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{
"age": 63,
"case_id": "PMC10872652_01",
"case_text": "A 63-year-old woman (height, 145 cm; weight, 56 kg) with CCD was scheduled to undergo thoracoscopic sublobar resection for right-sided lung cancer. She presented with generalized hypotonia and skeletal muscle weakness since birth and had a history of delayed motor development as a child. She was diagnosed with CCD by muscle biopsy at the age of 36 years, and her father and sister were also affected by CCD. Preoperative physical examination revealed muscle weakness in the lower limbs (Medical Research Council grading scale of Grade 4 for the bilateral quadriceps muscles). The patient did not show objective facial, pharyngeal, or masseter muscle weakness. Standard laboratory testing indicated a normal creatine kinase level of 67 units/l. A chest radiograph showed no lung infiltrates with a cardiothoracic ratio of 0.47 and the absence of scoliosis. A respiratory function test revealed restrictive ventilatory impairment with a vital capacity of 1,720 ml (76.8% predicted). Electrocardiography showed normal sinus rhythm at 76 beats/min. Echocardiography indicated a normal left ventricular function and the absence of valvular diseases.\nBefore surgery, the anesthetic breathing circuit and soda lime canister were replaced and the vaporizers were removed from the Perseus A500 anesthetic machine (Drager, Lubeck, Germany), followed by flushing with 10 l/min air for 12 hours. Unopened vials of dantrolene were immediately available. The patient was not premedicated. Intraoperative monitoring included continuous electrocardiography, noninvasive blood pressure, and invasive blood pressure measured by an arterial line placed into the left radial artery, pulse oximetry, end-tidal carbon dioxide partial pressure measured with capnography, bispectral index, core body temperature measured by the 3M SpotOn temperature monitoring system (3M, St. Paul, Minnesota, United States), and acceleromyography at the left adductor pollicis muscle (Philips Intellivue NMT module; Royal Philips Electronics, Amsterdam, The Netherlands) and the right masseter muscle (TOF Watch SX; Organon, Dublin, Ireland). The setting for neuromuscular monitoring at the masseter is shown in Figure 1.\nAn epidural catheter was inserted at the Th6-Th7 interspace using the midline approach and the loss of resistance to saline technique. An initial epidural bolus test dose of 3 ml of 1% lidocaine was given after negative aspiration for blood and cerebrospinal fluid, followed by a pin-prick test that revealed sensory block at the Th3-Th6. General anesthesia was induced with propofol target-controlled infusion (TCI) set at 4.0 mug/ml and remifentanil of 0.25 mug/kg/min. After obtaining calibrated baseline train-of-four (TOF) ratios in the two neuromuscular monitoring devices (the adductor pollicis, 126% at a current of 50 mA; the masseter, 120% at a current of 30 mA), rocuronium was administered. Three minutes after the administration of 35 mg (0.63 mg/kg) of rocuronium, all four twitches disappeared in both of the neuromuscular monitoring devices at about the same speed. Videolaryngoscopy using a McGRATH MAC videolaryngoscope (Medtronic, Dublin, Ireland) revealed a Cormack-Lehane Grade I view of the larynx and the trachea was intubated easily with a size 35-Fr left double-lumen tube. After intubation, the patient was placed in the left lateral decubitus position and one-lung ventilation was started with the right-sided lumen open to ambient air.\nBefore the skin incision, 4 ml of 0.25% levobupivacaine was administered in a bolus through the epidural catheter. General anesthesia was maintained with propofol TCI set at 2.8-3.5 mug/ml, remifentanil of 0.1-0.15 mug/kg/min, and a bolus of fentanyl (total of 100 mug). An additional 5 mg (0.09 mg/kg) of rocuronium was administered 80 minutes after the first dose when the first twitch induced by TOF stimulation was observed at the left adductor pollicis. While the surgeon was closing the chest, a patient-controlled epidural analgesia infusion of 0.15% levobupivacaine (baseline infusion: 4 ml/h plus bolus doses of 3 ml; lockout period of 30 minutes) was initiated. The surgery was completed uneventfully 96 minutes after the incision. During the surgery, the core body temperature ranged from 36.1C to 37.3C and no diagnostic signs of MH were evident. After the surgery, the TOF stimulation gave four of four twitches with a TOF ratio of 36% at the left adductor pollicis and two of four twitches at the right masseter. Following the administration of 120 mg (2 mg/kg) sugammadex on the basis of the TOF response at the adductor pollicis, normalized TOF ratios at the adductor pollicis and the masseter recovered to greater than or equal to 90% in two minutes and four minutes, respectively. The patient was uneventfully extubated in the operating room and transferred to an ICU. The anesthesia record of the present case is shown in Figure 2. In the postoperative period, the patient showed no symptoms of MH or residual NMB. She had an uneventful postoperative course and was discharged to the general medical ward on postoperative day one and home on postoperative day seven.",
"gender": "Female"
}
] |
PMC10872652
|
[
{
"age": 12,
"case_id": "PMC10904206_01",
"case_text": "A 12-year-old girl was taken to her trusted pediatrician, complaining of lower abdominal and right iliac fossa pain associated with vomiting. No fever, chill, urinary symptoms, or diarrhea was reported. Her past medical history was unremarkable, and she did not have any history of menstruation, had undergone thelarche at age 10, and had adrenarche at age 11. Blood count, ESR, and CRP were normal, and a diagnosis of mild appendicitis was made. In the following days, the pain gradually increased in severity and the young patient underwent abdominal ultrasound which revealed the presence of a cyst with mixed echogenicity with a diameter of 6 x 4 cm, located in the midline of the pelvis with minimal free fluid. Collaterally, the sonographer reports that he is unable to highlight the uterus, while the organs of the upper abdomen are normal. The torsion of an ovary containing a cystic formation is therefore suspected. A surgical consultation was requested, and the patient is admitted to our institution. On physical examination, appearance and anxiety evidenced that the adolescent was in obvious pain. Abdominal examination revealed a treatable abdomen, with rebound pain and normal bowel sounds. Her external genitalia were normal. A pelvic examination with a cotton swab revealed a blind terminal vagina, 1 cm deep. Rectal examination revealed the presence in the pelvis of a tense elastic mass, painful on mobilization, about 6 cm in diameter, without any blood in the stool. Given the clinical picture, a prompt surgical exploration was decided rather than repeat subjecting the patient to an MRI or other imaging. Laparoscopy confirmed the right ovarian torsion with the tube. Her ovary was rotated 180 (2 full turns). Ovarian tissue still appears viable and has a normal appearance. The uterus was absent, and in its place were two small-volume rudimentary horns, apparently not cavitated, joined by a horizontal fibrous band that separated the bladder from the Douglas cavity (Figure 1). The right ovary and tube were successfully untwisted. The functional cyst contained in the ovary was enucleated, and the ovarian parenchyma was gently coagulated and finally fixed to the right pelvic sidewall. There were no surgical complications, and the patient recovered quickly and fully after surgery. The result of pathology reported a simple cyst of the right ovary. During follow-up, the examinations revealed a normal anatomy of the spines and a 46,XX karyotype of the patient.",
"gender": "Female"
}
] |
PMC10904206
|
[
{
"age": 38,
"case_id": "PMC11343632_01",
"case_text": "This is a 38-year-old female with no significant past medical history or family history who presented to the emergency department for lightheadedness for 3 weeks. Peripheral blood smear shows red blood cells with polychromasia and anisopoikilocytosis. Leukocytosis with absolute neutrophilia, monocytosis, and basophilia were noted. A shift to immaturity was seen with the neutrophils, including myelocytes, promyelocytes, and rare blasts suspicious for CML.",
"gender": "Female"
}
] |
PMC11343632
|
[
{
"age": 68,
"case_id": "PMC10598042_01",
"case_text": "I In November 2021, a 68-year-old Caucasian female with a history of type-2 Diabetes Mellitus, Bronchial Asthma, and liver transplantation came to our outpatient facility due to increased dyspnea and cough in the previous months.\nThe patient had developed a Liver Cirrhosis after contracting Hepatits C Virus during her youth, with subsequent Chronic Liver Failure - which had brought her to transplantation in 2015; the patient had been in therapy with tacrolimus since then.\nThe patient started experiencing asthma related symptoms during her fourth decade, and they had worsened in the last five years. She reported three acute exacerbations in the last twelve months and daily usage of prednisone 12,5 mg for over six months. She also exhibited two blood cell counts (September 2020 and May 2021), which showed absolute Eosinophil counts of 567 cells/mm3 and 623 cells/mm3 respectively.\nAt the physical examination the patient was slightly tachypneic at ease. Peripheral Oxygen Saturation was 95 %. At the auscultation of the thorax, expiratory wheezing and ronchi were present.\nIn the suspect of SA, we decided to admit her to Day Hospital in order to perform further evaluations.\nAt admission, we ran a complete panel of blood tests, parasitological stool analysis, a chest radiography, and a complete lung function assessment.\nLaboratory data at admission are summarized in Table 1. In particular, she had an absolute Eosinophil count of 320 cells/mm3 and a Tacrolimus blood concentration of 3 ng/mL, which was within the reference values (Table 2).\nIn order to exclude other underlying causes of blood eosinophilia, a parasitological stool analysis was performed on three different samples collected in three different days.\nChest Radiograph showed hilar congestion and central peribronchial cuffing (Fig. 1).\nAt the spirometry a partially reversible obstructive syndrome was detected as well as a slight reduction in lung diffusion. No pathological findings were reported in the 6-min walking test and arterial blood gases. Fractional exhaled Nitric Oxyde (FeNO) resulted pathologically increased (reference value: <25 ppb).\nAstma Control Test (ACT) and Asthma Control Questionnaire-5 (ACQ5) were also performed.\nLung Function Assessment values are reported in Table 2.\nWe confirmed our suspect of SA and considered treatment with Mepolizumab 100 mg. We also decided to run a Lymphocytes Subset Count before starting treatment, in order to verify whether it were affected by the administration of the drug. We decided to repeat the assessment at different timepoints, as shown in Table 2.\nAfter the first injection, the patient reported no local side effects and was kept on observation for 2 h. She was discharged with the indication of administrating Mepolizumab every 28 days regularly and a tapering of her OCS intake until complete suspension three weeks later.\nThe patient entered a follow-up which consisted of new visits and lung function assessments at 3, 6 and 12 months.\nAt three months, the patient reported a significative improvement of the asthma-related symptoms. Moreover, there was an improvement in lung function assessments and asthma questionnaires.\nWe monitored the blood concentration of tacrolimus, which remained withing the range of safety and efficacy. Such results were still present at 6 and 12 months. No acute exacerbation was reported.",
"gender": "Female"
}
] |
PMC10598042
|
[
{
"age": 54,
"case_id": "PMC10905200_01",
"case_text": "In this case study, we delve into the complex medical journey of a 54-year-old male patient, navigating a maze of clinical challenges that encompass hypercalcemia, pulmonary anomalies, and chronic kidney disease (CKD). This intricate case highlights the interplay of various medical conditions and emphasizes the critical role of a systematic and interdisciplinary approach in both diagnosis and management.\nThe patient's admission was prompted by an alarming discovery during routine laboratory investigations: notably elevated calcium levels. A comprehensive review of his medical history revealed a backdrop of stage IV CKD and a history of hypertension. These underlying health concerns immediately cast a spotlight on the intricate nature of the case. Adding to the complexity, the patient had experienced a dramatic and unintended weight loss of 30-50 pounds within a remarkably short timeframe. Upon admission, the patient's demeanor was notably composed, appearing alert and generally well. A thorough physical examination did not immediately reveal any acute distress or overt symptoms. However, a closer examination of the laboratory results painted a more nuanced picture. The presence of hypercalcemia, with a calcium level measuring 14.8, was conspicuous. This was accompanied by elevated creatinine levels (4.00) and hyperglycemia (glucose level: 149), adding layers of intricacy to the patient's clinical profile. Importantly, anemia, characterized by a hemoglobin level of 12.8, and hyponatremia (sodium level: 133) further deepened the diagnostic challenge.\nGiven the multifaceted presentation and the intricacy of the clinical challenges, a collaborative and multidisciplinary diagnostic approach was deemed essential. Experts in nephrology and pulmonology were enlisted to unravel the intricate web of medical complexities that this case presented. Nephrologists were consulted to ascertain the feasibility of a kidney biopsy, while pulmonologists embarked on a thorough investigation to uncover the underlying cause of the observed cavitary lung lesion. The patient's complex presentation prompted a meticulous examination of laboratory findings. The detection of positive cocci IgG antibodies pointed towards the involvement of an infectious agent. However, a bone marrow biopsy provided some relief by ruling out malignancy as an underlying cause. Notably, the renal biopsy introduced an entirely new dimension to the case, with findings suggestive of glomerulonephritis (Figure 1).\nThroughout this diagnostic process, consistently elevated levels of angiotensin-converting enzyme (ACE) and persistent hypercalcemia continued to underscore the presence of ongoing systemic inflammation. Bronchoscopy emerged as a crucial diagnostic tool in the pursuit of understanding the patient's pulmonary health. While the examination of the airways revealed normal findings, the discovery of bilateral hilar lymphadenopathy raised questions regarding the potential extent of lung involvement (Figure 2). In an attempt to shed light on the origin of the cavitary lung lesion, multiple needle biopsies were meticulously conducted on both right and left hilar lymph nodes. They identified a typical pattern of noncaseating granulomas without necrosis, with clustered, well-demarcated lymph nodes. Right and left paratracheal lymph nodes and subcarinal lymph nodes were visible.\nThe intricacies of the patient's clinical scenario demanded a holistic and multifaceted management strategy. The convergence of factors, including cocci infection, cavitary lung lesion, sarcoidosis, CKD, and hypercalcemia, necessitated tailored approaches to address each facet of the patient's condition. Corticosteroid therapy emerged as a promising avenue to tackle sarcoidosis, while antifungal interventions were initiated to combat the cocci infection. The management of this case extended beyond mere medical interventions. It encompassed vigilant monitoring and personalized patient care. Given the complexity of the patient's renal function, continual assessment was imperative. Additionally, the complications stemming from hypercalcemia necessitated meticulous oversight, and the patient's significant weight loss prompted recommendations for dietary supplementation once his oral intake returned to a more normal course.",
"gender": "Male"
}
] |
PMC10905200
|
[
{
"age": 42,
"case_id": "PMC10893909_01",
"case_text": "We present the case of a 42-year-old Caucasian female with a past medical history of SPS, migraines, systemic lupus erythematosus (SLE), Sjogren's syndrome, and a past psychiatric history of anorexia, depression, and anxiety. There was no history of suicide attempts. Her social history revealed she is a divorced woman with a master's degree level of education who lives alone, separate from her children. In addition, social history revealed that the patient smokes marijuana two to three times a week.\nThe patient presents with left-sided chest pain described as pressure that radiates to the left jaw and down the left arm with a 6/10 on the pain scale. The pain intensifies with deep breaths. She denies fever, chills, nausea, or vomiting. Additionally, she experiences numbness, paresthesias, and a presyncope feeling, with occasional incontinence during these episodes. The symptoms last for about an hour, and the patient reports a recurring sensation of feeling \"like I am going to die.\" Vital signs on presentation were within normal limits, D-dimer was elevated at 1104, computed tomography (CT) angiography was negative for pulmonary embolism or dissection, and troponin I and creatine kinase were normal. A urine toxicology screen was positive for benzodiazepines and cannabinoids. Electrocardiogram testing showed T-wave inversions in the inferior and lateral leads (Figure 1).\nCardiovascular etiologies, including acute coronary syndrome, were ruled out with a normal echocardiogram and computerized tomography coronary angiogram. However, the patient continued to complain of intermittent chest pain. She subsequently developed left-sided paresthesia and presyncope, leading to a neurologic evaluation that returned negative results for electroencephalogram (EEG), magnetic resonance imaging (MRI), and normal carotid studies. The patient was continued on the home medication duloxetine, clonazepam, and intravenous immune globulin (IVIG) for SPS. She was provided with, prior to admission, trazodone for anxiety and insomnia, tramadol for pain, and topiramate for migraines. Amphetamine/dextroamphetamine was held. The patient's list of home medications is detailed in Table 1.\nHer neurological symptoms improved. But on day three of hospitalization, her hospital course was complicated by the onset of delusions, paranoia, and auditory hallucinations, necessitating psychiatric evaluation and treatment. She was diagnosed with psychosis of an unspecified type. She demonstrated resistance to the proposed psychiatric care plan, which consisted of continuing trazodone, starting aripiprazole for psychosis, and having a one-on-one sitter for constant observation. The patient selectively declined aripiprazole while consenting to her other medications.\nAfter internal medicine clearance, her psychosis, danger to herself, inability to care for herself due to mental illness, and the need for psychotropic medication stabilization necessitated a transfer to the behavioral health unit (BHU). The mental status examination revealed delusional and paranoid thought content, accompanied by auditory hallucinations, as detailed in Table 2.\nIn the BHU, she remained uncooperative, refrained from group therapies, and continued to display signs of psychosis. Six days later, she was readmitted to the medical floor for new-onset left facial numbness and otalgia accompanied by tinnitus, of unclear etiology. She was subsequently treated for a urinary tract infection (UTI), following positive leukocytes detected in her urinalysis results. Her headache management was escalated with valproate 250 mg BID, along with the continuation of topiramate. \nThroughout her second inpatient stay on the medical unit, the patient received regular IVIG treatments for SPS, completing a dose of 60 grams. Despite extensive workup, which included repeat CT brain, B12 and folate levels, and Lyme antibodies, her neurological symptoms were deemed non-specific and resolved. She was transferred, about one week later, back to the BHU for continued psychiatric care due to ongoing psychosis.\nUpon re-evaluation at the BHU, the patient appeared calm, oriented and engaged. She denied any current suicidal or homicidal ideation, intent, or plan and reported no hallucinations, paranoia, or delusions at the time of examination. However, the patient exhibited a paranoid thought process and minimized her behaviors.\nA psychiatric review of the systems revealed intermittent episodes of anxiety and low mood without the full spectrum of depressive symptoms. She did not report any manic symptoms at the time of the evaluation. Her diagnosis on admission was unspecified psychosis. The differential diagnoses included major depressive disorder (MDD), single episode, severe, with psychosis, and cannabis-induced psychosis. MDD, single episode, severe, with psychosis, was ruled out due to a lack of depressive symptoms. While cannabis-induced psychosis, although not likely, due to the patient's psychotic symptoms being present for about one month in the absence of marijuana use, could not be conclusively ruled out.\nA comprehensive review of the patient's medical record demonstrated that the patient has a history of manipulative behaviors, such as feigning ignorance and diverting topics, coupled with a guarded attitude regarding her paranoid delusions. Additionally, she faces multiple psychosocial stressors, including an ongoing custody battle and an order of protection from her ex-husband. Despite contracting for safety and agreeing to comply with treatment, during admission, collateral reports raised significant concerns for her safety, believing that the patient was a danger to herself.\nAlthough the patient had no psychiatric history of psychosis and was not on any antipsychotics prior to this hospital course, collateral information indicated that the patient's delusions sometimes led her to engage in unsafe behavior, such as dismantling light fixtures and inserting a tweezer inside to search for hidden cameras that she believes are being used to spy on her. Due to collateral accounts and recent unsafe behaviors observed on the medical floor, such as the patient leaving her room to search for family members outside visiting hours, a precautionary measure of 15-minute safety room checks was implemented for the patient.\nThe treatment plan involved the continuation of aripiprazole 5 mg, which the patient agreed to after initial refusal, management of anxiety and insomnia with trazodone 50 mg, ongoing treatment of SPS with IVIG, duloxetine 30 mg, and clonazepam 2 mg, and treatment of migraines with topiramate 200 mg. Her UTI was addressed with a course of levofloxacin 500 mg.\nSubsequently, after ten days of in-patient treatment, she improved. The patient was discharged home in stable condition with resolved psychosis, as outlined in Figure 2. Outpatient follow-up and medication adherence were emphasized in the discharge treatment plan.",
"gender": "Female"
}
] |
PMC10893909
|
[
{
"age": 69,
"case_id": "PMC10828744_01",
"case_text": "A 69-year-old female patient was referred to the eye clinic by her primary care physician because of a longstanding issue of redness and eye irritation, with suspicion of Sjogren's disease. The patient had experienced periods of exacerbation in symptoms and red eye, for which she had been prescribed topical antibiotics due to suspicion of bacterial conjunctivitis. There was no prior record of the patient having visited the eye clinic. Additionally, the patient had been using artificial tears and lubricant gels regularly but had not experienced the desired improvement in her condition.\nDuring the initial assessment conducted at the eye clinic by a junior ophthalmology resident physician, dry eye disease was suspected in the patient. This suspicion arose due to the patient having a borderline tear break-up time (TBUT=9 seconds), despite a normal Schirmer test I result. Consequently, the patient was prescribed a three-week course of mild preservative-free corticosteroid eye drops. Unfortunately, there was minimal to no subjective or objective improvement following this treatment.\nDuring a subsequent follow-up visit by a senior physician, several concerning findings were observed in the patient's eye examination. These included the presence of collarets at the base of the eyelashes, thickening, and irregularity of the eyelid margins, the presence of concretion cysts in the palpebral conjunctiva, limbal pannus formation, and signs suggesting potential previous episodes of marginal keratitis. Furthermore, the patient exhibited telangiectasia on the malar area and nose. These clinical observations concluded that the patient's symptoms were likely attributed to ocular rosacea with blepharitis (Figure 1).\nThe patient received guidance on minimizing aggravating factors, which included recommendations to avoid spicy foods, alcohol, prolonged exposure to sunlight, and excessive heat, as well as specific cosmetics and soaps. Management of the condition involved adhering to a regular eyelid hygiene routine using eyelid wet tissues and warm eye compresses. To further facilitate understanding, the clinic provided a handout that visually depicted the correct technique.\nAdditionally, the patient experienced localized palpable discomfort at the location of a sizable concretion cyst, which was subsequently incised and drained. To address potential photosensitivity during the summer season and better tolerance, an alternative oral antibiotic (azithromycin) was prescribed for the patient's rosacea treatment.\nThe severity of ocular surface disease was evaluated using the Ocular Surface Disease Index (OSDI) and vital dye staining. Before treatment, the ocular staining score, determined through Lissamine green staining of the bulbar conjunctiva, was 2, but it decreased to 0 in the three-month follow-up. The corneal fluorescein staining pattern score was already 0 before treatment, indicating the absence of punctate epithelial erosions (PEEs).\nThe patient's subjective experience, including the frequency and severity of symptoms, was assessed using the Standard Patient Evaluation of Eye Dryness (SPEED) Questionnaire, which decreased from an initial score of 16 to 7 out of 28. Additionally, the OSDI score decreased from 23 (indicating moderate severity in the range of 23-32) to 15 (indicating mild severity in the range of 13-22) out of 100.",
"gender": "Female"
}
] |
PMC10828744
|
[
{
"age": 2,
"case_id": "PMC10619340_01",
"case_text": "Fourteen female patients were included in our study, with a mean age of 45.2 years old (ranging from 23 to 78). Tables 1 and 2 provide an overview of the clinical and paraclinical features observed in these patients. Symptoms onset was sudden in 9 patients, presenting with fever and chills. Purpura was observed in 3 cases, while hepatomegaly and splenomegaly were respectively noted in 6 and 5 cases. Peripheral lymphadenopathy was present in only 1 case. Five cases exhibited hemorrhagic complications, such as gingivorrhagia and epistaxis. All patients had a biological inflammatory syndrome, with a median CRP of 126 mg/L (ranging from 63 to 320). On the complete blood count, 11 patients had pancytopenia, and 3 cases exhibited bicytopenia. Disturbances in the hepatic cytolysis type balance sheet were observed in 10 patients, accompanied by increased lactico-dehydrogenases. Hypertriglyceridemia was present in 9 cases, and hyperferritinemia was observed in all cases. Two cases exhibited hypothyroidism.\nWe identified renal impairment in a total of 11 cases. Out of these cases, 5 were specifically attributed to chronic kidney disease (CKD). Among the CKD patients, 2 patients were undergoing hemodialysis. Two cases of CKD were found to be associated with lupus nephritis (LN). We observed 1 case of CKD linked to Rheumatoid arthritis. Acute kidney injury (AKI) was present in 6 patients, with 5 showing signs of lupus flare, while the remaining case occurred in the context of pre-eclampsia. According to the AKIN classification, 1 case was categorized as the first stage risk, and 4 cases were classified as the second stage of AKIN for LN flare. The pre-eclampsia case was classified as stage 3 AKI.\nEleven patients underwent sternal puncture (SP), which revealed evidence of hemophagocytosis (HP) in 10 cases. In one case, SP was not feasible due to the severity of the hemorrhagic syndrome, and no evidence of HP was present in the last 2 myelograms. Table 2 provides detailed information on the different treatments administered to the patients. Unfortunately, 9 patients passed away, 2 of whom progressed to septic shock despite appropriate antibiotic therapy. Respiratory distress led to the deaths of 3 patients, neurologic complications led to 2 deaths, and the last patient died due to hemorrhagic syndrome secondary to disseminated intravascular coagulation. Notably, 1 patient died due to anaphylactic shock to Glucantime (Table 2).",
"gender": "Female"
}
] |
PMC10619340
|
[
{
"age": 62,
"case_id": "PMC10976979_01",
"case_text": "The authors present a case of a 62-year-old female patient with a 10-year history of progressive enlargement of the third digit of the left hand presenting to the orthopedic surgeon appointment. The patient did not recall any significant trauma or other medical conditions related to the development of the finger deformity. She reported no significant pain or functional limitations.\nRadiographic examination of the hands revealed volumetric enlargement of the proximal, middle, and distal phalanges of the third digit of the left hand and adjacent soft tissue swelling. Additionally, degenerative changes were observed in the interphalangeal and metacarpophalangeal joints, including marginal osteophytes, subchondral sclerosis, and joint space reduction, most prominent in the proximal and distal interphalangeal joints (Figure 1). Further investigation included magnetic resonance imaging (MRI) of the left hand and wrist (Figure 2).\nBased on the clinical presentation, radiographic, and MRI findings, a diagnosis of macrodystrophia lipomatosa (ML) was assumed. The patient was informed about the available treatment options, including surgical intervention, but declined to undergo surgery.",
"gender": "Female"
}
] |
PMC10976979
|
[
{
"age": 74,
"case_id": "PMC10959325_01",
"case_text": "A 74-year-old man was admitted to hospital with cough and chest tightness for one month. He complained of a cough with no obvious cause in the past month, which intensified into paroxysms, coughing up pus sputum, accompanied by chest tightness, shortness of breath, dyspnea, hemoptysis, and sometimes blood in the sputum. He had not had autoimmune diseases in the past, and he denied prior familial history of autoimmune diseases. After the computed tomography (CT) scan of the chest (Figure 1A), lesions biopsy by electronic bronchoscopy (Figure 2A) and positron emission tomography (PET)/CT scan (Figure 2B), he was diagnosed with limited-stage SCLC. The results of laboratory tests, including anti-Scl-70 antibody, anti-centromere antibody, anti-RNA polymerase III antibody, anti-neutrophil cytoplasmic antibody, anti-myeloperoxidase (MPO) antibody, anti-glomerular basement membrane (GBM) antibody, anti-Smith (Sm) antibody, anti-SSA antibody, anti-SSB antibody, anti-dsDNA antibody and anti-histidyl tRNA synthetase (Jo-1) antibody were all negative. Besides, the anti-nuclear antibody titer was 1:100 and the patient's eosinophils were 0.22*109/L. Due to the lack of surgical opportunity, he received chemotherapy plus immunotherapy. According to the treatment guidelines for SCLC, he underwent five cycles of cisplatin (130 mg/m2) plus etoposide (100 mg/day) in combination with durvalumab (1000 mg/day). After the combination therapy of chemotherapy plus immunotherapy, he was treated with ten cycles of maintenance therapy with durvalumab from July 2021 to April 2022. However, the patient gradually felt slight swelling and tightness of the skin on his trunk and limbs accompanied by skin itching after ten cycles of durvalumab maintenance therapy (Figure 3). Besides, he had difficulty swallowing, but no Raynaud's phenomenon. Therefore, maintenance therapy with durvalumab was suspended owing to these clinical manifestations. Afterwards, he received routine anti-allergy treatment during his hospitalization, but there was no relief of skin symptoms after the anti-allergy treatment. During hospitalization, according to the opinion of the dermatologist, he underwent a skin biopsy. After skin biopsy of the lesion on the right abdomen, histopathologic examination was reported as systemic sclerosis (Figure 4). At the time of discharge, he was instructed to take oral prednisone acetate tablets 40 mg daily with a weekly dose reduction of 5 mg. One month later, he felt that the skin stiffness of his extremities was better than before, but the skin of neck, chest, back, and abdomen was still stiff. Therefore, he was admitted to the rheumatology department, where he received intravenous hydroprednisone (40mg/d). During hospitalization in rheumatology department, the results of laboratory tests, including erythrocyte sedimentation rate (ESR) was 28mm/h, C-reactive protein (CRP) was 11.4mg/L, decrease in complement C3 and anti-nuclear antibody titer was 1:320. In addition, anti-Scl-70 antibody, anti-centromere antibody, anti-RNA polymerase III antibody, anti-neutrophil cytoplasmic antibody, anti-MPO antibody, anti-GBM antibody, anti-Sm antibody, anti-SSA antibody, anti-SSB antibody, anti-dsDNA antibody and anti-histidyl tRNA synthetase (Jo-1) antibody were all negative. The patient's eosinophil count was 0.16*109/L. Esophageal manometry suggested that the patient had esophageal motor disorders. The rheumatologist considered that the patient can be diagnosed as diffuse cutaneous systemic sclerosis and the digestive tract had been affected. Therefore, he was advised to take oral mycophenolate mofetil (MMF) dispersible tablets 0.5 g twice daily plus prednisone acetate tablets 20 mg once daily, and the dose was reduced to 15 mg daily after half a month.\nFortunately, according to the CT scan (Figure 1D), there was no progression of cancer after the end of immune maintenance treatment. After regular oral prednisone treatment, the patient's systemic sclerosis is now under control, but the skin of the trunk is still hard and tight, and the patient still has dysphagia. Even though SCLC is an extremely aggressive neuroendocrine tumor, characterized by rapid growth and early metastasis. There is no recurrence or metastasis of the primary tumor after the administration of chemotherapy plus immunotherapy during regular follow-up (Figure 1E and F), though this patient had been diagnosed with SCLC for more than two years.",
"gender": "Male"
}
] |
PMC10959325
|
[
{
"age": 70,
"case_id": "PMC10873516_01",
"case_text": "A 70-year-old woman presented to the ophthalmology clinic following an emergency department admission for a bulge near her left lower lid (LLL) along the nasojugal fold area for one week with no associated pain, discharge, or recent trauma (Figure 1).\nShe had preserved extraocular motion, stable visual acuity, and no diplopia or conjunctival injection. The patient had no previous face, head, or neck surgeries. Significant ophthalmological history included dry eyes, laser-assisted in situ keratomileusis (LASIK), physiological anisocoria, and combined forms of age-related cataracts of both eyes. Significant examination findings included a prominent inferior angular vein on the left side and oval dilation of the left pupil without any ptosis or afferent pupillary defect with full extraocular motility. Vision and intraocular pressures were normal, and the patient had an unremarkable dilated fundus exam. A maxillofacial computed tomography (CT) scan with contrast revealed angular venous thrombosis of unknown acuity with an abrupt diminishment in the caliber of the superior palpebral vein and dilatation of the facial vein inferiorly (Figure 2).\nAn incidental finding of the retropharyngeal course of carotid arteries was also noted. The CT was negative for dilatation or thrombosis in the communicating danger zone or intraocular veins, including the lacrimal vein, superior ophthalmic vein, or cavernous sinus (Figure 2).\nUltimately, the diagnosis of left-sided angular venous thrombosis was made based on the CT findings. Laboratory studies of angiotensin-converting enzyme, serum lysozyme, syphilis immunoglobulin (Ig) G and IgM, anti-nuclear antibody screen, anti-neutrophil cytoplasmic antibody screen, sedimentation rate, c-reactive protein, rheumatoid factor, complete blood count with differential, complete metabolic panel, and lipid panel were all ordered and were unremarkable. The thrombophilia panel included prothrombin time, international normalized ratio, and activated partial thromboplastin time, which were all normal. The extensive thrombophilia panel could not be completed due to a lack of follow-up. Upon referral to vascular surgery, it was determined the patient did not need acute surgical intervention and should continue aspirin (81 mg) daily.\nA follow-up of six months was made to check the patient's eyelids, motility, and pupils, but the patient was lost to follow-up. The patient was advised to present to the emergency department if any changes in visual acuity, acute-onset diplopia, eye pain, or worsening of swelling were to occur.",
"gender": "Female"
}
] |
PMC10873516
|
[
{
"age": 4,
"case_id": "PMC10474799_01",
"case_text": "Patient information: a forty-four-year-old gravida 3 para 2 North African woman at 34 weeks of gestation presented at our Emergency Unit complaining of heavy abdominal pain and a protruding right abdominal mass, reporting perception of fetal movement limited to the contralateral, left, abdominal side.\nClinical findings: the patient had already been admitted at our Maternity Hospital at 32 weeks of gestation with painful uterine contractions; ultrasound (US) evaluation revealed the presence of a single, right-round ligament leiomyoma of 25 x 20 centimeters with a left-side uterine and cervical dislocation. She was under labetalol for chronic hypertension and low dose ASA for high risk of preeclampsia at the first trimester screening.\nDiagnostic assessment: she underwent tocolysis and fetal lung maturation and was dismissed. Elective cesarean section was planned at 36 weeks of gestation, given the position of the leiomyoma. At second admission the leiomyoma was much larger than at 32 weeks. Fetal growth and movements were normal at US. Amniotic fluid index was 7 cm. There was no associated vaginal bleeding. She tested positive for SARS-CoV-2 nasopharyngeal swab and tested negative after seven days. She was therefore hospitalized for caution. On first day of hospitalization, a second level ultrasound examination confirmed the presence of a 30 x 20 x 18 centimeters right-round ligament leiomyoma, with complete dislocation of the uterus from the pelvis towards the left upper abdominal quadrant, just underneath the left hemithorax.\nDiagnosis: her case was discussed on a multidisciplinary level, with obstetric surgeons, expert ultrasonographists and anesthesiologists, and the decision of intra-cesarean myomectomy was taken; cesarean hysterectomy appeared to be likely either for massive hemorrhage or for uterine anatomical distortion. Informed consent was obtained for these procedures by the patient, who expressed the will for tubal ligation.\nTherapeutic interventions: on the due day, at 36 weeks of gestation, her heart rate was 94 beats per minute, blood pressure was 135/85 mmHg. No uterine contractions were registered at the preoperative cardiotocography nor in the preceding days. Vaginal examination depicted a non-dilated nor effaced cervix; evaluation of the presenting part was not possible due to the obstructing leiomyoma. Her preoperative hemoglobin was 11,8 gr/dL, hematocrit was 38.2%, PCR 0.77 mg/dL and she had regular coagulation tests; her blood group was 0 positive. Adequate blood products were arranged. General balanced anesthesia was induced, and the patient was intubated. Abdominal access was obtained with an infra-umbilical bisiliac incision of 20 cm. Fascial planes were developed up to the umbilicus on both sides. On peritoneal opening, the abdomen was entirely occupied by the fibroid mass whereas the uterus was left- and upward-rotated to the splenic lodge and therefore not accessible for safe hysterotomy. The decision of exteriorization of the gravid uterus was taken. The uterus was initially mobilized even more toward the left-thorax, in order to liberate and exteriorize the uterine mass. Exteriorization of the gravid uterus was then possible with care taken on left-round ligament tension (Figure 1). These maneuvers were performed with continuous feedback on hemodynamic changes by anesthesia. A vertical, corporal, uterine incision was performed, and a 3.1 kg male baby was delivered. 1-minute-delayed umbilical clamping was performed. APGAR score at 1 and 5 minutes was 9 and 10. After assisted placental expulsion, the uterine wound was closed with a monofilament suture. As the mass was bulging into the incision line and heavily distorting the anatomy of the uterus, planned myomectomy was confirmed. We started by dissecting the right round ligament and opening of the anterior leaflet of the broad ligament to liberate the mass (Figure 2). Careful fibroid enucleation was performed with bipolar forceps after identification of the right ureter. Myomectomy was completed after preparation and dissection of the vascular pedicle of the mass, on the right side of the uterine isthmus. A complete hemostasis was achieved. On surgical gross examination, the uterine anatomy could not be reckoned, and heavy intramural right hemorrhage was evident. Total hysterectomy was then performed along with bilateral salpingectomy as for the will of the patient. The total duration of surgery was 113 minutes, the amount of blood lost was around 700 mL. Broad spectrum antibiotics were administered in the postoperative days.\nFollow-up and patient perspective: her post-surgery hemoglobin was 8.7 gr/dL and the hematocrit was 28%. The patient and her baby were dismissed from the hospital after 4 days, in good clinical conditions, relieved and satisfied with her experience. On histologic examination of the uterus, multiple necrotic and hemorrhagic foci were identified at implantation site of the tumor; the mass was described as a \"giant\" leiomyoma of 6.7 kg and 28 x 11 x 13 centimeters (Figure 3), with extensive areas of edema and inflammation; the tubes were found to be both invaded by inflammatory cells (Figure 4).\nInformed consent: the patient gave her consent to analysis and description of her case for scientific purposes.",
"gender": "Female"
}
] |
PMC10474799
|
[
{
"age": 66,
"case_id": "PMC11006963_01",
"case_text": "A 66-year-old Asian female presented with six-year history of lower back pain (Figure 1), which had exacerbated over the past three weeks, radiating to her right buttock and thigh. She also reported a recent onset of bladder and bowel dysfunction. Physical examination noted hyperesthesia in the lower back, right buttock and posterior thigh, with hypoesthesia on the sole of her left foot. Muscle strength and reflexes were found to be normal.\nLumbar MRI revealed an intradural septate cystic mass located at the T12-L1 level (Figures 2A,B). The cyst was separated by a thin septum and presented a similar intensity of cerebrospinal fluid (CSF). Additionally, a small nodular lesion was located on the posterior wall of the cyst, which was isointense on both T2 and T1-weighted images. After gadolinium administration, the nodule exhibited strong homogenous enhancement and the cystic wall was also homogeneously enhanced (Figures 2C-E). No signs of syringomyelia or adjacent spinal cord edema were observed. These imaging features led to an initial diagnostic consideration of a cystic hemangioblastoma.\nThe patient underwent posterior T12-L1 laminectomy. The dura was opened paramedially, exposing an intradural soft blister-like mass with cyst formation at the conus medullaris (Figures 3A,B). The tumor had an abundant blood supply and was tightly adhesive to the surrounding tissues. The cyst was drained, and the feeding vessels were coagulated and cut, followed by en-bloc resection of the tumor (Figure 3C).\nPathological examination showed a lobular arrangement of numerous, tightly packed, capillary-sized vessels, confirming the diagnosis of a capillary hemangioma (Figure 3D). The patient's postoperative course was uneventful, with a repeated contrast-enhanced MRI conducted three days postoperatively confirmed the gross total resection of the tumor (Figure 2F). At a follow-up visit ten months later, the patient reported complete resolution of previous symptoms and no new complaints, demonstrating the effectiveness of the surgical intervention.",
"gender": "Female"
}
] |
PMC11006963
|
[
{
"age": null,
"case_id": "PMC11363833_01",
"case_text": "Early 50's male was admitted to the Emergency Department on the one of Autumn day in 2022 due to new-onset tonic-clonic seizure episode and disorientation. The patient did not have any comorbidities but had a history of alcohol abuse. In the past, he had a head injury, which resulted in moderate hearing loss and anisocoria. Before admission, the patient consumed alcohol in large quantities.\nOn physical examination, he was disoriented, non-febrile, his blood pressure (BP) was 151/88 mmHg, heart rate (HR) 92 bpm, Glasgow Coma Scale (GCS) of 11, horizontal nystagmus and anisocoria (R>L) were observed, finger-nose test was negative. A few scabs were observed on his shins. The rest of the physical examination was unremarkable. Blood test results showed a white blood cell count 8.6 x 109/l (88 % neutrophils) and CRP 236 mg/l. In cerebrospinal fluid (CSF), a pleocytosis as high as 15,197 leucocytes x106/l was detected with the predominance of polymorphonuclears up to 88.4 %, total protein 7.6 g/l, lactate 19.7 mmol/l, glucose 0.6 mmol/l (blood glucose level 8.00 mmol/l). Other lab test results are presented in Table 1. Two sets of blood cultures and CSF culture were taken. No abnormal findings were detected on the head CT scan.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC11363833_02",
"case_text": "Subsequently, the general condition of the patient started to worsen rapidly: he became agitated, and aggressive, had generalized tremors and sensible contact was lost (GCS of 8 points). The patient developed hypotension (BP 71/50 mmHg) and acute respiratory failure, became febrile (39 C), therefore was transferred to the intensive care unit and was treated empirically with ceftriaxone, ampicillin, dexamethasone, infusion therapy, and vasopressors. When respiratory failure progressed, the patient was intubated. Repeated blood cultures were taken on the second day of the treatment.\nAfter two days Streptococcus suis, susceptible to penicillin and erythromycin, was isolated from CSF and blood cultures (the causative agent was identified in two bottles from different sets). The pathogen was grown in pure culture and identified with matrix assisted laser desorption ionization coupled to time-of-flight (MALDI-TOF) mass spectrometry. Later blood cultures came negative. However, therapy with ceftriaxone was continued, as CRP increased up to 325.8 mg/l (Table 1) and no clinical improvement was observed. On the 7th day of the hospitalisation, the patient's clinical condition started to improve, he became fully conscious, was extubated, and his inflammatory markers started to decrease (Table 1). Brain CT scan was repeated but no abnormal lesions were detected (Fig. 1). Abdominal and heart ultrasounds did not show any significant alterations.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC11363833_03",
