Results 21 to 30 of about 1,311,629 (427)
Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023 Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani +10 more
wiley +1 more source
Idiopathic neonatal haemochromatosis: A case report [PDF]
, 2011 A case of neonatal hemochromatosis is reported in a premature 35-week infant who presented at birth with coffee ground vomiting and gradual appearance of grayish icter and colorless stool.
Alaee, E., Besharat, S., Zahedpasha, Y.
core +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023 Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings +1 more
wiley +1 more source
The Surgery Journal, 2020 The risks and technical difficulties at the cesarean delivery for extremely premature infant under 1,000g are as follows: (1) a premature infant is very weak for pressure of uterine wall or human hands, (2) skin of infant is really premature and weak, (3)
Takeshi Murakoshi
doaj +1 more source
Digestion of Human Milk Oligosaccharides by Bifidobacterium breve in the Premature Infant
Journal of Pediatric Gastroenterology and Nutrition - JPGN, 2017 Objective: The aim of this study was to measure consumption and absorption of human milk oligosaccharides (HMOs) in a cohort of premature infants treated with probiotic Bifidobacterium breve. Methods: Twenty-nine premature infants (median gestational age
M. Underwood +8 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 424-436, February 2023., 2023 Abstract Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein‐Taybi Syndrome (RSTS). However, previous research relied on a cross‐sectional study design turning into age‐related comparisons of different syndromic cohorts to explore age‐dependent changes.
Paola Francesca Ajmone +11 more
wiley +1 more source
Developmental and evolutionary assumptions in a study about the impact of premature birth and low income on mother–infant interaction [PDF]
, 2008 In order to study the impact of premature birth and low income on mother–infant interaction, four Portuguese samples were gathered: full-term, middle-class (n=99); premature, middle-class (n=63); full-term, low income (n=22); and premature, low income ...
A Frodi +69 more
core +1 more source
Developmental Cognitive Neuroscience, 2021 Children born very preterm (VPT;
Simonne E. Collins +9 more
doaj
Parents’ views on preparation to care for extremely premature infants at home. [PDF]
, 2018 Aim: To gain insight into the post-discharge experiences of parents in relation to the adequacy of preparation for caring for their extremely premature infant at home.
Fowler, Cathrine +3 more
core +1 more source
Percepatan Masa Penggunaan Sonde Melalui Stimulasi Non Nutritive Sucking Dalam Pemberian Minum Bayi Prematur [PDF]
, 2015 Acceleration of Gastric Tube Usage through Non Nutritive Sucking Simulation for Premature Infant Feeding. An adequate sucking can be improved a premature infant\u27s sucking reflex with non nutritive sucking stimulation (NNS) with pacifier.
Nurhayati, N. (Nurhayati) +2 more
core +2 more sources