Results 51 to 60 of about 577,369 (301)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Mothering the technology dependent infant: A review of the literature [PDF]

, 2010
Background - The role I am investigating for the purpose of this report is that of the mother to the Technology Dependent (TD) infant in the Waikato DHB region who demographic statistics inform us is likely to be of European or Maori ethnicity. Whilst TD
Thompson, Tracy
core   +1 more source

Modelling of heat and mass transfer processes in neonatology [PDF]

, 2008
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 major heat and mass transfer mechanisms taking place in medical devices such as ...
Ginalski, MK, Wrobel, LC, Nowak, AJ
core   +4 more sources

EFFECT OF KANGAROO MOTHER CARE (KMC) ON THE FORMATION OF MATERNAL-INFANT ATTACHMENT BETWEEN MOTHERS AND PREMATURE BABIES: A LITERATURE REVIEW

Nurse and Health
Background: Nursing care of premature babies in the Neonatal Intensive Care Unit (NICU) setting can inhibit the maternal-infant attachment. One of the evidence-based interventions for premature babies is Kangaroo Mother Care (KMC).
Zubaidah Zubaidah, Ayu Diah Safitri
doaj   +1 more source

Birthing and Parenting a Premature Infant in a Cultural Context [PDF]

, 2016
The purpose of this longitudinal qualitative descriptive study was to explore American Indian (AI) mothers’ perceptions of parenting their premature infants over their first year of life in the context of their culture, including the birth and ...
Theodorou, Christina S., Docherty, Sharron L., Brooks, Jada L., Holdtich-Davis, Diane   +3 more
core   +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

The Effect of Family-centered Care Program on Maternal Attachment in Mothers of Premature Infants

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2017
BACKGROUND AND OBJECTIVE: The birth of a premature infant is associated with long – term hospitalization and separation from family. Hospitalization of the infant affects the attachment between the infant and mother and affects the quality of care given ...
H Zeraati, F Nasimi, J Shahinfar, M Milan Delaiee, A Momenizadeh, A Barfidokht   +5 more
doaj  

ANETODERMA CASE IN A PREMATURE INFANT

Педиатрическая фармакология, 2013
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E. I. Pilguy, L. K. Aslamazyan, A. K. Gevorkyan, Y. V. Rovenskaya   +3 more
doaj   +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

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source