paediatrics
paediatrics

Prader-Willi syndrome protein necdin regulates the nucleocytoplasmic distribution and dopaminergic neuron development

Sci Rep. 2024 Dec 30;14(1):31605. doi: 10.1038/s41598-024-76981-y. ABSTRACT Dopamine (DA) plays important roles in various behaviors, including learning and motivation. Recently, THOC5 was identified as …

Utilization of insecticide-treated bed nets and associated factors among households in Pawie District, Benshangul Gumuz, Northwest Ethiopia

Sci Rep. 2024 Dec 30;14(1):31712. doi: 10.1038/s41598-024-81090-x. ABSTRACT INTRODUCTION: Insecticide-treated bed nets are often used as a physical barrier to prevent infection of malaria. In …

AI allows pre-screening of FGFR3 mutational status using routine histology slides of muscle-invasive bladder cancer

Nat Commun. 2024 Dec 30;15(1):10914. doi: 10.1038/s41467-024-55331-6. ABSTRACT Pathogenic activating mutations in the fibroblast growth factor receptor 3 (FGFR3) drive disease maintenance and progression in …

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Genet Med. 2024 Dec 27:101348. doi: 10.1016/j.gim.2024.101348. Online ahead of print. ABSTRACT PURPOSE: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling …

Electrocardiography interpretation competency among pediatric and child health residents at Addis Ababa University, Ethiopia

BMC Med Educ. 2024 Dec 30;24(1):1548. doi: 10.1186/s12909-024-06614-5. ABSTRACT BACKGROUND: Electrocardiography (ECG) interpretation competency is vital to ensure the timely initiation of life-saving treatment for …

VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review

Orphanet J Rare Dis. 2024 Dec 30;19(1):496. doi: 10.1186/s13023-024-03486-2. ABSTRACT BACKGROUND: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the …

Impact of gender on self-assessment accuracy among fourth-year French medical students on faculty’s online Objective Structured Clinical Examinations

BMC Med Educ. 2024 Dec 30;24(1):1553. doi: 10.1186/s12909-024-06573-x. ABSTRACT BACKGROUND: Historically, women have been shown to underestimate their abilities, while men often assess themselves more …