353
|
[
{
"age": 31,
"case_id": "PMC4068338_01",
"case_text": "This male patient was initially referred to the genetics clinic at 10 years of age for short stature, first noticed at the age of 2 years, and a rib cage deformity. He was born to a 31-year-old mother and a 45-year-old father. The parents denied consanguinity and there was no family history of skeletal dysplasia on either side. The patient had normal weight and length at birth; he met all developmental milestones appropriately and psychomotor development was normal. At the age of 10 years, the pertinent findings noted on physical examination included a height of 117.6 cm (-3.5SD) and an upper to lower segment ratio of 1.12 (+2SD). The chest examination was significant for a marked symmetrical deformity of the anterior thorax with normal sternum, \"hollowing\" of the ribs in the mid-parasternal region, and flaring of the lower costal margins. He was not dysmorphic and neurologic examination was normal. Color blindness and nystagmus with amblyopia were noted on ophthalmologic examination at the age of 10 years and endocrinology investigation was normal. A brain magnetic resonance imaging (MRI) scan, performed for headaches, was normal. The patient was seen again in the skeletal dysplasia clinic at the age of 14 years. At this visit, his height was 144 cm (-3SD), psychomotor and sexual development were normal, and no dysmorphic facial features were noted. On physical examination, scoliosis of the thoracic spine and rhizomesomelic shortening of the extremities were noted, with full range of motion in all joints. The chest deformity was unchanged. A follow up examination at the age of 16 years revealed that his height remained the same since the age of 14 years and no new physical findings were noted (Fig. 1). He continues to perform well in regular classes and reported gastrointestinal bleeding and microcytic anemia, leading to a diagnosis of ulcerative colitis.",
"gender": "Male"
}
] |
PMC4068338
|
[
{
"age": 17,
"case_id": "PMC9649972_01",
"case_text": "A 17-year-old boy was admitted to the eye hospital in September 2007 due to sequential visual acuity (VA) loss, first on the right eye (RE) and 3 weeks later on the left eye (LE). Interestingly, the VA loss on the RE was accompanied by painful eye movements (timeline of the disease is presented in Table 1). In the spring of the same year, he reported an episode of vomiting and dizziness, with vertigo and weight loss. At that time, head computerized tomography (CT) was normal, so he was prescribed antidepressant drugs. Upon admission, VA on the right eye was counting fingers at 3 m, and 0.6 (Snellen) on the LE. Color vision on the RE was poor (1/15) although it was still relatively preserved on his LE 13/15 (Ishihara). Fundoscopy revealed hyperemic optic disks (papilla nervi optici/PNO) without vessel tortuosity and intraretinal hemorrhage at RE superior arcade (Figure 1a). The patient had no early leakage, but some staining of the PNO in the late phases of fluorescein angiography (Supplementary Figure 1A). There was central scotoma in his visual field which increased, with visual acuity decrease and delayed and decreased VEP P100 wave. Pattern ERG N95 wave at that time was still in the normal range, although of lower amplitudes in the worse eye (Figure 1a). The patient was treated with intravenous corticosteroid therapy Solumedrol i.v. (1g/day) for 3 days. Over the next 7 days, his LE visual acuity dropped to 0.3 and was followed by continuous visual function degradation for the next 2.5 months, when it reached the nadir of RLE 0.03 with color vision decreasing to 0/15 and 1/15. 7 years after the onset, visual function started improving with the appearance of the small fenestrations in the central scotoma of both eyes and the patient reached stable 0.1 Snellen bilaterally 14 years after the onset (Figures 1b, 2 and Supplementary Figure 2).",
"gender": "Male"
},
{
"age": 18,
"case_id": "PMC9649972_02",
"case_text": "An 18-year-old boy was admitted to our hospital in September 2009 due to bilateral painless visual acuity loss which lasted for 3 weeks (timeline of the disease is presented in Table 2). Upon admission, his RE VA was 0.2 and LE 0.15 on the Snellen chart, whilst color vision was still, surprisingly, 15/15 (Ishihara) on both eyes.\nFundoscopy was pathognomonic for LHON with circumpapillary telangiectatic microangiopathy, swelling of the retinal nerve fiber layer (RNFL) - pseudo edema, and vessel tortuosity without leakage on fluorescein angiography (Figure 1c and Supplementary Figure 1B). The electrophysiology showed decreased N95 wave and delayed and decreased VEP P100 (Figure 1c). The patient was treated with intravenous corticosteroid therapy Solumedrol i.v. (1 g/day) for 3 days without improvement. Over the next 5 months, his visual acuity further deteriorated to counting fingers at 1 m and his visual field scotoma enlarged. At 14 months, after 9 months of legal blindness, numerous fenestrations in central scotoma appeared and the patient VA improved to 0.2. During the next 3 years, the patient experienced continuous VA improvement. Visual acuity improved to 0.7 (Figure 1d), whilst the visual field has been continuously improving during the follow-up period (Supplementary Figure 3). It is also of interest to note excellent late improvement of color vision.\nBoth of our patients had genetic testing for LHON after the presentation. They were first tested for three common mutations. Then, next-generation sequencing (NGS) of the mtDNA and NGS of the clinical exome (panel for the optic atrophy mutations known at that time) were carried out, followed by whole exome sequencing, which were all negative. For 14 and 12 years, respectively the patients were without a confirmed diagnosis up until recently when they were retested and DNAJC30:c.152G>A pathogenic homozygous variant c.152A>G (p.Tyr51Cys) in DNAJC30:c.152G>A gene was confirmed.\nA short phenotype description of both patients was included in the article by Jarc Vidmar et al. due to some changes in mtDNA which later were not identified as pathogenic.\nBoth of our patients had visual acuity improvement which was modest in case 1 (started at year 7 and improved from NADIR off chart to 0.1 during the next 7 years), and significant in case 2 (started at month 14 and continued for the next 2 years to reach stable 0.7 bilaterally). The visual acuity improvement in case 2 was accompanied by an almost complete recovery of the color vision, whilst there was no improvement of color vision in Case 1 (Figure 2). The visual recovery in Case 2 corresponded well to the VA change. During the period of VA deterioration, there was an enlargement of the central scotoma in the visual field. At 14 months, first fenestrations in the visual field appeared and VA started improving (Supplementary Figure 3).\nThe peripapillary RNFL thickness decreased during the chronic phase in both patients, even with improved and stable visual acuity, and corresponded with the progression of the optic disc atrophy (Supplementary Figures 4, 5). In comparison to the controls, there was significant thinning of 360-degree retinal thickness in both patients (Supplementary Table 2). The greatest thinning was present in superior temporal, temporal, and inferior temporal parts both at 3.5 and 12 years (Supplementary Table 2). When we compared the RNFL thickness between the 3.5 and 12y check-up, Case 1 had an average decrease of the peripapillary RNFL thickness from 47.43 to 44.86 mum RE and from 42.71 to 40.14 mum on the LE. The greatest thinning between 3.5 and 12 y check-ups was noticed in the inferior temporal part of the optic disc (8.77% RE and 13.33 % LE). In Case 2, peripapillary RNFL thickness decreased from an average of 49.14 to 44 mum RE and 51.86 to 43.57 mum LE for all sectors. The greatest thinning was present in the inferior temporal quadrant of the right eye (14.29 %) and the superior temporal quadrant of the left eye (27.87%).\nCase 2 had significant improvement in visual function which was also confirmed on microperimetry (Supplementary Figure 6). The first microperimetry was performed at month 14, when visual acuity started to improve. As can be seen, at onset, there was abnormal retinal sensitivity (0 dB) at all spots. The second recording was made 3.5 years after the onset, with the visual acuity bilaterally 0.7 when the mean sensitivity (MS) significantly improved (RE 6.3 dB +- 4.6 dB; range, 0-14 dB; LE 6.5dB +- 6.1dB; range 0-18 dB). The biggest MS improvement was noticed in temporal and nasal macular areas. At the last follow-up, MS somewhat decreased (RE 4.3 dB +- 4.7 dB, range 0-18 dB; LE 4.8 dB +- 5.03 dB, range 0-14 dB). The MS decreased on average RE 2 dB +- 3.9 dB and LE 1.75 dB +- 6.3 dB. Spatially, the most functional were the peripheral regions, especially the nasal and temporal macular area, while the lowest function was detected in the superior and inferior parafoveal region and in the area corresponding to the foveal center (Supplementary Figure 6). Fixation was relatively stable and almost central on all three visits (Supplementary Figure 6).\nBoth of our patients had thinning of the overall retina, RNFL, GCL, and IPL in all ETDRS quadrants in comparison to healthy controls, whilst the outer retinal layers were well-preserved in comparison (Supplementary Figures 7-9).\nThe delayed and decreased VEP P100 wave in the acute phase of the disease were present in both patients (Figures 1a,c). Case 1 had normal PERG at the first visit, while the N95/P50 ratio became abnormal 3 months later. At the last visit 4 years later, the quality of PERG recording was poor (probably due to problems with fixation caused by low visual acuity), however, an abnormal N95/P50 ratio was seen at least on the left eye, whilst the VEP P100 wave became undetectable. In Case 2, the amplitude of the N95 wave improved, but it remained abnormally shaped and at the level of the isoelectric line; the N95/P50 ratio remained abnormal (under 1), indicating dysfunction of retinal ganglion cells. The amplitude of the P 100 wave improved, but the latency remained delayed (Supplementary Figure 10).",
"gender": "Male"
}
] |
PMC9649972
|
[
{
"age": 81,
"case_id": "PMC5019914_01",
"case_text": "An 81-year-old grand-multiparous woman (G10 P8) presented to our clinic complaining of a vaginally protruding mass and urinary incontinence. The urinary incontinence was mixed (urgency and stress incontinence); however, the SUI component was dominant. Her past medical history was unremarkable. The general systemic physical examination was normal. On pelvic examination, total pelvic organ prolapse with anterior-posterior and apical prolapse (grade IV) was noted (Figure 1). A surgical approach including vaginal hysterectomy, anterior four-arm mesh implant, posterior large segment vaginal enterocele repair, and perineoplasty with levator ani fixation was planned.\nOn the operation day, the patient was placed in dorsal lithotomy position under spinal anesthesia. A pericervical circular incision was performed on the vaginal mucosa. The vesicovaginal cleavage plane was found, and the bladder was retracted anteriorly. From the posterior of the cervix, peritoneal entry into posterior cul-de-sac was accomplished. Bilateral cardinal ligaments and sacrouterine ligaments were clamped with Heaney clamps, cut, and suture ligated. Bilateral uterine arteries were clamped, cut, and suture ligated. The anterior cul-de-sac peritoneum was opened. The uterine fundus was held with clamp and pulled out from the vagina by tumbling it backwards. Bilateral round ligaments, uteroovarian ligaments, and bilateral fallopian tubes were clamped, cut, and doubly ligated. McCall culdoplasty was performed with high peritonization. The vaginal cuff was closed in a continuous fashion with 2/0 polyglactin suture. The vaginal hysterectomy was thereby completed. A linear incision was performed on the anterior vaginal mucosa, on about 2.5 cm below the external urethral opening, and the space was dissected until reaching the bladder base. Vesicovaginal ligaments were retracted laterally. Proximal part of the mesh was passed over arcus tendineus fascia pelvis (ATFP) with an obturator fossa guide. The posterior part of the four-arm mesh was passed through the obturator foramen (Figure 2). The anterior arms were placed as a midurethral sling as in the intravaginal slingplasty (IVS) procedure, supporting the midurethra and bladder (Figure 3). Posterior fringes of the mesh were fixed on sacrouterine and cardinal ligaments. About an 8-10 cm piece of monofilament, inelastic polypropylene tape is attached to the underside of the vaginal apex. Polypropylene sutures are placed into both of the sacrospinous and cardinal ligaments and threaded through the lateral edges of the apical sling and tied down, restoring apical support. Posterior mesh arms were fixed at the skin level by performing traction, but anterior part was not fixed at the midurethra and skin level, and tension free placement was performed.\nVagina mucosa was sutured in a continuous locking fashion with 2/0 polyglactin suture. In the same session, rectocele repair was performed. Rectovaginal fascial dissection was performed from posterior vagina and grade IV posterior prolapse was dissected broadly up to the apical region. Fascial defect was repaired with 2/0 polyglactin suture and a purse suture was placed. Excess vaginal mucosa was excised. A horizontal incision was made on the perineum, and perineoplasty was performed by enhancing puborectalis muscle medial region fixation. The vaginal mucosa and perineum were repaired using 2/0 polyglactin suture. Hemostasis was confirmed and the operation was concluded by placing a gauze tampon in the vagina. There were no intraoperative or immediate postoperative complications.\nThe patient was discharged home at the second postoperative day. Follow-up visits at the first, 3rd, and 6th months were normal. There was complete symptomatic relief and objective cure of the POP and urinary incontinence symptoms.",
"gender": "Female"
}
] |
PMC5019914
|
[
{
"age": 53,
"case_id": "PMC3742348_01",
"case_text": "A 53-year-old Caucasian woman was referred to our Psychiatry Unit for hospitalization by her general practitioner. Anamnestic data collection revealed that the patient had had a difficult adolescence, due to the fact that her father had had a mistress and suffered from pathologic gambling. Notwithstanding, she had not experienced any previous psychopathologic problems in the past. She was a housewife with two daughters, and the eldest daughter had always been in conflict with her mother. On the day of her admission to hospital, the patient had a fatuous expression, seemed apathetic, and was suffering from considerable psychomotor retardation. She was distrustful of other patients because they were \"too intrusive\". However, when approaching other patients, she showed a childish attitude and was disrespectful of conventional interpersonal distances. The patient had the delusional belief that her eldest daughter, whom she thought had disappeared for 12 months, had been replaced by an impostor. In fact, the previous year the patient's daughter had left her house without telling her mother. The patient tried to get in touch with her, and the girl answered the phone saying that she was at work. Because her workplace was quite far off from her house, the patient thought that it was not possible for her daughter to arrive at work in such a short time. Hence, she believed that the person she had spoken to over the phone was an impostor who was replacing the daughter whom she thought had disappeared.\nHer delusional belief was characterized by incorrigibility and unwarranted subjective conviction. The patient had two \"proofs\" to justify her belief: the distance of the workplace and the impostor's makeup, which was heavier than that worn by her daughter.\nThe patient was experiencing not only the tragedy of a mother who had lost her daughter, but also the frustration of continuous deception by the \"double\"/impostor. Indeed, the patient thought that the \"double\" was imitating her daughter's way of speaking so as to convince her (the patient) that she (the \"double\") was her daughter. The patient had no idea where her daughter could be. However, she did nothing to find out where she was. In addition, even though she considered the impostor to be a menacing presence, the patient had a passive attitude towards the impostor, and treated her with indifference. Her mood was deflected owing to her daughter's disappearance. Obviously, the patient had no insight into her illness. The Capgras delusion was the only unusual belief presented by this patient, who did not show any other psychotic symptoms. The clinical picture of this patient was peculiar: she was tormented by the thought of the \"double\" who, in addition, provoked a feeling of disgust. This feeling was caused by the fact that the \"double\" treated the patient in a confidential way in order to deceive her without feeling any real affection. This thought, which was particularly intrusive, caused her considerable distress and even disturbed her sleep; almost every night, she had difficulty in falling asleep at the thought of the painful condition of deception that she had to endure. In addition, this delusional belief was presented to the medical interviewers in an obsessive way, with perseveration regarding the subject (she constantly repeated that the woman was not her daughter), and the thought content restricted to it. The story about her daughter was the answer to simple questions that had nothing to do with the topic. The intrusive thoughts pertaining to her daughter's disappearance and to the impostor were always present and did not fluctuate much over time.\nGeneral physical examination was within normal limits. She did not drink alcohol or coffee, and did not use any illicit or recreational drugs. The Mini-Mental State Examination (MMSE) was 27/30, indicating normal cognition. Items of the MMSE that the patient was less able to complete pertained to calculation and to short-term and long-term memory. The Structured Clinical Interview for DSM-IV Axis II Personality Disorders indicated an unspecified personality disorder, with a preponderance of paranoid and obsessive-compulsive personality traits. The electroencephalogram was characterized by background alpha activity and rapid rhythms in the frontocentral regions, bilaterally, as shown in Figure 1. Magnetic resonance imaging (images obtained through fluid-attenuated inversion recovery, spin echo, and turbo field echo techniques, diffusion weighted in axial, sagittal, and coronal planes) showed moderate lesions in the frontal subcortical white matter and in the semioval centers on both sides. In particular, in long repetition time sequences, these cerebral areas showed hyperintensities compatible with a picture of gliosis, as shown in Figure 2.",
"gender": "Female"
}
] |
PMC3742348
|
[
{
"age": 24,
"case_id": "PMC4217363_01",
"case_text": "A 24-year-old unmarried female presented to the outpatient clinic with painful swelling of the right sternoclavicular joint of 2-month duration without any discharging sinus (Figure 1). The swelling was gradually increasing in size and was accompanied with mild pain. The pain was dull, continuous, and limited to the site of the lesion. She also complained of neck stiffness and pain on neck movements. There was no history of any injury. History of cough, weight loss, night cries (severe pain at night), and low grade fever was present for the past 4 months. There was no history of previous tuberculosis or contact with an open case of tuberculosis. She had been prescribed several antibiotics and analgesics at another centre but had no symptomatic improvement. On physical examination the swelling (2 x 3 cm) was present over right sternoclavicular joint and was associated with presence of mild tenderness, erythema, and local rise of temperature. Laboratory tests revealed haemoglobin of 10.4 gm%; total leukocyte count was 10.300/mm3. Her ESR was 34 mm in first hour. She was negative for HIV based on ELISA method. On radiographic evaluation there was destruction with sclerosis on the medial end of the right clavicle along with features of diffuse pulmonary infiltrate (Figure 2). MRI revealed bilateral upper lung lobe infiltrate with arthritis of right sternoclavicular joint, with regional fluid collection. A destruction of the atlanto-axial junction, D7-8 intervertebral disc space along with a pus collection from D5 to D8 region could also be appreciated (Figures 3(a), 3(b), and 3(c)). An early morning sputum sample was sent for Ziehl-Neelsen (ZN) staining and it came out positive suggesting the diagnosis of pulmonary tuberculosis. Fine needle aspiration of the right sternoclavicular lesion was done using a 22-gauge needle and sent for Gram staining, staining for acid-fast bacilli (AFB), histopathology, and cultures including a tubercular culture. The histologic picture was that of chronic inflammation with a caseating granuloma compatible with tuberculosis. The Ziehl-Neelsen stained smear also showed the presence of acid-fast bacilli (AFB), confirming the diagnosis of tuberculosis. The culture for Mycobacterium tuberculosis came out as negative. Antitubercular chemotherapy with four first line antitubercular drugs (rifampicin, isoniazid, ethambutol, and pyrazinamide) was started. The patient had a good clinical response within 6 weeks and was switched to three drugs (rifampicin, isoniazid, and ethambutol) after 3 months of therapy with four drugs. The clinical, haematological, and radiological parameters showed complete healing of the lesion after 1 year of treatment with ATT, which was further continued for a total duration of 18 months. After successfully completing the therapy for 18 months, the patient was followed up for 2 years and showed no recurrence of symptoms.",
"gender": "Female"
}
] |
PMC4217363
|
[
{
"age": 48,
"case_id": "PMC7318809_01",
"case_text": "In 2006, a 48-year-old male presented to an outpatient dermatology clinic with an enlarging cutaneous lesion on the right scapula. Histologic examination showed invasive BSCC. He underwent wide local excision, with the closest peripheral margin reported at 1 mm. He then received adjuvant external beam radiotherapy (45 Gray (Gy) in 15 fractions) due to the narrow margins. Two years later, he developed cutaneous recurrence at the periphery of the radiation field with clinical right axillary lymphadenopathy. A biopsy of the cutaneous lesion and fine needle aspiration of the right axillary lymph node confirmed a locally metastatic BSCC. He subsequently underwent a right axillary complete lymph node dissection with 3/18 positive nodes. He was treated with adjuvant chemoradiotherapy with weekly cisplatin and 54 Gy of external beam radiation in 30 daily fractions to the right axilla and supraclavicular lymph nodes.\nHe had stable disease without recurrence until 9 years later, when he developed new onset neurological symptoms including headaches and photopsia. A subsequent brain magnetic resonance imaging (MRI) showed a 4.2 cm, large, irregular tumor in the right occipital lobe (Figure 1). He underwent parieto-occipital craniotomy for gross total resection of the tumor, with histological examination demonstrating BSCC. He then received adjuvant fractionated stereotactic radiotherapy (30 Gy in 5 fractions over 1 week). A staging computed tomographic (CT) scan of the chest, abdomen, and pelvis did not show any other evidence of metastasis. Post-craniotomy, his neurologic symptoms returned; however, repeat biopsy revealed necrotic brain tissue without malignancy. He is routinely seen in follow-up and is currently stable, without evidence of relapse. Immunotherapy will be trialed if there is evidence of disease progression.\nAll the biopsies were retrospectively reviewed. Identical features of BSCC were present in all samples (Figure 2(a)). P16 immunohistochemistry was performed on samples from the brain lesions, which showed strong and diffuse cytoplasmic and nuclear positivity (Figure 2(b)). HPV DNA detection by genotyping demonstrated HPV16 positivity.",
"gender": "Male"
}
] |
PMC7318809
|
[
{
"age": 36,
"case_id": "PMC4659706_01",
