OpenMed/multicare-articles huggingface dataset:
46,XY Disorder of Sex Development Caused by 17 α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis
Authors: Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Carlo Di Donato, Alfredo Pontecorvi, Salvatore Maria Corsello
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Context:
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway.
Case description:
A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. CT scan revealed enlarged adrenal glands bilaterally and the absence of the uterus, the ovaries, and the Fallopian tubes. Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of the CYP17A1 gene she resulted homozygous for the g.4869T>A; g.4871delC (p.Y329Kfs?) mutation in exon 6. Hydrocortisone and ethinyl-estradiol supplementation therapy led to incomplete withdrawal of antihypertensive drug and breast development progression to Tanner stage B2 and slight height increase, respectively.
Conclusions:
We describe a late-discovered case of CAH with 46,XY disorder of sex development. Deficiency of 17α-hydroxylase/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. Laboratory, imaging, and genetic features are herein reported and discussed.
Leydig cell tumor of the testis with azoospermia and elevated delta4 androstenedione: case report
Authors: J Prasivoravong, A-L Barbotin, A Derveaux, C Leroy, X Leroy, P Puech, V Mitchell, F Marcelli, J-M Rigot
Journal: Basic Clin Androl (2016)
Keywords: azoospermia, hormone secreting testicular tumor, infertility, leydig cell tumor, tese, delta4 androstenedione
MeSH terms: Case Reports

Background:
Secreting interstitial cell (Leydig cell) tumors are rare. In adults, the clinical picture and steroid levels are variable.
Case presentation:
This paper presents a case of left testicular tumor, showing azoospermia with normal serum level of total testosterone, collapsed FSH and LH, and high delta4 androstenedione. Histopathological investigation revealed a Leydig cell tumor. TESE allowed spermatozoa extraction and freezing. Testicular histology found hypospermatogenesis and germ-cell aplasia with interstitial fibrosis. Surgical resection of the tumor resulted in normalization of gonadotropins and fall in serum delta4 androstenedione to subnormal levels in the postoperative period confirming that the tumor was secreting delta4 androstenedione. It was hypothesized that high delta4 androstenedione resulted in intra tumoral 17 β-HSD overtaken by delta4 androstenedione or that 17 β-HSD activity in the tumor was different from that of normal Leydig cells. Three months after surgery sperm analysis found a complete recovery of spermatogenesis. A spontaneous pregnancy occurred 3 months after surgery and a girl was born.
Conclusions:
In this case, the diagnosis of testicular Leydig cell tumor secreting delta4 androstenedione was made in a context of azoospermia.
Successful outcome in acute gastric volvulus in a low resource hospital setting in Bangladesh: A case report
Authors: Bappy Basak, M Tasdik Hasan, Jessica Stauber, Amit Sen Gupta, Safiqul Islam, S M Quamrul Akther
Journal: Int J Surg Case Rep (2020)
Keywords: bangladesh, case report, organoaxial volvulus, young patient
MeSH terms: Case Reports

Introduction:
Gastric volvulus is a rare medical emergency that can be fatal if not recognized early. Its rarity makes it quite challenging to diagnose but delaying in diagnosis and treatment can lead to fatal complications. Meticulous assessment and broadened differential diagnosis are thus crucial. Organoaxial volvulus, in which the stomach rotates 180 degrees around its long axis, is the most common subtype of gastric volvulus, occurring predominantly in infants and older adults.
Presentation of the case:
Here, we present a case of acute organoaxial gastric volvulus in a 17-year-old male presenting to a low-resource hospital in Bangladesh with severe upper abdominal pain and postprandial vomiting. Initial assessment revealed severe epigastric tenderness and mild dehydration. Plain abdominal x-ray showed a hugely distended bowel with single air fluid level and thoracic herniation of the stomach. The patient was resuscitated then sent to the operating theatre for urgent laparotomy and sleeve gastrectomy with anterior gastropexy. Treatment was successful, and the patient survived.
Discussion:
Acute gastric volvulus, a life-threatening surgical emergency can be treated successfully if identified timely. Though the CT scan is diagnostic, Borchardt's triad can be helpful as well.
Conclusion:
This is the second consecutive case managed by the same surgeon in the same hospital, highlighting that high index of clinical suspicion is an important tool to diagnose this condition early. Timely diagnosis and treatment are essential to avoid fatal complications, denoting the importance of documenting such cases.
Case Report: Daratumumab in a Patient With Severe Refractory Anti-NMDA Receptor Encephalitis
Authors: Dominica Ratuszny, Thomas Skripuletz, Florian Wegner, Matthias Groß, Christine Falk, Roland Jacobs, Heiner Ruschulte, Martin Stangel, Kurt-Wolfram Sühs
Journal: Front Neurol (2020)
Keywords: anti-nmda receptor encephalitis, autoimmune encephalitis, bortezomib, critical care, daratumumab
MeSH terms: Case Reports

