Results 221 to 230 of about 266,608 (313)

Integrating Music Therapy and Nursing for Neonatal Procedural Support Using a Pacifier Activated Lullaby Device. [PDF]

Am J Nurs
Crouse C, Gettis M, Spratling R.
europepmc   +1 more source

Issues of Assessment of Pain and Discomfort in Neonates

, 1995
Stevens, Bonnie J., Grunau, Ruth V. E., Johnston, C. Celeste   +2 more
core   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Maternal and Child Health

Apollo Medicine, 2012
Anjali Kulkarni, Harsh Sharma
doaj   +1 more source

Isolated rectal bleeding in neonates: a scoping review. [PDF]

J Pediatr (Rio J)
Markevich A, Botelho JG, Morikawa LL, Brandão MÂB, Lomazi EA.   +4 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Multi-level static and dynamic graph-theoretical analyses of resting-state functional networks in a Chinese cohort of preterm neonates. [PDF]

iScience
Peng T, Xu S, Lin Y, Li J, Jiang C, Xu X, Liu M, Zhang L, Yang M, Lan Z, Yue J, Zhang H, Liu J, Zhou W, Cheng G.   +14 more
europepmc   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Treatment outcomes of meningitis and its associated factors among neonates admitted to public hospitals in Harar Town, Ethiopia: Cross-sectional study. [PDF]

PLoS One
Yirsaw GT, Tafesse TB, Bune AJ, Amare SN.   +3 more
europepmc   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source