"case_text": "A G2P2 36-year-old female presented to her primary care physician for enlarged cervical and axillary lymph nodes in December 2010. She had no relevant family history nor known comorbidities apart from obesity (BMI: 33.9 kg/m2). The two previous pregnancies and deliveries had been uneventful. A routine blood test showed leucocytosis and lymphocytosis (55.340/mcl and 35.417/mcl, respectively), with mild anaemia (haemoglobin 11.5 g/dl). The immunophenotype of the peripheral blood revealed monoclonal B-lymphocytes (CD5+, CD23+) compatible with B-CLL. A fluorescence in situ hybridisation (FISH) test showed a chromosome 13 deletion (13DS319). A whole-body computerised tomography (CT) scan confirmed multiple pathological lymph nodes at cervical, mediastinal, axillary, coeliac, hepatic, and retroperitoneal stations. She received rituximab/cladribine combination for 4 cycles followed by maintenance rituximab every 2 months for a total of eight administrations. No significant toxicities were reported and the patient achieved a clinical and radiological complete response, with minimal circulating residual disease. Seventeen months after the end of rituximab, the patient got unintentionally pregnant. Her white blood cell count was 15.350/mcl with 9.970 lymphocytes/mcl, and all the other haematological parameters were within the norm. A cervical, axillary, and inguinal ultrasound was normal and the embryo was well implanted. At 28 weeks gestation, a glucose curve demonstrated gestational diabetes that was treated with diet and subcutaneous insulin. The foetal parameters were normal, without intrauterine growth restriction (IUGR) or macrosomia. At 32 weeks gestation, the patient presented with high fever, shivering, and cough. A thoracic ultrasound performed demonstrated left lobar pneumonia that was successfully treated with intravenous ceftriaxone and clarithromycin. At 34 weeks, the patient developed cholestasis with elevated liver enzymes, hyperbilirubinaemia and pruritus treated with ursodesossicholic acid; at 36+ weeks gestation, steroids were administered in order to increase the foetal pulmonary surfactant, as an amniocentesis performed showed that full foetal maturity was not yet reached. Because of the concomitant presence of cholestasis and suspicion of maternal disease progression (progressive leucocytosis, lymphocytosis, and thrombocytopenia) an increased risk of endouterine death was recognised and anticipation of labour was decided. Therefore, at 37 + 4/7 weeks, labour was induced with cervical prostaglandins and the patient delivered a healthy 3,580 g female baby, with an Apgar score of 10/10 at 1 and 5 min, respectively. There were no obstetric or neonatal postpartum complications. Four months after delivery, her lymphocyte count started to increase and an ultrasound assessment showed several pathological lymph nodes (cervical, axillary, hepatic). She remained under close observation with monthly haematological and clinical examinations. At the time of this report, she is still under surveillance without any treatment.",
"gender": "Female"
}
] |
PMC4659706
|
[
{
"age": 63,
"case_id": "PMC7566087_01",
"case_text": "A 63-year old woman with a medical history of combined liver and kidney transplantation due to autosomal dominant polycystic kidney disease in 2016 was referred because of iron deficiency anemia and a persistent cough.\nApproximately one year prior to admission, the patient had a colonoscopy because of a positive fecal occult blood test, which showed the presence of diverticulosis and internal hemorrhoids. Approximately 6 months later a control colonoscopy and a gastroscopy were planned because of worsening anemia with iron deficiency. In addition, a few weeks before presentation, the patient developed a non-productive cough and a low-grade fever. A chest X-ray revealed multiple bilateral patchy lung infiltrates. This was confirmed by computed tomography (CT), raising the suspicion of an underlying opportunistic infection or lymphoproliferative disorder (Fig. 1).",
"gender": "Female"
},
{
"age": 7,
"case_id": "PMC7566087_02",
"case_text": "Upon admission, the patient reported an ongoing dry cough, fatigue, intermittent fever and night sweats. She had noticed a weight loss of 3 kg in the last 3 months. On examination, body temperature was 37.9 C, oxygen saturation was 98 % while breathing ambient air, other vital signs were normal. She looked pale but was comfortable. The lungs were clear on auscultation, with no crackles nor rhonchi. There were no lymphadenopathies noted, further clinical examination was unremarkable. Laboratory findings (Table 1) showed a decreased hemoglobin level of 8.1 g/dl (normal value, >12 g/dl), an elevated C-reactive protein level of 32 mg/L (normal value, <5 mg/l), a normal total white blood count with neutrophilic predominance. Electrolytes and liver function were normal. Creatinine level was in line with previous values. Additional medical history included nephrectomy of the right native kidney in 2016 at the time of transplantation and cytomegalovirus reactivation early after transplantation for which a 3 months course of valganciclovir was administered. Maintenance medication consisted of mycophenolate mofetil 1000 mg daily, tacrolimus 4,5 mg/day and a calcium/vitamin D supplement. The patient was born in Suriname. She lived there until she was 7 years old and then moved to the Netherlands. She moved to Belgium at the age of 11, where she currently resides. There was no history of recent travels outside Europe. She had never smoked. The donor was a 50 year old male originally from Flanders, Belgium who died from a head trauma in a traffic accident. He had no medical history, took no maintenance medication and had a negative infectious screening at the time of donation except for a positive CMV serology. There were no post-transplant diseases reported in the other organ recipients.\nOn admission a bronchoscopy was first performed, which was macroscopically normal. Cultures and a respiratory PCR panel of the lavage fluid were obtained. Colonoscopy showed a bulging mass arising from the ileocecal valve, suspicious for a tumoral process from which biopsies were taken (Fig. 2).\nHence, a tentative diagnosis of a colorectal tumor was made. However, given the patient's immunocompromised state and the bilateral patchy lung infiltrates, the suspicion of a concomitant opportunistic lung infection remained.\nConsidering the hypothesis of colon cancer, additional abdominal imaging was warranted. A positron emission tomography-CT (PET/CT) with 18F-fluorodexyglucose (18F-FDG) was performed to evaluate the lung lesions, and as a staging tool for the putative colon cancer. PET/CT showed multiple mesenteric lymph nodes and a tumoral mass in the terminal ileum at the ileocecal valve and one in the descending colon (Fig. 3). These radiographic findings were highly suspicious for an underlying post-transplant lymphoproliferative disorder (PTLD). In contrast, the diffuse pulmonary nodules and opacities throughout both lungs were rather suspected to be of infectious origin. There were hypermetabolic lymphadenopathies in the right lung hilum and at the right-sided pretracheal level (4R).\nDuring the patient's hospital stay, she developed intermittent high-grade fever (40 C) together with increasing C-reactive protein level (100 mg/L). Otherwise she remained in general good condition, without oxygen need. Repetitive blood cultures were all sterile.\nIn addition, cultures of the bronchoalveolar lavage came back negative, including auramine staining and culture for acid-fast bacilli, as was aspergillus antigen (galactomannan). The respiratory panel (polymerase-chain-reaction, PCR) showed only the presence of respiratory syncytial virus (RSV), which was being considered clinically irrelevant. PCR for cytomegalovirus and pneumocystis pneumonia were also negative.\nAdditional blood tests were negative for Epstein-Barr virus DNA but revealed an increased blood level of 1,3- beta-d-glucan (90 pg/mL; <60 pg/mL: negative; >80 pg/mL: positive) and negative galactomannan (index 0.3).\nSince there was still no clear diagnosis, the patient was referred to the abdominal surgery department for an exploratory laparoscopy with lymph node excision for pathological examination, culture, panbacterial PCR and panfungal PCR.\nWhile awaiting the results of the lymph node specimen, the pathological examination of the ileocecal mass became available. It showed inflammation with lymphocytes and histocytes without signs of malignancy. In the cytoplasm of the histocytes rounded organisms were identified (Fig. 4). Grocott's methenamine silver stain revealed organisms morphologically consistent with Histoplasma capsulatum, these results were later reproduced on the lymph node biopsy. Eventually, culture and panfungal PCR of the lymph node confirmed the presence of Histoplasma capsulatum.\nA diagnosis of disseminated histoplasmosis with pulmonary and intestinal involvement was convincingly made and the patient was started on high dose itraconazole (loading dose of 200 mg three times daily for three days, subsequently twice daily). At that time, we took a thorough lifelong travel history which revealed travels to North America (New York City and Washington D.C.), Suriname and Indonesia more than 20 years prior to transplantation.\nThe patient remained febrile throughout the first two weeks of antifungal therapy. Itraconzole blood concentrations were within the therapeutic range (1-2 mg/L). Tacrolimus oral dose had to be reduced from 4.5 mg daily to 0.5 mg/day as a result of the known drug-drug interaction between itraconazole and tacrolimus in order to maintain target concentrations. Approximately after one month of treatment, the patient was discharged from the hospital while continuing to have a cough and fatigue, whereas the fever resolved, and her C-reactive protein level decreased to near normal.\nTen days after discharge the patient was readmitted with diffuse abdominal pain, nausea and vomiting. She reported absence of stool for 5 days. On clinical examination the abdomen was distended, no muscle resistance observed, and bowel sounds were reduced. CT revealed a small bowel obstruction secondary to thickening of an ileal intestinal segment. The patient was conservatively managed with intravenous fluid, a nasogastric tube in suction and she was put on IV posaconazole as IV itraconazole is not available in Belgium. While this strategy initially seemed successful, one-week later symptoms recurred and a decision for surgery was made. Laparoscopic resection of two small bowel segments was performed. Histological examination of both specimens confirmed active histoplasmosis infection as the underlying cause of obstruction. Six out of 10 resected lymph nodes also showed signs of active infection. After regaining intestinal transit, oral itraconazole was restarted with a 3-day loading dose and continued at a maintenance dose of 2 x 200 mg/day for a planned duration of 12 months. Five weeks after discharge from the hospital the patient started to have improved appetite and regained weight. Fever and cough had disappeared. A plain chest x-ray demonstrated partial regression of the lung lesions. Itraconazole blood concentration remained within the therapeutic range.",
"gender": "Male"
}
] |
PMC7566087
|
[
{
"age": 73,
"case_id": "PMC8226359_01",
"case_text": "A 73-year-old man noticed that he could not chase a golf ball 2 months previously, and also became aware of narrow field of vision and metamorphopsia in the right eye. At the visit to an ophthalmologist, he was found to have a large nonpigmented dome-shaped choroidal mass in the superotemporal quadrant of the midperipheral fundus of the right eye, associated with serous subretinal fluid, which extended to the macular area and inferior to the choroidal mass (Figure 1A and B). The vitreous and anterior chamber in the right eye had no pigments or cells. The left eye had nothing particular. The best-corrected visual acuity in decimals was 0.4 in the right eye and 1.2 in the left eye. The intraocular pressure was 15 mm Hg in the right eye and 17 mm Hg in the left eye. He had been undergoing hemodialysis 3 times a week for 3 years due to chronic renal failure from glomerulonephritis. He had no systemic symptoms and was well with daily medications of amlodipine 10 mg, benidipine 4 mg, clopidogrel 75 mg, lansoprazole 15 mg, precipitated calcium carbonate 1000 mg, calcium polystyrene sulfonate 1000 mg, cinacalcet hydrochloride 25 mg, and pantethine 300 mg. He also took intravenous injection of maxacalcitol 5 microg 3 times a week at the time of hemodialysis and subcutaneous injection of darbepoetin alfa 40 microg once a week.\nWith the diagnosis of metastatic choroidal tumor, primary and other metastatic sites were searched for by whole-body 2-[18F]fluoro-2-deoxy-D-glucose PET (FDG-PET). Abnormal uptake was found in the prostate (standardized uptake value [SUVmax] = 4.75; Figure 2C), vertebral bones (SUVmax = 8.01; Figure 2D), bilateral hilar and mediastinal lymph nodes (SUVmax = 5.77; Figure 2E), and bilateral lung fields, in addition to the right eye (SUVmax = 3.31; Figure 2B). The combined computed tomography (CT) scan showed multiple lung-field nodular lesions on both sides (Figure 2F), indicative of metastatic lesions in the lung. Head magnetic resonance imaging showed an intraocular mass with mildly high T1-weighted signal, mildly low T2-weighted signal, and high diffusion-weighted signal in the right eye (Figure 2A), but no intracranial abnormalities. He was referred to a urologist for prostate cancer as the primary site. Serum PSA was extremely elevated to 541 ng/mL, which supported prostate cancer as the primary site. He began to receive subcutaneous injection of degarelix acetate at the initial dose of 240 mg, followed by 80 mg every 4 weeks. One month after the initial visit, the choroidal tumor resolved rapidly and became flat degeneration in response to the initial dose of hormonal therapy (Figure 1C). Two months after the initial visit, needle biopsy of the prostate showed poorly differentiated adenocarcinoma with Gleason score of 4 + 4 = 8 (Figure 3A and B), which was indeed a presumed value as he was under hormonal therapy. He immediately underwent surgical castration, and degarelix was discontinued.\nOne year after the initial visit, the serum PSA in the patient with no medication remained at the low level of 0.48 ng/mL. The serum PSA was gradually elevated to 2.34 ng/mL 2 years after the initial visit, further elevated to 3.56 ng/mL 3 years after the initial visit, and to 6.05 ng/mL in the following 3 months. CT scan demonstrated multiple bony osteosclerotic metastases in thoracic and lumbar vertebrae but no metastasis in the liver or lymph nodes. At this time point, therefore, he began to take oral bicalutamide 8 mg daily, and in 1 month, the serum PSA decreased to 0.61 ng/mL. The serum PSA was elevated again to 1.22 ng/mL 5 years after the initial visit, and thus, bicalutamide was replaced with enzalutamide at a full dose, 160 mg daily, leading to the decrease of serum PSA to 0.38 ng/mL in 2 weeks. In a month, however, because of hypertension, the administration of enzalutamide was reduced to half a dose 80 mg daily, and in another month, was replaced with abiraterone acetate at half a dose, 500 mg daily in combination with prednisolone 10 mg daily. The serum PSA became an undetectable level (<0.009 ng/mL) in 2 weeks. The patient was well with hemodialysis and maintained the undetectable PSA level with continuous abiraterone until the latest follow-up 6.8 years after the initial visit. Throughout the course, the right eye showed flat retinal regeneration corresponding to the area of the previous choroidal tumor (Figure 1D). The best-corrected visual acuity was 1.0 in both eyes.",
"gender": "Male"
}
] |
PMC8226359
|
[
{
"age": 12,
"case_id": "PMC4768458_01",
"case_text": "A 12-year-old male child with a 3-month history of bilateral, constant, radiating lower limb, and back pain was brought to Institute Rotary Cancer Hospital (IRCH) by his father. The patient described the pain as an aching, throbbing, stabbing pain, and rated it a 9/10 on the Verbal Analogue Scale (VAS). He stated that he had not been able to walk or do any of his regular physical activities for a month. He had associated weakness and paresthesias in his legs bilaterally. He was unable to sleep at night for the past 2 weeks, due to back pain that was elicited by lying down. The patient also had associated constipation and urinary retention for which he had to be catheterized.\nWhen the patient came to the pain clinic, he was held in his father's arms, as the patient was paralyzed from the waist down. On physical examination, the patient appeared to be in severe pain. Deep tendon reflexes were not present in bilateral lower limbs. Muscle strength was 2/5 on the Oxford Scale (muscle strength grading scale) in bilateral limbs (hip/knee/ankle). Sensation to pinprick and soft touch were diminished over the gluteal regions and legs. Upon palpation of the patient's legs, he felt electricity running through his legs. The patient denied any other symptoms.\nIn March 2015, the patient had sudden onset of excruciating left lower quadrant abdominal pain. In April 2015, he underwent an exploratory laparotomy and excision of a growth between the spleen and renal space. Pathology reports suggested the growth was a CD99 and vimentin-positive YST. Further tests were conducted such as an ultrasound to see if there was any involvement of the testes. Results showed no gonadal involvement.\nThe patient's father stated that the patient was attending school, running, and was pain-free until 15 days postoperatively. The doctors at his local hospital were unable to find the etiology of his postoperative pain. The patient was referred to a different hospital for consultation. A CT scan was done that showed a heterogeneous mass in the left suprarenal region, suggestive of a residual mass that was infiltrating the posterior abdominal wall and muscle. A whole abdomen contrast-enhanced computed tomography (nonionic CECT) revealed a devascularized left kidney possibly due to left renal artery injury. After various inconclusive testing, the patient was referred to IRCH (AIIMS.)\nAt the time of the patient's presentation at IRCH his condition had progressively worsened. He had developed bilateral paralysis, severe lower lumbar back pain, and bilateral leg pain. Many investigations were initiated which included complete blood count (CBC), liver function tests, complete metabolic panel, blood test checking for thyroid-stimulating hormone (TSH), beta-human chorionic gonadotropin (beta-HCG), and alpha-fetoprotein (AFP) levels, comparison CECT scan, ultrasound of neck to check for lymph node involvement.\nCBC showed hemoglobin was 10.4 (normal range: 13.5-17.5 g/dl for males), thin layer chromatography was 24.8 (normal range: 4000-11,000). Liver function tests showed that bilirubin levels were below the normal range at 0.2 mg% (normal range: 0.8-1 mg%), TSH and beta-HCG were within normal limits, but AFP 3 was 0.52 ng/ml (normal range: 0.89-8.78 ng/ml). Ultrasound of the neck showed no sign of metastasis to lymph nodes or glands. The CECT scan was unchanged compared to the previous scan. The mass seen previously was causing erosion of the left 12th rib with extension into neural foramina with suspicious intraspinal extension. No metastatic lung nodules were visible.\nBased on the patient's history, physical exam and investigations, the diagnosis of primary retroperitoneal extragonadal YST extending into the neural foramina of the spinal cord at L1/L2 was made. The metastasis was causing compression of the spinal cord producing his paralysis. For management of this patient the medical oncologist, surgical oncologist, and radiologist were consulted. Due to the extent of cancer, further surgery was no longer an option. Although the paralysis was not reversible, the pain, with the help of proper pain management, and palliative care team was treatable.\nWhile interacting with the patient and his father, I could see that the patient's father was distraught about his son's condition. Medical treatments for the patient had taken a financial toll on the family. The patient's father had to sell off his land where he was farming in Patna, Bihar in order to pay for proper treatments. He expressed to me that he was willing to sell his house too if it meant we could make his son walk again. The patient's mother became severely depressed and threatened to commit suicide if her son's health did not improve. Despite explaining that at this stage only the pain of the patient could be managed and that the paralysis was permanent, the father was in denial. He kept saying, \"Please make my son walk again, that is, all I want.\" Family bonds are reasonably vulnerable during the time of distress, and the entire palliative care team provided a positive and supportive environment so that they could communicate their needs most effectively.\nThe patient was initially started on infusion morphine, which was dose titrated appropriately and later converted to tablet morphine. Dexamethasone was prescribed to reduce the swelling caused by the compression of the spinal cord. He was given gabapentin for the neuropathic pain, which was converted, to tablet pregabalin. Studies suggest pregabalin provides equivalent efficacy to gabapentin, however, at much lower doses. Because lower dosages can be used to treat neuropathic pain, it is likely that pregabalin will be associated with fewer dose-related adverse events such as dizziness, chest pain, difficulty breathing, and constipation. Pregabalin requires lower dosages, has a much higher bioavailability (90% vs. 33-66% of gabapentin) and is rapidly absorbed (peak: 1 h).\nMorphine reduced the pain from 9/10 to 4/10 on the VAS. To further relieve the patient's pain, we discussed chemotherapy and attempting a nerve block. The father cited apprehensions for both of these treatment options. The patient's father was explained the positive impact the procedure would have on relieving his son's pain, and that his son would be able to sleep peacefully and be pain-free. He was told giving chemotherapy would not have reversed the neurological deficit but would have definitely reduced the pain by treating the cause. The father had seen many unfortunate situations about what can happen after chemotherapy is given and explained to us how he knew some people that had died in his village after chemotherapy was given. He was further explained all the benefits chemotherapy would have on not only the pain the patient was experiencing but also in slowing down the progression of metastasis. All his questions were addressed, and he was told that the situation in which other people might have received chemotherapy might be different than his son's. When explained how attempting a nerve block could be beneficial, the father again refused and said he heard it would permanently damage his son's nerves. The whole palliative care team made many efforts to make the patient's father understand exactly how these treatments would be given as well as how all the side effects would be managed for both the nerve block and chemotherapy, but the father was convinced that these will only cause harm to his son based on what he had seen and what people told him about these medical advances in his village. Even after multiple attempts of ensuring the father that this would be the next best option for his son's pain, consent was not given, so these treatments were not given. One of the major components of palliative care is respect for patient's autonomy. Due to lack of health literacy there are many proven, working treatments that are simply not done.\nThe patient's pain was managed based on the World health Organizations Cancer pain protocol (WHO ladder). This included the analgesics tablet Morphine (P) 10 mg three tablets 4 hourly, tablet paracetamol (acetaminophen) 500 mg one tablet QID and tablet pregabalin 75 mg HS x 6 weeks. Anti-emetics were given to avoid nausea and vomiting, the patient was experiencing. For GI ulcer prophylaxis tablet pantoprazole 40 mg once daily was prescribed. Tablet dexamethasone 4 mg TDS x 7 days was also given and later changed to 2 mg TDS x 7 days. After monitoring the patient's pain and bringing it down to a 3/10 on the VAS, the patient was counseled and sent to a nonprofit organization called Cankids (Cankids is a registered charitable national society working to make a change for childhood cancer in India.) There, he would receive further pain management treatments and psychosocial support through counseling for him and his family.",
"gender": "Male"
}
] |
PMC4768458
|
[
{
"age": 24,
"case_id": "PMC4942733_01",
