OpenMed/multicare-articles huggingface dataset:
A peculiarly characterised case of isoniazid-induced pellagra- 2 Ds and a C: a case report
Authors: Chishiba Kabengele, Hellen M'hango, Diana Mweemba, Malan Malumani
Journal: Pan Afr Med J (2021)
Keywords: pellagra, case report, isoniazid-induced pellagra, niacin deficiency, photosensitive dermatitis
MeSH terms: Antitubercular Agents / adverse effects, Isoniazid / adverse effects, Pellagra / chemically induced, Case Reports, Adult, Anti-HIV Agents / administration & dosage, Antitubercular Agents / administration & dosage, Constipation / etiology, Dementia / etiology, Dermatitis / etiology, Female, HIV Infections / drug therapy, Humans, Isoniazid / administration & dosage, Niacin / administration & dosage, Niacin / deficiency, Pellagra / diagnosis, Tuberculosis / prevention & control, Anti-HIV Agents, Antitubercular Agents, Niacin, Isoniazid

Niacin or tryptophan deficiency causes pellagra. Isoniazid interferes with the absorption of niacin and individuals on Isoniazid (INH) are at risk of pellagra. Isoniazid preventive therapy (IPT) is the administration of isoniazid to immunosuppressed individuals to prevent active tuberculosis (TB). IPT, in sub-Saharan Africa, the region worst hit by HIV and with a high TB prevalence, is recommended. A 40-year-old, HIV+ Zambian woman on Antiretroviral therapy for five years and IPT for three months presented with a four-day history of constipation, generalised body weakness and irrelevant talk. She complained of a generalised rash, sloughing off, and darkening of the skin on the face, neck, forearms, and dorsum of both feet. A physical examination revealed features of pellagra, and rapid response to oral niacin reaffirmed the diagnosis of pellagra. Unlike typical cases of pellagra presenting with the classic 3 Ds of Diarrhoea, Dementia and Dermatitis, our patient presented with constipation instead of diarrhoea. A consideration of Pellagra in HIV+ patients on IPT whose diet is mostly maize-based will be beneficial, even if the classic 3 Ds of diarrhoea, dementia, and dermatitis are not wholly present. A timely diagnosis and prompt treatment of pellagra can be lifesaving.
Coronavirus disease-19 (COVID-19) associated with acute pancreatitis: case report
Authors: El Mehdi Simou, Mounir Louardi, Imane Khaoury, Med Amine Abidi, Akram Mansour, Aymane El Louadghiri, Kawtar Fahmaoui, Hanane Ezzouine, Boubaker Charra
Journal: Pan Afr Med J (2020)
Keywords: covid-19, sars-cov-2, acute pancreatitis, intensive care
MeSH terms: COVID-19 / complications, Pancreatitis / virology, Case Reports, Aged, Fatal Outcome, Humans

The SARS-CoV-2 primarily attacks the respiratory system and the most common symptoms include cough, shortness of breath, and fever. However, its tropism for the digestive system has been demonstrated and its clinical digestive manifestations are increasingly recognized. Nevertheless, little attention has been paid to pancreatic lesions included in SARS-CoV-2 infection. This case describes the presentation of acute pancreatitis as a complication associated with SARS-CoV-2 infection and the importance of looking for this complication in any patient with COVID-19. Data was collected from a patient admitted with COVID-19 to intensive care in July 2020. The patient was diagnosed with acute pancreatitis associated with SARS-CoV-2. Other causes of acute pancreatitis were excluded for both patients (including alcohol, obstruction/gallstones, drugs, trauma, hypertriglyceridemia, hypercalcemia). This case highlights acute pancreatitis as a complication associated with COVID-19 and highlights the importance of measuring lipasemia and performing an abdominal computed tomography (CT) scan in patients with COVID-19.
Esophageal adenocarcinoma in Barrett's esophagus after sleeve gastrectomy: Case report and literature review
Authors: Lionel El Khoury, Rosa Benvenga, Rodolfo Romero, Regis Cohen, Joel Roussel, Jean-Marc Catheline
Journal: Int J Surg Case Rep (2018)
Keywords: barrett’s esophagus, esophageal adenocarcinoma, gastroesophageal reflux disease, laparoscopic sleeve gastrectomy

