Results 71 to 80 of about 29,179 (198)
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue +16 more
wiley +1 more source
Journal of Arrhythmia, 2017 A 7-year-old boy presented at our hospital with syncope. At birth, electrocardiography had shown a long QT interval with torsade de pointes (TdP). Congenital long QT syndrome (LQTS) had been diagnosed by genetic testing, and was successfully controlled ...
Hirotaro Sugiyama, MD +9 more
doaj +1 more source
The importance of the epinephrine provocation test for the hidden type-1 congenital long QT syndrome
Türk Kardiyoloji Derneği Arşivi, 2020 Congenital long QT syndrome (LQTS) is a genetic channelopathy associated with a high incidence of sudden cardiac death in children and young adults. QT interval prolongation is typically the primary finding on the electrocardiography (ECG) recordings ...
Adem Atici +3 more
doaj +1 more source
The diagnostic role of T wave morphology biomarkers in congenital and acquired long QT syndrome: A systematic review [PDF]
, 2022 D. Tardo +4 more
openalex +1 more source
Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.This study functionally confirmed the pathogenicity of the KCNH2 missense variant L693P, previously classified as a variant of uncertain significance, which causes type 2 congenital long QT syndrome by impairing potassium channel maturation and altering inactivation kinetics.
Xi‐Fan Zheng +4 more
wiley +1 more source
Breast and Nipple Dermatoses During Lactation
Australasian Journal of Dermatology, Volume 66, Issue 7, Page e386-e407, November 2025.ABSTRACT Lactation and breastfeeding can present both psychological and physical challenges for breastfeeding mothers. In addition, many nursing mothers will also suffer from breast and nipple dermatoses during this period, compounding these difficulties. Common causes of breast and nipple dermatitis during lactation include eczema, psoriasis, mastitis,
Hamish Moore, Annabel Stevenson
wiley +1 more source
Hyperpyrexia associated with congenital Long QT Syndrome
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2014 Congenital long QT syndrome (CLQTS) is a genetic disorder presented with prolonged QT interval. In these patients, risk of sudden cardiac death due to ventricular tachyarrhythmias is high.
Nuriye Tarakci +4 more
doaj
Acta Paediatrica, Volume 114, Issue 11, Page 3021-3033, November 2025.ABSTRACT Aim There have been concerns about links between medication for attention deficit hyperactivity disorder (ADHD) and cardiac events in children and young people. Our aim was to identify any associations. Method This Swedish case–control study used national register data to identify individuals aged 5–30 years who received their first diagnosis ...
Howaida Elmowafi +4 more
wiley +1 more source
A MATLAB algorithm to automatically estimate the QT interval and other ECG parameters and validation using a machine learning approach in congenital long-QT syndrome [PDF]
, 2023 Elinor Tzvi +3 more
openalex +1 more source
Twenty‐Four Hour Rhythms in Cardiovascular Physiology
Acta Physiologica, Volume 241, Issue 11, November 2025.ABSTRACT Many physiological parameters, such as heart rate and blood pressure, display pronounced daily rhythms, with significant differences between day and night levels. The ability to anticipate the 24 h cycle of ambient light confers an adaptive advantage, allowing organisms to prepare for periods of activity and rest.
Morten B. Thomsen
wiley +1 more source