"case_text": "The patient was a healthy 24-year-old woman with an anterior open bite (3 mm overbite, 4 mm overjet, 2 mm Angle class II anterior occlusion, and 2 mm Angle class III posterior occlusion) who had been undergoing orthodontic treatment for 2 years (Fig. 1A-C). She presented to the Oral and Maxillofacial Surgery Center of Pontificia Universidade Catolica do Rio Grande do Sul for treatment of her dentofacial deformity, with a chief complaint of difficulty chewing with the front teeth. Written informed consent was obtained from the patient for publication of this case report, including accompanying images, and the manuscript was written in accordance with the CARE criteria.\nA cone-beam computed tomography (CBCT) scan was performed using an i-CAT system (Image Sciences International, Hatfield, PA, USA). Three-dimensional (3D) images were constructed using Dolphin Software (Dolphin Imaging and Management Solutions, Chatsworth, CA, USA). Surgical planning was based on the patient's chief complaint, facial analysis, and 3D cephalometric analysis. Based on these factors, monomaxillary surgery with Le Fort I osteotomy was chosen for 2 mm advancement of the posterior maxilla and a V-shaped segmental maxillary osteotomy between teeth UR3/4 and UL3/4 for 8 clockwise rotation and 5-mm down repositioning of the premaxilla, thereby modifying occlusion to Angle class I and closing the anterior open bite (Fig. 1D-F). Reconstructions of the segmented osteotomies showed a gap of approximately 4.1 mm in the area between teeth UR3/4 and UL3/4 and approximately 4.8 mm on the floor of the nasal fossa (Fig. 2). As such, the decision was made to place a bone graft.\nThe patient was placed under hypotensive general anesthesia. The maxillary vestibular approach was used for surgical access and detachment of the nasal fossa mucosa. Next, a Le Fort I osteotomy was performed and, after down fracture, a V-shaped segmental maxillary osteotomy was made between teeth UR3/4 and UL3/4 and behind the incisive foramen to correct the anterior open bite and over-projection of the anterior teeth. Osteotomies were performed using NSK VarioSurg piezoelectric instruments (NSK America Latina Ltda, Joinville, Santa Catarina, Brazil).\nThe splint was attached to the orthodontic appliance with a steel wire. Once the maxilla and mandible were stabilized in occlusion, the surgery was considered to be in accordance with the virtual plan. Then, as previously established, bone grafting was performed by placing 2 g of small Bio-oss granules (Geistlich Pharma AG, Wolhusen, Switzerland) into the surgical gaps. These areas were then covered with a Bio-Gide collagen membrane (Geistlich Pharma AG, Wolhusen, Switzerland).\nThe maxilla was positioned for rigid internal fixation with bilateral L-shaped miniplates in the zygomatic buttress and bilateral L-shaped microplates around the piriform aperture, to ensure stability of the collagen membranes for bone graft protection (Fig. 3).\nThe surgical splint remained in place for 30 days with maxillomandibular fixation, after which time the patient was instructed to follow a liquid/semisolid diet and avoids chewing. The overbite improved from -3 mm to 2 mm and overjet from 4 mm to 2 mm, ensuring closure of the anterior open bite and maintaining coordination between the posterior and anterior segments of dental occlusion at Angle class I (Fig. 1G-I) Repeat CBCT performed 6 months after surgery revealed bone formation with density greater than that of the tissue surrounding the segmental maxillary osteotomy, providing stable occlusion (Fig. 4).",
"gender": "Female"
}
] |
PMC4942733
|
[
{
"age": 86,
"case_id": "PMC9614080_01",
"case_text": "The patient, female, 86 years old, felt that her left eye was red and secretions increased in May 2020. She went to the local clinic and was given drug treatment (the specific medication is unknown). But the curative effect was poor. She went to the local hospital seven months later and was diagnosed as \"left eye tumor\". Then, she was recommended to go to the superior hospital for diagnosis and treatment.\nOn 27 January 2021, the patient went to the Lanzhou University Second Hospital and was diagnosed as \"left eyelid tumor\". On 1 February 2021, histopathological diagnosis was: (left eyelid conjunctiva) squamous epithelial papilloma, mild to moderate atypical hyperplasia of epithelium, accompanied by suppurative inflammation. Therefore, \"left eye conjunctival cryosurgery\" was performed under local anesthesia on 22 February 2021 and 16 March 2021.\nThe patient felt that the tumor in his left eye increased rapidly, accompanied by obvious swelling and pain, loss of vision and difficulty in opening her eyes. She was treated in the first people's hospital of Lanzhou city on 7 April 2021. The diagnosis was: space occupying in the left eye orbit, and surgical treatment was recommended.\nThe patient was admitted to Lanzhou Huaxia ophthalmic hospital for surgical treatment on 20 April 2021.\nEye examination: The upper eyelid of the left eye is red and swollen, the dermatoglyphs disappear, and it is difficult to open the eyes. The upper eyelid can touch a size of about 30 mm x 20 mm mass with unclear boundary, hard texture, poor activity, obvious tenderness, bulbar conjunctival congestion and edema, corneal conjunctivalization, and other structures cannot be seen clearly; the international standard visual acuity chart was used to check the visual acuity: the naked visual acuity was 0.2 in the right eye and no light perception in the left eye; the intraocular pressure was measured by non-contact tonometer: 11.5 mmHg (1 mmHg = 0.133 kpa) in the right eye and 46.5 mmHg (1 mmHg = 0.133 kpa) in the left eye (Figures 1A-C).\nOcular ultrasonography: the upper part of the left eyeball is about 30 mm x 19 mm heterogeneous hypoechoic mass with unclear boundary, pressed close to the eyeball wall and sunken into the ball.\nColor Doppler flow imaging (CDFI): point and strip blood flow signals can be seen in eyeball.\nEnhanced MRI examination of orbit and orbit: irregular soft tissue signal shadow can be seen in the left orbital diaphragm, inside and outside the muscle cone and lacrimal gland area, which is filled in the orbit as frozen and extends backward into the optic nerve canal. T1W1 shows equal signal, T2W1 and DW1 show slightly high signal, the internal signal is uneven, and the space occupying effect is obvious. The left eyeball is compressed, deformed and moved forward, the eyeball wall collapses, and the left optic nerve is compressed, the external rectus muscle of lacrimal gland was not clearly displayed. The left orbit and optic canal are enlarged, and no abnormality is found in the bone. The enhancement scan was performed immediately after 15 ml gadolinium diamine contrast agent was injected through elbow vein. It showed that the signal shadow of soft tissue in left diaphragm, inside and outside muscle cone and lacrimal gland area was significantly enhanced, and there was spotted low signal shadow inside, and there were no abnormal enhancement changes in the rest (Figures 2A,B).\nExclude cancer metastasis diagnosis: In order to exclude metastatic cancer, the patient underwent systemic examination, and no abnormality was found in gynecological examination; No space occupying lesions were found in brain MRI, chest x-ray examination, neck and abdominal ultrasonography (liver, gallbladder, pancreas, spleen and double kidneys); No obvious abnormality was found in liver and kidney function and blood routine. Metastatic cancer and systemic lesions can be excluded.\nLeft eye orbital tumor resection: Due to the patient's old age and the request of her family to retain the patient's eyeball, the \"left eye orbital tumor resection\" was performed under general anesthesia on 22 April 2021. The postoperative histopathological diagnosis was: (left eye) malignant tumor, consistent with squamous cell carcinoma, with extensive infiltration of cancer tissue into stroma and multifocal necrosis (Figures 2C,D).\nApoptosis detection: The cell apoptosis in patient tumor tissues was detected by mIHC(mutiplex immunohistochemistry). The expression of CASPASE3,8,9 and BCL2, BAX were determined by mIHC. It was showed that all of the apoptosis markers were extensively expressed in the tumor tissues, which infer to there was ubiquitous apoptosis in tumor tissues (Figure 3).\nThe immune cells infiltration detection: The immune cells infiltration in tumor tissues were detected by mIHC. CD3 is the total T lymphocyte marker, CD4 is the helper T lymphocyte marker, CD8 is the cytotoxic T lymphocyte marker, CD11C is the natural killer cell, and F480 is the macrophage marker. It was showed that there were lots of CD3, CD4, CD8 and F480 expression in tumor tissues, except for CD11C (Figure 4).",
"gender": "Female"
}
] |
PMC9614080
|
[
{
"age": 72,
"case_id": "PMC1236954_01",
"case_text": "A 72-year-old Caucasian woman was complaining of bloody stools and constipation for three months. There was a palpable mass 3-4 cm from the anal verge. A colonoscopy showed a tumor 3 cm from the anal margin with no other indication of multiple synchronous tumors in the colon. Biopsies of the tumor were positive for adenocarcinoma. An investigation with upper gastrointestinal endoscopy, computed tomography of chest and abdomen showed cholelithiasis with thickening of gallbladder anterior wall (arrow in the figure 1). No evidence of metastatic disease documented. Blood examinations showed anemia (Ht: 28,5% and Hb: 9,5 g/dL) and the rest laboratory evaluation was normal. The carcinoembryonic antigen (CEA) was: 15,9 ng/ml (range 0,0-10,0). She had a cholecystectomy and abdominoperineal resection of the rectum. The histopathological diagnosis was a moderately differentiated adenocarcinoma of the gallbladder (T2, N0, M0; stage II) and differentiated moderately adenocarcinoma of the rectum (pT2, N0, M0 in TNM/UICC, stage A of the Dukes staging system and stage B1 of the modified Astler - Coller classification). No adjuvant chemotherapy was required post-operatively. The patient joined a five-year follow up programme and is doing well six months after surgery.",
"gender": "Female"
}
] |
PMC1236954
|
[
{
"age": 79,
"case_id": "PMC6700242_01",
"case_text": "A 79-year-old man was admitted to our emergency room complaining fatigue, generalized weakness, nausea, and worsening of usual diplopia, following an episode of bronchitis treated with cephalosporins. Moreover, he received flu vaccination a few weeks before the onset.\nMG was diagnosed 8 years earlier after the onset of lid ptosis and head drop (class IIA according to the MGFA classification). Antibodies against acetylcholine receptor (AChR) and ryanodine receptor (RyR) were detected, but chest CT scan was negative for thymoma. So far, clinical symptoms had always been well-controlled by pyridostigmine, azathioprine, and low doses of steroids. Last neurological examination, performed 2 months earlier, revealed only mild diplopia on left lateral gaze after prolonged fixation.\nThe patient also suffered from a mild iatrogenic chronic sensorimotor axonal polyneuropathy due to chemotherapy administered after surgical resection of colon cancer; he also underwent ablation of two metastatic lesions in the liver, but the subsequent oncological follow-up was reported negative.\nOn admission, neurological examination revealed diplopia on lateral gaze, limitation in upward gaze, mild ptosis of the left eye after prolonged fixation, uncertainties at finger-to-nose test, mild proximal limb muscles fatigability, and absence of knee and Achilles reflexes. Brain CT scan and chest X-rays were negative.\nA putative diagnosis of worsening of myasthenia gravis was made and the patient was hospitalized due to concerns of respiratory failure, considering the age and the recent infection. Absence of lower limbs deep tendon reflexes was initially ascribed to the polyneuropathy. On admission, taking into account the mild presenting symptoms and the absence of respiratory involvement, Prednisone and Azathioprine dosages were increased (respectively from 7.5 to 12.5 and from 50 to 75 mg), withholding standard treatments for MG exacerbation, such as intravenous immunoglobulin or plasmapheresis.\nIn the first days of hospitalization, the patient developed progressive worsening of ocular movement abnormalities with horizontal and vertical gaze limitation, mild fluctuating diplopia in primary and lateral gaze, nystagmus on left lateral gaze, limb ataxia, and wide-based gait with multi-directional sways during Romberg maneuver. Additional findings included partial ptosis of the left eye, hands tingling, mild proximal weakness in lower limb, dysarthria, and facial asymmetry; nausea and episodes of vomiting persisted. While ophthalmoparesis could be compatible with MG, other clinical features suggested a different etiology.\nDespite the fact that one of the most common presentations of MG is represented by ocular symptoms, acute bilateral ophthalmoparesis can be also attributed to various etiologies (Table 1).\nBlood tests were unremarkable, except for mild hypercholesterolemia and increase of inflammatory indexes (C-reactive protein 0.71 mg/dl:normal value <0.5 mg/dl; erythrocyte sedimentation rate 35:normal value <20). Thyroid function, serum folic acid, and vitamin B12 dosages were normal. Antibodies against AChR and GQ1b were dosed.\nElectromyography, performed after 5 days from the symptom onset, revealed mildly increased latency of the compound muscle action potential (CMAP) of the right facial nerve and moderate chronic neurogenic abnormalities in the muscles innervated by the right L5 and the right C5-C6 nerve roots; right tibial and right ulnar nerve F-wave latency was normal. Repetitive nerve stimulation did not show a decremental response.\nBrain MRI revealed only mild chronic cerebrovascular disease and mild cortical and subcortical atrophy, without signs of acute cerebral lesions or Wernicke's encephalopathy (Figures 1A,B).\nClinical symptoms worsened up to complete external ophthalmoplegia and inability to walk unsupported with almost complete disappearance of upper limb reflexes. Another electromyography was repeated 3 days later, displaying a predominantly sensory polyradiculoneuropathy, characterized by increased facial nerve latency and absence of sural, ulnar, and radial sensory nerve action potentials (SNAP) (Figure 1C); ulnar nerve F-wave seemed not clearly detectable.\nCerebrospinal fluid (CSF) analysis, including virological investigations, was performed 6 days after symptom onset and resulted unremarkable, without albuminocytological dissociation (cells <1/mmc, proteins 24 mg/dl). Serum and CSF oligoclonal banding were absent.\nOncological screening, including neoplastic markers and full-body CT scan with contrast, performed due to the medical history of the subject, was negative for malignancies.\nThe workup suggested a diagnosis of acute polyradiculoneuropathy; thus, the patient was treated with five sessions of plasmapheresis, leading to stabilization of the clinical features and subsequent slow mild clinical improvement, especially of limb ataxia and, at a lesser extent, of gait ataxia and diplopia. Nausea and episodes of vomiting decreased too.\nAntibodies against ganglioside GQ1b turned out to be positive at high titer on serum (IgM 1/2560 and IgG 1/5120; cut-off <1/640), confirming the diagnosis of Miller-Fisher syndrome (MFS). Antibodies against AChR were positive but lower compared to the last known titer (36.3 pmol/ml 7.2 pmol/ml; normal values < 0.5 pmol/ml).\nAt discharge, the patient still presented severe ophthalmoparesis (only minimal ocular movements were possible), exhaustible left palpebral ptosis, facial asymmetry, gait ataxia (need for external support, maintenance of Romberg with multi-directional swinging with closed eyes), and slight weakness in proximal lower limb muscles, and brachioradialis reflex reappeared, though greatly reduced.\nThe patient underwent a cycle of physiotherapy and rehabilitation. After 2 months, without further therapy modifications, he was able to walk independently and the ophthalmoparesis markedly improved. Clinical evaluation showed mild convergence strabismus in primary position, mild limitation in horizontal and upward gaze, diplopia after 15 s on left lateral gaze, mild ptosis in the left eye after exercise, presence of the biceps and patellar reflexes, absence of limb or gait ataxia. Last electromyography showed a slightly prolonged ulnar F wave and persistence of the axonal sensory polyneuropathy.",
"gender": "Male"
}
] |
PMC6700242
|
[
{
"age": 38,
"case_id": "PMC8560288_01",
"case_text": "A 2600 g female infant was born to a gravida 3, para 2, 38 year-old HIV-positive female under highly active antiretroviral therapy (HAART) for two years. There was no history of exposure to alcohol, tobacco, teratogens, or ionizing radiation during pregnancy or of any other diseases. An ultrasound scan (USS) performed at 34 weeks of pregnancy reported a single intrauterine fetus in a vertex presentation with a single horseshoe-shaped ventricle, a considerable cortical mantle, and a fused thalamus without septum pellucidum (Figure 1). The other major organs were reported to be of normal appearance.\nAt 37 weeks, a caesarian section was done due to premature labor and fetal distress, and a female neonate was delivered. She was initially viable with APGAR scores of 6/6/8, at 1/5/10 minutes. Clinically, the neonate had microcephaly (28 cm), hypotelorism, and a single nostril giving a clear picture of a monkey-like head, known as cebocephaly (Figures 2 and 3). There were no other associated external abnormalities such as cleft palate, spina bifida, omphalocele, imperforate anus, or genital abnormalities (Figures 2, 4, and 5). Alobar HPE with cebocephaly diagnosis was made related to the above clinical presentation associated with USS findings showing a single dilated ventricle with a considerable cortical mantle and a fused thalamus with completely fused hemispheres but without septum pellucidum. The neonate was given supplemental oxygen (2 l/minute) due to distress, and 30 minutes later, she passed away due to severe respiratory failure. Any genetic exam or postmortem was not performed.",
"gender": "Female"
}
] |
PMC8560288
|
[
{
"age": 40,
"case_id": "PMC5622815_01",
"case_text": "Renal Cell Carcinoma (RCC) has also been called the \"Internist's tumour\" due to the myriad of ways it may present. Bellini duct carcinoma (BDC) is a rare type of RCC accounting for less than 3% of Renal Carcinomas. In Nigeria, BDC has been reported as a slightly higher fraction of RCC (4%)by Tijani et al. A 7-year retrospective review of RCC in our center between 2007 and 2014 during which a total of 51 cases of RCC were managed showed no case of BDC. Forty percent (40%) of BDC are known to present with metastatic disease with 66% succumbing to the disease within 2 years of presentation,. It has been found to be more common in men of African descent when compared with Caucasians. The typical clinical presentation is similar to that of clear cell RCC though symptoms from metastatic disease or paraneoplastic syndromes at presentation have been described. These features include gross hematuria, loin pain, loin mass and general weakness. Unusual presentations reported in literature include acute renal failure and cervical lymphadenopathy (Kru Lin et al), multiple osteoblastic bone lesions (Nakamura et al) and meningeal carcinomatosis (Ohnishi et al). The diagnoses in these cases were not made till autopsy due to the bizzare presentations. We present in this report a 40 year old man with a rare metastatic BDC to the iliac bone managed by the Urology and Orthopaedic Units, Obafemi Awolowo University Teaching Hospital, Ile-Ife, Osun state, Nigeria.",
"gender": "Male"
},
{
"age": 40,
"case_id": "PMC5622815_02",
"case_text": "A 40-year-old man presented to the Orthopaedic out-patient clinic on account of a month history of right sided pelvic pain and a limp following a trivial fall at home. There was no preceding history of similar symptoms, haematuria, loin pain or loin mass. There was no weight loss. Initial clinical evaluation was unremarkable. An Abdominopelvic Contrast Computerized Tomography Scan (CT scan) revealed an expansile lytic mass in the right iliac bone, eroding it and invading the contiguous iliacus and gluteal muscles (Figure 1 A). It also showed a large hypodense mass in the central portion of the right kidney, adjacent to the renal hilum with peri-hilar lymph node enlargement (Figure 1 B). The renal vein and inferior vena cava were however not involved.There were no other areas of metastasis. Based on the above findings, a diagnosis of Right RCC (Clinical Stage T3, N1, M1 (Stage 4) was made. He was subsequently scheduled for right radical nephrectomy via a right subcoastal transperitoneal approach. Intra-operatively, we found a solid right renal mass which had invaded the Gerota's fascia in some areas measuring 7 by 8 centimeters. It was resected en bloc with adjoining peri-hilar lymph nodes (Figure 2). Following recuperation, he had wide local excision of the right pelvic mass along with the diseased iliac bone and iliacus muscle through a right Ilio-inguinal approach. Both specimen had negative resection margins. Histopathologic evaluation of the resected kidney specimen revealed proliferation of malignant epithelial cells forming tubules which are cystically dilated. The renal stroma was desmoblastic and infiltrated by some of these malignant cells. Tumour was confined to the gerota's fascia. The findings were consistent with a tubulocystic variant of BDC. Evaluation of the iliac bone specimen was in keeping with a metastasis from BDC of the kidney. The patient made a smooth post-operative recovery and is being planned for commencement of immunotherapy with Sunitinib (Figure 1, Figure 2, Figure 3, Figure 4).",
"gender": "Male"
}
] |
PMC5622815
|
[
{
"age": 75,
"case_id": "PMC4322812_01",
"case_text": "A 75-year-old Chinese Singaporean lady with multiple comorbidities including Type 2 diabetes mellitus on insulin, hypertension, dyslipidemia, ischaemic heart disease, end-stage renal failure on hemodialysis, degenerative spondylosis and osteoarthritis, was admitted for fever, chills and rigors of one-day duration. There was also discharge of pus over her right femoral dialysis catheter.\nShe was diagnosed to have disseminated Methicillin-sensitive Staphylococcus aureus (MSSA) bacteraemia secondary to infected right femoral non-tunnelled dialysis catheter. Her first nine blood cultures grew MSSA, so did her wound culture. Her femoral line was removed and she was treated in medical intensive care unit (MICU) for her septic shock. She was referred to the infectious diseases (ID) team and she received systemic vancomycin, clindamycin and then cloxacillin over the course of several weeks as culture results became known. The patient subsequently improved clinically with resolution of fever and improvement of haemodynamic parameters. Her inflammatory markers including procalcitonin and white blood cell count showed decreasing trends. Approximately six weeks after admission, there was documented clearance of MSSA from her blood. The plan by ID was to continue intravenous cloxacillin for a total of six weeks from her last negative blood culture for the presumed endovascular infection although she had a normal two dimensional echocardiograph.\nUnfortunately her stay in hospital was delayed as she developed extensive right lower limb deep vein thrombosis, for which she was treated with heparin infusion, inferior vena cava (IVC) filter and subsequently warfarin. Approximately two months into her stay in hospital, she developed an episode of sepsis with desaturation, drop in Glasgow coma scale (GCS) and low grade fever. Urgent neuroimaging revealed no intracranial infarct or hemorrhage. However her subsequent four blood cultures, taken two days apart, all grew Elizabethkingia meningoseptica, which was susceptible to cotrimoxazole, levofloxacin, and minocycline, but resistant to amikacin. She was treated with intravenous antibiotics, comprising courses of cotrimoxazole, cefazolin and meropenem, after consultation with the ID team. Three days after her first positive blood culture for Elizabethkingia meningoseptica, she developed a red and painful left eye with blurring of vision.\nA referral to Ophthalmology was promptly made. On examination her right pupil was noted to be sluggish, and left pupil fixed. There was a reverse relative afferent pupillary defect (RAPD). Visual acuity in her right eye was 6/120 (without reading glasses) with no perception of light (NPL) in her left eye. Examination of her left eye showed an injected conjunctiva, hazy cornea with Descemet's membrane (DM) folds, and a deep anterior chamber filled with a hypopyon and fibrin. A glint of an intraocular lens could be seen. There was no view of the fundus but B-scan ultrasonography showed multiple vitreous opacities. The impression was that of left eye endogenous endophthalmitis, for which she underwent an intravitreal tap for vitreous culture, as well as injection of intravitreal vancomycin and amikacin. She was also started on hourly fortified gentamicin and cefazolin eyedrops. In view of the absence of perception of light, as well as her systemic status, vitrectomy was not resorted to. There was also no immediate indication for evisceration.\nThe patient's vitreous cultures came back positive for Elizabethkingia meningoseptica, which was sensitive to ciprofloxacin, levofloxacin, cotrimoxazole, and minocycline, but resistant to ceftazidine, gentamicin and amikacin. In consideration of the sensitivity results, the intravitreal antibiotics were switched to ciprofloxacin (100 micrograms/0.05 ml). The injection was repeated five times before it was felt that the infection was under reasonable control. The fibrin clot in her anterior chamber progressively resolved and the inflammatory material in the vitreous cavity became organised. The eye was quiet with no pain. While vision was not expected to recover, the need for evisceration was successfully averted.\nPotential environmental source links were investigated. Workflows for ward staff were reviewed. Environmental screening was performed by swab cultures of surfaces and equipment within patient rooms, taps and aerators, water sampling and sampling of chlorhexidine solution. While no clear source of the bacteria was identified, it was presumably from aerators and hand hygiene sinks, as was found in a previous investigation of the same bacteria in the hospital.",