Introduction:
Sleeve gastrectomy (SG) has become one of the most dramatically increasing bariatric procedures worldwide due to its excellent results and impact on the obesity pandemic. Morbid obesity is known to increase the risk of esophageal adenocarcinoma. However, the evolution of gastroesophageal reflux disease (GERD) along with Barrett's esophagus (BE) after SG is of concern since there is little data available. We present a case of esophageal adenocarcinoma after SG with known intestinal metaplasia on preoperative gastroscopy.
Case presentation:
We report a case of a 55 years old female patient who presented lower esophageal adenocarcinoma three years after complicated SG with known preoperative BE without dysplasia detected by gastroscopy. Multidisciplinary decision suggested treatment by endoscopic mucosectomy. The endoscopic control at one year did not highlight tumoral recurrence but still BE without dysplasia.
Discussion:
Literature review regarding the evolution of BE after SG is poor and the relation between SG and the development of subsequent esophageal cancer isn't clear yet.
Conclusion:
Preoperative endoscopy should be performed in order to detect GERD, BE, and potential carcinomas of the upper gastrointestinal tract before undergoing bariatric surgery. The long-term monitoring after SG is essential.
Pachydermodactyly treated with tranilast in a young girl
Authors: Chikahisa Higuchi, Tetsuya Tomita, Hideki Yoshikawa
Journal: Case Rep Orthop (2014)

Introduction. Pachydermodactyly is a rare disease with asymptomatic swelling of proximal interphalangeal joints. This disorder should be considered in the differential diagnosis of juvenile idiopathic arthritis or rheumatoid arthritis. However, pachydermodactyly is not well recognized by many orthopaedic surgeons and rheumatologists. Case Presentation. We report herein a case of a 13-year-old girl with pachydermodactyly. She presented to our clinic with symmetrical swelling of digits II through V without functional loss for the last 4 years. X-ray examination demonstrated no bone or joint destruction and magnetic resonance images showed only thickened skin tissues. No inflammatory signs were seen with laboratory blood tests. We reached a diagnosis of pachydermodactyly by exclusion. We had administered tranilast to her for 6 months and her symptom slightly improved. Conclusion. It is important to recognize pachydermodactyly and be able to differentiate it from other causes of PIP joint swelling such as rheumatoid arthritis, although pachydermodactyly is rare and benign. Physicians including orthopaedists and rheumatologists should make a prompt diagnosis to avoid unnecessary investigations and prevent the patient from receiving inappropriate treatment with steroids or cytotoxic agents. On the other hand, tranilast might be an effective drug to pachydermodactyly.
Relapsing Neurological Complications in a Child With ATP1A3 Gene Mutation and Influenza Infection: A Case Report
Authors: Raffaella Pisapia, Nicolina Capoluongo, Giulia Palmiero, Carlo Tascini, Carolina Rescigno
Journal: Front Neurol (2021)
Keywords: atp1a3 gene mutations, case report, differential diagnosis, encephalopathy, influenza
MeSH terms: Case Reports

Mutations in the ATP1A3 gene encoding the α3 subunit of Na+/K+-ATPase are associated with different neurological manifestations that may be elicited by febrile episodes. A recently described phenotype, linked to the p.Arg756Cys mutation, is clinically characterized by Relapsing Encephalopathy with Cerebellar Ataxia (RECA). In our case, a diagnosis of RECA has been established, and despite an alternative, reasonable cause had been already identified. We describe the case of a child with two recurrent episodes, 2 years apart, of hypotonia and ataxia. In both episodes, a laboratory-confirmed influenza virus infection suggested the diagnosis of influenza-associated encephalopathy. After the second episode, a search for genetic mutations was performed, and ATP1A3 mutation associated to RECA was found. After both episodes, the child was discharged after partial improvement of neurological conditions. The diagnosis of encephalopathy in children is often challenging. A genetic predisposition to neurological decompensation should be suspected in case of recurrent episodes, even if an alternative diagnosis has been established. Indeed, febrile infections may only represent the trigger of neurological involvement. In these patients, the knowledge of a genetic predisposing factors may help in the prevention of neurological episodes by the prompt use of anti-pyrectics and preventive measures as appropriate vaccination.
Gastric Pseudomelanosis: An Uncommon Finding
Authors: John Samies, Ruchit N Shah, Michelle Pramick, Alberto Unzueta
Journal: Case Rep Gastrointest Med (2022)
MeSH terms: Case Reports

Gastric pseudomelanosis is a benign condition that has been characterized by pigment deposition within subepithelial macrophages inside the stomach wall. Occurrence of the condition is rare, with pseudomelanosis occurring more often within the duodenal mucosa. Few cases have reported pseudomelanosis within the gastric mucosa. We report a case of an 86-year-old female who presented with worsening iron deficiency anemia concerning for gastrointestinal bleeding. Her endoscopic evaluation was remarkable for a speckled pattern of dark pigmentation within the stomach, confirmed to be pseudomelanosis by histologic evaluation with pigment showing positive staining for iron.
Bilateral Total Knee Replacement in a Patient With Poliomyelitis: A Case Report From Eastern Morocco
Authors: Saber Zari, Otmane Sammouni, Najib Abdeljaouad, Hicham Yacoubi
Journal: Cureus (2023)
Keywords: functional outcomes, genu recurvatum, instability, poliomyelitis, total knee arthroplasty
MeSH terms: Case Reports

