paediatrics
paediatrics

paediatrics

Paediatrics

Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian Family

Mol Genet Genomic Med. 2025 Feb;13(2):e70081. doi: 10.1002/mgg3.70081. ABSTRACT BACKGROUND: Cerebellar ataxia, mental retardation, and dysequilibrium (CAMRQ) syndrome is a rare neurodevelopmental disorder characterized by …

Paediatrics

Role of EZH2-mediated abnormal histone H3K27me3 methylation in pressure overload-induced cardiac remodeling in mice

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2024 Sept 28;49(9):1390-1399. doi: 10.11817/j.issn.1672-7347.2024.230335. ABSTRACT OBJECTIVES: Cardiac remodeling is a critical pathological process leading to …

Paediatrics

ISG15-Dependent Stabilisation of USP18 Is Necessary but Not Sufficient to Regulate Type I Interferon Signalling in Humans

Eur J Immunol. 2025 Feb;55(2):e202451651. doi: 10.1002/eji.202451651. ABSTRACT Type I interferon (IFN) signalling induces the expression of several hundred IFN-stimulated genes (ISGs) that provide an …

Paediatrics

The hybrid space in eating disorder treatment: towards a personalized approach to integrating telehealth and in-person care

J Eat Disord. 2025 Feb 10;13(1):22. doi: 10.1186/s40337-025-01211-3. ABSTRACT The combination of in-person and telehealth treatment for individuals with eating disorders is becoming an important …

Paediatrics

A central role of nutrition in cognitive function among primary school children: a cross-sectional analysis

BMC Nutr. 2025 Feb 10;11(1):35. doi: 10.1186/s40795-025-01016-2. ABSTRACT BACKGROUND: Childhood overweight and obesity have implications that extend beyond physical health. Despite evidence linking obesity to …

Paediatrics

Outcomes of the ROSE Sustainment (ROSES) Study, a sequential multiple assignment randomized implementation trial to determine the minimum necessary intervention to sustain a postpartum depression prevention program in agencies serving low-income pregnant people

Implement Sci. 2025 Feb 10;20(1):9. doi: 10.1186/s13012-025-01420-z. ABSTRACT BACKGROUND: This Sequential Multiple Assignment Randomized Trial (SMART) was conducted to determine minimum implementation support needed for …

Paediatrics

A phase 2 randomized, double-blind trial of ART-001, a selective PI3Kα inhibitor, for the treatment of slow-flow vascular malformations

Orphanet J Rare Dis. 2025 Feb 10;20(1):64. doi: 10.1186/s13023-025-03564-z. ABSTRACT BACKGROUND: In patients with slow-flow vascular malformations (SFVMs) including venous malformations (VM), lymphatic malformations (LM) …

Paediatrics

The impact of trauma-informed training on pediatricians’ perceived-competence in treating war-affected children: a pilot study

BMC Med Educ. 2025 Feb 10;25(1):213. doi: 10.1186/s12909-024-06605-6. ABSTRACT BACKGROUND: War and collective trauma significantly affect children’s physical and mental well-being. Pediatricians, as frontline healthcare …

Paediatrics

Current situation and influencing factors of clinical narrative competence of pediatric specialist nurses: a cross-sectional study

BMC Nurs. 2025 Feb 10;24(1):157. doi: 10.1186/s12912-025-02791-w. ABSTRACT BACKGROUND: The growing focus on health-centered care emphasizes humanistic skills and clinical narrative competence in nursing, particularly …