Simpson-Golabi-Behmel syndrome
Am J Med Genet C Semin Med Genet. 2024 May 20:e32088. doi: 10.1002/ajmg.c.32088. Online ahead of print. ABSTRACT The Simpson-Golabi-Behmel syndrome (SGBS; OMIM 312870) is …
Month: May 2024
Preparing tomorrow’s doctors for the genomics era: A nationwide survey of UK medical students
Future Healthc J. 2024 Apr 20;11(2):100133. doi: 10.1016/j.fhj.2024.100133. eCollection 2024 Jun. ABSTRACT INTRODUCTION: Low confidence in genomics knowledge among clinicians is a major barrier to …
Antimicrobial Stewardship Programs in Neonates: A Meta-Analysis
Pediatrics. 2024 May 20:e2023065091. doi: 10.1542/peds.2023-065091. Online ahead of print. ABSTRACT BACKGROUND AND OBJECTIVES: Neonatal sepsis is a significant contributor to mortality and morbidity; however, …
Direct Admissions for Neonatal Hyperbilirubinemia: Safe, High Value Care
Hosp Pediatr. 2024 May 20:e2024007781. doi: 10.1542/hpeds.2024-007781. Online ahead of print. NO ABSTRACT PMID:38766711 | DOI:10.1542/hpeds.2024-007781
Case Series of Berry syndrome: A rare constellation of fatal cardiac anomalies
Ann Pediatr Cardiol. 2023 Sep-Oct;16(5):374-377. doi: 10.4103/apc.apc_109_23. Epub 2024 Apr 1. ABSTRACT Berry syndrome is an extremely rare constellation of several congenital cardiac anomalies consisting …
SIGIRR gene variants in term newborns with congenital heart defects and necrotizing enterocolitis
Ann Pediatr Cardiol. 2023 Sep-Oct;16(5):337-344. doi: 10.4103/apc.apc_30_23. Epub 2024 Apr 1. ABSTRACT BACKGROUND: Necrotizing enterocolitis (NEC) is a common gastrointestinal emergency among neonates which is …
Harmful Traditional Practices of Umbilical Cord in Edaga Hamus Community, Asmara, Eritrea
Pediatric Health Med Ther. 2024 May 14;15:181-188. doi: 10.2147/PHMT.S434741. eCollection 2024. ABSTRACT PURPOSE: Globally, the cord care practices contribute to neonatal infections and account for …
The association of oxidative stress of neonatal hyperbilirubinemia and vitamin E supplementation
Clin Exp Hepatol. 2024 Mar;10(1):30-38. doi: 10.5114/ceh.2024.136230. Epub 2024 Mar 17. ABSTRACT AIM OF THE STUDY: Jaundice in newborns is a sign of skin and …
Epigenetically active chromatin in neonatal iWAT reveals GABPalpha as a potential regulator of beige adipogenesis
Front Endocrinol (Lausanne). 2024 May 3;15:1385811. doi: 10.3389/fendo.2024.1385811. eCollection 2024. ABSTRACT BACKGROUND: Thermogenic beige adipocytes, which dissipate energy as heat, are found in neonates and …
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. ABSTRACT PURPOSE: The function of FAM177A1 and its relationship to human disease is largely …