OpenMed/multicare-articles huggingface dataset:
Incidental histological diagnosis of acute rheumatic myocarditis: case report and review of the literature
Authors: Guilherme S Spina, Roney O Sampaio, Carlos E Branco, George B Miranda, Vitor E E Rosa, Flávio Tarasoutchi
Journal: Front Pediatr (2014)
Keywords: aschoff’s body, acute rheumatic fever, cardiac surgery for valvular heart disease, diagnosis of myocarditis, rheumatic fever, rheumatic myocarditis, valvular heart disease

Rheumatic fever (RF) remains endemic in many countries and frequently causes heart failure due to severe chronic rheumatic valvular heart disease, which requires surgical treatment. Here, we report on a patient who underwent an elective surgical correction for mitral and aortic valvular heart disease and had a post-operative diagnosis of acute rheumatic carditis. The incidental finding of Aschoff bodies in myocardial biopsies is frequently reported in the nineteenth-century literature, with prevalences as high as 35%, but no clinical or prognostic data on the patients is included. The high frequency of this finding after cardiac surgery in classical reports suggests that these patients were not using secondary prophylaxis for RF. We discuss the clinical diagnosis of acute rheumatic myocarditis in asymptomatic patients and the laboratorial and imaging methods for the diagnosis of acute rheumatic carditis. We also discuss the prognostic implications of this finding and review the related literature.
Impact of creative workshops in an institutionalized patient with moderate/severe cognitive impairment with behavioral disorders: A case report
Authors: Nuria Bravo-Garrido, Juan Francisco Morán-Cortés, Valle Coronado-Vázquez, María Del Valle Ramírez-Durán
Journal: Front Psychiatry (2023)
Keywords: case report, cognitive dysfunction, conduct disorder, cooking, creativity, intellectual disability, pica
MeSH terms: Case Reports

The Hospital Care Unit for individuals with intellectual disabilities and behavioral disorders provides comprehensive care in a controlled and video-surveyed facility that minimizes access to potentially manipulative materials during aggression or pica episodes. The patient was admitted to the unit due to issues including ingestion of non-edible fluids, aggression toward staff and other patients, and self-injury. All patients participated in occupational activities led by an occupational therapist from Monday to Friday from 10 a.m. to 11:30 a.m. In addition, creative workshops such as cinema forums and cooking workshops were held on some afternoons. During the analyzed period from January to June 2022, the patient experienced three episodes of pica, 14 assaults toward staff, and eight toward peers. All of these incidents occurred after dinner and were triggered either by the inability to eat dessert or by refusal to brush teeth afterward. In our case study, the implementation of creative workshops such as cooking had a positive effect on decreasing instances of pica and aggression. These workshops slightly improved participation in other occupational therapy activities and stabilized the patient's behavior, increasing the likelihood of her being able to return to her habitual residence.
Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis
Authors: Yueyun Lan, Sheng Yi, Mengting Li, Jinqiu Wang, Qi Yang, Shang Yi, Fei Chen, Limei Huang, Yiyan Ruan, Yiping Shen, Jingsi Luo, Zailong Qin
Journal: Front Genet (2021)
Keywords: na + /h + exchanger 6, slc9a6 gene, christianson syndrome, developmental delay, electroencephalography, epilepsy
MeSH terms: Case Reports

Christianson syndrome (CS) is an X-linked neurodevelopmental syndrome characterized by microcephaly, epilepsy, ataxia, and severe generalized developmental delay. Pathogenic mutations in the SLC9A6 gene, which encodes the Na+/H+ exchanger protein member 6 (NHE6), are associated with CS and autism spectrum disorder in males. In this study, whole exome sequencing (WES) and Sanger sequencing revealed a novel de novo frameshift variant c.1548_1549insT of SLC9A6 in a 14-month-old boy with early-onset seizures. According to The American College of Medical Genetics and Genomics (ACMG)/the Association for Molecular Pathology (AMP) guidelines, the variant was classified as pathogenic. The proband presented with several core symptoms of typical epilepsy, including microcephaly, motor delay, distal muscle weakness, micrognathia, occasional unprovoked laughter, swallowing and speech difficulties. Electroencephalography (EEG) showed spikes-slow waves in frontal pole, frontal, anterior temporal and frontal midline point areas. Gesell development schedules (GDS) indicated generalized developmental delay. We also summarized all the reported variants and analyzed the correlation of genotype and phenotype of CS. Our study extends the mutation spectrum of the SLC9A6 gene, and it might imply that the phenotypes of CS are not correlated with SLC9A6 genotypes.
Minimal change disease and COVID-19 vaccination: Four cases and review of literature
Authors: Preeti Chandra, Marisa Roldao, Cinthia Drachenberg, Paulo Santos, Naoki Washida, Alexander Clark, Bipin Bista, Ryunosuke Mitsuna, Angelito Yango
Journal: Clin Nephrol Case Stud (2022)
Keywords: covid-19 vaccine, glomerular disease, graft versus host disease, minimal change disease, nephrotic syndrome
MeSH terms: Case Reports

