OpenMed/multicare-articles huggingface dataset:
Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review
Authors: Min Yin, Jiaxin Yang, Qinjie Tian, Xinyue Zhang
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: 17α-hydroxylase/17,20-lyase deficiency, cyp17a1 gene, congenital adrenal hyperplasia, dysgerminoma, ovarian gonadoblastoma
MeSH terms: Dysgerminoma / complications, Dysgerminoma / diagnosis, Dysgerminoma / genetics, Gonadoblastoma / complications, Gonadoblastoma / diagnosis, Gonadoblastoma / genetics, Lyases, Ovarian Neoplasms / complications, Ovarian Neoplasms / genetics, Review, Case Reports, Research Support, Non-U.S. Gov't, Child, Female, Humans, Hydrocortisone, Karyotype, Mixed Function Oxygenases, Mixed Function Oxygenases, Hydrocortisone, Lyases

17α-hydroxylase/17,20-lyase deficiency (17-OHD), caused by mutations in the gene of the cytochrome P450 family 17 subfamily A member 1 (CYP17A1), is a rare type of congenital adrenal hyperplasia (CAH), usually characterized by cortisol and sex steroid deficiency combined with excessive mineralocorticoid. Gonadoblastoma is a relatively rare ovarian tumor that is frequently seen among patients with 46,XY gonadal dysgenesis. Rarely have they been reported in female patients with normal 46,XX karyotype. Here, we report an interesting case of an 11-year-old Chinese girl who presented acute abdominal pain that was later attributed to tumor rupture of right ovarian gonadoblastoma with dysgerminoma. Further evaluations revealed hypertension and hypokalemia. Hormonal findings showed increased progesterone, hypergonadotropic hypogonadism, and low cortisol levels. Her chromosome karyotype was 46,XX without Y chromosome material detected. Genetic analysis revealed that the patient had a homozygous pathogenic variant c.985_987delTACinsAA (p.Y329Kfs*90) in exon 6 of the CYP17A1 gene and that her parents were all heterozygous carriers of this pathogenic variant. Due to the variable clinical manifestations of 17-OHD, meticulous assessment including genetic analysis is necessary. Further study is warranted to unravel the mechanism of gonadoblastoma in a patient with normal karyotypes.
Managing Bipolar Disease Complicated with Psychosis in Conjunction with Polypharmacy, Parkinson's Disease, and Multiple Comorbidities
Authors: Ricardo Irizarry, Ariel Sosa Gomez, Simeon Miles, Jean Tamayo Acosta
Journal: Case Rep Psychiatry (2022)
MeSH terms: Case Reports

The lifelong prevalence of bipolar disorder in adults, including subsyndromal forms, has increased over the years in the United States. By contrast, neurodegenerative diseases such as Parkinson's disease have demonstrated an age-related rise in prevalence. As the global population manages to live longer thanks to sociomedical developments, it is expected to observe a rise in the occurrence of comorbid neuropsychiatric disorders. Herein, we present the case and management regimen of a 51-year-old female patient with multiple comorbidities and in the presence of polypharmacy. She was diagnosed with Parkinson's disease and bipolar disorder type I alongside multiple comorbidities; her polypharmacy and medical history presented a significant clinical challenge in managing her condition. This case report focuses on the pharmacologic management of neuropsychiatric disorders titrated to this patient's particular needs, which were complicated by psychosis and comorbidities.
Metabolic complications of bypass surgery for morbid obesity
Authors: S Richard-Devantoy, J B Garré, B Gohier
Journal: Clin Med Case Rep (2009)
Keywords: wernicke’s encephalopathy, bariatric surgery, metabolic complications, morbid obesity, prevention
MeSH terms: Case Reports

Postoperative complications resulting from bariatric surgery can lead to severe vitamin-deficiency states. A patient who underwent bariatric bypass surgery and later developed Wernicke's encephalopathy prompted us to present her interesting case history for discussion. Although bariatric surgery is known to be a risk factor for Wernicke's encephalopathy, this diagnosis is only rarely evoked in the postoperative course. We recommend that the occurrence of digestive, psychiatric or neurological symptoms after bariatric surgery should suggest a thiamine deficiency that must be promptly assessed. Without waiting for the results, thiamine supplementation should be initiated.
Management of Severe Rhabdomyolysis and Exercise-Associated Hyponatremia in a Female with Anorexia Nervosa and Excessive Compulsive Exercising
Authors: Marwan El Ghoch, Simona Calugi, Riccardo Dalle Grave
Journal: Case Rep Med (2016)

