Results 141 to 150 of about 1,481,989 (336)
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model
Annals of Neurology, EarlyView.Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins +104 more
wiley +1 more source
A Proposal for a New Method of Evaluation of the Newborn Infant
Anesthesia and Analgesia, 2015 Virginia Apgar
semanticscholar +1 more source
The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy
Annals of Neurology, EarlyView.Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva +13 more
wiley +1 more source
Pregnancy lipidomic profiles and DNA methylation in newborns from the CHAMACOS cohort. [PDF]
, 2019 Lipids play a role in many biological functions and the newly emerging field of lipidomics aims to characterize the varying classes of lipid molecules present in biological specimens.
Bradman, Asa +5 more
core
Advanced NanoBiomed Research, EarlyView.This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari +5 more
wiley +1 more source
Revista Paulista de PediatriaObjective: To describe trends and composition of infant mortality rate in the State of São Paulo, from 1996 to 2012. Methods: An ecological study was conducted, based on official secondary data of births and infant deaths of residents in São Paulo, from
Kelsy Catherina Nema Areco +2 more
doaj +1 more source
Screening for congenital hypothyroidism in Maltese newborns using cord blood [PDF]
, 1996 Routine screening for congenital hypothyroidism (CHT) has been introduced because clinical features of CHT may not be evident before the baby is a few weeks old and treatment at this stage may already be too late.
Felice, Alex +3 more
core
Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection
The Anatomical Record, EarlyView.Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson +6 more
wiley +1 more source
Milk: Nature's Unique Nutritional Package
Animal Research and One Health, EarlyView.ABSTRACT Plant‐based beverages that attempt to mimic milk are increasingly popular with consumers, but there are profound differences in nutritional composition and microstructure compared to milk. A structural nutrition approach is needed to understand the effect on digestibility of microstructures, bioaccessibility and bioavailability of components ...
David W. Everett, Caroline Thum
wiley +1 more source
Hypophosphatasia in a newborn infant
The Turkish Journal of Pediatrics, 1995 Infantile type hypophosphatasia, an autosomal recessive disease with severe clinical manifestations, is characterized biochemically by subnormal activities of circulating alkaline phosphatase.
G Tekinalp +4 more
doaj