There have been multiple reports of the development of de novo or relapse of glomerular diseases after SARS-CoV-2 vaccination. While most of them have occurred with the mRNA vaccines (Pfizer/BioNTech and Moderna/NIAID), there also have been reports associated with the vector vaccines (AstraZeneca/ChAdOx1-S) vaccine and the inactivated vaccines. Minimal change disease (MCD) is one of the more common glomerular diseases noted to have been associated with the COVID-19 vaccination. We report here 4 more cases of MCD occurring in association with the COVID-19 vaccine, 3 were de novo cases, and 1 case had a relapse of MCD. We also review all the 41 cases described thus far in the literature and review potential common pathways activated by the vaccination that play a role in the pathogenesis of MCD.
Ventricular Rupture due to Myocardial Infarction without Obstructive Coronary Artery Disease
Authors: Hendrik Lapp, Marcel Keßler, Thomas Rock, Franz X Schmid, Dong-In Shin, Alexander Bufe, Heinrich G Klues, Christian Blockhaus
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

An 87-year-old woman presenting with myocardial infarction and ST-segment elevation in the electrocardiogram suffered from pericardial effusion due to left ventricular rupture. After ruling out obstructive coronary artery disease and aortic dissection, she underwent cardiac surgery showing typical infarct-macerated myocardial tissue in situ. This case shows that even etiologically unclear and small-sized myocardial infarctions can cause life-threatening mechanical complications.
A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation
Authors: Ana Isabel Sánchez, Jorge Armando Rojas
Journal: Case Rep Genet (2017)
MeSH terms: Case Reports

Nicolaides-Baraitser syndrome (NCBRS) is a rare and well-recognized entity that was first described in 1993, with a prevalence that is currently not known. It is recognized as a distinctive entity, with some variability in its signs and symptoms. The most important characteristics include intellectual disability, peculiar facial features including sparse scalp hair, coarse facial features, low frontal hairline, and microcephaly, and seizures. Additional features may include epicanthic folds, thin upper lip vermilion with thick lower lip vermilion, skeletal abnormalities, and severe language impairment. The disorder is inherited in an autosomal dominant manner caused by de novo mutations in the SMARCA2 gene, with most being missense mutations. We report a young adult patient with NCBRS and, to our knowledge, the first case report of the syndrome in Latin America with a confirmed molecular diagnosis and a mild-to-moderate phenotype.
3D Laparoscopy-Assisted Operation to Adult Intussusceptions During Perioperative Period of Liver Transplantation: Case Report and Literature Review
Authors: Qing Gao, Shuo Yuan, Yang Li, Chao Chen, Xiaosun Liu, Jiren Yu
Journal: Front Surg (2021)
Keywords: adult intussusception, case report, intestinal dysfunction, laparoscopy, perioperative period
MeSH terms: Case Reports