This case report describes the management of a 49-year-old female with restricting-type anorexia nervosa and excessive compulsive exercising associated with rhabdomyolysis, high levels of serum creatine kinase (CK) (3,238 U/L), and marked hyponatremia (Na+: 123 mEq/L) in the absence of purging behaviours or psychogenic polydipsia; it is the first case report to describe exercise-associated hyponatremia in a patient with anorexia nervosa. The patient, who presented with a body mass index (BMI) of 13.4 kg/m2, was successfully treated by means of an adapted inpatient version of an enhanced form of cognitive behavioural therapy (CBT-E). Within a few days, careful water restriction, solute refeeding, and the specific cognitive behavioural strategies and procedures used to address the patient's excessive compulsive exercising and undereating produced a marked reduction in CK levels, which normalised within one week. Exercise-associated hyponatremia also gradually improved, with serum sodium levels returning to normal within two weeks. The patient thereby avoided severe complications such as cerebral or pulmonary oedema or acute renal failure and was discharged after 20 weeks of treatment with a BMI of 19.0 kg/m2 and improved eating disorder psychopathology.
Evolution of Advanced Chronic Lymphoid Leukemia Unveiled by Single-Cell Transcriptomics: A Case Report
Authors: Pavel Ostasov, Henry Robertson, Paolo Piazza, Avik Datta, Jane Apperley, Lucie Houdova, Daniel Lysak, Monika Holubova, Katerina Tesarova, Valentina S Caputo, Iros Barozzi
Journal: Front Oncol (2020)
Keywords: advanced disease, case report, chronic lymphoid leukemia (cll), disease progression, single-cell rna-seq (scrna-seq), therapy resistance
MeSH terms: Case Reports

Genetic and transcriptional heterogeneity of Chronic lymphocytic leukaemia (CLL) limits prevention of disease progression. Longitudinal single-cell transcriptomics represents the state-of-the-art method to profile the disease heterogeneity at diagnosis and to inform about disease evolution. Here, we apply single-cell RNA-seq to a CLL case, sampled at diagnosis and relapse, that was treated with FCR (Fludarabine, Cyclophosphamide, Rituximab) and underwent a dramatic decrease in CD19 expression during disease progression. Computational analyses revealed a major switch in clones' dominance during treatment. The clone that expanded at relapse showed 17p and 3p chromosomal deletions, and up-regulation of pathways related to motility, cytokine signaling and antigen presentation. Single-cell RNA-seq uniquely revealed that this clone was already present at low frequency at diagnosis, and it displays feature of plasma cell differentiation, consistent with a more aggressive phenotype. This study shows the benefit of single-cell profiling of CLL heterogeneity at diagnosis, to identify clones that might otherwise not be recognized and to determine the best treatment options.
Hampton's Hump: A Notable Radiographic Finding in a Patient with Infectious Endocarditis
Authors: Matthew Earle, James Bailey, Ross P Berkeley
Journal: Case Rep Emerg Med (2021)
MeSH terms: Case Reports

Infectious endocarditis is a relatively uncommon entity that may present with a variety of clinical scenarios, ranging from a stable patient with nonspecific symptoms to a critically ill patient suffering from embolic disease. We report a case of an otherwise healthy 35-year-old female who presented to the Emergency Department with gradually progressive dyspnea, weight loss, and lower extremity edema. As part of her initial evaluation, a chest radiograph was performed and demonstrated Hampton's Hump, a peripheral wedge-shaped opacity consistent with a possible pulmonary infarct. Further diagnostic investigation in the Emergency Department led to an unanticipated diagnosis of infectious endocarditis. This case serves as an important reminder that nonspecific diagnostic findings need to be appropriately considered in context and is a rare demonstration of Hampton's Hump associated with infectious endocarditis.
Complicated crown-root fracture treated using reattachment procedure: a single visit technique
Authors: Akhil Rajput, Sangeeta Talwar, Ida Ataide, Mahesh Verma, Neeraj Wadhawan
Journal: Case Rep Dent (2011)
MeSH terms: Case Reports

