Results 101 to 110 of about 1,812,268 (301)

Early‐Life Manganese Overexposure Activates Microglial Phagocytosis through the YY1/TREM2 Axis Leading to Hippocampal Synaptic Remodeling in Mice

open access: yesAdvanced Science, EarlyView.
Early‐life manganese exposure induces behavioral deficits and aberrant hippocampal synaptic remodeling by enhancing microglial phagocytosis in young adult male mice. Mechanistically, manganese promotes Yin Yang 1 (YY1)/triggering receptor expressed on myeloid cells 2 (TREM2) signaling through enhanced HIF1α‐mediated transcription and suppressed SMURF2 ...
Keyu Chen   +4 more
wiley   +1 more source

Mortality and Factors Associated with Death in Children with Congenital Gastrointestinal Malformations—A Five-Year Retrospective Study from Romania (2020–2024)

open access: yesChildren
Background/Objectives: Congenital gastrointestinal malformations (CGIMs) remain a significant cause of pediatric mortality, particularly during the neonatal period in resource-limited settings.
Iulia Stratulat-Chiriac   +9 more
doaj   +1 more source

Competing Tensions: Nurse Perceptions of Family-Centered Care and Parents' Needs in Neonatal Care

open access: yes
Background: Family-centered care is founded upon collaboration between parents and healthcare professionals, caring for a child and parents as one entity.
Bloomer, Melissa   +2 more
core   +1 more source

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

open access: yesAmerican 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   +4 more
wiley   +1 more source

Our Neonatal Surgery Experiences in Somalia. [PDF]

open access: yesJ Indian Assoc Pediatr Surg, 2022
Kart Y, Ugur C.
europepmc   +1 more source

National performance indicators to support neonatal hearing screening in Australia [PDF]

open access: yes, 2013
This paper presents a set of performance indicators for monitoring neonatal hearing screening activity in Australia at a national level, to help measure how well neonatal hearing screening is achieving its aims.SummaryEach year in Australia ...

core  

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert   +31 more
wiley   +1 more source

Association of prematurity with complications and failure to rescue in neonatal surgery. [PDF]

open access: yesJ Pediatr Surg, 2022
Mehl SC   +8 more
europepmc   +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

open access: yesAmerican 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   +10 more
wiley   +1 more source

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