Adult intussusception during the perioperative period is defined as an extremely rare condition, especially when it emerges within short intervals of laparotomy, which may be explained as an unphysiological peristaltic function of the bowel without any lead points. Accurate diagnosis and therapeutic schedule predict a satisfactory outcome. Here, we introduce the case of a 32-year-old man who had symptoms of abdominal pain, no gas emission, and defecation shortly after liver transplantation. Intussusception was definitely diagnosed by abdominal CT, and then reduction was operated successfully by three-dimensional laparoscopy-assisted operation. There were no other complaints, and no secondary lesions were detected during the postoperative rehabilitation process in the hospital and over a follow-up period of 6 months. Relevant literature has been summarized subsequently. A promising minimally invasive surgery along with minimal secondary trauma was presented by laparoscopy in this rare case, providing the potential remedy for perioperative intussusception in the adult.
Variable Clinical Presentations of Riedel's Thyroiditis: Report of Two Cases
Authors: Hamidreza Zakeri, Zahra Kashi
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Riedel's thyroiditis is a rare inflammatory disease of the thyroid gland and has been reported in 0.05% of thyroid surgeries. Herein we report two cases of Riedel's thyroiditis with variable clinical presentations. One of these cases was a 51-year-old man who was presented with hypothyroidism and the other a 17-year-old young male with thyrotoxicosis. In these cases, age may be a determining factor in presenting symptoms and signs, disease process, and response to treatment.
Painless Livedoid Vasculopathy in a Patient with G20210A Prothrombin Gene Mutation
Authors: Aibek E Mirrakhimov, Erwin Velasquez Kho, Alaa Ali
Journal: Case Rep Med (2012)

87 year old Caucasian female with chronic painless non-healing ulcers over malleoli was admitted to the hospital. On a physical examination, there were two bilateral and laterally located malleoli ulcers with no discharge. A thorough work up was done: lower extremities venous and arterial Doppler ultrasound did not show any evidence of venous and arterial disease respectively. Heterozygous G20210A Prothrombin gene mutation was found, and the patient was started on anticoagulation. This case reports highlights a possibility of a painless livedoid vasculopathy presentation in a patient without significant past thrombotic events. Therefore, it is important to consider livedoid vasculopathy in the differential in a patient with painless ulcerative, atrophic and/or nodular skin lesions over the shins and malleoli.
Community Engagement Alliance (CEAL) Against COVID-19 Disparities: Academic-community partnership to support workforce capacity building among Arizona community health workers
Authors: Dulce J Jiménez, Omar Gomez, Ruby Meraz, Amanda M Pollitt, Linnea Evans, Naomi Lee, Matt Ignacio, Katherine Garcia, Richard Redondo, Floribella Redondo, Heather J Williamson, Sabrina Oesterle, Sairam Parthasarathy, Samantha Sabo
Journal: Front Public Health (2023)
Keywords: american indian/indigenous, covid-19 pandemic, latinx/hispanic, academic-community partnership, community health representatives, community health worker (chw), mixed methods
MeSH terms: COVID-19, Research Support, N.I.H., Extramural, Arizona, Capacity Building, Community Health Workers, Humans, Pandemics, Workforce

The COVID-19 pandemic has both highlighted and worsened existing health inequities among communities of color and structurally vulnerable populations. Community Health Workers, inclusive of Community Health Representatives (CHW/Rs) have entered the spotlight as essential to COVID-19 prevention and control. To learn about community experiences and perspectives related to COVID-19 and inform CHW/R workforce capacity building efforts, a series of focus groups were conducted with CHW/Rs throughout Arizona at two time points in 2021. Throughout the data collection and analysis process, researchers and community partners engaged in ongoing and open dialogue about what CHW/Rs on the ground were reporting as priority community concerns, needs, and challenges. Thus, CHW/Rs informed the development of culturally and linguistically relevant health education messages, materials, and training for CHW/Rs. In this community case study, we detail the efforts of partnership between a statewide CHW professional association and an academic research team that facilitated rapid decision-making and knowledge sharing to create community-grounded tools and resources supportive of CHW/R workforce capacity building in the context of the COVID-19 pandemic.
Metronidazole-induced encephalopathy
Authors: Vikash G Lala, Bilal Bobat, Mark Haagensen, Prakash Kathan, Adam Mahomed
Journal: SA J Radiol (2021)
Keywords: corpus callosum lesions, dentate nucleus lesions, metronidazole, metronidazole adverse events, metronidazole-induced cerebellar ataxia, metronidazole-induced encephalopathy, metronidazole-induced neurotoxicity, splenium lesions
MeSH terms: Case Reports

