Results 41 to 50 of about 69,694 (262)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Determinants of minute ventilation-carbon dioxide production relationship in Chagas cardiomyopathy

Revista da Sociedade Brasileira de Medicina Tropical, 2021
INTRODUCTION: The minute ventilation-carbon dioxide production relationship (VE/VCO2 slope) is among the main prognostic factors of Chagas cardiomyopathy whose determinants remain unknown. METHODS: Seventy-eight patients with Chagas cardiomyopathy were
Lucas Frois Fernandes Oliveira, Janaina Martins Andrade, Pedro Henrique Scheidt Figueiredo, Matheus Ribeiro Ávila, Whesley Tanor Silva, Marcus Vinicius Accetta Vianna, Renato Guilherme Trede Filho, Henrique Silveira Costa, Manoel Otávio Costa Rocha, Vanessa Pereira Lima   +9 more
doaj   +1 more source

Dilated cardiomyopathy in children

Journal of the American College of Cardiology, 1988
Dilated cardiomyopathy is a rare but serious disease in children. Clinical manifestations are primarily due to impaired systolic function of the left ventricle. Diagnostic evaluation is important to exclude masquerading cardiac abnormalities and to assess the degree of myocardial dysfunction.
openaire   +2 more sources

Refining a preclinical model of viral myocarditis in accordance with biotech standards

Animal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source

Normal Coronary Artery Patient Presenting with Left Ventricular Aneurysm

Case Reports in Medicine, 2011
Left ventricular aneurysm (LVA) is one of the most important complications of myocardial infarction LVA is strictly defined as a distinct area of abnormal left ventricular diastolic contour with systolic dyskinesia or paradoxical bulging.
Hakan Altay, Cihan Altin, Ali Çoner, Haldun Muderrisoglu   +3 more
doaj   +1 more source

Research Progress and Forensic Identification of Alcoholic Cardiomyopathy [PDF]

Fayixue Zazhi, 2019
With the rapid development of the social economy in China, the incidence of diseases caused by excessive drinking is gradually increasing as well. Alcoholic cardiomyopathy refers to long-term high intake of ethanol, and has typical dilated cardiomyopathy
ZHANG Tian-yi, GAO Wei-min, CAO Zhi-peng,et al.
doaj   +1 more source

TWEAK/Fn14 Signaling Drives Oxidative Cardiac Injury in Systemic Lupus Erythematosus: Evidence From Patient Biomarker Studies, Lupus Mouse Models, and Cardiomyocyte Assays

Arthritis &Rheumatology, EarlyView.
Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/fibroblast growth factor–inducible 14 (Fn14) signaling in SLE‐related ...
Yale Liu, Zhu Yan, Xueting Peng, Meixuan Li, Juan Wang, Yan Zhang, Xiaoqian Hu, Mingzhu Zhou, Kaixuan Ren, Dan Zhang, Xingyi Guo, Yumin Xia, Huanhuan Huo   +12 more
wiley   +1 more source

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Wilms Tumor with dilated hypertensive cardiomyopathy, acute myocarditis, pulmonary edema, and heart failure

Urology Case Reports, 2020
An 11-month-old boy with unilateral Wilms tumor had an unusual presentation, with dilated hypertensive cardiomyopathy, acute myocarditis, pulmonary edema, and congestive heart failure secondary to the Wilms tumor and requiring intensive care.
Jae Min Chung, Sang Don Lee
doaj   +1 more source