paediatrics
paediatrics

Mitochondrial perturbation in the intestine causes microbiota-dependent injury and gene signatures discriminative of inflammatory disease

Cell Host Microbe. 2024 Jul 10:S1931-3128(24)00231-2. doi: 10.1016/j.chom.2024.06.013. Online ahead of print. ABSTRACT Mitochondrial dysfunction is associated with inflammatory bowel diseases (IBDs). To understand how …

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Am J Hum Genet. 2024 Jul 9:S0002-9297(24)00215-5. doi: 10.1016/j.ajhg.2024.06.009. Online ahead of print. ABSTRACT Trithorax-related H3K4 methyltransferases, KMT2C and KMT2D, are critical epigenetic modifiers. Haploinsufficiency …

NTRK-fused central nervous system tumours: clinicopathological and genetic insights and response to TRK inhibitors

Acta Neuropathol Commun. 2024 Jul 16;12(1):118. doi: 10.1186/s40478-024-01798-9. ABSTRACT Background Neurotrophic tropomyosin receptor kinase (NTRK) gene fusions are found in 1% of gliomas across children …

A randomized, embedded, pragmatic, Bayesian clinical trial examining clinical decision support for high flow nasal cannula management in children with bronchiolitis: design and statistical analysis plan

Trials. 2024 Jul 16;25(1):484. doi: 10.1186/s13063-024-08327-y. ABSTRACT BACKGROUND: High flow nasal cannula (HFNC) has been increasingly adopted in the past 2 decades as a mode …

Health markers, depressive symptoms, and community deprivation in a type 2 diabetes multidisciplinary care clinic for youth

Clin Diabetes Endocrinol. 2024 Jul 17;10(1):21. doi: 10.1186/s40842-024-00180-x. ABSTRACT INTRODUCTION: Type 2 diabetes disproportionately affects non-Hispanic/Latino Black and Hispanic/Latino youth. The purpose of this study …