Complicated crown-root fracture of maxillary central and lateral incisors is common in case of severe trauma or sports-related injury. It happens because of their anterior positioning in oral cavity and protrusive eruptive pattern. On their first dental visit, these patients are in pain and need emergency care. Because of impaired function, esthetics, and phonetics, such patients are quite apprehensive during their emergency visit. Successful pain management with immediate restoration of function, esthetics and phonetics should be the prime objective while handling such cases. This paper describes immediate treatment of oblique crown root fracture of maxillary right lateral incisor with reattachment procedure using light transmitting fiber post. After two and half years, the reattached fragment still has satisfying esthetics and excellent function.
Ascariasis, trichuriasis and fatal non-transfusion
Authors: Larry Nichols, Joshua Curtis Bridgewater, Nicholas Brennan Wagner
Journal: Autops Case Rep (2021)
Keywords: anemia, ascariasis, blood transfusion, transfusion reaction, trichuriasis
MeSH terms: Case Reports

Blood transfusion for chronic anemia can lead to acute or decompensated heart failure in patients who have fluid overload as part of their compensatory response and/or have intrinsic heart disease, and then it could be fatal in such clinical scenarios. This is the report of a case of profound chronic anemia in a young male patient, who was not transfused and then developed confusion followed by terminal cardiopulmonary arrest. Autopsy revealed severe trichuriasis to be the cause of the anemia, along with severe ascariasis, but minimal intrinsic brain disease. This supports the conclusion that anemia was the cause of the confusion, and the lesson that confusion may be a sign that the benefit of blood transfusion outweighs the risk in a patient with severe chronic anemia.
Percutaneous Thrombin Injection with Balloon Protection for a Large Iatrogenic Femoral Artery Pseudoaneurysm: A Case Report with Review of Literature
Authors: Ranjan Patel, Tara Prasad Tripathy, Ripan Debbarma, Sudipta Mohakud, Satyapriya Mohanty, Nerbadyswari Deep Bag
Journal: Acta Med Litu (2023)
Keywords: percutaneous thrombin injection, ballon assisted, femoral artery pseudoaneurysm
MeSH terms: Case Reports

Iatrogenic femoral artery pseudoaneurysms (IFAPs) are not uncommon due to the increase in various minimally-invasive endovascular procedures. Percutaneous thrombin injection is an established technique for large pseudoaneurysms. When ultrasound-guided compression of an aneurysmal neck is not feasible, percutaneous thrombin injection can be combined with endovascular balloon occlusion to prevent leakage of thrombin into the parent artery. We describe a large IFAP following the removal of the femoral dialysis catheter after an inadvertent arterial puncture, which was managed with percutaneous ultrasound-guided (USG) thrombin injection with simultaneous balloon occlusion at the level of the aneurysmal neck without any complications. Follow-up imaging showed thrombosed IFAP without any recurrence.
Death by Disimpaction: A Bradycardic Arrest Secondary to Rectal Manipulation
Authors: Christopher S Sampson, Cory M Shea
Journal: Case Rep Emerg Med (2016)
MeSH terms: Case Reports

Rectal examination and fecal disimpaction are common procedures performed in the Emergency Department on a daily basis. Here, we report a rare case of a patient suffering a cardiac arrest and ultimately death likely due to rectal manipulation. A 66-year-old male presented to the Emergency Department (ED) with a complaint of abdominal distention and constipation. A rectal exam was performed. During the examination the patient became apneic. On the cardiac monitor the patient was found to be in pulseless electrical activity with a bradycardic rate. Our recommendation would be to provide adequate analgesia and close patient monitoring of those undergoing this procedure especially patients with significant stool burdens.
Recurrent CSF Rhinorrhea Misdiagnosed as Chronic Allergic Rhinitis with Subsequent Development of Bacterial Meningitis
Authors: Michael T Ulrich, Lawrence K Loo, Michael B Ing
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Introduction:
Cerebrospinal fluid (CSF) rhinorrhea results from an abnormal communication of the dura mater to the nasal mucosa. The majority of cases of CSF rhinorrhea are the result of trauma or surgery involving the skull base. Spontaneous CSF rhinorrhea is a rare clinical entity with increased risk of ascending infection. Delay in diagnosis places the patient at risk of developing meningitis.
Case presentation:
A 36-year-old African American female with significant medical history of obesity and hypertension presented to the emergency department with headache, altered level of consciousness, fever, and neck stiffness. Previously, the patient was diagnosed with chronic allergic sinusitis by multiple providers. Physical exam findings and laboratory tests were consistent with bacterial meningitis. The patient was admitted and started on appropriate antibiotic therapy. The patient continued to complain of persistent unilateral clear nasal drainage. The initial report from the computerized tomography scan of the sinuses indicated findings consistent with chronic sinusitis. Magnetic resonance imaging of the orbits revealed findings consistent with CSF rhinorrhea. Otolaryngology was consulted for surgical intervention.
Conclusion:
Suspected CSF rhinorrhea should prompt immediate biochemical and radiologic evaluation and surgical consultation. CSF rhinorrhea places patients at risk of developing bacterial meningitis.
Case Report: Endoscopic trans-cerebellar medullary fissure approach for the management of brainstem hemorrhage
Authors: Xue-Jian Wang, Longyao Zhang, Yu-Hua Yin, Zhi-Feng Wang, Yi Zhang, Cheng Sun, Zhi-Ming Cui
Journal: Front Neurol (2023)
Keywords: brain stem, brain stem hemorrhage, endoscopic, trans-cerebellar medullary fissure approach, trans-cerebellar medullary fissure approach to brain stem hemorrhage endoscopic
MeSH terms: Case Reports

