Results 151 to 160 of about 32,445 (282)

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

An age‐associated decline in the role of the sarcoplasmic reticulum and associated calcium‐handling proteins sets the pace for sinoatrial node function

The Journal of Physiology, EarlyView.
Abstract figure legend Stable, responsive pacemaking in the sinoatrial node is driven by the activity of the funny current (membrane clock), interplay of calcium cycling and release from the sarcoendoplasmic reticulum with depolarising sodium‐calcium exchange current (calcium clock). With increasing age, key proteins associated with calcium cycling are
Sandra A. Jones, Fiona S. Godbeer, Matthew K. Lancaster   +2 more
wiley   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Resistant to Ablation, Responsive to Hydroquinidine: Precision Medicine Guides Recovery in MEPPC Syndrome Cardiomyopathy

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
We report a case of MEPPC syndrome presenting with severe dilated cardiomyopathy due to a pathogenic SCN5A p.Arg814Trp variant. Genetic diagnosis enabled precision pharmacotherapy with hydroquinidine, which suppressed multifocal Purkinje‐origin ectopy resistant to catheter ablation and led to marked improvement in left ventricular function.
Jonathan L. Ciofani, Hariharan Raju, Malcolm Anastasius   +2 more
wiley   +1 more source

Feasibility and Safety of High‐Power Settings for Electrical Isolation of the Superior Vena Cava Using a Catheter Capable of Local Impedance and Contact Force Monitoring

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
High‐power superior vena cava isolation using a contact force– and local impedance–sensing catheter achieved safe and consistent first‐pass isolation. Local impedance decreased more rapidly than generator impedance, accurately reflecting effective lesion formation and enabling reliable real‐time assessment in thin SVC myocardium.
Daisuke Kawano, Hitoshi Mori, Kei Matsumoto, Naomichi Tanaka, Tsukasa Naganuma, Wataru Sasaki, Masataka Narita, Kazuhisa Matsumoto, Yoshifumi Ikeda, Kazuo Matsumoto, Ritsushi Kato   +10 more
wiley   +1 more source

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

Multiple Myeloma Presenting as Lower Gastrointestinal Bleeding: A Case Report

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Multiple myeloma (MM) is a malignant hematologic neoplasm that primarily affects the bone marrow and can invade other organs, leading to diverse clinical manifestations. Presentation with gastrointestinal bleeding as the initial symptom is exceptionally rare.
Ahmed Arabi, Naseem Ambra, Asgad Mohamed Ahmed Eltigani, Asma Ahmed Yousif, Abdelkarim Hashim Mohamed   +4 more
wiley   +1 more source

ECG in horses : technique and interpretation [PDF]

, 2013
van Loon, Gunther, Young, Lesley
core   +1 more source

From Nerves to Vessels: Unmasking Churg‐Strauss Behind Polyneuropathy

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Eosinophilic granulomatosis with polyangiitis (EGPA), formerly Churg‐Strauss vasculitis, is a rare systemic autoimmune disease. Neurological involvement is a significant complication. This report details a case of EGPA with severe, progressive polyneuropathy and atypical serological findings, highlighting diagnostic challenges and the ...
Hiba Antar, Sylvana Balhas, Zeinab El Mawla   +2 more
wiley   +1 more source