Results 31 to 40 of about 18,668 (219)
Objective: Atrioventricular valvar regurgitation in patients with single ventricles is associated with worse outcomes. Valve repair or replacement has been undertaken in an attempt to reduce mortality and morbidity.
Mehar Hoda, MD +3 more
doaj +1 more source
Medical Therapies for Heart Failure in Hypoplastic Left Heart Syndrome
Significant surgical and medical advances over the past several decades have resulted in a growing number of infants and children surviving with hypoplastic left heart syndrome (HLHS) and other congenital heart defects associated with a single systemic ...
Angela N. Baybayon-Grandgeorge +3 more
doaj +1 more source
Background: Fetal balloon atrial septoplasty (BAS) is performed through the restrictive foramen ovale in fetal cases with established hypoplastic left heart syndrome (HLHS) and an intact or highly restrictive atrial septum (RAS).
Ai Zhang +4 more
doaj +1 more source
BackgroundThis study investigated the volume and duration of pleural and mediastinal effusions following extracardiac total cavopulmonary connection, as well as preoperative risk factors and their impact on outcome.Materials and methodsA total of 210 ...
Paul Philipp Heinisch +17 more
doaj +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
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
Background Preliminary phase I clinical trial results revealed that autologous umbilical cord blood-derived mononuclear cells (UCB-MNCs) preserved right ventricular cardiac function.
Carlos Gallego-Navarro +10 more
doaj +1 more source
The development and translation of regenerative medicine approaches for the treatment of hypoplastic left heart syndrome (HLHS) provides a promising alternative to the current standard of care.
Christopher K. Breuer +2 more
core +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
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
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source

