Results 91 to 100 of about 34,480 (242)
[Genetic in long QT syndromes].
Archivos de cardiologia de Mexico, 2009 The long QT syndrome (LQTS) is a genetic disorder characterized by prolongation of the QT interval in the electrocardiogram (ECG) and a propensity to "torsades de pointes" ventricular tachycardia frequently leading to syncope, cardiac arrest, or sudden death usually in young otherwise healthy individuals.
Iturralde-Torres, Pedro +1 more
openaire +2 more sources
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Aim The aim of this Phase I/II open‐label study was to assess the safety and efficacy of NTI164, a novel full‐spectrum medicinal cannabis plant extract 0.08% Δ‐9‐tetrahydrocannabinol (THC), in Rett syndrome (RTT). Methods Eleven female participants (5–16 years) with a pathogenic variant in the MECP2 gene were recruited to this study, receiving
B. A. Keating +7 more
wiley +1 more source
Characterisation of sleep apneas and respiratory circuitry in mice lacking CDKL5
Journal of Sleep Research, Volume 34, Issue 2, April 2025.Summary CDKL5 deficiency disorder is a rare genetic disease caused by mutations in the CDKL5 gene. Central apneas during wakefulness have been reported in patients with CDKL5 deficiency disorder. Studies on CDKL5‐knockout mice, a CDKL5 deficiency disorder model, reported sleep apneas, but it is still unclear whether these events are central (central ...
Gabriele Matteoli +12 more
wiley +1 more source
QT Interval Evaluation in Right Ventricular Pacing: Validation of a Novel Formula
Pacing and Clinical Electrophysiology, EarlyView.Abstract Background QT interval measurement in the presence of right ventricular pacing (RVP) represents a clinical challenge. We therefore aimed to derive and validate a formula for QT estimation during RVP in a large cohort of pacemaker patients. Methods and Results We prospectively enrolled 100 patients in a derivation cohort and 487 in a validation
Amr Abdin +9 more
wiley +1 more source
Pacing and Clinical Electrophysiology, EarlyView.BiVP = biventricular pacing; CRT = cardiac resynchronization therapy; EMW = electromechanical window; LBBAP = left bundle branch area pacing; QAoC = Time interval from the onset of the QRS complex to the center of the aortic valve closure artifact; QT = QT interval measured by tangent method.
Florien Klein +18 more
wiley +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Schematic overview of the experimental and computational framework for investigating hiPSC‐CM electrophysiology with MEA systems. The MEA‐based model integrates experimental data with phenotype‐specific ionic models and tissue‐level heterogeneity.
Sofia Botti +2 more
wiley +1 more source
Potential health benefits of cold‐water immersion: the central role of PGC‐1α
The Journal of Physiology, EarlyView.Abstract figure legend Cold‐water immersion (CWI) elicits autonomic, somato‐motoric (shivering thermogenesis), endocrine and metabolic, sensory transduction, and local biophysical effects that may converge on the transcriptional co‐activator PGC‐1α (centre).
Erich Hohenauer +2 more
wiley +1 more source
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
Congenital long QT syndrome: The masquerader
Indian Journal of Anaesthesia, 2022 Bincy V Thomas +3 more
doaj +1 more source