Paediatrics
Paediatrics

Lumasiran at birth changes the trajectory of primary hyperoxaluria type 1: same disease, different outcomes in two affected siblings

J Nephrol. 2025 Jul 9. doi: 10.1007/s40620-025-02325-2. Online ahead of print. ABSTRACT Lumasiran, an RNA interference therapeutic, demonstrated effectiveness in clinical trials, leading to approval …

A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2-Related Mitochondrial Disorder

Am J Med Genet A. 2025 Jul 9:e64177. doi: 10.1002/ajmg.a.64177. Online ahead of print. ABSTRACT POLG2 encodes an accessory subunit in DNA polymerase gamma that …

Refractory anaphylactic shock to peanut ingestion in a pediatric patient requiring extracorporeal life support

Perfusion. 2025 Jul 9:2676591251360909. doi: 10.1177/02676591251360909. Online ahead of print. ABSTRACT IntroductionCurrent guidelines advise that anaphylactic shock refractory to traditional treatments may be managed with …

A systematic protocol to identify “clinical controls” for pediatric neuroimaging research from clinically acquired brain MRIs

bioRxiv [Preprint]. 2025 Jul 1:2025.06.25.661530. doi: 10.1101/2025.06.25.661530. ABSTRACT Progress at the intersection of artificial intelligence and pediatric neuroimaging necessitates large, heterogeneous datasets to generate robust …

The influence of initial Norwood palliation on cardiac transplantation in the failing Fontan: A dual-institution study

JTCVS Open. 2025 Feb 14;25:346-353. doi: 10.1016/j.xjon.2025.02.003. eCollection 2025 Jun. ABSTRACT OBJECTIVE: To explore the differences in perioperative cardiac transplant courses and outcomes between patients …