Anti-NMDA receptor encephalitis is the most common type of antibody mediated autoimmune encephalitis (AIE). Patients often develop neuropsychiatric symptoms and seizures, women are affected about four times more than men, and in about 50% the disease is associated with a neoplasia, especially teratomas of the ovary. We describe the case of a 20-year-old woman suffering from a severe therapy refractory course of anti-NMDA receptor encephalitis. Treatment included glucocorticoids, plasma exchange, intravenous immunoglobulins, rituximab, and bortezomib without clinical improvement. Due to a therapy refractive course 28 weeks after disease onset, the patient received 10 cycles of daratumumab. Therapy escalation was performed with the anti-CD38 monoclonal antibody daratumumab as off label treatment, based on the therapy of refractory myeloma and led to an improvement of her clinical status. She spent about 200 days on the intensive care unit, followed by several weeks on the intermediate care unit with close follow ups every 4-6 weeks afterward. During follow-up, the patient was able to resume everyday and self-care activities, reflected by the modified Rankin scale (mRS) and Barthel index. Because this disease is potentially life threatening and can lead to irreversible brain atrophy, development of further therapy strategies are of great importance. Our case describes a successful treatment for therapy refractory anti-NMDA receptor encephalitis using the anti-CD38 antibody daratumumab.
Case Report: Pulmonary hemorrhage as a rare cause of lung ultrasound A/B-profile
Authors: Mark E Haaksma, Esther J Nossent, Paul Elbers, Pieter Roel Tuinman
Journal: F1000Res (2019)
Keywords: blue-protocol, lung ultrasound, pulmonary hemorrhage
MeSH terms: Hemorrhage, Lung Diseases / complications, Lung Diseases / diagnostic imaging, Pneumonia, Respiratory Distress Syndrome, Case Reports, Aged, Humans, Lung, Male, Ultrasonography

When using lung ultrasound to determine the cause of acute respiratory failure, the BLUE protocol is often used. In a 65-year old patient, an A/B-profile was found, suggesting pneumonia, following the flowchart of this protocol. In this case, however, pulmonary hemorrhage confirmed by bronchoscopy was the final diagnosis. This case report outlines the importance of understanding the limitations of the BLUE protocol and that lung ultrasound findings should always be used in the context of the patient's history and physical exam. In addition, pulmonary hemorrhage should be considered in patients with no clinical signs of pneumonia and/or presence of risk factors for lung bleeding as a rare cause of lung ultrasound A/B-profile.
A Rare Case of Coexisting Breast Cancer and Refractory Acute Myeloid Leukemia
Authors: L Ballotta, S M Trisolini, A P Iori, U La Rocca, A Micozzi, G Gentile, T De Giacomo, A Guarini, R Foà, S Capria
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

