(BMC pediatrics [electronic resource][TA])
8,350 results
  • Asphyxiating thoracic dystrophy associated with IFT74 pathogenic variant: a case report. [Case Reports]
    BMC Pediatr. 2026 Aug 04; 26(1).Abadi A, Ateeq B, … Hajji RABPed
  • CONCLUSIONS: This case highlights a lethal neonatal phenotype of IFT74-related SRTD20, reinforcing the critical role of IFT74 in ciliary assembly and axonal guidance. Early WES is essential for diagnosing genetically heterogeneous skeletal dysplasias, providing accurate prognostic counseling, and guiding end-of-life discussions in cases of severe thoracic insufficiency.
  • Application of bronchoscopy in children with primary ciliary dyskinesia. [Journal Article]
    BMC Pediatr. 2026 Aug 05; 26(1).Wang X, Zhang JBPed
  • CONCLUSIONS: In this small cohort of six pediatric PCD patients, bronchoscopy appeared to be a safe and potentially useful integrated approach, combining disease assessment, and therapeutic intervention (airway clearance). The procedure also provided valuable insights into the airway inflammatory and microbiological phenotype. However, given the preliminary nature of these findings and the limited sample size, larger prospective studies are needed to confirm the role of bronchoscopy in routine PCD management.
  • Characterizing neonatal survival across the first four years of operation of a special care baby unit in Eastern Sierra Leone. [Journal Article]
    BMC Pediatr. 2026 Aug 04; 26(1).Mitchell A, Kamara F, … Blair AHBPed
  • CONCLUSIONS: The early years of SCBU operation saw wide variation in neonatal characteristics and outcomes. Key shifts including the increase in referrals of younger patients may have contributed to the upward trend in deaths, though further exploration is needed. Overall, both the common diagnoses and key drivers of mortality aligned with national trends suggesting continued efforts to mitigate asphyxia and prematurity for SCBU patients are critical. As one of the first detailed characterizations of SCBU operation in a rural, low-income setting in this region, our findings underscore the importance of investing in timely, quality neonatal care.
  • Parental perception of children sleep pattern changes during FIFA World Cup 2022. [Journal Article]
    BMC Pediatr. 2026 Aug 03; 26(1).Aljamaan F, Alhuzaimi A, … Temsah MHBPed
  • CONCLUSIONS: Major sporting and social events might significantly disrupt children's sleep schedules, compounding the public health issue of chronic SJL. Such periodic events expose the vulnerability in paediatric population by aggravating already existing SJL. Therefore, families need proactive guidance dealing with such events to protect their children of already existing SJL from baseline social and societal factors, and help them recover from their negative consequences on paediatric circadian biology.