paediatrics
paediatrics

An exceptionally rare case of a diffuse midline glioma with concomitant H3.1 K27M and G34R mutations in the HIST1H3C (H3C3) gene

Acta Neuropathol Commun. 2025 Jan 16;13(1):7. doi: 10.1186/s40478-024-01899-5. ABSTRACT Histone mutations (H3 K27M, H3 G34R/V) are molecular features defining subtypes of paediatric-type diffuse high-grade gliomas …

Correction: Benefits of a Juvenile Arthritis Support Program (JASP-1) for children recently diagnosed with Juvenile Idiopathic Arthritis and their parents

BMC Rheumatol. 2025 Jan 15;9(1):6. doi: 10.1186/s41927-024-00443-1. NO ABSTRACT PMID:39815327 | DOI:10.1186/s41927-024-00443-1

Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience

Orphanet J Rare Dis. 2025 Jan 15;20(1):26. doi: 10.1186/s13023-024-03443-z. ABSTRACT BACKGROUND: Homozygous familial hypercholesterolaemia (HoFH) increases risk of premature cardiovascular events and cardiac death. In …

Derivation and validation of a clinical predictive model for longer duration diarrhea among pediatric patients in Kenya using machine learning algorithms

BMC Med Inform Decis Mak. 2025 Jan 15;25(1):28. doi: 10.1186/s12911-025-02855-6. ABSTRACT BACKGROUND: Despite the adverse health outcomes associated with longer duration diarrhea (LDD), there are …

Impact of antiviral prophylaxis on EBV viremia and posttransplant lymphoproliferative disorders in solid organ transplant recipients: a systematic review and meta-analysis

Virol J. 2025 Jan 15;22(1):11. doi: 10.1186/s12985-025-02623-y. ABSTRACT INTRODUCTION: Organ transplant recipients face a substantial risk of developing posttransplant lymphoproliferative disorders (PTLD). In over 90% …

Child Neurology: Severe GMPPB-Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death

Neurology. 2025 Feb 11;104(3):e210300. doi: 10.1212/WNL.0000000000210300. Epub 2025 Jan 15. ABSTRACT Pathogenic variants in GMPPB cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). …