The occurrence of acute myeloid leukemia (AML) within six months from a diagnosis of breast cancer (BC) is rarely reported in the literature, and it is associated with a poor prognosis. We report herein the case of a 40-year-old woman referred to our centre affected by BC and simultaneous AML. The patient proved refractory to first line therapy and achieved complete remission (CR) with a clofarabine-based regimen followed by allogeneic stem cell transplantation (ASCT). Both during salvage chemotherapy and after ASCT, the patient presented severe infectious complications ( acute cholecistytis and Nocardia pneumonia, respectively) treated with surgery, and currently she is alive in CR for both diseases after 29 months of follow-up. The case highlights the importance of a diagnostic assessment of any unexplained cytopenia in association with solid neoplasia under treatment, underlining the feasibility and priority of a timely treatment of the haematological neoplasm in order to achieve long-term survival.
Nasopharyngeal Pleomorphic Adenoma: A Rare Case Report and Review of the Literature
Authors: Serdal Celik, Osman Kilic, Tulay Zenginkinet, M Tayyar Kalcioglu
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Salivary gland tumors are rare among all head and neck tumors. Pleomorphic adenoma (PA) is the most commonly seen subtype, and 85% of the cases are located in the parotid gland. PA may very rarely be seen in minor salivary glands. Minor salivary gland PAs are mostly located in the hard and soft palates. Nasopharyngeal PA is very rare, and a total of 8 cases have been published to date. In this case report, a 51-year-old female patient who had nasopharyngeal PA with chondroid metaplasia is presented, and we review the relevant literature.
JAK2 V617F mutation, multiple hematologic and non-hematologic processes: an association?
Authors: Kenneth G Liu, Amit Verma, Olga Derman, Noah Kornblum, Murali Janakiram, Ira Braunschweig, Ramakrishna Battini
Journal: Biomark Res (2016)
Keywords: acute myeloid leukemia, case report, chronic myelomonocytic leukemia, diffuse large b-cell lymphoma, jak2 v617f, lung adenocarcinoma, myeloproliferative neoplasm
MeSH terms: Case Reports

Background:
Population studies showed that patients with JAK2 V617F mutation had increased mortality, and increased risk of any cancer, hematologic cancer, and myeloproliferative disease.
Case presentation:
A 68-year-old Asian male with JAK2 V617F mutation developed four different hematologic and non-hematologic neoplastic processes. In 2009, he was diagnosed with stage IA lung adenocarcinoma and also noted to have worsening leukocytosis and thrombocytosis with peak platelet count of 1,054,000/mL). Bone marrow biopsy was consistent with myeloproliferative neoplasm. His monocyte percentage increased in 2011 and met criteria for chronic myelomonocytic leukemia. In 2013, he was admitted for proximal small bowel obstruction, with biopsy confirming stage IE diffuse large B-cell lymphoma. In 2014, a bone marrow biopsy performed for worsening leukocytosis was consistent with acute myeloid leukemia with monocytic differentiation.
Conclusion:
This is a rare case depicting the association of JAK2 V617F mutation with myeloproliferative, lymphoproliferative and solid neoplasms.
Long-Term Clinical and Immunological Impact of Severe COVID-19 on a Living Kidney Transplant Recipient - A Case Report
Authors: Liru Qiu, Ji Zhang, Yafei Huang, Gen Chen, Zhishui Chen, Changsheng Ming, Xia Lu, Nianqiao Gong
Journal: Front Immunol (2021)
Keywords: covid-19, immunity, living kidney transplant, lung injury, renal tubular injury
MeSH terms: COVID-19 / blood, COVID-19 / diagnosis, COVID-19 / therapy, Kidney Transplantation, SARS-CoV-2 / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Cytokines / blood, Humans, Immunosuppressive Agents / therapeutic use, Kidney Failure, Chronic / therapy, Leukocyte Count, Male, Oxygen / therapeutic use, RNA, Viral / analysis, Transplant Recipients, Cytokines, Immunosuppressive Agents, RNA, Viral, Oxygen

The long-term impact of COVID-19 on transplant recipients remains unknown. We describe the case of a 30-year-old male kidney transplant recipient from Wuhan, China that was treated for severe COVID-19 in February 2020. He suffered an acute lung and renal injury and required systemic treatment including adjustment of his immunosuppressant regime. He was followed up to 1-year after discharge. No chronic lung fibrosis or deterioration of his pulmonary function was observed. Despite COVID-19 mediated damage to his renal tubular cells, no transplant rejection occurred. His immunological profile demonstrated both cellular anti-SARS-CoV-2 reactivity and specific humoral immunity, indicating that it is beneficial for the transplanted patients to be immunized with SARS-CoV-2 virus vaccine. This case will help guide clinical decision making for immunocompromised individuals that become infected with SARS-CoV-2.
Histoplasma capsulatum: An Unusual Case of Pericardial Effusion and Coarctation of the Aorta
Authors: Sarah Sansom, Aditya Shah, Shoeb Hussain, Jami Walloch, Sampath Kumar
Journal: J Clin Med Res (2016)
Keywords: adult congenital heart disease, aortic coarctation, histoplasma, histoplasmosis, pericardial effusion, pericarditis
MeSH terms: Case Reports