"gender": "Female"
}
] |
PMC4322812
|
[
{
"age": 29,
"case_id": "PMC9922053_01",
"case_text": "A 29-year-old Caucasian female patient presented to the surgery out-patient clinic requesting for foreign body removal. The patient was diagnosed with EDS and MCAS when she was a child. During her lifetime, the patient has suffered from endless anaphylactic reactions due to immunological hypersensitivity of MCAS. According to the patient, her clinical symptoms include nausea, vomiting, constipation, intestinal swelling, migraines, facial edema, hives, acne, fatigue, bloating, fever, chills, night sweats, and acute pulmonary inflammatory reactions. The patient stated that she has had subclinical symptoms of MCAS since childhood that became more problematic when she reached puberty. The patient's past medical history is remarkable for EDS, MCAS, postural orthostatic hypotension, mitral valve regurgitation, tricuspid valve regurgitation, atrial fibrillation, brain fenestration (frontal lobe), pineal gland cyst, migraines, cystinuria, hypothyroidism, anemia, hypokalemia, vitamin B-12 deficiency, menorrhagia, celiac disease, osteopenia in the right hip, bowel hypomotility, post-traumatic stress disorder (PTSD), mild urinary bladder prolapse, and MCAS-induced asthma. The patient's past surgical history includes tonsillectomy, lithotripsy, plica shelf removal of right knee, medial patella-femoral ligament (MPFL) reconstruction and lateral patella-femoral ligament (LPFL) reconstruction cadaver graft and stabilization of right knee, peroneal tendon cadaver graft and deltoid debridement of left ankle, peroneal tendon cadaver graft of right ankle, hardware removal and replacement of right ankle, labrum repair of right hip, labrum hardware removal of right hip, 360 degree labrum repair of right shoulder, hardware repair and replacement of right shoulder, 360 degree labrum repair of left shoulder, cholecystectomy, and gallbladder clip removal.\nAccording to the patient, allergies include plastic and synthetic surgical materials, latex, plastic medical tape, soy, lecithin, gluten, wheat dextrin and wheat derived maltodextrin, seafood, mold, nickel, butter, sea salt, beef, tomatoes, watermelon, kiwis, banana, yellow #5, eggs, cheese, and phytoestrogens. She also reports hypersensitivity reactions to the flu vaccine, amoxicillin, Augmentin, Bactrim, Betadine, Bystolic, Cefaclor, Corlanor/ivabradine, duloxetine, gabapentin, iodine, ketotifen fumarate, Marcaine HCl/bupivacaine, methylprednisolone, midodrine, Motegrity, Norco, propranolol, pyridostigmine bromide, ranitidine, and tramadol. Currently, the patient's medications include acetaminophen/butalbital, Allegra-D, Ativan, Benadryl, Bisoprolol, buffered salt tablets, calamine, cromolyn sodium, desonide cream, topical drysol, Epi-pen, Errin, fludrocortisone, glucose tabs, Linzess, loratadine, montelukast, mupirocin, naproxen, olopatadine, Pennsaid, Pepcid, Percocet, Plaquenil, potassium chloride, quercetin, Robaxin, triamcinolone cream, Ubrelvy, IM B12, Xolair injections, Xyzal, Zofran, Zyrtec, and toradol injections. Family medical history includes maternal EDS. She has no history of smoking or alcohol use. \nDue to the pathological progression of EDS, the patient underwent multiple orthopedic procedures for her hip, knee, shoulders, and ankles. After the procedures, she started having worsening symptoms such as increased joint pain and facial swelling. After looking through the patient's past medical and surgical history, her immunologist concluded that the aggravation of symptoms was strongly associated with medical implants placed during the procedures that triggered mast cells to initiate an immune response. The patient was advised to remove the foreign bodies which were implanted. This report highlights the removal of three Weck clips that were placed during her cholecystectomy. \nOn the day of the operation, she was taken to the operating room, and prepped under general anesthesia. At this time, pneumoperitoneum was obtained periumbilically, and the abdomen was explored. Epigastric, midepigastric, and right mid quadrant ports were placed percutaneously under direct vision. During the procedure, fluoroscopy was utilized and there was no evidence of metal clips in the right upper quadrant. Next, the gallbladder fossa was examined where three separate Weck clips were found. Two clips were located on the cystic duct and one on the cystic artery. All clips were removed and sent to pathology (Figure 1). No bleeding or bile spill was encountered. The patient tolerated the procedure well and was taken to the recovery room in stable condition. A few hours after the procedure, the patient was discharged without any postoperative complications. After one week, the patient returned to the out-patient clinic for a follow-up and stated that she had felt great relief of her hypersensitivity reactions since the procedure.",
"gender": "Female"
}
] |
PMC9922053
|
[
{
"age": 13,
"case_id": "PMC8645473_01",
"case_text": "A 13-year-old boy, previously assisted by an external team, presented with a hemorrhagic stroke secondary to an AVM rupture in 2013. A 2013 angiography revealed a left occipital lobe AVM, fed by the calcarine and the posterior inferior temporal artery branches, with superficial venous drainage through the medial occipital vein into the posterior third of the superior sagittal sinus, and deep drainage through the occipital vein into the vein of Galen, thus classifying it as a Spetzler-Martin grade III AVM [Figure 1].\nThe patient underwent partial resection of the malformation in 2014. We complemented the treatment with embolization in August 2017, with the intraluminal permanence of the endovenous catheter evolving as a complication after gluing to the vein. We performed cervicotomy to remove the catheter but could not remove the intracranial part. The patient was subsequently diagnosed with a brain abscess (2018) after a physical examination revealed purulent exudate through the cervical surgical wound. He presented neurologically with contralateral homonymous hemianopsia, without any other symptoms.\nThe patient was admitted to our hospital in February 2019. He was reinvestigated using cerebral angiography, which demonstrated residual AVM with the embolization material and the presence of an endovenous catheter in the posterior third of the superior sagittal sinus up to the right jugular vein [Figure 2]. He also underwent magnetic resonance imaging (MRI) in May 2019 (T1-weighted with gadolinium and T2). We observed the presence of an intra-axial, rounded lesion, with well-defined edges, heterogeneous at the expense of a hyperintense halo with a hypointense center in T2, located in the convexity of the left pre-cuneus, surrounded by significant perilesional edema. The lesion showed significant ring enhancement with the passage of the contrast medium [Figure 3].\nThereafter, he underwent microsurgery, with reopening of planes, complete resection of the AVM transulcal route, removal of residual granuloma.\nThe catheter remained in the posterior third of the superior sagittal sinus extending up to the cervical region of the right jugular vein. Antibiotics were administered (linezolid and ceftriaxone) in the postoperative period and the patient started to show a good response, without new febrile episodes.\nIn February 2020, the patient presented with thrombosis of the right jugular vein and purulent exudate through the cervical wound. We started anticoagulation therapy with warfarin and performed a right cervicotomy. We opened the jugular vein to remove the catheter and subsequently ligated the vein [Figure 4].\nThe patient is currently asymptomatic, without neurological deficits or new febrile episodes. Postoperative MRI scans of the brain showed expected changes without the presence of residual lesions, including edema in the surgical location. Cerebral angiography revealed the absence of residual AVMs [Figure 5].\n[Table 1] lists the main variables that were analysed. There were seven cases of abscesses resulting from endovascular procedures for AVM [Table 1]. The symptoms for AVM diagnosis mainly were: headache, nausea, hemiparesis, and seizures. All the patients underwent embolization, most often with N-butyl-cyanoacrylate. The most frequently detected microorganism in culture was Escherichia coli.",
"gender": "Male"
}
] |
PMC8645473
|
[
{
"age": 32,
"case_id": "PMC3881385_01",
"case_text": "A 32-year-old female patient reported for the filling of her lower 1st molar. On clinical examination tooth number 36 was root canal treated one month back (Figure 1). It was asymptomatic and the occlusogingival height of the remaining crown structure was approximately 4 mm. The radiographic findings revealed well obturated canals with no periapical changes.\nA conservative approach of restoring the tooth with an endocrown was decided as the treatment option, as more than half the residual tooth structure was remaining and there were no occlusal wear facets. On additional request by the patient for an advanced and a prompt restoration, CAD/CAM ceramic was chosen.\nAfter removal of the provisional restoration, preparation for endocrown was initiated. Resin modified glass ionomer cement (Fuji II LC GC Corporation, Tokyo, Japan) was used to achieve a flat pulpal floor and to block the undercuts. The preparation consisted of a circular equigingival butt-joint margin and central retention cavity into the entire pulp chamber constructing both the crown and the core as a single unit. The appropriate reduction of the buccal and lingual walls was done (Figure 2).\nInterocclusal space was carefully evaluated and occlusal reduction done to achieve a clearance of 2 mm. Shade-B1 was selected (VITAPAN Zahnfabrik, Germany). Retraction cord was placed and impressions made with polyvinyl siloxane impression material (Aquasil LV, Putty/Light Body, Dentsply DeTrey, Germany) using putty wash technique. Die stone model was fabricated.\n CAD/CAM Processing. The three-dimensional reconstruction of the preparation was done using the Yenadent D40 milling machine (Yenadent, Istanbul, Turkey) and DWOS scanner (Dental Wings Inc., Montreal, Canada). The 3D scanning of the individual die and the antagonist arch for occlusal function (virtual articulation) were done. The milling was then initiated on a monolithic solid zirconia block (Metoxit AG, Thayngen, Switzerland) (Figures 3 and 4).\nThe finished endocrown was checked for shade, fit, and occlusion in the patient's mouth and then cemented using dual cure resin luting agent (Variolink, Ivoclar/Vivadent, Schaan/Liechtenstein).\nClinical and radiographic evaluation was done and follow up after 28 months showed no secondary caries, fracture, discoloration or loosening/decementation of the crown (Figures 5 and 6).",
"gender": "Female"
},
{
"age": 26,
"case_id": "PMC3881385_02",
"case_text": "A 26-year-old female patient reported with a chief complaint of pain since 2 days. On radiographic examination radiolucency involving pulp of tooth 36 was seen. Based on the clinical and radiographic examination tooth 36 was diagnosed with acute irreversible pulpitis. Root canal treatment was performed. Based on the remaining tooth structure, that is, approximately 4-5 mm, occlusal evaluation, and patients esthetic demands, IPS E.max Press endocrown was decided as the treatment option. The endocrown preparation and the impression technique were performed as described in the previous case. IPS E.max Press HO Lithium-disilicate glass ceramic ingots (Ivoclar/Vivadent, Schaan/Liechtenstein) were used for the press technology. The restoration was fabricated according to the lost wax technique of investing and wax pattern burnout followed by pressing of the ceramic ingot in the pressable furnace at a press temperature of 915-920 C. It was then finished and polished with Proxyt pink polishing paste (Ivoclar/Vivadent, Schaan/Liechtenstein). The endocrown was cemented using a dual cure resin luting agent (Variolink, Ivoclar/Vivadent, Schaan/Liechtenstein). Clinical and radiographic evaluation was done and a 28-month followup showed no secondary caries, fracture, discoloration or loosening/decementation of the crown (Figures 7, 8, 9, 10, 11, and 12).",
"gender": "Female"
}
] |
PMC3881385
|
[
{
"age": 29,
"case_id": "PMC10328728_01",
"case_text": "The patient is a 29-year-old woman, referred to our Hepato-Bilio-Pancreatic and Splenic Unit, with a history of continuous abdominal pain in the right upper quadrants with periods of sharpening, abdominal distension, perception of a mass in the right inferior quadrant, and constipation, for the last 3 months.\nShe had a past history of polycystic ovary syndrome and gastritis. The patient had no children, had menarche at 14 years with regular menstrual cycles and had a history of oral contraceptive intake for 13 years. She had no history of hepatic disease, diabetes, hypertension, or dyslipidemia, and denied smoking or recreational drug usage. Presented an IMC of 16 kg/m2.\nHer regular medication was chlordiazepoxide + clidinium bromide and the oral contraceptive estradiol valerate 1-3 mg + dienogest 2-3 mg for the last 5 years.\nAn abdominal ultrasound showed the presence of a solid nodular lesion with origin in the right hepatic lobe. A computerized tomography scan confirmed the presence of a solid pediculate nodular lesion in segment 5. An MRI with administration of paramagnetic hepatospecific contrast product, showed an exophytic nodular lesion with 56 mm x 83 mm heterogeneous signal in the different weightings, heterogeneously capturing the contrast product in a mainly peripheral way, maintaining areas of central hyposignal probably with a more fibrosis/hyalinization component (Figure 1), in an otherwise normal liver.\nLiver function tests were normal, with a slight increase in total bilirubin (BT 2.05 mg/dl). Other parameters, including leukocytes, hemoglobin, platelet counts, and renal function tests, were normal. Serum tumor markers (alphafeto-protein, CEA, and CA19-9) were normal. Serum virus markers (HBV, HCV, and HIV) were negative.\nThe case was discussed in our Hepato-Bilio-Pancreatic Multidisciplinary Tumor Board and it was decided surgical resection was appropriate.\nA laparoscopic approach showed a pedunculated hepatic lesion arising from segment 5, not adherent to adjacent structures, without ascites, with no evidence of peritoneal carcinomatosis, or other hepatic lesions confirmed by an intraoperatively ultrasound. The resection was carried out, and the patient was discharged at day 2.\nThe surgical specimen revealed a well-defined tumor with 7.9 cm in largest dimension (Figure 2). On the cut surface the tumor had a central fibronecrotic core and two distinct peripheral areas were apparent. The surgical margin had no neoplasia. The tumor was confined to the liver parenchyma without invasion of the hepatic capsule (Figures 3 and 4).\nHistological examination showed a hepatocellular tumor with a peripheral area with a predominant trabecular pattern with steatosis, cholestasis, and fibrovascular septa with a lymphocytic inflammatory infiltrate (Figure 5). In the central area, there were foci of atypical cells and necrosis (Figure 6). There was no vascular or perineural invasion.\nImmunohistochemical study showed expression of HEP-PAR-1, liver fatty acid-binding protein (LFABP), C-reactive protein (CRP), and glutamine synthetase (GS) in the neoplastic cells (Table 1) The beta-catenin expression was membranous only (Figure 7). The tumoral cells had no expression of glypican-3 (GPC-3) and heat-shock protein 70 (HSP-70) (Table 1).\nThis tumor was diagnosed as a well-differentiated hepatocellular neoplasm with morphologic characteristics of an inflammatory adenoma, probably with a beta-catenin mutation (the diffuse, but heterogeneous expression of GS and nuclear negativity for beta-catenin pointed to mutation in the exon 3 S45) with a central area with atypia, absence of biliary ducts, loss of reticulin fibers, and sinusoidal capillarization (Figures 6 and 7).\nInvestigation for mutations in the CTNNB1 gene (NM_001904.3; beta-catenin, the entire coding sequence including exon-intron transitions), was made through the polymerase chain reaction (PCR) technique, with direct sequencing of PCR products obtained from tumoral DNA. However, no mutations were found.",
"gender": "Female"
}
] |
PMC10328728
|
[
{
"age": 58,
"case_id": "PMC6417323_01",
"case_text": "A 58-year-old female with a history of chronic rheumatic heart disease and atrial fibrillation was admitted for cranioplasty. She previously underwent a decompressive craniectomy for the management of her massive right middle and anterior cerebral artery infarction 6 months before. The ischemic stroke rendered the patient severely disabled with left hemiplegia and hemisensory loss. The patient also experienced chronic headache and nonspecific dull aching pain over the left side of the body that required gabapentin for partial relief. There was a large right fronto-parietal-temporal scalp concavity coinciding with a craniectomy skull defect of 25 cm x 20 cm [Figure 1a-c].\nCranioplasty using the patient's autologous bone flap was performed uneventfully and there was no intraoperative breach of the dura. Blood loss was 150 ml and the operation lasted for 100 minutes. During scalp wound closure, a single subgaleal suction drain was placed with vacuum applied as a routine measure. The drain was a negative pressure closed system with an inner diameter of 3.33 mm (Fr 10) and according to the manufacturer supplied medical device specifications, exerted a negative pressure 75 mmHg (10kPa). Within 1 hour after extubation the patient developed status epilepticus with bilateral eye deviation to the left. Pupil size was 3 mm bilaterally and reactive to light. There was fast atrial fibrillation (160 beats/min) and hypotension of 85/40 mmHg. At that juncture, the subgaleal drain output was <20 ml. The patient was mechanically ventilated and her seizures were controlled after administrating intravenous midazolam and phenytoin. A computed tomography (CT) brain scan showed an interhemispheric acute subdural hematoma, intraventricular hemorrhage within the left occipital horn of the lateral ventricle with obliteration of the quadrigeminal and superior cerebellar cisterns. There was also upward displacement of the vermis at the level of the incisura and flattening of the posterior third ventricle [Figure 1d-f]. The patient was diagnosed with ATH and the subgaleal drain was immediately removed. She was sedated for 24 hours and a CT brain performed the next day showed resolution of the ATH [Figure 1g, h]. The patient eventually recovered to her preoperative functional performance level with no further headaches and resolution of her limb numbness. There were no seizures and her phenytoin was weaned off a month after the cranioplasty.",
"gender": "Female"
}
] |
PMC6417323
|
[
{
"age": 40,
"case_id": "PMC5803942_01",
"case_text": "A 40-year-old man presented with progressive flaccidity of skin, mainly on his face, neck, and trunk since two years. He gave a history of developing anasarca, breathlessness, anemia, and fatigue 1 year back. At the time of presentation to our institute, he had bilateral pedal edema with pallor and prematurely aged appearance. There was no family history of cutis laxa. He was diagnosed with hypertension 2 months back, and had a history of heavy drinking and smoking for the past 20 years, which he stopped 2 months back. Cutaneous examination revealed loose hanging ear lobes, blepharochalasis, lax nasolabial folds, and increased folds over the neck, axilla, and trunk [Figures 1-3].\nFurther investigations revealed nephrotic range proteinuria (24-hour urine protein - 9.1 g), hematuria, raised urine beta2 microglobulin levels, presence of urine Bence-Jones proteins, raised levels of blood urea (98 mg%) and serum creatinine (1.61 mg%), reduced total protein (4.8 gm/dl) and albumin (2.3 gm/dl), low hemoglobin (7.7 g/dl), normal calcium, high LDH, and uric acid levels. Serum electrophoresis revealed \"M-band\" - 0.3 g% in gamma region. Immunofixation electrophoresis showed IgG-kappa, with elevation of free kappa, normal lambda chain levels (kappa = 100 mg/L, lambda = 24 mg/L), and raised kappa/lambda ratio of 4.2. Bone marrow examination revealed 9% plasma cells with occasional immature forms. Radiological evaluation was negative for lytic lesions. Two-dimensional echo showed a large pericardial effusion with no valvular prolapse. Ultrasonography of the abdomen pelvis was normal. Renal biopsy showed nodular glomerulosclerosis with positive staining on immunohistochemistry for monoclonal kappa and IgG. Skin biopsy showed markedly reduced elastic fibers [Figures 4 and 5]. Staining for amyloid in both renal and skin biopsy was negative.\nBased on the above investigations, he was diagnosed to have ACL with LHCDD.\nHe was started on chemotherapy with Cy-BorD protocol (weekly doses of inj. dexamethasone 20 mg, tab. cyclophosphamide 300 mg/m2, inj bortezomib 2 mg). He was suggested facelift surgery, but he did not consent for the same.\nDuring the 6th cycle of therapy, he showed significant improvement clinically as well as in laboratory parameters with an elevation in Hb (8.9 g%), total protein (6.9 g/dL), albumin (4.4 g/dL), and reduction in serum creatinine (1.25 mg%), blood urea (92 mg%), 24-hour urine protein (2.5 gm), and urine Bence-Jones proteins were negative. Serum electrophoresis showed faint band in gamma region. Immunofixation electrophoresis showed IgG kappa - end of gamma. Unfortunately, we lost the patient to follow-up after the 6th cycle.",
"gender": "Male"
}
] |
PMC5803942
|
[
{
"age": null,
"case_id": "PMC6166281_01",
"case_text": "At referral, the patient weighed 111 k (kg), and had a body mass index (BMI) of 41. A medical examination showed no organic illnesses or dysfunctions which could contraindicate surgery.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC6166281_02",
"case_text": "After the patient was accepted as a candidate for BS, she lost 8% of her excess weight by traditional dieting, in line with the local pre-surgical requirements, before a sleeve gastrectomy procedure was performed. At the time of surgery, the patient weighed 101 kg and had a BMI of 37. The pre-surgical weight loss, as well as the surgery and recovery period, had proceeded without medical or behavioural complications. At the 18 months follow-up, the weight-loss was 27 kg, corresponding to a new BMI of 31, and as a result the surgery and outcome could be deemed satisfactory.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC6166281_03",
"case_text": "The pre-surgical psychosocial assessment had revealed a severe history of both AN and BED. AN was of the restrictive type, with onset at age 16, minimum weight 45 kg and BMI 16.5. At age 18, the eating disorder migrated to BED, and the BMI rose accordingly, with the maximum weight being 110 kg and a BMI of 41. The patient was characterised by a high degree of body dissatisfaction, which had been present since childhood. As a consequence, the patient avoided scales as well as mirrors and public display. The patient reported she still had eating binges, but the frequency was low, with the most recent episode occurring three months prior to the psychosocial assessment interview. Within the past four years, she had not met the full diagnostic criteria for BED. Her existing eating binges were provoked when experiencing difficulty with emotion regulation, for example after a quarrel with her partner. Alongside the eating disorder symptoms, the patient suffered from depression. The symptoms were active at referral to BS but the patient was in treatment with antidepressants, which was described as helpful. Although the clinical impression was of depression in remission, the patient scored 36 on the Beck Depression Inventory (BDI-ii), corresponding to severe depression. Family history revealed serious parental neglect, and childhood memories were considered \"painful\", and as roots to the depressive inclination. Binge eating was described as something that could provide a feeling of security and comfort in a world of pain and chaos. Her current life situation was assessed as stable: the patient lived with her partner, with whom she planned to raise a family. The partner was characterised as a person who offered emotional support and had helped the patient gain healthier eating habits. The psychosocial assessment evaluated the patient as 'at risk' and in need for close monitoring, but did not recommend rejection of surgery. In addition, the pre-surgical psychosocial assessment concluded that since the patient was socially withdrawn and seemed very dependent on her partner, the continuation of the relationship was essential for a satisfactory surgery outcome. This vulnerable impression was supported by the following measures: the Experience in Close Relationships (ECR-r) questionnaire showing an anxious-avoidant attachment pattern; the Difficulty with Emotion Regulation Scale (DERS) which placed her at the 80th percentile (when using a median cut within the GO bypass study sample), and an alarming amount of psychiatric symptoms, measured with SCL-90-R. See Table 1 for psychometric test-results.",
