Results 111 to 120 of about 346,076 (314)
The myocardial and coronary histopathology and pathogenesis of hypoplastic left heart syndrome [PDF]
, 2015 Hypoplastic left heart syndrome has the greatest mortality rate among all CHDs and without palliation is uniformly fatal. Despite noble efforts, the aetiology of this syndrome is unknown and a cure remains elusive.
Cole, Charles R, Eghtesady, Pirooz
core +2 more sources
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim +8 more
wiley +1 more source
Recent Trends in Metabolomics by NMR Spectroscopy
Angewandte Chemie, EarlyView.AI tools were applied to analyze more than 5 000 publications indexed in Scopus (2018–2025), identifying key trends and research directions in NMR‐based metabolomics. The artificial intelligence‐assisted workflow classified papers into six main fields of application, human health, food and nutrition, veterinary science, plants, environment, and ...
Giorgio Di Paco +6 more
wiley +2 more sources
Computed tomography of coronary artery anomaly : case report [PDF]
, 2009 Background: Anomalies of coronary vessels can be described as varies group of congenital heart disease, which can have different level of clinical manifestation and changeable pathophysiological mechanisms.
Chojnacki, Mariusz +3 more
core
Bilateral multiple coronary artery fistulae with angina pectoris and syncope [PDF]
, 2015 Coronary artery fistulae (CAF) are rare cardiac anomalies. They frequently arise from the right coronary artery (RCA) with fistulae originating from the left anterior descending artery (LAD) or from multiple arteries being less common.
Bos, Ruud R. M. +4 more
core +2 more sources
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and
Robyn E. Wootton +217 more
wiley +1 more source
Anomalous Origin of Right Coronary Artery from the Left Anterior Descending Artery: A Case Report
مجله علمی دانشگاه علوم پزشکی کردستان, 2022 Background and Aim: Anomalous origin of the right coronary artery from the left anterior descending artery is extremely rare. It is usually asymptomatic but can be associated with a risk of myocardial ischemia and sudden death.
Behnam Shakerian, Mohammad Jebelli
doaj
Brazilian Journal of Cardiovascular Surgery, 2014 Complete arterial revascularization for the right coronary artery is underused mainly due to technical issues. Herein we report on a new approach for complete arterial revascularization of arterial revascularization for the right coronary artery branches.
Mathias H. Aazami +3 more
doaj +1 more source