Histoplasma capsulatum is a fungus that is endemic in many parts of the world and can present with a wide variety of symptoms. Here we present a case of a previously healthy 19-year-old female who presented with shortness of breath. She was found to have a right lung mass and coarctation of the aorta on computed tomography imaging. Pathology revealed granuloma caused by Histoplasma capsulatum. She later developed massive pericardial effusion, requiring emergent pericardiocentesis. She was treated with anti-fungal therapy and recovered well. This case illustrates an unusual presentation of newly diagnosed coarctation of the aorta complicated by Histoplasma pericardial effusion. Imaging and pathology slides are reviewed.
Supra hepatic inferior vena cava and right atrial thrombosis following a traffic car crash
Authors: Feridoun Sabzi, Hosein Karim, Marjan Haghi
Journal: J Inj Violence Res (2016)
MeSH terms: Accidents, Traffic, Heart Atria / injuries, Hepatic Veins / injuries, Thrombosis / etiology, Vena Cava, Inferior / injuries, Case Reports, Adult, Echocardiography, Heart Atria / diagnostic imaging, Hepatic Veins / diagnostic imaging, Humans, Male, Thrombosis / diagnostic imaging, Vascular Patency

We present a case of nephrotic syndrome associated with right atrial and supra hepatic vein part of inferior vena caval thrombosis. This patient presented with dyspena, lower extremity edema and back pain after a vehicle accident and blunt trauma to the abdomen. Trauma should be considered not only as a thrombophilic pre-disposition, but also as a predisposing factor to IVC endothelium injury and thrombosis formation. Echocardiography revealed supra hepatic vein IVC thrombosis floating to the right atrium. A C-T scan with contrast also showed pulmonary artery emboli to the left upper lobe. With open heart surgery, the right atrial and IVC clot were extracted and the main left and right pulmonary arteries were evaluated for possible clot lodging. The patient had an uneventful postoperative recovery and thrombosis has not reoccurred with periodical follow-up examinations.
A Discussion of High-Risk HPV in a 6-Year-Old Female Survivor of Child Sexual Abuse
Authors: Connie D Cao, Lena Merjanian, Joelle Pierre, Adrian Balica
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Background:
Human papilloma viruses (HPVs) cause a variety of clinical manifestations in children including skin warts, laryngeal papillomas, and condyloma acuminatum. Whereas the mode of transmission is well understood and management of HPV infection is clearly defined by guidelines in adults, less is known about the mode of transmission, natural history of disease, and appropriate management of high-risk anogenital HPV infections in children.
Case:
The patient is a previously healthy 6-year-old female who presented with multiple vaginal lesions causing pain and discomfort and was diagnosed with HPV 18 positive CIN I.
Summary and conclusion:
Children infected with high-risk HPV subtypes remain a vulnerable patient population, and there is minimal literature on the natural history of disease and effects of overtreatment. Based on a literature review, conservative management, HPV vaccination, and consideration of the cervical cancer screening guidelines for adolescent females are an appropriate treatment course until more studies are reported on cervical cancer screening in survivors of child sexual abuse.
Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions
Authors: Jing Xiong, Wei Tu, Yifei Yan, Kai Xiao, Yanyi Yao, Shouxin Li, Liu Yang, Min Zhou, Yang Liu, Jin Hu, Feng Zhu
Journal: Front Genet (2019)
Keywords: nog gene, mutation, proximal symphalangism, tarsal coalition, whole exome sequencing