"case_text": "The patient was transferred to the Department of Infectious Diseases, where antibiotic therapy with ceftriaxone was continued. The patient started rehabilitation for persisting ataxia and an unsteady gait. The patient was evaluated for risk factors for the S. suis infection: he denied eating raw pork, but ate homemade pork dishes; the patient lives in the countryside but did not have any contact with domesticated or wild animals, nevertheless sometimes helps farmers with non-pig-related work. While continuing the treatment the elevation of repeated inflammatory markers was observed (Table 1), but no other cause, except ongoing S. suis infection, was identified. Inflammatory markers decreased by continuing ceftriaxone therapy. Audiometry was performed and showed moderate symmetrical bilateral neurosensory hearing loss, but the patient denied any change in hearing, therefore the changes were attributed to the previous head trauma (Fig. 2).",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC11363833_04",
"case_text": "The patient received combined antibacterial treatment with ceftriaxone + ampicillin for 5 days, followed by 15 days of ceftriaxone therapy. On discharge, the patient's gait and ataxia significantly improved, and he did not have any physical or cognitive complaints. The patient did not show for the follow-up visit, but family members, contacted by phone a few months after discharge, claimed, that he is not abusing alcohol anymore and does not feel any change in hearing. One year later after infection, the patient had an ischemic stroke in ACM sin. basin, but even before the stroke the patient became forgetful, started to show symptoms of cognitive impairment, and was being investigated for early-onset dementia. Cognitive impairment could likely be a long-term sequel after S.suis meningitis combined with unhealthy lifestyle choices before the disease.",
"gender": "Male"
}
] |
PMC11363833
|
[
{
"age": 14,
"case_id": "PMC11335551_01",
"case_text": "A 14-year-old girl with obesity experiencing symmetrical proximal limb muscle weakness and myalgia for 8 weeks was admitted to the 960th Hospital of Joint Logistics Force, PLA. Cutaneous manifestations included a lilac rash around both eyes and a flaky V-shaped rash on the chest. The patient did not have speaking or breathing difficulties, a family history of autoimmune disease or malignancy, or a history of fever before the onset of muscle pain. Her development was otherwise normal.\nDuring the physical examination, the patient was found to experience pain in the extremities upon pressing. She also exhibited generalized edema, including periorbital swelling and bilateral non-pitting edema of the upper and lower limbs. Bilateral cervical lymph node enlargement was detected on palpation; however, there was no evidence of organomegaly. The Manual Muscle Testing (MMT-8) score was 76, with the following specific muscle group scores: 8 for elbow flexors, 8 for hip flexors, 10 for shoulder abductors, 10 for wrist extensors, 10 for ankle dorsiflexors, 10 for neck flexors, 10 for hip abductors, and 10 for hip extensors. Electromyography (EMG) findings were consistent with the diagnosis of inflammatory muscle disease. To further evaluate the bilateral cervical lymphadenopathy noted during the physical examination, a chest computed tomography (CT) scan was performed. CT revealed an anterior mediastinal mass, bilateral subclavian lymph node enlargement, and bilateral axillary lymph node enlargement ( Figure 1 ). Biopsy of the left brachii muscle showed evidence consistent with the presence of DM ( Figure 2 ), and cervical lymph node biopsy indicated nodular sclerosing HL (nsHL) ( Figure 3 ). F-fluorodeoxyglucose positron emission tomography (FDG-PET) revealed mild diffuse increases in subcutaneous FDG metabolism in the extremities, along with anterior diaphragmatic lymphadenopathy and involvement of the sternal stalk ( Figure 4 ). Bone marrow aspiration results showed no abnormalities.\nLaboratory investigations revealed an elevated C-reactive protein (CRP) level of 12.40 mg/L (normal range: 0-5 mg/L). Tests for anti-nuclear antibodies (ANAs), anti-double-stranded DNA (anti-dsDNA), and anti-extractable nuclear antigen antibodies (including anti-Jo-1, anti-PM-Scl 70, anti-PM-Scl 100, anti-Ku, anti-Ro-52, anti-SSA, anti-SSB, and anti-Sm) were negative, as were serology tests for myositis-specific antibodies (MSAs) (anti-Mi-2, -Jo1, -EJ, -PL-12, -PL-7, -SAE 1/2, -MDA5, -SRP, -HMGCR, -TIF-1gamma, -SSA/Ro52, and -NXP-2). Line-blot for MSAs detection in JDM serum. Serum samples were tested by the commercial line blot Simcere Diagnostics autoimmune myositis 12 Ag (MYO12D-12) following the manufacturers' instructions. Test strips were scanned and evaluated for band intensity using the LineScan software (Dr DOT4). Following the manufacturer's recommendations, classified as negative (-) or positive (+). Negative: <5 AU (arbitrary units); gray zone: 5-10 AU (retest after 8-12 weeks); positive: >10 AU. CK, lactate dehydrogenase (LDH), alanine transaminase (ALT), and aspartate transaminase (AST) levels; white blood cell (WBC), red blood cell (RBC), and platelet (PLT) counts; and erythrocyte sedimentation rate (ESR) were within the normal ranges.\nUltimately, stage IV A nsHL concurrent with JDM was diagnosed. Chemotherapy was initiated according to the protocol for stage IV A, which comprised a regimen of adriamycin, bleomycin, vinblastine, and dacarbazine (ABVD). Prednisolone (2 mg/kg/day, orally) was administered for 2 months to treat JDM. The patient underwent six courses of chemotherapy, along with 15 sessions of local radiation therapy, to treat HL. Eleven months after the diagnosis, HL and JDM were completely in remission ( Figure 4 ).",
"gender": "Female"
}
] |
PMC11335551
|
[
{
"age": 43,
"case_id": "PMC10578418_01",
"case_text": "A 43-year-old Caucasian man presenting with a generalized seizure in 1998 was found to have a 5.6 cm parasagittal meningeal hemangiopericytoma involving the right parietal lobe and extending up to the sagittal sinus. He underwent subtotal tumor removal followed by Gamma Knife radiosurgery.\nHe was diagnosed with type 2 diabetes mellitus in 2002, initially treated with sulfonylureas, and then switched to Humulin N 25 units before breakfast and 15 units before dinner and Humulin R 5 units before meals in 2015, and glargine 50 units once daily and Humalog 5 units before meals in 2017.\nHe had local tumor recurrences in 2005 and 2009 that were treated with Gamma Knife radiosurgery and Trilogy radiosurgery, respectively.\nExtracranial metastatic disease manifested by a 13.5-cm right infiltrative kidney mass and 2 lytic bone lesions was first detected in March 2010. He underwent a right nephrectomy and palliative radiation therapy to both lytic lesions, one in the anterior left iliac bone and the other in the left sacrum.\nBetween 2010 and July 2021, he had multiple relapses that were treated with surgery (brain), radiofrequency ablation (liver and bone), cryoablation (bone, pancreas, and liver), microwave ablation (bone), stereotactic radiosurgery (bone), radiation therapy (pancreas, left lung, bone, and left pelvis), intravenous bisphosphonates and denosumab (bone), and systemic chemotherapy (sorafenib, sulfatinib, temozolomide with bevacizumab, and pazopanib) with no long-term response. His most recent palliative treatment was stereotactic ablative radiotherapy to a left pelvic mass in July 2021 (27 Gy in 3 fractions).\nFrom 2014 to July 2018, while on insulin, his glycated hemoglobin (HbA1c) remained in the 6.3% to 8.5% range. Off insulin, his HbA1c gradually dropped from 5.8% to <4.2% in May 2020.\nIn August 2018, excisional biopsy of left supraclavicular and left inguinal masses were consistent with metastatic malignant meningeal SFT (Fig. 1A and 1B). By immunohistochemistry, the tumor cells were positive for both CD34 and STAT6.\nHis renal function gradually declined after his right nephrectomy, and he was started on peritoneal dialysis in January 2021 and subsequently switched to hemodialysis.\nThe patient was admitted to the hospital in September 2021 for fasting hypoglycemia. He reported neuroglycopenic and adrenergic symptoms associated with capillary glucose levels in the 30 to 40 mg/dL range in the middle of the night, which resolved within 15 minutes after carbohydrate intake. He required intravenous and oral glucose during the hospital stay to avoid hypoglycemia. A brain magnetic resonance imaging (MRI) scan showed no evidence of recurrent or residual tumor. A computed tomography (CT) scan of his chest, abdomen, and pelvis revealed an enlarging 5 x 5.4 x 18.2-cm lobulated mass infiltrating the left kidney, and a new 6.9 x 5.3 cm central pelvic anterior mass. The left upper anterior subpleural nodule, the 3 enhancing capsular hepatic nodules, the multifocal pelvic, and L2 posterior vertebral body metastases, the 8-cm porta hepatis mass with central calcification, and the diffuse pancreatic nodularity were unchanged.\nHe was evaluated by endocrinology and non-islet cell tumor hypoglycemia (NICTH) was suspected and subsequently confirmed (Table 1). The IGF-2/IGF-1 ratio was 6.7, which is above the normal molar ratio of 3:1, but lower than the suggested diagnostic cutoff of 1:10. Since there is no commercially available assay, \"big\" IGF-2 was not measured.\nDiazoxide 200 mg twice daily and prednisone 30 mg daily were started and a Dexcom G6 continuous glucose monitor (CGM) was prescribed to facilitate the management of his hypoglycemia. Given persistent hypoglycemia, growth hormone (GH) therapy was entertained but palliative tumor debulking was recommended.\nCT scan of abdomen and pelvis in April 2022 revealed that the heterogeneous hypo-enhancing mass entirely replacing the left kidney now measured 11.6 x 10 x 28 cm (Fig. 2). Given that this mass had not been locally treated, it was considered the putative source of IGF-2 excess. Since surgery and ethanol ablation were deemed to be excessively risky, radiation therapy was recommended. He underwent a course of external radiotherapy to the left renal mass (30 Gy in 10 sessions).\nBy day 11 after finishing radiotherapy, the Dexcom G6 blood glucose readings showed that the hypoglycemia had abated and that postprandial hyperglycemia in the diabetic range was becoming evident (Fig. 3). The diazoxide was discontinued and the prednisone was tapered down to 10 mg per day over the next several weeks.",
"gender": "Male"
}
] |
PMC10578418
|
[
{
"age": 11,
"case_id": "PMC10853677_01",
"case_text": "Accompanied by his parents, an 11-year-old male child attended the Speciality Paediatric Clinics at the University Dental Hospital (UDH) in Taif University with a complaint of pain in the upper right quadrant. No issues were detected when past medical and family histories were reviewed. Dental history showed a good oral hygiene regime with twice-a-day fluoridated toothpaste brushing under parental supervision. Extra-oral examination was within normal range. The dietary analysis revealed high consumption of unhealthy diets. Upon intra-oral examination, the examiner noticed a black staining affecting the lower anterior teeth in the labial, lingual, and proximal surfaces (Figure 1). Most of these stains were classified as Gasparetto's score (3), as they were extended beyond half of the cervical part of the teeth.\nThe parents were reassured about the nature of the chromogenic staining and its expected short-term occurrence as part of the treatment plan, which was approved by signing the informed consent. Furthermore, the importance of consuming a healthy balanced diet was highlighted, in addition to explaining the other potential causes of chromogenic staining. The treatment involved professional teeth cleaning and polishing using an ultrasonic scaler, prophy pastes, and rubbers. The treatment session lasted approximately 45 minutes, and all the pigmentations were successfully removed from the teeth (Figure 2). The child and the parents were reminded about the possible recurrence of these stains, and a recall appointment was scheduled before they were dismissed. A follow-up examination three months after the initial treatment revealed no recurrence of these stains. Black stains may quickly return after removal, especially if the patient ignores the dietary and oral hygiene recommendations. Therefore, these recommendations were emphasized again during the recall visit.",
"gender": "Male"
}
] |
PMC10853677
|
[
{
"age": 40,
"case_id": "PMC11074956_01",
"case_text": "A female patient presented with anxiety and emotional lability, which she had experienced since the age of 40. She had never undergone psychiatric treatment before the age of 50. There was no relevant family history of mental illness. The patient had no psychiatric or medical history, except for appendicitis. At age 50, she reported experiencing pain like \"cardboard is stuck in my mouth and it hurts\" and somatosensory hallucinations, such as \"the floor moving up and down like a wave, causing vertical body shaking.\" At age 52, the patient was hospitalized for moderate depression accompanied by severe pain and somatosensory hallucinations. T1-weighted MRI revealed high signal findings in the bilateral globus pallidus and cerebral peduncles ( Figures 1A, B ). However, the brain MRI findings were not further evaluated and were considered incidental findings, because the patient had no history of Mn exposure, heavy alcohol consumption, or chronic liver disease. The patient was diagnosed with delusional disorder (somatic type) and major depressive disorder, discharged after medication with antipsychotics and antidepressants alleviated her symptoms.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC11074956_02",
"case_text": "At age 53, the patient relapsed into depression and somatosensory hallucinations and began experiencing walking difficulties and forgetfulness. Neurological examination indicated extrapyramidal symptoms such as bradykinesia and postural tremor, in addition to pyramidal tract signs. The patient exhibited mild cognitive impairment, particularly showing limitations in delayed recall and executing tasks based on verbal instructions. Detailed investigations showed no abnormalities in head computed tomography (CT), striatal dopamine transporter-single photon emission CT, or 123I-metaiodobenzylguanidine myocardial scintigraphy. Electroencephalography revealed no discernible frequency abnormalities or epileptiform discharges. No abnormalities were found in the general blood, cerebrospinal fluid, and urine analyses, as well as those of ammonia (24 micromol/L; normal range 9 microg/mL to 47 microg/mL), Mn (2.0 microg/mL; normal range 0.8 microg/mL to 2.5 microg/mL), iron, copper, and pyruvate metabolism-related substances. These findings ruled out Lewy body disease, hepatic encephalopathy, Mn poisoning, Wilson's disease, pyruvate metabolism disorders, and neurodegeneration with brain iron accumulation. Specifically, Wilson's disease was comprehensively excluded due to the absence of marked abnormalities in copper metabolism, as indicated by 24-hour urinary copper, serum ceruloplasmin, and blood free copper levels, along with the lack of liver dysfunction and signal heterogeneity on T2-weighted brain MRI.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC11074956_03",
"case_text": "At age 54, the patient relapsed again, undergoing pain, somatosensory hallucinations, and severe depression with catatonic features. Because of medication resistance, electroconvulsive therapy (ECT) was administered for a course of approximately 10 sessions, leading to the remission of psychiatric symptoms. ECT also mitigated motor dysfunction, particularly extrapyramidal symptoms. Despite the success of ECT in mitigating psychiatric symptoms, relapses occurred every year. These relapses recurred despite maintenance therapy with antidepressants, mood stabilizers, and antipsychotics, ultimately compelling further ECT. The psychiatric symptoms exhibited atypical characteristics, with hypomanic episodes and impulsive behaviors manifesting during the relapse at age 55. The patient's psychiatric symptoms were recurrent and resistant to treatment, and concomitant with neurological and cognitive dysfunction. Such characteristics prompted a reassessment of the diagnosis, that considered the potential involvement of organic factors related to the initial MRI findings.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC11074956_04",
"case_text": "Contrast-enhanced abdominal CT revealed a gastrorenal shunt connecting the left gastric vein to the left renal vein shunt that had a diameter of 10 mm ( Figure 2A ). This PSS was diagnosed as a congenital malformation because no underlying conditions were found that could have caused an acquired PSS, such as liver disease or surgical portacaval shunt. Blood transaminase levels and ammonia consistently remained within normal ranges to the extent measurable, which suggested that her symptoms were not caused by hepatic encephalopathy. During the course of the study, Mn concentrations also remained within normal ranges. At age 57, the patient was diagnosed with AHD based on the presence of CPSS, high signal intensity in the bilateral globus pallidus and cerebral peduncles on T1-weighted brain MRI, and clinical symptoms. Digital subtraction angiography revealed the transit of contrast medium from the left renal vein into the portal vein through the gastrorenal shunt, and the absence of portal vein hypoplasia ( Figure 2B ). With the patient's informed consent, shunt embolization was performed, using 12 mm Amplatzer Vascular Plug I ( Figure 2C ). The shunt embolization procedure proceeded without any notable adverse events. At age 59, follow-up T1-weighted MRI revealed a significant reduction in the hyperintensities in the globus pallidus and cerebral peduncle ( Figures 3A, B ). At age 60, 3 years after shunt embolization, the patient reported no relapses of motor dysfunction or psychiatric symptoms ( Figure 4 ). Despite the continued limitations in memory function, there was an overall improvement in her cognitive impairments. She expressed relief at being free of her annual depression and satisfaction with her ability to make routine decisions and solve problems without being overly dependent on her husband.",
"gender": "Female"
}
] |
PMC11074956
|
[
{
"age": 46,
"case_id": "PMC10739324_01",
"case_text": "In May 2022, a 46-year-old female patient underwent thigh liposuction and subsequently fat breast augmentation. The liposuction procedure utilized a 3-mm multiport cannula, which incorporated several 1 mm sharp side holes and operated at a suction pressure of -0.75 atm. The duration of the procedure was approximately one hour, and the extracted fat was subsequently subjected to centrifugation at 1200 g for 3 minutes to produce Coleman fat. A total volume of 800ml of Coleman fat was prepared, with 300ml of Coleman fat being administered to each breast for augmentation purposes. The remaining fat was cryopreserved at -18 C without the inclusion of a cryoprotectant solution. The patient did not exhibit any discernible symptoms of fever or infection following the initial liposuction and lipofilling operations.\nOne month after post-breast augmentation surgery, the patient underwent a second procedure using residual fat due to dissatisfaction with the initial outcome. The total filling volume was 175ml, with 75ml in the left breast and 100ml in the right breast.\nFollowing the second procedure, the patient experienced localized redness and swelling at both filling ports, along with breast pain and swelling. Despite treatment with prednisone and antibiotics, the symptoms persisted and worsened over time, leading to referral to our hospital. Despite the absence of indications of systemic inflammation, notable symptoms of localized inflammation were observed, including swelling and pain in both breasts, along with local erythema and the discharge of purulent exudate from the injection port ( Figure 1 ). Breast ultrasound detected the presence of multiple areas with no echo in both mammary glands, with the largest measuring 2.2 x 1.9 cm. Further MRI results revealed the existence of numerous adipose nodules at varying levels. Additionally, circular anomalous signal shadows, measuring approximately 2.0 x 2.0 x 1.4 cm, were visible in the lower quadrant of the right breast, indicative of infection and abscess formation ( Figure 2 ).\nTo determine the causative agents, we employed high-throughput DNA sequencing technology. High-throughput DNA sequencing is a non-culture-based technique that enables direct nucleic acid sequencing of clinical samples, enabling the identification, tracing, detection, and typing of infectious pathogens through database comparison. Sample was extracted from the purulent exudate of the injection port and sent for sequencing. The sequencing analysis yielded a total of twelve bacterial sequences, while no evidence of fungi, viruses, parasites, or other pathogens was detected. Upon comparison with the database, all the bacterial sequences were confirmed as C. bovis. Due to the absence of residual fat, pathogenic testing was not possible.\nTo address the source of infection, we investigated the sterilization process and storage container that the residual fat was stored in. The sterilization process was performed in accordance with standard clinical procedures, and the storage container was a sterile polypropylene container. However, the fat was cryopreserved at -18 C without the inclusion of a cryoprotectant solution. Cryopreservation has been shown to cause damage to cell membranes and could result in bacterial contamination due to the formation of ice crystals, which could facilitate bacterial entry into the cells.\nIn line with previous literature, after undergoing debridement surgery, the patient was administered intravenous imipenem for a duration of one week in order to alleviate the breast infection. The turnaround time for the DNA sequencing test was five days. During the test, the patient was administered ceftriaxone and cefuroxime. Upon confirmation of the C. bovis infection, the patient was switched to imipenem. After the eight-week follow-up, no discernible clinical or laboratory indications of infection were detected, and the previously present local redness and swelling in the left breast had resolved ( Figure 3 ). The MRI findings at 3 months after the operation indicated a notable decrease in the size of the infection site as compared to the earlier one ( Figure 4 ).",
"gender": "Female"
}
] |
PMC10739324
|
[
{
"age": 53,
"case_id": "PMC10880742_01",
"case_text": "A 53-year-old non-smoking woman with no significant past medical, occupational and exposure history, nor chronic regular medication presented at the emergency department with complaints of fatigue and dyspnea upon minimal exertion with progressive worsening over a five-week period, during the coronavirus disease 2019 (COVID-19) pandemic season. Initially interpreted as anxiety, with no relevant findings regarding physical examination, laboratory results and chest X-ray, she was discharged with no drug prescription. An outpatient reevaluation raised suspicion of SARS-CoV-2 infection leading to another emergency department admission. Her vital signs were stable, with normal blood pressure and cardiac frequency, with oxygen saturation (SpO2) of 94% in breathing air. Physical examination had no significant findings, specifically regarding pulmonary auscultation. Lab test results showed no elevation of inflammatory markers (normal white blood cells and C-reactive protein (CRP)). A CT scan was performed, with findings of bilateral pulmonary infiltrates, suggestive of COVID-19 infection (Figure 1) with two SARS-CoV-2 as well as one multiplex virus test - by polymerase chain reaction (PCR)- all being negative for SARS-CoV-2, influenza A and B and respiratory syncytial virus. With a CORAD score of 4 (clinical and chest CT scan with high suspicion of COVID-19 infection) the patient was hospitalized for bilateral interstitial pneumonia without respiratory failure, she received a five-day course of dexamethasone, showing favorable progress and was discharged with an Internal Medicine reevaluation scheduled. The investigational study during outpatient evaluation revealed elevated creatine kinase (CK) of 351 U/L, positive antinuclear antibodies (ANAs), and anti-SSa antibodies. Pulmonary function tests were also done, with normal results. Approximately one month later, she experienced fatigue, exercise intolerance, morning cough, and Raynaud's phenomenon episodes. Despite negative anti-SARS-CoV-2 antibodies, a follow-up chest CT indicated bilateral organizing pneumonia. Bronchofibroscopy and bronchoalveolar lavage with cytology were performed, with negative bacterial or mycobacterial cultures, with findings suggestive of inflammatory changes, predominantly with CD8+ lymphocytes. Subsequent positive anti-OJ antibodies confirmed the diagnosis of ASS. Treatment with prednisolone at 60mg/day, followed by a tapering schedule, resulted in clinical and radiological improvement (Figure 2). Additional therapeutic consideration with azathioprine was proposed.",
"gender": "Female"
}
] |
PMC10880742
|
[
{
"age": 22,
"case_id": "PMC10464821_01",
"case_text": "A 22-year-old male patient presented with facial erythema and itching for two months. Over time, he developed multiple erythematous patches on his face, accompanied by mild pruritus. The patient had previously sought medical attention at an external hospital, where a fungal microscopy examination yielded negative results, and he was diagnosed with \"eczema\". Subsequently, he underwent various treatments, including \"moisturizing and anti-itch capsules\", \"ebastine tablets\", \"dichlorphenamide suspension\", multiple injections of \"compound betamethasone sodium phosphate\", and topical application of \"dermadex cream\", \"terbinafine cream\", and \"hydrocortisone cream\". Despite these interventions, the facial skin lesions persisted. Upon presenting to our hospital, the patient was diagnosed with \"eosinophilic pustular folliculitis\". An initial attempt to treat the condition with \"indomethacin enteric-coated tablets\" resulted in the patient experiencing dizziness and nausea.\nConsequently, he discontinued this medication after three doses and switched to \"minocycline capsules\" instead. The facial erythema gradually improved throughout his treatment with minocycline capsules, and the patient continued taking the medication without experiencing any dizziness or nausea. Notably, the patient did not report any accompanying symptoms such as fever, cough, fatigue, or weight loss. He had no significant medical history, was unmarried, and had an unremarkable family medical history.\nPhysical examination revealed no abnormalities in various systems, and dermatological analysis unveiled patchy dark brown plaques on the face, with several green bean-sized follicular red papules on top (Figure 1A). Pathological examination of the skin lesions demonstrated excessive keratinization, patchy mixed inflammatory cell infiltration in the superficial dermis, dense infiltration of lymphocytes, and numerous eosinophils around some hair follicles and sebaceous glands, with partial destruction of structures (Figure 2A and B). Direct immunofluorescence and azan staining yielded negative results. Dermoscopic examination showed unclear boundaries of the lesion, irregular patches or clusters of red blood vessels on the dark red base, a few white scales on top, and follicular keratosis (Figure 3A). Direct microscopy and culture of facial skin flakes for fungi were also negative. The RCM examination of the facial area revealed hyperkeratosis and an abundant inflammatory infiltrate in the superficial dermis, composed of numerous sparse hyper-reflective cells. \nFurthermore, a hyper-reflective inflammatory infiltrate was observed around specific hair follicles and sebaceous glands (Figure 4A). Laboratory and auxiliary examinations showed negative results for syphilis antibody, HIV antibody, antinuclear antibody, and antineutrophil cytoplasmic antibody. The patient's white blood cell count was 11.6 x 10^9/L, with an absolute neutrophil count of 7.81 x 10^9/L and an absolute monocyte count of 0.61 x 10^9/L. Liver and kidney function tests were found to be within the normal range. \nIn summary, the diagnosis was eosinophilic pustular folliculitis (classic). The patient was treated with minocycline 100mg/d orally daily; most of the erythema on the face disappeared, and the bumps dried up after ten days of treatment (Figures 1B, 3B and 4B). The eosinophilic granulocytes of the peripheral blood were restored to normal in a repeat examination. The minocycline was continued to be used at 100 mg/d. The medication was discontinued after the symptoms subsided after one month of treatment, and the patient was not seen to have any recurrence at three months of follow-up.",
"gender": "Male"
}
] |
PMC10464821
|
[
{
"age": 68,
"case_id": "PMC11225523_01",
"case_text": "The patient provided informed consent for the publication of his anonymized data. A 68-year-old man underwent linear accelerator radiotherapy-based SRS of 20 Gy in three fractions for right VS [Figure 1], which was radiographically diagnosed without tissue biopsy. No vascular lesion of the AICA was detected in pre-radiotherapeutic magnetic resonance imaging (MRI). The patient responded well to radiosurgery, except for the development of progressive severe hearing loss in the right ear, and annual MRI follow-up at another hospital demonstrated partial regression of the tumor. Twenty years after SRS, the patient presented with a sudden onset of severe headache associated with nausea and vomiting. His cranial nerve and sensory-motor function were intact, but the right hearing loss was present. Computed tomography revealed a diffuse subarachnoid hemorrhage (SAH) with a predominance of bleeding in the right posterior fossa cisterns [Figure 2]. Digital subtraction angiography showed a fusiform aneurysm arising from the meatal loop of the right AICA. The radiation field of the previous SRS included the aneurysm site. The aneurysm was approximately 2.9 mm in size and was located at a nonbranching point of the right main AICA [Figure 2]. The right superior cerebellar artery and the posterior inferior cerebellar artery were large and seemed to supply a large area of the ipsilateral cerebellar hemisphere. After a thorough discussion in our department of neurosurgery, we performed endovascular aneurysmal coil embolization and parent artery occlusion (PAO) with n-butyl cyanoacrylate. A Marathon microcatheter (Medtronic; Minneapolis, MN, USA) was placed into the aneurysm. The aneurysmal dome and part of the AICA, as the parent artery, were embolized using seven ED coils (Kaneka, Osaka, Japan) followed by PAO of the nonbranching section of the AICA with n-butyl cyanoacrylate [Figure 2]. Postoperative MRI revealed an infarction on the right side of the pons and brachium pontis [Figure 2], causing mild cerebellar ataxia, severe right facial nerve palsy (House-Brackmann Grade 4), and abducens palsy. Except for moderate right hemifacial palsy, the additional neurological disorders recovered fully in 3 weeks. The patient, with a modified Rankin Scale Grade 2, was transferred to a second hospital on the 24th postoperative day to continue rehabilitation.",
"gender": "Male"
}
] |
PMC11225523
|
[
{
"age": null,
"case_id": "PMC10757060_01",
"case_text": "A woman in her 50s was aware of an abdominal mass but had neglected it for a month. During a medical check-up with her general practitioner, she was diagnosed with the iron deficiency anemia. Subsequent contrast-enhanced abdominal CT and magnetic resonance imaging (MRI) revealed a retroperitoneal mass with a maximum diameter of approximately 10 cm. The patient was referred to our gastroenterology center for the further investigation and management.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC10757060_02",
"case_text": "At the time of presentation to our hospital, the woman had no abnormal vital signs. Blood tests revealed only mild iron deficiency anemia and no other abnormal findings.\n Contrast-enhanced CT presented an 8x7x12 cm3 mass lesion in the left retroperitoneal space. Dynamic CT study showed high-contrast enhancement in the arterial phase and washout in the late phase (Figure 1). The intratumoral signal presented low-signal on T1-weighted images and high-signal intensity on T2-weighted images. Signal changes indicating the degeneration or necrosis were also observed in the center of the lesion, as shown on CT. Fat-suppressed T1-weighted images showed a faint high-signal area within the lesion, which was indicating the internal hemorrhage (Figure 2).\n These findings on CT and MRI supported the diagnosis as retroperitoneal PG with degeneration/necrosis and haemorrhage. \n Subsequent 123I-MIBG scintigraphy revealed the solitary abnormal accumulation in the retroperitoneal lesion corresponding to the tumor; the finding was consistent with PG (Figure 3). 123I-MIBG accumulation is shown only in part of the retroperitoneal lesion. \n Several plasma catecholamines and their urinary metabolites were normal.\n 18F-FDG PET/CT revealed high FDG uptake in the retroperitoneal lesion (maximum standardized uptake value [SUVmax]=38). In addition, a small nodule-like FDG uptake was found at the base of the lower lobe of the right lung (SUVmax=9.8) (Figure 4). By reviewing the contrast-enhanced dynamic CT, a 0.7x0.5x0.7 cm3 nodule was found at the base of the lower lobe of the right lung presenting high contrast-enahncement in the arterial phase and washed out in the late phase (Figure 5); this led us to suspect pulmonary metastasis of PG.\n The retroperitoneal lesion was subsequently resected. On gross examination, the split surface of the lesion was brownish in color. \n Histologically, the lesion comprised large polygonal cells with abundant cytoplasm. Abundant intervening blood vessels surrounded the cell cords and cytoplasm. The nuclei of the component cells were enlarged and irregular in shape. Immunostaining was positive for chromogranin A and partially positive for S100; the MIB-1 labeling index was 26.6% (Figure 6).\n Based on these findings, the tumor was determinately diagnosed as PG. Moreover, as the lesion had a score of 12 on the Pheochromocytoma of the Adrenal Gland Scoring Scale, it was considered a lesion with a malignant clinical course.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC10757060_03",
"case_text": "The right pulmonary nodule was resected and its pathological findings was similar to that of the retroperitoneal lesion, leading to a diagnosis of pulmonary metastasis from the retroperitoneal PG. There has been no postoperative recurrence, and the patient is under observation at our hospital.",
"gender": "Unknown"
}
] |
PMC10757060
|
[
{
"age": 7,
"case_id": "PMC10516292_01",
"case_text": "In our case, the implantation of an eight-millimetre AFR device (Occlutech, Germany) was performed in a 7-year-old girl with idiopathic PAH. The girl was referred after having a confirmed Mycoplasma pneumonia infection only with fever, missing other symptoms like coughing or dyspnoea. However, after recovering from the infection, she presented to the pediatric cardiologist at the local hospital with decreased exercise capacity and shortness of breath. A significant dilatation of the right atrium, the right ventricle, and the pulmonary artery could be detected by echocardiography. The estimated right ventricular pressure was around 50 mmHg, and the pro-BNP was 8,683 pg/ml without congenital heart disease. The ECG showed sinus tachycardia with 120 bpm and a p-pulmonale.\nAn extensive evaluation of pulmonary hypertension was initiated. Nevertheless, except for positive Mycoplasma pneumonia result, the CT scan, coagulation disorder screening, allergy diagnostic, autoimmune-diagnostic, lung function test, ultrasound of the abdomen, polysomnography, EEG and Genetic testing showed no secondary cause for the PAH. The first cardiac catheterisation (Table 1) showed no severe PAH (PAPm 25 mmHg, PCW 6 mmHg, PVR 3.8 WU, CI 4.8 L/min/m2). Clinical symptoms improved, and the 6-minute walking test and the NT-pro-BNP reached a normal range (i.e., 684 m).\nDue to the positive mycoplasma serology, the further pneumology evaluation showed suspicious bronchiolitis obliterans in the CT scan, and the bronchoscopy showed moderate stenosis of the middle lung lobe. Further, the RV systolic pressure increased to approximately 70 mmHg, and targeted therapy with PDE-5 Inhibitors was initiated. A further rise of the RV systolic pressure to 90 mmHg occurred, and therapy was escalated with endothelin-receptor antagonists and inhaled Prostacyclin. Despite this regime, a further deterioration could be observed, and the girl developed recurring syncope under physical exercise (running to the schoolbus). She was unable to ride a bicycle or even to attend school. She woke up regularly at night hyperventilating, and her 6-minute walking test was less than 100 m then. The echocardiography showed supra-systemic pressure in the right ventricle (111 mmHg).\nThe initiation of intravenous Prostacyclin was discussed, but due to the recurring syncope, the balloon-atrial-septostomy + AFR implantation was performed.\nDue to the severity of the condition and the novel device, which was not CE approved then, we obtained informed consent, and the Ethical committee approved the off-label use of an 8 mm AFR device. We performed the cardiac catheterisation under sedation. During induction, the child developed a PH crisis, which could be treated with Catecholamines and intravenous Prostacyclin. However, the second episode of a PH crisis occurred during device implantation. This time required a short period of resuscitation. Under the application of Adrenalin i.v. and Prostacyclin directly into the pulmonary artery, a stabilisation of the condition could be established. We perforated the intra-atrial septum with a Brockenorough transseptal puncture needle under the guidance of transesophageal echocardiography (TEE), the puncture hole was dilated, and a 12 Fr sheath was inserted over the interatrial communication into the left atrium so that 8 mm AFR device could be deployed (Figure 2). After confirming the correct position and checking the oxygen saturation level of greater than 85% and stable hemodynamic parameters, the device was completely and successfully released. The postinterventional echocardiography confirmed a right-to-left colour flow through the 8 mm atrial communication (Figure 3). After the intervention, anticoagulation with ASS was established.\nAfter the AFR device (Occlutech, Germany) implantation, she recovered within 1 day and never developed syncope again. In the following two years, a normalisation of the saturation over 95% could be observed, her NT-pro BNP levels went back to normal values, and her exercise capacity increased. The saturation drops to around 75% under exercise conditions. The cardiac catheterisation 3 years after AFR device implantation showed significant improvement (Table 1). 6 years after device implantation, her baseline saturation remained normal (98%, NHYA functional class II), the right ventricular volume and size decreased (Figure 4), NT-pro-BNP values were satisfying (Table 2) and the 6-minute walking distance was around 540 m.",
"gender": "Female"
}
] |
PMC10516292
|
[
{
"age": 6,
"case_id": "PMC10467424_01",
"case_text": "Currently, the patient is 6 years old. His last cardiac evaluation showed increased wall thicknesses on the inferior wall and on all mid-apical segments (baseline IVS 5.5 mm, PW 8 mm), accentuation of the trabecular meshwork, a slight reduction of systolic function overall (LVEF 47%-48%) together with mild reduction of the mitral annular plane systolic excursion (MAPSE 9 mm).\nRegarding neutropenia, another pathological condition associated with BTHS, the patient showed a normal neutrophil count with episodic moderate neutropenia. At age 2, during an infection episode accompanied by severe neutropenia (neutrophil count 350/microl), therapy with Granulocyte Colony-Stimulating Factor (G-CSF) was started. However, the patient had remarkable neutrophilia, so therapy was stopped a few months later, and he never again experienced severe bacterial infections.\nAs regards metabolic screening, the first evaluation of plasmatic amino acids and organic urinary acids was performed at age 2, when the baby came to our attention, and showed augmented excretion of 3-MGCA. The patient was monitored for metabolic alterations from then on, and low citrulline and arginine levels were detected during the most recent follow-up, which have been corrected by increasing supplementation therapy (citrulline, arginine and vitamin B12).\nNo significant episodes of hypoglycaemia occurred, except for at 3 years of age, during a viral gastroenteritis. He is now under therapy with Glycosade, a slow-release starch to keep blood sugar levels consistent and prevent hypoglycaemia.\nNeither skeletal muscle weakness nor growth retardation have been observed in Patient 1 until now.",
"gender": "Male"
},
{
"age": 33,
"case_id": "PMC10467424_02",
"case_text": "Patient 2 is a maternal cousin of Patient 1 (see Figure 1), a 33-year-old Caucasian male with recurrent severe neutropenia since early childhood, who was not diagnosed with BTHS until adulthood. This patient had two brothers, the first one died due to congenital cardiomyopathy at age 1 month, while the second one is in good health (but without genetic investigation yet to date). Cardiac function parameters have always been normal throughout his life until now. However, neutropenia was observed at birth after an acute urinary tract infection, and then the patient was hospitalized at 1 year of age for septic shock due to a severe Pseudomonas aeruginosa infection. This event was followed by frequent and important infectious episodes (mainly either middle ear or inner ear infections) with hospitalization during the first years of life. After repeated neutrophil count examinations, which often indicated a value <500/microl, the patient started therapy with 4 microg/Kg G-CSF on alternate days at 4 years of age, with good recovery of neutrophil count and no other infectious episodes.\nAt age 11, after discontinuation of G-CSF therapy, the patient was hospitalized again for febrile gastroenteritis with severe dehydration. During this time, he suffered from cardiac arrest and then septic shock after surgical hemi-colectomy for two colic perforations. After this event, the G-CSF therapy was reinstated with a contextual normalization of the neutrophil count and only sporadic leucocytosis.\nDuring his adolescence, the patient showed delayed growth in stature and weight and a bone mineral density that was lower than expected for gender and age (calculated T-score:2.9 at spinal level at 15 years of age). This finding is indicative for the presence of moderate osteopenia. Because of the associated presence of a hypovitaminosis D condition, supplemental therapy with calcifediol was introduced.\nAt age 23, the T-score at spinal level improved slightly to -2.2, but vertebral fractures (at D11, D12, and L1) were observed. For this reason, the patient was also treated with bisphosphonates by infusion.\nAt age 25, the patient was evaluated by a geneticist for hematopoietic system disorders by DNA sequencing and mutation analysis in a panel of candidate genes, including ELANE, HAX1, G6PC3, and WAS. However, the sequences were found to be normal, and no signs of immunodeficiency nor Wiskott-Aldrich syndrome has been noted after a careful genetic counselling. The patient had electrocardiogram and echocardiogram for physical activity normal.\nAt age 33, given his clinical history and over all the familiarity, the diagnosis of BTHS was finally made, 5 years later than the cousin's diagnosis. First, an elevated MLCL/CL ratio was detected in the leukocytes by MALDI-TOF/MS. Finally, DNA sequencing of the TAFAZZIN gene showed that Patient 2 shared the same genetic mutation with his cousin, Patient 1.\nAfter diagnosis, cardiac evaluation of Patient 2 showed a mild EF reduction that did not require therapy. Patient 2 waits for the evaluation of the amino acids to possibly fill in the missing ones.\nTable 1 summarises the most important clinical, biochemical, and genetic findings of the two BTHS patients, and shows a considerable phenotypic variability.",
"gender": "Male"
}
] |
PMC10467424
|
[
{
"age": 15,
"case_id": "PMC10900176_01",
"case_text": "A 15-year-old female visited our hospital with short stature as a major complaint. The child was born to a G5P4L4 mother with a self-reported third-degree consanguineous marriage. The child's weight and height were observed as 25 kg and 110 cm, respectively, with an expected 55 kg weight and 155 cm height at a z-score <3. The stature of the child was short. It was observed that the child was presented with polydactyly in both hands and both feet, and the fingernails and toenails of the child showed dystrophic changes since birth (Figure 1).\nFigure 2 depicts the X-ray image of the presentation of polydactyly in both hands.\nAn intraoral examination revealed that the patient had microdontia, and primary incisors were found to be cone-shaped, with primary molars having irregular cusps (Figure 3).\nThe child had a short stature with a height that was three standard deviations below the expected height for this age and gender according to the WHO standard growth chart. The upper segment to the lower segment ratio was 0.9 (Figure 4).\nThe patient had a positive family history of polydactyly (both in hands and in feet) at birth, which was reported by her grandfather. The child was subjected to 2D echocardiography, which reported normal cardiac structure and function. Ultrasonography of the abdo-pelvic region suggested normal functioning, and no renal abnormalities were noted. Physical and clinical presentations were suggestive of WAD. Genetic counseling with regular follow-up was advised.",
"gender": "Female"
}
] |
PMC10900176
|
[
{
"age": 74,
"case_id": "PMC11150609_01",
