Results 31 to 40 of about 27,859 (207)
Frontiers in Pediatrics, 2023 BackgroundSimple Congenital Heart Defects such as septal defects constitute a large proportion of Congenital Heart Defects. New research has demonstrated more co-morbidities than previously thought. In particular, co-morbidities involving neurocognitive,
Sara Hirani Lau-Jensen +5 more
doaj +1 more source
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 +3 more
wiley +1 more source
Atrial septal defect in adulthood: a new paradigm for congenital heart disease
European Heart Journal, 2021 AbstractAtrial septal defects (ASDs) represent the most common congenital heart defect diagnosed in adulthood. Although considered a simple defect, challenges in optimal diagnostic and treatment options still exist due to great heterogeneity in terms of anatomy and time-related complications primarily arrhythmias, thromboembolism, right heart failure ...
Margarita Brida +8 more
openaire +3 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Cardiac morphological and morphometric analysis of Ardea alba
The Anatomical Record, EarlyView.Abstract Ardea alba (Linnaeus, 1758) is a widely distributed heron species whose cardiovascular morphology remains poorly described. This study aimed to characterize the cardiac morphology and morphometry of adult A. alba. Ten specimens were analyzed using radiographic, morphometric, histological, scanning electron microscopy, and three‐dimensional ...
Julia Vaz Feio +5 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract Cells derived from the endocardium, epicardium, cardiac neural crest, and second heart field play a critical role in the formation of the valvuloseptal structures of the heart. Previous studies have shown that the expression of the transcription factor SOX9 in these cell populations is essential in the regulation of this process.
Hannah G. Tarolli +6 more
wiley +1 more source
Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report
Journal of Medical Case Reports, 2018 Background Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs ...
Ruo-hao Wu +9 more
doaj +1 more source
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 +12 more
wiley +1 more source
Echo Research and Practice, 2018 This review article will guide the reader through the basics of echocardiographic assessment of congenital left to right shunts in both paediatric and adult age groups.
Antigoni Deri MD +1 more
doaj +1 more source
British Journal of Clinical Pharmacology, EarlyView.Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin +7 more
wiley +1 more source