Results 41 to 50 of about 10,133 (162)

Physiological Basis of Sex Differences in Human Performance and Exercise‐Associated Pathology

Clinical Endocrinology, EarlyView.
ABSTRACT The presence of sex differences in human physical performance is well‐established and shaped by distinct endocrine, anatomical and physiological mechanisms. Despite sustained advances, our understanding of how inherent biological factors drive variations in exercise capacity and related pathologies is still developing.
David A. Holdsworth, Thomas J. O'Leary, Craig L. Doig, Natalie Taylor, Jasminder Dosanjh, David R. Woods, Michael J. Stacey, Robert M. Gifford   +7 more
wiley   +1 more source

Congenital Long-QT Syndromes [PDF]

Circulation, 2008
The congenital long-QT syndromes (LQTS) were initially described approximately 50 years ago.1–3 The principal events are syncope, seizures, and ventricular tachycardia, characteristically torsade de pointes. Most often, this arrhythmia is self terminating, producing a syncopal episode; however, LQTS is responsible for a significant proportion of sudden
openaire   +1 more source

Molecular Pathophysiology of Congenital Long QT Syndrome [PDF]

Physiological Reviews, 2017
Ion channels represent the molecular entities that give rise to the cardiac action potential, the fundamental cellular electrical event in the heart. The concerted function of these channels leads to normal cyclical excitation and resultant contraction of cardiac muscle.
M S, Bohnen, G, Peng, S H, Robey, C, Terrenoire, V, Iyer, K J, Sampson, R S, Kass   +6 more
openaire   +2 more sources

Targeting the Menin–KMT2A Axis in Acute Leukemia: From Epigenetic Dependency to Clinical Translation

European Journal of Haematology, EarlyView.
ABSTRACT Acute leukemias characterized by a shared epigenetic dependency on the menin–KMT2A axis rely on aberrant HOX‐driven transcriptional programs that sustain leukemic self‐renewal and impair differentiation. This dependency is most evident in KMT2A‐rearranged and NPM1‐mutated acute myeloid leukemia (AML), but also extends to other HOX‐dependent ...
Antonella Bruzzese, Ernesto Vigna, Enrica Antonia Martino, Santino Caserta, Francesco Mendicino, Maria Eugenia Alvaro, Caterina Labanca, Eugenio Lucia, Virginia Olivito, Mamdouh Skafi, Nicola Amodio, Fortunato Morabito, Massimo Gentile   +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, Alhasan Almasri, Ibrahim Antoun, Charles Gieres, Christian Werner, Yvonne Bewarder, Christian Ukena, Igor Schwantke, Michael Böhm, Saarraaken Kulenthiran   +9 more
wiley   +1 more source

Epilepsy in patients with long QT syndrome type 1: A Norwegian family

Epilepsy and Behavior Case Reports, 2018
The congenital long QT syndrome (cLQTS) is an inherited cardiac disorder and is associated with sudden cardiac death. We describe a Norwegian family with mutations within the KCNQ1 gene causing cLQTS type 1 (LQT1) and epilepsy.
Alba González, Dag Aurlien, Kristina H. Haugaa, Erik Taubøll   +3 more
doaj   +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, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Cardiovascular Health in Women—Across the Lifespan

Clinical Endocrinology, Volume 104, Issue 6, Page 539-555, June 2026.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar, Jessica Yao, Simone Gong, Madhuka Wijayarathne, Monique Watts, Swati Mukherjee   +5 more
wiley   +1 more source

Novel Insights in the Congenital Long QT Syndrome [PDF]

Annals of Internal Medicine, 2002
The congenital long QT syndrome is a potentially fatal, inherited cardiac syndrome. Early diagnosis and preventive treatment are instrumental to prevent sudden cardiac death in patients with the congenital long QT syndrome.To review new insights in genetics and cellular electrophysiology, as well as the current understanding of the clinical diagnosis ...
Xander H T, Wehrens, Marc A, Vos, Pieter A, Doevendans, Hein J J, Wellens   +3 more
openaire   +2 more sources

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1083-1086, May 2026.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source