"gender": "Female"
}
] |
PMC6166281
|
[
{
"age": 41,
"case_id": "PMC7531809_01",
"case_text": "We report the case of a 41-year-old with no relevant underlying medical conditions who was admitted to our hospital on June 15 due to a 10-day history of gait ataxia, dizziness, headache, and vomiting. On admission, he was screened for COVID-19 as a standard procedure for hospitalized patients (BD MAX System: negative SARS-CoV-2 RT-PCR). Thorough diagnostic workup raised the suspicion of a secondary demyelinating disease, and the patient was started on high-dose steroids (methylprednisolone 1 g/day for 3 days followed by prednisolone 1 mg/Kg/day) (Fig. 1).\nOn June 21, a patient who had been admitted for a bilateral pneumonia (with two negative tests for SARS-CoV-2) and was sharing the same room was intubated as an emergency in the context of a cardiopulmonary arrest, with a subsequent post-mortem nasopharyngeal and oropharyngeal swab revealing SARS-CoV-2 RNA. Hence, our patient collected a swab on the 23rd of June as screening, which proved to be positive (QuantStudio 7 Flex RT PCR system: N1 Ct 35.8, N2 Ct 37.3, RP Ct 29). He was moved to a COVID-19 isolation area, and during his hospital stay reported no fever, respiratory, or gastrointestinal symptoms. He subsequently presented two negative SARS-CoV-2 tests on June 29 and 30 (Aptima SARS-CoV-2 assay, which uses target capture and transcription-mediated amplification), so he was considered cured from asymptomatic COVID-19. He was discharged on July 3 on prednisolone 80 mg/day. While at home (July 6), he had chest computed tomography (CT), which had been ordered to exclude signs of sarcoidosis as part of the secondary demyelinating disease workup and which revealed a peripheral ground-glass opacity compatible with early COVID-19 (Fig. 2).\nOn July 9, he represented with fever, headache, myalgias, and cough, and on July 13, he was tested as an outpatient for SARS-CoV-2 with a positive result. His family (mother, father, and wife) also developed respiratory symptoms and all tested positive for SARS-CoV-2. Importantly, they were shielding and reported no other risk contact besides the one with our patient.\nOn July 15, he was admitted to our hospital, reporting worsening of the symptoms, with dyspnea and thoracalgia. On admission, he was tachypneic and presented with severe respiratory failure, rapidly requiring intubation and transfer to our intensive care unit (ICU). Chest CT showed diffuse bilateral ground-glass opacification and extensive subpleural consolidation of the lower lobes (Fig. 3), and SARS-CoV-2 swab was positive (Xpert Xpress SARS-CoV-2: E Ct 15.9; N2 Ct 17.8; SPC Ct 0.0). Serologic tests were performed on July 16 (negative IgM and IgG) and on July 20 (positive IgG (8.00 UA/mL); positive IgA (9.18 ICO); negative IgM (4.5 UA/mL)). The patient clinically improved on methylprednisolone 80 mg/day (for 7 days followed by tapering), piperacillin/tazobactam, and remdesivir and was extubated after 7 days. At the time of the writing of this report, he has been discharged from the ICU and is progressing favorably in the COVID ward.",
"gender": "Male"
}
] |
PMC7531809
|
[
{
"age": 24,
"case_id": "PMC2796233_01",
"case_text": "A 24-year-old previously healthy woman fell from standing height directly on her left elbow and sustained an isolated comminuted olecranon fracture with axial impaction and depression of the articular joint surface (Figure 1(a)). The radial head was intact. She was treated in an outside hospital with a figure-of-eight tension band construct despite the presence of intraarticular comminution. Intraoperative views with an image intensifier reveal marginal reduction of the fragments and incongruency of the ulnohumeral joint (Figure 1(b)). She was immobilized in a cast for 10 days and was not allowed passive nor active range of motion exercises. Ten days after the injury the patient was evaluated for routine postoperative follow-up. Radiographic evaluation at that time revealed ulnar shortening and poor ulnohumeral congruency. After 13 weeks she underwent a second procedure for removal of prominent hardware.\nFive months after the injury, the patient presented to the senior author with a poor functional result. She had 65 degrees of ulnohumeral motion with 90 degrees of flexion and a 25 flexion contracture with full forearm rotation. She had a stable elbow with pain in active and passive range of motion. Computed tomographic evaluation revealed depression of the articular surface of the trochlear notch and shortening of the proximal ulna. She had an incongruent ulnohumeral joint leading to impingement and loss of function. The articular surfaces of the radiocapitellar joint remained opposed (Figure 2). \nAn osteotomy was planned to restore congruency of the trochlear notch to achieve a functional arc of motion. After induction of general anesthesia, the patient was placed in lateral decubitus and the left arm was placed over a bolster. A midline posterior incision was used to expose the proximal ulna. An osteotomy was performed at the level of the depressed articular surface to mobilize and elevate the depressed fragments in an attempt to realign the articular surfaces of the ulnohumeral joint. Reduction of the malunited intra-articular fragments was not possible because the fracture fragments were sclerotic. Shortening of the olecranon due to axial impaction:which was worsened by the tension-band construct:prohibited good alignment. An iliac-crest bone graft, 6 mm by 15 mm in size, was interposed to widen and reconstruct the trochlear notch. After lengthening of the proximal olecranon, the humerus could be easily reduced to restore ulnohumeral congruency. Stable fixation was achieved with 2 lag screws secured with a 4-hole LCP plate (Figure 3). It was noted that the posterior capsule was contracted. However, at this point it was chosen not to perform a posterior capsular release to preserve the surrounding soft tissues of the olecranon tip to protect vascular blood supply. Postoperatively, the patient was immobilized in a long arm cast and continuous passive motion was initiated 24 hours after surgery and therapy was started. Careful active motion also began immediately under the supervision of a physical therapist.\nOne year after the index surgery, the patient had a functional arc of motion. She had 95 degrees of ulnohumeral motion with 115 degrees of flexion and a flexion contracture of 20 degrees. Her elbow was rendered stable and she has no pain. Posterior contracture release was performed at this point combined with hardware removal. Postoperative radiographs suggested posterior impingement of the olecranon tip hindering extension. This was not found on Intraoperative passive range of motion.\nTwo years after the index surgery, and one year after removal of hardware and contracture release, she had a functional elbow with 105 degrees of ulnohumeral motion (115 degrees of flexion and a 10-degree flexion contracture), 87 points according to American Shoulder and Elbow Surgeon evaluation and 7 points on the Disability of Arm Shoulder and Hand score (see Figure 4).",
"gender": "Female"
}
] |
PMC2796233
|
[
{
"age": 56,
"case_id": "PMC5220406_01",
"case_text": "A 56-year-old male with history of AF, status after ablation, eight years ago at an outside hospital, presented with recurrent AF. Five years after his initial ablation, the patient developed symptomatic palpitations due to atrial fibrillation and he was prescribed flecainide and metoprolol. Despite antiarrhythmic therapy, the patient continued to have symptomatic atrial fibrillation with palpitations but no shortness of breath. The patient was taken for AF ablation. The preablation echocardiogram demonstrated normal ventricular function and pulmonary pressures. The preprocedural computed tomography (CT) scan along with the three-dimensional (3D) reconstruction was done on the procedural table prior to the transeptal puncture but did not pick up the pulmonary vein stenosis. Pulmonary vein potential mapping noted that there was a potential at the ostium of the left superior pulmonary vein. There was also difficulty advancing the catheter into the left superior pulmonary vein due to a possible obstruction. Direct angiography of the left superior pulmonary vein (LSPV) confirmed complete PV stenosis. The procedure was aborted in lieu of further diagnostic work up. A higher resolution cardiac CT angiogram (Figure 1(a)) and left atrium 3D reconstruction (Figure 1(b)) was used to confirm subtotal occlusion of the left superior pulmonary venous trunk. A lung perfusion scan revealed significantly decreased left upper lung perfusion (Figure 2) with the left lung contributing approximately 18% of the lung function and the right lung contributing 82% of the total lung function. A levophase angiogram of the right middle lobe pulmonary arterial system demonstrated venous return confined to the area of the lung supplied by the arterial vasculature. The levophase pulmonary angiogram demonstrated well developed collateral circulation from the left upper lobe to the mid segment of the left lung (Figures 3(a) and 3(b), resp.). After cardiac workup, it was concluded that this pulmonary vein stenosis is chronically totally occluded and less amenable to percutaneous intervention for reestablishment of flow. Ultimately, the decision to intervene to relieve the stenosis and to repeat AF ablation on the remaining pulmonary veins was left to the patient. The patient initially opted for continuance of antiarrhythmic drug therapy. However, due to persistence of breakthrough atrial fibrillation despite antiarrhythmic therapy, the patient ultimately underwent repeat atrial fibrillation ablation procedure two years after his initial presentation to our institution.",
"gender": "Male"
}
] |
PMC5220406
|
[
{
"age": 23,
"case_id": "PMC2836895_01",
"case_text": "A 23-year-old woman with a 4-month history of doxycycline treatment and a subsequent 3-month history of minocycline treatment for acne developed tinnitus, vomiting, phonophobia, and photophobia along with severe headaches and progressive horizontal binocular diplopia. She was otherwise healthy and took no other medications.Visual acuity was 20/15 in the right eye and 20/20 in the left eye with a left relative afferent pupillary defect.Humphrey visual fields revealed a triangular scotoma in her left eye (Figure 1). \nSevere bilateral papilledema was present, greater on the left than the right. Lumbar puncture demonstrated an opening pressure of 41 cm H2O with normal cerebrospinal fluid. Minocycline use was discontinued. Head CT and contrast-enhanced MRI were both normal and an MRV showed no venous thrombosis or stasis. The patient's symptoms of diplopia improved 3 weeks later, but papilledema and headache persisted with worsening of visual fields. Repeat MRV was normal. The intracranial pressure remained elevated at 33 cm H2O despite treatment with 2 g acetazolamide/day. Ventriculoperitoneal shunting was performed for intracranial pressure control.",
"gender": "Female"
},
{
"age": 15,
"case_id": "PMC2836895_02",
"case_text": "A 15-year-old girl with a 6-week history of minocycline treatment for acne vulgaris developed progressive bifrontal headache with pain around the right eye, vertical binocular diplopia, nausea, neck pain, and muscle spasm. Visual acuity was 20/20-2 in the right eye and 20/15-1 in the left eye. Threshold visual fields revealed enlarged blind spots in both eyes, but otherwise normal findings. Dilated ophthalmoscopy disclosed florid papilledema in both eyes with peripapillary hemorrhages and choroidal folds (Figure 2). Head CT and enhanced MRI were both normal, and an MRV showed no evidence of venous thrombosis. The opening pressure was 55 cm H2O with normal CSF formula. Minocycline was discontinued. Acetazolamide treatment was prescribed, then discontinued 5 months later after resolution of the papilledema, headaches, visual field defects, and diplopia.",
"gender": "Female"
}
] |
PMC2836895
|
[
{
"age": 37,
"case_id": "PMC5282427_01",
"case_text": "A 37-year-old woman sought neurological assistance after an episode of TIA manifesting predominantly as left hemiparesis of 5-minute duration. At that time, she had no abnormalities on examination of the cranial nerves, and brain computed tomography (CT) scan findings were normal. She was referred to a cardiologist to be evaluated for TIA. The physical examination and routine blood laboratory investigations results were normal. Her past medical history showed hypertension (HTN) and hyperlipidemia (HLP) which both were under control. During further clinical assessments, transesophageal echocardiography (TEE) was performed, which revealed an echogenic, round, and mobile mass measuring 5 x 5 mm in diameter attached by a short pedicle on the atrial surface of the anterior mitral valve leaflet (Figure 1). There was mild to moderate regurgitation of the mitral valve. The other valves and cardiac structures were normal. Left ventricular ejection fraction (EF) was 60%. The patient was given anticoagulant therapy and referred for surgery with clinical suspicion of a papillary fibroblastoma or other primary cardiac tumors. At operation, after a median sternotomy, cardiopulmonary bypass via aortobicaval cannulation was established. An incision was made in the left atrium, and a soft, firm, and friable mass was founded on the atrial surface of the anterior leaflet of the mitral valve which was easily removed (Figure 2). The anterior leaflet was repaired with an autologous pericardium patch. The patient was warmed and weaned from cardiopulmonary without difficulty.\nHistopathological evaluation of the resected tumor showed a dense calcification (shredded due to no decalcification) in a background of amorphous degenerating fibrinous material (Figure 3) and according to the clinical and histological features, a diagnosis of cardiac CAT was provided. The postoperative course was uneventful, and the patient was discharged from the hospital 4 days after the surgery without any complications.",
"gender": "Female"
}
] |
PMC5282427
|
[
{
"age": 48,
"case_id": "PMC3442446_01",
"case_text": "A 48-year-old woman was referred to the Department of Oral Medicine, Faculty of Dentistry, Tabriz University of Medical Sciences, for diagnosis and management of a non-painful oral ulceration which had been present for the past six months. The past medical history revealed a diagnosis of RA established five years before, and prednisolone 2.5 mg/d, azathioprine, and methotrexate medications since then. \n Intraorally, along the occlusal line on the buccal mucosa of the left side, there was an ulcerated area measuring approximately 3x3 cm, the margins of which were hyperkeratotic and irregular in outline and the base was covered with a pale yellow-colored slough. The clinical appearance of the intraoral ulcer was more typical of squamous cell carcinoma or a traumatic ulcer because of the lesion's presence on the line of occlusion (Figure 1). \n Under local anesthesia, an elliptical incisional biopsy was taken from the lesion, which included part of the ulcer and normal mucosa. The biopsy specimen was fixed in 10% formalin for conventional histologic examination. Light microscopic examination of sections stained with hematoxylin and eosin showed hyperplastic squamous epithelium and suprabasal bullae with acantholytic cells. There was moderate chronic inflammation in the stroma. Based on these results, a diagnosis of pemphigus was established. Regarding the pathologic diagnosis, the patient was examined for Nikolsky's sign, which proved negative (Figure 2). \n In order to confirm histopathologic diagnosis, the patient was examined for Direct Immunoflurocent (DIF) and Indirect Immunoflurocent (IIF). A biopsy specimen that was obtained from clinically normal appearing peri-lesional mucosa was placed in normal saline solution and was sent for immunofluorescence evaluation for in vivo deposits of IgG, IgM, IgA, IgD, IgE, and complement components of C3 and C4. The patient's serum was examined by a routine indirect immunofluorescence technique for autoantibodies such as anti-epithelial intercellular and basement membrane antibodies. The findings of DIF and IIF were negative. \n The patient in the present case report was scheduled a recall visit after three months, at which the clinical examination did not reveal any changes in the lesion size with no involvement of new locations in the oral mucosa. In addition, no skin involvement was observed and Nikolsky's sign was negative. Another recall visit was scheduled for the next three months. The patient was asked to return to the clinic before the 3-month follow-up period in case of any oral ulcer or blisters. \n In case of the absence of any signs or changes in the variables mentioned above further recall visit will be scheduled for the next 6-month and 1-year periods. The patient has been instructed to pay a recall visit whenever new oral mucous membrane or skill lesions appear, regardless of the visits scheduled for her.",
"gender": "Female"
}
] |
PMC3442446
|
[
{
"age": 45,
"case_id": "PMC5320816_01",
"case_text": "A 45-year-old male patient presented with a history of intermittent claudication pain for the last 3 months and blackish discoloration of the right toe for 15 days. The patient is a known case of peripheral arterial disease, previously underwent right transfemoral iliac angioplasty with femoropopliteal bypass 1 year ago for similar complaints. He is also a smoker and diabetic, no family history of ischemic heart disease and peripheral vascular disease. Coronary angiogram revealed normal coronaries. On examination, blackish discoloration of the right middle toe, absent pulse in bilateral lower limbs. Computed tomography (CT) peripheral angiogram was revealed diffuse internal thickening with wall calcification noted in aorta causing 40% diameter stenosis, right common iliac artery (CIA) in-stent restenosis of 90% at proximal and distal edges of the stent [Figure 1a], right femoropopliteal graft is thrombosed and left CIA shows multifocal areas of narrowing and occlusion of 90% [Figure 1b]. The patient was subjected for PTA, left CIA approached from the left brachial artery with 0.035 Terumo wire and exteriorized through left femoral artery [Figure 2a]. The right femoral arterial approach was used for deploying CIA stent. Serial predilatation was done using 8 mm x 55 mm peripheral balloon [Figure 2b]. A 8 mm x 120 mm medtronic self-expanding stent was deployed in the right CIA and 7 mm x 150 mm medtronic self-expanding stent deployed in left CIA. A postdilatation with simultaneous kissing at aortoiliac junction was done using 8 mm x 55 mm balloon in right CIA and 7 mm x 40 mm balloon in left CIA. Postprocedure showed good distal flow [Figure 3]. CT peripheral angiogram was done after 1 week which showed patent stent seen in relation to distal aorta, left CIA, external, right CIA [Figure 4].",
"gender": "Male"
}
] |
PMC5320816
|
[
{
"age": 77,
"case_id": "PMC5313436_01",
"case_text": "A 77-year-old man was diagnosed with diffuse large B cell lymphoma stage IIA at low-intermediate risk according to the international prognostic index in July of Year X. A routine examination before treatment revealed positive HBsAb and HBcAb and negative HBsAg and HBV-DNA; we therefore concluded that this patient had previously had an HBV infection and started periodical monitoring of HBV-DNA according to the recommended management scheme in Japan. Six courses of R-CHOP therapy successfully induced complete remission.\nSince the patient remained negative for HBV-DNA for 20 months after R-CHOP therapy, we suspended further monitoring in November of Year X+2. We continued measuring ALT/AST as a routine laboratory test at outpatient visits. Nineteen months later (June of Year X+4; 33 months after the last session of R-CHOP therapy), this patient presented with increased levels of liver enzymes (ALT 104 IU/L, AST 97 IU/L) that had been within normal ranges one month prior. A further examination revealed reverse seroconversion of HBs (HBsAg 111 IU/mL, HBsAb <10 mIU/mL), and given that the patient had no history of blood transfusions and was sexually inactive, we diagnosed him with de novo hepatitis. The lymphocyte counts in the peripheral blood and serum IgG level were within normal limits. Entecavir was started, and the hepatitis resolved promptly leading to rapid suppression of HBV-DNA and HBsAg and recovery of HBsAb (32.1 mIU/mL) within two months. The clinical course of HBV-related markers is shown in Table 1. A further examination revealed that the patient had HBV-DNA genotype B, with a mixed precore mutation (nt1894, 10% mutated and 90% wild) and a wild type core promotor region (nt1972 and nt1974).",
"gender": "Male"
}
] |
PMC5313436
|
[
{
"age": 46,
"case_id": "PMC4378320_01",
"case_text": "A 46-year-old Caucasian male presented to the Department of Implant Dentistry, Faculty of Dentistry, University of Sao Leopoldo Mandic, Campinas, Sao Paulo, Brazil, in August 2012, requesting implants for aesthetic and functional purposes. Titamax Ex external hexagon implants (Neodent, Brazil) were placed in the regions of the upper left premolar and the lower left first molar, with their respective healing abutments. In June 2013, the patient presented with a lesion associated with and covering the lower left first molar implant site. Intraoral examination showed a well-circumscribed, pedunculated, painless, purple mass measuring approximately 1 cm, rubbery in consistency. Radiographically, in the lower left molar region, the presence of an implant was observed without evidence of radiographic features that would be compatible with bone involvement (Figure 2). The clinical differential diagnosis was pyogenic granuloma and peripheral giant cell granuloma (PGCG) (Figure 1). The patient underwent an excisional biopsy, which was sent to the Department of Oral Pathology, Faculty of Dentistry, University of Sao Leopoldo Mandic, Campinas, Sao Paulo, Brazil. The biopsy was fixed in 10% buffered formalin for 24 hours. Macroscopic examination revealed two fragments of brown-colored soft tissue, with a fibrous consistency, the larger fragment measuring 10 x 8 x 4 mm and the smaller fragment 7 x 6 x 3 mm. Histopathological examination revealed a fragment of mucosa lined by a parakeratinized stratified squamous epithelium. The lamina propria was composed of connective tissue containing various multinucleated giant cells surrounded by ovoid and spindle-shaped mesenchymal cells with multiple interspersed small blood vessels (Figure 3). The histopathological diagnosis was peripheral giant cell granuloma.\nIn October 2013, the patient was referred to the Oral Medicine Clinic, Faculty of Dentistry, University of Sao Leopoldo Mandic, Campinas, Sao Paulo, Brazil, with a recurrence of the lesion. A deeper and wider excisional biopsy, curettage of the adjacent bone, and application of surgical cement were performed. The biopsy was once again forwarded to the Department of Oral Pathology, Faculty of Dentistry, University of Sao Leopoldo Mandic, Campinas, Sao Paulo, Brazil. The histopathological diagnosis was peripheral giant cell granuloma. The patient remains lesion-free following one year of follow-up.\nThe paraffin-embedded blocks from each biopsy were selected for immunohistochemical staining using the antibody CD68. Five mum sections were deparaffinized, hydrated, and subsequently immersed in 3% hydrogen peroxide for 30 minutes (Dinamica, Diadema, SP, Brazil). For antigen retrieval, the slides were put into a steamer immersed in a citrate buffer (pH 6.0) for one hour at 95 C (Sigma, St. Louis, MO, USA). The sections were then incubated with the primary antibody overnight at 4 C at a dilution of 1 : 1200 (Dako, Carpinteria, CA, USA). The sections were then incubated with Labeled Streptavidin Biotin (LSAB, Dako, Carpinteria, CA, USA) for 30 minutes, stained for 5 minutes at 37 C with 3.3'-diaminobenzidine tetrachloride (Dako, Carpinteria, CA, USA), and counterstained with haematoxylin (Dinamica, Diadema, SP, Brazil). Macrophages were used as the positive control.\nImmunohistochemical staining with CD68 was strongly positive for multinucleated giant cells, as shown in Figure 4, suggesting a histiocyte/macrophage or osteocyte origin.",
"gender": "Male"
}
] |
PMC4378320
|
[
{
"age": 0,
"case_id": "PMC6260389_01",
