Results 61 to 70 of about 72,610 (277)

Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode

Frontiers in Genetics
BackgroundLong QT syndrome (LQTS) is an inherited malignant arrhythmia syndrome that poses a risk of sudden death. Variants in the Potassium Voltage-Gated Channel Subfamily H Member 2 (KCNH2) gene are known to cause Long QT syndrome through an autosomal ...
Peng Chen, Peng Chen, Zainul Zampawala, Hong Wang, Luyun Wang   +4 more
doaj   +1 more source

Vomiting, electrolyte disturbance, and medications; the perfect storm for acquired long QT syndrome and cardiac arrest: a case report

Journal of Medical Case Reports, 2022
Background Acquired long QT syndrome is an important and preventable cause of cardiac arrest. Certain medications and electrolyte disturbance are common contributors, and often coexist. In this case, we report five contributors to cardiac arrest.
K. D. Tiver, D. Dharmaprani, J. X. Quah, A. Lahiri, K. E. Waddell-Smith, A. N. Ganesan   +5 more
doaj   +1 more source

Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation

Frontiers in Pediatrics, 2021
Background: Long QT syndactyly syndrome (long QT syndrome type 8), also known as Timothy Syndrome (TS) was first described in 1994 with still <50 case reported in the literature.
Ahmed A. Nugud, Nermeen Mahmoud ELkholy, Awad Alkarim Omar, Abid Qazi, Christos Tzivinikos, Christos Tzivinikos, Nidheesh Chencheri, Sabina Khan, Muhammad Eyad Ba'Ath, Muhammad Eyad Ba'Ath   +9 more
doaj   +1 more source

Age‐related differences in hydroxychloroquine‐associated adverse events: A pharmacovigilance study based on the FDA Adverse Event Reporting System

British Journal of Clinical Pharmacology, EarlyView.
Aims This real‐world pharmacovigilance study utilizes FDA Adverse Event Reporting System (FAERS) data (2004–2024) to characterize age‐related disparities in hydroxychloroquine (HCQ)‐associated adverse events (AEs), addressing gaps in age‐stratified risk assessment. Methods Disproportionality analysis (reporting odds ratios, RORs) and parametric Weibull
Guanghan Sun, Jingrong Yang, Lei Wan, Xia Xu, Jing Wang   +4 more
wiley   +1 more source

Early LQT2 Nonsense Mutation Generates N-Terminally Truncated hERG Channels with Altered Gating Properties by the Reinitiation of Translation

, 2012
Mutations in the human ether-a-go-go-related gene (hERG) result in long QT syndrome type 2 (LQT2). The hERG gene encodes a K+ channel that contributes to the repolarization of the cardiac action potential.
Gong, Qiuming, Packer, Jonathan D., Stump, Matthew R., Zhou, Zhengfeng   +3 more
core   +1 more source

Contraindicated drug–drug interactions and associated adverse drug reactions in an observational cohort study of 4543 paediatric hospitalized patients

British Journal of Clinical Pharmacology, EarlyView.
Abstract Background and Purpose Drug–drug interactions (DDIs) are associated with an increased risk of adverse drug reactions (ADRs). Hospitalized children are particularly vulnerable to DDIs and ADRs due to polypharmacy, frequent use of unlicensed or off‐label medications, and dosing regimens often extrapolated from adult data.
Emilie Laval, Sylvain Goutelle, Inesse Boussaha, Xavier Dode, Yanis Mimouni, Kim An Nguyen, Behrouz Kassai   +6 more
wiley   +1 more source

Extremely dangerous hypopituitarism related long QT syndrome and transient ST-segment elevation: A case report

SAGE Open Medical Case Reports, 2023
Acquired long QT syndrome caused by hypopituitarism and transient ST-segment elevation has not been reported in cardiac arrest patients. We report a case of extremely dangerous acquired long QT syndrome and transient ST-segment elevation.
Jia Zhang, Yingying Zou, Xiaoshu Chen, Jingye Pan, Haizhu Yu, Yi Wang, Yanran Wu, He Zou   +7 more
doaj   +1 more source

Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]

, 2000
Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
core   +1 more source

Electrophysiology of the long qt syndromes [PDF]

Clinical Cardiology, 1990
The long QT syndromes are a collection of disorders, both acquired and congenital, in which episodes of syncope or presyncope occur secondary to a specific ventrticular tachycardia, «torsade de pointes», which arises in the setting of prolongation of ventricular repolarization as manifested by a prolonged QT interval on the surface electrocardiogram ...
N J, Linker, D E, Ward
openaire   +2 more sources

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 Genotype and Use of 5‐HT3 Receptor Antagonists: 2026 Update

Clinical Pharmacology &Therapeutics, EarlyView.
5‐hydroxytryptamine type 3 (5‐HT3) receptor antagonists are used to treat nausea and vomiting and in the prevention of chemotherapy‐induced, radiation‐induced, and postoperative nausea and vomiting. Most of the 5‐HT3 receptor antagonists (i.e., ondansetron, tropisetron, dolasetron, palonosetron, and ramosetron) are metabolized by CYP2D6, but the extent
Claire Moore, Melissa S. Bourque, Andreas Halman, José A. G. Agúndez, Cynthia A. Prows, Keiko Hikino, Matthias Schwab, Carolyn J. Oxencis, Dharmisha Chauhan, Meta H.M. Diekstra, Susie E. Long, Gillian C. Bell, Andrea Gaedigk, Michelle Whirl‐Carrillo, Teri E. Klein, Kelly E. Caudle, Rachel Conyers   +16 more
wiley   +1 more source