Metronidazole is a widely used antibacterial and antiprotozoal agent for a number of conditions. Whilst its more common gastrointestinal side effects are well known, neurotoxicity remains under-recognised. Both central and peripheral neurological side effects have been described. This report describes a case of radiologically confirmed metronidazole-induced cerebellar ataxia in a cirrhotic patient with a review of the literature. Awareness of this side effect is essential for prompt recognition as early drug withdrawal leads to resolution in the majority of cases.
Delayed Development of Coronary Ostial Stenosis following Surgical Aortic Valve Replacement: A Case Report of Unusual Presentation
Authors: Doosup Shin, Kevin Huang, Igor Sunjic, Michael Berlowitz, Xavier Prida
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Coronary ostial stenosis is a rare but potentially life-threatening complication that occurs in 1%-5% of patients who undergo surgical aortic valve replacement (SAVR). Symptoms typically appear within the first 6 months and almost always within a year after SAVR. We report an unusually delayed presentation of non-ST segment elevation myocardial infarction due to coronary ostial stenosis 22 months after SAVR. A 71-year-old woman underwent uncomplicated SAVR with a bioprosthetic valve in August 2015 for severe aortic stenosis. A preoperative coronary angiogram demonstrated widely patent left and right coronary arteries. In June 2017, the patient presented to the hospital with chest pain. An electrocardiogram demonstrated 1 mm ST segment depression in the anterolateral leads, and serum troponin I level was elevated to 2.3 ng/ml. Diagnostic coronary angiography revealed severe ostial stenosis (99%) of the right coronary artery. A bare-metal stent was successfully placed with an excellent angiographic result, and the patient was asymptomatic at 4 months of follow-up after the procedure. As seen in our case, coronary ostial stenosis should be considered in the differential diagnosis of chest pain or arrhythmia in patients presenting with a history of SAVR, even if the procedure was performed more than 1 year prior to presentation.
Role of DNA Methylation Profile in Diagnosing Astroblastoma: A Case Report and Literature Review
Authors: Giuseppe Petruzzellis, Iside Alessi, Giovanna Stefania Colafati, Francesca Diomedi-Camassei, Andrea Ciolfi, Lucia Pedace, Antonella Cacchione, Andrea Carai, Marco Tartaglia, Angela Mastronuzzi, Evelina Miele
Journal: Front Genet (2019)
Keywords: cns-hgnet-mn1, dna methylation profiling, astroblastoma, brain tumor, next-generation sequencing

Astroblastoma is a rare tumor of the central nervous system (CNS) with uncertain clinical behavior. Recently, DNA methylation profiling has been shown to provide a highly robust and reproducible approach for the classification of all CNS tumors across different age groups. By using DNA methylation profiling, a subset of CNS high-grade tumors with astroblastoma-like morphology characterized by the meningioma 1 gene (MN1) rearrangements, has been identified; they were termed "CNS high-grade neuroepithelial tumors with MN1 alteration" (CNS-HGNET-MN1). Here, we describe a case of CNS-HGNET-MN1 diagnosed by DNA methylation profiling, using Illumina Infinium HumanMethylationEPIC BeadChip (EPIC), that offers the opportunity to conduct a brief literature review. The patient presented with an episode of partial seizures involving the right hemisoma. A gross total resection was performed. No other treatment was proposed in light of the histological and molecular findings. After 21 months, the patient is disease-free in good clinical conditions. Also in view of this case, we recommend DNA-methylation profiling as an important tool for diagnosis and more effective patient stratification and management.
A Unique Case of Malignant Pleuropericardial Effusion: HHV-8-Unrelated PEL-Like Lymphoma-A Case Report and Review of the Literature
Authors: Farhan Mohammad, Muhammad Neaman Siddique, Faraz Siddiqui, M Popalzai, Masoud Asgari, Marcel Odaimi
Journal: Case Rep Oncol Med (2014)

