Paediatrics
Paediatrics

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience

Orphanet J Rare Dis. 2025 May 7;20(1):220. doi: 10.1186/s13023-025-03732-1. ABSTRACT BACKGROUND: Childhood neurometabolic disorders encompass a range of heterogeneous conditions often presenting with atypical or …

Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey

Orphanet J Rare Dis. 2025 May 7;20(1):217. doi: 10.1186/s13023-025-03694-4. ABSTRACT BACKGROUND: Alpha-mannosidosis is a rare recessive lysosomal storage disorder with progressive multi-systemic impacts. In the …

Artificial intelligence in pediatric otolaryngology: A state-of-the-art review of opportunities and pitfalls

Int J Pediatr Otorhinolaryngol. 2025 May 4;194:112369. doi: 10.1016/j.ijporl.2025.112369. Online ahead of print. ABSTRACT BACKGROUND: Artificial Intelligence (AI) and machine learning (ML) have transformative potential …

FBLIM1 drives bile duct ligation-induced liver fibrosis by regulating the TGF-β signaling pathway through WTAP-mediated m6A modification

Int Immunopharmacol. 2025 May 6;157:114744. doi: 10.1016/j.intimp.2025.114744. Online ahead of print. ABSTRACT BACKGROUND: Liver fibrosis is one of the main severe pathological consequences of obstructive …

HLA alleles predisposing to autoimmunity are linked to impaired immunoregulation in patients with juvenile autoimmune liver disease and in their first-degree relatives

J Autoimmun. 2025 May 6;154:103436. doi: 10.1016/j.jaut.2025.103436. Online ahead of print. ABSTRACT BACKGROUND & AIMS: Juvenile autoimmune liver disease (JAILD) comprises autoimmune hepatitis and autoimmune …

Incidence and predictors of mortality among children admitted to intensive care unit in tertiary hospitals of West Oromia, Ethiopia

J Pediatr Nurs. 2025 May 6;83:160-167. doi: 10.1016/j.pedn.2025.05.001. Online ahead of print. ABSTRACT BACKGROUND: Child mortality related to intensive care unit admission is a contributor …