Paediatrics
Paediatrics

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review

BMC Med Genomics. 2025 May 19;18(1):90. doi: 10.1186/s12920-025-02155-y. ABSTRACT BACKGROUND: Chromosome 17p13.3 is a region of genomic instability associated with different neurodevelopmental diseases. The malformation …

Letter to the Editor: Is Proximal Femur Reconstruction With a Vascularized Fibula and Allograft Successful at Reconstructing a Tumor Resection in Children 6 Years of Age or Younger?

Clin Orthop Relat Res. 2025 May 16. doi: 10.1097/CORR.0000000000003524. Online ahead of print. NO ABSTRACT PMID:40388804 | DOI:10.1097/CORR.0000000000003524

Severe hyperbilirubinemia prediction in neonates using a newly developed cord blood index (Çapa index): a promising tool: A retrospective cohort pilot study

Medicine (Baltimore). 2025 May 16;104(20):e42516. doi: 10.1097/MD.0000000000042516. ABSTRACT Prevention of hyperbilirubinemia, among common reasons for outpatient visits and hospital readmissions during the neonatal period, depends …

Confirmed virological failure following enhanced adherence counseling among virally unsuppressed children and adolescents on dolutegravir-based versus other regimens: Evidence from a cohort analysis in Cameroon

Medicine (Baltimore). 2025 May 16;104(20):e42555. doi: 10.1097/MD.0000000000042555. ABSTRACT Achieving and maintaining viral suppression (VS) in pediatric populations remain suboptimal in low- and middle-income countries (LMICs), …

Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing

PLoS One. 2025 May 19;20(5):e0324177. doi: 10.1371/journal.pone.0324177. eCollection 2025. ABSTRACT Pediatric neurological disorders are a diverse group of conditions affecting the nervous system in children, …