Results 81 to 90 of about 231,985 (288)

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff   +8 more
wiley   +1 more source

Associations between prematurity, postpartum anxiety, neonatal intensive care unit admission, and stress

open access: yesFrontiers in Psychiatry
IntroductionIt is well established that a premature birth increases the likelihood of developing anxiety during the postpartum period, and that the environment of the neonatal intensive care unit (NICU) might be a contributing factor.
Semra Worrall   +6 more
doaj   +1 more source

ANETODERMA CASE IN A PREMATURE INFANT

open access: yesПедиатрическая фармакология, 2013
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E. I. Pilguy   +3 more
doaj   +1 more source

Therapeutic Environment and Premature newborns Development [PDF]

open access: yes, 2019
Introduction: Prematurity is the leading cause of neonatal mortality, however, the survival of preterm infants is guaranteed. Prolonged exposure to numerous sensory stimuli during early neonatal intensive care units contributes to the increased ...
Calado, Gabriela, Costa, Mónica
core   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell   +21 more
wiley   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes   +4 more
wiley   +1 more source

Different Effects of Premature Infant Formula and Breast Milk on Intestinal Microecological Development in Premature Infants

open access: yesFrontiers in Microbiology, 2020
Intestinal microecology has been shown to participate in the pathogenesis of many diseases through different pathways, and the intestinal microecology of premature infants is significantly different from full-term infants.
Cheng Chen   +7 more
doaj   +1 more source

The Association Between Advanced Maternal Age and Short Interpregnancy Intervals on Preterm Labor [PDF]

open access: yes, 2019
Background: Preterm birth is the leading cause of neonatal and infant mortality and has become a major health concern due to the increasing rates of infant deaths in the United States (WHO, 2017). Studying maternal risk factors for preterm labor provides
Burns, Hannah N., DuChanois, Kristi L.
core   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato   +2 more
wiley   +1 more source

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

open access: yesPLoS 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   +5 more
doaj   +1 more source

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