"case_text": "A 74-year-old man of Caucasian ancestry presented to our Rheumatology Clinic in February 2022 with a 6-month history of fatigue, anorexia, nighttime lower back pain, and prolonged morning stiffness. He had a history of lower extremity deep vein thrombosis (DVT) in July 2021 but had no relevant medical history. Blood workup revealed macrocytic anemia (hemoglobin [Hb] 8.8 g/dL, mean corpuscular volume [MCV] 101.0 fL) and increased acute-phase reactants [C-reactive protein (CRP) 4.27 mg/dL, ferritin 994 ng/L, erythrocyte sedimentation rate (ESR) 113 mm/h]. There were no other cytopenias nor significant changes in renal, hepatic, or thyroid function. Hemolysis was not present and vitamin B12, folate, copper, and zinc levels were normal.\nThe patient had been prescribed prednisolone 15 mg daily for 3 weeks by his general practitioner, with partial improvement of his symptoms and laboratory tests (Hb 11.0 mg/dL, MCV 105.7 fL, CRP 0.58 mg/dL, ESR 115 mm/h). Magnetic resonance imaging (MRI) of the sacroiliac joints was obtained and showed bilateral sacroiliitis with moderate asymmetric inflammatory activity (see Figure 2 ). Additionally, a color Doppler ultrasound of the head, neck, and upper extremities and positron emission tomography (FDG-PET/CT) were performed, with no evidence of large vessel vasculitis. FDG-PET/CT was normal apart from a diffusely increased FDG uptake in the bone/bone marrow, suggestive of non-specific medullary stimulation.\nAfter the hematology review, anemia was first labeled as anemia of chronic disease, possibly related to inflammation secondary to an undiagnosed inflammatory condition.\nIn April 2022, the patient was admitted to the Infectious Diseases Department due to a 10-day history of fever (1-2 spikes/day with a maximum temperature of 39.0 C) while on prednisolone 7.5 mg daily. On admission, he presented with inflammatory lower back pain, bilateral lower limb purpuric skin lesions (see Figure 2 ), worsening anemia (Hb 8.5 g/dL, MCV 100.0 fL), and raised CRP and ESR (10.5 mg/dL and 88 mm/h, respectively). Prednisolone was stopped and the patient was started on diclofenac 50-75 mg twice daily. A complete workup for fever of unknown origin was performed. Computed tomography (CT) of the neck, chest, abdomen, and pelvis and transesophageal echocardiogram were unremarkable. Blood cultures, serologic screening for infectious causes, and a comprehensive autoimmune panel were negative.\nA skin biopsy was performed when the patient developed an erythematous nodular skin lesion on the dorsum of the foot with findings of non-specific neutrophilic vasculitis. Progressively worsening anemia with new transfusion dependency (minimum Hb 5.9g/dL) prompted a bone marrow aspiration and biopsy. The initial report noted a hypercellular marrow with erythroid hypoplasia, an increased myeloid to erythroid ratio (M:E 7:1), and no significant morphological changes nor left shift.\nOn the third week of hospital admission with persistent fever, slightly improved inflammatory lower back pain, and persistently elevated acute-phase reactants, the patient developed auricular chondritis (see Figure 2 ). Hence, a diagnosis of relapsing polychondritis was assumed. Prednisolone 20 mg daily was started with the resolution of the fever, chondritis, and skin lesions. Due to the persistence of disproportionate macrocytic anemia after discharge, a review of the bone marrow aspirate was requested, showing extensive vacuolization of myeloid and erythroid precursors, without features of MDS (see Figure 3 ). No cytogenetic abnormalities were identified in FISH or karyotyping, and a 30-gene NGS panel was negative for the most common MDS-related gene mutations.\nTherefore, a diagnosis of VEXAS syndrome was suspected and subsequently confirmed through the identification of the UBA1 p.Met41Thr variant by NGS, with a variant allele fraction (VAF) of 71.25%.\nSoon after discharge, while on prednisolone 12.5 mg daily, the patient was readmitted due to recrudescence of fever, back pain, severe anemia, and a rise in acute-phase reactants. He received intravenous methylprednisolone pulse therapy (1 g daily for 3 days) followed by prednisolone 1 mg/kg/day (80 mg) and ruxolitinib (starting at 15 mg twice daily). After an initial response, symptomatic relapse occurred upon prednisolone reduction below 30 mg. Despite titrating ruxolitinib dose up to 25 mg twice daily and starting darbepoetin alfa support (maximum 300 mug weekly), tapering below 30 mg of prednisolone was not possible.\nA bone marrow aspirate was repeated and confirmed persistent vacuolization but no progression to MDS or acute myeloid leukemia (AML). Given the severe inflammatory behavior and absence of progression to MDS, a switch to tocilizumab was decided. However, before starting tocilizumab, the patient was admitted for diverticulitis with a local abscess, further increasing the risk of bowel perforation reported with this drug. A decision was then made to start azacitidine at the standard dose of 75 mg/day/m2 administered for 5 + 2 days (28-day cycles). Azacitidine was started in June 2023, allowing progressive steroid tapering, from an initial dose of 40 mg of prednisolone daily to a minimum dose of 5 mg daily as of March 2024. No significant adverse events were noticed. The patient has received 9 cycles of azacitidine and is currently in clinical remission, with CRP <0.5 mg/dL, ESR <50 mm/h, and Hb >12g/dL, and has been transfusion-free for 8 months. Importantly, after 9 months of therapy, bone marrow reassessment was consistent with a significant decrease in precursor cell vacuolization with no additional signs of dysplasia, and the UBA1 p.Met41Thr VAF decreased from 71.25% to being undetectable, suggesting a deep molecular response.\nDuring the entire follow-up, the existence of a multidisciplinary team allowed for the assessment of different comorbidities. The patient received prophylaxis with acyclovir 200 mg twice daily and trimethoprim-sulfamethoxazole 960 mg thrice weekly while on prednisolone >20 mg/day. Immunizations against SARS-CoV-2, influenza, Streptococcus pneumoniae, and herpes zoster were also administered. Despite this, the patient experienced several infectious complications, including a dental abscess, two viral upper respiratory tract infections (one caused by respiratory syncytial virus), an oral candidiasis, and two admissions for acute diverticulitis and severe bilateral pneumonia requiring high-flow oxygen therapy (presumably bacterial). He also suffered two osteoporotic vertebral fractures, despite early institution of antiresorptive treatment with zoledronic acid and calcium carbonate and cholecalciferol supplementation. Given the history of DVT and the thrombotic risk associated with VEXAS syndrome, secondary thromboprophylaxis with rivaroxaban was kept during the entire treatment course.",
"gender": "Male"
}
] |
PMC11150609
|
[
{
"age": 35,
"case_id": "PMC10852138_01",
"case_text": "A 35-year-old obese male with a body mass index of 37.35 kg/m2, known history of hepatitis C infection, and recently diagnosed with DM had presented to the emergency department with dizziness, headache, speech difficulty, and left-sided facial weakness and was admitted as a case of suspected stroke. The patient's medical record showed no history of COVID-19 vaccination.\nA nasopharynx reverse transcriptase-polymerase chain reaction test for COVID-19 was performed on admission and the result came positive with variant (BA.4/BA.5). Other significant laboratory results include refractory hypokalemia (potassium level were 2.0, 1.9, and 1.8 mmol/L), normal magnesium (2.94 mg/dL), hyperglycemia (point of care test was 421mg/dL and glycosylated hemoglobin (HbA1c) was 10.4%) and interleukin-6 was (175.00 pg/mL). Human immunodeficiency virus was ruled out by the enzyme-linked immunosorbent assay test. Chest X-ray showed clear costophrenic angles [Figure 1], but brain computerized tomography scan with contrast concluded features of pansinusitis with left side facial and periorbital inflammatory process (cellulitis) with left proptosis but no evidence of cavernous sinus thrombosis. No bacterial growth was detected from blood culture test, where candida albicans was detected in urine culture.\nGiven the suspicion of CNS infection, the patient was prescribed broad-spectrum antibiotic regimen (piperacillin-tazobactam, vancomycin, and metronidazole). Insulin therapy was started immediately for hyperglycemia management and supportive therapy (dexamethasone was started then ceased due to mucormycosis suspicion) for COVID-19 complications management.\nOn the next day of admission, the patient developed a sore throat and increased left eye swelling. Otherwise, he was stable with no fever and maintained oxygen saturation in room air. Ocular examination showed left eye proptosis, ophthalmoplegia, and lid edema with no ocular movement. The pupil was dilated and fixed/relative afferent pupillary defect. Nasal examination indicated septal deviation and black discoloration.\nNasal/sinus endoscopy revealed a black right middle turbinate with no pus or polyps. Various nasal biopsies for the fungal study were collected and sent to laboratory for microscopic culture growth and examination, and liposomal amphotericin 5 - 10 mg/kg/day was started as mucormycosis was suspected.\nLater during admission, brain magnetic resonance imaging (MRI) scan with contrast revealed invasive sinonasal mucormycosis with orbital and cerebral extension and intracranial involvement [Figure 2]. The patient underwent emergency septoplasty and functional endoscopic sinus surgery. During the surgery, sinuses were opened, pus was drained, necrotic tissues were removed, and biopsies were collected for further histopathological tests. Histopathological examination confirmed mucormycosis, as culture reports indicated Rhizopus arrhizus and methicillin-resistant Staphylococcus aureus (MRSA) growth. Nasal MRSA PCR was not detected.\nDuring the hospital stay, voriconazole was given in combination with liposomal amphotericin which was stopped because of not being effective against the Mucorales. The patient developed bilateral ophthalmoplegia, proptosis, and blindness, and necrotic eschar of the left ear [Figure 3]. Oral cavity examination revealed an extensive spread of Mucor.\nOn day 17, the patient had a drop in the Glasgow coma scale and developed a labored breathing pattern, thus he was transferred to the intensive care unit (ICU) for intubation. Repeated MRI scan for the brain revealed a complicated abscess formation. After being discharged from the ICU, the patient is in a stable condition with bilateral blindness. We obtained written informed consent from the patient's family.",
"gender": "Male"
}
] |
PMC10852138
|
[
{
"age": 23,
"case_id": "PMC11361273_01",
"case_text": "A 23-year-old woman had been followed up with a diagnosis of thalassemia major since the age of 2 years and was receiving frequent blood transfusions. She was started on deferasirox because of severe hip pain due to deferiprone use. While taking 1,500 mg oral deferasirox daily for about a week, a maculopapular rash developed on her face and hands 5 - 6 hours after the last dose. The rash spread all over her body in the next 2 - 3 days. No peeling, mucosal involvement, or associated fever was detected. Hepatic and renal test results were normal. After deferasirox was discontinued, the patient used antihistamines and topical steroids for about a month, and the lesions healed leaving hyperpigmentation. The patient then continued desferrioxamine therapy for ~ 6 months. She was then referred to our clinic by the hematology department due to high ferritin levels and compliance problems with desferrioxamine treatment. The patient's doctor's note referred to maculopapular rash after deferasirox use, and there were no obvious spots or scars on examination. The hematology doctor suggested deferasirox desensitization as an alternative. \nThe patient had no known history of asthma or allergy. However, her brother had experienced skin rash following deferasirox treatment. \nWe diagnosed a deferasirox-related delayed-type hypersensitivity reaction based on the delayed onset of the rash and the naturalization of the lesions. After obtaining informed consent, patch testing was performed with the drug itself and using a 1/10 dilution. The results were negative at 48 and 96 hours. Unfortunately, the patient declined the provocation test. The risks and benefits of desensitization were discussed with the patient. She ultimately decided to proceed with the procedure due to the previous adverse reactions with medications, inability to decrease the ferritin level as desired, and her physician's deferasirox recommendation. The therapeutic dose was determined as 1,500 mg/day by the hematologist. \nAfter obtaining informed consent, a modified version of the protocol developed by Bruner et al. was used for the desensitization. The original protocol was modified by taking into account the commercial form of deferasirox (125, 250, and 500 mg effervescent tablets) to ensure ease of use and to shorten the protocol. The starting dose was the same as the original protocol. The original protocol and the modified one that we used are presented in Table 1. \nPre-medication was not administered before any dose. Erythema that started from the ears and spread to the face was seen ~ 2 hours after the administration of the first dose of 0.1 mg during the second step of desensitization. The lesions improved within 2 hours after the intramuscular administration of 45.5 mg of pheniramine maleate and oral administration of 10 mg of cetirizine. The next day's dose was administered at our clinic again, and no reaction was observed. Desensitization was then continued as planned and completed without any further reactions. No hypersensitivity reaction developed during the 1-month follow-up.",
"gender": "Female"
}
] |
PMC11361273
|
[
{
"age": 32,
"case_id": "PMC10838114_01",
"case_text": "A 32-year-old Hispanic female with no relevant past medical history presented to urgent care with worsening throat pain, progressive dysphagia, trismus, voice changes, and fevers for the past week. She was diagnosed with PTA based on clinical examination and referred to the emergency department (ED).\nAfter assessment in the ED, she was admitted to the hospital and referred to the otolaryngology team. The patient reported fever and chills but no trismus. On otolaryngologic examination, she showed no signs of respiratory distress. However, she had mild cervical adenopathy, a midline uvula with tonsillar asymmetry, and a Brodsky scale 2+ right tonsil with 3+ left tonsil. She had bilateral posterior oropharyngeal erythema, and the left tonsil was actively draining a yellowish-white fluid purulence from the inferior pole, lateral to the tongue base.\nContrast-enhanced cervical CT imaging revealed a 1.5x1.1x1.1 cm left palatine tonsil with a central area of hypoattenuation, surrounded by rim enhancement. A single septation and a 2 mm calcification were also observed within the tonsil of interest. Additionally, there was notable left-sided reactive cervical adenopathy (Figure 1).\nLaboratory testing did not show an elevated white blood cell count or any other abnormalities in the complete blood count or comprehensive metabolic panel. An attempt to aspirate the ITA with a needle was unsuccessful. Subsequently, the left tonsil was probed with a curved hemostat, resulting in yellowish-white purulent drainage, pressure relief, and improvement in the patient's voice. No fluid was sent for cultures. IV clindamycin (a single 900 mg dose) and IV dexamethasone (a single 10 mg dose) were initiated.\nThe patient was discharged on oral clindamycin (300 mg every six hours for 10 days) and oral dexamethasone (4 mg Medrol Dosepak) after spending approximately four hours in the ED and was scheduled for a one-week outpatient follow-up, at which point her symptoms had completely resolved. No bloodwork was done at this follow-up.",
"gender": "Female"
}
] |
PMC10838114
|
[
{
"age": 14,
"case_id": "PMC10807322_01",
"case_text": "The patient was a castrated male American Shorthair cat, approximately 14 years old, weighing 3.4 kg. The cat had chronic kidney disease (CKD) for at least 2 years and was classified as International Renal Interest Society stage 3 approximately 1 month prior. The cat was treated with the prostacyclin analogue beraprost sodium (Rapros; Toray Industries) at a dose of 55 mug q12h PO and fluid replacement therapy (60 ml of lactated Ringer's solution) every other day. The patient was prescribed oral diazepam (diazepam tablets TOWA; Towa Pharma International Holdings) at a dose of 0.147 mg/kg as needed to stimulate its appetite. On day 1, the patient was admitted to the hospital for intermittent lethargy, wobbling for a month and a generalised seizure 3 days before admission. Physical examination revealed a body condition score of 2/5, with mild dehydration. Blood examinations were conducted using a Dimension EXL 200 (Siemens) and a ProCyte Dx analyser (IDEXX Laboratories). The results are presented in Table 1 and Figure 1. The cat was hypoglycaemic, with findings consistent with renal failure (blood urea nitrogen [BUN] >140 mg/dl; creatinine [CRE] 6.17 mg/dl). Non-regenerative anaemia (haematocrit [HCT] 24%; haemoglobin [HGB] 7.4 g/dl) was also detected. The patient's blood glucose level was 64 mg/dl. Thoracic radiography and abdominal ultrasonography revealed no significant abnormalities except for bilateral renal atrophy. Based on the results of these clinical tests, daily fluid therapy and an injection of darbepoetin alpha (5.0 mug IM, Nesp Injection Plastic Syringe; Kyowa Kirin Frontier) were administered to improve the clinical signs of CKD.\nThe patient revisited the hospital on days 6 and 8. Although the levels of HGB, HCT, BUN and CRE improved, clinical signs, such as lethargy and wobbling, did not improve. The blood glucose level was 49 mg/dl on day 8, and the insulin level was 1.78 ng/ml (reference interval [RI] 0.27-0.69 ng/ml; Fuji Film Vet Systems). The amended insulin:glucose ratio (AIGR) was 24.5. The RI for AIGR has not been established for cats, but a cut-off level for dogs (<30.0) has been applied to prior cat cases, albeit without documentation. Furthermore, the actual value ideally would be established by each reference laboratory. Taken together, insulinoma was suspected in this case. Frequent feeding for over five times/day and prednisolone at a dose of 0.67 mg/kg were started on day 8. Although the blood glucose level initially increased (81 mg/dl on day 10), the hypoglycaemia progressively became more severe several weeks later. Although prednisolone was increased to a dose of 1.34 mg/kg/day, the blood glucose level was 24 mg/dl, and the fructosamine level was approximately the lower limit of normal at 177 micromol/l (RI 172-349; Fuji Film Vet Systems). On day 33, an isoechoic nodular mass measuring 6.2 x 6.6 mm was observed in the pancreatic body (Figure 2).\nAfter informed consent was obtained from the owner, diazoxide (diazoxide capsule 'OP'; OrphanPacific) was additionally prescribed at a dose of 5.2 mg/kg q12h, which is known as a starting dose for dogs and ferrets. After starting diazoxide medication, the cat's activity improved, and neurological abnormalities, such as wobbling and seizures, completely disappeared. Hypoglycaemia also improved. On day 45, 13 days after the start of diazoxide treatment, the blood glucose level was 103 mg/dl. On days 51-93, which were 19-61 days later, the blood glucose level was in the range of 73-105 mg/dl. The fructosamine level increased to 230 mumol/l on day 65. Subsequently, the blood glucose and fructosamine levels gradually decreased but were still maintained at over 50 mg/dl and 200 mumol/l, respectively, until day 170.\nSeveral adverse events were observed during diazoxide treatment. The patient continued to experience intermittent vomiting once every 2-3 days. Non-regenerative anaemia (HCT 18% and HGB 7.0 g/dl) was apparent 19 days after starting diazoxide treatment, whereas the respective values had been 32.3% and 11.6 g/dl before treatment. Anaemia was controlled by a subcutaneous injection of darbepoetin alpha. Loss of appetite and anorexia related to diazoxide administration were not observed.\nWeight loss persisted, and dehydration occurred intermittently throughout the observation period. Blood CRE concentrations gradually increased, and oliguria/anuria developed on day 190. The cat died on day 193, which was 161 days after the start of diazoxide administration. A pathological autopsy revealed one visible nodule and several small nodules in the pancreatic body. Immunohistochemistry of the pancreatic nodules showed staining for chromogranin A and insulin, indicating insulinoma as the definitive diagnosis. Renal atrophy, sclerosis of the glomeruli, severe fibrosis of the medulla and cortex, and infiltration of inflammatory cells were observed in both kidneys.",
"gender": "Male"
}
] |
PMC10807322
|
[
{
"age": 35,
"case_id": "PMC10851651_01",
"case_text": "The patient, a 35-year-old woman, underwent an extended hospital stay, which is a consequence of enduring severe head trauma resulting in a permanent injury. Due to long-term antibiotic therapy administration need, a 16-cm CVC was inserted into the right internal jugular vein, guided by ultrasound. \nOur case, in which the guidewire insertion was performed by a resident experienced in central vascular accesses, underscores that such complications can arise even under the supervision of skilled personnel . While the surgical procedure proceeded without other incidents, upon conducting an equipment check at the surgical table, the absence of the guidewire was noted. A point-of-care ultrasound was performed, which revealed the presence of the guidewire in the IVC and the absence of any cardiac complications. Chest and abdominal X-rays were immediately requested to document the position of the guidewire and its integrity (Figures 1, 2).\nTaking into account the patient's precarious clinical state, an interhospital transfer was considered excessively risky if the patient's clinical situation could be promptly resolved within the hospital facilities. The surgical team considered the use of the N-Gage device, commonly used in urology for the removal of calculi, for guidewire extraction from the patient's vascular system .\nThe N-Gage, typically featuring a wire basket for capturing and removing urinary tract stones, was repurposed to retrieve the guidewire from the IVC. Prior to this unconventional usage, and because of the lack of similar previously reported cases in the literature, an extensive evaluation of the ethical and safety implications was undertaken, which included a risk-benefit analysis of employing the N-Gage off-label and obtaining informed consent that detailed the non-standard nature of the impending procedure.\nMeticulous planning preceded the adaptation of the N-Gage for vascular use. This involved ensuring the device's compatibility with the venous system and sterility for intravascular application. The extraction procedure was closely monitored using fluoroscopy, facilitating precise tracking of the guidewire and the N-Gage. The team exercised exceptional caution during the manipulation of the N-Gage to avert vascular injury, given its original design for a different anatomical context.\nThroughout the procedure, the patient's vital signs were rigorously monitored, and the medical team was prepared to manage potential complications promptly. Following the successful retrieval of the guidewire, comprehensive post-procedure care, including monitoring and imaging exams, was conducted to confirm the absence of complications such as hemorrhage or embolism.",
"gender": "Female"
}
] |
PMC10851651
|
[
{
"age": 17,
"case_id": "PMC11421430_01",
"case_text": "The patient, a 17-year-old female, was admitted to the hospital on February 19, 2023, with symptoms of fever, headache, and left limb weakness over the course of one day. The onset of headache, primarily on the right side, preceded admission, accompanied by a fever peaking at 39.0 C, as well as nausea, vomiting, and left limb weakness. Vomiting consisted of non-coffee-colored stomach contents. The initial diagnosis at the local hospital was encephalitis. Various diagnostic tests, including cranial magnetic resonance imaging (MRI), blood routine examination, myocardial enzymes, blood glucose, liver function, renal function, blood lipids, blood homocysteine, coagulation function (five items), glycosylated hemoglobin, myocardial infarction markers (three items), procalcitonin, and pro B type natriuretic peptide (proBNP), revealed no significant abnormalities. The patient had a history of unexplained fever and left limb weakness following startling incidents. Upon admission, the physical examination indicated a blood pressure of 110/65 mmHg, drowsiness, unresponsiveness, unclear speech, and incomplete lateral deviation to the right side in both eyes without noticeable nystagmus. Pupillary responses were isocoric and light reflexes were sensitive, with symmetrical bilateral frontal lines and nasolabial folds. Gross measurements revealed grade 0 muscle strength in the left upper limb, grade 3 muscle strength in the left lower limb, and grade 5 muscle strength in the right limbs. Subsequently, a Babinski sign (+) on the left side, and neck resistance was noted (+).\nFollowing admission, a lumbar puncture was conducted, and an array of diagnostic tests were performed on cerebrospinal fluid, including routine examination, detection of Cryptococcus neoformans capsular antigen, ink staining, assessment of immunoglobulin levels, TORCH-IgM/IgG, Brucella antibody detection, Brucella agglutination test, antineutrophil antibody detection, qualitative detection of antinuclear antibodies, antinuclear antibody spectrum, human immunodeficiency virus (HIV) and syphilis antibodies, thyroid function, erythrocyte sedimentation rate, and C-reactive protein (CRP). Results revealed no evident abnormalities. Cranial MRI indicated localized meningeal thickening in bilateral cerebral hemispheres with enhanced signals, suggestive of potential inflammation (Figure 1). The provisional diagnosis upon admission was to exclude central nervous system infection. Symptomatic treatments, including analgesics, antivirals, antipyretics, and rehydration, were administered. \nOn the fourth day, the patient experienced grand mal epilepsy, characterized by unconsciousness, leftward eye deviation, mouth twitching, limb convulsions, unresponsiveness, foaming at the mouth, increased heart rate, and decreased blood oxygen saturation. After three consecutive episodes, the patient was transferred to the neurological intensive care unit. Cerebral non-contrast scanning revealed swelling of the right cerebral hemisphere cortex, raising the possibility of inflammatory diseases, particularly meningoencephalitis (Figure 1). Anti-epileptic therapy with sodium valproate, anti-infection therapy with ceftriaxone, antiviral therapy with ganciclovir, and dehydration treatments were initiated.\nBy the 10th day post-admission, the patient's condition improved. Further inquiry into the medical history revealed a history of right-sided headache and left-sided limb weakness lasting 4 to 6 hours, which was spontaneously relieved. Considering the clinical manifestations and medical history, hemiplegic migraine was considered, leading to the prescription of flunarizine for prevention, and a gradual reduction in sodium valproate dosage. After one month of follow-up, the patient fully recovered. Genetic testing revealed a nucleotide change (exon number) c.2998 (exon22) G>A, amino acid change p.E1000K (p.Glu1000Lys) at chromosome position chr1:160109738, and this is an autosomal dominant pattern. Due to the patient being an adoptee with no available family history or samples, it was challenging to clearly differentiate between familial hemiplegic migraine (FHM) and sporadic hemiplegic migraine (SHM).",
"gender": "Female"
}
] |
PMC11421430
|
[
{
"age": 19,
"case_id": "PMC10836450_01",
"case_text": "A 19-year-old female patient presented with a 1-year history of left flank discomfort, accompanied by a progressively enlarging swelling in the left flank. The patient did not report hematuria, urinary symptoms, or other systemic complaints. Ultrasonography, chest X-ray, and contrast computerized tomography (CT) scan of the abdomen and pelvis revealed a large, enhancing irregular mass of size 15.9 cm x 15.1 cm x 16.2 cm arising from the upper pole of the left kidney, with compression of the pancreas and involvement of the renal sinus [Figure 1]. Subsequent laboratory investigations ruled out hormonal abnormalities related to the adrenal gland. The patient underwent left open radical nephrectomy, during which a large renal mass measuring 12 cm x 15 cm was identified. Intraoperative findings demonstrated preserved planes and dilated splenic veins with collateral formation. Postoperatively, the patient developed a pancreatic fistula, which was managed conservatively.\nGross examination revealed a large tumor measuring 16 cm x 14 cm x 11 cm and replacing the upper and mid pole of the kidney. The outer surface was bosselated; however, the tumor was not breaching the renal capsule. Cut surface showed large areas of necrosis and hemorrhage. The tumor was infiltrating the renal sinus. Microscopic examination showed an unencapsulated tumor with significant areas of dystrophic calcification in the periphery. The tumor cells were predominantly arranged in nested and alveolar patterns. On higher magnification, the tumor cells were large and polygonal with sharply demarcated cell borders, abundant granular eosinophilic cytoplasm, vesicular chromatin, and prominent nucleoli. Periodic acid-Schiff (PAS) stain demonstrated fine granular cytoplasmic positivity that disappeared with diastase treatment in most of the tumor cells. Few of the cells demonstrated scattered PAS-positive, diastase-resistant cytoplasmic granules [Figure 2]. Based on morphological features, possibilities of cellular angiomyolipoma, renal cell carcinoma, adrenocortical carcinoma, and ASPS were considered.\nTumor cells showed immunopositivity for TFE3 and cathepsin K, while other markers such as pan-cytokeratin (CK), epithelial membrane antigen, HMB45, melan-A, inhibin, PAX8, CA-IX, calretinin, CK7, CK20, CD117, S100, AMACR, MITF, and ALK were negative [Figure 3]. SDH-B immunoexpression was retained. Ultrastructural examination revealed well-developed smooth endoplasmic reticulum, prominent Golgi apparatus, occasional neurosecretory granules, and numerous needles to rhomboid-shaped crystalline structures [Figure 3]. Based on these findings, a diagnosis of ASPS was established.\nPostoperatively, the patient developed pancreatic fistula, which was managed conservatively. A positron emission tomography-CT (PET-CT) scan was performed at 3 months, which revealed metastasis to the left lung, not seen during initial evaluation, along with recurrence in the left renal bed. Subsequently, the patient was started on sunitinib, a tyrosine kinase inhibitor. She is currently under follow-up, and further imaging and clinical evaluations will be conducted to assess the response to treatment and disease progression.",
"gender": "Female"
}
] |
PMC10836450
|
[
{
"age": 51,
"case_id": "PMC11177737_01",
"case_text": "A 51-year-old male known to be COVID-19 positive confirmed by polymerase chain reaction (PCR) testing presents to the emergency department with headache, chest pain, and worsening shortness of breath. His past medical history includes hypertension, type II diabetes mellitus, and overweight (BMI = 29.5 kg/m2). Patient is intubated in the emergency department secondary to respiratory failure. Initial sedatives used for intubation include fentanyl, propofol, and etomidate. Patient experiences initial fever of 37.8 C due to COVID-19 infection. He starts a 5-day course of ceftriaxone/azithromycin and completes 3 days prior to return of fever.\nSedation medications over the course of his admission include etomidate, propofol, and dexmedetomidine. On the 13th day of intubation, dexmedetomidine is titrated to a maximum dose of 1.5 mcg/kg/h at a rate of 37.65 mL/h (see Figure 1). Nearly 1 day later, the patient becomes febrile at 38.4 C (see Figure 2). Cefepime/vancomycin is started the same day. Urine antigens negative for Streptococcus and Legionella, whereas respiratory cultures 1 day later indicate light growth of Pseudomonas putida with rare polymorphonuclear neutrophils (PMNs). Procalcitonin levels continue to downtrend.\nFive hours following fever onset, the patient reaches a maximum temperature of 42.6 C (see Figure 3). Dexmedetomidine is discontinued on April 4, 2020 6:59 p.m. (see Figure 3). Following discontinuation, the patient's temperature begins to decline and returns to baseline 9 hours later (see Figure 3). The patient's temperature remains stable between 36.7 and 38.7 C during the remainder of hospitalization and controlled with acetaminophen. External cooling continued until 4 days after the fever spike.",
"gender": "Male"
}
] |
PMC11177737
|
[
{
"age": 0,
"case_id": "PMC10680476_01",
"case_text": "A two-day-old neonate was brought to the hospital with an absent penis. The baby was born to a 34-year-old primigravida mother with no antenatal follow-up. The delivery was at home and the baby cried immediately after birth. He was sucking well after birth, but failed hours later. The infant was tachypneic and, had subcostal and intercostal retraction, bilateral fine crackles on auscultation, and respiratory distress. He was 2.8 kg weight at the time of arrival. Absent penis, well-formed scrotal rugae, and normally descended bilateral testis (Figure 1). The urethral opening was absent in the perineum and scrotal folds. The urine passes through the rectum, but it is difficult to localize the urethral orifice in the rectum. The anal opening and sphincter were normal. The results of other system examinations were normal. \nThe white blood cell count was normal for age, serum electrolytes were within the normal range (sodium 142meq/l and potassium 4.8meq/l), and serum creatinine was 2.8_mg/dl. Abdominal ultrasonography revealed a horseshoe kidney and bilateral ureterohydronephrosis on the bedside. The echocardiographic findings were normal. Because the patient was critical and had no portable X-rays, chest X-rays, and other sophisticated investigations were not performed. The patient was resuscitated and tried to stabilize, but died after a 2-hour stay in the neonatal intensive care unit because of neonatal distress syndrome. The family refused postmortem examination.",
"gender": "Male"
}
] |
PMC10680476
|
[
{
"age": 0,
"case_id": "PMC10834024_01",
"case_text": "A two-month-old male infant with uncomplicated gestation, born at 38 weeks via C-section initially presented to the emergency room with restricted right arm movement for two days. No significant family history was provided. On physical examination, the right upper extremity was generally weaker compared to the left with a full passive range of motion. No history of trauma or evidence of child abuse was noted. Laboratory values were within normal limits. Radiographs of the right upper extremity and chest were obtained without evidence of fractures or acute pulmonary disease (Figures 1, 2). Findings of right scapular hyperostosis, sclerosis, and expansion were overlooked in the initial presentation. The patient was discharged home with a neurology follow up which resulted in a prescription for physical therapy and an order for a brachial plexus MR for further neurological evaluation.\nThree days following the initial ED visit, the patient returned with right arm hemiparesis, right shoulder swelling, and fever with only partial symptomatic relief with acetaminophen. While the physical exam remained unchanged, the patient had a high-grade fever of 102.5 F and leukocytosis up to 19,000. Inflammatory markers were elevated, with an erythrocyte sedimentation rate (ESR) of 64 (reference range: <10) and a C-reactive protein level of 15.3 mg/dL (normal <10 mg/L), indicative of mild to moderate inflammation. Other workups included a negative respiratory viral panel and an ultrasound of the right shoulder which did not demonstrate a fluid collection/joint effusion. The patient was admitted with a working diagnosis of possible septic arthritis/ osteomyelitis and was started on broad-spectrum antibiotics.\nAt this time, a skeletal bone survey demonstrated hyperostosis of the right scapula without additional sites of osseous involvement (Figure 3), which in retrospect, was present on initial radiographs. These findings were observed by a consulting pediatric radiologist who first suggested the diagnosis of Caffey disease. A concomitant MRI, this time requested by orthopedic surgery to rule out osteomyelitis, demonstrated prominent periostitis of the scapula with extensive surrounding intramuscular edema (Figure 4) without bony erosion or abscess formation. Given the lack of shoulder joint effusion on ultrasound and MR, as well as negative blood cultures at 48 hours, the possibility of septic arthritis was ruled out and antibiotics were discontinued. Symptomatic improvement with conservative management and NSAIDs further supported the diagnosis of Caffey disease. On follow-up, the patient continued to do well at home with complete symptomatic resolution. The parents did not wish to pursue further workup or treatment, declining nuclear medicine imaging and genetic testing.",
"gender": "Male"
}
] |
PMC10834024
|
[
{
"age": 41,
"case_id": "PMC11217575_01",
"case_text": "The case report, approved by the Public Institutional Review Board appointed by the Ministry of Health and Welfare (P01-202310-01-040), incorporates the patient's submission of a legally binding consent form. A 41-year-old male patient presented with an aesthetic complaint from soft tissue pigmentation on the maxillary anterior region. Regarding past medical history, he had never been diagnosed with any particular disease and had never taken any significant medications. He was a nonsmoker. No other pathological findings other than the gingival tattoo were observed. He had a habit of sticking his gum with a pencil when he was young (Figure 1(a)). Upon clinical observation, grayish black macules were observed, extending from the interdental papilla and marginal gingiva to the apex of the maxillary left central incisor and lateral incisor (Figure 2(a)). We diagnosed the lesion as a graphite tattoo. In order to prevent recurrence, we planned to use the push-back method to remove the entire mucosa above the alveolar bone (Figure 1(b)) and then to cover the exposed alveolar bone with a PRF membrane to induce migration of gingival fibroblasts from adjacent keratinized gingiva (Figure 1(c)).",
"gender": "Male"
}
] |
PMC11217575
|
[
{
"age": 79,
"case_id": "PMC10823318_01",
"case_text": "A 79-year-old man with CLL, polymyalgia rheumatica, and hyperlipidemia was admitted with hyperbilirubinemia (total bilirubin 2.8 mg/dl), and transaminitis (AST 736 U/l, ALT 1023 U/l) one month after switching from ibrutinib to acalabrutinib. Presenting symptoms included a 1-week history of fatigue, malaise, abdominal pain, nausea, vomiting, diarrhea, and a new rash. Physical examination showed multiple yellow urticarial plaques on the back, right arm (Fig. 1A), and left thigh. Dermatology was consulted and performed a shave biopsy of the rash. Histopathology revealed perivascular and interstitial dermatitis consistent with urticaria (Fig. 1B). Viral hepatitis and congestive hepatopathy were excluded, suggesting acalabrutinib-induced liver injury with yellow urticaria as a presenting sign. Acalabrutinib was discontinued and treatment began with cetirizine 20 mg twice daily and diphenhydramine nightly as needed. At one month follow-up, the rash had resolved and transaminase levels normalized. Yellow urticaria is a rare variant of urticaria caused by transient vascular permeability and deposition of bilirubin in the skin forming wheals. Hyperbilirubinemia due to hepatitis, cirrhosis, acute liver failure, and metastatic liver disease may result in yellow urticaria. Diagnosis of yellow urticaria is clinical and treatment is symptomatic. In this case, acalabrutinib was likely the catalyst for developing liver injury and yellow urticaria which both resolved upon discontinuation of the drug. Asymptomatic or mild elevations in serum aminotransferase levels are a known adverse effect of acalabrutinib, but severe elevation to above 5 times ULN only occurs in 2%-3% of patients and rarely results in drug discontinuation. The patient continues to follow with hematology and has deferred resuming treatment for their CLL.",
"gender": "Male"
}
] |
PMC10823318
|
[
{
"age": 61,
"case_id": "PMC10917428_01",
"case_text": "A 61-year-old woman with a history of hEDS presented with a 4-week complaint of new-onset early morning wake-up headaches. She was well known to our practice as we had been treating her for the past 3 years for chronic migraine with onabotulinumtoxin A. Her baseline headaches were very well controlled with this treatment. She began with migraines in her 20s and had evolved into chronic migraine by her 40s. She was diagnosed with hEDS at an academic hypermobility specialty clinic utilizing the 2017 International Classification of the Ehlers-Danlos Syndromes criteria.\nSuddenly during the spring season, she started to awaken around 12:00 a.m. with severe holocranial head pressure, 10/10 on the visual analog scale. These headaches lacked any associated symptoms including vertigo, dizziness, and tinnitus. They were completely unlike her migraine headaches. She had never experienced nocturnal-based head pain prior to this occurrence. She denied any triggering event for the new sleep-associated headaches such as travel, excessive Valsalva maneuvers, change in medication, or a viral illness. She did not snore and was never observed to have apnea spells. She had been underweight most of her life. From the outset, she would have early morning headaches 2-3x per week. She could not predict the nights that they would occur as she went to sleep those evenings without head pain or pressure. She typically went to bed about 10:30-11:00 pm and the headache would initiate 60-90 min post-sleep. She slept on one pillow and had not changed this routine. What was very evident was the positionality of the pain. If she remained in bed, the pain would continue to worsen, but if she got up from the supine position and either walked around or sat upright the pain would eventually dissipate, sometimes taking several hours to do so. Having her head hang off the bed or just trying to lie back down would exacerbate the head pressure. Sometimes she would take over-the-counter medications or a triptan or a ketorolac which she had as a rescue medication for her migraines, but they did not relieve her symptoms. Eventually she began to sleep upright in a lounge chair to prevent the headaches from occurring, which worked on most occasions.\nHer neurologic examination was normal and there was no evidence of papilledema on fundoscopic examination, which was verified by ophthalmology. Her BMI was 15.7. She demonstrated cervical and systemic hypermobility consistent with her diagnosis of hEDS. She underwent neuroimaging to rule out secondary pathology including MRI brain with and without gadolinium, MR angiography of the intra- and extracranial blood vessels as well as an MR venogram and all these studies were negative. As the headaches awoke her from sleep and worsened laying down, the possibility of elevated CSF pressure as the underlying cause was suggested, with a less likely paradoxical presentation of intracranial hypotension especially with no imaging findings to suggest this diagnosis. She also checked her blood pressure during attacks and there was no evidence of nocturnal hypertension. It was also feasible this was an atypical presentation of hypnic headache. She was started on indomethacin 75 mg sustained release at bedtime, and this helped reduce the frequency for a short period of time but did not completely abolish the headaches and eventually the headaches broke through this dose. The dose could not be increased as she developed gastrointestinal intolerance, so indomethacin was stopped. Acetazolamide was then prescribed, initially a low dose of 125 mg at bed with an increase every 5 days if headaches continued. Eventually on 500 mg extended release at bedtime, her headaches basically ceased. In addition, she purchased an adjustable bed and kept her head elevated while sleeping, which also seemed to improve her symptoms. She had some side effects from acetazolamide (paresthesias, shortness of breath), but she wanted to remain on the medication as the wake-up headaches were very disabling. She would try to taper off at least several times per year but always with headache recurrence.\nAbout 2.5 years into this new headache syndrome, our group had become interested in the role of NP and spinal EVP in hypermobile women with daily persistent pressure-like headaches. Our case patient did not have persistent head pain, but she was very reminiscent of our other patients. Thus, we decided to evaluate her for LRV compression and possible spinal EVP congestion with a novel time resolved abdominal MRI. This study demonstrated moderate compression of the LRV by the aorta and superior mesenteric artery (shown in Fig. 2a) with retrograde flow through the L2LV and opacification of the spinal EVP suggesting congestion (shown in Fig. 2b-d). Eventually 4 years after the onset of her early morning headaches, the patient underwent conventional venography that confirmed NP with spinal EVP congestion (shown in Fig. 2e). The L2LV was then coil embolized and a follow-up venogram from the LRV demonstrated no further flow into the L2LV or the EVP (shown in Fig. 2f). Prior to the venogram, the patient gave consent for the coil embolization procedure. On the morning after the embolization, she awoke completely head pressure free. What she then recognized was that at some point maybe 1-2 years after the onset of her early morning wake-up headaches she had probably transitioned into having a persistent low-grade head pressure sensation all the time and that she could only recognize that now because the sensation was completely gone after the procedure. During the next month, she slowly tapered off acetazolamide experiencing days of complete pain freedom, while on other days she experienced some headaches reflecting high CSF pressure, and on other days the symptoms of intracranial hypotension (better supine and worse upright). She was alerted that this CSF pressure adjustment phase had been observed in other patients after lumbar vein coil embolization. She is now 7 months post-coil embolization and 6 months off acetazolamide and her headaches (wake-up and persistent head pressure) are completely gone. Her migraines remain well controlled on onabotulinumtoxinA. She had no procedure-related side effects. Physically, she recovered within 48 h post-procedure. She was very happy with the response and reported it as \"life changing.\" Of note, she had been offered coil embolization 1 year prior, but she wanted to see how our other patients did with the procedure before undergoing it herself. The CARE Checklist has been completed by the authors for this case report, attached as online supplementary material (for all online suppl. material, see https://doi.org/10.1159/000537705).",
"gender": "Female"
}
] |
PMC10917428
|
[
{
"age": 0,
"case_id": "PMC10796452_01",
