Results 91 to 100 of about 1,324,038 (335)

Inhaled nitric oxide in premature infants: effect on tracheal aspirate and plasma nitric oxide metabolites. [PDF]

open access: yes, 2010
ObjectiveInhaled nitric oxide (iNO) is a potential new therapy for prevention of bronchopulmonary dysplasia and brain injury in premature infants. This study examined dose-related effects of iNO on NO metabolites as evidence of NO delivery.Study designA ...
Ballard, PL   +7 more
core  

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

Impact of deployment of “Stork Network” in hospitalizations in the Neonatal Intensive Care Unit

open access: yesRev Rene, 2016
Objective: to assess the impact of the deployment of “Stork Network” (Rede Cegonha) in hospitalizations in the Neonatal Intensive Care Unit. Methods: a retrospective cross-sectional study with 283 medical records of newborns hospitalized in neonatal ...
Sandra Mara Aparecida dos Santos de Andrade   +5 more
doaj   +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

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

Infant self-regulation and body mass index in early childhood [PDF]

open access: yes, 2016
BACKGROUND: Poor self-regulation during preschool and early school age years is associated with rapid weight gain. However, the association between self-regulatory capacities in infancy and weight status in early childhood has not been well studied ...
Peacock-Chambers, Elizabeth Marcela
core   +1 more source

Gray matter injury associated with periventricular leukomalacia in the premature infant

open access: yesActa Neuropathologica, 2007
Neuroimaging studies indicate reduced volumes of certain gray matter regions in survivors of prematurity with periventricular leukomalacia (PVL). We hypothesized that subacute and/or chronic gray matter lesions are increased in incidence and severity in ...
C. Pierson   +6 more
semanticscholar   +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

ANETODERMA CASE IN A PREMATURE INFANT

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