Total knee replacement in limbs affected by poliomyelitis can be complicated by anatomical features, narrowing of the intramedullary canal, quadriceps muscle weakness, flexion contractures, and ligament laxity. Total knee arthroplasty (TKA) leads to good results in returning to daily activities and overall functional improvement of these polio patients by restoring near-normal joint mobility, pain relief despite impaired quadriceps strength, and bone and soft tissue defects. Our case report is about a patient with sequelae of bilateral poliomyelitis of the limb benefiting from a hinge-type total knee prosthesis. The rotating hinge total knee prosthesis has certainly been a revolution in the surgical treatment of patients with poliomyelitis, bringing considerable functional improvement. Nevertheless, total knee replacement on poliomyelitis limbs is still a therapeutic challenge, even for the most experienced hands.
Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report
Authors: Huihong Tian, Yi Zhong, Zhihua Liu, Liping Wei, Yanbo Yuan, Yuhu Zhang, Limin Wang
Journal: Front Neurol (2022)
Keywords: etfdh, lipid storage myopathy, multiple acyl-coa dehydrogenase deficiency, riboflavin, whole genome sequencing
MeSH terms: Case Reports

Background:
Lipid storage myopathy (LSM) is an autosomal recessive inherited lipid and amino metabolic disorder with great clinical heterogeneity. Variations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene cause multiple acyl-CoA dehydrogenase deficiency (MADD), and have a manifestation of LSM. Muscle biopsy helps clarify the diagnosis of LSM, and next-generation sequencing (NGS) can be useful in identifying genomic mutation sites. The diagnosis of MADD contributes to targeted therapy.
Case presentation:
We report on a teenager who appeared to have muscle weakness and exercise intolerance at the onset. Before the referral to our hospital, he was unsuccessfully treated with glucocorticoid for suspected polymyositis. The next-generation sequencing of the proband and his parents revealed heterozygous variations, c.365G>A (p.G122D) inherited from the father, c.176-194_176-193del, and c.832-316C>T inherited from the mother in the ETFDH gene. The tandem mass spectrometry identified the mutations to be pathogenic. However, his parents and his younger sister who were detected with a mutation of c.365G>A presented no clinical symptoms. This indicates that the combination of the three compound heterozygous mutations in ETFDH is significant. After MADD was diagnosed, a dramatic clinical recovery and biochemical improvement presented as riboflavin was given to the patient across a week, which further confirmed the diagnosis of MADD.
Conclusion:
Our observations extend the spectrum of ETFDH variants in Chinese the population and reinforce the role of NGS in diagnosis of MADD. Early diagnosis and appropriate treatment of LSM lead to great clinical efficacy and avoid some lethal complications.
Identification of Novel Genes Involved in the Pathogenesis of an ACTH-Secreting Pituitary Carcinoma: A Case Report and Literature Review
Authors: Fuyou Guo, Guoqing Wang, Fang Wang, DingKang Xu, Xianzhi Liu
Journal: Front Oncol (2018)
Keywords: atrx, pten, molecular mechanism, mutant genes, pituitary carcinoma, targeted therapy
MeSH terms: Case Reports

Pituitary carcinomas (PCs) is considerable uncommon entities with a poor prognosis that represents only 0. 1-0.2% of all pituitary tumors. There are fewer than 150 reported cases up to now. In addition, the molecular pathogenesis leading to malignant pituitary transformation remain unclear due to the rarity of PCs. Here we present an uncommon case of ACTH-secreting PCs and explore the gene mutation following pituitary adenoma transformation. Our detailed clinical, histopathological and molecular detection data suggest that novel genes of ATRX and PTEN were implicated in the pathogenesis of PCs by searching Pubmed and the Web of Science databases as well as Cosmic databank. To the best of our knowledge, this is the first documented rare PCs patient with novel gene mutations that included ATRX and PTEN in addition to TP53. Present finding may therefore provide significant information for targeted therapy of PCs.
Tuberculous meningitis
Authors: Shinnosuke Fukushima, Kazuki Ocho, Koji Fujita, Hideharu Hagiya, Fumio Otsuka
Journal: Clin Case Rep (2023)
Keywords: basal meningitis, cerebral infarction, miliary tuberculosis, tuberculous meningitis
MeSH terms: Case Reports

