Results 101 to 110 of about 219,424 (290)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source
Participation of Mothers in the Care of Premature Infants and its Associated Factors
Journal of Holistic Nursing and Midwifery, 2017 Introduction: Parental participation in the care of and support to premature infants is the main factor in accelerating health improvement and growth of infants in the neonatal unit.
Sharare Zabihi Afroozi +4 more
doaj
An overview of recent applications of computational modelling in neonatology [PDF]
, 2010 This article has been made available through the Brunel Open Access Publishing Fund.This paper reviews some of our recent applications of Computational Fluid Dynamics (CFD) to model heat and mass transfer problems in neonatology and investigates the ...
Fic, AM +4 more
core +2 more sources
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek +8 more
wiley +1 more source
Maternal fucosyltransferase 2 status affects the gut bifidobacterial communities of breastfed infants. [PDF]
, 2015 BackgroundIndividuals with inactive alleles of the fucosyltransferase 2 gene (FUT2; termed the 'secretor' gene) are common in many populations. Some members of the genus Bifidobacterium, common infant gut commensals, are known to consume 2'-fucosylated ...
German, J Bruce +11 more
core +1 more source
Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo +5 more
wiley +1 more source
Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2020 BACKGROUND AND OBJECTIVE: Transferring a premature infant from the hospital to home is a burden for the family. One of the most important goals of the health system is to facilitate the transition of the infant.
M Namnabati, S Keyvanfar, AR Sadeghnia
doaj
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones +6 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote +9 more
wiley +1 more source