paediatrics
paediatrics

A multi-omics Mendelian randomization identifies putatively causal genes and DNA methylation sites for asthma

World Allergy Organ J. 2024 Dec 7;17(12):101008. doi: 10.1016/j.waojou.2024.101008. eCollection 2024 Dec. ABSTRACT BACKGROUND: Asthma is a global chronic respiratory disease with complex pathogenesis. While …

Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands

Mol Genet Metab Rep. 2024 Dec 5;41:101168. doi: 10.1016/j.ymgmr.2024.101168. eCollection 2024 Dec. ABSTRACT BACKGROUND: Variants in NDUFAF6 have been reported to be associated with Leigh …

Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia

Front Immunol. 2024 Dec 10;15:1498066. doi: 10.3389/fimmu.2024.1498066. eCollection 2024. ABSTRACT Mutations in the recombination-activating gene 1, a pivotal component essential for V(D)J recombination and the …

Mortality reduction with 23-valent pneumococcal polysaccharide vaccine: a systematic review and meta-analysis

Pneumonia (Nathan). 2024 Dec 25;16(1):30. doi: 10.1186/s41479-024-00149-5. ABSTRACT BACKGROUND: Pneumococcal disease, caused by Streptococcus pneumoniae, imposes a significant global health burden, particularly affecting vulnerable groups …

Impact of learning health systems on cross-system collaboration between youth legal and community mental health systems: a type II hybrid effectiveness-implementation trial

Implement Sci Commun. 2024 Dec 24;5(1):142. doi: 10.1186/s43058-024-00686-6. ABSTRACT BACKGROUND: Youth involved in the legal system have disproportionately higher rates of problematic substance use than …

Assessment and quantitative analysis of hip surrounding muscles in children with developmental dysplasia of the hip via magnetic resonance imaging

J Orthop Surg Res. 2024 Dec 24;19(1):871. doi: 10.1186/s13018-024-05366-8. ABSTRACT BACKGROUND: The muscles that encase the hip serve a crucial role in both joint stability …