"case_text": "Patient one, a 3-month-old female patient, presented in March 2015. Her parents had noticed a rapidly growing maxillary swelling during the previous month. The patient's medical history was insignificant. On examination, a firm swelling measuring 3 x 4 cm was detected on the anterior maxilla. The overlying mucosa was ulcerated in the middle, with a deciduous incisor exfoliating through the lesion (Fig. 1).\nMultislice Computed Tomography (CT) revealed a well-defined osteolytic lesion encroaching on the right anterior maxillary wall. Incisional biopsy, performed by a team led by author FAM, confirmed a diagnosis of melanotic neuroectodermal tumour of infancy. Subsequently, a second surgery was performed in April 2015, with tumour excision via a transoral approach (Fig. 2, Fig. 3).\nPossibly due to the conservative nature of the surgical excision and/or tumour seeding, a recurrence of the lesion occurred four months later in August 2015. Via a Weber Ferguson approach, a right subtotal maxillectomy was performed to resect the recurrent tumour with a safety margin of 1 cm. Histopathology affirmed the diagnosis of MNTI. The patient's subsequent recovery was uneventful; she has been followed up for over three years, with no incidence of recurrence clinically or radiographically (Fig. 4, Fig. 5).",
"gender": "Female"
},
{
"age": 0,
"case_id": "PMC6260389_02",
"case_text": "The second patient was a 4-month-old female infant, who presented to our unit in December 2015 after her parents noticed a progressively growing left maxillary mass of gradual onset.\nOn examination, a well-defined firm mass of the left maxilla was detected. The lesion was roughly 4 x 5 cm in size and smooth in texture, with an ulcer measuring 1 x 1 cm located at the lesion's surface. Computed Tomography revealed an expansile lesion of the left maxilla with poorly-defined margins (Fig. 6, Fig. 7).\nAn incisional biopsy revealed a diagnosis of Melanotic Neuroectodermal Tumour of Infancy. Histologically, the specimen showed groups of round cells with abundant cytoplasm and pale nuclei, surrounding nests of neuroblast-like cells possessing scant or fibrillar cytoplasm. Immunohistochemistry confirmed the specimen was positive for both HMB45 and Synaptophysin.\nA thorough work-up was subsequently performed, including Computed Tomography of the chest, abdomen and pelvis to rule out any metastasis; this was negative for any tumor spread.\nVia a Weber Ferguson approach, a surgical team headed by author ME performed a left subtotal maxillectomy and the tumour was excised with a safety margin of 1 cm. The surgical defect was closed primarily with the use of a buccal fat pad and no reconstructive procedure was taken (Fig. 8, Fig. 9).\nA follow-up CT was taken 18 months postoperatively, with no recurrence detected. Accordingly, a minor residual soft tissue defect in the left premaxilla was closed via a local flap in July 2017. The patient has been followed up for over two years following the MNTI excision, with no signs of recurrence clinically or radiographically (Fig. 10).",
"gender": "Female"
}
] |
PMC6260389
|
[
{
"age": 27,
"case_id": "PMC3555002_01",
"case_text": "A 27-year-old male present with a slow growing painless mass in right upper lid since past 6 months duration. The mass was 1.5 cm x 1.5 cm firm, non-tender, sub-cutaneous and not fixed to underlying tissues [Fig. 1]. This was a recurrence of a lesion that had been removed by lamellar excision in the same site 2 years back. The recurrent mass was removed this time by pentagonal full thickness lid excision with re-construction by advancement eyelid flap. Histopathological examination showed tumor with variegated appearance. The epithelial component composed of round to oval cells with large nucleoli with scanty cytoplasm and the cells were arranged in nests and acinar pattern. The coating for epithelium of the glandular elements was two layered. The intervening stroma showed fibrosis and myxoid areas. No evidence of lacrimal gland tissue was noted in multiple sections [Fig. 2].\nChondroid syringoma is a tumor arising from the sweat glands which can be apocrine (found throughout the surface of lid) or eccrine (glands of Moll in association with eyelash follicles) with a mean age of 50 years (22-73 years). Ozdal et al. in a study of 228 benign ocular adnexal tumors reported apocrine/eccrine hydrocystoma as very common and no case of Chondroid Syringoma was found in that series. Tyagi et al. in their study of 207 eyelid tumors had one case of Chondroid syringoma with an incidence of 0.48% in their series.\nThis tumor was first described by Billroth and the term chondroid syringoma was coined by Hirsh and Helwig to characterize the origin from sweat glands though the appearance is like pleomorphic adenoma of lacrimal gland. A proper histopathological examination to rule out presence of normal lacrimal gland tissue external to the tumor capsule helps to differentiate chondroid syringoma. The case being reported had tubular and cystic branching lumina with 2 layered epithelium showing an apocrine origin.\nChondroid syringoma is a benign tumor but incomplete excision can undergo malignant transformation. Hence complete excision is advised.\nThis case is being reported for its rarity (this is the 28th case in literature involving ocular adnexa), its occurrence in a young patient and the need to keep this rare entity as a differential diagnosis of eyelid tumors.",
"gender": "Male"
}
] |
PMC3555002
|
[
{
"age": 20,
"case_id": "PMC4900127_01",
"case_text": "A 20-year-old female presented with classic symptoms of Cushing's syndrome. The patient first noticed symptoms one year earlier. During that year, she complained of a 60-pound weight gain, amenorrhea, hirsutism, acne, bruising, and diffuse striae. Physical examination demonstrated moon facies, \"buffalo hump,\" and diffuse striae (abdomen, hip, buttock, breast, and lower extremity), as well as acne, bruising, and significant hirsutism (Figs. 1A-C).\nBiochemical evaluation revealed elevation of both cortisol (serum 26.0 microg/dL, normal range 5-23 microg/dL) and adrenocorticotropin hormone (ACTH) (32 pg/mL, normal range 5-27 pg/mL). Neither cortisol nor ACTH was suppressed by a high- or low-dose dexamethasone suppression test. MRI of the head with and without contrast (performed to evaluate for a potential pituitary adenoma, given the elevated ACTH) revealed a possible microadenoma, although this was felt to be an unlikely source of excess ACTH. Subsequently, a contrast-enhanced computed tomography (CT) scan of the chest, abdomen, and pelvis was performed to search for an ectopic source of ACTH production. The CT revealed a 7x4cm, heterogeneous, lobulated, left adrenal mass. Portions of the mass showed poorly defined margins, raising suspicion for local invasion into the retroperitoneal fat (Figs. 2A-C). Contrast enhancement kinetics could not confirm an adrenal adenoma (relative percentage washout [RPW] of 24%), although this examination was not performed for dedicated adrenal mass evaluation (images were obtained at 75 seconds and 3 minutes per a standard abdominal CT protocol versus at 60 seconds and 15 minutes per a dedicated adrenal mass protocol). Given the size of the mass and clinical findings of hormonal hypersecretion, adrenal cortical carcinoma was the favored diagnosis. The right adrenal gland was normal, and there was no imaging evidence for distant metastasis within the chest, abdomen, or pelvis.\nGiven the presence of an adrenal mass, additional biochemical evaluation was ordered; it revealed elevation of dehydroepiandrosterone sulfate (DHEA-S) (697 ug/dL, normal range 145-395 ug/dL). Elevation of multiple adrenal products, especially the sex hormone precursors DHEA-S and testosterone, also raised suspicion for carcinoma. Metanephrines, prolactin, growth hormone, luteinizing hormone, and follicle-stimulating hormone were normal.\nThe patient underwent open surgery with en bloc resection of the tumor. An elongated, lobulated, left adrenal mass weighing 136g was removed (Fig. 3). Afterward, the patient's cortisol, DHEA, and ACTH levels returned to normal. Histopathological evaluation of the specimen demonstrated an adrenal neoplasm with two large nodular foci of extension into the surrounding fat. Grossly, the tumor was friable, beige-tan, with areas of pale yellow necrosis. On light microscopy, the vast majority of the tumor showed a lobular-to-solid growth pattern with deeply eosinophilic cytoplasm (Fig. 4a). A few vacuolated foci were present (Fig. 4b). The adrenocortical carcinoma (ACC) showed extensive infiltration into the adjacent fat (Fig. 4c). Marked cytologic atypia was noted, with nuclear enlargement and pleomorphism. Lipofuchsin pigment, typical for hormonally active tumors, was easily discernible. Pathologically, a tumor is defined as ACC when three of the following histologic criteria are met: 1) high nuclear grade, 2) mitotic rate > 5 per 50 high-power fields, 3) atypical mitoses, 4) clear cells < 25%, 5) diffuse architectural pattern in more than one-third of the tumor, 6) confluent necrosis, 7) venous invasion, 8) sinusoidal invasion, and 9) capsular invasion. This tumor fulfilled five of the criteria. Curiously, despite the aggressive pattern of invasion, mitotic figures were less than 5/50 hpf, and no atypical mitoses were noted.\nThe invasion into surrounding tissue, in addition to the size of the tumor, indicated a stage III ACC. After surgery, the patient underwent 45 days of adjuvant external-beam radiation. The etiology of the elevated ACTH levels in the setting of ACC remains unclear. Furthermore, the tumor did not stain for ACTH (Fig. 5).\nOne year following surgery, the patient has returned to her baseline weight with near-complete resolution of her Cushingoid habitus and hirsutism, and a return of menstruation. Followup abdominal and pelvic CT 11 months after surgery revealed no evidence of local recurrence or distant metastasis.",
"gender": "Female"
}
] |
PMC4900127
|
[
{
"age": 60,
"case_id": "PMC4178356_01",
"case_text": "A 60-year-old lady reported to the Department of Oral and Maxillofacial Surgery (OMFS) with chief complaint of swelling at anterior region of mandible since 6 months. Patient gave history of trauma at chin region due to Road Traffic Accident (RTA) 3 years back. At that time, patient was conservatively managed by some private clinician. After 6 months of trauma, patient noticed an extra oral swelling over anterior mandible with pus discharge intraorally. After 1 year of time, patient noticed loosening of mandibular anterior teeth. Patient again went to a private clinician where she was again conservatively managed with medication. Since past 2 years pus used to appear intermittently from same place, which used to stop on use of antibiotics. But since last 6 months, there is gradual increase in swelling of anterior mandible for which patient reported to OMFS department where patient was examined, evaluated and incisional biopsy of lesion was done which was suggestive of ameloblastoma. Then patient was admitted to OMFS ward for further management.\nExtra-oral inspection showed a large swelling in anterior region of mandible over chin area crossing midline, measuring approximately 8 x 7 cm in size. Face was asymmetrical, deviated towards left. Scar mark was present over right side of chin. Color of the overlying skin was normal. On palpation, the swelling was bony hard. It was non-compressible, non-fluctuant, and slightly tender. Temperature of overlying skin was normal. Swelling extends to involve bilateral body of mandible [Figure 1].\nIntra-oral inspection showed a large swelling seen involving buccal vestibule, floor of the mouth, and lower alveolus region. Mouth opening was adequate. On palpation, intraoral swelling was hard and mild tender. Sinus opening with respect to lower right and left canine (may be socket of teeth). There was bleeding from lower left canine region on palpation [Figure 2].\nIncisional biopsy revealed epithelial islands admixed with fibrocollagenous tissue. Outermost layer of epithelial island was composed of tall columnar cells with polarization of the nuclei away from the basement membrane. The central portion of the island was composed of loose network of cells showing squamous metaplasia [Figure 3].\nOrthopantomogram (OPG) of mandible showed multilocular expansile lytic lesion involving the symphysis and bilateral body of mandible. All mandibular teeth were lost except one molar tooth on either side [Figure 4].\nComputed tomography (CT) scan revealed: Plain and contrast axial and coronal CT scans of face region revealed large multiloculated cystic expansile lesions arising from symphysis menti and bilateral body of mandible, and extending up to bilateral angle of mandible. Margins of the lesions were sclerotic and scalloped. Overlying all mandibular teeth was lost except one molar tooth on either side. Bilateral masseter muscles and tongue was normal in CT attenuation and dimensions. No obvious cervical lymphadenopathy [Figures 5 and 6].\nOn the basis of above findings, resection of mandible and reconstruction with reconstruction plate was planned, under general anesthesia. The mandible was resected bilaterally at the body. The specimen was taken out and the defect was reconstructed using reconstruction plate. The genioglosus and the geniohyoid muscles were tied to the reconstruction plate and the incision was closed [Figures 7-9].\nHistopathological findings of excised specimen confirmed the diagnosis of ameloblastoma.",
"gender": "Female"
}
] |
PMC4178356
|
[
{
"age": 36,
"case_id": "PMC9135378_01",
"case_text": "A 36-year-old male with a medical history of advanced atherosclerosis of the aorta with aneurysm of the right and left sinus of Valsalva, abdominal aortic aneurysm, and renal artery stenosis (post stenting) was admitted with chief complaints of acute-onset high-grade fever and pedal edema. The patient had undergone aortic root replacement and coronary artery bypass graft (CABG) two months prior. His medical history included the headache workup and Grade-IV hypertensive retinopathy, right renal artery stenosis at 11 mm from the origin for which he underwent renal artery stenting 11 years prior. The patient also had a 12.5 cm abdominal aortic aneurysm in the suprarenal abdominal aorta, for which endovascular aneurysm repair (EVAR) with visceral debranching and polytetrafluoroethyelene (PTFE) graft was done eight years back. He also underwent Bentall's procedure four months prior to current admission for sinus of Valsalva with a massive aneurysm with thrombosis, which was detected on imaging on follow-up.\nOn admission, his blood pressure was 120/88 mmHg, heart rate was 142/min, the temperature was 38,3 C, pallor. He was pale and pedal edema was present. The patient was diagnosed with acute left ventricular failure with suspected infective endocarditis in view of prior surgeries, fever, and edema. He was started on ceftriaxone, vancomycin, and gentamycin. Fever persisted, and he developed oliguria, unresponsive to diuretics, progressive breathlessness, hypotension; and had a sudden cardiac arrest on the 7th day of admission and died.\nThe laboratory work-up showed hemoglobin of 7.8 g/dL (reference value [RV]: 12-14 g/dL), leukocytes of 9,670/ mm3 (RV; 4.4-11.3 x 103/mm3) without a shift to the left, and platelets of 156,000/mm3 (RV; 150-400 x 103/mm3), creatinine of 1.3 mg/dL (RV: 0.4-1.3 mg/dL), and normal electrolytes. Bedside 2D echocardiogram showed left ventricular function of 15-20% with moderate aortic regurgitation. Paired blood culture revealed growth of Acinetobacter species.",
"gender": "Male"
}
] |
PMC9135378
|
[
{
"age": 20,
"case_id": "PMC1192821_01",
"case_text": "A 20-year-old Tunisian man with a three weeks history of dyspnoea, cough and haemoptysis was admitted. At the age of 18, he had suffered from painful oral and genital ulcerations and polyarthralgias. At that time, examination revealed bilateral papillary oedema and brain magnetic resonance imaging showed superior sagittal and left lateral thromboses. The patient was given oral prednisone at the dose of 1 mg/kg/day that was tapered gradually and colchicine 1 mg/day in addition to acenocoumarol to maintain International Normalized Ratio between 2 and 3. These medications were discontinued per the patient 7 months later which resulted in the recurrence of aphtous ulcerations and papulopustular eruptions episodes.\nOn physical examination the patient had fever, face and neck oedema, prominent superficial thoracic venous collaterals, and pseudofolliculitis lesions. There was evidence of penile and scrotal scarring and minor aphthae on the buccal mucosa. Blood pressure was 110/80 mm Hg and pulse rate 100/min.\nAs to laboratory tests, haemoglobin concentration was of 9 g/dl, erythrocyte sedimentation rate of 60 mm/hr and C reactive protein concentration of 19 mg/l (normal < 2 mg/l). Renal and liver function tests were normal. Levels of serum IgG and IgM anticardiolipin, protein C, protein S, antithrombine III and total homocysteine were within the normal range. Electrocardiogram showed sinus rhythm tachycardia with no other abnormalities. Chest X-ray demonstrated hilar enlargement. Transthoracic and transoesophageal echocardiography showed multiple cardiac masses, one in the right atrium protruding through the tricuspid valve and two in the right ventricle (Figure 1 - see Additional file 1). Helical computed tomography (CT) showed multiple thrombi in both right atrium and ventricle extending into the superior vena cava. There was innominate and brachiocephalic vein occlusion, it also showed bilateral pulmonary embolism and multiple pulmonary infarcts in the lower lobe of the lungs. A large (14 mm in diameter) aneurysm located in the right basal segmental arteries (Figure 2 - see Additional file 2). We opted for a treatment based on low molecular weight heparin twice daily then oral anticoagulant, 1 gr of methyl prednisolone per day for 3 days, 1 mg/kg/day of oral, then tapered over 3 weeks and 1 g pulse cyslophosphamide monthly associated with colchicine 1 mg/day.\nTwo weeks later, oedema of the chest and neck has completely resolved. Thrombus size has substantially decreased. Nine months after discharge, no cardiac masses were detected by echocardiography and CT scan showed no evidence of previously mentioned thromboses with a complete disappearance of pulmonary aneurysm.",
"gender": "Male"
},
{
"age": 29,
"case_id": "PMC1192821_02",
"case_text": "A 29-year-old Tunisian man with a two-month history of fever of unknown origin, weight loss and inspiratory thoracic pain was admitted. He had suffered from both genital and oral ulcers over five months. The initial physical examination revealed a temperature of 38 C, multiple pseudofolliculitis, oral and scrotal ulcerations. Laboratory tests on admission revealed: haemoglobin of 13 g/dl, erythrocyte sedimentation of 105 mm/hr and C reactive protein concentration of 204 mg/l. The tests looking for antiphospholipid antibodies, protein C, protein S and antithrombine III deficiencies were negative. The plasma total homocysteine level was 27 mumol/l (normal < 10 mumol/l). HLAB5 and pathergy tests were positive. Electrocardiogram showed sinus rhythm tachycardia, and chest X-ray was normal. Transoesophageal echocardiography revealed a cardiac mass in the right atrium of 20/23 mm size attached into atrial septum protruding through the tricuspid valve into the right ventricle (Figure 3 - see Additional file 3). These findings were confirmed by CT scan that also showed a partial obstruction of the terminal portion of the inferior vena cava and thrombosis of the left lobar pulmonary artery with multiple pulmonary infarcts. We started treatment with intravenous heparin then oral anticoagulant, 1 gr of methyl prednisolone per day for 3 days, 1 mg/kg/day of oral, which was tapered gradually and 1 g pulse of cycslophosphamide monthly associated with colchicine 1 mg/day. Consequently, the thrombus in the right atrium has substantially decreased in size. At five months follow-up, a complete resolution of the thrombi in the right atrium, vena cava and pulmonary artery tree was observed.",
"gender": "Male"
}
] |
PMC1192821
|
[
{
"age": 71,
"case_id": "PMC2797594_01",
"case_text": "Case 1: A 71-year-old man entered our emergency department presenting with abdominal pain that had lasted for six months and had worsened in the last week. His past medical history revealed hypertension, tabagism, dyslipidemia and epilepsy. His left lower leg was amputated 11 years earlier, after an accident with chemicals; the right lower leg of the patient was also amputated after an episode of acute ischemia six years before that date. His physical examination revealed a painful, palpable pulsatile mass extending from the mesogastrium to the infraumbilical area. There was no femoral pulse, but the stumps and buttocks had a normal temperature. An abdominal computed tomography (CT) scan revealed a thrombosed infra-renal aneurysm with a maximum transverse diameter of 10.5 cm (Pictures 1 and 2).\nAfter cardiac evaluation, an elective laparotomy was performed. The surgery revealed an inflammatory aortic aneurysm with clearly visible local wall necrosis (Picture 3). After clamping the aorta, the aneurysm sac was incised, releasing a great volume of thrombosed and liquefied clots under significant pressure. The aorta and both iliac common arteries were sutured, and no bypass was performed. The postoperative course was unremarkable, and the patient was sent home on the sixth postoperative day. He continued with ambulatory consultations. On the 40th postoperative day, the patient returned to the emergency room in a septic state with abdominal pain, ascites and circulatory shock. The patient expired in the emergency room before surgery could be performed, despite aggressive attempts to resuscitate him. The post mortem examination revealed diffused peritonitis as a consequence of mesenteric ischemia and perforation of the small intestine, associated with pancreatitis. There was neither an aortic stump blow-out nor a colon ischemia.",
"gender": "Male"
},
{
"age": 57,
"case_id": "PMC2797594_02",
"case_text": "Case 2: A 57-year-old man sought medical attention for evaluation of spontaneous ischemic necrosis of the fifth toe of the right foot. He denied symptoms of abdominal pain, but his general condition was extremely poor. Notable parts of his past medical history included hypertension, tabagism, coronary heart disease and stroke. His physical examination indicated a 4-cm palpable pulsatile mass in megogastrium. There were no femoral or distal pulses. A CT scan of the abdomen and lower extremities revealed a thrombosed 3.5-cm infra-renal AAA with occlusive arterial disease of the iliac and femoral arteries (Picture 4). Deep femoral arteries were patent. A duplex scan of the carotid arteries showed an occlusion of the right internal carotid artery and no significant stenosis in the left internal carotid artery.\nCardiac evaluation had deemed him as high risk for open repair. An axillobifemoral bypass using an 8-mm Dacron graft was performed under general anesthesia. The patient was sent home on postoperative day 8. The patient is still been attentively observed to check the aneurysm.",
"gender": "Male"
},
{
"age": 58,
"case_id": "PMC2797594_03",
"case_text": "Case 3: A 58-year-old man sought medical attention for evaluation of an infected ulcer in the calcaneous and the dorsal aspect of the left foot. He denied any symptoms of abdominal pain. His past medical history was significant for diabetes, hypertension and 38 years of smoking. Clinical examination revealed the absence of femoral pulses. A CT scan of the abdomen and lower extremities detected a 3.0-cm infra-renal AAA and a thrombosed 2.5-cm right common iliac artery aneurysm with occlusive arterial disease of the external bilateral iliacs (Picture 5). Common femoral arteries were evident.\nAn aortic-iliac-femoral bypass was successfully performed. Following a prolonged recovery, due to an uncontrolled infection of the left foot, a transtibial amputation was performed. The patient was discharged and sent home on postoperative day 25.",
"gender": "Male"
}
] |
PMC2797594
|
[
{
"age": 40,
"case_id": "PMC8214893_01",
