Results 321 to 330 of about 849,858 (379)

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Prevalence and associated factors of anemia among newborns in Africa: a systematic review and meta-analysis. [PDF]

BMC Pediatr
Messelu MA, Amlak BT, Akalu TY, Tiruneh BG, Adugna MB, Zeleke A, Tewelgne MF, Shibabaw AT, Nibret G, Amlaku S, Ayenew T.   +10 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Determinants of Birth Asphyxia Among Newborns at a Tertiary Care Hospital, Central Ethiopia: A Case-Control Study. [PDF]

Biomed Res Int
Alemayehu T, Fati NM, Adlo AM, Deksisa A, Chirnet AT, Wakwoya EB, Negussie YM.   +6 more
europepmc   +1 more source

Immediate Kangaroo Mother Care for Sick Newborns: Quality Improvement Implementation and Feasibility Study. [PDF]

JMIR Pediatr Parent
Fernández-Monteaguado B, Peña-Moreno A, Ramírez-de Andrés I, Barbero-Casado P, Zarzuela-NÚñez E, Bellón-Vaquerizo B, Martin Arriscado-Arroba C, Moral-Pumarega MT, Piris-Borregas S, Pallás-Alonso CR.   +9 more
europepmc   +1 more source

An early post-birth immune-microbiota landscape predicts the development of necrotizing enterocolitis in term newborns with congenital heart defects. [PDF]

Sci Rep
Zaikova E, Kaplina A, Belozertsev D, Kostareva A, Sitkin S, Petrova N, Mashevskiy G, Pervunina T, Kudryavtsev I, Golovkin A, Kalinina O.   +10 more
europepmc   +1 more source

Analysis of the effectiveness of SPOC combined with BOPPPS teaching method in stoma care training for nurses in neonatal intensive care units. [PDF]

BMC Med Educ
Chen X, Song Y, Li X, Zhao X.
europepmc   +1 more source

Multiple Maternal Chronic Conditions and Risk of Severe Neonatal Morbidity and Mortality.

JAMA Netw Open
Brown HK, Fung K, Cohen E, Dennis CL, Grandi SM, Rosella LC, Varner C, Vigod SN, Wigle J, Wodchis WP, Ray JG.   +10 more
europepmc   +1 more source