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Analyzing exosomal miRNA profiles in tetralogy of fallot fetuses' amniotic fluid.
Sci Rep
January 2025
Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, Fujian, China.
Amniotic fluid (AF)-derived exosomal miRNA have been explored as potential contributors to the pathogenesis of Tetralogy of Fallot (TOF). This study aimed to investigate the expression profiles of AF-derived exosomal miRNAs and their potential contribution to TOF development. Exosomes were isolated from AF samples obtained from pregnant women carrying fetuses diagnosed with TOF.
View Article and Find Full Text PDFWhole Exome Sequencing in a Population of Fetuses With Structural Anomalies.
Prenat Diagn
January 2025
Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Objective: To investigate the exome sequencing (ES) detection rate among fetuses with congenital anomalies and describe the rates in the setting of multiple versus isolated anomalies, perinatal autopsy, and family history of a previously affected child.
Methods: A single-center retrospective chart review was conducted on 397 anomalous fetuses that underwent ES from May 2012 through December 2023. Medical record review included demographics, imaging, and genetic testing.
Infantile Dilated Cardiomyopathy in Alström Syndrome.
Cureus
December 2024
Congenital and Pediatric Cardiology, Department of Pediatrics, University Hospital Saint-Luc, Brussels, BEL.
We report two cases of end-stage dilated cardiomyopathy as the initial manifestation of Alström syndrome (ALMS), in infants aged two and five months. This rare monogenic, autosomal, and recessive genetic condition is a multisystem disorder characterized by visual and hearing impairment, cardiomyopathy childhood obesity, and other anomalies. These cases highlight the importance of genetic testing targeting the ALMS1 gene in the assessment of apparently isolated dilated cardiomyopathy.
View Article and Find Full Text PDFIsolated Cleft Foot: A Case Report and Review of Literature.
Indian J Plast Surg
December 2024
Dept. of Burns & Plastic Surgery, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
Cleft foot is a rare congenital anomaly (syndromic/isolated). Although there have been published reports about this anomaly, none has so far described standardized treatment guidelines. In this case report, we describe the details of operative management of an isolated cleft foot in an 8-year-old girl with a brief review of literature, keeping in mind the aims of the treatment, governed by the local culture and preferred footwear design in the Indian scenario.
View Article and Find Full Text PDFAn α7 nicotinic and GABA receptor-mediated pathway controls acetylcholine release in the tripartite neuromuscular junction.
J Physiol
December 2024
Université Paris Cité, CNRS, ENS Paris Saclay, Centre Borelli UMR 9010, Paris, France.
Terminal Schwann cells (TSCs) are capable of regulating acetylcholine (ACh) release at the neuromuscular junction (NMJ). We have identified GABA as a gliotransmitter at mouse NMJs. When ACh activates α7 nicotinic ACh receptor (nAChRs) on TSCs, GABA is released and activates GABA receptors on the nerve terminal that subsequently reduce ACh release.
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