Results 31 to 40 of about 50,118 (258)

Fate of aortic regurgitation after isolated repair of ventricular septal defect with concomitant aortic regurgitation in childrenCentral MessagePerspective

open access: yesJTCVS Open, 2023
Objectives: The aim of the study was to evaluate the course of aortic valve regurgitation in patients with preoperative aortic valve regurgitation and ventricular septal defect who underwent repair of the ventricular septal defect without aortic valve ...
Syed M. Bukhari, MD   +8 more
doaj   +1 more source

Acquired ventricular septal defect

open access: yesThe Journal of Thoracic and Cardiovascular Surgery, 1983
The past 9 years' experience with ventricular septal rupture complicating myocardial infarction has been reviewed. Thirty-six patients were treated surgically, with 10 early deaths (28%) and one late death, for an 8 year actuarial survival rate of 63%. The mortality was highest for those defects which followed inferior infarction, 38% compared with 13%
D J, Keenan   +5 more
openaire   +2 more sources

ELABELA Targets Mitochondria to Modulate Heart Development

open access: yesAdvanced Science, EarlyView.
The role of peptide ELABELA (ELA) in cardiomyocyte apoptosis and congenital heart disease (CHD) is unclear. ELA deficiency caused cardiomyocyte apoptosis and CHD. A novel ELA‐APJ‐AKT‐BCL2/BAX axis in regulating mitochondrial function and contributing to CHD pathogenesis was established.
Jian Wang   +22 more
wiley   +1 more source

Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD)

open access: yesThe Turkish Journal of Pediatrics, 2017
Atrioventricular septal defect is a complex congenital heart defects (CHD) with a prevalence of approximately 4% of all CHDs. Transitional form of atrio-ventricular septal defect (tAVSD) associates ostium primum atrial septal defect, common ...
Ihssane El-Bouchikhi   +5 more
doaj   +1 more source

Leonurine Ameliorates Doxorubicin‐Induced Cardiotoxicity via STING/NF‐κB/NLRP3 Inflammasome Signaling Pathway

open access: yesAdvanced Science, EarlyView.
ABSTRACT Doxorubicin‐induced cardiomyopathy (DIC) remains a dose‐limiting clinical challenge. This study reveals that cardiac vascular endothelial cells (CVECs) act as initial sensors of doxorubicin cardiotoxicity: circulating doxorubicin activates the cGAS‑STING pathway in CVECs, triggering NLRP3 inflammasome‑mediated pyroptosis and release of ...
Wang Jun   +10 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

Size of atrial septal defect after balloon atrial septostomy does not correlate with immediate improvement in oxygenation

open access: yesWorld Journal of Pediatric Surgery, 2021
Objective Transposition of great arteries is a common cyanotic heart defect. Balloon atrial septostomy aims to improve circulatory mixing and oxygenation.
Kartik Sehgal, Kunal Sehgal, Suraj Varma
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Transcatheter closure of doubly committed subarterial ventricular septal defect: Early to one-year outcome

open access: yesInternational Journal of Cardiology Congenital Heart Disease, 2021
Background: The report of transcatheter doubly committed subarterial ventricular septal defect closure is limited. The objective was to evaluate the efficacy and outcome of transcatheter closure of doubly committed subarterial ventricular septal defect ...
Rahmat Budi Kuswiyanto   +4 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican 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

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