"case_text": "The proband, 6 month old boy, and his parents underwent a detailed clinical examination and genetic investigation at the Research Center for Medical Genetics, Moscow, Russia.\nAll research participants gave informed consent for the clinical examination and publication of their anonymized data. The study was performed in accordance with the Declaration of Helsinki and approved by the Institutional Review Board of the Research Center for Medical Genetics., Moscow, Russia.\nThe whole genome sequencing of the proband's DNA sample, obtained from peripheral blood, was conducted in-house. DNA extraction from whole blood was carried out using the Quick-DNA Miniprep Kit (Zymo Research, California, United States), following the manufacturer's protocol. To assess DNA purity, absorbance measurements were taken at both 260/280 nm and 230/260 nm using a DS-11 FX + spectrophotometer/fluorometer (DeNovix, Wilmington, United States).\nLibrary preparation (PCR-Free) was performed using MGI platforms following their respective protocols. Subsequently, paired-end sequencing (2 x 150) was executed on the DNBSEQ-T7 platform from MGI. The data processing was carried out using \"NGSData-Genome\" program (Beskorovainy N.S. Program \"NGSData\"//Certificate of NGSData-Genome\"//Certificate of State Registration of Computer Programs No. 2021662119.2021.) The reads were aligned to the reference genome hg19 using bwa v.0.7.17-r1188. Variants calling was performed with strelka2 v.2.9.10 and gatk v.4 algorithms. Calling of copy number variations were assessed using the cnvkit 0.9.9, while structural variants were detected with Manta v.1.6.0. Additionally, tandem repeats were analyzed using ExpansionHunterDenovo. Variant annotation-SnpEff v5.0, annovar v.2017, vep v.104.3. Splice predictors-dbNSFP v.4, SPiP v.2.1, mmsplice v.2.3, spliceai v.1.3.1, spidex v.1.\nValidation of the obtained results and segregation analysis were conducted using PCR with two primer pairs designed to amplify the reference locus (5'-AACAAAATCAAGAGAGCCAAAGA-3', 5'-GGCCAGTAATTTACCCAAGG-3') and the locus at the border of the reference and duplicated regions (5'-TGCCACCCCCACTATTTTAC-3', 5'-TTCTTCTAGGAAATAATGGAGAATGTT-3'). The DNA samples from the proband's peripheral blood, his parents, paternal grandmother, grandfather, great-grandmother, and paternal aunt were used as templates. The PCR was conducted using ProFlex PCR System (Applied Biosystems, California, United States). The visualization of the PCR products obtained was carried out using agarose gel electrophoresis. The level of mosaic deletion in the proband's paternal grandmother's blood sample was assessed densitometrically.",
"gender": "Male"
}
] |
PMC10796452
|
[
{
"age": 31,
"case_id": "PMC11392889_01",
"case_text": "A 31-year-old female presented with a one-week history of slight pharyngeal discomfort and choking cough while lying supine. She had an occasional audible whistle when she spoke loudly. Her symptoms worsened after eating fish with black beans 3 days previously. Computed tomography (CT) performed at another hospital detected multiple polypoid lesions in the middle bronchus of the right lung, the largest measuring approximately 0.7 cmx0.7 cmx0.6 cm ( Figure 1 ). The tumors exhibited well-defined borders and homogeneous density. The walls of bronchi were smooth. She was admitted to the emergency department of our hospital due to suspicion of a foreign body in the bronchi. The initial diagnosis was ruled out after scanning the CT images. Tuberculosis was suspected based on the patient's age. Infection-related laboratory tests and serum tumor markers were normal. She denied any prior history of fever, recent chest trauma, contact with tuberculosis, or exposure to toxins. Her family denied a history of malignancy. The vital signs were stable, the thoracic contour was normal; there were no dry or moist rales and pleural friction sounds. More prevalent low-grade malignant tumors, such as squamous-cell carcinoma, mucoepidermoid carcinoma, and carcinoid tumor, which prompted bronchoscopic biopsy, were also doubted. Bronchoscopy revealed grey-white polypoid masses based on the wall of right middle bronchus. The lesions partially obstructed the middle bronchus with no evidence of invasion ( Figure 2A ). Transbronchial needle aspiration was performed and histological results revealed typical small blue tumor cells without necrosis and then the patient was referred to West China Hospital for further treatment. Right bronchial sleeve resection was performed, and polypoid endobronchial nodules were observed, the largest measuring approximately 1.0 cmx1.0 cmx1.0 cm. Grossly, the tumors appeared to be in situ, however, microscopically, they infiltrated the submucosa, muscles, and cartilages. No perineural, vascular, or lymphatic invasion was observed. Hematoxylin and eosin (H&E) staining revealed monomorphic population of small blue cells with variably conspicuous nucleoli and scant cytoplasm ( Figure 2B ). Immunohistochemistry analysis demonstrated strong positivity for CD99, NKX2.2, CD56, P63, INI-1, and negativity for PCK, Syn, CgA, EMA, DSE, Myogenin, S100, SMA, WT-1, LCA, CK8/18 ( Figures 2C-E ). The Ki-67 labeling index was approximately 50% ( Figure 2F ). Fluorescence in situ hybridization (FISH) for EWSR1 gene translocation was positive, and next-generation sequencing confirmed EWSR1-FLI1 gene fusion. ECT, MRI of the head and neck and multisite ultrasonography results were normal. Therefore, this tumor was eventually identified as a primary endobronchial ES. The patient underwent 17 courses of chemotherapy after resection including 2 alternating blocks: VDC (vincristine 2 mg/m2, doxorubicin 60 mg/m2, cyclophosphamide 200 mg/m2, respectively, on day 1, every 4 weeks) and IE (ifosfamide 2600 mg/m2, etoposide 150 mg/m2, respectively, on days 1 to 5, every 4 weeks). The radiotherapy was not performed. Chest CT, abdominal MRI, and bronchoscopy were performed annually. At the 48-month follow-up after the operation, the patient remained disease-free.",
"gender": "Female"
}
] |
PMC11392889
|
[
{
"age": 54,
"case_id": "PMC11239229_01",
"case_text": "This case highlights a 54-year-old male with a past medical history of hypertension, chronic back pain, and depression who needed assistance with outpatient detoxification from phenibut. He first came across phenibut while searching online for a nootropic to help with \"thinking and memory.\" He stated it initially worked well, however, he eventually developed a tolerance and increased his dosage up to 14 g/day. He attempted to self-taper but developed hallucinations and severe anxiety. He was hospitalized for 3 days due to withdrawal symptoms and was discharged on lorazepam. He reported no concurrent substance use at the time and was solely taking phenibut. Due to the COVID-19 pandemic occurring at this time, a referral for outpatient detoxification was made.\nAt the initial assessment, the patient was taking 8 g/day of phenibut and 3 mg/day of lorazepam. Over 5 months, he was able to slowly taper off phenibut completely in the outpatient setting (Table 1). He was initially started on a baclofen taper as well as both gabapentin and clonidine as adjuncts for withdrawal symptoms including anxiety, irritability, blood pressure spikes, and other hyperadrenergic symptoms. Once the patient reached the maximum dose of baclofen (80 mg/day), lorazepam was increased incrementally as phenibut was tapered to target withdrawal symptoms. Throughout this time, the taper was complicated by various symptoms including spikes in blood pressure, hallucinations, dizziness, akathisia, diaphoresis, irritability, and anxiety. The patient was stabilized on the following doses: lorazepam 6 mg QID (24 mg/day), baclofen 20 mg QID (80 mg/day), gabapentin 300 mg TID, and clonidine 0.1 mg TID PRN.\nOnce off of phenibut, lorazepam was slowly tapered over 14 months. He was taking up to 24 mg total daily of lorazepam at the height of his withdrawals during phenibut detoxification. The patient currently remains on baclofen 80 mg/day. Attempts to taper off of baclofen have been unsuccessful due to symptoms similar to what was experienced during withdrawal from phenibut (e.g., anxiety, irritability) but to a much lesser extent. For that reason, adjunctive therapies to target underlying anxiety, such as buspirone and fluoxetine, were initiated with some success. However, despite these difficulties with baclofen dependency, the patient has remained off of phenibut since 11/2020 and is content with this outcome.",
"gender": "Male"
}
] |
PMC11239229
|
[
{
"age": 53,
"case_id": "PMC10834674_01",
"case_text": "A 53-year-old female patient presented to our hospital complaining of continuous urine leakage from the vagina as a result of an abdominal hysterectomy that was performed at a local hospital due to cervical cancer (the patients did not undergo a radiotherapy) two years prior. Urine leakage from the vagina occurred in perioperative period and the VVF was diagnosed at that time, the patient needed two pads one day. Half a year later, she underwent an open abdominal transvesical repair of the fistula (the VVF was located at the apex of the vagina, a conventional transvaginal repair would likely fail) at another medical center. However, urinary leakage persisted following surgery and the patient still need one pad one day. There were no other chronic comorbidities for the patient. Due to the high location of the VVF, it could be challenging to adequately expose and suture the fistula correctly through a conventional transvaginal approach. Attempting a transabdominal or laparoscopic approach would also be problematic due to extensive adhesions and anatomical distortion. Considering these challenges, a novel technique called transvaginal single-port laparoscopic VVF repair was deemed appropriate. The patient was fully informed about this new approach and provided written consent for the surgery and potential publication of the case.\nAfter general anesthesia, the patient was placed in the lithotomy position. A 22 F cystoscope was used to begin the procedure in the bladder. The bilateral ureteral orifices were seen clearly, and a 6 F ureteric catheter was inserted into the ureter. However, the fistula opening was not found. A single-port laparoscope was introduced into the vagina, and the vagina was expanded by insufflation with CO2 at 6-8 mmHg pressure (Figure 1A). The laparoscope showed the closed apical vagina but no fistula. Methylene blue solution that was injected into the bladder through a Foley catheter immediately gushed from the apex of the vagina, thereby revealing a 4 mm fistula. After removal of the single-port laparoscope, a 20 F Foley catheter was inserted into the vagina, and the balloon was filled with 60 ml of saline solution. Gauze soaked with iodophor was placed in the vagina. Methylene blue solution was injected through the Foley catheter, and the cystoscope showed methylene blue gushing from the right side of the bladder trigone region, the fistula was 3 cm away from the right ureteral orifice. Then, the scar tissue around the fistula was removed by making a 0.5-cm incision using a needle electrode (Figure 1B). A ureteric catheter was passed, under direct vision, from the bladder to the vagina through the VVF (Figure 1C). The single-port laparoscope was reintroduced into the vagina to allow mucosal and muscular excision of 1-cm vaginal scar tissues surrounding the fistula using scissors (Figure 1D). The fistula tract was shaped like a trumpet (Figure 1E). Finally, single-layer closure of vesical and vaginal fistulas was performed using 3-0 V-Loc barbed sutures under transvaginal single-port laparoscopic guidance (Figure 1F). We injected diluted methylene blue solution to check for fluid leakage from the anterior wall of the vagina. The vagina was filled with iodophor yarn strips, and the surgery was completed, the whole operation took two hours. There was minimal bleeding and no intra or postoperative complications. The patient was catheterized for two weeks and maintained antibiotic therapy for six days and hospitalized for six days. Figure 2 illustrates the schematic diagram of transvaginal single-port laparoscopic vesicovaginal fistula repair and highlights the key points of the technique. The patient remained asymptomatic with no recurrence of the VVF after a half year.",
"gender": "Female"
}
] |
PMC10834674
|
[
{
"age": 82,
"case_id": "PMC10789900_01",
"case_text": "An 82-year-old woman presented to the emergency department with radiating chest and epigastric pain, extending to the upper and lower back, after providing testimony in court earlier that day. The patient had been taking 5 mg apixaban twice daily due to a diagnosis of atrial fibrillation. She also had a medical history of ischemic heart disease, hypertension and osteoporosis, and had received a cardiac pacemaker eight months prior due to an atrioventricular block. Upon intake, physical examination and initial cardiac workup were remarkable only for elevated systolic blood pressure (189/72 mmHg) and respiratory alkalosis.\nDuring a reevaluation in the emergency room a few hours later, the patient exhibited new bilateral lower extremity weakness, sensory changes, urinary and fecal incontinence, and a positive Babinski reflex. A non-contrast head computed tomography (CT) revealed fluid-blood levels in the occipital horns of the lateral ventricles (Figure 1A), blood in the subarachnoid space of the left posterior fossa and peripheral hyper-density at the craniocervical transition (Figure 1B,1C), suggestive of peri-mesencephalic SAH. Due to worsening neurological symptoms and chest pain, a CT angiography (CTA) of the neck, chest and abdomen was done, to rule out an aortic dissection. No vascular abnormalities were observed on concurrent CTA, however, SSH was demonstrated throughout the spine, most prominent on the non-contrast scans as a hyperdensity surrounding the spinal cord (Figure 2). Magnetic resonance imaging (MRI) scan of the thoracic spine was further done after having the patient's pacemaker programmed appropriately, to assess the extent of hemorrhage and to look for potential etiology. The MRI confirmed SSH hemorrhage with significant cord compression in the thoracic regions T6-T9 (Figure 3). The hemorrhage extended from the cranio-cervical junction to the terminus of the spinal canal and was also evident circumferentially surrounding the entire length of the spinal cord. Notably, there was an area of asymmetrical compression between T6-T9 vertebrae, likely due to a blood clot that had developed in that region, causing significant cord compression in the thoracic region. The intracranial subarachnoid hemorrhagic component further supported the diagnosis. On T2-weighted images, subtle cord signal changes suggest mild myelopathic changes. No etiological factor was identified in neither of the scans.\nPreoperatively, anticoagulant reversal was sought with Prothrombin complex concentrate, and physical examination showed flaccid paraparesis in both legs with a power grading of 0/5 in the L2-L4 myotomes bilaterally, and 1-2/5 power in the L5-S1 myotomes bilaterally. The patient underwent an urgent thoracic laminectomy, which confirmed the presence of hemorrhage in the subarachnoid space. A dorsally located subarachnoid hematoma at T6-T9 level was evacuated. Post-surgery, the patient experienced partial restoration of strength; lower right limb power improved to 4/5 proximally, and 5/5 distally, and 4/5 in the distal left limb, but residual weakness persisted in the proximal left lower limb (1/5). During the post-operative hospitalization, persistent headache and nuchal rigidity prompted an additional CT scan, which showed improvement compared to previous imaging. Subsequently, a lumbar puncture was performed, and antibiotics were initiated. The analysis of cerebrospinal fluid (CSF) was normal, leading to the discontinuation of antibiotics and the diagnosis of chemical meningitis. The patient was then transferred to an in-hospital rehabilitation setting, where she received low molecular weight heparin (LMWH) and underwent a tapering course of steroids. Due to an overall postsurgical improvement post and no vascular abnormality found on imaging or intraoperatively, angiography was not completed.\nAll procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent for publication of this case report and accompanying images was not obtained from the patient or the relatives after all possible attempts were made, due to loss to follow-up.",
"gender": "Female"
}
] |
PMC10789900
|
[
{
"age": 22,
"case_id": "PMC11227683_01",
"case_text": "A 22-year-old man presented with a history of headaches persisting for four months and a gradual loss of vision, more pronounced on the right side, over the past two weeks. NCCT Brain did not reveal any calcifications. Contrast-enhanced brain CT (Fig. 1a) and MRI scans revealed a lobulated, mixed solid-cystic mass in the suprasellar region. This mass was expanding the optic chiasm (Fig. 1C) and T2 hyperintense signal intensity was noted in the right optic tract due to the mass effect (Fig. 1C). The cystic part of the mass displayed increased signal intensity on FLAIR imaging and had a rim of enhanced tissue along its cyst walls (Fig. 1d). The solid portion of the mass had signal characteristics similar to the brain cortex on both T1 and T2 imaging and exhibited intense enhancement after contrast injection (Fig. 1d). There were no signs of restricted diffusion in the mass. The pituitary gland was visibly separate from the lesion. The lesion extended into the interpeduncular cistern posteroinferiorly, causing splaying and compression of the midbrain. The midbrain and basal ganglia are pushed superiorly. There was compression of the anterior third ventricle withydrocephalus. Additionally, FLAIR imaging indicated elevated signal intensity, suggesting oedema along both optic tracts. Magnetic resonance spectroscopy (MRS) with a TE (echo time) of 35 msec showed a significant lipid peak in the solid part of the mass, along with reduced levels of NAA and choline, consistent with a Chernov's type III B spectrum (Fig. 1e). The patient underwent a surgical procedure involving a left pterional craniotomy and subtotal excision of the mass. Subsequent histopathological examination confirmed the diagnosis of papillary craniopharyngioma, classified as WHO grade-1 (Fig. 2).",
"gender": "Male"
},
{
"age": 32,
"case_id": "PMC11227683_02",
"case_text": "A 32-year-old man complained of persistent headaches and a gradual, progressive loss of vision in his right eye spanning the past six months. MR Imaging showed a predominant solid extra-axial suprasellar mass lesion causing mass effect and oedema. The mass was iso-hyperintense on T2-WI and had intense enhancement following gadolinium administration (Fig. 3). MRS performed with echo times of 35 milliseconds, showed an elevated lipid peak within the mass with a reduction of other metabolites, suggesting a diagnosis of papillary craniopharyngioma. Right pterional craniotomy with right orbitotomy was done for gross tumor excision. Subsequent histopathological examination confirmed the diagnosis of papillary craniopharyngioma.",
"gender": "Male"
},
{
"age": 30,
"case_id": "PMC11227683_03",
"case_text": "A 30-year-old lady presented with a gradual and progressive decline in vision in both eyes, with the right eye being more affected than the left over the past 15 months. She underwent surgery for a suprasellar mass 4 months ago. Histopathological examination confirmed it was papillary craniopharyngioma. A follow-up MRI revealed that a predominantly solid suprasellar mass remained, showing similar signal intensity to the surrounding tissue on T2-WI and intense enhancement on post-contrast T1-WI (Fig. 4). MRS conducted with a short echo time of 35 milliseconds indicated elevated lipid peaks alongside a decrease in other metabolites. Re-exploration of bifrontal craniotomy with gross tumor excision was done. Subsequent histopathological examination confirmed the diagnosis of papillary craniopharyngioma.",
"gender": "Female"
}
] |
PMC11227683
|
[
{
"age": 74,
"case_id": "PMC10759795_01",
"case_text": "A 74-year-old man presented to the emergency department with vague symptoms of generalized fatigue, weakness, poor oral intake, and episodes of hypotension for 3 months prior to admission. His past medical history was significant for stage 4 hepatocellular carcinoma (HCC) with adrenal metastasis status posthepatic mass cryoablation and left adrenalectomy 4 years prior. His hospital course was uncomplicated after the procedure and did not require hormonal replacement, but due to the recurrence of HCC, dual immunotherapy was initiated in October 2021 with bevacizumab (vascular endothelial growth factor inhibitor) and atezolizumab (PD-L1 inhibitor). The patient completed 33 weeks of therapy or 8 cycles, and his symptoms began roughly 21 weeks after its initiation.\nIn the emergency department, the patient was lethargic, confused, excessively weak, and hypotensive with maximum systolic blood pressure (BP) being 72 mm Hg. His BP temporarily responded to intravenous (IV) fluid boluses. Laboratory examination included a complete blood count, a basic metabolic panel, and a liver function test [Table 1]; the results were unremarkable except for mild hypercalcemia and hypomagnesemia, while the sodium and potassium levels were within normal range. Of note, he had multiple episodes of hypoglycemia with the lowest being 65 mg/dL (3.61 mmol/L) (reference range, 70-100 mg/dL) despite tolerating an oral diet and not being treated with glucose-lowering agents.\nDue to our high index of suspicion, we tested for endocrine labs [Table 2]. 8 Am Cortisol level was significantly low along with the adrenocorticotropin (ACTH), and it was noticed the patient had low testosterone, normal aldosterone, and normal renin levels. No anatomical abnormalities, masses, hypoplasia, infarction, or even pituitary enhancement were found on the brain magnetic resonance imaging (MRI) shown in [Fig. 1]. On further review, we discovered that he was previously diagnosed with secondary hypothyroidism in an outside facility, evidenced by low thyroxine and TSH levels, following the fourth cycle of atezolizumab at around 14 weeks from its initiation. Oral levothyroxine was then initiated, but no further testing was conducted at that time.",
"gender": "Male"
}
] |
PMC10759795
|
[
{
"age": 53,
"case_id": "PMC10556648_01",
"case_text": "We report a 53-year-old patient who presented with a decrease in exercise tolerance. His past medical history included atrial fibrillation, intermittent left bundle branch block, arterial hypertension, hypercholesterolemia, and seizure disorder. The patient was treated with acetylsalicylic acid, metoprolol succinate, eplerenone, sacubitril/valsartan, ezetimibe, and oxcarbazepine. The family history was remarkable for idiopathic dilated cardiomyopathy. His brother required a heart transplant at the age of 52.\nThe clinical examination was unremarkable. The patient was hemodynamically stable and euvolemic. There were no murmurs, rubs, or gallops on cardiac auscultation. An electrocardiogram (ECG) revealed sinus rhythm with T-wave inversions in aVL and V4-V6. Holter monitoring ruled out any relevant arrhythmias. On echocardiography, left ventricular ejection fraction was moderately reduced (LVEF 40%) with left ventricular apical and inferior hypokinesis. Relevant results from laboratory testing are illustrated in Figure 1. High-sensitivity Troponin T (hsTnT), NT pro brain natriuretic peptide (NTproBNP), creatine kinase (CK), and CK-MB were not increased. There were no abnormalities suggesting inflammation or infection. C-reactive protein (CRP), procalcitonin (PCT), and differential blood count were within normal ranges.\nCoronary artery disease was ruled out with coronary angiography. An EMB was performed, revealing inflammatory cardiomyopathy with increased lymphocytes, macrophages, and increased ICAM-1 expression. Viral pathogens (adenovirus, human herpes virus 6, erythrovirus Z, Epstein-Barr virus, enterovirus) could not be detected. Initial MCG measurement revealed a pathological magnetic Tbeg-Tmax vector of 0.108 [previously established cutoff value for normal Tbeg-Tmax vector <0.051; Figure 2].\nAfter a negative QuantiFERON-test and chest x-ray to rule out active infection with tuberculosis, immunosuppressive therapy was initiated with prednisolone 60 mg daily for 4 weeks followed by a reduction of 10 mg of the daily dose every 2 weeks.\nOne month after the start of immunosuppressive therapy, LVEF improved to 45%. 12-lead ECG had normalized. An MCG follow-up measurement at that time revealed a relevant decrease of the Tbeg-Tmax vector from 0.108 to 0.036 (reference value <0.051, Figure 2), suggesting therapy response.\nAfter having completed a 3-month course of prednisolone therapy, the patient was found to have an almost normalized left ventricular function (LVEF of 51%). The clinical symptoms of chest pressure and reduced physical activity had subsided. 12-lead ECG showed no pathological findings.\nDuring a routine follow-up examination approximately 2 years after the end of the immunosuppression, the patient's left ventricular function had again decreased. Repeat echocardiographic measurements every 4-6 months until then revealed stable LVEF, while at 2-year follow-up, the LVEF was 35%. Similar to his initial presentation with inflammatory cardiomyopathy, the patient was in sinus rhythm with T-wave inversions in V2-V5 (12-lead ECG). The patient reported occasional chest pressure, dyspnea, and fatigue in recent weeks. The physical examination remained unremarkable.\nThe patient underwent MCG measurement as part of his follow-up examination (Figures 3, 4). MCG supported the recurrence of inflammatory cardiomyopathy by detecting a pathological Tbeg-Tmax vector with a value of 0.069 (reference Tbeg-Tmax <0.051, Figure 4). Fluorodeoxyglucose positron emission tomography-computed tomography (FDG-PET-CT) was used to screen for recurrent inflammation. The FDG-PET-CT revealed an apical, mid-posterior-lateral tracer accumulation, primarily lateral, suggestive of recurrent inflammation. Given these findings, immunosuppressive therapy was initiated with prednisolone 60 mg daily followed by a reduction of the daily dose by 10 mg every 2 weeks. The patient was followed up with clinical examinations and MCG measurements biweekly.\nFour weeks after the start of immunosuppressive therapy, there was no significant improvement in the LVEF 30%. MCG measurement revealed a response to prednisolone therapy, with an improved, but still pathological, Tbeg-Tmax value of 0.056 (Figure 3, April 2021). 12-lead ECG had normalized and remained without any pathological findings during the course of the prednisolone treatment.\nSix weeks after the start of prednisolone treatment, LVEF was 34%. Coronary angiography was performed for further diagnostic workup. No obstructive coronary artery disease was detected. LVEF remained at 34% on echocardiography. After completion of the prednisolone therapy, a maintenance dose of prednisolone 5 mg daily for at least 1 year was recommended. An MCG measurement in August 2021 presented a significant improvement in the Tbeg-Tmax vector, with a value of 0.009 recorded. An FDG-PET-CT scan at 1-year follow-up (after the recurrence of myocarditis) was performed. Compared to March 2021, there was a significant reduction of tracer uptake in previously active areas. Minimal residual tracer accumulation was still present in the posterior left ventricle (Figures 4B1, B3).\nGiven the persistent minimal residual inflammatory activity, the patient was treated with azathioprine 2 mg/kg body weight and prednisolone 5 mg over the course of 6 months. At 6 months follow-up, the patient continued to be clinically stable and reported no cardiac symptoms, e.g., dyspnea or chest pressure. The LVEF remained at 34%.",
"gender": "Male"
}
] |
PMC10556648
|
[
{
"age": 0,
"case_id": "PMC10801703_01",
"case_text": "A 4-month-old full-term previously healthy male infant initially presented with increased work of breathing. Physical exam revealed a right upper quadrant mass, which was confirmed via needle biopsy to be hepatoblastoma. Following their biopsy, they were admitted to the intensive care unit due to hypoxemia secondary to abdominal competition. Chemotherapy was initiated based on AHEP1531 group C arm C5VD, consisting of vincristine, cisplatin, doxorubicin, and 5-fluorouracil followed by a second day of doxorubicin. These agents rendered a precipitous drop in all cell lines with profound neutropenia.\nIn the following days, the patient developed worsening respiratory distress requiring escalation of therapies including high-frequency oscillatory ventilation. Patient showed worsening pulmonary opacities on chest x-ray and was diagnosed with acute respiratory distress syndrome (ARDS) secondary to P. jirovecii pneumonia. With refractory hypoxemia while on high-frequency oscillatory ventilation and development of acute hypotension requiring epinephrine bolus injections, the patient was subsequently cannulated onto VA-ECMO, which was also preferentially chosen over veno-venous ECMO to ensure optimal ECMO flows in a 6-kg infant. Echocardiogram performed at that time showed normal biventricular function with left-to-right shunting across a patent foramen ovale.\nOn day 3 of ECMO, a discrepancy was noted between SpO2 from the oxygen saturation probe positioned on the left foot reading >85% and the arterial blood gas from the left radial artery with a partial pressure of oxygen of 39 mm Hg (Table 1). A secondary pulse oximeter placed on the right hand showed a decreased oxygen saturation of approximately 15 points compared to the left foot (73% vs 88%). This differential persisted even after moving the pulse oximeter to the patient's left ear. Due to concern for deep positioning of the ECMO arterial cannula on chest x-ray (Figure 1), an echocardiogram was performed to assess cannula positioning. The echocardiogram showed the mouth of the arterial cannula positioned caudally and preferential flow to the descending aorta with a jet of native cardiac flow to carotid arteries (Figure 2, Video 1), explaining the reverse differential cyanosis.\nSurgical retraction of the ECMO arterial cannula in the carotid artery by approximately 1 cm (Figure 3, Figure 4, Figure 5, Video 2) resulted in immediate reduction of the saturation differential to <5%.\nThis patient succumbed to multisystem organ failure and was transitioned to comfort care. Extracorporeal membrane oxygenation support was withdrawn 40 days after initiation.",
"gender": "Male"
}
] |
PMC10801703
|
[
{
"age": null,
"case_id": "PMC11361272_01",
"case_text": "Skin and in vitro tests showed HV sensitization in all cases. In addition to repeated bST testing (ImmunoCAP, Thermo Fisher Scientific, Freiburg, Germany), testing for hereditary alpha-hypertryptasemia (HalphaT) was performed by mutation analysis of the TPSAB1 gene and a so-called liquid biopsy to detect a D816V mutation. These tests showed that 2 of our patients had HalphaT; 1 patient fulfilled a minor diagnostic criterion for indolent systemic mastocytosis (SM) without concomitant HalphaT.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC11361272_02",
"case_text": "All patients had a history of severe symptoms after an insect sting (Ring and Messmer grade III), and 1 patient developed repeated anaphylactic reactions during VIT (Ring and Messmer grade II), which resolved only after concomitant omalizumab treatment and after increasing the maintenance dose to 200 microg of bee venom. The patient did not agree to a sting challenge test while tolerating maintenance VIT. Despite ongoing maintenance therapy with 100 microg of wasp venom, patient 2 experienced a grade II anaphylactic reaction following a wasp field sting. After increasing the dose of wasp venom to 200 microg, the patient was clearly protected according to the results of a further sting provocation. Only patient 1 had an uneventful VIT; the establishment of clinical protection could not be demonstrated as this patient did not wish to undergo a sting challenge. However, the patient reported 3 field stings since the start of VIT, all of which were well tolerated with no serious reactions.",
"gender": "Unknown"
}
] |
PMC11361272
|
[
{
"age": 60,
"case_id": "PMC10787137_01",
"case_text": "Early detection of an ST-segment Elevation Myocardial Infarction (STEMI) is crucial, but there are rare cases where STEMI mimics can mislead to its diagnosis. The \"spiked helmet sign\" is an electrocardiogram marker associated with severe non-coronary causes. Littmann and colleagues first described this sign in 2011. It manifested as a dome-shaped ST-segment elevation, where the upward shift occurs before the onset of the QRS complex. Reported cases observed this sign of intrathoracic diseases such as pneumothorax, intrabdominal surgical pathologies such as bowel perforations, subarachnoid hemorrhage, sepsis, and severe metabolic disturbance. A delay in early and prompt management of these underlying causes can result in fatal outcomes. The spiked helmet sign was high-risk mortality in the case series (around 75%). Despite its recognition, the exact underlying pathophysiology remains unclear. We report an original case of a 60-year-old patient admitted for erysipelas. During hospitalization, her electrocardiogram showed a spiked helmet sign.",
"gender": "Female"
},
{
"age": 60,
"case_id": "PMC10787137_02",
"case_text": "Patient information: a 60-year-old female with a previous history of hypertension, who had discontinued her treatment, was initially admitted to a rural hospital's medical department to treat erysipelas in her right leg. The patient's medical history did not include any reports of chest pain.\nClinical findings: on physical examination, the patient had a Glasgow coma scale of 15, a temperature measuring 39.2 C, and her cardiorespiratory assessment revealed normal findings. She had an erysipelas in her right leg without any necrotic lesions.\nTimeline of the current episode: the main steps from the patient s admission to management are summarized in (Figure 1).\nDiagnostic assessment: upon admission, a routine electrocardiogram revealed a diffuse ST-segment elevation and a prolonged QT interval [corrected QT (Bazett) = 516 milliseconds] (Figure 2 and Figure 3). Initially, we diagnosed a circumferential STEMI leading to the administration of a loading dose of antithrombotic therapy. The patient was subsequently transferred to our cardiac catheterization room for immediate coronary angiography and potential primary percutaneous coronary intervention. The invasive exploration showed a normal-sized left main coronary artery with mild calcification and no significant lesion. The left anterior descending coronary artery showed multiple staged intermediate lesions. A significant stenosis involved the ostial and proximal circumflex artery (Figure 4). However, we were unable to visualize the right coronary artery. Following coronary angiography, she presented a predominantly brachio-facial right hemiparesis, with ipsilateral central facial paralysis, associated with Broca's aphasia, and swallowing disorders. Cerebral and supra-aortic trunk computed tomography scans showed normal results, confirming a diagnosis of left superficial sylvian ischemic stroke. The patient was transferred to our cardiovascular intensive care unit and she remained clinically stable. The follow-up electrocardiograms showed the same aspect. A transthoracic echocardiogram performed did not reveal any abnormal findings. Initial blood tests revealed hypokalemia: 2.3 mmol/l, hypocalcemia: 2.02 mmol/l, active inflammatory signs C-reactive protein: 373 mg/L and leukocytosis, white blood cells: 20,900cells/mm3. Additionally, the complete blood count showed hypochromic microcytic anemia: 11.3 g/dl, with mean corpuscular volume: 76 femtoliters (fl) post-coronary angiography. The ultrasensitive troponin level was at 7700ng/l. Creatine-phosphokinase at 4400 IU/l, lactate dehydrogenase at 484 UI/l, and liver transaminases Aspartate Transaminase, and Alanine Transaminase respectively at 239 and 56 IU/l.\nDiagnosis: the patient presented a STEMI mimic, the \"Spiked helmet sign\" concomitant with a right leg erysipelas, sepsis, and severe hypokalemia. This was followed by the occurrence of a left superficial sylvian ischemic stroke.\nTherapeutic interventions: we initiated an anti-ischemic treatment in conjunction with appropriate antibiotic therapy and correction of electrolyte disorders.\nFollow-up and outcome of interventions: within three days of initiating antibiotic therapy the patient became apyrexial and presented a regression of local signs of erysipelas. During the course of treatment, the ST-segment elevation persisted for 48 hours, followed by a gradual regression. After four days, we observed a complete resolution, and there were no lasting sequelae of myocardial necrosis.\nInformed consent: we could not reach the patient after her discharge to obtain her consent. However, we did not describe any information enabling her identification, ensuring the protection of the patient s privacy.",
"gender": "Female"
}
] |
PMC10787137
|
[
{
"age": 65,
"case_id": "PMC10796211_01",
"case_text": "A 65-year-old man presented with right forearm pain and paralysis of his right-hand fingers. Physical examination showed right forearm swelling and drop finger with no sensory deficits in the fingers (Figure 1). Magnetic resonance imaging revealed a forearm mass (Figure 2), whereas chest x-ray and computed tomography identified a right upper lobe mass (Figure 3) and right renal tumour; all masses were histologically identified as non-small cell lung cancer. Consequently, posterior interosseous nerve (PIN) palsy secondary to lung cancer metastasis was diagnosed. The patient tested positive for MET exon 14 skipping mutation. Palliative radiation therapy (30 Gy in 10 fractions) was administered to the forearm tumour, followed by systemic tepotinib therapy. The drop finger showed no improvement despite tumour size reduction.\nPIN palsy is commonly caused non-traumatically by mesenchymal tumours like lipomas, inflammation, or nerve entrapment due to anatomical abnormalities. Periosteal lipoma is the most frequent solid tumour near the proximal radius; however, palsy due to tumour metastasis is rare. Compressive PIN palsies typically warrant surgical intervention. However, we opted for palliative radiation to alleviate pain given the malignant nature and potential tissue invasion risk. While skeletal muscle metastasis from lung cancer is uncommon, tumour-induced nerve compression symptoms can occur.",
"gender": "Male"
}
] |
PMC10796211
|
[
{
"age": 45,
"case_id": "PMC10837847_01",
"case_text": "A 45-year-old man with a past medical history of hypothyroidism and nodular sclerosing classic Hodgkin lymphoma stage IIB presented with back pain. Classic Hodgkin lymphoma was treated with systemic chemotherapy, external radiation and autologous stem cell transplant in 2006. Disease relapsed and patient underwent double umbilical cord allogeneic transplant in 2007, which was complicated by numerous infections and graft versus host disease requiring immunosuppression. Patient completed immunosuppression in 2008 and had been in remission since.\nSixteen years after the double umbilical cord allogeneic transplant, the patient presented to an outside hospital, with several weeks of back pain and was treated for suspected lumbar stenosis with steroids. After persistent pain and onset of headache, lumbar and cranial imaging revealed a small right cerebellopontine angle (CPA) mass as well as subarachnoid hemorrhage, trace intraventricular hemorrhage, and some subarachnoid hemorrhage within the spine. Cerebral and spinal angiography demonstrated no evidence of vascular malformation or abnormality. Magnetic resonance imaging (MRI) was obtained and demonstrated intermediate signal on T2 with a hypointense rim and restricted diffusion. The CPA mass was thought to be consistent with a meningioma. The patient was then discharged and was planned for outpatient follow up with neurosurgery.\nPatient presented again two weeks later with acute onset of severe headache, crushing in quality, affecting the right side of the face, associated with right facial numbness and weakness. Additionally, he reported left sided ptosis. Patient had a possible seizure event with loss of consciousness, no shaking, unclear postictal period, and no tongue laceration or urinary incontinence. The patient received a loading dose of levetiracetam and was started on standing anti-seizure drugs. Repeat MRI scans showed an interval and significant increase of the right CPA lesion ( Figure 1 ). Chest, abdomen and pelvis nonenhanced computed tomography (CT) scans were negative for metastatic disease.\nBiopsy of the CPA lesion was planned with suspicion of lymphoma. The tumor extended from the tentorium to below the hypoglossal nerve. Intraoperative pathological analysis revealed dense and diffuse infiltrate of large atypical cells with irregular nuclei, multiple small nucleoli, and scant cytoplasm. Findings were not consistent with an acoustic neuroma, meningioma, or epidermoid cyst. Lymphoma was not clearly identified with intraoperative analysis. A near total resection of the tumor and decompression of the brainstem was achieved. The tumor was removed due to clear malignancy and difficulty achieving adequate hemostasis with biopsy alone. A small amount of tumor was left on the facial nerve, which responded with 0.05mA of monopolar stimulation following resection.\nAs seen in Figure 2 , the tumor is comprised of large atypical cells with irregular nuclei with vesicular chromatin and scant cytoplasm (A). The tumor cells are positive for B-cell markers CD20 (D)and CD79a (C) and EBER-ISH. The immunohistochemical phenotype of the tumor cells is as follows: CD45+/- (weak, variable), CD20+, CD79a+, CD5-, CD10-, BCL6-, MUM1-, LMO2-, HGAL+, FOXP1-, BCL2+, CD23+, CD43+, MYC+ (80-90%), CyclinD1+/- (40-50%), SOX11-, CD21-, EBER(ish)+. Flow cytometry of the CPA soft tissue showed an aberrant cell population with the following phenotype: CD45dim/-, CD19-, CD20+, cCD79a+, CD22+, CD5-, CD10-, CD23+, CD25+, CD200+, CD30-, CD43+, CD38+, CD33+, HLA-DR+, IgM-/+, IgD-. Final diagnosis was PTLD, monomorphic type, diffuse large B-cell lymphoma (DLBL), non-germinal center B-cell type, EBV+. Cytogenetic results showed no evidence of IGH/BCL2, BCL6, MYC, or CCND1 rearrangement/translocation, however, increased copies of all the genes (IGH, BCL2, BCL6, MYC, and CCND1) in were detected in ~60% cells, indicative of polyploid cells. The patient was sent back to his long-standing oncologist to discuss treatment options for the newly diagnosed primary central nervous system lymphoma. The patient began a high-dose methotrexate-based regimen (the MATRIX regimen).\nFive months post-resection, the patient has completed 4 cycles of MATRIX. Brain MRI performed at two months post-resection demonstrated no new nodular or mass-like enhancement to suggest recurrent or increased tumor. Patient underwent an autologous stem cell transplant 4.5 months after resection, conditioned with thiotepa and high-dose carmustine.",
"gender": "Male"
}
] |
PMC10837847
|
[
{
"age": 5,
"case_id": "PMC10895083_01",
"case_text": "A 5-year-old female presented with neck pain and difficulty in using her right hand. Clinical examination revealed right upper-limb weakness and cervical rotatory disorder. Magnetic resonance imaging (MRI) showed a dumbbell tumor of Eden type II, with heterogeneous enhancement, located within the intradural extramedullary space and paraspinal muscles between the C2 and C5 vertebral bodies. The tumor had compressed the cervical cord (Fig. 1). Furthermore, the tumor had encroached upon the extraforaminal paravertebral space, thus necessitating combining the anterior and posterior approaches to achieve gross total resection.\nSubtotal removal of the spinal tumor was scheduled to decompress the spinal cord. The surgical procedure was conducted with the patient in the prone position, and a skin incision was made from the C1 to C5 spinous processes. Grayish cyst-like tumor tissue was discerned in the right paraspinal muscle, extending into the right C4/5 intervertebral foramen. The tumor was also detected in the right side of the spinal canal. Though dissected from the spinal cord and surrounding tissue, the tumor seemed to invade the right C5 dorsal and anterior roots. Furthermore, it had extended to the contralateral extramedullary space via the ventral aspect of the spinal cord, which was difficult to remove. Therefore, the right C5 dorsal root was amputated, while the right C5 anterior root was preserved with the residual tumor. Subtotal removal of the foraminal and the paravertebral tumor was subsequently accomplished via a posterior approach (Fig. 2A and B). The foraminal tumor was removed extensively from posterior foraminotomy with medial 1/3 of lateral mass resection. The paravertebral tumor connecting to the foraminal lesion was also removed, including the surrounding tumor-invasive muscle without any surgical margin, and was amputated just on the surface of the lateral edge of the lateral mass.\nPathological investigation of the excised tumoral tissues revealed a malignant neoplasm comprising rhabdoid cells, endothelial proliferation, and necrosis (Fig. 2C). Immunohistochemical examination confirmed positive vimentin and pan-CKAE1/AE3 expression. Tumorous cells were partly positive for synaptophysin, smooth-muscle actin, and CD56. SMARCA1 (BRG1) was also positive. However, SMARCB1(INI-1) was negative (Fig. 2D and E). Over 40% of tumor cells demonstrated positivity for Ki-67. These observations corroborated the diagnostic criteria for AT/RT.\nFollowing the surgical intervention, the patient received chemotherapy (MTX iT (intrathecal) + VDC/ICE; methotrexate, vincristine, doxorubicin, cyclophosphamide, ifosfamide, cisplatin, and etoposide) and proton therapy (54 Gy/30 fractions). Although asymptomatic, neoplastic lesions recurred within the intradural extramedullary space near Th10 eight months post-surgery. Since the tumor invaded the dorsal root of the spinal cord, a subtotal resection was performed. Notwithstanding the chemotherapy cycle (MTX iT), the tumor recurred in the corpus callosum and the cerebellopontine angle 10 months following the initial surgery.\nThe tumor was refractory to treatment and had multiple disseminated lesions In the spinal cord. The patient is presently receiving palliative care.",
"gender": "Female"
},
{
"age": 49,
"case_id": "PMC10895083_02",
"case_text": "A 49-year-old man presented with right-sided chest pain. The patient had an unremarkable medical history, and no neurological deficits were identified. MRI revealed an Eden type III dumbbell tumor with heterogeneous enhancement at the T9-10 vertebral body level. The tumor exhibited contact with the pleura from the right side of the T9-10 spinal canal through the intervertebral foramen (Fig. 3).\nThe surgical procedure was conducted with the patient in the prone position. A 7-cm skin incision was performed, and a laminectomy of T8-10 was conducted. A distinct, grayish, elastic, and soft neoplastic lesion was observed in the extradural and intradural space adjacent to the T9-10 intervertebral foramen. The intradural lesion adhered to the T9 dorsal root, slightly swollen with abnormal color, while the T9 anterior root appeared unaltered. Consequently, the T9 root was amputated, and the tumor was entirely excised (Fig. 4A and B).\nHistological examination revealed a malignant neoplasm partially comprising rhabdoid cells with necrotic areas (Fig. 4C). Immunohistochemical examination demonstrated positive pan-CKAE1/AE3 expression, with over 80% of the tumor cells exhibiting Ki-67 positivity. Due to the rhabdoid or epithelioid features of tumoral cells, cancer metastasis was initially suspected, including lung cancer. However, the cytokeratin immunostaining pattern, CK20 (+)/CK7 (-), did not align with the pulmonary origin. Given the spinal cord localization, epithelioid malignant peripheral nerve sheath tumor (MPNST) was also considered. Nevertheless, the S-100 protein expression was not distinctive, even though focal and faint immune reactions were seen for vimentin, synaptophysin, and CD56. Subsequently, SMARCB1 (INI1) and SMARCA4(BRG1) expressions were examined. While SMARCB1 expression was retained, SMARCA4 was undetectable (Fig. 4D and E). These findings substantiated the diagnostic criteria for AT/RT. Despite the patient being asymptomatic, conventional radiation therapy (66 Gy/30 fractions) was initiated 37 days after the surgery.\nUnfortunately, disseminated lesions were identified in the cerebellopontine angle, hypothalamus, lateral ventricle, and cisterna magna 7 months post-surgery. Although chemotherapy (modified ICE: ifosfamide/carboplatin/etoposide therapy) was initiated, it was discontinued due to adverse effects. The patient expired approximately 11 months post-surgery.",
