Results 101 to 110 of about 266,382 (322)

Reprogramming of a human induced pluripotent stem cell line (ZZUSAHi004-A) from a long QT syndrome patient with a heterozygous AKAP9 (c. 4021C > A) mutant

Stem Cell Research, 2022
Long QT syndrome is one of the most common hereditary arrhythmias in clinic. Mutations in AKAP9 gene can lead to long QT syndrome type 11 (LQT11). In this study, a human induced pluripotent stem cell line ZZUSAHi004-A from a 3-year-old male patient with ...
Tongbin Ding, Wenli Zhu, Xiaowei Li, Liguo Jian   +3 more
doaj  

Atrial Fibrillation in Long QT Syndrome by Genotype.

Circulation: Arrhythmia and Electrophysiology, 2019
BACKGROUND Long QT syndrome (LQTS) is caused by the abnormal function of ion channels, which may also affect atrial electrophysiology and be associated with the risk of atrial fibrillation (AF). However, large-scale studies of AF risk among patients with
P. Platonov, S. McNitt, B. Polonsky, S. Rosero, W. Zareba   +4 more
semanticscholar   +1 more source

Prevalence of prolonged QTcinterval in electrocardiograms of 1 -12 year-old seizure patients [PDF]

, 2012
Background: Children with long QT intervals are prone to life-threatening ventricular arrhythmias which may lead to seizure and syncope and may be misdiagnosed as seizure.
Aghapur, L, Rafiei, M, Sadrnia, S, Yousefi, P   +3 more
core   +2 more sources

Accelerating virtual patient generation with a Bayesian optimization and machine learning surrogate model

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 3, Page 486-494, March 2025.
Abstract The pharmaceutical industry has increasingly adopted model‐informed drug discovery and development (MID3) to enhance productivity in drug discovery and development. Quantitative systems pharmacology (QSP), which integrates drug action mechanisms and disease complexities to predict clinical endpoints and biomarkers is central to MID3.
Hiroaki Iwata, Ryuta Saito
wiley   +1 more source

A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2

International Journal of Arrhythmia, 2021
Background The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant of KCNH2 gene manifest a phenotype characterized by prolongation of ...
Hyun Sok Yoo, Nancy Medina, María Alejandra von Wulffen, Natalia Ciampi, Analia Paolucci, Hugo Ariel Garro, Mario Bruno Principato, Rafael Salvador Acunzo, Justo Carbajales   +8 more
doaj   +1 more source

A Molecular Mechanism for Adrenergic-Induced Long QT Syndrome [PDF]

, 2014
ObjectivesThis study sought to explore molecular mechanisms underlying the adrenergic-induced QT prolongation associated with KCNQ1 mutations.BackgroundThe most frequent type of congenital long QT syndrome is LQT1, which is caused by mutations in the ...
Delisle, Brian P., Ding, Wei-Guang, Horie, Minoru, Kato, Koichi, Matsuura, Hiroshi, Naiki, Nobu, Ohno, Seiko, Wu, Jie, Zang, Wei-Jin   +8 more
core   +1 more source

Perampanel monotherapy in pediatric epilepsy: Emphasizing the need for comprehensive safety evaluation

Epilepsia Open, EarlyView.
Gabriel Christian de Farias Morais, Guilherme Bastos Alves, Shahina Akter, Shopnil Akash, Md. Aktaruzzaman, Md. Sakib Al Hasan, Umberto Laino Fulco, Edilson Dantas da Silva Junior, Jonas Ivan Nobre Oliveira   +8 more
wiley   +1 more source

Pediatric Autoimmune Pancreatitis: Clinical Findings and Outcomes in Sweden

United European Gastroenterology Journal, EarlyView.
ABSTRACT Introduction Pediatric autoimmune pancreatitis (AIP) is a rare form of pancreatitis in children with poorly understood pathophysiology. It is a recognized risk factor for chronic pancreatitis in approximately 4% of pediatric cases. This study aims to describe the demographics, clinical characteristics, and outcomes of a large Swedish cohort of
Miroslav Vujasinovic, Fredrik Lindgren, Nikolaos Kartalis, Raffaella Pozzi Mucelli, Dawid Rutkowski, Alexander Waldthaler, Poya Ghorbani, Carlos Fernández Moro, Thomas Casswall, J.‐Matthias Löhr   +9 more
wiley   +1 more source

Long QT interval in resting electrocardiogram – and what next? Sports cardiologist’s pointofview. Part 1. From electrophysiology to diagnostics

Pediatria i Medycyna Rodzinna, 2014
Electrocardiography is the most common and available cardiovascular diagnostic procedure and an important tool in everyday clinical practice of a family physician. Electrocardiogram interpretation is therefore an invaluable clinical skill.
Zbigniew Krenc
doaj   +1 more source

Rare but relevant: Hydrocarbons and sudden sniffing syndrome

Addiction, EarlyView.
Abstract Inhaled hydrocarbon‐associated sudden collapse (IHASC), often referred to as ‘sudden sniffing death syndrome’ is a critical and often fatal event linked to the inhalation of volatile hydrocarbons, primarily occurring in adolescents and young adults. This syndrome manifests as sudden cardiac and/or respiratory arrest, typically occurring during
Ingrid Berling, Geoffrey Kennedy Isbister   +1 more
wiley   +1 more source