paediatrics
paediatrics

Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration

Proc Natl Acad Sci U S A. 2024 May 7;121(19):e2318413121. doi: 10.1073/pnas.2318413121. Epub 2024 Apr 29. ABSTRACT Determining the pathogenicity of hypertrophic cardiomyopathy-associated mutations in …

Recurrent Artery of Heubner Guiding the Clip Application for Internal Carotid Artery Bifurcation Aneurysm: 2-Dimensional Operative Video

Oper Neurosurg (Hagerstown). 2024 Apr 25. doi: 10.1227/ons.0000000000001181. Online ahead of print. ABSTRACT Aneurysms of the bifurcation of the internal carotid artery (ICA) represent approximately …

The evaluation of depression and anxiety levels of mothers of patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome and familial Mediterranean fever

Postgrad Med. 2024 Apr 29:1-6. doi: 10.1080/00325481.2024.2347829. Online ahead of print. ABSTRACT OBJECTIVE: Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome and familial Mediterranean …

Assessing parent-child interaction with deaf and hard of hearing infants aged 0-3 years: An international multi-professional e-Delphi

PLoS One. 2024 Apr 29;19(4):e0301722. doi: 10.1371/journal.pone.0301722. eCollection 2024. ABSTRACT INTRODUCTION: Most deaf babies are born to hearing families who do not yet have the …

Peripheral Oxygenation and Pulmonary Hemodynamics in Individuals With Fontan Circulation During 24-Hour High-Altitude Exposure Simulation

Circulation. 2024 Apr 30;149(18):1466-1468. doi: 10.1161/CIRCULATIONAHA.123.067601. Epub 2024 Apr 29. NO ABSTRACT PMID:38683898 | DOI:10.1161/CIRCULATIONAHA.123.067601

Digital Phenotypes for Early Detection of Internet Gaming Disorder in Adolescent Students: Explorative Data-Driven Study

JMIR Ment Health. 2024 Apr 29;11:e50259. doi: 10.2196/50259. ABSTRACT BACKGROUND: Limited awareness, social stigma, and access to mental health professionals hinder early detection and intervention …

FOXO1 Single-Nucleotide Polymorphisms Are Associated with Bleeding Severity and Sensitivity of Glucocorticoid Treatment of Pediatric Immune Thrombocytopenia

DNA Cell Biol. 2024 Apr 29. doi: 10.1089/dna.2023.0431. Online ahead of print. ABSTRACT Immune thrombocytopenia (ITP) is an autoimmune-mediated hemorrhagic disease. Emerging evidence indicates that …