"gender": "Male"
}
] |
PMC10895083
|
[
{
"age": 71,
"case_id": "PMC10902430_01",
"case_text": "Our patient is a 71-year-old gentleman with a past medical history of prediabetes (A1c 6.1% requiring no anti-diabetic medications), hypertension, hyperlipidemia, stage 3 chronic kidney disease (CKD), a remote history of coronary artery disease (CAD), and recurrent urothelial carcinoma metastatic to bilateral lungs. He progressed on first-line platinum-based chemotherapy and quickly progressed through second-line immunotherapy (pembrolizumab). Next generation sequencing showed no actionable mutations while PD-L1 (22c3) immunohistochemistry was positive with a Combined Positive Score (CPS) of 10. Due to a lack of other options, he was subsequently started on EV while continuing immunotherapy. His oncology treatment timeline is shown in Figure 1 . Five days after his third infusion of EV, he presented to the emergency department with generalized weakness, diarrhea (up to 10 episodes per day), shortness of breath on exertion and at rest, fatigue, lethargy, and decreased food intake. He was found to be in hypovolemic shock, was admitted to the ICU, and was started on vasopressors. His cortisol level was 16.6 mcg/dL (reference: 5 - 25 mcg/dL). Thus, adrenal insufficiency was ruled out.\nOther pertinent labs revealed Na 128 (reference: 135 - 145 mEq/L), CO2 14 (reference: 23- 29 mEq/L), Cr 3.44 (baseline 1.5), pH 7.29 (reference: 7.35 - 7.45), uric acid 11.3 (reference: 3.7 - 8.0 mg/dL), beta-hydroxybutyric acid 1.76 (reference: <=0.27 mmol/L), serum ketones and urine ketones positive (reference: normal), LDH 258 (reference: 116 - 250), A1c 6.1%, anion gap 16 (reference: 6 - 12 mEq/L), glucose 331 mg/dL (reference: 70 - 100), C-peptide >30 (reference: 0.9 - 1.8 ng/ml), anti-glutamic acid decarboxylase (anti-GAD) 3 U/ml (reference: 0-4.9 U/ml) and normal LFTs. Comprehensive GI panel was negative. CT abdomen and pelvis was unremarkable. Diarrhea resolved spontaneously without the administration of steroids. His diarrhea was most likely attributed to enfortumab vedotin. Based on the above lab findings, he was started on a continuous insulin infusion drip for diabetes ketoacidosis (DKA). He required a maximum rate of insulin drip 90 units/hour continuously for a total of 9 days until his glucose level reached <150 mg/dL and was then transitioned to regular insulin ( Figure 2 ). On Day 4, continuous renal replacement therapy (CRRT) was initiated. His glucose level was significantly improved after CRRT was initiated and it was continued for a total of 15 days ( Figure 2 ). On Day 15, CRRT was discontinued and he was able to be weaned off of vasopressors. On Day 17, his bicarbonate was normalized and he was downgraded from the ICU.\nOn Day 19, his LFTs began to rise, and he developed an intermittent fever (highest temp >102 F or 38.8 C), jaundice, a diffuse maculopapular rash, hypoxia, and became more lethargic. He was transferred back to the ICU, was re-intubated, and CRRT was re-initiated. He underwent ERCP and no biliary obstruction was identified. A punch biopsy was obtained and pathology demonstrated a superficial dermatitis with increased apoptotic bodies and dyskeratotic cells, which could be compatible with a direct cytotoxic drug effect versus a non-specific drug reaction ( Figure 3 ). Vasculitis was not seen. High dose prednisone and broad spectrum antibiotics were initiated given the skin rash, fever, and transaminitis. He did not have eosinophilia nor lymphocytosis.\nHe was able to be extubated, however, shortly after extubation, he became more hypoxic with concern for pneumonia. Chest imaging showed scattered bilateral ground glass opacities. An infectious workup was negative, including studies for COVID-19, HSV1, HSV2, fungal serology, and bronchoalveolar lavage cytology. He required re-intubation; however, his family did not want to pursue any further aggressive therapy given his complicated hospitalization/impending decline. He passed away peacefully two days later.",
"gender": "Male"
}
] |
PMC10902430
|
[
{
"age": 58,
"case_id": "PMC10836757_01",
"case_text": "A 58-year-old man with no significant past medical or family history presented to the emergency department with a two-day history of an acute-onset severe holocephalic headache. On the day of presentation, the patient had three episodes of vomiting. Upon examination, vital signs were within normal limits, with a blood pressure of 130/70 mmHg. Glasgow Coma Scale (GCS) was 15/15 and neurological examination was unremarkable. A noncontrast head computed tomography (CT) scan was done, which showed a large intraventricular hemorrhage in the right lateral ventricle and suprasellar cistern, dilatation of ventricular and basal systems, and effacement of sulci suggestive of SAH (Figures 1a, 1b).\nSubsequently, CT angiography (CTA) and digital subtraction angiography (DSA) studies were done, both of which showed no evidence of cerebral vascular abnormalities. The patient was admitted to the surgical intensive care unit (SICU) under the care of the neurosurgery team for supportive management. However, early in his admission, the patient's condition deteriorated (E1V2M2), prompting an emergency CT scan that revealed further expansion of the intraventricular hemorrhage involving the right temporal lobe, dilation of the ventricular system, and a midline shift of 10 mm (Figures 1c, 1d). Consequently, the patient underwent a life-saving craniotomy for hematoma evacuation and external ventricular drain insertion (Figure 2).\nDuring the operation, a firm, dark-red lesion was found on the roof of the anterior temporal hematoma. It was carefully dissected off the surrounding gliotic brain tissue and followed medially near the paraclinoid region. The lesion was near-completely resected and sent for histopathological examination, which confirmed the diagnosis of cavernoma (Figure 3).\nPostoperatively, the patient remained in a critical condition with persistently low GCS (E4V1M5). On the sixth postoperative day, his condition further deteriorated (E1M5V1) and an emergency CT scan revealed newly formed right frontal cortical and subcortical hypo-densities, suggestive of acute infarct. Subsequently, CTA and CT perfusion studies were done, which demonstrated severe vasospasm of the right middle (M1, M2 segments) and anterior (A1 segment) cerebral arteries, and a small infarcted core with a larger penumbra, respectively. He was treated with intra-arterial nimodipine angioplasty, which resulted in significant improvement in the caliber of vessels and blood circulation. The patient remained in the SICU thereafter, with persistently poor neurological status and overall condition. As a result, the healthcare team held a meeting with the family members who opted for conservative management without further escalation in treatment and signed a Do Not Attempt Resuscitation (DNAR) form. On the twelfth postoperative day, brain death was confirmed and the patient was extubated.",
"gender": "Male"
}
] |
PMC10836757
|
[
{
"age": 33,
"case_id": "PMC10834094_01",
"case_text": "A young 33-year-old male presenting healthy systemic conditions and good oral health, after orthodontic treatment with aligners (Invisalign, Align Technology, Tempe, Arizona, USA) for aesthetic purposes, was complaining about the presence of a gingival recession in zone 4.1. The tooth did not present any clinical attachment loss at the mesial and distal aspect; moreover, soft tissue phenotype was thick. According to the latest classification, the defect was classified as a RT1. However, the presence of a thick frenulum at the apical portion of the site did not allow to perform directly a coronally advanced flap. Therefore, the patient was subjected to 2 interventions in an interval of 2 months. As mentioned on the timeline (Figure 1) there was a first apically repositioned flap that allowed to remove tension on the site (Figures 2(A)-2(F)). After 8 weeks, a tunneled coronally advanced flap (TCAF) as described by Barootchi and Tavelli was applied combined with a CTG harvested from the palate (Figures 3(A)-3(F)).\nThe TCAF technique for treating isolated RT1-RT2 gingival recessions involved elevating one trapezoidal surgical papilla and executing a single vertical incision. A slightly divergent vertical incision was performed using a minicrescent knife (Surgistar Micro 25 , Surgistar, Vista, California, USA). A minicrescent knife was also utilized to execute the intracellular incision on the treated site and on the tooth adjacent to the papilla that was being preserved. To achieve tension-free flap advancement, one more tooth after the recession defect (not on the site adjacent to the vertical incision) was tunneled. The midfacial aspect of the tooth was elevated with tunneling knives (Sharptome, Surgical Specialties American Dental Systems, Vaterstetten, Germany) and TNK1 and TNK2 (Hu-Friedy, Chicago, USA), while the surgical papilla was incised and elevated in a split-thickness manner with a miniblade (miniblade no. 67, Salvin Dental Specialties, Charlotte, North Carolina, USA).\nThe flap was then released with a 15C blade (Swann-Morton, Sheffield, UK) from the area in which the surgical papilla and the vertical incision were performed and was further completed by introducing curved tunneling knives (Hu-Friedy, Chicago, USA) from the sulcus of the tooth with the intact papilla. The flap was considered tension-free only when it was able to passively reach a level approximately 2 mm coronal to the cementoenamel junction. The anatomical papilla that was incised was then deepithelialized with a miniblade (miniblade no. 67, Salvin Dental Specialties, Charlotte, North Carolina, USA), while the other papilla was gently detached from the interproximal bone and mobilized with a papilla elevator instrument PH26M (Hu-Friedy, Chicago, USA).\nAfter mechanical and chemical root conditioning with 24% ethylenediaminetetraacetic acid (EDTA) for 2 min and rinsing with sterile saline, a connective tissue graft (CTG) obtained from the palate as a free gingival graft and extraorally deepithelialized was inserted underneath the flap and tunneled below the nonincised papilla. The graft was then sutured to the deepithelialized anatomical papilla with a simple interrupted suture (6/0 resorb, Sweden & Martina, Padova, Italy). Further stabilization of the graft was obtained with simple interrupted sutures engaging the periosteum and sling sutures around the tooth (6/0 resorb, Sweden & Martina, Padova, Italy). The flap was then coronally advanced and sutured with sling sutures from the incised papilla to the tunneled papilla and from the incised papilla to the papilla of the adjacent tooth not involved in the flap. The vertical incision was then approximated to the adjacent soft tissue with simple interrupted sutures. Figures 3(A)-3(F)) illustrate the execution of the TCAF.\nThis technique seems to be minimally invasive; indeed, only one papilla is deepithelialized whereas the other is tunneled to maintain stable tissues and support for the graft underneath. The use of a single releasing incision mesial or distal to the tooth allowed to release and easily advance the flap in order to cover the CTG underneath ensuring a blood supply to the graft. The main important aspect of this procedure is the split thickness of the flap, the stabilization of the graft, and finally the stabilization of the flap with slicing sutures on the papillae.\nIntraoral scans were taken before and after root coverage procedure to observe the gain in volume, thickness, and root coverage achieved. A novel 3D software (GOM Inspect, Carl Zeiss S.p.A., Salerno, Italy) was used to superimpose the scans and evaluate all the parameters described above. The 3D analysis consists of a first phase of superimposition and then the delimitation of a region of interest on top of the treated site. This method is extensively used in the dental field and mainly for soft tissue augmentation procedures as reported in several studies.\n Figure 4 shows the superimposed model and the analysis performed with a squared region of interest starting for the cement-enamel junction (CEJ) considering the mesial and distal papilla through the apical portion of the exposed root. At 8 weeks after the TCAF procedure the mean gain obtained was of 1.23 mm with a maximum of 3.75 mm and a minimum of 0.25 mm, moreover, using a cross-section of the scans and highlighting 8 points at 1 mm from each other it was possible to observe how the CTG underneath was crucial for the increase root coverage (Figure 5).\nAfter performing both surgeries, a gel (Biorepair Parodontgel, Coswell Spa, Bologna, Italy) with hyaluronic acid and other active molecules (Biorepair Plus Parodontgel Protezione Gengive: aqua, zinc hydroxyapatite (microRepair ) 20%, glycerin, sorbitol, hydrated silica, silica, cocamidopropyl betaine, cellulose gum, aroma, lactoferrin, sodium myristoyl sarcosinate, sodium methyl cocoyl taurate, Hamamelis virginiana leaf extract, Spirulina platensis extract, Calendula officinalis flower extract, zinc PCA, sodium hyaluronate, tocopheryl acetate, retinyl palmitate, sodium saccharin, phenoxyethanol, benzyl alcohol, sodium benzoate, potassium sorbate, limonene, and CI 77891) was applied directly on the wound 3 times per day for 7 days (Figures 2(D) and 2(E)). The patient was carefully instructed to not pull the lips or scrape the gingiva while administrating the gel for the entire healing period. Painkiller intake and pain were recorded for the entire week. To report pain, a visual analog scale (VAS) from 0 to 10 was used, and every day, the patient had to fill a precompilated chart with the VAS and the number of tablets of painkillers used. As shown in Figure 1, the pain killer intake during the healing period was 3 tablets for the first surgery and 2 tablets after TCAF, while the pain perception showed a mean of 4.33 and 4.25, respectively. During the entire healing period, the application of the healing gel did not show any adverse effect conversely showing reduced edema swelling and patient discomfort. Figure 6 shows the baseline and 8-week follow-up results.",
"gender": "Male"
}
] |
PMC10834094
|
[
{
"age": 33,
"case_id": "PMC11155309_01",
"case_text": "A previously healthy 33-year-old male presented with an 8-month history of a large vegetative right inner thigh wound. The wound began as four small vesicular lesions that progressively developed into numerous pink papules, nodules, and vesiculobullous lesions extending from his right thigh to the dorsal foot, with significant associated serosanguinous and purulent drainage (Figure 1). His social history was remarkable for a history of unprotected sex with two male partners in the preceding 2 years.\nHe was initially seen at a primary care clinic and treated with oral vancomycin and topical Fucidin with no improvement. A month later, he re-presented to a community hospital and was transferred to a tertiary care center for possible necrotizing fasciitis, where he was assessed initially by plastic surgery and empirically treated with broad-spectrum antibiotics. A CT pelvis showed soft tissue thickening and swelling of the right upper leg and flank without abscess formation. Examination by dermatology revealed a large, deep, malodorous ulcerative wound with a pink to violaceous border on the right medial thigh. Granulation tissue was at the ulcer base with overlying yellow and green drainage. In addition, numerous pink to erythematous, indurated plaques and nodules extended from the right thigh to the dorsal foot, with grouped bullae on the medial right ankle (Figure 1). The right leg was considerably edematous in contrast to his largely unaffected left leg. A preliminary clinical diagnosis of pustular pyoderma gangrenosum was made with other considerations on the differential, including atypical infectious etiology and vesiculobullous Sweet syndrome.\nHuman immunodeficiency virus (HIV)-1, Chlamydia, and Syphilis serology subsequently came back positive, and he was treated with doxycycline, penicillin G, and Biktarvy. HIV viral load at the diagnosis was 157,285 copies/mL with an absolute CD4 count of 19 x 106/L and a CD percentage of 14%. Two skin punch biopsies from the anterior thigh revealed poorly circumscribed dermal based vascular proliferation composed of a meshwork of numerous anastomosing vascular channels dissecting the collagen bundles and lined by a single layer of endothelium without cellular stratification (Figure 2(a) and (b)). Only minimal cytologic atypia was noted in the lining endothelium. The vascular channels had varying caliber, and the proliferation infiltrated the underlying subcutis. A spindle cell component, solid growth pattern, or promontory sign were not seen. In the background, extravasated red blood cells and mild lymphoplasmacytic infiltrate were noted. One of the biopsies showed corresponding papillary dermal edema in the clinical vesiculobullous area (Figure 2(c)). HHV-8 stain showed strong and diffuse nuclear positivity in lesional cells (Figure 2(d)). CD31 highlighted the lining cells (Figure 2(e)); however, smooth muscle actin staining was lost around the proliferating channels. Direct immunofluorescence studies and immunohistochemical stains for cytomegalovirus, Ziehl-Neelsen, and Periodic Acid-Schiff were all negative. Histopathologic findings were compatible with the angiosarcoma-like histomorphological variant of KS.\nSubsequent imaging showed widespread lymphadenopathy and lung involvement consistent with disseminated KS. Following discharge from the hospital, the patient underwent palliative radiation at a dose of 20 Gray in five fractions to the wounds on the right thigh and calf. Treatment was well-tolerated, with noted improvement of the right thigh wound (Figure 3).\nThere was worsening involvement of the right foot and ankle, which were subsequently treated with palliative radiation (20 Gray in five fractions at each site). Upon review by the sarcoma multidisciplinary team, he was initiated on chemotherapy with liposomal doxorubicin. His most recent absolute CD4 count was 153 x 106/L, with an undetectable HIV viral load.",
"gender": "Male"
}
] |
PMC11155309
|
[
{
"age": 7,
"case_id": "PMC11090593_01",
"case_text": "We report a case of a female patient with drug-resistant epilepsy that initiated at seven years old with frequent motor (focal to bilateral tonic-clonic seizures) and non-motor (impaired awareness seizures) focal onset seizures (12-16 daily seizures), diagnosed, and managed as temporal epilepsy in a pediatric center with no previous medical, family, psychosocial history, surgeries, or any other risks factors. Psycho-affective (fear and anxiety) and visual auras with no oroalimentary or gestural automatisms were also identified during childhood.\nIn 2006, at the age of 16 years, the patient was admitted to our center for evaluation. Drug-resistant epilepsy was confirmed (valproate 60 mg/kg/day, levetiracetam 3 g/day, lamotrigine 200 mg/day, and clonazepam 4 mg/day). Examination demonstrated no neurological deficits. Neuropsychological evaluation revealed no memory impairment. Magnetic resonance imaging (MRI) showed left hippocampal atrophy and no structural lesion. Initial interictal electroencephalogram presented with bilateral frontotemporal activity. Video electroencephalogram (vEEG) revealed ictal left temporal epileptiform discharges and generalized interictal slow theta-alpha activity. Given that a consistent elementary visual phenomena (phosphenes) aura was identified during childhood, an invasive intracranial recording was offered to rule out a posterior extratemporal origin. The proposed invasive vEEG with subdural grid implantation to identify an ictal onset zone was not consented to by the family and the patient. For that reason, the patient was considered to be treated as a left temporal refractory epilepsy and a left trans-Sylvian selective amygdalohippocampectomy was offered, but the patient and her family stated the preference for a minimally invasive procedure.\nShe underwent a stereotactic frame-based insertion (F.L. Fischer, Freiburg, Germany) of a 3387 wide-spaced four contacts deep electrode (DBS Medtronic, Minneapolis, MN, USA) throughout the major axis of the hippocampus using a posterior longitudinal trajectory in February 2006 [Figure 1]. The Target Point coordinates according to the Talairach-Tournoux coplanar Stereotaxic Atlas of the Human Brain were x = 30 mm, y = 8 mm in front of the PC line, and z = 16 mm below the AC-PC line. As a routine protocol, in our center, electrodes are implanted and maintained switched off for four weeks. No modification in seizure frequency was obtained immediately after surgery. A reduction of seizure frequency noticed during the 4th week after surgical implantation (from 12-16 daily seizures to 3-4 daily seizures) was noticed. Posterior migration of the electrode was identified at Posterior Sylvian Junction (PSJ) by postoperative MRI 1 month after surgery [Figures 2]. Given that a reduction of seizure frequency occurred during the 4th week after surgical implantation, the decision to initiate DBS-PSJ stimulation was taken (2v-120 uS-145 Hz, contacts 0-3 negative, casing positive), and a consistent reduction in seizure frequency (some seizures after surgery, but seizure-free for at least 2 years). In the last follow-up an Engel IC score was obtained. DBS parameters were not modified from 2006 to 2019.\nBoth clinicians and the patient noticed a maintained seizure reduction during a long-term follow-up. In 2019, an invasive recording with SEEG implantation to change and optimize electrode position was proposed to confirm or rule out a temporal or posterior quadrant origin of seizures. However, further invasive evaluation was not consented by the patient and family due to favorable clinical results obtained with the previous PSJ stimulation. From 2019 to 2021, parameters were modified to improve seizure control. Nevertheless, the most favorable outcome (Engel IC) was obtained with original parameters (2v-120 uS-145 Hz, contacts 0-3 negative, casing positive) and maintained to this day [Tables 1 and 2].",
"gender": "Female"
}
] |
PMC11090593
|
[
{
"age": 8,
"case_id": "PMC11165090_01",
"case_text": "An 8-year-old previously healthy girl was admitted to our hospital due to altered mental status persisting for the previous 4 days, along with recurrent and relentless seizures. Upon arrival at the emergency department, despite receiving phenobarbitone and diazepam, her seizures persisted for nearly 2 h. Lumbar puncture revealed normal cerebrospinal fluid (CSF) pressure, along with 45 nucleated cells (90% lymphocytes), a protein level of 24 mg/dL, and a glucose level of 2.3 mmol/L. Initially, viral encephalitis was suspected based on the CSF findings. However, her seizures worsened after treatment initiation, and she became completely unresponsive with increased involuntary movements. Autoimmune encephalitis (AE) was then considered, and on the fifth day of hospitalization, serum testing using an NMDA-positive cell-based assay confirmed the presence of anti-NMDAR antibodies with a titer of 1:100. Unfortunately, CSF testing for anti-NMDAR antibodies was not performed. Subsequent routine electroencephalography (EEG) revealed abnormal slow wave and delta brush patterns, leading to a diagnosis of anti-NMDAR encephalitis. Brain magnetic resonance imaging (MRI) throughout her illness showed no abnormalities, and no evidence of tumor was detected. Herpes simplex virus (HSV) IgM antibodies were negative. Treatment with high-dose intravenous methylprednisolone (IVMP, 15 mg/kg/day for 3-5 days) and intravenous immunoglobulin (IVIG, 2 g/kg over 3-5 days) was initiated. Despite two courses of IVMP and IVIG within the first month, the patient showed no improvement, and serum antibody titer increased to 1:1,000. Meanwhile anti-NMDAR antibody titer in CSF was 1:100, but routine CSF analysis turned normal. Rituximab (375 mg/m2 weekly in 4 weeks) was then administered weekly in addition to prolonged IVIG and IVMP. Within a month, CD19 B-cell levels decreased to less than 0.1%, CSF antibody titer decreased to 1:32, and the frequency of seizures and involuntary movements noticeably decreased, but serum antibody titer increased to 1:1,000 and mental status improvement was negligible. Throughout her hospitalization, she experienced recurrent low fever with increased sputum production. Initially, her respiratory function appeared unaffected, but she later developed paroxysmal hypoxemia, with both frequency and severity gradually increasing. On the 50th day of hospitalization, her respiratory condition worsened, necessitating transfer to the pediatric intensive care unit (PICU) for assisted ventilation. Chest computed tomography scan revealed collapse of the right upper lobe and scattered infiltration. Sputum culture revealed the presence of Pseudomonas aeruginosa, for which imipenem/cilastatin was administered, along with oxygen delivered at a rate of 10 L/min via a simple mask for approximately 10 days. Significantly, stabilization of oxygenation coincided with a decline in seizures and involuntary movements.\nDespite receiving multiple immunotherapies, the patient remained unconscious, with a Glasgow Coma Scale (GCS) score of E4V2M4 (she could open eyes spontaneously and only make incomprehensible sounds with withdrawal from painful stimuli). After 3 months in our hospital, her parents opted to transfer her to the Children's Hospital of Shanghai. There, she underwent additional rounds of immunotherapy including IVMP, IVIG, plasma exchange, and cyclophosphamide. By the sixth month of her illness (late April 2019), her eyes could follow objects and she could say certain words (for example, she said \"dinosaur\" when her mother showed her a dinosaur toy). However, her symptoms fluctuated in the subsequent month, prompting another round of immunotherapy, including IVMP, IVIG, and rituximab, which marked the conclusion of her immunotherapy regimen (all immunotherapies that the patient received are shown in Figure 1 ). Following this (June 2019), her overall condition slowly but steadily improved, and she commenced rehabilitation to restore her motor and cognitive function. Despite entering a phase of clinical recovery, her serum antibody titer continued to fluctuate between 1:1,000 and 1:3,200.\nAfter her discharge in August 2019, she rechecked serum anti-NMDAR antibody titers every half a year, as well as gynecological ultrasound and chest x-ray annually. No sign of tumor was found during her follow-up. In the spring of 2020, even though she could not walk independently or speak fluently with a serum antibody titer of 1:1,000, she had returned to school and could get average scores on exams. By the spring of 2021, she could walk without assistance and engage in long conversation. The serum antibody titer decreased to 1:320 at that time. The titer further declined to 1:32 in November 2022, and remained until the latest test (31 January 2024). Immature behaviors were the main complaints of her parents in later years. However, she became more mature year by year in their eyes. Now, she has attended a key junior high school and exhibited behavior consistent with her pre-illness state, demonstrating good academic performance (the course of clinical status and antibody titers was exhibited in Figure 2 ).",
"gender": "Female"
}
] |
PMC11165090
|
[
{
"age": 9,
"case_id": "PMC10869163_01",
"case_text": "A previously healthy nine-year-old boy presented to the outpatient clinic with a history of erythematous and pruritic urticarial wheals in the last five months. These appeared after swimming in the sea and river for about 30 minutes on six occasions. In five of the six episodes, the lesions disappeared in approximately 10 minutes, after skin rewarming, without any other signs or symptoms. On one occasion, gastrointestinal symptoms were reported after swimming in the river. The patient experienced abdominal pain, vomiting, and dizziness, which prompted immediate medical attention. He had no known reactions following contact with water, after exercise, or in association with any food or drug. Interestingly, the child reported previously developing small erythematous and pruritic papules in the exposed areas of the skin after a walk on a cold, windy day.\nGiven the typical urticarial features of the lesions, a preliminary diagnosis of cold or aquagenic urticaria was made. TempTest (Courage + Khazaka Electronic, Koln, Germany) was used not only to confirm the diagnosis of cold-induced urticaria but also to establish an initial threshold of 18oC. The patient was advised to avoid contact with water or cold air below 18oC. Information on potential symptoms and what to do in the event of another episode or anaphylaxis was provided. The first-line treatment was a daily H1-antihistamine (desloratadine 10 mg) and epinephrine autoinjector (Epipen 0.15 mg (Meridian Medical Technologies, St. Louis, MO)).\nAs of the six-month follow-up, there have been no new episodes of urticaria, and a new TempTest showed a threshold of 11oC. The patient was instructed to double the antihistamine dose, and at a follow-up evaluation at six months, the temperature threshold decreased again to 8oC. Eighteen months after the first evaluation, the patient showed complete wheal suppression at 4oC on the TempTest .",
"gender": "Male"
}
] |
PMC10869163
|
[
{
"age": 57,
"case_id": "PMC11063500_01",
"case_text": "A 57 year-old male was experiencing a sore throat and cough for 1 month prior to admission. On the day before admission, the patient experienced fever, with a recorder temperature of 37.2 C, with chills and visited our emergency department. His medical history was as follows: 14 years prior to admission, the patient underwent a right lower lobe resection for right lower lobe lung cancer and developed chronic unilateral pleural effusion. Ten years prior to admission, the patient received radiation therapy for right middle lobe lung cancer; four years before admission, the patient was administered with induction therapy for AML. Furthermore, in the same year, he was treated with a cord blood transplantation. The conditioning regimen was as follows: fludarabine 30 mg/m2 for 6 days, IV busulfan 3.2 mg/kg for 4 days, melphalan 40 mg/m2 for 2 days, and total body irradiation of 3 Gy. Neutrophil engraftment occurred within 14 days of the transplant. The patient's medical history revealed that he had received PCV13 vaccinations thrice, with the last vaccination administered 3 years prior to admission. This was followed by a PPSV23 vaccination 2 years prior to admission, due to the absence of chronic GVHD. The patient also has a history of suspicion of type IV allergy to piperacillin/tazobactam.\nOn arrival, the vital signs were as follows: conscious level, clear; body temperature, 39.8 C; blood pressure, 124 mmHg/64 mmHg; respiratory rate, 18 breaths/min; and oxygen saturation, 95% (with 5 L/min oxygen). Laboratory tests revealed a white blood cell count of 27,700 cells/muL (stab 23.0%, seg 62.5%, lymphocyte 6%) and a C-reactive protein level of 10.7 mg/dL. Physical examination revealed decreased breath sounds in the right lung field. We conducted a pharyngeal swab, which was analyzed using FilmArray Respiratory 2.1 Panel (BioMerieux, France); the result was positive for human coronavirus OC43 (HCoV-OC43). The urinary Streptococcus pneumoniae (S. pneumoniae) antigen test result was negative. Chest radiography revealed pleural effusion in the right lung field (Fig. 1A). Chest computed tomography (CT) revealed a known pleural effusion and a new consolidation in the right lower lobe (Fig. 2A), leading to a diagnosis of bacterial pneumonia and hospital admission. We suspected bacterial pneumonia with HCoV-OC43 infection. He was administered meropenem and azithromycin. Three hours after admission, due to worsening respiratory status with oxygen saturation dropping to 70% on 10 L/min oxygen, another the chest radiograph was obtained and revealed further consolidation of the right lung field (Fig. 1 B). Subsequently, the patient was transferred to the intensive care unit (ICU) and intubated. Penicillin-sensitive S. pneumoniae was detected in both the sputum and blood cultures, with colonies shown in Fig. 3 and antimicrobial susceptibility detailed in Table 1. He was diagnosed with IPD. Due to the suspicion of a type IV allergy to piperacillin/tazobactam and possible cross-reactivity, we could not use penicillin G. Therefore, he was treated with the antibiotic ceftriaxone. Subsequently, the patient's respiratory status improved and was extubated on day 7 of hospitalization; he was then transferred from the ICU. However, due to persistent fever, a chest CT was performed on day 8 of hospitalization, which revealed an encapsulated pleural effusion in the right lung field (Fig. 2B). Thoracentesis was performed and the fluid appeared clear. The cell count of the pleural effusion was 5677/muL with neutrophils comprising 99.0% of these cells. The total protein and albumin levels were 3.0 g/dL and 1.6 g/dL, respectively. The lactate dehydrogenase (LDH) level was notably high at 2276 U/L. The glucose level was less than 2 mg/dL and the pH was 7.0. In the serum, the total protein and albumin levels were 5.2 g/dL and 1.8 g/dL, respectively. The serum LDH level was 136 U/L. Although the pleural fluid culture was negative, we suspected the presence of empyema due to low glucose levels and elevated blood cell count with neutrophil predominance.\nOn day 11 of hospitalization, chest tube drainage was performed, which resulted in a decrease in the pleural effusion (Fig. 4), and the patient's condition subsequently subsided and stabilized. In both the sputum and blood culture, S. pneumoniae serotype 3 was identified by the Tokyo Metropolitan Institute of Public Health.",
"gender": "Male"
}
] |
PMC11063500
|
[
{
"age": 84,
"case_id": "PMC10581004_01",
"case_text": "An 84-year-old woman visited the dermatologic department with a 3-month history of multiple verrucous papules and nodules on the perianal area, which were causing discomfort and pain. She had a previous medical history of hypertension and spinal stenosis. The patient was bedridden due to her medical condition. Despite frequent defecation and urination, her caregiver had changed her diapers only twice a day, using wet wipes and povidone. A month ago, the patient was prescribed topical antibiotics at a local clinic with limited improvement and was referred to our clinic under the impression of viral infection. The patient's laboratory test results were nonspecific, and polymerase chain reaction did not detect human papillomavirus. Treponema pallidum hemagglutination (TPHA) tests were negative/non-reactive. No bacterial or fungal growth was observed on culture. On physical examination, multiple, 3-12 mm sized flat-topped moist verrucous papules and nodules with some lesions coalescing to form plaques were noticed at the perianal area (Figure 1). Punch biopsy specimen revealed prominent hyperkeratosis, parakeratosis, irregular epidermal hyperplasia (Figure 2A) and mild lymphocytic infiltration in the dermis (Figure 2B). Periodic Acid-Schiff with diastase (PAS-D) staining did not reveal any pathogenic organism. The lesions were diagnosed as perianal pseudoverrucous papules and nodules based on the clinical and histopathologic features. The patient was treated with daily saline wet dressings and 0.25% prednicarbate lotion. The diapers were changed on more regular and frequent intervals. After 6 weeks of treatment, the lesions improved significantly (Figure 3).",
"gender": "Female"
}
] |
PMC10581004
|
[
{
"age": 58,
"case_id": "PMC11041960_01",
"case_text": "A 58-year-old Chinese man was admitted to our hospital due to a one month history of right upper abdominal pain, The pain significantly disrupted his sleep and was accompanied by symptoms of loss of appetite and fatigue. The patient's previous medical examination at a local hospital revealed elevated tumor markers, specifically an alpha-fetoprotein (AFP) level of 172.9ng/mL, a Carcinoembryonic antigen (CEA) level of 9.16 ng/mL, a Carbohydrate antigen 125 (CA 125) level of 42.64 U/mL, and a Carbohydrate antigen 199 (CA 199) level of 53.08 U/mL. Hepatitis B virus DNA quantitative was 5.35E+05IU/mL. Hepatobiliary ultrasound findings indicated the presence of liver cirrhosis and fibrosis, with visible liver masses. The patient's past medical history included hepatitis B-associated liver cirrhosis for 10 years, and antiviral therapy was not regularly applied. His personal history included smoking for more than 20 years, approximately 6-7 cigarettes per day, without a history of alcoholism. In terms of family history, his mother had Esophagogastric Junction Cancer, his sister had breast cancer, his brother had liver cirrhosis. During the physical examination, liver palm and spider nevus were observed. There was tenderness in the right upper abdomen, and the liver could be palpated 1cm below the costal area. After being admitted to our hospital, chest computed tomography (CT) and abdominal magnetic resonance imaging (MRI) was performed to assess the tumor, revealing the presence of mass in the left lung and multiple masses in the liver (Figure 1), brain MRI and bone scintigraphy showed no brain or bone metastases. Biopsy pathology of the liver masses in segment VII-VIII confirmed the presence of a malignant tumor (Figure 2), Immunohistochemical staining results were as follows: CKpan (weak +), Syn (+), CgA (+), CD56 (+), CD34 (-), CK19 (-), Arginase-1 (-), HepPar-1 (-), AFP (-), Vimentin (partly weak +), CK7 (-), CK20 (-), Villin (-), TTF-1 (-), CDX-2 (-), Ki-67 (active zone about 70%+), MLH1 (+), MSH2 (+), MSH6 (+), PMS2 (+), PD-L1 (22C3)(CPS 1), Subsequently, the patient underwent one cycle of chemotherapy with etoposide and cisplatin. However, two weeks after the chemotherapy, the patient developed febrile neutropenia. Following treatment with recombinant human granulocyte colony-stimulating factor (GSF), the patient's white blood cell count returned to the normal range. \nIn light of the patient's prior history of hepatitis B-associated liver cirrhosis, the possibility of primary liver cancer cannot be disregarded. Consequently, a puncture biopsy of the mass in liver segment V was conducted, yielding findings consistent with hepatocellular carcinoma (Figure 3), Immunohistochemistry results were as follows: GS(+), GPC3 (focal +), HSP70 (focal +), CD34 (+), CK19 (-), Arginase-1 (+), HepPar-1 (+), AFP (-), Ki-67 (active zone about 15%+). The patient received a combination treatment of sorafenib (0.4g Bid) with Transcatheter arterial chemoembolization (TACE) and hepatic artery infusion chemotherapy (HIAC), One month after treatment, a partial response (PR) was achieved. TACE was administered monthly, totaling two treatments, during the treatment, the patient experienced a first-degree gastrointestinal reaction and liver function impairment. Approximately three months later, abdominal CT scans indicated stability in the liver masses, although a head MRI revealed the presence of a new brain metastasis in the left parietal lobes without accompanying symptoms. The patient received one cycle of Zimberelimab (240mg) as treatment, which was unfortunately discontinued due to the onset of the COVID-19 pandemic. \nThree months after the treatment, imaging studies revealed stable tumors in chest, head and liver was stable (Figures 4-6), but an enlargement of retroperitoneal lymph nodes and enhanced margins of a liver mass in the V segment. But an enlargement of retroperitoneal lymph nodes and enhanced margins of a liver mass in the V segment. To control hepatocellular carcinoma, a third TACE procedure was performed, along with the addition of sorafenib and six cycles of tirelizumab. Efficacy evaluation was stable, and the brain tumor exhibited a reduction in size without any accompanying symptoms, no sever adverse was discovered by the time of writing, and the patient was in a good physical condition.",
"gender": "Male"
}
] |
PMC11041960
|
[
{
"age": 23,
"case_id": "PMC11259355_01",
"case_text": "The first case is a 23-year-old female who presented at 25 weeks of gestation with polyhydramnios with MCA-PSV of 50.3. On immunohematology workup, the maternal antibody screen was negative. Mother was diagnosed with hydrops fetalis secondary to parvovirus and pure red cell aplasia. The patient was planned for IUT. Fetal weight at that time of presentation was 800 g and preprocedure hematocrit was 8.7%. On USG, the fetus has mild ascites, generalized skin edema, and bilateral pleural effusion. Postprocedure hematocrit was 26.5%. The second procedure could not be conducted as the fetus did not survive.",
"gender": "Female"
},
{
"age": 29,
"case_id": "PMC11259355_02",
"case_text": "The second case is a 29-year-old female G3P2 L1A0D1, first time presented at 26 weeks. Gestational age with a weight of the fetus was 1486 g with USG feature of pericardial effusion, gross ascites, and placentomegaly. Preprocedure hematocrit was 8.7%. On immunohematology workup, the antibody identified was anti-D with a titer of 512. MCA-PSV was 74.9 before the first IUT. After the first procedure hematocrit was 26.5%. The second procedure was done at 27 weeks of gestational age. Before starting the second procedure hematocrit was 8.7% and postprocedure hematocrit was 16.10%. The third procedure was done at 27 + 3 weeks gestational age and preprocedure hematocrit was 13.9%, but we were unable to get postprocedure hematocrit due to the replacement of the needle. The fourth procedure was planned at 28 weeks of gestation with preprocedure hematocrit was 5.10%. Before starting the fourth IUT session, MCA-PSV value was 77 at 28 weeks of gestation. The fetus did not survive.",
"gender": "Female"
},
{
"age": 28,
"case_id": "PMC11259355_03",
"case_text": "The third case is a 28-year-old female G3P2001, first time presented at 26 weeks of gestation with USG suggestive of pericardial effusion and placentomegaly, with MCA-PSV value of 67.6. On immunohematology workup, the antibody identified was anti-D with titer 512. The patient underwent three procedures of IUT. The first procedure was undergone intravascular route with preprocedure hematocrit was 0.6%. This may be due to sample error as contamination with liquor. Postprocedure hematocrit was 21.4%. The second procedure was done through the intraperitoneal route with an interval of 4 days. Postprocedure hematocrit could not be able to assess due to the intraperitoneal route. After that procedure, the fetus underwent bradycardia and did not survive.",
"gender": "Female"
},
{
"age": 23,
"case_id": "PMC11259355_04",
"case_text": "The fourth case is a 23-year-old female with G3P1100, first time presented at 22 + 4 weeks of gestation with fetal weight of 493 g. USG finding of fetus was suggestive of oligohydraminos, cardiomegaly with pericardial effusion and gross ascites. MCA-PSV was 60.7. On immunohematology workup, the antibody identified was anti-D with titer 256. The patient underwent one IUT procedure. Preprocedure hematocrit was 1.5%. We could not be able to assess postprocedure hematocrit due to slippage of the needle. The second procedure was planned. However, the fetus underwent bradycardia before the next procedure.",
"gender": "Female"
},
{
"age": 27,
"case_id": "PMC11259355_05",
"case_text": "The fifth case is a 27-year-old female with G5P2201, first time presented at 30 + 5 weeks of gestation with a fetal weight of 974 g. MCA-PSV was 69.7. USG finding was suggestive of of moderate to severe ascites with anasarca with placentomegaly and cardiomegaly. On immunohematology workup, the antibody identified was anti-D with a titer of 256. The patient underwent the first procedure of IUT with preprocedure hematocrit was 3.5%. Postprocedure hematocrit was 10.9%. The second procedure of IUT was planned 3 days after the first procedure with preprocedure hematocrit was 3.5% and postprocedure hematocrit was 9.8%. The third procedure was planned but the fetus underwent bradycardia before the procedure and did not survive.\nVolume was calculated for each session as per gestational weight and preprocedure hematocrit.\nApproximately, 40-70 ml blood volume is required during these procedures including tube wastage.\nBrief summary of all cases is summarized in Table 1.",
"gender": "Female"
}
] |
PMC11259355
|
[
{
"age": 82,
"case_id": "PMC10624547_01",
"case_text": "Mr. X, a New Zealand European 82-year-old male with a background of a previous transient ischaemic attack, hypertension, and osteoarthritis, presented with two months of abdominal bloating, constipation, and generalised abdominal pain. There was no prior history of cholecystitis or known cholelithiasis. He describes intermittent bouts of large-volume vomiting and progressive abdominal distension. He presented two months prior with a similar episode which was deemed to be secondary to an incarcerated umbilical hernia for which he underwent primary repair under general anaesthesia (GA). Of note, the umbilical hernia was found to contain an incarcerated omentum only with no bowel involvement, and the compromised omentum was resected.\nOn examination, the patient was noted to have a markedly distended abdomen which was generally tender but not peritonitic. His white cell count and c-reactive protein were both slightly raised above normal at 16 and 9, respectively, and his liver functions were normal. Other investigations included a chest X-ray and a CT abdomen-pelvis (Figure 1). A 2 cm gallstone was identified in the distal ileum, causing obstruction and a choledochoduodenal fistula with pneumobilia. There was no evidence of perforation.\nMr. X proceeded for laparotomy and enterotomy after the insertion of a nasogastric tube and intravenous line. A midline laparotomy was performed. A large calibre small bowel was identified. A large gallstone was initially encountered in the jejunum on inspection; however, the small bowel appeared to be very dilated distal to this as well. On further inspection, a second stone was also identified (as reported on the imaging) in the distal ileum. The small bowel surrounding these stones was chronically inflamed and thick but appeared viable without any evidence of perforation. Although the distal ileal stone was initially milked proximally with a view of delivering them both out through a single enterotomy, a stricture distal to the jejunal gallstone prevented any further movement. Therefore, two enterotomies were performed approximately 5 cm apart to deliver the two stones which were both approximately 2.5 cm in size. Approximately 2.5 L of turbid fluid was suctioned out of the small bowel following these procedures. Both enterotomies were closed with 3-0 maxon interrupted stitches. The decision was made not to resect the stenosed area of the small bowel as it did appear to be significant. The gallbladder and cholecystoduodenal fistula were not interfered, with during the procedure with the focus being on clearing his mechanical bowel obstruction.\nPostoperatively, the patient's diet slowly progressed from sips to free oral fluids as we presumed he would have a prolonged ileus given the chronicity and double stone presentation. However, he was passing flatus by day 3 and progressed well to a normal diet by day 4. He was discharged home on day 7 postadmission and is currently at home awaiting outpatient follow-up to discuss a cholecystectomy; however, given his age, it is unlikely we will go forward with this.",