Background:
Proximal symphalangism (SYM1) is a rare genetic bone disorder characterized by the fusion of proximal interphalangeal joints in the hands and feet. Genetic studies have identified two genes underlying SYM1 as the noggin (NOG) and the growth differentiation factor 5 (GDF5).
Case report:
In the present report, a 43-year-old gravida at 11 weeks of gestation was referred for evaluation of abnormal fusions of the joints. In the initial diagnosis, physical examination was undertaken. However, traditional radiological examination was not applied due to the need to protect the fetus, making diagnosis results inefficient to determine the exact disease affecting the proband. To acquire alternative clinical evidences, we conducted radiological examinations on two other affected family members. The radiological examination revealed that they carried the symphalangism accompanied with tarsal coalition, a very rare manifestation of SYM1. A combination of whole exome sequencing (WES) and Sanger sequencing revealed a novel heterozygous missense mutation (c.163G > T; p.Asp55Tyr) in the NOG gene, which could be associated with the observed pathogenic SYM1 in the studied family. The p.Asp55Tyr mutation co-segregated with SYM1 through the affected and unaffected family members. In silico structural modeling of the p.Asp55Tyr mutation showed that it abolishes the interaction with the Arg167 residue and causes a change in the electrostatic potential profile of the type II binding site of the noggin protein.
Conclusion:
Our findings indicate that the genetic test based on WES can be useful in diagnosing SYM1 patients, with particular advantages in preventing the fetus from contacting harmful X-ray through the traditional radiography. The novel pathogenic mutation identified would further expand our understanding of the mutation spectrum of NOG in association with SYM1 disease and provide a guidance on how to determine whether the fetus is affected by SYM1 through the prenatal diagnosis.
Phenotypic vs. genetic cascade screening for familial hypercholesterolemia: A case report
Authors: Anastasia V Blokhina, Alexandra I Ershova, Alexey N Meshkov, Anna V Kiseleva, Marina V Klimushina, Anastasia A Zharikova, Evgeniia A Sotnikova, Vasily E Ramensky, Oxana M Drapkina
Journal: Front Cardiovasc Med (2022)
Keywords: ldlr, cascade screening, duplication, familial hypercholesterolemia, genetic screening, molecular genetic testing, phenotypic screening
MeSH terms: Case Reports

One of the most common autosomal dominant disorders is familial hypercholesterolemia (FH), causing premature atherosclerotic cardiovascular diseases and a high risk of death due to lifelong exposure to elevated low-density lipoprotein cholesterol (LDL-C) levels. FH has a proven arsenal of treatments and the opportunity for genetic diagnosis. Despite this, FH remains largely underdiagnosed worldwide. Cascade screening is a cost-effective method for the identification of new patients with FH and the prevention of cardiovascular diseases. It is usually based only on clinical data. We describe a 48-year-old index patient with a very high LDL-C level without controlled guidelines-based medication, premature atherosclerosis, and a rare variant in the low-density lipoprotein receptor (LDLR) gene. Phenotypic cascade screening identified three additional FH relatives, namely the proband's daughter, and two young grandsons. The genetic screening made it possible to rule out FH in the proband's younger grandson. This clinical case demonstrates that genetic cascade screening is the most effective way of identifying new FH cases. We also first described in detail the phenotype of patients with a likely pathogenic variant LDLR-p.K223_D227dup.
Non-functioning paraganglioma of the urinary bladder: A case report and review of the literature
Authors: Yongqing Lai, Duqun Chen, Zuhu Yu, Liangchao Ni, Shangqi Yang
Journal: Oncol Lett (2014)
Keywords: paraganglioma, prognosis, therapeutics, urinary bladder

Paragangliomas are extra-adrenal tumors of the autonomic nervous system and may be found within the skull base, neck, mediastinum and periaortic region. Paragangliomas of the urinary bladder are rare, and non-functioning bladder paraganglioma is even rarer and not easily recognized. Histological examination is often key in leading to a definitive diagnosis. The current report presents a case of a 28-year-old female with urinary bladder paraganglioma. The patient presented with no classical signs and symptoms, and these were only appreciated following histological examination of a transurethral resection specimen that elucidated the correct diagnosis. In the present report, the clinical features, diagnosis, management and pathological observations of paraganglioma of the urinary bladder are discussed.