Results 51 to 60 of about 244,067 (290)

Exploring the link between the risk of violent injury in adolescents and historic redlining practices

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract Violent injuries tend to cluster together geospatially. The discriminatory housing practice of redlining undertaken by the United States federal government in the 1930s has been repeatedly linked with various contemporary community‐level disparities.
Samuel J. West   +5 more
wiley   +1 more source

Total parenteral nutrition and carnitine supplementation practices in preterm neonates - results of a national survey [PDF]

open access: yes, 2013
Thesis (M.A.)--Boston UniversityBackground: The goal of postnatal total parenteral nutrition (TPN) in premature neonates (PT) is to mimic the intrauterine environment of the fetus. Micronutrients are essential for optimal development.
Khalid, Sabeen
core   +1 more source

Current status of laboratory and imaging diagnosis of neonatal necrotizing enterocolitis [PDF]

open access: yes, 2018
Necrotizing enterocolitis continues to be a devastating disease process for very low birth weight infants in Neonatal Intensive Care Units. The aetiology and pathogenesis of necrotizing enterocolitis are not definitively understood.
Corsello G   +9 more
core   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue   +16 more
wiley   +1 more source

The evidence for the benefits from breast milk in the neurodevelopment of premature babies – a review of the recent literature [PDF]

open access: yes, 2018
Introduction. The brain in preterm babies is usually not fully developed and therefore early post-term events can have long-lasting neurodevelopment and cognitive outcomes. It is known that cerebral white matter connectivity is important for later intact
Paduraru, Danuta Iulia
core   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

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

open access: yes, 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   +8 more
core   +4 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican 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

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

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