Objective:
Brainstem hematoma (BSH) is a high-risk condition that can lead to deadly and disabling consequences if not properly managed. However, recent advances in endoscopic techniques, employed for removing supratentorial intracerebral hemorrhage have shown significant improvements in operative morbidity and mortality rates compared to other approaches. In this study, we demonstrate the utility and feasibility of the endoscopic trans-cerebellar medullary fissure approach for the management of brain stem hemorrhage in carefully selected patients.
Patients and methods:
A 55-year-old man presented to the emergency department in a comatose state with respiratory distress. A CT scan revealed the presence of a brainstem hemorrhage. Given the location of the hemorrhage and the need to quickly manage the associated developmental obstructive hydrocephalus and respiratory distress, an endoscopic trans-cerebellar medullary fissure approach was chosen as the most appropriate method of treatment.
Results:
Total resection was achieved, and the patient gradually improved postoperatively with no new neurological deficits. He is currently under routine follow-up and is conscious but has partial hemiplegia.
Conclusion:
This approach provided direct visualization of the lesion and was minimally invasive. The endoscopic trans-cerebellar medullary fissure approach may be considered an alternative to open approaches for brainstem hemorrhage in carefully selected patients.
A Case of Laying Hens Mycosis Caused by Fusarium proliferatum
Authors: Ramziya M Potekhina, Evgenya Yu Tarasova, Lilia E Matrosova, Nail I Khammadov, Alexander M Saifutdinov, Olga K Ermolaeva, Svetlana A Tanaseva, Nailya N Mishina, Gali N Nigmatulin, Aisylu Z Mukharlyamova, Sergey Yu Smolentsev, Eduard I Semenov
Journal: Vet Med Int (2023)

In this article, we present the first case report of a chicken mycosis caused by F. proliferatum occurred on a private farm in the Russian Federation. Lesions on the skin of the legs and scallops were reported. The object of this study was samples of feed and pathological material from sick hens-layers. Mycological analysis included determination of the total number of fungi (TNF) and identification and determination of the toxicity and pathogenicity of the isolates. The identification of the isolate was carried out taking into account direct microscopy, morphological features, and the method of molecular genetic analysis. Microscopic fungi of the genus Penicillium and Rhizopus were isolated by mycological analysis of the feed. The test feed was nontoxic. Mycological examination of pathological material (scrapings from the combs and affected legs) identified an isolate of Fusarium proliferatum, which showed toxicity on biological objects (protozoa, rabbits) and pathogenicity (white mice). Dermal application of F. proliferatum suspension was accompanied by reddening of the rabbit skin. Intraperitoneal injection of fungal spores caused mycosis in white mice. Polymerase chain reaction (PCR) made it possible to identify this type of microscopic fungus (F. proliferatum) with high accuracy in the samples under study. The research results allow us to consider F. proliferatum as a cause of poultry disease against the background of predisposing factors in the form of desquamation of the stratum corneum of the skin against the background of immunosuppression and metabolic disorders caused by an imbalance in the diet.
Pancreatic Endocrine Neoplasm Concomitant with a Complicated Endocrine History: A Case Report and Literature Review
Authors: Amelia Rogers, Christine Lotto, Charles J Yeo
Journal: J Pancreat Cancer (2017)
Keywords: atrophic gastritis, gastric carcinoid syndrome, hypergastrinemia, pancreatic neuroendocrine tumor, pernicious anemia
MeSH terms: Case Reports