"case_text": "A 40-year-old man presented to the gastroenterology outpatient department complaining of pain after defecation for 3 months. There was no history of bleeding or mucoid discharge per rectum. Rectal examination showed unremarkable perianal skin, but growth at the fingertip was palpable. Subsequent endoscopic examination of the large intestine showed friable polypoidal growth in the anal canal. The remaining parts of the colon up to the terminal ileum were normal. Abdominal contrast-enhanced computed tomography (CECT) showed a well-defined polyp measuring 18x13x12 mm in the anterior wall of the anorectal junction. There was no definite muscular layer and serosa involvement noted on the pelvic MRI, neither locoregional lymphadenopathy was identified. Perirectal and perianal fat were normal. Serum CEA level was 2.7 ng/ml (Reference Range; RR; 0-4.0 ng/ml). Anti-HIV was negative. Polypectomy was done, and tissue was submitted for histopathological examination.\nOn microscopy, it showed fragmented polypoidal tissue with papillary folds lined by variably thickened truly stratified epithelial cell layers with a maximum of 20 cell thickness (Figure 1A, B). The stratified layers of epithelial cells exhibited full thickness dysplasia with marked nuclear atypia, hyperchromasia, and increase number of mitotic figures, resembling a high-grade squamous intraepithelial lesion (Figure 1C). However, the epithelial cells in the stratified layers had also shown intracytoplasmic mucin vacuoles. Due to the abundance of intracytoplasmic mucin in a few cells, the nucleus was displaced to the periphery and gave a signet ring-like morphology. PAS-AB highlighted intracytoplasmic mucin in the stratified epithelial cell layers (Figure 1 D). There was no gland formation within these stratified layers. Also, adjacent fragments showed invasive components with tumor cells arranged in solid nests with central comedonecrosis, tubules, and trabecular patterns (Figure 22B).\nOn the immunohistochemistry, these stratified cells showed strong immunoreactivity for CK7 and negative expression for p63, excluding the possibility of a high-grade squamous intraepithelial lesion. Furthermore, these cells showed strong nuclear expression for p16, and Ki 67 index was 80% (Figure 3AD).\nThough the usual type adenocarcinoma component was noted in a few fragments in the invasive areas, the observation of truly stratified layers with intracytoplasmic mucin is unusual in the anal canal and not documented in the literature. Unfortunately, due to insufficient material in the formalin-fixed paraffin-embedded block, we could not perform the HPV-ISH or genetic sequencing for the human papillomavirus.\nAfter the polypectomy, whole-body FDG PET CT was performed, which showed mild diffuse FDG uptake in the anorectal region. The patient further received 16 cycles of chemotherapy for the residual tumor. Furthermore, now he is on the 8-month follow-up without symptoms.",
"gender": "Male"
}
] |
PMC8214893
|
[
{
"age": 6,
"case_id": "PMC3350299_01",
"case_text": "Six-year-old female child, first product of nonconsanguineous marriage resident of New Delhi, presented with fever for four days, yellowish discoloration of eyes, and urine for two days, progressive swelling of whole body starting from feet for one day. Fever was moderate to high grade, intermittent in type associated with chills and rigor subsided with medication and profuse sweating. She was having high coloured urine for two days. Progressive swelling of whole body for last one day starting from feet then involved the whole body. Stools were normal in colour. There was no history of black coloured stools, vomiting, bleeding from any site, and any change in conscious level, jaundice in the past, any history of blood transfusion, and intravenous medication in the past or any history of drug intake. There was no history suggestive of respiratory tract infections, skin infection, decreased micturition, and reddish coloured urine. There was no significant past, antenatal, perinatal, or family history. The child was fully immunized and was receiving adequate calories and proteins for her age.\nOn examination, the child was conscious, cooperative, and orientated. At admission her pulse was 78 per minute, respiratory rate 26 per minute, and blood pressure 98/68 mm of mercury. There were severe pallor, and icterus. Lymph nodes were not palpable. On abdominal examination liver was palpable 4 cms below costal margin with span of 10 cm the spleen was palpable 1 cms below costal margin. Her respiratory, cardiovascular (CVS), and central nervous system (CNS) examination was unremarkable.\nOn investigation haemoglobin was 4.9 g/dL, total leucocyte count 10.6 x 103 per muL with polymorphs 54%, lymphocytes 42%, monocyte 4%, platelet count 11x103 per muL and erythrocyte sedimentation rate 8 mm/1st hour by Westergren method. Blood sugar was 84 mg/dL. Total serum bilirubin was 27.5 mg/dL, indirect fraction of 18 mg/dL. SGOT was 495 and SGPT 210. Serum total protein was 2.8 gram (gm) and albumin 1 gm per 100 mL of blood. Blood urea nitrogen was 189 mg/dL, creatinine 0.6 mg/dL, sodium 136 meq/L, potassium 4.1 meq/L. Prothrombin time was 17.3/12 with INR of 1.44. Viral markers (HBsAg, IgM hepatitis C, A and E) were negative. Chest X-ray was normal and ultrasonography abdomen showed hepatosplenomegaly. On peripheral smear trophozoites and schizonts of P. vivax and trophozoites and gametocytes of P. falciparum were seen. Rapid malarial antigen test was positive. Arterial blood gas analysis showed pH 7.45, partial pressure (PP) of oxygen 104, PP of carbon dioxide 45, and standard bicarbonate 28 meq/L. Urine routine and microscopy were normal. She was given injection of Artesunate 2.4 gm per kilogram body weight, along with cefotaxime and vitamin K. She received fresh frozen plasma, packed red cell, platelets along with inotropes. Within five hours of admission she developed profuse upper gastrointestinal bleeding, along with deterioration of consciousness. She went into shock, then cardiorespiratory arrest from which she could not be revived.",
"gender": "Female"
}
] |
PMC3350299
|
[
{
"age": 70,
"case_id": "PMC5872664_01",
"case_text": "The patient was a 70-year-old Caucasian male with coronary artery disease, sick sinus syndrome with pacemaker dependence, chronic kidney disease, type 2 diabetes mellitus, dementia, and schizoaffective disorder, who was found to have spontaneous unilateral epistaxis and left-sided facial asymmetry. He lived at a board and care facility, and medical decisions were made in conjunction with the patient and his sister who was his power of attorney. Prior to these symptoms, the patient was Eastern Cooperative Oncology Group functional status (ECOG) of 2. Upon admission to the hospital, he was found to have a large nasal mass, palpable large left cervical lymphadenopathy. Timeline of events is outlined in Table 1.\nCT imaging demonstrated a large infiltrative enhancing mass centered in the left side of the nasal cavity and left maxillary sinus as well as an enlarged left submandibular lymph node. Left submandibular lymph node fine-needle biopsy demonstrated sheets of lymphocytes with effacement of the normal lymph node architecture, with medium to large lymphocytes with nucleoli and vesicular chromatin. By immunohistochemistry, the atypical cells were Pax-5, CD20, MUM1, BCL2, and BCL6 positive and CD56, TdT, CD10, and cyclin D1 negative, with a Ki-67 of about 95%, consistent with diffuse large B-cell lymphoma, NGCB type (Figure 1). PET/CT was performed after the biopsy to complete staging, which demonstrated multifocal hypermetabolic tumor foci including bilateral nasopharynx, bilateral nasal cavity, left maxillary sinus with extension to the left parapharyngeal space, soft palate, lingual tonsil, palatine tonsil, left face, bilateral neck nodes including jugulodigastric, posterior cervical, and the largest of which was a left submandibular node with central necrosis of 4 centimeters (Figure 2(a)). In addition, the liver and bone were diffusely increased in avidity suggestive of involvement by lymphoma (Figure 2(b)). The initial standardized uptake value (SUV) of the left submandibular node was 6.4, the liver was 3.2 SUV, and the bone marrow was 3.7 SUV. The patient and his sister refused biopsy of these sites to confirm the presence of disease pathologically. Based on these findings and a normal initial LDH level of 159 units per liter, he was considered stage IV, with International Prognostic Index (IPI) of 4 (high risk), as well as high risk for CNS involvement. After discussion with the patient and his sister, decision was made to pursue only \"nonchemotherapy\" treatments. As such, monoclonal antibodies, targeted therapies, and corticosteroids were all considered; however, intrathecal chemotherapy was declined.\nThe patient started treatment with ibrutinib, and the dose was escalated over several weeks to 420 mg daily by mouth. At the same time, 21-day cycles of rituximab 375 mg/m2 IV on day 1 along with prednisone 1 mg/kg PO for days 1 through 5 were also initiated. Supportive care was initiated simultaneously with allopurinol for tumor lysis prophylaxis. In addition, since the patient was wheelchair bound and at risk for thromboembolism, he was started on prophylactic dose of enoxaparin at 40 mg subcutaneously daily. Baseline hepatitis B, C, and HIV testing was negative. The patient tolerated the treatment well with no hematologic toxicities, minimal tumor lysis, no effect on renal or liver function, and no significant infection. The patient had an excellent response to treatment, and after the first cycle of chemotherapy, his epistaxis had resolved and his pain and swelling had also subsided. After five cycles of treatment, the patient had repeat PET/CT imaging that demonstrated near-complete response (Figure 2(a)). The dominant submandibular lymph node decreased in size from more than 4 cm to less than 1.5 cm, there were only residual erosive changes in the maxilla with mild residual FDG avidity (SUV max 3.6), the FDG activity in the liver resolved to SUV 2.7, and however the bone marrow remained PET avid with SUV 3.8. After 4 additional cycles, the patient achieved a complete response on repeat PET imaging including resolution of the bone marrow avidity (Figure 2(a)). This response was durable, and even after cessation of therapy, he had no signs of recurrence.\nAfter a total of 9 cycles of rituximab, prednisone, and ibrutinib, the patient had a complete response (Figure 2). At that time, however, ECG demonstrated that he was in atrial fibrillation with rapid ventricular response. He was referred to cardiology, and his dose of enoxaparin was increased to a therapeutic level at 1 mg/kg subcutaneously twice per day. He was started on beta blockade with control of his heart rate. At that point, the plan was to transition to rituximab maintenance every 2 months. Ibrutinib was continued as his atrial fibrillation seemed to be rate controlled. Repeat PET/CT showed the disease was still in remission one month later; however, prior to his first dose of maintenance rituximab, he presented to an outside hospital with fever, cough, shortness of breath, and atrial fibrillation with rapid ventricular response. He was diagnosed simultaneously with sepsis from pneumonia and respiratory failure from both pneumonia and an acute exacerbation of heart failure. During the hospital course, the patient and his sister decided to stop all interventions and he was made comfort care. He died a few weeks later on hospice care. Despite being off of treatment for several weeks, however, there was no sign of recurrent disease at that time.",
"gender": "Male"
}
] |
PMC5872664
|
[
{
"age": 2,
"case_id": "PMC4789394_01",
"case_text": "A fifty-two-year-old, nonsmoker female presented with right-sided severe dull aching chest pain, dry cough, and exertional dyspnoea for four months. Severity of chest pain was gradually increasing and disturbs her sleep at night. Shortness of breath was initially of mMRC grading 2; later it was increased to grade 3. There was no history of hemoptysis, fever, weight loss, and loss of appetite. There was no past history of pulmonary tuberculosis.\nOn examination, general survey revealed no abnormality. Her temperature was 97.2 F, pulse rate, 84 beats/minute, respiratory rate, 24 beats/minute, and blood pressure, 124/80 mmHg. Examination of respiratory system revealed diminished movement of chest wall on right side, tracheal shifting to left, apical impulse in left fifth intercostal space, 1.5 cm lateral to the left midclavicular line, stony dull percussion note over right chest wall, absent vesicular breath sound, and diminished vocal resonance on right side, suggestive of right-sided pleural effusion. Examination of other systems revealed no abnormality.\nComplete hemogram and blood biochemistry (including serotonin, gastrin, somatostatin, and glucagon) were within normal limit. Chest X-ray posteroanterior view (CXR, PA view) revealed right-sided pleural effusion (Figure 1). Ultrasound of abdomen revealed no abnormality. Pleural fluid was aspirated from right hemithorax and its analysis showed haemorrhagic, exudative, and lymphocyte predominant pleural effusion with adenosine deaminase level 16 U/L. No malignant cell or acid fast bacilli were seen in pleural fluid. Contrast enhanced computed tomography (CECT) of thorax showed only right-sided pleural effusion (Figure 2). No mass lesion or mediastinal lymphadenopathy was detected on CECT thorax. Closed pleural biopsy was done with Abram's needle and histopathological examination of biopsy tissue taken from right parietal pleura showed diffuse sheets of round to oval cells with hyperchromatic nuclei and scant to moderate amount of cytoplasm. Few scattered large cells with abundant eosinophilic cytoplasm were present. Focally spindle cells with hyperchromatic nuclei were seen. Focal micropapillae formation was also noted; features were suggestive of a poorly differentiated malignant tumour (Figure 3). Immunohistochemistry of pleural tissue showed that majority of tumour cells were positive for synaptophysin and a few cells were positive for Ki-67 (2%) and negative for pan-cytokeratin, calretinin, Wilm's tumour protein 1 (WT1), desmin, vimentin, carcinoembryonic antigen (CEA), thyroid transcription factor 1 (TTF1), and CD 56 (Figure 4). Hence, tissue diagnosis was well-differentiated malignant neuroendocrine tumour of pleura. Histopathology and IHC findings were reviewed by another pathologist of different centre, and the diagnosis was confirmed. Fibreoptic bronchoscopy (FOB) was normal. CECT of abdomen and brain revealed no abnormality. No abnormality was detected on endoscopic examination of upper gastrointestinal tract and on colonoscopy. Radionuclide bone scan did not show any metastatic deposit in bones. So, final diagnosis was primary, well-differentiated, malignant neuroendocrine tumour of pleura, presenting as isolated right-sided pleural effusion.\nSix cycles of cytotoxic chemotherapy comprising of intravenous infusion of carboplatin (at an area under the concentration-time curve 6.0 on day 1, 450 mg in this case) and etoposide (100 mg/m2/day, 130 mg in this case on days 1, 2, and 3) were given. Along with chemotherapy, intercostal tube drainage under water seal was given in right hemithorax through fifth intercostal space at right midaxillary line, as recurrent and rapid collection of massive amount of pleural fluid occurred and repeated aspiration of pleural fluid failed to reduce the volume of pleural fluid. When there was clinicoradiological evidence of complete expansion of right lung parenchyma, chemical pleurodesis with 20 mL of 10% povidone-iodine was done. On one-year follow-up, progressive regression of pleural effusion with alleviation of chest pain was documented.",
"gender": "Female"
}
] |
PMC4789394
|
[
{
"age": 57,
"case_id": "PMC4900105_01",
"case_text": "A 57-year-old Caucasian female with a known history of a 20-year, stable midline cerebellar mass presented with severe gait ataxia. Conventional brain MRI scans included diffusion tensor imaging (DTI). MRI data was processed to obtain tractography and fractional anisotropy (FA) maps using GE FuncTools software. MR images were examined for extent and location of tumor as well as invasion, destruction, or displacement of brain parenchyma and white-matter tracts. A 4.0 x 3.9-cm solid cystic lesion with lobulated margins in the cerebellar vermis was observed on T2-weighted MRI (Figs. 1A, 1B), which had increased in size from prior studies. There was also herniation of the vermis with effacement of the quadrigeminal plate cistern, mild herniation of cerebellar tonsils below the level of foramen magnum, and partial obstruction of CSF outflow at the level of the 4th ventricle. Tractography (Figs. 2A, 2B) and FA maps (Fig. 3) suggested on the basis of imaging that fiber tracts surrounding the lesion were displaced, but fiber integrity (as represented by fractional anisotropy) was maintained. This suggested a less aggressive type of neoplastic lesion.\nThe patient underwent tumor-debulking surgery via a suboccipital craniotomy, with good outcome. The histopathology showed a largely circumscribed astrocytoma with associated macrocysts, microcalcifications, eosinophilic granular bodies, and rare Rosenthal fibers, consistent with a benign entity such as a pilocytic astrocytoma (PA) (Fig. 4). However, focally localized atypical features were also present, including a hypercellular focus with increased mitotic activity and pseudopalisading necrosis, and vascular proliferation, consistent with PA with anaplastic features (Fig. 5). Immunohistochemistry demonstrated GFAP positivity, p53 negativity, and focally positive MIB1 labeling. In light of this patient's longstanding history of a midline cerebellar mass, it is likely that this mass may have been a stable nonanaplastic PA that eventually developed anaplastic features around the time of symptom progression.\nA followup MRI performed three months after resection demonstrated expected postoperative changes without evidence to suggest recurrence.",
"gender": "Female"
}
] |
PMC4900105
|
[
{
"age": 46,
"case_id": "PMC3604869_01",
"case_text": "While driving her car, a 46-year-old woman with long-standing idiopathic hypertension developed a sudden tingling sensation in the right side of her face and arm, heaviness of the right arm, double vision and nausea. Notably, her hypertension was diagnosed at the age of 16 years, and her blood pressure had been difficult to control. At the time of presentation, she was taking three anti-hypertensive drugs. She had never experienced neurological symptoms before.\nShe drove to an emergency department where mild weakness of the right arm was found, and she was immediately referred to the stroke department. An MRI scan revealed no acute ischemia on the diffusion-weighted scan, but on T2*-weighted imaging, a dark focus of increased susceptibility ('microbleed') was visible in the left pons, in the area of her described symptoms (fig. 1). The symptoms fit well with the location because of the proximity to the corticospinal tract (lesion of which causes contralateral weakness) and the medial longitudinal fasciculus (lesion of which causes double vision due to internuclear ophthalmoplegia.) Dizziness is a rather unspecific symptom but often seen with lesions in the vertebrobasilar circulation. On the B-zero diffusion series, the microbleed revealed a rim of T2 hyperintensity consistent with edema and an acute timing of the lesion (fig. 2).\nOn the following day, the patient complained of subjective dizziness, but the neurological exam was normal. She was referred to the nephrology service for better antihypertensive control and was subsequently discharged.\nTransient ischemic attack (TIA) is defined as a focal neurological deficit that normalizes within 24 h and is attributable to ischemia. Microbleeds have been associated with transient deficits, but only in patients with cerebral amyloid angiopathy. This is, to our knowledge, the first report of a presumed hypertensive microbleed presenting with TIA-like symptoms. The case emphasizes the usefulness of MRI in the workup of TIA patients.",
"gender": "Female"
}
] |
PMC3604869
|
[
{
"age": 48,
"case_id": "PMC4296998_01",
"case_text": "A 48-year-old man presented to our clinic with an 8-year history of persistent tinnitus in his right ear, combined with ipsilateral progressive hearing loss and aural fullness. He did not report vertigo, ototoxic exposure, a history of otitis media or trauma, or a similar familial history.\nUpon physical examination, there were no otologic findings, facial palsy, or any other affected cranial nerves. Audiological examination revealed normal hearing in the left ear and moderate to severe sensorineural hearing loss in the right ear, with a speech reception threshold (SRT) of 80 dB and a word recognition score (WRS) of 58%. An audiogram obtained 7 years previously showed mild to moderate hearing loss in the right ear, and the patient had an SRT of 55 dB and a normal WRS of 92%.\nMRI demonstrated a small intracochlear nodular lesion (diameter, 3.0 mm) in the modiolus, with a diffuse contrast in the apical turn, isointense on T1 (Fig. 1) with a high contrast enhancement on T1 postgadolinium images (Fig. 2). The lesion showed sharply delineated edges on enhanced T1-weighted images and sharply delineated signal intensity loss in the high-intensity intralabyrinthine fluid on heavily T2-weighted images (Fig. 3). After 22 months, there were no symptomatic or audiologic changes and MRI presented the same images.",
"gender": "Male"
}
] |
PMC4296998
|
[
{
"age": 9,
"case_id": "PMC2778135_01",
"case_text": "A previously healthy 9-year-old boy (whose mother was recently found to be HIV-positive) presented to the hospital with 1 week of right-sided hemiplegia and right-sided facial palsy. Past medical history included psoriasis, diagnosed 4 years prior. His only HIV exposure was perinatal. On exam the patient weighed 22 kilograms, and vitals signs were within normal limits. He was alert and oriented with a normal level of consciousness and responded appropriately to questions. His speech was slowed and slurred, but this was his baseline according to his mother. He had right-sided facial palsy and right-sided tongue deviation; otherwise cranial nerves were intact. The boy had 3/5 strength in the right upper extremity and 4/5 strength in the right lower extremity. Left-sided strength was 5/5. The patient was able to walk with limited difficulty. Deep tendon reflexes were 2+ and 3+ throughout. Babinski's sign showed dorsiflexion of the right 1st toe. Sensation was intact throughout. The patient also had clusters of 1-2 mm skin colored papules on his forehead and left cheek in addition to diffuse mild psoriatic scaling. Immunizations were up to date. The patient was admitted for a workup of these symptoms.\nLaboratory studies showed complete blood count: hematocrit 31.6%, hemoglobin 10.5 g/dL, white blood cell count 5000 cells/muL (N 41%, L 35%, E 12%, M 6%, B 1%, atypical L 1%), and 157 000 platelets/muL. HIV-antibody test was positive with a CD4 T-cell 0.21% (4 cells/muL) and plasma HIV RNA virus of 185 976 copies/mL (log 5.27). Tests for Cryptococcus antigen, Toxoplasmosis antigen, Ebstein Barr virus IgG and IgM, Cytomegalovirus IgG and IgM, Hepes Simplex virus polymerase chain reaction (PCR), Japanese encephalitis as well as cultures for tuberculosis and fungi (plasma and cerebrospinal fluid, CSF) were all negative. Plasma and CSF samples were positive for JCV by real time PCR with a plasma RNA level of 226 copies/mL.\nThree days after admission a brain computerized tomography (CT) scan was performed and showed frond-like hypodense lesion at the left frontal lobe with mild effacement of the left frontal horn of the lateral ventricle. Highly active antiretroviral therapy (HAART) regimen was subsequently started 10 days after admission, consisting of GPOvir-Z (coformulated zidovudine 250 mg, lamivudine 150 mg, and nevirapine 200 mg). Clinically, the patient deteriorated during the 1st and 2nd weeks of HAART with fever and increased right leg weakness, but immunologic and virologic improvement was seen (CD4 T-cell count 0.8%, 10 cells/muL, and a plasma HIV RNA viral level of 26 532 copies/mL, log 4.42). CT (Figure 1) and brain magnetic resonance imaging (MRI; Figure 2) scans were subsequently performed. The scans showed progressive of white matter lesions with asymmetrical deep and subcortical white matter lesions over the left frontotemporoparietal region and the right frontal lobe. The lesion on the left hemisphere involved internal capsule, lentiform nucleus, thalamus, and genu of corpus callosum and anterior cerebellar hemisphere. There were no enhanced areas after the contrast study.\nThe patient was discharged 7 weeks after the first admission. Upon discharge he was able to walk with assistance, but was unable to speak.\nThe patient was readmitted one day after discharge due to autonomic nervous system dysfunction (nausea, vomiting, and loss of bowel and bladder tone). Deep tendon reflexes were 4+ throughout, and Babinski was positive bilaterally. Continued improvement of immunologic (CD4 T-cell count 2.0%, 30 cells/muL) and virologic (HIV RNA level 3220 copies/mL, log 3.51) measures were seen. Due to progressive neurologic symptoms HAART was ceased. The second MRI (Figure 3) scan was performed and showed a progressive lesion in the same regions as described in the previous MRI, but also found new lesions over the midbrain, pons, and medulla predominantly on the left. The patient was discharged approximately 3 weeks after admission.\nThe patient was readmitted 1 month later (100 days after onset of symptoms). Immune Reconstitution Inflammatory Syndrome (IRIS) was suspected, and the boy was treated with methylprednisolone (2 mg/kg/day) for 5 days. Despite HAART suspension and administration of steroids, his clinical symptoms worsened. The third MRI (Figure 4) scan showed new lesions in the regions of the right brainstem and right hemisphere with gyral enhancement. The patient's mother refused further treatment, he was discharged home, and he subsequently died 1 year later.",
