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Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED).
Eur J Med Genet
December 2024
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address:
Congenital Heart Defect and Ectodermal Dysplasia (CHDED) is an autosomal dominant disorder caused by the PRKD1 gene. CHDED is characterized by heart defects and ectodermal dysplasia. To date, eight patients with CHDED have been described.
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.
View Article and Find Full Text PDFSemi-segmented lumbar supernumerary hemivertebra resection in congenital scoliosis: a case report.
J Med Case Rep
December 2024
"Carol Davila" University of Medicine and Pharmacology, Bucharest, Romania.
Background: Congenital scoliosis with progressive potential is a controversial subject in early-onset spinal deformities. The presence of a hemivertebra may produce severe spinal deformities. The evolution of a scoliotic curve in these cases is unpredictable and requires careful follow-up dependent on multiple variables, such as the location of the hemivertebra, the age of the patient at the time of diagnosis, and the degree of deformity already present in both sagittal and frontal planes.
View Article and Find Full Text PDFSequence-Dependent Repolarization Is Modulated by Endogenous Action Potential Duration Gradients Rather Than Electrical Coupling in Ventricular Myocardium.
J Am Heart Assoc
December 2024
Graduate Program in Translational Biology Medicine and Health, Virginia Tech Roanoke VA USA.
Background: Previous studies suggest the relationship between activation time (AT) and action potential duration (APD) in the heart is dependent on electrotonic coupling, but this has not been directly tested. This study assessed whether acute changes in electrical coupling, or other determinants of conduction or repolarization, modulate APD heterogeneity.
Methods And Results: Langendorff-perfused guinea pig hearts were epicardially paced and optically mapped after treatment with the gap junction uncoupler carbenoxolone, ephaptic uncoupler mannitol, ephaptic enhancer dextran 2MDa, sodium channel inhibitor flecainide, or rapid component of the delayed rectifier potassium channel inhibitor E4031.
Aortic growth rates in a Swedish cohort of women with Turner syndrome.
Int J Cardiol Congenit Heart Dis
March 2024
Department of Internal Medicine and Clinical Nutrition, Institution of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Background: Aortic dilation, cardiac malformations and hypertension are known risk factors for aortic dissection in Turner syndrome (TS). In the current guidelines, rapid growth of the aorta has been added as a risk marker. This study aimed to estimate the growth of the ascending aorta over time, to identify risk factors of aortic growth, and to describe aortic complications in TS.
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