"gender": "Male"
}
] |
PMC10624547
|
[
{
"age": 76,
"case_id": "PMC11075753_01",
"case_text": "A 76-year-old female patient with AQP-4 negative Neuromyelitis Optica Spectrum Disorder (NMOSD) first exhibited a spinal syndrome with predominantly right-sided tetraparesis in 2016. Immunomodulatory therapy with Rituximab was administered from June 2018 to December 2018. However, due to a lack of clinical improvement, the therapy was discontinued. To treat the persistent painful spastic symptoms, the patient underwent intrathecal triamcinolone therapy every 6 months starting in June 2019, with a cumulative dose of 80 mg over 2 days. Both the patient and treating physicians confirmed improvement in spasticity and mobility upon triamcinolone therapy.\nThe patient tolerated the intrathecal triamcinolone injections well, with no clinical side effects or cerebrospinal fluid (CSF) abnormalities. However, the day after the fifth injection on 21 April 2022, CSF cell counts increased to 1,600/mul, consisting of 90% granulocytes. Subsequent lumbar punctures performed after the first administration on the following day and also at the beginning of the new cycle after 6 months continued to show consistently elevated cell counts (Figure 1). Spinal magnetic resonance imaging (MRI) on 15 July 2022, showed pre-existing myelon lesions at levels C4/5 to C6, but no signs of adhesions or arachnoiditis as a potential cause of the CSF findings. Also, clinical signs of meningitis were absent. Based on the beneficial clinical effects and the assumption of reactive pleocytosis due to steroid injection, intrathecal triamcinolone therapy was continued. However, after the 17th intrathecal administration of triamcinolone, a lumbar puncture on 19 July 2023, revealed a turbid CSF with excessively increased leukocytes (5,200/muL, 98% granulocytes), elevated albumin quotient (11.12) without intrathecal immunoglobulin synthesis (IgG/Q 6.8 [oligoclonal bands type IV]; IgA/Q 4.94, IgM/Q 3.63), a lactate concentration of 4.38 mmoL/L and a glucose concentration of 77 mg/dL. CSF granulocytes exhibited a hypersegmented nuclear pattern in cytology (Figure 2), indicative of an activation response. Despite the absence of elevated systemic infection parameters, the substantial increase in CSF leucocytes raised concern about a potential bacterial infection, and empiric treatment with ceftriaxone was initiated. Yet, negative infectious workup (broad-range 16S rRNA PCR analysis of CSF, CSF cultivation for bacteria and fungi, microscopic examination (Gram staining) and inhibition testing) led to assume triamcinolone-induced aseptic neutrophilic pleocytosis. To clarify the underlying pathomechanisms, comparative analyses of the cerebrospinal fluid (CSF) cytokine profile in this patient (#1), as well as three additional patients (#2, #3, #4) suffering from secondary progressive multiple sclerosis (MS), who had received an equivalent dose of intrathecal triamcinolone treatment for spasticity treatment, were performed. CSF samples were collected from patients #3 and #4 both before and 24 h after the administration of triamcinolone. Additionally, CSF samples were collected from patient #1 after a 2-month follow-up and from patient #2 after a 3-month follow-up. No changes in the CSF cell counts were observed in control patients. In-depth cytokine investigation detected a distinct pattern between index (#1) and control patients (##2, 3, 4). Specifically, we noted an increase in the levels of tumor necrosis factor-alpha (TNF-alpha), interleukin-6 (IL-6), interleukin-8 (IL-8), and interleukin-10 (IL-10) in the CSF of patient #1 after intrathecal triamcinolone administration, while no relevant changes were observed in the control patients. Conversely, no alterations were detected in the levels of interferon-gamma (INF-gamma) or eotaxin-3 (Figure 3).\nIn view of this inflammatory CSF syndrome, we discussed to pause further intrathecal administration of triamcinolone in order to assess the clinical course following the CSF pathology described above. Indeed, the patient did not exhibit additional clinical symptoms during the inpatient stay, especially no meningism or headache, and was discharged in unaltered general condition. After 8 weeks, we performed a follow-up diagnostic lumbar puncture, which showed normalization of all parameters pathological in the previous analyses (Figures 2, 3). Yet, in the light of the unclarity of the underlying causes for these CSF alterations as well as potential long-term side-effects, we discussed additional options for the treatment of the patient's spasticity and finally decided together with the patient to discontinue intrathecal triamcinolone therapy.\nTogether, this case highlights a potential side effect of yet unclear short and long-term significance in the treatment of spasticity using intrathecal steroids. Future studies will need to address these and other long-term effects of intrathecal steroids on the one hand, while on the other hand additional established treatment strategies for spasticity gain increasing importance in the light of their limited side effects and long-term tolerability.",
"gender": "Female"
}
] |
PMC11075753
|
[
{
"age": 4,
"case_id": "PMC10808648_01",
"case_text": "A 4-year-old intact female Labrador retriever dog, weighing 21 kg, presented with anorexia and lethargy for 20 days. Physical examination revealed severe abdominal distension, fever (40.7 C), increased heart rate (132 bpm) and breathing difficulty accompanied by panting.\nBlood examination revealed leukocytosis (35.1 x 109 cells/L; reference range: 6-17 x 109 cells/L) with severe neutrophilia (30.3 x 109 cells/L; reference range: 3.9-8 x 109 cells/L) and monocytosis (2.3 x 109 cells/L; reference range: 0.2-1.1 x 109 cells/L). Plasma biochemical analysis revealed increased levels of alkaline phosphatase (825 U/L; reference range: 29-155 U/L), amylase (1768 U/L; reference range: 388-1,007 U/L), lactate (4.9 mg/dL; reference range: 0.5-2.5 mg/dL), C-reactive protein (59.9 mg/L: reference range: 0-20 mg/L), and D-dimer (2.0 mg/dL; reference range: 0-0.3 mg/dL). The serum glucose level was within the reference range (77 mg/dL; reference range: 67-147 mg/dL).\nAbdominal radiography (Titan 2000; Comed Medical Systems Co., Ltd., Seoul, Korea; 82 kVp, 10.2 mAs, 320 mA) revealed a large volume of free gas in the peritoneal space (Figures 1A,C) with marked abdominal distension and cranial displacement of the diaphragm. Peritoneal gas was observed outlining the outer wall of the small bowel. In addition, a radiopaque stripe of approximately 7 mm in thickness and 25 cm in length was identified on the mid-abdomen, suggestive of a ligament or peritoneal reflection. The overall abdominal serosal detail was reduced. The radiographic findings indicated that the panting and breathing distress were caused by massive pneumoperitoneum. Emergent needle decompression and peritoneal effusion sampling were performed; however, despite improvement in respiration and reduction in abdominal distension, a large amount of free gas was persistent (Figures 1B,D). In the peritoneal fluid analysis, a significant elevation in white blood cells (> 17 x 109 cells/L; reference range: < 7 x 109 cells/L) and total protein (3.6 g/dL; reference range: < 2.0 g/dL) was observed and the glucose concentration was 28 mg/dL.\nComputed tomography (CT) was performed using a 164-detector row CT scanner (Brivo CT 385; GE Medical Systems, Milwaukee, WI, United States; 120 kVp, 110 mAs, 1.25-mm slice thickness) with the dog under general anesthesia and positioned in ventral recumbency. A power injector (CT Power Injector; GE Medical Systems, Milwaukee, WI, United States) was used to administer 600 mg iodine/kg iohexol (Omnihexol 300; Korea United Pharmaceutical, Seoul, Korea). In post-contrast images, we found a gastric mass with homogeneous enhancement, measuring approximately 3.7 x 5.0 x 5.5 cm and extending from the cardia to the fundus of the stomach (Figure 2). Small gas bubbles were present between the omentum and gastric mass (Figures 2A,B). A substantial amount of free gas was present in the peritoneal cavity (Figure 2), causing compression and centralization of the abdominal organs (Figures 3A-C). Diffuse peritoneal effusion and fat stranding were observed throughout the peritoneal cavity, particularly around the stomach (Figure 3D). Furthermore, a low-attenuating cleft that could be indicative of perforation site was observed near the gastric mass. These imaging findings led to a tentative diagnosis of gastric perforation caused by gastric neoplasia, resulting in TPP and peritonitis.\nThe dog underwent exploratory laparotomy for identifying and correcting the perforation site and performing peritoneal lavage. A gastric perforation site (Figure 2D) of approximately 2.2 cm was identified near the gastric mass. Severe generalized peritonitis with fibrin deposition along the peritoneum and slightly opaque yellow ascites were observed. The mass was resected with a surgical margin of 1 ~ 2 cm, and after peritoneal lavage and drainage, the abdomen was closed. Biopsy was not performed owing to a lack of the owner's consent. However, imprinting cytology indicated gastric carcinoma. The patient was treated with fluid therapy, analgesic, antithrombotic agents, and antibacterial therapy. Despite aggressive treatment, the patient's condition worsened, and euthanasia was performed the day after surgery at the owner's request.",
"gender": "Female"
}
] |
PMC10808648
|
[
{
"age": 18,
"case_id": "PMC10505383_01",
"case_text": "The identification of liver abscess and choledocholithiasis cases relied on the International Classification of Diseases, 9th Revision Clinical Modification (ICD-9-CM) for data prior to 2016 and ICD-10-CM for subsequent data shown. A cohort of patients with choledocholithiasis who underwent endoscopic retrograde cholangiopancreatography (ERCP) examination with either endoscopic sphincterotomy (ES) or non-ES procedure (endoscopic papillary balloon dilation) was selected from January 1, 2001, to December 31, 2018. Exclusion criteria included individuals under 18 years old, previous history of ERCP procedure, pyogenic liver abscess, amebic liver abscess, alcoholism, history of hepatopancreaticobiliary system surgery, and malignancies such as hepatocellular carcinoma (HCC), gallbladder and extrahepatic bile duct malignancies, small intestine (including duodenum) malignancies, and pancreatic malignancies. After enrollment, the data underwent additional validation analysis to ensure the accuracy of the initial diagnosis of liver abscess. Furthermore, comprehensive details including age, comorbidities (diabetes mellitus (DM), pancreas, liver disease and other malignancy), medication history, laboratory data (white blood counts, platelet, creatinine, hepatobiliary functions and CRP level), characteristics of the liver abscess, treatment modalities, presence of extra-hepatic complications, mortality rates, and culture results were obtained to facilitate in-depth analysis. A total of 220 individuals were confirmed to have liver abscess. Of these, 195 patients were classified into the ES group, while an additional 25 patients were assigned to the non-ES group for subsequent analysis.\nContinuous data were presented as means +- standard deviation (SD) and categorical data are presented as frequencies and percentages. Pearson's chi-square or Fisher's exact 2-tailed tests were used for the analysis of categorical data, while continuous variables were analyzed using the t-test, where appropriate. Factors associated with in-hospital mortality were determined using the Cox proportional hazards model. Two-tailed p-values < 0.05 were considered statistically significant. All analyses were performed using the Statistical Package for Social Sciences (IBM SPSS , version 22.0 for Windows).",
"gender": "Unknown"
}
] |
PMC10505383
|
[
{
"age": 65,
"case_id": "PMC10903879_01",
"case_text": "Absence of consistent breast cancer awareness and early detection methods in the region, suggest that women themselves should be proactive to seek care from the primary health facilities and then follow the referral system, if so recommended, to the better equipped Zonal and National Hospitals. The earlier one starts the journey the better. However, geographic distance to services is a significant barrier to timely care, especially for rural populations from which more than 80% of women with breast cancer are lately diagnosed. To address this gap, intermittent efforts have been made to facilitate availability of early prevent methods through outreach services conducted by the Tanzania's Ministry of Health, and Clinical Breast Examination (CBE) campaigns conducted by Non-Governmental Organizations (NGOs) such as Tanzania's Medical Women Association (MEWATA). Unfortunately, most Tanzania women suffering from breast cancer continue to present with late diagnoses, suggesting existence of multiple barriers to early diagnosis and treatment. Therefore, identifying the barriers and facilitators to early detection of breast cancer in LMICs that cut across individual, interpersonal, organizational, community and health system barriers is needed for effective design and implementation of early detection methods. However, few studies in the region have taken a multilevel approach to investigate barriers to early detection of breast cancer. Thus, the goal of this qualitative descriptive study was to elucidate the possible multi-level barriers:herein defined as range of constraint/determinants to early access to breast cancer diagnostic services among women occurring at various level of influence (e.g. the individual, family and social supports, local community environment, health system, and national environments. The purpose is to inform the development of a multilevel intervention in breast cancer awareness and early detection in rural Tanzania, where the risk for late detection of breast cancer is higher compared to their urban counterparts. The current study addressed the following specific research question guided by the socio-ecological model: What are the reported challenges/barriers to breast cancer awareness and early screening among midlife women aged 40-65 years old in rural Tanzania? We focused on midlife women as one of the most common affected age group in Tanzania.",
"gender": "Unknown"
}
] |
PMC10903879
|
[
{
"age": 45,
"case_id": "PMC10656797_01",
"case_text": "A 45-year-old premenopausal female presented with an impacted fracture of the base of the right fifth metacarpal bone in August 2012 [Figure 1(a)]. She has been complaining of generalized bony aches for more than 7 years. Her medical history was only remarkable for a diagnosis of low bone mineral density (BMD) for age based on Dual-energy X-ray absorptiometry (DXA) scan performed in 2005 with a Z-score of -2 in the femoral neck. No documented etiology for the low BMD was reported. She received treatment in the form of weekly alendronate for the past 7 years. DXA scan showed a mild improvement on follow-up in 2009 and 2012 to a Z-score of -1.7 and -1.6, respectively.\nCauses of low BMD were explored in October 2012. She was euthyroid, TSH 0.98 microIU/L (N: 0.27-4.2), free T4 1.43 ng/dL (N: 0.9-1.9). Low normal serum calcium 8.7 mg/dL (N: 8.6-10.2) and low phosphorus 2.3 mg/dL (N: 2.5-5). Low vitamin D level at 6.4 ng/mL (N: 30-100) and high serum parathyroid hormone PTH at 208 ng/L (N: 10-65 ng/L). At this point, the first differential diagnosis was normo-calcemic HPTH, however before making this diagnosis, causes of secondary HPTH have to be excluded with vitamin D deficiency on top of the list. The second differential diagnosis was hypovitaminosis D causing secondary HPTH, the patient had vitamin D deficiency according to the endocrine society guidelines, and the long-standing complaint of bony aches was consistent with osteomalacia.\nThe patient was prescribed vitamin D3 200,000 IU ampoules by intramuscular injections, every 2 weeks for 2 months and the tests were reevaluated in December 2012. Vitamin D showed some improvement and rose to 18 ng/mL and calcium rose up to 11.8 mg/dL. The patient repeated the same treatment protocol for two more months and tests were reevaluated once more in March 2013. Vitamin D normalized to 51.4 ng/mL, calcium remained elevated at 11.5 mg/dL, phosphorus low normal at 2.5 mg/dL, and PTH remained high at 161 ng/L. The decision was to stop vitamin D injections and reevaluate in 1 month.\nIn April 2013, calcium showed persistent elevation at 12.7 mg/dL, low normal phosphorus at 3.2 mg/dL, and PTH persistently elevated at 231 ng/L. At this point, the differential diagnosis was primary HPTH versus FHH. A final laboratory assessment was ordered in May 2013 to reach a definite diagnosis. Normal vitamin D at 65.3 ng/mL, high ionized calcium at 6.4 mg/dL (N: 4.6-5.2), low phosphorus at 2.1 mg/dL, high 24 h urinary calcium excretion at 577 mg/24 h (N: 100-400), and high PTH at 176 ng/L, a combination consistent with primary HPTH that was initially masked by hypovitaminosis D.\nA Technetium-99 m (SESTAMIBI) scan revealed a left upper parathyroid adenoma, that was also confirmed in an ultrasound examination of the neck measuring 10 mm x 6 mm x 3 mm [Figure 1(b) and (c)]. Creatinine was normal at 0.61 mg/dL (N: 0.5-0.9), but an abdominal CT scan revealed left kidney medullary nephrocalcinosis and nephrolithiasis as multiple calyceal stone averaging 6 mm in maximum dimension [Figure 1(d)]. Based on the following clinical, laboratory, and imaging data: <50 years of age, serum calcium more than 1 mg/dL above normal range, low BMD, nephrocalcinosis and nephrolithiasis, and urinary calcium excretion >400 mg/24 h, the decision was surgery. The patient was operated on in June 2013. Immediately postoperative PTH went down to 14.7 ng/L and ionized calcium to 3.98 mg/dL. Within weeks, serum ionized calcium, phosphorus, and PTH normalized and remained within normal for the past 8 years.",
"gender": "Female"
}
] |
PMC10656797
|
[
{
"age": 17,
"case_id": "PMC11387213_01",
"case_text": "A right-handed white 17-year-old male with drug resistant focal epilepsy due to neonatal intraventricular hemorrhage and venous stroke underwent phase one evaluation for epilepsy surgery. He was born full term with no pregnancy or delivery complications. Neonatal seizures with apnea, cyanosis, and right fist clenching in the newborn nursery prompted transfer to a tertiary care center, where MRI showed grade IV intraventricular hemorrhage and EEG showed additional neonatal seizures. Seizures were controlled with phenobarbital and he was discharged after two weeks. Right sided hemiparesis in the NICU subsequently resolved. Motor and speech milestones were met within expected time frames. He had a typical academic course and is now a high school senior performing at grade-level. He has never needed formal or informal supports at school.\nPhenobarbital was weaned one year after birth. At age two, he began to have occasional episodes of headaches with head nod to the right, initially thought to be a combination of migraines and tics. At 12 years of age, these episodes evolved into his current semiology, characterized by sharp pain above the left eye followed by colored static in his right hemifield. After ten seconds, bilateral hands clench, eyes dart back and forth, and with some seizures his right arm extends and he has subtle clonic head jerking to the right. Some seizures then progress to inability to speak and right hemibody clonic jerking, lasting up to four minutes with postictal confusion and difficulty walking for 12 to 48 hours. Seizures generally occur one to two times monthly; they were refractory to treatment with levetiracetam and carbamazepine but improved after titration of valproic acid. Between seizures, neurologic exam was unremarkable, with no visual field deficits.\nThe patient was admitted for phase one epilepsy surgery workup. MRI was conducted one day before neuropsychological evaluation, and showed a large cystic space (30.9 mm x 36.2 mm) centered in the lingual gyrus of left occipital lobe immediately superior to the FFA (Fig. 1), atrophy of the left hippocampus, parahippocampal gyrus, and mammillary body, and hemosiderin staining along the hippocampal sulcus. Prior to functional MRI, the Edinburgh Handedness Inventory was administered, confirming right handedness. Diffusion Tensor Imaging showed the cyst interrupts the medial left occipital subcortical white matter and outwardly displaces lateral fibers including the left inferior longitudinal fasciculus (ILF), inferior fronto-occipital fasciculus (IFOF), and optic radiations. Task-based functional MRI showed displacement of typical blood-oxygen-level-dependent (BOLD) activation in response to right visual field stimuli to the occipital cortex posterolateral to the cyst and confirms left hemisphere dominance for language tasks. Fluorodeoxyglucose - positron emission tomography (PET) was normal aside from hypometabolism in the distribution of the cystic space.\nVideo EEG captured four brief typical seizures with head pain, head twitch, and behavioral arrest, associated with one to five second bursts of bilateral posterior polyspikes at 1-2 Hz with left hemisphere predominance on EEG. Interictal scalp EEG showed sharply contoured left temporo-occipital slowing with intermixed spikes, and high-definition EEG (128-electrode cap) with source localization showed that epileptiform discharges arose from the posterior margin of the left occipital cyst.\nFor neuropsychological evaluation, his parent's primary concern was difficulty with emotion regulation. Parent and self-report checklists were not supportive of any mental health diagnoses. Results showed low average intellectual functioning (Table 1). His cognitive profile was notable only for a few specific impairments. Despite being able to accurately perceive and recall objects, an exceptionally low performance on the Weschler Memory Scales-III Faces recognition task prompted us to investigate facial processing more in depth. He was able to identify emotions. Spontaneous recognition of famous faces was low (2/10) and improved with semantic cuing (7/10; i.e., occupation). He did not recognize the three unidentified faces. No pediatric-normed assessment of famous faces exists, so we created our own for clinical use (see supplemental material for details). The Prosopagnosia Index-20 (PI-20) was added strictly for academic purposes and was rated as within normal limits, although no pediatric norms exist. Endorsements on the PI-20 contradicted clinical report of difficulty recognizing faces of familiar people and famous individuals. For example, the patient stated he \"never pictures individual faces in his mind,\" but provided a rating of '3' on the 1-5 \"strongly disagree\" to \"strongly agree\" Likert scale for the item \"I find it easy to picture individual faces in my mind.\" Similarly, he \"strongly disagreed\" with \"my friends and family think I have bad face recognition or bad face memory\" but his parents stated this skill is problematic. He reported difficulty \"putting a name to a face,\" recognizing himself in photographs, differentiating people wearing similar clothing, and difficulty recognizing celebrities in \"before-they-were-famous\" photos. He explained he often uses movement cues, voice, and clothing as identifiers.\nCrawford et al. describe methods for testing for deficits in a single case compared to a control sample. Using Crawford's singlims_ES.exe program, we confirmed our patient's facial recognition is impaired on the Benton Face Recognition Test (BFRT) compared to controls (two-tailed t(2 8 6) = -2.37, p = 0.018, 95% CI [-2.6 to -2.15]). Using Crawford's point estimate calculation, his score on the BFRT is below the second percentile. Applying Crawford's point estimate calculation, his object recognition on the Hooper Visual Organization Task is better than 83 percent of controls (two-tailed t(1 6 6) = 0.22, p = 0.83, 95% CI [0.06 to 0.37]); note these percentiles do not correspond to the percentiles of his standard scores reported in Table 1. The selective impairment in face recognition in the context of intact and even strong object recognition supports a diagnosis of prosopagnosia.",
"gender": "Male"
}
] |
PMC11387213
|
[
{
"age": 59,
"case_id": "PMC11390346_01",
"case_text": "Patient was a 59-year-old female who did not smoke and had no surgical history or previous medical history such as cancer history other than lung cancer, and family history of lung cancer. The patient was admitted to our hospital because of repeated cough for 3 months and streaking of sputum with blood discontinuously for 1 month, denying symptoms such as fever, dizziness, vomiting, blood in the stool or breathing difficulties. There were not significant weight loss and loss of appetite. Chest computed tomography (CT) ( Figure 1 ) showed the wall of the middle segment bronchus, middle lobe and lower lobe bronchus of the right lung was thickened, with stenosis and local truncation of the lumen. A mass of high-density shadow with the unclear nodule border was found in the lower lobe of the right lung. The size was 3.1cm x 4.2cm, and the CT value was about 28HU. The boundary between the lesion and the adjacent interlobar pleura was not clear, and the lesion wrapped around the arteries and veins of the lower lobe of the right lung, with patchy high-density shadows at the distal end. There were nodular hyperdense shadows observed in the upper lobe of both lungs, the middle lobe of the right lung, and the lower lobe of the left lung, with the size of 0.2-0.9cm. Magnetic resonance imaging (MRI) and CT of the abdomen and pelvis did not reveal a space-occupying lesion. The patient underwent bronchial biopsy and brushing, the histopathological examination revealed non-small cell carcinoma in the basal segment of the right lower lobe. A large number of neutrophils, small amount of glandular epitheliums, squamous epithelium and macrophages were found in the specimens. The results of immunohistochemical (IHC) staining ( Figure 2 ) were suggestive of high-grade MEC. IHC analysis showed CK (AE1/AE3) (+), CK7 (-), p63 (+), TTF-1 (-), NapsinA (-), Ki67 (positive rate 40%), GATA3 (+), HER-2 (0), CK20 (-), and ER (-). These results suggested that the pathological stage was T4N2M1a and the clinical stage was IVA.\nFurther detection of next generation sequencing (NGS) revealed EML4-ALK fusion variants E20:A20 (V2) ( Figure 3 ). No mutations were detected in genes that are significantly mutated in lung cancer, such as BRAF, EGFR, ERBB2, KRAS, MET, NTRK1, NTRK2, NTRK3, RET and ROS1. The captured samples were sequenced on MGISEQ-2000 using a panel consisting of 769 genes. The diagnosis and prognosis were explained, and the patient received targeted therapy. The patient was treated with lorlatinib 100mg once daily orally. The response was evaluated by chest CT imaging at 1, 6 and 14 months after lorlatinib, showing that the tumor volume was reduced ( Figure 1 ). At the indicated time points, the tumor long diameters were 50.79mm, 31.58mm, 31.18mm and 28.51mm, respectively. Importantly, we achieved a prominent partial response (PR) as the tumor volume decreased more than 37% after 1 month treatment and the trend of tumor shrinkage was observed over the entire 14-month evaluation period. It was worth noting that the reduction of tumor growth became more apparent as the tumor surrounded the trachea actually. There was a noticeable improvement in the patient's symptoms with no adverse reactions. Therefore, the patient continued the current regimen and followed up regularly.",
"gender": "Female"
}
] |
PMC11390346
|
[
{
"age": 21,
"case_id": "PMC11026069_01",
"case_text": "We present a 21-year-old male with DMD referred for corrective visual evaluation. This patient used a wheelchair due to mobility issues and had concomitant cardiomyopathy, restrictive lung disease, extremity contractures, diabetes, hypertension, and significant kyphoscoliosis. The patient was on prednisone 70 mg 3 times per week. He was also on carvedilol, spironolactone, and lisinopril.\nThe patient's right eye was -2.50 D x -1.00 @005, and the cornea was 44.2/43.8 @176. Uncorrected visual acuity was 20/300 (LogMAR 1.176), and best-corrected visual acuity (BCVA) was 20/20-3 (LogMAR 0.06). The patient's left eye was -2.25 D x -1.75 @155 with an uncorrected visual acuity of 20/500 (LogMAR 1.4) and a BCVA of 20/20 -1 (LogMAR 0.02). The cornea was 44.6/42.9 @135. Both pupils were equal, round, and reactive to light and accommodation. In addition, visual fields were found to be full to confrontation bilaterally. These findings are consistent with previous reports of patients with DMD.\nOn slit lamp examination, the patient showed a posterior subcapsular cataract (PSC) of 3 mm x 2 mm on the right eye and 2 mm x 2 mm on the left eye (Fig. 2). These cataracts were attributed to DMD with chronic corticosteroid use. However, the PSC was not dense enough in the central vision to significantly reduce the BCVA but would have likely led to a further decrease in BCVA as time progressed. The patient was also unable to lie supine with his neck in the neutral position, and severe upper extremity contractures limited the ability to position the patient for corrective vision surgery. Given these findings, the patient was not found to be a candidate for visual corrective surgery. Cataract surgery was not advised at the time of consultation. The CARE Checklist has been completed by the authors for this case report, attached as online supplementary material (for all online suppl. material, see https://doi.org/10.1159/000533579).",
"gender": "Male"
}
] |
PMC11026069
|
[
{
"age": null,
"case_id": "PMC11234190_01",
"case_text": "The patient was a healthy Japanese girl with normal intelligence. At 9 yr of age, the patient presented with polydipsia, polyuria, and anorexia. Her fluid intake ranged from 2,000 to 2,500 mL/d, and her 24-h urine volume was approximately 3,000 mL/d. She lost 3 kg in a month prior to the presentation. Her growth chart showed insufficient weight gain but normal growth velocity (Fig. 1). During the initial examination, the patient had a serum sodium concentration of 149.8 mEq/L. Water deprivation test showed a urine specific gravity of 1.004, urine osmolality of 117 mOsm/L, and plasma arginine vasopressin (AVP) of 0.5 pg/mL, despite serum sodium concentration of 151 mEq/L and serum osmolality of 305 mOsm/L. The visual analog scale (VAS) indicated a reduced OTT and hypodipsia. She had little thirst but did not want to drink water at a serum sodium concentration of 151-151.5 mEq/L (Fig. 2A). Contrast-enhanced magnetic resonance imaging revealed enlargement of the pituitary gland and stalk (Fig. 3A). Pathological findings of the biopsy specimens obtained from the pituitary stalk included lymphocyte-like cells with deformed nuclei that were positive for S100 and CD1a and negative for CD3 and CD20, confirming LCH. An endocrinological examination revealed a mild growth hormone deficiency. Positron emission tomography-computed tomography and other imaging studies did not reveal any other lesions. She was diagnosed with AVD and impaired OTT due to HP-LCH and was started on 240 mug of oral desmopressin per day. To avoid severe hyper- or hyponatremia, her body weight was measured twice daily, and water intake was controlled. Chemotherapy was administered according to the JLSG-02 protocol for multisite, single-system, or multisystem disease. After induction, a regimen comprising 6 wk of combined treatment with cytosine arabinoside, vincristine, and prednisolone reduced pituitary gland and stalk size (Fig. 3B). Subsequently, 24 wk of maintenance regimen A, comprising cytosine arabinoside, vincristine, prednisolone, and methotrexate, was administered. Then, 24 wk of maintenance C regimen comprising vinblastine, prednisolone, methotrexate, and 6-mercaptopurine was administered. The chemotherapy was completed without interruption after 12 mo. Body weight increased rapidly with no apparent increase in growth velocity (Fig. 1). During chemotherapy and the follow-up sessions, strict weight control was no longer required. Although she was allowed unrestricted water intake, sodium level was maintained at 138.9-142.9 mEq/L. Oral desmopressin dosage requirements remained unchanged. The enlargement of the pituitary gland and stalk did not recur. The growth rate was maintained at normal levels of insulin-like growth factor 1. Anterior pituitary function, including growth hormone levels, was not impaired. Three months after the completion of chemotherapy, AVP secretory capacity did not improve in the hypertonic saline test. The maximum serum sodium concentration was 151.2 mEq/L, serum osmolality was 308 mOsm/L, and plasma AVP was less than 0.4 pg/mL. Meanwhile, according to VAS evaluation, she felt a sense of thirst at a serum sodium concentration of 142.3-144.6 mEq/L, at which point she did not feel any thirst prior to the initiation of chemotherapy. With a serum sodium concentration of 148.7 mEq/L, the patient wanted to drink water (Fig. 2B). This suggests that her sense of thirst had normalized.\nThis study complied with all relevant national regulations and institutional policies as well as the tenets of the Helsinki Declaration. We received approval from the ethics committee of Keio University School of Medicine (20150104) and provided opt-out statements.",
"gender": "Female"
}
] |
PMC11234190
|
[
{
"age": 68,
"case_id": "PMC11385687_01",
"case_text": "A 68-year-old anuric male patient undergoing regular hemodialysis (HD) treatment for end-stage kidney disease secondary to ADPKD was admitted to our hospital because of recurrent upper right flank pain. He had been suffering from a hepatic cyst in the context of the disease. At 38 years old, he was diagnosed with ADPKD based on a positive family history. His grandfather had a history of subarachnoid hemorrhage. He was subjected to the creation of an autogenous arteriovenous fistula in his forearm eight years prior, at which point regular HD treatment three times per week was commenced. The course of HD, which required heparinization for anticoagulation, was uneventful, and his casual blood pressure, including the HD session, was well controlled at approximately 120/70 mmHg with amlodipine besilate 5 mg/day and telmisartan 40 mg/day. He also underwent treatment for hyperphosphatemia with calcium carbonate 3000 mg/day, thereby leading to phosphorus levels ranging from 4.0 to 5.5 mg/dL, while his serum levels of calcium and intact parathyroid hormone (PTH) had been maintained at approximately 9.0 mg/dL and 90 pg/mL, respectively. His medical history also included insomnia, for which he received sporadic medical care. He had a 24-pack-year history of cigarette smoking and no exposure to a specific environment or activity. The patient denied any history of allergies.\nThree months prior to this admission, he had developed hepatic cyst infection due to Klebsiella pneumoniae, which was detected in the blood culture. At that time, the patient had right-sided abdominal pain, an intermittent fever with chills, and reduced appetite. Elevated serum levels of C-reactive protein (CRP) of 17.52 mg/dL and procalcitonin (PCT) 2.48 ng/mL were also noted. Although initial management with empirical intravenous meropenem achieved limited disease control, the patient was favorably managed with a 5-week course of intravenous cefotaxime (2 g, daily) combined with oral metronidazole (500 mg, thrice daily), which led to a consequent decrease in CRP to 0.9 mg/dL, under multidisciplinary collaboration involving surgeons and infectious disease specialists. Four weeks after quitting treatment, he started to complain of abdominal symptoms again; thus, he was admitted to our hospital.\nAt the time of admission (clinical day 0), his body temperature was 37.1 C. A laboratory evaluation revealed the following results: white blood cell count (WBC), 4300/microL; hemoglobin, 11.3 g/dL; platelet count, 10.4 x 104/microL; serum creatinine, 6.69 mg/dL; aspartate aminotransferase, 19 U/L; alanine aminotransferase, 9 U/L; lactate dehydrogenase, 210 U/L; gamma-glutamyl transferase, 118 U/L; alkaline phosphatase, 517 U/L; CRP, 5.17 mg/dL; and PCT, 0.432 ng/mL. After confirming the patient's clinical presentation, we reintroduced the same therapeutic regimen. However, a generalized pruritic erythematous rash involving his chest, abdomen, trunk, arms, and lower extremities became remarkable four days after resuming treatment; thus, he was suspected of having a drug allergy. Both cefotaxime and metronidazole were discontinued and substituted with intravenous levofloxacin (500 mg, every 48 h). While investigations at that time revealed an elevated CRP level of 4.59 mg/dL, the right flank pain as well as the itching subsided, and the CRP level decreased to 0.57 mg/dL two weeks later when the patient developed right ankle pain impairing his walk ability despite bed rest without any physical activity.\nMagnetic resonance (MR) imaging of the right ankle indicated the presence of inflammation in the soft tissue around the right Achilles tendon (Figure 1); therefore, the patient was suspected to have fluoroquinolone-associated tendinopathy. We decided to switch the levofloxacin to oral doxycycline (200 mg/day) and alleviate the strain to the tendon. Three weeks later, his leg symptoms improved, and walking resumed without difficulty, while his serum CRP levels fluctuated ranging from 3.7 to 4.5 mg/dL. The patient did not complain of right flank pain or pruritic rash and was discharged (Figure 2). \nDuring the next two months, the patient did not experience recurrence of right ankle pain; however, he died of fatal cerebral bleeding despite the fact that periodic intracranial screening with MR angiography had not detected any structural vascular abnormalities, such as aneurysms. Oral antibiotic treatment was continued until two weeks before he passed away.",
"gender": "Male"
}
] |
PMC11385687
|
[
{
"age": 49,
"case_id": "PMC11254456_01",
"case_text": "A 49-year-old female patient presented to our emergency department (ED) for dysarthria, mild-to-moderate confusion, and psychomotor slowing for the past 4 hr. She had worsening fatigue and generalized edema for the past month. She had a newly diagnosed high-grade invasive ductal carcinoma and had received four cycles of chemotherapy (CTX), including paclitaxel and carboplatin, combined with immunotherapy (ITX) as pembrolizumab was used. The concluding treatment cycle was 4 months prior to this presentation, after which she underwent left-sided mastectomy. Note that the presentation was a total of approximate 8 months from the start of therapy. She is now solely receiving breast radiation therapy (RTX).\nOn physical exam, the patient had a blood pressure of 90-100/50-60 mmHg, corrected body temperature of 35.1 C, heart rate reaching 51 bpm, and a capillary blood glucose of 36 mg/dL. She was cooperative and could follow commands with slower than baseline responses, yet her orientation with respect to time and place GCS 11. Thyroid was palpable, nontender, and without any apparent nodules or lymph nodes. The face, mouth, and the dorsal sides of both hands and feet were all edematous and cold to touch. Cardiopulmonary and abdominal examinations were otherwise normal.\nOn paraclinical evaluation, an urgent brain magnetic resonance imaging (MRI) excluded any stroke or central process, plus the pituitary was intact. A transthoracic echocardiogram (TTE) showed a normal ejection fraction along with a lack of valvular heart disease. Chest X-ray was clear from any signs of infection. Labs included a normal serum creatinine of 0.83 mg/dL and within-range liver enzymes. Complete blood count and differential were all normal, and procalcitonin was negative. However, thyroid function tests (TFTs) revealed a serum thyroid-stimulating hormone (TSH) level of 73.7 mU/L (0.35-4.5), while free thyroxine (FT4) and free triiodothyronin (FT3) were both undetectable. Anti-thyroid peroxidase (Anti-TPO) antibodies reached a high of 757 U/mL (normal < 60), as thyrotropin receptor antibodies were negative.\nRandom serum cortisol taken on presentation plummeted at 8 nmol/L (normal 140-690), and adrenocorticotropic hormone (ACTH), while on hydrocortisone supplementation in the ED (started in ER due to suspicion of AI before taking serum cortisol level), was 2.3 pg/mL (normal 4.7-48.8). The 21-hydroxylase antibodies were negative, aldosterone was 57.0 pmol/L (61.3-979), renin 1.97 muUI/mL (4.40-46.1), and a ratio of aldosterone to renin was 29 pmoL/mUI (under supraphysiologic hydrocortisone supplementation). Androstenedione and total testosterone were normal. Serum sodium was 134 micromol/L and potassium was 3.7 micromol/L. Liver functions AST and ALT were 44 and 58 U/L, respectively.\nBased on the clinical symptoms and the paraclinical findings, the patient was diagnosed with myxedema coma (MC) and secondary adrenal insufficiency (AI), likely secondary to postpembrolizumab therapy. She was started on high-dose intravenous (IV) hydrocortisone (initially 100 mg iv bolus followed by 50 mg every 6 hr) to compensate for the severe AI, followed by levothyroxine 400 mcg IV replacement for the MC. Intense IV hydration was also applied. She received IV dextrose with external warming of 0.5 C/hr. The patient was transferred to the intensive care unit (ICU) where she was monitored closely for any signs of respiratory depression, exacerbation of further bradycardia, worsening hypoglycemia and hyponatremia, or any other hemodynamic or clinical instability.\nThe overall clinical status of the patient improved gradually the following day with signs of progress in her psychomotor ability and cognitive status. Her body edema also began to subside slowly. The vital signs returned to normal ranges. Follow-up TFTs on day 6 showed a significant improvement in TSH, FT4, and FT3 reaching 51.2 mU/L, 10.5 pmol/L (12-30), and 2.7 pmol/L (2-7), respectively. As a result, the supplementation of levothyroxine was switched to oral therapy (100 mcg daily). As for the hydrocortisone, the dose was switched to 10 mg by oral route twice daily. The patient was successfully discharged home a few days later after a return to neurologic and psychomotor baseline. On follow-up clinic visit, 7 weeks postdischarge, the patient was clinically well and denied any complaints. TSH, FT4, and FT3 were 11.75 mU/L, 13.5, and 4.3 pmol/L, respectively. The patient was put on levothyroxine 125 mcg daily while keeping the same dose of hydrocortisone.\nCosyntropin stimulation test failed to increase the morning serum cortisol to a normal range at 30 min (129 nmol/L) and at 60 min (103 nmol/L) (target was >500 nmol/L), which confirmed the persistence of AI. Thyroid ultrasound showed homogeneous thyroid parenchyma with hypervascularized hypoechoic areas on color Doppler that suggested foci of thyroiditis. The patient was kept on oral levothyroxine and hydrocortisone, with continued follow-up planned ahead.",
"gender": "Female"
}
] |
PMC11254456
|
[
{
"age": 44,
"case_id": "PMC10808685_01",
"case_text": "A 44-year-old woman presented to our hospital with cyclical abdominal pain, primarily located near the left side of her cesarean section (CS) scar. During the physical examination, a palpable mass was identified on the left side of the CS scar, while a bimanual examination did not reveal any abnormalities within the pelvis. Her obstetric history included two previous CS procedures one 17 and the other 15 years ago. Additionally, she had undergone surgical excision of an AWE mass 13 years previously. Following her second CS, the patient developed cyclical pain and skin pigmentation at the CS scar site. Subsequently, she underwent surgical excision of an AWE lesion on the right side of the CS scar, as confirmed by the pathology report. Initially, the patient experienced relief from symptoms after the surgery. However, five years later, the symptoms recurred.\nTo manage the pain, the patient was prescribed 2 mg dienogest per os daily for eight years, which provided adequate symptom control. Two months ago, due to worsening pain, she received two monthly courses of 3.75 mg triptorelin intramuscularly; however, it did not alleviate her symptoms. Consequently, she sought further management at our hospital.\nPelvic magnetic resonance imaging (MRI) revealed multiple round and ovoid formations within the lower region of both the right and left rectus abdominis muscles, exhibiting a hyperintense signal on both the T1- and T2-weighted images. Similar lesions were also found within the subcutaneous tissue near the outer lower region of the rectus abdominis muscle, measuring 13.1 x 17.8 mm. The MRI also indicated findings consistent with adenomyosis. Signs of pelvic endometriosis were not reported in the MRI report (Figure 1). Her cancer antigen 125 (CA125) and carbohydrate antigen 19-9 (CA19-9) levels were 51.40 U/ml and 464.42 U/ml, respectively. Considering the patient's past history of AWE, typical clinical presentation, and imaging findings, the most likely diagnosis was a recurrence of AWE. Therefore, surgery for lesion excision and histological confirmation was scheduled.\nLaparotomy was performed, and an endometrioid lesion measuring 7 x 5 cm was found in the midline of the rectus abdominis sheath. Additionally, another lesion measuring 1.5 x 1 cm was identified on the left external oblique muscle. A chocolate-like fluid sac was found within the larger AWE lesion. Both AWE lesions were surgically removed with negative surgical margins as confirmed by the pathology report. Considering the patient's documented history of histologically confirmed AWE and the typical presentation, the risk of malignancy was deemed low. Consequently, no indication for a frozen section was present. The defects in the aponeuroses were repaired using tension-free procedures with dual-sided meshes (Figure 2).\nThe pathology report identified both specimens as \"endometriotic cysts\" noting presence of hemosiderin, histiocytes, endometrial stroma and cystic dilatation of endometrial glands with intraluminal necrosis, hemorrhage, histiocytes, nuclear debris, and inflammatory cells. The glands exhibited moderate nuclear atypia and hobnail cell appearance. Surgical margins were negative in both specimens.\nThe patient recovered smoothly without complications and was discharged just two days after surgery. She has since found relief from the cyclic pain, achieving the desired outcome. Even though the patient was disappointed by the recurrence of AWE and the need for a second surgery, she found satisfaction in the easy and uncomplicated recovery, allowing for a swift return to her everyday routine. With symptoms relieved after recovery, she feels content with the decision to opt for surgical management following the failure of medical interventions.\nGiven that the diagnosis of AWE recurrence is primarily established clinically based on symptoms, the follow-up plan now includes interview and physical examination during her annual routine gynecological care visits (Figure 3).",
