Results 41 to 50 of about 291,886 (306)
Jornal de Pediatria (Versão em Português), 2013 Objective: : To analyze the implementation of a protocol proposed by the Brazilian National Health Surveillance Agency (Agência Nacional de Vigilância Sanitária – ANVISA) to improve sepsis diagnosis in very low birth weight newborns.
Maria Cristina F. Guedes Pinto +2 more
doaj +1 more source
Cerebellar growth in very low birth weight infants [PDF]
Journal of Perinatology, 2011 The aim of this study was to assess cerebellar growth of very low birth weight infants from birth to discharge and compare it with term infants.Very low birth weight infants were matched by gender, adequacy of weight to gestational age at birth and postmenstrual ages at hospital discharge to term newborns. Exclusion criteria were central nervous system
E, Jaeger, R C, Silveira, R S, Procianoy
openaire +2 more sources
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
DNA methylation and socioeconomic status in a Mexican-American birth cohort. [PDF]
, 2018 Background: Maternal social environmental stressors during pregnancy are associated with adverse birth and child developmental outcomes, and epigenetics has been proposed as a possible mechanism for such relationships.
Coker, Eric +4 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
Children, 2022 The prevalence of postnatal growth faltering (PGF) in preterm infants with very low birth weight (VLBW) (
Lara González-García +10 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Saudi Journal for Health SciencesBackground: Very low birth weight (VLBW) is defined as a birth weight
Mohammad Abdulaziz Alhasoon +7 more
doaj +1 more source
Homologous human milk supplement for very low birth weight preterm infant feeding
Revista Paulista de Pediatria, 2015 OBJECTIVE: To develop a homologous human milk supplement for very low-birth weight infant feeding, using an original and simplified methodology, to know the nutritional composition of human milk fortified with this supplement and to evaluate its ...
Thayana Regina de Souza Grance +3 more
doaj +1 more source