Background: Pancreatic neuroendocrine tumors (PNETs) are rare, and metastases when present are most commonly found in the liver or the peripancreatic lymph nodes. In this study, we present a patient who developed a metastatic PNET in the liver in the setting of multiple concomitant autoimmune disorders, including pernicious anemia and atrophic gastritis with hypergastrinemia. Case presentation: The patient is a 70-year-old woman with a history of Hashimoto's thyroiditis, thymoma, gastric carcinoid tumors, and autoimmune atrophic gastritis with pernicious anemia. She was found to have a 2 cm mass in the pancreaticoduodenal groove originating from the pancreas. A preoperative endoscopic ultrasound with fine-needle aspiration showed a well-differentiated PNET. During surgery, she was found to have multiple subcentimeter liver lesions, which on frozen section were shown to be a metastatic neuroendocrine tumor. After surgical resection, final pathology revealed a PNET with metastases to the liver. The metastatic lesions stained positive for gastrin. Conclusion: We were only able to find one other example in the literature of a PNET occurring in association with pernicious anemia. Our patient developed a metastatic PNET in the setting of multiple autoimmune disorders, including pernicious anemia.
Tc99m MDP bone SPECT in a case of osteomyelitis of the skull
Authors: Ravinder Singh Sethi, Br Mittal, Anish Bhattacharya, Baljinder Singh
Journal: Indian J Nucl Med (2010)
Keywords: 99mtc-mdp, bone spect, osteomyelitis skull
MeSH terms: Case Reports

A seven-year-old male child presented with swelling at the left temporal region. His skull X-ray was normal. A three-phase bone scan showed increased blood flow, soft tissue activity, and increased tracer concentration in the left temporal region. Single photon emission computed tomography (SPECT) imaging of the skull revealed full thickness involvement of the left temporal bone. Our case report shows that, in osteomyelitis of the skull, SPECT imaging provides significantly more information for identifying the extent and thickness of bone involvement.
Biventricular Noncompaction Cardiomyopathy in an Adult with Unique Facial Dysmorphisms: Case Report and Brief Review
Authors: Gaurav Rao, James Tauras
Journal: Case Rep Cardiol (2015)

Left ventricular noncompaction (LVNC) is a rare cardiomyopathy that is believed it to arise from an arrest in embryonic endomyocardial development. More recent studies suggest that it can be acquired later on in life sporadically. It may be accompanied by life-threatening complications, which are most commonly heart failure, arrhythmias, and thromboembolic events. We report a case of biventricular noncompaction cardiomyopathy in a 36-year-old man presenting for the first time with clinical heart failure as well as atrial arrhythmia. Transthoracic echocardiography (TTE) revealed LVNC with depressed ejection fraction (EF). Cardiac magnetic resonance imaging (MRI) further revealed a left atrial appendage thrombus as well as right ventricular noncompaction involvement. His physical exam was unique for a characteristic facial dysmorphisms pattern and developmental delays reminiscent of the earliest descriptions of LVNC in the pediatric population and it was rarely described in adult patients. This unique presentation underscores the importance of a better understanding of the genetics and natural course of LVNC. This will help us to elucidate the uncertainty surrounding its clinical management, discussed in a brief review of the literature following the case.
Identification of a novel mutation in the factor VIII gene causing severe haemophilia A
Authors: S K Nissen, A L Laursen, L H Poulsen, T H Mogensen
Journal: BMC Hematol (2018)
Keywords: factor 8 gene mutation, haemophilia, whole exome sequencing
MeSH terms: Case Reports

Background:
Deficiency in coagulation factor VIII encoded by F8 results in the X-linked recessive bleeding disorder haemophilia A (HEMA). Here we describe the identification of a novel variant in the factor VIII gene, F8, in an adult male patient with severe haemophilia A.
Case presentation:
The patient was diagnosed in early childhood and subsequently co-infected with Hepatitis C and HIV acquired during early blood transfusion for haemophilia in the 1980ies. The identified F8 deletion, c.5411_5413delTCT, p.F1804del lies within a conserved part of the molecule, is predicted by bioinformatic software to be deleterious by the loss of Phenylalanine, and has not been previously described in any database.
Conclusion:
This novel F8 deletion as a cause of haemophilia A did not result in generation of inhibitory antibodies to Factor VIII treatment and may have impact on (prenatal) diagnosis, genetic counselling, and treatment decisions in the affected family as well as in other families diagnosed with this F8 mutation. Finally, this novel mutation should be included in the panel of known genetic variants in F8 when searching for the genetic etiology in patients suspected of HEMA.