Results 91 to 100 of about 240,337 (314)

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

First-Pass Meconium Samples from Healthy Term Vaginally-Delivered Neonates : An Analysis of the Microbiota [PDF]

, 2015
Acknowledgments The authors would like to thank the parents who consented to provide samples with limited notice at an emotional and stressful time. This work was supported entirely from personal donations to the neonatal endowments fund at Aberdeen ...
Berry, Susan H, Hansen, Richard, Hold, Georgina L, Khan, Shoaib, Martin, Jenny C, Munro, Michael J, Okpapi, Augusta, Scott, Karen P, Stevenson, Matthew   +8 more
core   +5 more sources

SUPPORTing Premature Infants [PDF]

Pediatrics, 2013
* Abbreviations: OHRP — : Office for Human Research Protections SUPPORT — : Surfactant Positive Pressure, and Oxygenation Randomized Trial The Surfactant, Positive Pressure, and Oxygenation Randomized Trial (SUPPORT) tried to determine the safest dose of oxygen for premature infants.
openaire   +2 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The effectiveness of video interaction guidance in parents of premature infants: A multicenter randomised controlled trial

BMC Pediatrics, 2012
Background Studies have consistently found a high incidence of neonatal medical problems, premature births and low birth weights in abused and neglected children.
Tooten Anneke, Hoffenkamp Hannah N, Hall Ruby AS, Winkel Frans, Eliëns Marij, Vingerhoets Ad JJM, van Bakel Hedwig JA   +6 more
doaj   +1 more source

A study to explore mothers' and fathers' shared and individual experiences of premature birth : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Psychology at Massey University, Albany, New Zealand [PDF]

, 2005
This qualitative research project using some of the methodologies of Grounded Theory looked at five couples' experiences of premature birth, in particular comparing and contrasting the experiences of mothers and fathers.
Lomas, Michele
core  

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

Australian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong, Fiona Mensah, Elodie O'Connor, Shuaijun Guo, Sharon Goldfeld, Meredith O'Connor, Cindy Pham, Sarah Gray   +7 more
wiley   +1 more source

T. rex cognition was T. rex‐like—A critical outlook on diverging views of the neurocognitive evolution in dinosaurs

The Anatomical Record, EarlyView.
Abstract A recent debate has emerged between Caspar et al. (2024) and Herculano‐Houzel (2023) on inferring extinct dinosaur cognition by estimating brain neuron counts. While thought‐provoking, the discussion largely overlooks the function of cognition, as well as partly neglects the difficulties involved in estimating neuron numbers, which according ...
Thomas Rejsenhus Jensen, Ivo Jacobs, Kristina Kverková, Lona Lalić, Alexandra Polonyiová, Patrik Stehlík, Stephan A. Reber, Mathias Osvath   +7 more
wiley   +1 more source

Twin pregnancies and the limits of the energetics of gestation and growth hypothesis

The Anatomical Record, EarlyView.
Abstract The “Energetics of Gestation and Growth” (EGG) hypothesis proposes that human birth timing and the associated secondary altriciality of human newborns is determined by limits in maternal metabolic capacity. According to this model, labor is triggered when the increasing fetal energy requirements exceed the expectant mother's maximum sustained ...
Cédric Cordey, Nicole M. Webb, Martin Haeusler   +2 more
wiley   +1 more source

The fall and rise of US inequities in premature mortality: 1960-2002.

PLoS Medicine, 2008
BackgroundDebates exist as to whether, as overall population health improves, the absolute and relative magnitude of income- and race/ethnicity-related health disparities necessarily increase-or decrease.
Nancy Krieger, David H Rehkopf, Jarvis T Chen, Pamela D Waterman, Enrico Marcelli, Malinda Kennedy   +5 more
doaj   +1 more source