Primary effusion lymphoma (PEL) or body cavity lymphoma is a rare type of extra nodal lymphoma of B-cell origin that presents as lymphomatous effusion(s) without any nodal enlargement or tumor masses. It belongs to the group of AIDS related non-Hodgkin's lymphomas. First described in 1996 in HIV infected individuals who were coinfected with Kaposi's sarcoma-associated herpesvirus (KSHV) or HHV-8 virus, it was included as a separate entity in WHO classification of tumors of hematopoietic and lymphoid tissue in the year 2001. The definition included association with HHV-8 virus as a mandatory diagnostic criterion. However, cases were later reported where PEL-like disease process was diagnosed in HHV-8 negative patients. This was eventually recognized as a rare but distinct entity termed as "HHV-8-unrelated PEL-like lymphoma". Herein, we are reporting a case of an elderly patient who presented with a large pleuropericardial effusion and was eventually diagnosed with this entity. Till date, only around 50 cases of HHV-8-unrelated PEL-like lymphoma have been reported and our case being EBV, HIV, and Hepatitis C negative makes it very unique and rare occurrence. We are also presenting a review of relevant literature focused mainly on comparing outcomes in patients treated with and without chemotherapy.
Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree
Authors: Hui Wang, Zhenyu Zhong, Xiuli Wang, Liyun Zheng, Yifan Wang, Shan Wang, Siqi Liu, Hui Li, Ze Guo, Min Gao
Journal: Front Med (Lausanne) (2021)
Keywords: amyloidosis cutis dyschromica, dermoscopy, mutation, non-invasive techniques, reflectance confocal microscopy
MeSH terms: Case Reports

Background: Amyloidosis cutis dyschromica (ACD) is a rare type of primary localized cutaneous amyloidosis. Non-invasive techniques can provide important clues for early diagnosis. Objectives: To highlight the characteristic imaging changes of ACD under dermoscopy and reflectance confocal microscopy (RCM), investigate gene mutations in a Chinese Han pedigree of ACD, and analyze the genotype-phenotype correlation. Methods: Dermoscopy and RCM examinations were completed together for the pedigree, and the imaging characteristics were described. The diagnosis of ACD was confirmed by pathological examination. Sequencing was performed followed by bioinformatics and genotype-phenotype correlation. ACD-related articles published on PubMed between January 1970 and March 2021 were reviewed and summarized. Results: In ACD, dermoscopy showed patchy white hypopigmentation and brownish spots, stripes, or hyperpigmented blotches and patches. RCM showed a highly refractive substance with clumpy, dotted, and linear structures inside the papillary dermis. Sequencing identified glycoprotein non-metastatic melanoma protein B (GPNMB) missense mutations [c.393T>G (p.Y131X; NM_001005340.2)] and a frameshift deletion mutation [c.719_720delTG (p.V240fs; NM_001005340.2)]. The ANNOtate VARiation (ANNOVAR) software predicted that c.393T>G is a pathogenic mutation. The literature review found 14 mutations, namely, 5 (35.7%) frameshift mutations, 4 (28.6%) non-sense mutations, 4 (28.6%) missense mutations, and 1 (7.1%) splice site mutation. Blisters and epidermolysis were observed in several cases, but there was no significant association between clinical manifestations and mutations in ACD. Conclusions: This study was the first to combine dermoscopy and RCM to describe ACD. Two GPNMB gene mutations were reported in a Chinese ACD pedigree. The genotype-phenotype correlation was analyzed for the first time; however, there was no significant correlation.
Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review
Authors: Xueting Li, Ruofei Chen, Mingwei Chen
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

The present study reported clinical characteristics and the results of gene mutation analysis of 3 Chinese patients with Gitelman syndrome (GS). Three patients manifested with normal blood pressure, recurrent hypokalemia, and metabolic alkalosis. Only case 2 had obvious hypomagnesemia. Gene sequencing showed a compound heterozygous mutation in SCL12A3 in case 1 and a homozygous mutation in SCL12A3 in case 2. Heterozygous mutations in SCL12A3 and CLCNKB were found in case 3. Then, the literature was reviewed. The keyword "Gitelman syndrome" was inputted into the PubMed, Wanfang Database, and CNK to search all Chinese patients with GS diagnosed by gene mutations and to extract complete clinical data from December 1998 to 2018. Finally, a total of 124 cases of GS were included. No significant differences in the levels of serum potassium and magnesium were observed among the different gene mutations, and the serum magnesium levels in adults were lower than those of the juvenile. GS with reduced blood magnesium had a serious clinical phenotype. Therefore, GS had a diverse phenotype, and its final diagnosis required genetic profiling. The relationship of gene mutation and clinical phenotype needed further study.