"gender": "Male"
}
] |
PMC2778135
|
[
{
"age": 2,
"case_id": "PMC7263430_01",
"case_text": "The phenotypes associated with C12orf65 variants may be classified into three groups: mild, intermediate and severe, distinguished by disease severity, mortality, and the lack or presence intellectual disability. Here we describe a 2-year-old female patient with Leigh syndrome and a novel frameshift deletion pathogenic variant of the C12orf65 gene. We also review clinical and molecular aspects of the clinical phenotype caused by C12orf65 variants.",
"gender": "Female"
},
{
"age": 2,
"case_id": "PMC7263430_02",
"case_text": "The 2-year-old girl was admitted to our hospital presenting with respiratory failure and sleepiness. Physical examination showed global hypotonia, developmental delay, and no dysmorphisms. She was the first child of healthy consanguineous parents, without pathological familiar history. Delivery was preterm via caesarean section because of foetal distress. Her weight was 1.720 kg, height of 41.5 cm, and an occipitofrontal circumference of 29 cm. The Apgar scores immediately after delivery and at 5 minutes were 3 and 8, so she was given neonatal resuscitation. She was observed in the neonatal care unit for the first three months of life because of respiratory distress episodes. Chromosome analysis showed a normal karyotype, abdominal and ophtamological exams were unremarkable. The patient was then referred to the paediatric unit after the respiratory distress episodes were treated. Her developmental milestones were incompletely informed: social smile and holding head at 3 months, sitting without support at 10 months, crawling at 11 months, and standing up with support and first words at 12 months of age. After the first year of life, the patient presented with failure to thrive and neurological regression was reported as she stopped grabbing toys and pointing objects and persons. At 2 years of age, she started episodes of diarrhoea and sleepiness evolving with respiratory failure at home and was taken to the emergency room for support and management. Her respiratory failure could not be resolved, so she was referred to the paediatric intensive care unit for better support. Her laboratory findings showed consecutive high levels of serum lactate (21 mg/dL when admitted to our critical time intervention programme, 19 mg/dL at day 7, 54 mg/dL at day 14, 69 mg/dL at day 19, and 30 mg/dL at day 24 after admission; the reference lactic acid level is 4.5 - 14.4 mg/dL). Metabolic investigations included tandem mass and urinary organic acid analyses, which were normal. Ophthalmological examination showed optic atrophy and echocardiography, abdominal and doppler sonography were normal. The electroencephalography suggested parieto-occipital epileptiform discharges, and brain magnetic resonance imaging (MRI) showed bilateral high intensity T2/Flair foci in the periventricular and peritrigonal white matter, internal capsule of the posterior limb and thalamus periphery; additionally, hyperintensities were observed in the cerebral peduncle, midbrain tegmentum, dorsal pons, and medulla oblongata, with a few areas of restricted diffusion, which is typical for mitochondrial disorders (Figure 1).\nEmpirical mitochondrial vitamin cocktail therapy, including thiamine, riboflavin, coenzyme Q10, biotin and L-carnitine, was initiated without clinically detectable improvement. Her treatment outcome was poor, with oxygen dependence, spastic tetraplegy, and severe developmental delay.\nClinical exome sequencing was then performed. Informed consent was obtained from the patient's parents, according to the ethical principles of the Declaration of Helsinki. Genomic DNA was isolated from peripheral blood samples (QIAamp DNA Blood Mini Kit; Qiagen, Hilden, Germany), and was quantified by using the Qubit dsDNA HS Assay kit for the Qubit 2.0 Fluorometer (Life Technologies, Carlsbad, CA). We used the TruSighta One Sequencing Panel (Illumina, Inc., San Diego, CA, USA) for paired-end sequencing with a v3 600 cycles kit on a MiSeq System platform (Illumina), according to the manufacturer's guidelines. The FASTQ files were aligned to the Human Genome Reference Consortium build 37 (hg19) by using the Burroughs Wheeler Alignment algorithm as implemented in the BWA software package. After genome alignment, Variant Calling was performed by using the Genome Analysis Toolkit (GATK). Variants were annotated by using ANNOVAR, and selected read alignments were visualised by using the Integrative Genomics Viewer. All regions with a sequencing depth < 20 were considered unsuitable for analysis. Furthermore, we established a minimum threshold Phred-like quality score of 30 (base call accuracy of 99.9%). Common variants (3 1% in the general population) were discarded by comparison with the 1000 Genomes, the Exome Variant Server, and the Exome Aggregation Consortium database. Synonymous variants were filtered and only exonic and splice site variants were prioritized. Initially, we evaluated the variants in the homozygous state, because the parents of the proband were consanguineous, and prioritized genes based on phenotypic databases, such as the Online Mendelian Inheritance in Man. The variant identified as pathogenic was confirmed by Sanger sequencing.\nWe identified a novel homozygous 14 bp frameshift deletion in exon 2 of the C12orf65 gene: c.207_220del; p.Pro70Asnfs*28 (NM_152269), which was validated by Sanger sequencing, the sequence, being aligned with CRISP-ID (). This variant is not present in population control databases (Exome Aggregation Consortium, 1000 genomes and Exome Variant Server). The truncated protein is predicted to have 96 aa as opposed to the original length of 166 aa, lacking the GCQ domain (residues 57-121) and the coiled-coil region (residues 127-160) (UniProt databank); this likely results in loss of function. Based on these features and according to the American College of Medical Genetics and Genomics guidelines, this variant is considered to be pathogenic.\nTo our knowledge, 27 patients were described with pathogenic variants in the C12orf65 gene with different clinical diagnoses (). The phenotype can vary from spastic paraparesis - type 55 - to Leigh syndrome. It has been thought that the main clinical features caused by C12orf65 variants correspond to a triad of optic atrophy, peripheral neuropathy, and spastic paraparesis, associated or not with Leigh syndrome. The information available from 27 patients showed that 92.3% presented with optic atrophy, 80% with peripheral neuropathy, 60% with spasticity, 52.1% with cognitive impairment, 42.8% with nystagmus, 38.4% with ophthalmoplegia, and 20% with bulbar disfunction. Our patient had optic atrophy, bulbar dysfunction (manifested as dysphagia and respiratory failure), and neurodevelopmental delay. We could not evaluate nystagmus and ophthalmoplegia, and spasticity was not present at the time of examination; the MRI findings were typical for Leigh syndrome. Our patient could be included in the COXPD7 severe phenotype, as she had a dramatically deteriorating course as described by. This phenotype consists of significant cognitive and motor impairment and results in wheelchair dependence and typically abnormal Leigh syndrome brain MRI. Moreover, our patient showed a more severe phenotype when compared to patients described previously. The severity of this phenotype can be explained by the variant found, which affects an important functional protein domain (Figure 2).\nRegarding the molecular status, the 27 described patients had 11 different pathogenic variants in the C12orf65 gene (). These variants were predominantly nonsense, splicing site and frameshift, and considered to be null variants. Only one of them, c.282G > A (p.Lys94Lys), was synonymous, but it was predicted to create a loss of splicing site with retention of intron 2, thus acting as a frameshift variant. The variant found in our patient was also a null variant, and we suggest that truncated C12orf65 proteins were generated after the deletion of 14 base pairs, which reinforces the idea that a loss-of-function mechanism is a fundamental part of the pathogenesis.\nWe classified the phenotype of the reviewed patients as severe when there was bulbar dysfunction, or typical MRI findings of Leigh syndrome, or intellectual disability/neurodevelopmental delay, or absence of ambulation. The variants linked to severe phenotypes were more likely to affect the GCQ domain of the protein, although they could impact other protein domains (Figure 2).\nThe reviewing of clinical features and variants of 27 already described patients and the patient herein shows that the phenotype associated with C12orf65 variants is heterogeneous and that variants impacting the GGQ protein domain tend to be associated with more severe phenotypes. This is in agreement with, who concluded that a clear genotype-phenotype correlation is anticipated, with deleterious mutations that disrupt the GGQ-containing domain being expected to result in a more severe phenotype, whereas downstream C-terminal alterations might result in a more favourable phenotype, typically lacking cognitive impairment.\nOur review also showed that the median age for the onset of symptoms was 4 years and the median age for diagnosis was 17 years, so there was a 13-year diagnostic delay. Our patient presented the first symptoms immediately after birth, and the diagnosis was made two years later. A diagnostic delay may occur because of a variable phenotypic expression, despite the same aetiology (pathogenic variants in the C12orf65 gene), the rarity of the disease, the lack of knowledge about its existence and because of difficult access to molecular confirmation. Compared with literature data, our diagnostic delay was shorter, probably due to our patient having classical MRI signals of Leigh syndrome and elevated serum biomarkers (e.g., lactate), as well as a severe phenotype that contributed to active search for the aetiology. The prompt access to exome sequencing allowed a molecular diagnosis of the disorder.\nIn conclusion, the present study allowed the identification of a C12orf65 gene variant associated with a severe phenotype of Leigh syndrome caused by COXPD7 and reinforces the importance of the GGQ protein domain for the conserved peptidyl-hydrolase function. Furthermore, this study highlights that the mechanism of loss of function has an important role in the pathogenesis of the disease. Additional reports could help to better understand genotype-phenotype correlations.",
"gender": "Female"
}
] |
PMC7263430
|
[
{
"age": 56,
"case_id": "PMC3529871_01",
"case_text": "A 56-year-old woman (body mass index, 29.8 kg/m2), a former smoker, with a history of chronic venous insufficiency who suffered from recent-onset schizophrenia was admitted to our institution for PE after a 48 h treatment with unfractionated heparin in a regional hospital. Two months prior to admission she was hospitalized in a psychiatric ward and received no thromboprophylaxis. On admission, the patient presented with progressing dyspnea, cyanosis and chest discomfort with elevated D-dimer (>16,000 mug/l). Contrast-enhanced computed tomography revealed large emboli at the right pulmonary artery (PA) trifurcation and in the left PA (Fig. 1a). Extensive proximal DVT in both legs was observed. Transthoracic echocardiogram demonstrated right ventricular (RV) overload with RV systolic pressure exceeding 50 mmHg, and a right atrial mass originating in the inferior vena cava. Within 2 h she developed cardiogenic shock requiring inotropic support. Due to rapid clinical deterioration despite anticoagulant therapy, she underwent urgent embolectomy with extracorporeal circulation in deep hypothermia. Pulmonary trunk was opened, and fresh and organized thrombi were removed from right and left lobar and segmental branches. After opening of the right atrium, a 7 cm long fresh thrombus coming from the inferior vena cava was removed. The patient required prolonged ventilatory support and management of pulmonary hypertension during the post-operative period. Three-month follow-up was uneventful. She was treated with warfarin. Thrombophilia screening and family history of thrombosis were negative. Cancer as a cause of thrombosis was excluded. \nThe thromboemboli were evaluated using SEM, as previously described. After washing, the thrombus was fixed with 2.5 % glutaraldehyde phosphate buffered saline solution. Specimens were dehydrated, gold coated, and photographed digitally with a JEOL JSM 5410 (JEOL, Tokyo, Japan).\nThe microscopic analysis revealed that the atrial thrombus was mainly composed of erythrocytes with few platelet aggregates, and some white cells (Fig. 1b, e). The fibrin network of the atrial thrombus was rather randomly arranged. In the thrombi removed from lobar (Fig. 1c, f) and segmental pulmonary arteries (Fig. 1d, g), a stepwise increase in relatively dense fibrin and platelet aggregates was observed. There was a noticeable decrease in the count of erythrocytes and increase in the count of white cells in the thrombotic material removed from lobar and segmental arteries, as compared with the atrial thrombus (Fig. 1). Thrombi removed from lobar and segmental arteries were characterized by fibrin fibers alignment along the longitudinal axis of the respective vessel, which was absent in the atrial thrombus.",
"gender": "Female"
}
] |
PMC3529871
|
[
{
"age": 74,
"case_id": "PMC6123837_01",
"case_text": "A 74-year-old female with a history of hypothyroidism, treated with levothyroxine, presented to the clinic with a 2-month history of involuntary movements. The movements developed slowly over a couple of days. They involved her trunk and thighs, and then spread to her neck and lower extremities over the following weeks. The movements were associated with neck, shoulder, and thigh pain. The movements were functionally and socially impairing with no aggravating or relieving factors reported. Movement did not relieve the associated pain and there was no sense of urgency reported with the movements. She noted the ability to suppress the movements at times. She also reported the presence of dry eyes and mouth over the previous 6-8 weeks. Her physical examination exhibited globally decreased reflexes. Her movements were described as slow, undulating movements of the trunk and legs, which moved and rotated from one side to the other in a non-specific pattern. The movements were only present during rest, either when sitting or lying down and were more intense when lying down. They did not interfere with walking and were absent during sleep (Video 1). The remainder of the neurological examination was unremarkable.\nToxic/metabolic and infectious causes were ruled out. A magnetic resonance imaging (MRI) brain scan, electroencephalogram, nerve conduction studies (NCS), and electromyography of all four extremities revealed no abnormalities.\nA contrasted thoracic-abdominal-pelvic computed tomography scan was normal. Her proinflammatory markers showed highly abnormal acute-phase markers. In addition, her autoimmune profile was positive for antinuclear antibodies (1:640 mottled/spiculated), anti-Ro/SS-A (22.9 U/mL, negative <12 U/mL), rheumatoid factor (immunoglobulin M >200.0 U/mL, negative <6 U/mL), anti-topoisomerase I (29.67 U/mL, negative <32 U/mL), and anticentromere (141.48 U/mL, negative <50 U/mL). A paraneoplastic panel was negative. A Schirmer's test revealed <3 mm and <4 mm of moisture in the left and right eye, respectively. Her salivary gland biopsy showed sialadenitis with a Focus score >2. Lumbar puncture revealed no cells, normal glucose and protein, with positive oligoclonal bands. A diagnosis of pSS was made according to the 2016 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) criteria. Treatment was started with hydroxychloroquine, 200 mg per day; pilocarpine, 5 mg per day; gabapentin, 300 mg per day; and clonazepam, 0.5 mg per day. At the 6-month follow-up, the patient reported 90% improvement of symptoms. The frequency of athetoid movements decreased substantially to a frequency of one or two events per month.",
"gender": "Female"
}
] |
PMC6123837
|
[
{
"age": 8,
"case_id": "PMC6332758_01",
"case_text": "Thirty-eight years old, G0P0, recurrent implantation failure of 11 failed embryo transfers with unknown reason. Her first endometrial microbial analysis by sequencing resulted in NLDM, with dominant Streptococcus spp (Figure 2A, B-1). LF 300 mg/d per os was started after administration of amoxicillin 750 mg/d per os for 7 days. Nineteen days after the initiation of prebiotics (56 days from her first endometrial microbial analysis), second endometrial microbial analysis was performed, resulting in LDM (Figure 2B, B-2 and 5).",
"gender": "Female"
},
{
"age": 3,
"case_id": "PMC6332758_02",
"case_text": "Thirty-three years old, G1P1, male factor, hoping for a second child. She had two failed FBT cycles prior to her initial endometrial microbiome analysis. Her first endometrial microbial analysis by sequencing resulted in NLDM, with dominant Bifidobacterium (Figure 2A, A-1). Although we explained to her that even though the result was classified as NLDM, Bifidobacterium dominancy may not have an adverse effect for implantation, the patient selected to have intervention for her endometrial microbes before her next FBT attempt. After administration of levofloxacin 500 mg/d for 7 days per os, LF 300 mg/d per os and probiotic vaginal suppositories (1 capsule/d) were started. The reason why levofloxacin was selected was that it was one of the broad-spectrum antibiotics available at our clinic as in-house prescriptions, and this patient had not been prescribed it before. Twenty-four days after the initiation of prebiotics and probiotics, second endometrial microbial analysis was performed, resulting in LDM (Figure 2B, A-2). She had a successful ongoing pregnancy in her next FBT (Figure 6). The probiotic vaginal suppositories were discontinued after her pregnancy was confirmed by positive serum beta-hCG. We recommended that she continue LF through her pregnancy.",
"gender": "Male"
},
{
"age": 1,
"case_id": "PMC6332758_03",
"case_text": "Thirty-one years old, G2P0, primary infertility with a male factor. She had four FBT cycles prior to her initial endometrial microbiome analysis and had early miscarriage 7 months before. Her first endometrial microbial analysis by sequencing resulted in NLDM, with dominant Atopobium and Gardnerella (Figure 2A, D-1A). LF 300 mg/d was started after administration of levofloxacin 500 mg/d per os for 7 days. The reason why levofloxacin was selected was the same as in Case 2. Twenty days after the initiation of prebiotics (60 days from her first endometrial microbial analysis), a second endometrial microbial analysis was performed, still presenting NLDM, with changes in dominant microbiota (Figure 2A, D-1B). The patient then underwent oocyte pickup (OPU) with GnRH antagonist protocol. Twelve oocytes were retrieved, seven were fertilized by ICSI, and four blastocysts were vitrified. In our clinic, we make it a rule to administer doxycycline to patients prior to OPU and cefdinir after OPU for the purpose of preventing infection, so she was administered 100 mg/d doxycycline for 7 days per os prior to OPU and 300 mg/d cefdinir for 3 days per os after OPU. Just after her OPU cycle, she used probiotic tampons during her menstruation. Sixty-four days after the initiation of Lf and 16 days from the usage of probiotic tampons (104 days from her first endometrial microbial analysis), a third endometrial microbial analysis was performed, finally resulting in LDM (Figure 2B, D-2). She had a successful ongoing pregnancy in her next FBT (Figure 7). We recommended that she continue LF through her pregnancy.",
"gender": "Male"
}
] |
PMC6332758
|
[
{
"age": 60,
"case_id": "PMC9893367_01",
"case_text": "Through final follow-up, the incidences of postoperative complications after acetabular labral tear treatment via puncture capsulotomy are shown in Table 4. There were no complications in 144 (88.3%) patients. Two patients underwent total hip arthroplasty during their respective follow-up periods: A 60-year-old woman (Outerbridge grade 3) underwent labral repair and subsequent total hip arthroplasty 24 months later because of cartilage degeneration, and a 47-year-old woman (Outerbridge grade 4) underwent labral repair with acetabuloplasty and subsequent total hip arthroplasty 21 months later because of cartilage degeneration. There were no incidences of infection, avascular necrosis of the femoral head, dislocation/instability, or femoral neck fracture.",
"gender": "Female"
}
] |
PMC9893367
|
[
{
"age": 5,
"case_id": "PMC9479501_01",
"case_text": "A 5-year-old male patient was admitted to the National Children's Hospital with the complaint of abdominal pain and distention. Approximately 3 years ago, he presented with unexplained abdominal distention and intermittent abdominal pain accompanied by a sign of bowel loops floating in pain without vomiting. He had alternating episodes of constipation and diarrhea. He has been diagnosed with many different diseases such as prolonged digestive disorder, colitis, or chronic intestinal pseudo-obstruction in several hospitals. Last year, he underwent gastroscopy and colonoscopy with images of total colitis, congestive gastritis with H. Pylori positive, and pyloric regurgitation. The patient then was taken internal medicine with inconsiderable improvement in symptoms. This time, the patient was admitted to the hospital because of more severe abdominal pain and distention. A clinical examination showed his height to be 116 cm (+1SD), and weight 17 kg (-1SD). There was a cafe au lait spot found on the neck, about 2 x 1.8 cm in size. The abdomen was much distended with the sign of bowel loops floating, no response of the abdominal wall, and no peritoneal reaction. On anorectal examination, the rectal balloon was empty.\nHis abdominal X-ray image showed a lot of air-fluid levels, >2.5 cm in width [Figure 1]. On the abdominal ultrasound, the bowel was dilated and distended with air. On the enhanced CT images, there were diffuse lesions of small bowel mesentery and transverse mesocolon, encasing the mesenteric vessels without invasion or causing vessel stenosis/obstruction [Figure 2]. In addition, there were similar lesions surrounding the rectum. The lesions decreased in density on noncontrast CT images (~25HU), and slightly enhanced on portal venous phase CT images (~40HU). The small bowel loops were dilated with the largest transverse diameter of 45 mm. Some loops had wall thickening about 11 mm. There was free abdominal fluid accumulating predominantly in the pelvis cavity.\nThe stool test showed pH = 7 and did not contain blood, mucus, pus, undigested meat fibers, and fungi. The blood test including complete blood count, coagulation tests, and blood chemistry tests (liver and kidney function tests, pancreatic enzymes) were normal.\nThe patient underwent an exploratory laparotomy. Intraoperative observation showed that the bowel loops were dilated about 4 cm in diameter, and the colon was soft in palpation without dilation. The entire small bowel mesentery and the right haft of the transverse mesocolon were thickened with yellow nodular cord-like structures along the vessels [Figure 3].\nThe patient performed biopsies on the lesions of the mesentery and four bowel segments including dilated ileum, collapsed ileum, ascending colon, and transverse colon. The H&E staining specimens on the mesenteric lesions showed tumor tissue structure consisting of clusters of long slender spindle cells with wavy cytoplasm and slightly mucoid basal substances. There was blood vessel proliferation, interspersed with adipose tissue. No evidence of malignant transformation was seen. The immunohistochemical staining results showed S100 (++), SOX10 (-), CD117 (-) [Figure 4]. The final pathologic diagnosis was benign neurofibromatosis. On the specimens of dilated ileum, collapsed ileum, and ascending colon, no enteric ganglia were seen. On the specimens of the transverse colon, there were muscle tissue, enteric nerve plexus, and ganglion cells. Calretininx4 immunohistochemical staining result showed a loss of calretinin expression that indicated a decrease and loss of intestinal muscle function. The Synaptophysin stain result was positive. The pathologic diagnosis was enteric neuromuscular dysfunction.\nWhen performing exploratory laparotomy, the surgeon found that the lesions were diffuse, encased in superior and inferior mesenteric vessels, and unable to completely resect. In addition, the pathologic result was benign. Therefore, the patient was treated with conservative therapy to relieve the symptoms and careful observation to detect malignant transformation early.",
"gender": "Male"
}
] |
PMC9479501
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.