"gender": "Female"
}
] |
PMC10808685
|
[
{
"age": 50,
"case_id": "PMC10630022_01",
"case_text": "A 50-year-old male patient with sudden visual acuity loss in his right eye came to our clinic. Visual acuity at presentation was 1/10 in right eye and 10/10 in left. The patient was otherwise healthy Caucasian man without any history of previous systemic or ophthalmic disease. There were not any history of amblyopia and refractive error. Anterior segment findings were unremarkable. Intraocular pressure with Goldmann's applanation tonometer was 18 mm Hg in his both eyes. As evident in Figure 1(a), three quadrants of retina are fully involved with central retinal vein occlusion (CRVO) features including retinal hemorrhages, retinal edema obscuring retinal details, and cotton wool spots while sparing inferior temporal quadrant. Systemic workup, including HbA1c, complete blood count, homocysteine level, protein C, protein S, and factor 5 Leiden, and rheumatic disease workup were within normal limits. Blood pressure was 125/80.\nDetails of vascular supply in the optic disk (Figure 1) clear that inferior temporal retinal vein is not separated from main superior vein trunk. Actually, there are two main venular trunks at the optic nerve head, and the superior trunk is divided to three branches: superior temporal, superior nasal, and inferior nasal branches. The inferior main venular trunk drains blood from inferior temporal part of retina. The three branches of superior venular trunk supply the involved quadrants of patient retina proving to have common origin. Inferior trunk supplies inferotemporal quadrant that is not involved in this patient; this inferior trunk has no division. Inferior temporal quadrant sparing in this patient is due to retinal vascular anatomical variation.\nUnfortunately, to the best of our review, there is no published data regarding central retinal vein anatomical variations and their prevalence; however, in our experience, the most common variation for retinal artery and vein could be like the one shown in Figure 1(d). As it is shown, there is a single arterial end of the central retinal artery (blue arrow), and it is divided into superior and inferior branches; the superior one gives superior nasal and superior temporal arteries. The inferior branch gives inferior nasal and inferior temporal arteries. There is also a single venular trunk of central retinal vein (white arrow) divided into superior (S) and inferior (I) branches; the superior one gives superior nasal (SN) and superior temporal (ST) veins. The inferior branch gives inferior nasal (IN) and inferior temporal (IT) veins.",
"gender": "Male"
}
] |
PMC10630022
|
[
{
"age": 70,
"case_id": "PMC11225421_01",
"case_text": "A 70-year-old woman with a history of hypertension, dyslipidemia, and chronic neck pain for 3 years was admitted to a local hospital after experiencing progressive paraparesis over 2 weeks. She reported accompanying neck and back pain but no visual or bulbar symptoms nor a history of trauma. Two days before her hospital admission, she developed bowel and bladder dysfunction. Magnetic resonance imaging (MRI) with a 1.5 Tesla scanner of the entire spine revealed an abnormal T2 hyperintensity affecting both the gray and white matter, sparing only the peripheral regions of the spinal cord, extending from the cervicomedullary junction to the conus medullaris, indicative of holocord edema. In addition, disc herniation and thickening of the ligamentum flavum were observed, causing moderate to severe spinal stenosis at the levels of C3-4, C4-5, C5-6, and C6-7. No abnormal flow voids were reported in the radiological analysis [Figures 1 and 2]. Lumbar puncture showed opening/closing pressures of 13/10 mmH2O, and cerebrospinal fluid (CSF) analysis revealed 0 red blood cells, 79 white blood cells with 3% polymorphonuclear cells and 97% lymphocytes, a glucose level of 71 mg/dL (with a corresponding blood sugar level of 199 mg/dL), and a protein concentration of 155.3 mg/dL. The initial diagnosis considered was longitudinally extensive transverse myelitis (LETM), with neuromyelitis optica spectrum disorder (NMOSD) being the most probable cause. The serum antiaquaporin-4 immunoglobulin G (AQP4-IgG) antibody was negative. The patient was managed with methylprednisolone pulse therapy for 5 days, but the power in her lower limbs progressively deteriorated from grade 3 to grade 2. Consequently, she was referred to a specialized facility for plasma exchange treatment. The consulting neurologist at the facility questioned the LETM diagnosis and transferred the patient to our institute for further evaluation and management.\nOn neurological examination at our institute, evidence of spastic paraparesis was noted, with muscle strength rated at 1-2/5. In addition, the patient lacked pinprick sensation below the T6 level and showed impaired proprioception below the knees. A follow-up MRI using a 3 Tesla scanner and 3D T2-weighted sampling perfection with application-optimized contrasts using different flip angle evolution (SPACE) conducted 1 month after the initial symptoms emerged showed the spinal cord edema extending up to the lower brainstem, with subtle perimedullary flow voids at the thoracic level. The imaging also confirmed severe spinal stenosis at L2-3 and L3-4 levels due to disc herniation and ligamentum flavum thickening [Figure 3]. Contrast-enhanced magnetic resonance angiography (MRA) of the entire spine revealed tortuous and enlarged intradural vessels along the anterior surface of the spinal cord, from the conus medullaris to the cervical level, suggesting a left-sided spinal DAVF at the lower thoracic level [Figure 4]. Despite whole spinal angiography, the precise location of the fistula remained unidentified. The decision was made to proceed with intracranial angiography, which fortunately revealed a left DAVF at the CCJ. This fistula was supplied by the radiculomeningeal branch of the left vertebral artery at the C1 level, with draining veins extending to the medulla and the entire spinal cord through the dilated left lateral medullary vein [Figure 5].\nGiven the challenging nature of the fistula's small and tortuous feeding artery, surgical intervention was deemed necessary. The patient underwent a left suboccipital craniotomy and C1 hemilaminectomy in a right lateral decubitus position. The vertebral artery and proximal draining vein were identified, and the proximal draining vein's disconnection was confirmed with intraoperative indocyanine green angiography, which showed no fluorescent flow post-coagulation [Figure 6]. The patient's postoperative recovery was smooth, and follow-up angiography 2 weeks later confirmed the complete elimination of the fistula [Figure 7a]. Further, MRA of the left vertebral artery and MRI of the entire spine 4 months post-surgery showed complete resolution of venous congestion and no recurrence of the fistula [Figures 7b and 8]. Remarkably, the patient regained the ability to walk with a walker 4 months postoperation and experienced almost complete resolution of her bowel and bladder dysfunction at the 6-month follow-up.",
"gender": "Female"
}
] |
PMC11225421
|
[
{
"age": 25,
"case_id": "PMC10810389_01",
"case_text": "A 25-year-old man resident of Pauri Garhwal, Uttarakhand, reported asymptomatic swelling over the right mandibular area on the face for 6-month duration. He gives a history of nodular swelling over the right calf 9 months ago, associated with mild itching and redness, which subsided spontaneously within a week and then involved chronologically and intermittently the right thigh, right hip, right side of the chest, and finally the eyes, where he had two to three similar episodes over 3 months. The individual swellings were coin-sized, lasted for 7-10 days each, and subsided on their own without leaving any sequelae. There was a history of treatment with oral albendazole and ivermectin 6 months ago, after which the intermittent swellings over the body stopped and a swelling over the right side of the face appeared with a waxing and waning course. There was no history of fever, breathlessness, travel outside the country, dryness or discoloration of the skin, scrotal swelling, cough, hemoptysis, trauma, or specific aggravating or relieving factors. On clinical examination, the nodule was 2 cm in maximum dimension, firm, subcutaneous, mobile, and nontender with no rise in local temperature [Figure 1].\nThe routine blood investigations including midnight peripheral blood smear were within normal limits. Ultrasonography (USG) revealed the filarial dance sign and a live worm in the subcutaneous swelling [Figure 2 and Video 1]. X-ray of the skull did not show any calcification of nodules. Magnetic resonance imaging (MRI) revealed a facial subcutaneous cystic lesion with a few thin linear hypointensities within, no extension into the right masseter muscle, and no edema of the surrounding subcutaneous planes or muscle. Fine-needle aspiration cytology (FNAC) of the lesion was negative for microfilaria. The immunochromatographic test (ICT) for filarial antigen was positive, which indicated W. bancrofti. Complete excision of the 2 x 2 cm mass was done, and a live, white thread-like moving worm measuring 7 x 0.1 cm was found on dissecting the mass [Figure 3 and Video 2]. Histopathology revealed a cross section of adult worm along with fibrocollagenous tissue with chronic inflammatory infiltrates in the form of lymphocytes, plasma cells, and histiocytes. No microfilaria was identified in the tissue. The postoperative period was uneventful, and the patient was simultaneously treated with one dose of oral ivermectin stat and course of oral diethylcarbamazine for 3 weeks.",
"gender": "Male"
}
] |
PMC10810389
|
[
{
"age": 65,
"case_id": "PMC10716199_01",
"case_text": "A 65-year-old man with a past medical history of type 2 diabetes on insulin and hyperlipidemia on atorvastatin presented to the emergency department with complaints of umbilical abdominal pain radiating to his back for a year prior. He had experienced constant, increasing pain over the past month that resulted in difficulty in sleeping due to overwhelming pain. He had some itching of his palms bilaterally and associated fatigue. He denied any fevers, chills, night sweats, headaches, yellowing of his eyes or skin, nausea, vomiting, diarrhea, or unintended weight loss. He also was able to eat a significant amount of food and denied early satiety. He took no medications. He had no smoking history and drank 2 beers a month. He had no family history of pancreatic or gastrointestinal cancers. His physical exam was notable for epigastric pain to light palpation without visible nodules or masses. He had no jaundice or scleral icterus.\nHis laboratory work was notable for a total bilirubin level of 0.3 mg/dL (reference, 0.4-2.0), aspartate aminotransferase of 18 U/L (reference, 15-37), alanine aminotransferase of 20 U/L (reference, 16-61), and alkaline phosphatase of 71 U/L (reference, 45-117). Computed tomography (CT) of the chest, abdomen, and pelvis was notable for a mass of 3.8 cm x 1.9 cm at the head of the pancreas concerning for a neoplasm with adjacent lymph nodes. Both the pancreatic mass and the lymph node were larger compared with that in an initial CT performed about 4 weeks earlier. The lungs were without metastatic foci ( Figures 2A, B ).\nHe was referred to a tertiary care center for a biopsy and further care. A week later, he underwent an endoscopic ultrasound sonography (EUS) that showed a malignant-appearing pancreatic mass, 31 mm x 23 mm, at the uncinate process with upstream dilatation of the pancreatic duct and distal obstruction from the mass without dilation. There were no endosonographic abnormalities of the esophagus, stomach, and duodenum. The EUS-guided fine needle aspiration (FNA) demonstrated poorly differentiated malignant cells with both squamous and glandular differentiation ( Figure 3 ). Direct communication with the pathologist rendering the diagnosis indicated that the squamous cell was the dominant feature. He had baseline tumor markers with a carcinoid embryonic antigen (CEA) of 2.4 ng/mL (reference, 0.0-3.0) and a carbohydrate antigen (CA) 19-9 of 93 U/mL (reference, <35). Next-generation sequencing of his tumor was notable for microsatellite stability, a programmed death ligand-1 percentage of 5%, with wild-type Neurotrophic tropomyosin receptor kinase 1/2/3/4, v-Raf murine sarcoma viral oncogene homolog B (BRAF), and Neuregulin 1 status. There was an insufficient quantity of malignant cells for whole-exome sequencing. We subsequently performed a positron electron tomography (PET)/CT that demonstrated a large f-fluorodeoxyglucose (FDG)-avid pancreatic mass compatible with the primary neoplasm and multiple avid lymph nodes consistent with nodal disease but no distant metastases.\nGiven the uniqueness of the tumor, the case was presented at a multidisciplinary tumor board meeting that recommended a combination regimen of gemcitabine (800 mg/m (2)), cisplatin (25 mg/m (2)), and nab-paclitaxel (100 mg/m (2)) every 14 days for six cycles. We planned to refer for surgical intervention if subsequent imaging confirmed improvement.\nThe first cycle of chemotherapy was administered 3 weeks after his FNA. After completing four cycles of chemotherapy, he reported a complete resolution of his abdominal pain. His CEA remained within normal range at 2.8 ng/mL, and his CA 19-9 decreased to normal range at 19 U/mL. After the fifth cycle of chemotherapy, we performed a response evaluation CT of the chest, abdomen, and pelvis, which demonstrated a decreased pancreatic head mass size (2.1 cm x 1.0 cm), decreased lymph node size, and no new lymphadenopathy or metastatic disease ( Figures 2C, D ). He completed his sixth cycle of chemotherapy, and, 2 weeks later, he underwent a pylorus-preserving Whipple procedure with a hilar lymphadenectomy and falciform ligament patch on the stump of the gastroduodenal artery with negative intraoperative frozen section margins. The pathology showed no residual carcinoma with resection margins free of malignancy or high-grade dysplasia, with no malignant cells identified in all 20 lymph nodes. He was staged as an ypT0N0 (0/20)Mx after surgery. At 3 months follow-up visit with repeat imaging, CT chest, abdomen, and pelvis, no evidence for residual or metastatic disease was demonstrated. He recovered well from surgery and continues to live with high quality of life.",
"gender": "Male"
}
] |
PMC10716199
|
[
{
"age": 53,
"case_id": "PMC10705831_01",
"case_text": "A 53-year-old female with a complex psychiatric history including generalised anxiety disorder, recurrent severe major depressive disorder, bipolar disorder, attention deficit hyperactivity disorder and chronic pain syndrome, presented to the emergency department after ingesting multiple medications.\nShe had ingested clonidine (~6 mg), fluoxetine (1.2 g), gabapentin (~9 g), quetiapine (~6 g) and bupropion (~13.5 g). The patient arrived from another medical facility requiring sedation and intubation due to recurrent seizures. Upon arrival, she received IV levetiracetam with no effect and was on midazolam infusion, along with phenobarbital.\nShe was admitted directly to the intensive care unit in our tertiary facility. Initially, she was on a norepinephrine drip to maintain mean arterial pressure at 65 mmHg; however, she quickly required multiple other pressors (vasopressin, epinephrine and phenylephrine) for further haemodynamic support. Physical examination revealed myoclonic movements, symmetrical pupils with minimal response, flaccid muscle tone, and normal cardiovascular and lung findings. Laboratory investigations revealed normocytic normochromic anaemia, mildly elevated creatine kinase, elevated lactate level and significant acidemia.\nAn electrocardiogram (EKG) showed a new junctional wide complex left bundle branch block with a prolonged QTc interval (Fig. 1). Transthoracic echocardiography demonstrated severely reduced biventricular systolic function, severe global hypokinesia of the left ventricular walls and an ejection fraction of 30%.\nThe patient was started on a bicarbonate infusion as maintenance fluid and to address acidemia. Additionally, she was given calcium and magnesium to help with the prolonged QTc and cyproheptadine for possible serotonin syndrome. Given her continued haemodynamic compromise, she was evaluated for veno-arterial extracorporeal membrane oxygenation. Unfortunately, she required an assessment of higher brain function, and that was challenging given that she was on midazolam infusion for sedation and seizure control.\nThe decision was made to initiate intravenous lipid emulsion therapy. By the end of day 1, the patient's EKG showed a normal sinus rhythm with a normal QTc interval. On the following morning (day 2), there was an improvement in the patient's blood pressure, and she no longer required any vasopressor support. A repeat transthoracic echocardiography performed on day 3 revealed normal biventricular systolic function, with an ejection fraction of 60%.\nUnfortunately, the patient's condition worsened as she developed type II respiratory failure, necessitating increased ventilation support. The patient needed to be paralysed and placed in a prone position. Subsequent chest X-rays showed progressive bilateral patchy infiltrates, raising suspicion for acute respiratory distress syndrome (ARDS). As a result, the patient was started on steroid therapy to manage the ARDS. Afterwards, on day 6, the patient was successfully extubated. While some behavioural concerns of agitation and nonsensical speech were observed, there was no evidence of other neurological dysfunction. She was transferred to the general medical floor and discharged to a psychiatric facility.",
"gender": "Female"
}
] |
PMC10705831
|
[
{
"age": 0,
"case_id": "PMC11140069_01",
"case_text": "The patient, born at term following an uncomplicated pregnancy, is the only daughter of healthy, non-consanguineous Japanese parents. There is no family history of hearing loss, renal insufficiency, presenile cataracts, or hematological disorders. Although she has had petechiae since infancy, she has not undergone any examinations. At the age of three years, thrombocytopenia was incidentally noted during a review for a generalized erythematous maculopapular rash. She was diagnosed with ITP and was subsequently followed up without treatment at a local hospital. At the request of the patient's family for an assessment of thrombocytopenia by pediatric hematologists, the patient was referred to our hospital.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC11140069_02",
"case_text": "Physical examination revealed no purpura on the legs, petechiae in the oral cavity, or hearing loss. Peripheral blood analysis revealed thrombocytopenia, with a platelet count of 53 x 109/L (normal range 150-400 x 109/L). White blood cell and erythrocyte counts were 9.8 x 109/L (normal range 4.0-15.0 x 109/L) and 4.85 x 1012/L (normal range 4.00-5.30 x 1012/L), respectively. Other laboratory data, including creatinine, blood urea nitrogen, liver profiles, prothrombin time, and partial thromboplastin time, were all within normal limits, with a creatinine level of 0.23 mg/dl (normal range 0.20-0.39 mg/dl), an alanine aminotransferase level of 9 U/L (normal range 9-30 U/L), and an aspartate aminotransferase level of 62 U/L (normal range 24-44 U/L). Urinalysis results were normal, with no evidence of hematuria or proteinuria. Audiometric and ophthalmological findings were normal. Examination of peripheral blood films (May-Grunwald-Giemsa stain) by light microscopy showed giant platelets and Dohle-like inclusions in neutrophils (Figures 1A,B). Immunofluorescence analysis (IFA) for the NMMHC-IIA revealed small aggregates (<0.7 microm), less than 11 in number, predicting mutations in motor domain of MYH9 gene (Figure 1C). Bone marrow examination revealed an increased number of megakaryocytes without dysplasia. The presence of macrothrombocytopenia and Dohle-like bodies in neutrophils suggested a molecular investigation of the suspected MYH9 mutations. The patient carried a previously described heterozygous transversion, c.130 G > C (p.Ala44Pro), in MYH9 exon 2, which was diagnosed as MYH9-RD. Family members were excluded if they refused to participate. The segregation analysis could not be performed because the other family members did not consent to genetic testing.\nNo treatment was administered as no bleeding complications were observed. She has been in good condition for the last six years following diagnosis, without progression of thrombocytopenia, hearing impairment, renal insufficiency, or cataracts.",
"gender": "Female"
}
] |
PMC11140069
|
[
{
"age": 34,
"case_id": "PMC10978038_01",
"case_text": "The patient was a 34-year-old pregnant woman who had diplopia since approximately 14 weeks of gestation, and she visited another hospital at 30 weeks of gestation because of repeated lightheadedness and loss of consciousness starting at approximately 26 weeks of gestation. She was referred to our department because head MRI revealed an intracranial neoplastic lesion. At the time of the visit, left gaze disorder and gait disturbance were observed. Her visual acuity and visual field were normal, but her right eye did not turn inward during left gaze, which was thought to be caused by impairment of the right medial longitudinal fasciculus (MLF syndrome). Head MRI revealed neoplastic lesions in two areas, with one lesion spanning from the septum pellucidum to the right anterior horn and the other spanning from the pons to the dorsal medulla oblongata, as well as cystic changes in some areas and hydrocephalus (Fig. 1). We strongly suspected primary central nervous system lymphoma based on the imaging findings, such as homogeneous tumor contrast on contrast-enhanced T1-weighted images and strong diffusion restriction on diffusion-weighted images. She was transferred to our department after cesarean section at approximately 34 weeks of gestation. The results of blood tests were as follows: sIL-2R, 431.0 U/mL; HCG-beta, 0.2 ng/mL; and AFP, 85.1 ng/mL. Although AFP levels were elevated, the data were obtained 8 days after cesarean section, and thus, it was considered a physiological event. We decided to perform a partial tumor resection rather than a biopsy to confirm the pathological diagnosis as well as to improve the hydrocephalus. Using a transcortical approach, the tumor near the right anterior horn and the tumor in the septum pellucidum were partially removed, and the right and left lateral ventricles were connected. In addition, the tumor near the foramen of Monro was also removed to improve hydrocephalus. Postoperatively, the hydrocephalus was resolved and the gait disturbance improved. Pathological analysis revealed dense proliferation of tumor cells with pale to moderately acidic sporocytes, a swollen nucleus with well-defined nucleoli, and a large infiltrate of small lymphocytes in the background. The lesions were immunohistochemically positive for c-kit, D2-40, and SALLA4, and a pathological diagnosis of germinoma was made (Fig. 2). The intraoperative spinal fluid cytology was class V in Papanicolaou classification. Three courses of ifosfamide, carboplatin, and etoposide (chemotherapy) combined with whole-brain irradiation (25.2 Gy in 14 fractions) led to complete elimination of the lesions and improvement of the MLF syndrome 3 weeks after the start of chemotherapy. After 18 months of follow-up, there was no evidence of recurrence. We have compiled a timeline chart of the patient's progress before and after surgery, which is shown in Figure 3.",
"gender": "Female"
}
] |
PMC10978038
|
[
{
"age": 56,
"case_id": "PMC11225520_01",
"case_text": "A 56-year-old male, Patient 1, presented to the emergency department with severe headaches persisting for the past 6 months. He described the headache as a heavy load pressing on his head, occurring intermittently up to 4 times a day, with each episode lasting approximately 1 h. The headaches had worsened over the past 2 weeks despite taking pain medication, which provided only temporary relief. In addition, the patient occasionally spoke incoherently during these headache episodes. No other associated symptoms, such as seizures, nausea, vomiting, weakness in the extremities, or sensory complaints were reported. The patient stated consuming medium-rare pork meat roughly 4 times a week. He had a history of hydrocephalus treated in 2001 with the insertion of a ventriculoperitoneal (VP) shunt at the right Kocher point.",
"gender": "Male"
},
{
"age": 54,
"case_id": "PMC11225520_02",
"case_text": "Patient 2, a 54-year-old male, arrived at the emergency department due to a sudden decrease in consciousness 12 hours before admission. Following the onset, he became drowsy and began speaking incoherently. The day before these symptoms developed, he experienced a high fever, which subsided after taking over-the-counter medication such as paracetamol. In addition, he had a history of chronic headaches for the past year, which had intensified over the past week. Similar to Patient 1, there were no other associated symptoms such as seizures, nausea, vomiting, weakness in the extremities, or sensory complaints. This patient consumed pork meat almost daily. He had a history of hydrocephalus treated in 2017 with the insertion of a VP shunt at the right Kocher point.\nOn physical examination, normal vital signs were noted, with a visual analog scale of 7 and a Karnofsky Performance Status (KPS) scale of 90. No abnormalities were detected on both physical and neurological examinations. Magnetic resonance imaging (MRI) in T1- and T2-weighted images revealed multiple loculated masses around the right lateral ventricle, third ventricle, and fourth ventricle [Figures 1a-d]. On the T2 sequence, multiple septae were observed inside the masses with a hyperintense feature, exhibiting the same intensity as cerebrospinal fluid (CSF). The masses displayed a thin layered wall and characteristic features resembling a cyst. In addition, dilation of both lateral, third, and fourth ventricles with periventricular edema suggestive of hydrocephalus was noted.\nThe patient's KPS scale was not recorded. During the physical examination, tachycardia was observed, with a heart rate of approximately 124 beats per minute, alongside an elevated body temperature of around 38.5 C. The patient's Glasgow coma scale (GCS) score was 12, with three for eye response, four for verbal response, and five for motor response. A positive meningeal sign was also noted. No other neurological abnormalities were identified in this patient. MRI in T1- and T2-weighted images revealed multiple masses concentrated around both sides of the lateral ventricle [Figures 2a-c]. On the T2 sequence, the masses exhibited a hyperintense feature, consistent with the intensity of CSF. These masses displayed a thin layered wall and characteristic features resembling a cyst. In addition, the masses were observed to obstruct both sides of the interventricular foramen, resulting in dilation of both lateral ventricles with periventricular edema suggestive of hydrocephalus.\nBased on the history, physical examination, and MRI findings, both patients were suspected to have developed intraventricular neurocysticercosis. Therefore, a microsurgical procedure was decided to resect the mass and obtain a histopathological specimen to confirm the diagnosis. We did not perform resection on the cyst in the fourth ventricle area in both patients due to the small size of the cyst and the limitations of the surgical window for cyst resection. We did not administer medical therapy using albendazole to these patients before the surgical procedure because both patients exhibited signs of increased intracranial pressure, necessitating immediate management through microsurgical cyst resection.\nBoth patients underwent the same surgical approach. The procedure was performed with the patients in the supine position, with the head elevated at 45 . A linear skin incision was made approximately along the coronal suture, perpendicular to the midline. Following the scalp incision, a craniotomy was executed, extending laterally by 4 cm to the right of the midline, with a total length of 5 cm, comprising 3 cm anteriorly and 2 cm posteriorly to the coronal suture. The final cut with the craniotome was made to connect the burr holes along the sinus (midline) to ensure rapid access to the sinus in case of inadvertent tearing. Bone drilling was performed with utmost caution to preserve the integrity of the superior sagittal sinus in the midline. On completion of the craniotomy, an interhemispheric approach was undertaken. Entry into the midline structures was achieved while meticulously preserving all bridging veins. On reaching the depth between the falx and medial gyrus, identification of the corpus callosum and both pericallosal arteries was conducted. A callosotomy of approximately 1.5 cm in length was performed. Following entry into the ventricle, all masses were identified and resected [Figures 3a-e]. Samples of the mass wall were collected and forwarded to the pathology anatomy laboratory for further histopathological examination. On resection of the masses, the dural flap was meticulously closed using a water-tight technique, followed by the closure of the bone flap. The scalp was sutured layer by layer. The surgical procedures for both patients lasted approximately 5-6 hours.\nBoth patients exhibited identical macroscopic and microscopic characteristics. The mass wall appeared white and thin and possessed a rubbery consistency. Microscopically, both specimens were characterized by a vesicular cyst wall and a reticular layer [Figures 4a-d]. The vesicular cyst wall consisted of three layers, arranged from outer to inner: the eosinophilic cuticular layer, a layer of smooth muscle fibers, and a cellular layer containing numerous small, uniform, and round nuclei. Within the reticular layer, excretory canaliculi containing fungal fibers were observed [Figures 4c and d]. Of significant note, both specimens contained larvae and some mummified dead larvae, consistent with the hallmark features of neurocysticercosis. Tissue specimens were stained with hematoxylin and eosin and examined at magnifications of x100 and x400.\nBoth patients exhibited a favorable response to the surgical procedure postoperatively. Based on the histopathological results, the patients were diagnosed with intraventricular neurocysticercosis and prescribed cysticidal drugs such as albendazole for 30 days. Patient 1 was discharged on the 4th postoperative day and Patient 2 on the 5th postoperative day. Patient 2 regained consciousness with a discharge GCS of 15, and both patients experienced relief from symptoms of headache. Patient 1 resided in a relatively remote area from our facility, making it impractical to conduct a repeat MRI, and follow-up could only be conducted through telephone. The patient remained in good condition without any limitations in performing daily activities. Patient 2 underwent a repeat MRI examination 1 year later, revealing recurrence of cysts in the lateral ventricle area. The patient exhibited low compliance with cysticidal therapy. During follow-up, there was no worsening of neurological conditions, and the patient was able to carry out daily activities without assistance.",
"gender": "Male"
}
] |
PMC11225520
|
[
{
"age": 61,
"case_id": "PMC10573425_01",
"case_text": "A 61-year-old woman was discharged from the hospital the next morning after an orthopedic surgery on her left leg and was recommended to take oral nimesulide and rivaroxaban 10 mg/p. At home, the patient ingested nimesulide and then after half an hour she ingested rivaroxaban; 10-15 minutes after the ingestion of rivaroxaban, the patient developed shortness of breath, her palms started itching, face and lips swelled up, face flushed, and she consequently lost consciousness. During suspected anaphylactic shock, paramedics administered intramuscular adrenaline 1 mg, intramuscular clemastine 1 mg, intravenous dexamethasone 4 mg, and NaCl 0.9% 500mL, as well as oxygen therapy 5 L/min.\nAt the hospital, a clinical examination was performed, and intravenous fluids (Ringer's solution 500 mL) and dexamethasone 4 mg were administered. The patient's blood pressure (BP) was 118/76 mmHg, and pulse rate - 70 times/min. At the time of the anaphylactic reaction serum tryptase level was 30.6 mug/l (normal range 1-15 mug/l).\nOne month later, the patient was examined in an outpatient allergy clinic. The anamnesis was obtained in compliance with the European Allergy and Clinical Immunology organization (EAACI) drug allergy questionnaire. Previously, the patient had experienced mild allergic reactions in response to rivaroxaban ingestion, such as mild urticaria, mild swelling and itchiness of lips. The latter two have developed after ingestion of rivaroxaban in combination with an antacid drug. She was then treated with clemastine and her symptoms disappeared within a day. No hypersensitivity to non-steroidal anti-inflammatory drugs (NSAIDs) was identified in the medical history. Furthermore, the patient has previously taken nimesulide, with no reported adverse drug reactions (ADRs). Additionally, no food allergy was identified in the medical history.\nThe serum tryptase level at the time of the allergist's consultation one month after the anaphylaxis was found to be normal - 5.46 mug/l. The patient did not consent to provocation tests with rivaroxaban and nimesulide to confirm allergy during the allergist's consultation; therefore, the diagnosis of hypersensitivity to rivaroxaban was based on two previous allergic episodes and elevation of tryptase levels. Two separate provocation tests with alternative drugs meloxicam and dabigatran were performed. These drugs were identified to be safe.\nBesides this, the patient has had rhinitis with a persistent runny nose for several years and allergic rhinitis was, thus, suspected. Because of that, for the diagnostic purpose, skin prick tests and molecular allergy diagnostic tests were performed and returned negative. Therefore, diagnosis of allergic rhinitis was ruled out.",
"gender": "Female"
}
] |
PMC10573425
|
[
{
"age": 58,
"case_id": "PMC10997416_01",
"case_text": "A 58-year-old male with a background of 1.91 mm melanoma, excised six years previously from his upper back, was referred urgently to oncology with a new biopsy-proven metastatic melanoma in his axilla.\nHis past medical history includes a vestibular tumour treated with stereotactic radiotherapy, hypertension, and depression. His Eastern Cooperative Oncology Group (ECOG) performance status was zero, and he was a nonsmoker and led an active lifestyle.\nA computerised tomography chest, abdomen, and pelvis (CT CAP) scan confirmed left supraclavicular and large left axillary lymph nodes, nodules adjacent to pleura in both lower lobes as well as an additional left lower pulmonary nodule.\nThe patient commenced treatment with 350 mg ipilimumab and 110 mg nivolumab. He was admitted to the hospital 10 days following the first cycle of treatment with palpitations, chest pain, and diplopia. An electrocardiogram (ECG) revealed left axis deviation and right bundle branch block. His blood results showed a creatine kinase (CK) 11,150 IU/L (normal range 40-320 IU/L), troponin-T 1051 ng/L (normal range <14 ng/L), ALT 415 U/L (normal range <41 U/L), and bilirubin 11 umol/L (normal range 0-29 umol/L). He was commenced on 100 mg once daily (OD) of intravenous (IV) methylprednisolone for probable ICI-related overlap syndrome and hepatitis. Twenty-four hours later, the patient developed a complete heart block and required temporary pacing and insertion of an externalised permanent single lead pacemaker. Mycophenolate mofetil (MMF) 1000 mg twice daily (BD) was added, and methylprednisolone was increased to 1000 mg OD due to worsening troponin-T (Table 1). The patient was transferred to a specialist cardio-oncology centre. Coronary angiogram revealed no flow-limiting lesions; however, endomyocardial biopsies revealed several small foci of lymphocytic inflammation. The patient's myocarditis, myositis, and hepatitis improved with immunosuppression; however, his diplopia worsened and he developed type 2 respiratory failure, requiring noninvasive ventilation, as well as bulbar symptoms including difficulty swallowing, requiring nasogastric (NG) feeding. Symptoms did not respond to methylprednisolone and intravenous immunoglobulins (IVIG) but improved with plasmapheresis and definitively with rituximab. Following a three-month stay in the hospital, including one month in the ICU, the patient was discharged with neurology, cardiology, and oncology follow-up.",
"gender": "Male"
},
{
"age": 78,
"case_id": "PMC10997416_02",
"case_text": "A 78-year-old gentleman with a background of grade 3 metastatic bladder cancer was referred to oncology. His latest CT urogram and CT CAP revealed a large bladder tumour arising from the right lateral wall with extravesical extension and multiple enlarged retroperitoneal and right pelvic side wall lymph nodes.\nThe patient had no significant past medical history. He had a BMI of 42 and an ECOG performance status of one. He was a retired pension fund investment manager and nonsmoker.\nThe patient was commenced on palliative chemotherapy with a combination of gemcitabine and carboplatin for six cycles. Staging CT scans throughout treatment showed favourable responses with no evidence of disease progression. The patient was hence commenced on maintenance immunotherapy with avelumab.\nFollowing two cycles of 800 mg avelumab, each two weeks apart, the patient was admitted to the emergency department (ED) with extreme fatigue, unable to hold his head up after two minutes, and diplopia. His blood results revealed a CK > 8500 IU/L (normal range 40-320 IU/L) and troponin-T > 700 ng/L (normal range <14 ng/L). ECG showed normal sinus rhythm. To aid a diagnosis of myocarditis, troponin-I was also tested with a result of 151 ng/L (normal range 0-34). The patient was deemed to have ICI-induced myositis, myocarditis, and MG (later confirmed with positive antiacetylcholine receptor (anti-AChR) antibodies (0.47 nmol/L, normal range 0-0.25 nmol/L)). The patient was cautiously given 1000 mg IV methylprednisolone OD, being careful to monitor for decompensated MG crisis, to prevent a potentially fatal myocarditis. Pyridostigmine was initially avoided due to coexisting myocarditis and the risk of conduction defects. The patient developed tachypnoea with a respiratory rate of 40 per minute and forced vital capacity of 1.06 L (normal range 3-5 L). The patient was transferred to the intensive care unit (ICU), and IVIG was commenced. He was also commenced on pyridostigmine at a reduced dose of 30 mg three times per day (TDS) to lessen the risk of requiring intubation from MG. MMF 500 mg TDS was commenced due to a rapid rise of troponin-T to 1038 ng/L despite immunosuppression. The patient's symptoms improved, and he was successfully weaned from noninvasive ventilation and stepped down to the ward. He made a good recovery and was discharged with neurology, cardiology, and oncology follow-up, six weeks after first being admitted to the hospital.",
"gender": "Male"
},
{
"age": 77,
"case_id": "PMC10997416_03",
"case_text": "A 77-year-old gentleman with a background of grade 3 T4N0M0 left clear cell renal cell carcinoma was referred to oncology following a CT CAP confirming disease progression in the peritoneal nodules and lung metastases. He had a past medical history of chronic pancreatitis and hypertension. His ECOG performance status was zero and was a nonsmoker. The patient was commenced on first line 50 mg OD sunitinib, an oral TKI (tyrosine kinase inhibitor) achieving an excellent partial response. However, a CT CAP two years later revealed pancreatic metastases, new thoracic lymphadenopathy, and an increase in pulmonary metastases, right pleural, and peritoneal disease. The patient was, therefore, commenced on a second line 480 mg nivolumab.\nFollowing two cycles of nivolumab, the patient developed dysphagia, dysphonia, and ptosis. CTs neck and head did not reveal any obvious morphological cause. Following review from the neurology team, the patient was deemed to have MG, although notably anti-AChR antibodies were negative. An NG was inserted due to the patient having an unsafe swallow. The patient also developed chest pain with ECG showing dynamic anterolateral T-wave inversion and ST depression with a significant troponin-T rise to 1786 ng/L (normal range <14 ng/L). It was felt that this could represent a lateral NSTEMI or myocarditis secondary to nivolumab. CK was 3217 IU/L (normal range 40-320 IU/L). The patient was diagnosed with overlap syndrome and commenced on IVIG, 130 mg IV (2 mg/kg) methylprednisolone OD, and 60 mg pyridostigmine six times per day. An angiogram was deemed not appropriate due to the increased risk of coronary vasospasm-induced ischaemia from possible myocarditis. The patient developed respiratory failure, appeared fatigued, and was cachexic. It was discussed with his next of kin that escalation of care with intubation and ventilation would not be in the patient's best interests. The patient deteriorated from a respiratory point of view despite a high-flow oxygen and subsequently passed away, three weeks after initially being admitted to hospital.",
"gender": "Male"
},
{
"age": 86,
"case_id": "PMC10997416_04",
"case_text": "An 86-year-old gentleman with a background of pT4aN0N0 mucosal melanoma was referred to oncology for adjuvant radiotherapy following a medial maxillectomy. He had a past medical history of hypertension, type 2 diabetes mellitus, osteoporosis, cervical spondylosis, prostate cancer on leuprorelin, and a myocardial infarction 24 years previously. He was of ECOG performance status zero and a nonsmoker.\nThe patient underwent radiotherapy treatment 55 Gray in 20 fractions over 4 weeks to his nose. A nuclear medicine whole-body positron emission tomography (PET) CT three-month postradiotherapy revealed an interval left adrenal metastatic deposit and a small deposit in the left anterior chest wall. Following discussions in the multidisciplinary team meeting, the patient was deemed not to be a candidate for surgery due to comorbidities. The patient would not be a candidate for stereotactic ablative body radiotherapy (SABR) because of the short interval in which metastatic disease developed with likely micrometastatic disease. The patient was, therefore, commenced on first line palliative 200 mg pembrolizumab. He was admitted to the ED two weeks after his first cycle with increasing tiredness, diplopia, and slurred speech. His blood results revealed CK 6185 IU/L (normal range 40-320 IU/L), troponin-T 6188 ng/L (normal range <14 ng/L), ALT 882 U/L (normal range <41 U/L), and bilirubin 8 umol/L (normal range 0-29 umol/L). The patient was deemed to have ICI-related MG (later confirmed with positive anti-AChR antibodies (6.48 nmol/L, normal range 0-0.25 nmol/L)), myocarditis, myositis, and hepatitis. He was commenced on IV methylprednisolone 100 mg (2 mg/kg) OD. The following day, he developed a complete atrioventricular (AV) block on his ECG with left bundle branch block and some long pauses of >10 s (Figure 1). He underwent an urgent insertion of a pacemaker, and IV methylprednisolone was escalated to 500 mg IV OD. His neurological symptoms deteriorated, including his inability to swallow, and he was, therefore, commenced on IVIG and 0.5 mg intramuscular neostigmine TDS. The patient was deemed not to be suitable for ICU and not for intubation and ventilation due to his frailty and comorbidities. Unfortunately, the patient's health continued to deteriorate, requiring 15 litres of high-flow oxygen to maintain oxygen saturations above 90%, and he subsequently passed away, two days after being admitted to hospital.",
"gender": "Male"
}
] |
PMC10997416
|
[
{
"age": 83,
"case_id": "PMC11390419_01",
"case_text": "In August 2023, an 83-year-old Belgian man presented at Erasme tertiary hospital in Brussels with fever and functional impairment of his right knee. The medical history revealed that 3 days prior to admission, the patient's left index finger was inflamed and painful. The following day, he noticed spontaneous improvement in his left hand but experienced pain in his right knee, even though he had no history of either knee trauma or pain. On the 3rd day, he developed a fever of 39 C with chills, his knee had become swollen and the pain worsened to the point where he could not walk, prompting him to go to the hospital.\nPhysical examination showed a swollen and very painful knee. In contrast, the finger joint displayed redness and warmth but with only mild pain and swelling. The patient had a recorded fever of 38.2 C. When questioned, he denied any recent travel abroad, walking in the forest, or insect bites. The patient had several underlying medical conditions, including hormone replacement therapy for Hashimoto's thyroiditis, Biermer's anemia, and was treated for hypertension. In 2012, he underwent prosthetic aortic replacement.\nLeft hand and right knee X-rays revealed moderate rhizarthrosis in the hand and severe knee osteoarthritis with intra-articular effusion. Initial blood tests showed moderate acute kidney failure, with a creatinine clearance calculated with the CKD-EPI equation of 43 mL/min/1.73 m2 (normal range: >=90 mL/min/1.73 m2) and a biological inflammatory response, including an increased white blood cell count (WBC; 10, 860 cells/mm3) with 79% neutrophils and elevated C-reactive protein (CRP; 200 mg/L). Before the initiation of antibiotics, two sets of blood cultures were collected and incubated using the BD BACTEC FX blood culture system (Becton, Dickinson and Company, USA). Additionally, fluid was aspirated from the right knee joint and inoculated in a BD BACTEC Peds Plus bottle. The cell count of this fluid revealed a high WBC count (178, 816/mm3) with a predominance of neutrophils (89%) and 4, 200 red blood cells (RBC)/mm3. The fluid total protein level was elevated (38 g/L). No crystals were detected and the uric acid fluid level was within the normal range (59 mg/L). Empirical antibiotic therapy with ceftriaxone (2 g twice daily) and flucloxacillin (2 g every 4 h), was promptly initiated. An arthroscopic washout procedure was performed and a second sample of joint fluid was collected that was consistent with the first one (88, 704 WBC/mm3, 91% neutrophils, 28, 200 RBC/mm3, no germ or crystal were observed by direct examination). The culture was initiated using sheep blood agar (BD Columbia Agar with 5% Sheep Blood, BD), chocolate agar (Chocolate PolyViteX agar, Biomerieux), and Schaedler broth (BBL Schaedler Broth with Vitamin K1, BD) incubated at 35 C with 5% CO2, and a BD BACTEC Peds Plus bottle.\nAfter 29 h of incubation, growth was detected in the BD BACTEC Peds Plus bottle containing the joint fluid that was initially sampled at the emergency department. The Gram-stained smear revealed pleomorphic and irregular Gram-negative rods (Figure 1). Subsequent subcultures on blood and chocolate agars plus Schaedler broth were performed.\nOn the third day, the patient reported feeling more comfortable. His knee was less inflamed and less painful, while his hands showed nothing remarkable. An infectious disease specialist was consulted leading to the discontinuation of flucloxacillin. Upon further inquiry by the specialist, the patient recalled being bitten on the right hand by a rat brought home by his cat approximately 10 days before the onset of his symptoms. In the meantime, weak growth was observed on the blood agar plate corresponding to the subculture from the bottle that had been positive the day before. This growth evolved, developing small, pale gray, shiny, round-shaped non-hemolytic colonies after 48 h of incubation (Figure 2). The microorganism was identified as S. moniliformis with a score > 2.3 using matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS; Biotyper Sirius IVD version 4.2.100; Bruker Daltonics, Germany). Furthermore, a 1421 bp PCR sequencing (GenBank accession no. PP350726.1) of the 16S rRNA gene on the isolate confirmed the identification of the species. The genetic sequence exhibited a 100% match with S. moniliformis DSM12112T (GenBank accession no. CP001779) but only a 98.59% match with S. notomytis AHL_370-1T (GenBank accession no. KR001919) and < 98% identity to other Streptobacillus species in the EzBioCloud 16S database (http://www.ezbiocloud.net/eztaxon). Cultures on chocolate agar plates, blood cultures and the culture of the second knee fluid remained sterile. Similarly, attempts to conduct antimicrobial susceptibility testing by strain subculture on Mueller Hinton agar with 5% horse blood and 20 mg/L ss-NAD did not yield any results. However, the strain subculture in Schaedler broth displayed the characteristic \"puffball\" growth pattern associated with S. moniliformis (Figure 3).\nWith the patient showing significant clinical improvement by the 9th day, ceftriaxone was replaced with penicillin G at a dosage of 4 million international units every 6 h. After 2 weeks of intravenous antibiotic therapy, the patient had fully regained the range of motion in his knee which no longer caused him pain. Consequently, he was discharged from the hospital with oral doxycycline (200 mg/day) for four supplementary weeks. The patient was observed at the end of antibiotic treatment to have a sustained complete recovery. Figure 4 shows a timeline of relevant data from the episode of care.",