Tuberculous meningitis is possibly complicated with multiple cerebral infarctions and basal meningitis, and the mortality and neurological prognosis is reportedly poor. This case suggested that clinicians should consider tuberculous meningitis as a differential diagnosis of patients with disturbed consciousness in an aging country Japan.
Left Ventricular Noncompaction in a Child with Turner Syndrome
Authors: Snigdha Bhatia, Amna Qasim, Murad Almasri, Luba Frank, Ashraf M Aly
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Congenital heart disease (CHD) may cause a significant comorbidity in patients with Turner syndrome. The commonly reported CHD in these patients includes bicuspid aortic valve and coarctation of the aorta. Left ventricular noncompaction (LVNC) is a rare form of cardiomyopathy that has been reported in literature only three times in adult patients with Turner syndrome. We report the first case of a 6-year-old asymptomatic female with Turner syndrome who was referred for cardiac evaluation after her Turner syndrome diagnosis. Echocardiogram was suspicious for LVNC, which was confirmed on cardiac magnetic resonance imaging.
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype
Authors: Elise M N Ferré, Yunting Yu, Vasileios Oikonomou, Anna Hilfanova, Chyi-Chia R Lee, Lindsey B Rosen, Peter D Burbelo, Sara E Vazquez, Mark S Anderson, Amisha Barocha, Theo Heller, Ariane Soldatos, Steven M Holland, Magdalena A Walkiewicz, Michail S Lionakis
Journal: Front Immunol (2023)
Keywords: autoimmunity, chronic mucocutaneous candidiasis, fam111b, poiktmp, primary immunodeficiency disorders, immunosuppression
MeSH terms: DNA Copy Number Variations, Polyendocrinopathies, Autoimmune, Case Reports, Research Support, N.I.H., Intramural, Autoantibodies, Azathioprine, Cell Cycle Proteins, Humans, Male, Phenotype, Autoantibodies, Azathioprine, FAM111B protein, human, Cell Cycle Proteins

Introduction:
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are rare inherited syndromes resulting from biallelic pathogenic variants in AIRE and heterozygous pathogenic variants in FAM111B, respectively. The clinical diagnosis of APECED and POIKTMP rely on the development of two or more characteristic disease manifestations that define the corresponding syndromes. We discuss the shared and distinct clinical, radiographic, and histological features between APECED and POIKTMP presented in our patient case and describe his treatment response to azathioprine for POIKTMP-associated hepatitis, myositis, and pneumonitis.
Methods:
Through informed consent and enrollment onto IRB-approved protocols (NCT01386437, NCT03206099) the patient underwent a comprehensive clinical evaluation at the NIH Clinical Center alongside exome sequencing, copy number variation analysis, autoantibody surveys, peripheral blood immunophenotyping, and salivary cytokine analyses.
Results:
We report the presentation and evaluation of a 9-year-old boy who was referred to the NIH Clinical Center with an APECED-like clinical phenotype that included the classic APECED dyad of CMC and hypoparathyroidism. He was found to meet clinical diagnostic criteria for POIKTMP featuring poikiloderma, tendon contractures, myopathy, and pneumonitis, and exome sequencing revealed a de novo c.1292T>C heterozygous pathogenic variant in FAM111B but no deleterious single nucleotide variants or copy number variants in AIRE.
Discussion:
This report expands upon the available genetic, clinical, autoantibody, immunological, and treatment response information on POIKTMP.
Case Report: Therapeutic and immunomodulatory effects of plasmapheresis in long-haul COVID
Authors: Dobri D Kiprov, Ahvie Herskowitz, Daehwan Kim, Michael Lieb, Chao Liu, Etsuko Watanabe, Jan C Hoffman, Regina Rohe, Michael J Conboy, Irina M Conboy
Journal: F1000Res (2021)
Keywords: immunomodulation, long haul covid19, adaptive immunity, inflammation, leukocyute subsets, plasmapheresis, proteomics
MeSH terms: COVID-19 / complications, COVID-19 / therapy, Case Reports, Aged, Humans, Leukocytes, Mononuclear, Male, Plasma Exchange, Plasmapheresis, Post-Acute COVID-19 Syndrome