"gender": "Male"
}
] |
PMC11390419
|
[
{
"age": 49,
"case_id": "PMC10799215_01",
"case_text": "Here, we present a 49-year-old female patient with a history of Crohn's disease (CD) and axial spondyloarthritis, who developed symptoms of myopathy 1 week after dose increase with upadacitinib from 30 to 45 mg once daily (QD). Laboratory investigation revealed an elevated creatine phosphokinase (CPK) serum concentration and a low hemoglobin level. Symptoms resolved and CPK levels normalized 2 weeks after discontinuation of upadacitinib. Treatment with upadacitinib was restarted at a dose of 15 mg QD, which was effective and could be continued safely without side effects. Follow-up laboratory investigations showed normal CPK levels.",
"gender": "Female"
},
{
"age": 49,
"case_id": "PMC10799215_02",
"case_text": "A 49 year-old female patient with a medical history of axial spondyloarthritis and ileocolonic CD failed prior treatment for CD with azathioprine, mercaptopurine, methotrexate, infliximab, adalimumab, certolizumab, ustekinumab and vedolizumab. In 2006, she underwent a laparoscopic ileocecal resection due to a perforation of the terminal ileum. In 2016, a colonoscopy revealed recurrence of CD in the neo-terminal ileum (modified Rutgeerts score: i3), after which combination treatment was started with vedolizumab and infliximab. In 2019, the vedolizumab infusion interval was shortened from every 8 to every 6 weeks, combined with a course of prednisone due to endoscopically confirmed active CD in the neo-terminal ileum. In 2020, patient underwent a re-resection of the neo-terminal ileum, followed by maintenance treatment with infliximab and methotrexate. A follow-up colonoscopy 6 months after surgery showed recurrence of CD in the neo-terminal ileum (modified Rutgeerts score: i2b). In October 2022, treatment with upadacitinib was started at a dose of 15 mg QD by the rheumatologist according to the label. A favorable clinical response of axial spondyloarthritis-related complaints was seen, but CD-related symptoms persisted. The dose was increased to 30 mg QD, which was continued for a few months. In May 2023, the patient increased the upadacitinib dose to 45 mg QD on her own initiative because of progressive CD-related complaints. After 1 week, she presented herself at our out-patient clinic with muscle stiffness and cramps of the proximal legs, fitting with symptoms of myopathy. Laboratory investigation revealed an elevated CPK serum concentration (271 U/L), a mildly elevated alanine transaminase (ALT) level (68 U/L), and a slightly decreased hemoglobin count (7.1 mmoL/L). Leukocyte and thrombocyte counts, electrolytes (including magnesium and potassium) and fecal calprotectin levels were normal. Under the suspicion of upadacitinib-induced symptomatic myopathy, treatment with upadacitinib was discontinued. Within 2 weeks, the CPK serum concentration normalized, the ALT level improved and symptoms of myalgia disappeared. Treatment with upadacitinib was restarted at the lowest effective dose of 15 mg QD. Up till now, the patient is in clinical and biochemical remission tolerating 15 mg QD upadacitinib, requiring no changes in medical treatment.",
"gender": "Female"
}
] |
PMC10799215
|
[
{
"age": 38,
"case_id": "PMC10505429_01",
"case_text": "In July 2021, a 38-year-old man presented to our Nephrology Division with generalized edema that had started a few weeks before.\nHis clinical history was unremarkable except for childhood epilepsy. Upon admission, a physical examination revealed anasarca and hypertension. Laboratory investigations revealed mild renal dysfunction with a serum creatinine level of 1.2 mg/dL, corresponding to an estimated glomerular filtration rate (eGFR) of 76 mL/min, with moderate hyperkalemia 5.8 mEq/L. Urinalysis revealed microscopic hematuria at 400/muL and proteinuria of 5 g/24 h with 0.10 g/24 h of Bence Jones at urine protein electrophoresis (UPEP). Serum protein electrophoresis (SPEP) showed low gamma globulin levels of 5 g/L (normal range 8-17 g/L) associated with a monoclonal IgG lambda spike (2.5 g/L). Serum free light chain (FLC) test revealed 34.3 mg/L and 56 mg/L of kappa and lambda, respectively, with a normal ratio of 0.6 (normal range: 0.3-1.56).\nOther laboratory tests showed low levels of C3 (0.37 g/L, normal range 0.9-1.8) and C4 (0.08 g/L, normal range 0.1-0.4) levels, Hb 14.9 g/dL, calcium 8.4 mg/dL, total cholesterol 214 mg/dL, NT-proBNP of 1050 ng/L.\nHepatic viral markers, autoimmunity, rheumatic factor, and cryoglobulins were all negative.\nA percutaneous renal biopsy was then performed. The histological exam revealed a renal cortex with 14 glomeruli, including two globally sclerosed. All the remaining glomeruli were lobulated with severe hypercellularity, both mesangial and endocapillary, and numerous double contours of the glomerular membranes. Immunofluorescence revealed diffuse bright C3 staining (3+) without other positive immune reactants and masked deposits on pronase-digested tissue. Electron microscopy confirmed the presence of subendothelial electron-dense deposits, indicative of a diagnosis of C3GN (Figure 1A).\nTo further complete the diagnosis workup, comprehensive alternative complement system genetic (C3, CD46, THBD, DGKE, CFHR1, CFHR3 e CFHR5) and serological evaluations (C3Nef, anti-H antibodies, soluble C5b9 levels) were performed. All these tests were negative, except for slightly elevated soluble C5b9 levels (309 ng/mL, normal range 140-280 ng/mL). Due to the presence of a monoclonal component at SPEP, a bone marrow biopsy was also done: no tumor infiltration was detected, but cytofluorometric analysis revealed a population of CD138 positive plasma cells with irregular phenotype, accounting for 0.1% of cells, together with polytypic B-lymphocytes and plasma cells. FISH analyses on selected CD138-positive cells did not detect any chromosomal aberration. Finally, spine MRI and positron emission tomography-computed tomography showed no evidence of abnormalities. Overall, the data allowed to diagnose C3G-MC in the context of MGRS. Thus, in November 2021, the patient started an anti-MM-like treatment: the CyBorD schedule (Velcade 1.5 mg/mq, Cyclophosphamide 300 mg/m2, and dexamethasone 40 mg given on days 1-8-15-22). At that time, creatinine level was 2 mg/dL, associated with nephrotic range proteinuria 9.4 g/die; SPEP and UPEP analyses were like those performed at diagnosis. Unfortunately, treatment was discontinued early (at the second cycle) due to grade 3 neuropathy, resulting in seizures, hypertension, headache, lethargy, confusion, and blindness.\nAfter treatment withdrawal, the patient showed a progressive worsening of renal function. Indeed, serum creatinine ranged from 2.7 to 3.1 mg/dL in November and December, respectively. In February 2022, the patient was admitted to the emergency department for dyspnea and edema. Laboratory investigations showed serum creatinine of 7.7 mg/dL, eGFR 8 mL/min with hyperkalemia 5.5 mEq/L, low C3 0.6 g/L, normal C4, severe nephrotic proteinuria (7.6 g/24 h) and microscopic hematuria (500/muL). SPEP confirmed hypogammaglobulin levels (6 g/L) together with monoclonal IgG lambda spike (3.4 g/L); serum FLC ratio was still normal (0.61). Due to the severity of the illness, intermittent hemodialysis (HD) was initiated, and a second kidney biopsy was performed to assess kidney damage severity.\nThe second kidney biopsy confirmed the previous findings, with the addition of some extracapillary cellular proliferation forming crescents. The tubulo-interstitium showed mostly acute findings, with diffuse simplification of the tubular epithelium and severe interstitial lymphocytic inflammation: the overall degree of tubular atrophy and interstitial scarring was mild. Considering the persistence of active lesions with only mild chronicity, in March 2022, the patient underwent a second-line treatment with Methylprednisolone and cyclophosphamide at the dose of 12 mg/kg, according to the KDIGO guidelines for rapidly progressive glomerulonephritis.\nThe first infusion was well-tolerated, and the patient continued therapy with cyclophosphamide and maintenance thrice-weekly HD.\nApproximately 1 month later, with the prospect of prescribing a second-line clone-directed therapy, hematologists opted for a second bone marrow biopsy. This examination revealed the presence of monoclonal plasma cells ranging from 5 to 10% of cells with normal hematopoietic cells without significant maturation delay. Remarkably, a reactive infiltrate of lymphocytes was observed. Thus, considering the histological evidence of a plasma cellular clone infiltration, the treatment was shifted to an anti-CD38 MoAb-based strategy. So, in May 2022 patient started daratumumab-lenalidomide-dexamethasone (D-RD, 4-week cycle regimen). The treatment was well-tolerated, yielding a progressive recovery of renal function, increased diuresis, reduced intradialytic weight gain, and improved pre-dialysis examination results. During this period, C3 levels remained consistently low, while C4 levels maintained normal.\nRegrettably, in November 2022, at the 7th cycle of therapy, pneumonia occurred, and treatment was interrupted. Afterward, therapy was resumed, but it was switched to single agent daratumumab as maintenance. In the following few months, HD frequency progressively reduced till December 2022, when it was interrupted (10 months after HD initiation and 7 months after the daratumumab starting date). At that time, the patient was clinically euvolemic, with a serum creatinine level of 3.1 mg/dL and proteinuria of 4 g/24 h. On February 2023, while the patient's renal function was stable and the monoclonal component reduced to 1.1 from 3.5 g/L, a third kidney biopsy was performed (Figure 1B).\nSimilar to the previous examinations, this biopsy demonstrated that the glomeruli retained a lobulated appearance with a membranoproliferative pattern, albeit with less hypercellularity and increased mesangial matrix deposition, presenting as a vague nodular pattern. The degree of inflammation and acute tubular injury had diminished, though the overall level of interstitial scarring remained mild. Immunofluorescence analysis once again revealed intense bright staining for C3 as the sole immunoreactant. Electron microscopy confirmed the presence of powdery electron-dense deposits along the glomerular membranes, though these deposits were more segmental compared to the prior two biopsies.\nBased on a comprehensive assessment of the patient's clinical and histological features of active disease, in consultation with the hematologist, we decided to continue the treatment. By April 2023, after the completion of the 14th treatment cycle, the patient's renal function had stabilized, with a creatinine level of 3.2 mg/dL, proteinuria of 2.5 g/24 h, and slightly low C3 levels (0.82 g/L) and normal C4 (0.28 g/L). The monoclonal component remained at 1.5 g/L. The patient continued maintenance therapy with monthly administration of daratumumab as a single agent (Figure 2).",
"gender": "Male"
}
] |
PMC10505429
|
[
{
"age": 40,
"case_id": "PMC11418105_01",
"case_text": "A 40-year-old Caucasian female was diagnosed with a pT4bN1aM0 BRAFV600wild-type cutaneous nodular melanoma on the left shoulder. During adjuvant pembrolizumab treatment, a solitary subcutaneous metastasis was resected and irradiated. One year after diagnosis, [18F]-fluorodeoxyglucose-positron emission tomography computed tomography ([18F]FDG-PET/CT) revealed supra- and infradiaphragmatic lymph node and bone metastases. Treatment with ipilimumab/nivolumab was initiated. She developed immune-related colitis after two cycles and progressed with seven new brain metastases (AJCC stage IV-1Md) (Figure 1A). Comprehensive genomic profiling through next generation sequencing (NGS) revealed a clonal class-2 RAF-regulated MAP2K1 mutation (Q58_E62del, allele frequency 37%, in-frame-deletion; the complete NGS results can be found in Table 1). The patient initiated trametinib 2 mg once and dabrafenib 50 mg twice daily in the TraMel-WT trial in September 2022. Low-dose dabrafenib was associated upfront to mitigate skin-toxicity. She did not receive any local intracranial therapy at this time for the brain metastases. After 5 weeks, brain MRI revealed no new lesions and baseline lesions were considered stable according to RANO-BM criteria. Response assessment in week 7 with [18F]FDG-PET/CT showed complete metabolic response of extracranial lesions (Figure 1B). After 14 weeks of treatment, brain MRI indicated complete regression of five brain metastases. However, there was one new lesion (6 mm longest diameter) and an increased diameter of two preexisting metastases (Figure 1C). At the patient's request, close surveillance rather than immediate radiotherapy was applied while continuing trametinib and dabrafenib. Following confirmed progression in these three lesions nearly 2 months later, they were treated with stereotactic radiosurgery (1 x 20 Gy) (Figure 1D). A follow-up MRI (week 32) showed decrease in all three lesions and no new lesions. After 66 weeks of treatment, the patient remained in complete metabolic remission extracranially (Figure 1E). The week-59 brain MRI confirmed a continuing decrease in diameter of one of the irradiated lesions, and complete regression of the others (Figure 1E).\nTreatment was well tolerated. She intermittently reported low-grade nausea, pruritus, epigastric pain and fatigue, but did not experience skin-toxicity. No dose reductions of trametinib or dabrafenib were required.\nWhile extra- and intracranial responses persisted, the week-59 brain MRI revealed signs of focal post-radiation necrosis of the brain (fRNB) approximately 8 months after SRS for the lesion in the paramedian frontal right region (Figure 2A). A brain MRI, repeated 6 weeks later, showed increase in contrast-enhancement and size of the region (Figure 2B), which was associated with headaches. In order to differentiate between fRNB and tumor progression, an [18F]FDG-PET/CT of the brain was performed and demonstrated focal hypometabolism at the region of the gadolinium-contrast-enhancement, supporting the diagnosis of fRNB. A low-dose bevacizumab treatment regimen (previously established as effective treatment for fRNB) was initiated to treat the perilesional edema (Figure 2C). After two doses of bevacizumab (8 weeks) the headache subsided and MRI showed an important decrease in contrast-enhancement and edema (Figure 2D).\nAt the moment of writing, after 88 weeks of treatment, the patient continues to have a radiological response and remains on treatment (trametinib with low-dose dabrafenib and bevacizumab), while maintaining an active lifestyle.",
"gender": "Female"
}
] |
PMC11418105
|
[
{
"age": 61,
"case_id": "PMC10762310_01",
"case_text": "A 61-year-old man was admitted to the hospital following the discovery of liver lesions during a chest computed tomography (CT) examination, which had been performed due to chest discomfort 4 days prior. He had no history of hypertension, diabetes, hepatitis, tumors, trauma, or prior surgery. His family also denied any history of tumors or genetic problems; physical examination revealed no positive signs. Laboratory examination showed that except for a slight elevation of total bilirubin (37.5 mumol/L, normal: 5-21 mumol/L) and direct bilirubin (7.9 mumol/L, normal: 0-3.4 mumol/L), other laboratory indicators including blood routine and serum tumor markers of digestive system were within the normal reference value range. CT examination revealed a mixed density nodule approximately 2.0 cm x 1.8 cm in size in the medial segment of the left hepatic lobe. On magnetic resonance imaging (MRI as shown in Figure 1), the lesion presented uneven short T1 and long T2 signals, with a clear \"fast in and fast out\" appearance on contrast-enhanced scans. Based on these imaging findings, the patient was initially suspected of hepatocellular carcinoma. To determine the best course of treatment, the patient underwent a positron emission tomography (PET)/CT examination (PET/CT imaging presented in Figure 2), which revealed increased fluorine-18 fluorodeoxyglucose (18F-FDG) uptake in the lesion, while no significant abnormal radioactive uptake was observed throughout the rest of the body. Subsequently, the patient underwent surgical resection of the lesion under general anesthesia. The excised tumor tissue was sent for histopathological examination; under a microscope, it showed a grayish-red color. The tumor cells as shown in Figure 3 were composed of epithelioid cells rich in transparent cytoplasm and eosinophilic granules. Immunohistochemistry showed that the tumor cells positively expressed HMB45, melan-A, smooth muscle actin (SMA), and calponin. However, they were negative for hepatocyte, microphthalmia-associated transcription factor (MITF), anaplastic lymphoma kinase (ALK), S100, and Ki-67, with a positive index of approximately 10%. Based on the pathological and immunohistochemical results, the patient was diagnosed with hepatic PEComa. The patient was discharged 5 days after receiving antiinflammatory treatment following surgery. To date, the patient has been followed-up for 14 months, and showed no evidence of recurrence.",
"gender": "Male"
}
] |
PMC10762310
|
[
{
"age": 33,
"case_id": "PMC11135111_01",
"case_text": "A 33-year-old female with a medical history of asthma and depression presented to the emergency department with a 3-day history of shortness of breath. She reported her shortness of breath occurred at rest and was worse with exertion. She had a cough productive of yellow sputum and a fever of 105 Fahrenheit at home. She reported nausea, vomiting, and anorexia. She denied recent infections, travel, or sick contact. On presentation, her vital signs were as follows: temperature of 98.8 Fahrenheit, heart rate of 117 beats per minute (bpm), blood pressure 86/43 millimeters of mercury (mmHg), respiratory rate of 20 per minute, and oxygen saturation of 97% on 2 l via a nasal cannula. Physical examination at the time of admission revealed a well-developed female patient who was not in any distress. Her oropharynx appeared non-erythematous, and her neck was supple, without cervical lymphadenopathy. She was tachypneic and had crackles in the right posterior lung field, without wheezing. She was tachycardic without murmurs, rubs, or gallops. No rashes or skin lesions were observed. She was neurologically intact.\nInitial laboratory results showed an elevated white blood cell count of 28,900/microL, with 83% neutrophils and 7% bands. Her hemoglobin was 12.5 milligrams/dL, and her platelet count was 375,000 platelets per microliter (mcL). The results of the comprehensive metabolic panel were unremarkable. Other laboratory values included a lactic acid of 3.1 mmol/L, an arterial blood gas significant for a pH of 7.4, PaCO2 of 38 mmHg, PaO2 of 98.0 mmHg, and bicarbonate of 24 milliequivalents per liter (mEq/L). Influenza A and B and COVID-19 were all negative. Chest radiography on admission revealed dense consolidation in the right upper lobe (Figure 1).\nChest computed tomography angiography confirmed severe dense consolidation involving the entire right upper lobe with air bronchograms and patchy consolidations in the right middle and lower lobes (Figure 2). Sepsis protocol was initiated, with fluid resuscitation and norepinephrine infusion. Vancomycin, cefepime, and azithromycin were chosen for empiric coverage. The patient was admitted to the ICU.\nOver the next 4 days, respiratory failure continued to worsen, with persistent leukocytosis. Blood and sputum cultures and urine Legionella antigen were negative. The urine streptococcal antigen test result was positive, confirming a diagnosis of streptococcal pneumonia. A repeat chest radiograph on day 5 showed worsening dense right-sided pneumonia and contralateral consolidation in the left lower lung fields, suggesting worsening pneumonia (Figure 3). She was intubated with mechanical ventilation on a lung-protective strategy in a prone position due to persistent hypoxia. Sedatives, paralytics, and analgesic medications were administered. A bronchoscopy was performed at the bedside to evaluate the worsening clinical state, which showed inflamed mucosa without purulence, lesions, or blood. Bronchoalveolar lavage (BAL) tissue was sent for pathology for routine bacterial culture, fungal staining, and acid-fast bacilli (AFB) staining, which were all negative. The intranuclear inclusions BAL fluid or tissue biopsy were not sent. The HIV test was negative. 2D echocardiogram showed ejection fraction of 55%-60% without any other valve pathology or pericardial effusion. Patient remained in intensive care unit for worsening clinical status and persistent hypoxia. On day 8 of admission, a repeat chest radiograph showed a complete whiteout of both lungs with worsening acute respiratory distress syndrome (ARDS) with poor alveolar recruitment. The PaO2/FiO2 ratio was 98 making it severe ARDS. Extracorporeal membrane oxygenation (ECMO) was performed to allow the lungs to recover. The patient was successfully cannulated for venovenous ECMO with femoral-femoral access under fluoroscopy. Our patient was ventilated on a lung protective setting per ARDS net protocol with a tidal volume of 4-6 ml/kilogram of ideal body weight, positive end-expiratory pressure of 5, Fio2 of 50%, and respiratory rate of 20 as the initial setting. ECMO was managed via cardiothoracic surgery with a pulmonary critical care team and daily circuit checks. Despite broad-spectrum antibiotics, systemic steroids, and vasopressors, the patient showed no meaningful recovery over the next several days. Repeat bronchoscopy revealed targetoid ulcerative lesions, and mild erythema in the right middle and lower lobes. The left lower lobe had significant erythema, edema, and narrowing of the left main-stem bronchus with similar lesions (Figures 4-6). Serum HSV PCR results were positive for HSV deoxyribonucleic acid. The BAL fluid was not checked for a Polymerase chain reaction (PCR) for herpes simplex and revealed mixed inflammatory cells with 60% neutrophils, 25% macrophages, and 15% lymphocytes. The procedure did not include tissue biopsies and histology as serum HSV PCR was positive with bronchoscopic evidence of targetoid lesions. Empirically, we started broad antiviral treatment with ganciclovir for viral pneumonia. The tissue was negative for Gram staining, AFB staining, fungal staining, Epstein-Barr virus, and cytomegalovirus. On reexamination, there were no intraoral, vulvar, perianal, or cutaneous vesicles typical of HSV. The antiviral therapy was changed to acyclovir to target HSV. Despite these interventions, the patient did not show any meaningful improvement and developed multiorgan failure. The family ultimately chose to pursue comfort measures, and the patient died.",
"gender": "Female"
}
] |
PMC11135111
|
[
{
"age": 39,
"case_id": "PMC10694191_01",
"case_text": "The male infant, G1P1, with a gestational age of 39+1 weeks, was delivered by cesarean section because of fetal distress, at Xinyi People's Hospital of Guangdong Province on 12 August 2022. The mother had an uneventful prenatal history, with no reports of fever, premature rupture of membranes, and gestational diabetes mellitus, and tested negative for group B streptococcus. A placenta and umbilical cord examination showed no abnormalities, and the newborn weighed 2.6 kg. The immediate postnatal assessment indicated a full-term baby with meconium-stained amniotic fluid, heart rate >100 beats/min, good muscle tone, and vitality, and he exhibited loud crying. Routine newborn care such as providing warmth, cleaning the respiratory tract, drying the whole body, and stimulation was administered. The Apgar score was 10 at 1 min, 10 at 5 min, and 10 at 10 min. The neonate had apnea at 3 h of life, requiring neonatal intensive care unit (NICU) care and IV antibiotics (piperacillin) for suspected sepsis. An examination revealed hepatosplenomegaly. Blood tests revealed anemia and thrombocytopenia and a chest x-ray showed patchy inflammation in both lungs. Blood gas test results showed a PH of 7.23, PO2 of 55 mmHg, a PCO2 of 60 mmHg, a base excess (BE) of -6.6, and a lactic acid level of 7 mmol/L. In addition to sepsis, other viral infections were considered, with samples being taken for herpes simplex virus, cytomegalovirus, rubella virus, Toxoplasma gondii, and COVID-19; all of the test results proved negative. On the second day of life, the infant developed a fever of 38.5 C. Blood tests showed an increased C-reactive protein (CRP) level of 113.24 mg/L, white blood cell count (WBC) was normal, hemoglobin (Hb) level was 117.0 g/L, and platelet count (PLT) was 58 x 109/L. Antibiotic treatment was changed to meropenem (discontinued on the eight day of life) and vancomycin (discontinued on the sixth day of life). On the third day of life, his condition worsened and he presented with dyspnea, hypotension (42/21 mmHg), depressed sensorium, and other signs of sepsis, following which he required mechanical ventilation. A cardiac ultrasound revealed mild persistent pulmonary hypertension (tricuspid regurgitation peak gradient was 39 mmHg). Further history-taking revealed that the child's mother had been diagnosed with scrub typhus and hospitalized at 31+ weeks of gestation. She had an eschar on the left neck, approximately 3 mm x 3 mm in size, surrounded by a red halo, and received treatment with intravenous azithromycin for 3 days, followed by 4 days of oral azithromycin after the subsistence of fever. Unfortunately, she did not adhere to the prescribed treatment regimen after discharge, stopping medication just one day later. Because of this complex maternal history, a blood and CSF sample was taken for high-throughput sequencing (also known as next-generation sequencing, NGS), and oral azithromycin dry suspension was administered before the results became available. Blood tests on day 4 showed an elevated CRP level of 161 mg/L, Hb of 108.0 g/L, and PLT of 18 x 109/L. Apheresis platelets were used to improve the platelet count, and methylprednisolone was administered to reduce inflammation. On day 5, blood tests revealed a CRP of 164 mg/L, Hb of 103.0 g/L, and PLT of 43 x 109/L. High-throughput sequencing confirmed a significant presence of 16SrRNA sequences in the blood, confirming an Orientia tsutsugamushi infection. The infant continued to receive oral azithromycin treatment, and the results of subsequent blood culture tests were negative. He showed clinical improvement on the sixth day of life, as evidenced by sensorium improvement, normal blood pressure level, and spontaneous breathing. After this, the neonate's condition gradually improved, CRP gradually decreased, and platelets gradually recovered, following which he was weaned from ventilator inhalation to be placed on nasal catheter oxygen inhalation on the seventh day of life; on the 10th day of life, oxygen inhalation was also stopped. The neonate recovered and was discharged on the 16th day of life (Table 1). He was followed up for 9 months, and the outcome was favorable, with normal growth and development.",
"gender": "Male"
}
] |
PMC10694191
|
[
{
"age": 58,
"case_id": "PMC11242012_01",
"case_text": "A 58-year-old female who was a farmer complained of low back pain for six months, and it worsened progressively one month ago. The patient received medication and rest for 3 months, but the effect was unsatisfactory. On examination, the range of motion (ROM) of the lumbar spine was decreased and interspinous tenderness was positive at the L5-S1 level. Both sensation and muscle strength of the lower limbs are normal. The visual analog scale (VAS) score was eight points for low back pain. Anteroposterior and lateral x-rays showed poor visualization of the left L5 pedicle and a Meyerding grade 1 spondylolisthesis at the L5, respectively (Figures 1A,B). CT showed a right spondylolysis of L5 and a left pediculolysis at the same vertebra with surrounding hyperostosis and sclerosis, especially at the edges of the pedicle defect area (Figures 1C-E). Magnetic resonance imaging (MRI) showed hypointense on both T1- and T2-weighted images at the cleft area. She underwent intervertebral fusion and concurrent bilateral pedicle screw fixation at the L5-S1 level. Postoperatively, her back pain resolved and the VAS score was two points at her discharge. At the 2-year follow-up, sagittal and axial views on the CT scan showed signs of intervertebral fusion and fusion of the pedicle cleft and the fine screw position (Figures 2F-H).",
"gender": "Female"
},
{
"age": 47,
"case_id": "PMC11242012_02",
"case_text": "A 47-year-old female patient who was also a farmer suffered from lower back pain and radiating pain in the lower limbs for 1 year. She also depicted typical neurogenic claudication which could be relieved by immediate rest. Previously, she underwent physiotherapy for 6 months, but the pain became intractable recently. On physical examination, interspinous and paravertebral tenderness was positive at the L5-S1 level, while normal sensation and muscle strength were recorded at the lower limbs. The VAS score was seven points for the back pain and six points for the leg. X-rays showed Meyerding grade 1 spondylolisthesis of the L5, poor visualization of the left L5 pedicle, and spondylolysis on the right side (Figures 2A,B). CT showed a hypoplastic change of the left L5pedicle, a defect at the junction between the pedicle and vertebral body, and a minor hyperplastic change on the margin (Figures 2C-E). MRI showed hypointense of the pedicle cleft on both T1- and T2-weighted images without surrounding inflammatory changes (Figure 2F). She underwent a posterior approach L5-S1 intervertebral fusion with pedicle screw fixation. Postoperative follow-up showed satisfactory relief of low back and leg pain. At 1 year follow-up, CT showed a well-positioned internal fixation and a trend toward fusion at the pedicle cleft (Figures 2G,H).",
"gender": "Female"
}
] |
PMC11242012
|
[
{
"age": 31,
"case_id": "PMC11150044_01",
"case_text": "Our case is of a 31-year-old woman who had no underlying disease. She discovered a thyroid nodule during a routine health examination and presented at our hospital for further investigation. She did not have history of radiation exposure. She had no history of colonic polyps or a family history of familial adenomatous polyposis (FAP) or thyroid cancer. She worked as an office lady. She never smoked, consumed alcohol, chewed betel nuts, or used any illegal substances. Laboratory tests indicated normal levels of thyroid-stimulating hormone and free T4, but the anti-thyroid-peroxidase antibody levels were higher than average (548 IU/mL, reference range: <34 IU/mL). Thyroid ultrasonography revealed a heterogeneous echo texture in the thyroid gland and a solid, hypoechoic, wider-than-tall nodule measuring 11.8 x 10.2 x 12.4 mm in size with a smooth margin and no calcification (Figure 1(a)). According to the hypoechoic and solid features mentioned above, the Thyroid Imaging Reporting and Data System score was 4. Fine-needle aspiration cytology revealed papillary growth of tall and spindle-shaped cells with elongated nuclei and an increased nucleus-to-cytoplasm ratio (Figure 1(b)). The cytology was classified under Bethesda category VI, and the diagnosis was PTC. To screen for common genetic alterations, we employed the ThyroSCAN Cancer Diagnostics Kit (Quak BioTechnology). The analysis of the targeted genes did not reveal the presence of mutations such as BRAF V600E, NRAS Q61R, NRAS Q61K, HRAS Q61R, or HRAS Q61K mutations nor fusions of CCDC6-RET, NCOA4-RET, PAX8-PPARG, ETV6-NTRK3, TPM3-NTRK1, IRF2BP2-NTRK1, or SQSTM1-NTRK1 in the aspirated samples. In our differential diagnosis, we considered cribriform morular thyroid cancer and the tall cell variant of PTC. No abnormal lymph node was observed in thyroid ultrasonography or neck computed tomography findings. Subsequently, the patient underwent total thyroidectomy and central lymph node dissection. A pathological examination revealed a mixed pattern consisting of cribriform and morular features in the stratified tall cells, along with evidence of angioinvasion and capsular invasion. Immunohistochemical staining indicated a positive result for beta-catenin (cytoplasmic and nuclear expression) but negative results for thyroglobulin, PAX8, and BRAF (clone VE1). The result for TTF-1 was also positive, except in the morular regions (Figure 2). The final diagnosis was cribriform morular thyroid carcinoma measuring 1.2 cm in the maximal length without extrathyroidal extension, lymph node invasion, or distant metastasis, and it was categorized as stage I, pT1bN0M0. The patient had a smooth postoperative recovery and was discharged without any complications.",
"gender": "Female"
}
] |
PMC11150044
|
[
{
"age": 0,
"case_id": "PMC11135903_01",
"case_text": "A 5-month-old male infant was admitted to the pediatric emergency department with a history of cough and nasal obstruction for three days. He had a worsening of his general condition in the previous 24 hours, with fever, respiratory effort, reduced appetite and vomiting after feedings.\nHe was a previously healthy infant, with a gestational history of a low-risk pregnancy, with late-onset prenatal care (3rd trimester), normal obstetric ultrasonography (at 26 weeks of gestational age); however, morphological ultrasonography was not performed. He was born by vaginal delivery, at full-term, with adequate weight for gestational age, without complications.\nOn physical examination at admission, he was afebrile (36.8 C), tachycardic (158 bpm); tachypneic (50 bpm); with hypoxemia (SpO2 92%). Pulmonary auscultation showed reduced breath sounds on the left hemithorax and the presence of fine rales, rhonchi and diffuse wheezing bilaterally. Hyaline coryza and respiratory distress were observed, with moderate to severe intercostal, subcostal and sternal retraction. Cardiac auscultation showed muffled heart sounds. There was an improvement in oxygen saturation (98%) and respiratory effort with the administration of oxygen by a nasal catheter.\nThe patient was diagnosed with AVB and admitted to the pediatric ward due to the need of supplemental oxygen and moderate to severe respiratory effort. Laboratory and imaging tests were requested.\nRespiratory syncytial virus was detected on nasopharyngeal swab. Complete blood count revealed normal leukocyte count (8,000/muL), with a predominance of lymphocytes (72%=5,760/muL) and the presence of reactive lymphocytes (2%=160/muL), in addition to mild thrombocytosis (487,000/muL). C-reactive protein (CRP) was normal (5.8 mg/L; reference value: less than 10 mg/dL). Chest radiography showed an enlargement of the cardiac silhouette (Figure 1).\nDue to the radiographic finding, cardiac investigation was performed, identifying troponin levels of 86.5 pg/mL (reference value: up to 19.8 pg/mL) and creatine phosphokinase-MB mass (CKMB mass) levels of 18 U/L (reference value: up to 16U/L). Electrocardiogram showed alteration of left ventricular (LV) repolarization. Echocardiogram showed a heterogeneous mass, measuring 52x38 mm, on the lateral wall of the LV, with areas of calcification, preserving the LV inflow and outflow tract (Figure 1).\nChest CT angiography showed a large intramural cardiac mass in the LV with significant ventricular volume restriction and extracardiac extension, small foci of central calcification and small pericardial effusion (Figure 2).\nCardiac MRI showed a mass in the LV, measuring 5.5x5.3 cm, mobile with the cardiac cycle, extending closely to the pulmonary artery and into the mediastinum. A large mass effect was noted in the LV, with reduction of the ventricular cavity, moderately impairing its global function (LV Ejection Fraction [EF]=46%). T2-weighted images showed a mild myocardial hypersignal and markedly delayed contrast uptake (>10 minutes) (Figure 2).\nThe extracardiac extension of the lesion and pericardial effusion suggested aggressive behavior. However, the site and tissue characterization, i.e. foci of calcification and markedly slowed enhancement, suggested fibrotic components. Therefore, the hypotheses suggested by the imaging tests were rhabdomyosarcoma and cardiac fibroma.\nA Holter was performed and showed a pattern of complete right bundle branch block and isolated supraventricular extrasystoles. A total abdominal MRI and transfontanellar ultrasound were performed, due to the possibility of cardiac rhabdomyosarcoma, both being normal.\nThe patient underwent cardiac catheterization for biopsy, and fragments were sent for histopathological and immunohistochemical analysis. Since the biopsy was inconclusive, it was decided to start an off-label use of sirolimus.\nDuring the use of sirolimus, periodic echocardiograms were performed, in addition to weekly laboratory tests, including blood count, CRP, serum sirolimus dosage, renal function, liver function, and lipid profile. During this period, serum sirolimus was maintained within the therapeutic range, between 5 and 10 ng/mL, with no changes in other laboratory tests.\nThe echocardiogram in the second week of sirolimus use identified significant pericardial effusion, causing right ventricle (RV) dysfunction, and a pericardiocentesis was performed, draining 48 mL of serosanguineous fluid.\nAfter three weeks of sirolimus use, a control MRI was performed and there were no significant changes in the size or characteristics of the tumor mass, therefore the off-label use of sirolimus was discontinued.\nA new cardiac catheterization with biopsy was performed. Two tissue fragments were sent for anatomopathological analysis, the largest measuring 1.5 cm in length and 0.1 cm in diameter. Histopathological analysis this time was conclusive for cardiac fibroma.\nThe mass was a histologically benign tumor, but with aggressive behavior due to its size, location and infiltration in the myocardium. The patient required prolonged hospitalization, with the use of vasoactive drugs due to hemodynamic compromise. The tumor was not responsive to the off-label use of sirolimus, requiring cardiological polypharmacy, multiple hospitalizations due to cardiac decompensation, and the patient evolved with functional class 3 congestive heart failure (CHF), reaching an EF of 35%.\nDue to the progressive worsening of the EF and, consequently, of the functional class of CHF, it was decided to include the patient in the heart transplantation list, since the tumor resection was impossible due to its infiltration in the left ventricular myocardial wall.\nSix months after diagnosis, the patient underwent heart transplantation at the same hospital where the diagnosis was made, with a good postoperative course. Anatomy and histopathological findings of the surgical specimen confirmed the diagnosis of cardiac fibroma (Figures 3 and 4).",
"gender": "Male"
}
] |
PMC11135903
|
[
{
"age": 11,
"case_id": "PMC10985185_01",
"case_text": "An 11-year-old boy, with a past medical history of asthma and allergic oculorhinitis, performed skin prick tests which showed a positive reaction to grass mix (Dactylis glomerata, Festuca elatior, Lolium multiflorum, Phleum pratense, Poa pratensis) (4 mm diameter), bermuda grass (4 mm), ragweed (4 mm) and alternaria (6 mm). The specific IgE against molecular Alt a1 identified Alternaria as the main allergen (M229 84.90 kU/L). Therefore, treatment with a daily oral allergen extract of Alternaria by sublingual administration (SUBLIVAC HAL Allergy:Leiden, The Netherlands) was initiated (drops placed under the tongue for 2 min and then swallowed).\nFifteen months later, the patient was admitted to our pediatric emergency department for dysphagia, vomiting, drooling, and chest pain appeared while eating meat. His physical examination and vital signs were normal. The complete blood cell count showed mild peripheral eosinophilia (0.59 x 103 /mul). Upper gastrointestinal endoscopy revealed linear furrowing of the mucosa of the middle and proximal esophagus. Five esophageal biopsy specimens (2 from the distal third, 1 from the middle third, and 2 from the proximal third) were obtained. Histopathologic examination revealed severe eosinophilic predominant inflammation with infiltration of about 100 eos/HPF in nearly all biopsies, consistent with the diagnosis of EoE (Figure 1A).\nTherapy with omeprazole 1 mg/kg/day was prescribed for 8 weeks, with symptomatic relief. After 7 weeks of treatment, the patient underwent a second upper gastrointestinal endoscopy that revealed the persistence of linear furrowing and eosinophilic infiltration (>100 eos/HPF) (Figure 2). Thus, a new treatment with topical corticosteroids was started (swallowed Fluticasone Propionate 250 mug, 1 puff/4 times/day). Eight weeks later, upper gastrointestinal endoscopy showed an unchanged macroscopic aspect and the persistence of eosinophilic infiltration (>100 eos/HPF) (Figure 2). In the empirical attempt to address an elimination diet, trying to avoid an extensive elimination approach, which would be hardly accepted by the patient, we performed PATCH tests which were negative for the most common food allergens (milk, egg, soy, cereals, fish, peanuts). Before starting an extensive elimination diet, we decided to try to discontinue SLIT and to switch to injective subcutaneous immunotherapy (SCIT) for Alternaria. One month after SLIT discontinuation, upper gastrointestinal endoscopy showed a normal esophageal mucosa with a diffuse decrease of eosinophilic infiltration (5-10 eos/HPF), and only one specimen still consistent with EoE diagnosis (21 eos/HPF) (Figure 1B). During a follow-up of 15 months, the patient remained free of any esophageal symptoms and his family refused further endoscopic control (Figure 2).",
"gender": "Male"
}
] |
PMC10985185
|
[
{
"age": 83,
"case_id": "PMC10859462_01",
"case_text": "On May 2, 2023, an 83-year-old male was admitted, reporting a 15-day history of recurrent cough, sputum production, chest tightness, and wheezing. The patient described an exacerbation of these symptoms, characterized by white, viscous sputum, and noted that the chest tightness and wheezing intensified with physical activity. Despite self-medicating (details unspecified), the symptoms showed no significant improvement. Consequently, the patient sought medical care at our outpatient clinic. A pulmonary CT scan conducted on the same day revealed a lesion at the tracheal prominence indicative of malignant tumor (MT), enlarged mediastinal lymph nodes suggestive of lymphatic metastasis, a small nodule in the right lower lobe, and scattered inflammatory lesions in both lungs. The scan also showed signs of bronchiectasis and pulmonary emphysema ( Figure 1A ). The patient's medical history was notably unremarkable for major illnesses or exposures, and there was no history of substance abuse or familial diseases. Comprehensive examinations conducted on May 3, 2023, including blood tests and scans, yielded normal results, apart from elevated tumor markers (CEA, NSE, and ProGRP).\nOn May 5, 2023, a bronchoscopy identified an extrinsic compressive growth causing tracheal stenosis, with mucosal swelling and an irregular surface, approximately 13 cm below the glottis. The narrowed tracheal lumen measured about 10x5 mm, where a mucosal biopsy was obtained ( Figure 2A ). Histopathological examination and immunohistochemistry combined with diagnosis of tracheal SCC ( Figure 3 ), with the tumor tissue expressing CD56+, TTF-1+, NapsinA-, P40-P63-, and LCA-Ki-67 approximately 90% positive. The patient, classified as stage IIIB (T4N2M0) with an ECOG performance status of 1, tolerating the treatment well and exhibiting no significant adverse reactions. Follow-up pulmonary CT on June 28 ( Figure 1B ), August 22 ( Figure 1C ), and November 1, 2023 ( Figure 1D ), demonstrated a marked reduction in the tracheal prominence An electron bronchoscopy on November 2, 2023, revealed slight scarring and some point-like projections at the lower end of the tracheal prominence, without tracheal obstruction ( Figure 2B ).\nAdditionally, from the initial admission until November 5, 2023, the patient was subjected to regular monitoring encompassing blood routine, liver and kidney function, myocardial enzyme spectrum, and thyroid function tests. During this monitoring period, mild fluctuations were observed in thyroid hormone levels, which ranged between 40-46 mg/L and a slight leukopenia, varying between 1-2 degrees, were noted. Other parameters, including liver and kidney function tests and myocardial enzyme spectrum, consistently indicated no significant abnormalities. Importantly, throughout this period, the patient did not develop any immune-related dermatomyositis.",
"gender": "Male"
}
] |
PMC10859462
|
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