Many patients with COVID-19 experience a range of debilitating symptoms months after being infected, a syndrome termed long-haul COVID. A 68-year-old male presented with lung opacity, fatigue, physical and cognitive weaknesses, loss of smell and lymphocytopenia. After rounds of therapeutic plasma exchange (TPE), the patient returned to normal activities and work. Mechanistically in the patient's peripheral blood mononuclear cells (PBMCs), markers of inflammatory macrophages diminished and markers of lymphocytes, including natural killer (NK) cells and cytotoxic CD8 T-cells, increased. Circulating inflammatory proteins diminished, while positive regulators of tissue repair increased. This case study suggests that TPE has the capacity to treat long-haul COVID.
The Association Between Mycoplasma pneumoniae and Chlamydia pneumoniae, a Life-Threatening Condition in Small Children-A Case Report and a Review of the Literature
Authors: Cristina Oana Mărginean, Lorena Elena Meliţ, Iunius Simu, Maria Oana Săsăran
Journal: Front Pediatr (2020)
Keywords: chlamydia pneumoniae, mycoplasma pneumoniae, child, coinfection, pneumonia
MeSH terms: Case Reports

Mycoplasma pneumoniae (MP) and Chlamydia pneumoniae (CP) are two atypical pathogens that may result in mild, moderate or severe acute respiratory infections. We report the case of a 2 years and 9-month-old male child admitted with prolonged fever, dry cough, and shortness of breath for which he underwent symptomatic treatment. The laboratory tests showed leukocytosis with neutrophilia, anemia, and elevated inflammatory biomarkers and the thoracic radiography revealed pleural effusion raising the suspicion of inferior right pneumonia. Although we the initial evolution was favorable being treated with 3rd class cephalosporin and Oxacillin, on the 8th day of admission the fever and the acute phase reactants levels increased as well as the quantity of the pleural effusion, requiring surgical drainage. We ruled out lung tuberculosis, but we identified positive IgM for both MP and CP. Based on these findings we changed the antibiotic therapy on Levofloxacin for 10 days with favorable evolution. MP and CP are two atypical pathogen that are difficult to be diagnosed due to their slow-growing pattern. Despite their self-limiting feature, the association between them might carry a vital risk in small children, especially in the lack of a proper and timely diagnosis.
Molecular Profiling of a Rare Rosette-Forming Glioneuronal Tumor Arising in the Spinal Cord
Authors: Lucas Tadeu Bidinotto, Cristovam Scapulatempo-Neto, Alan Mackay, Gisele Caravina de Almeida, Bernd Walter Scheithauer, Gustavo Noriz Berardinelli, Raul Torrieri, Carlos Afonso Clara, Leonir Terezinha Feltrin, Marta Viana-Pereira, Marileila Varella-Garcia, Chris Jones, Rui Manuel Reis
Journal: PLoS One (2015)
MeSH terms: Brain Neoplasms / genetics, Brain Neoplasms / metabolism, Spinal Cord, Case Reports, Research Support, Non-U.S. Gov't, Adult, Brain Neoplasms / diagnosis, Brain Neoplasms / pathology, Chromosome Deletion, Exome / genetics, Humans, Magnetic Resonance Imaging, Male

Rosette-forming glioneuronal tumor (RGNT) of the IV ventricle is a rare and recently recognized brain tumor entity. It is histologically composed by two distinct features: a glial component, resembling pilocytic astrocytoma, and a component forming neurocytic rosettes and/or perivascular rosettes. Herein, we describe a 33-year-old man with RGNT arising in the spinal cord. Following an immunohistochemistry validation, we further performed an extensive genomic analysis, using array-CGH (aCGH), whole exome and cancer-related hotspot sequencing, in order to better understand its underlying biology. We observed the loss of 1p and gain of 1q, as well as gain of the whole chromosomes 7, 9 and 16. Local amplifications in 9q34.2 and 19p13.3 (encompassing the gene SBNO2) were identified. Moreover, we observed focal gains/losses in several chromosomes. Additionally, on chromosome 7, we identified the presence of the KIAA1549:BRAF gene fusion, which was further validated by RT-PCR and FISH. Across all mutational analyses, we detected and validated the somatic mutations of the genes MLL2, CNNM3, PCDHGC4 and SCN1A. Our comprehensive molecular profiling of this RGNT suggests that MAPK pathway and methylome changes, driven by KIAA1549:BRAF fusion and MLL2 mutation, respectively, could be associated with the development of this rare tumor entity.
Chest Pain in a Psychiatric Patient Due to Clozapine-Induced Myopericarditis
Authors: James L Laws, Esther Kim, Rebecca Hung, JoAnn Lindenfeld, Richa Gupta
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Drug-induced myocarditis is a rare, but underrecognized complication of clozapine therapy for schizophrenia. We present a case of clozapine-induced myocarditis with recovery of cardiac function after drug cessation and summarize the literature to highlight the variable presentation of this condition.