Results 71 to 80 of about 384,008 (281)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman +9 more
wiley +1 more source
Syndrome of Jaundice in Newborns: Approaches to Therapy
Zdorovʹe Rebenka, 2014 The paper presents the mechanisms of hyperbilirubinemia syndrome development in newborns, its clinical and laboratory manifestations and treatment modes. The action of domestic preparation of ursodeoxycholic acid, Ukrliv suspension, is considered.
Ye.I. Yulish
doaj +1 more source
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
Медицинский совет, 2017 In this article the authors provide a detailed description of anatomic and physicological peculiarities of the newborn children, the role of the vernix caseosa, a group of premature children is described as a separate group.
I. I. RYUMINA, V. V. ZUBKOV
doaj +1 more source
Correlation between Penile Length and Anogenital Distance in Term Newborns, Gorgan, 2011 [PDF]
, 2014 Background and purpose: Anogenital distance is an accepted indicator for endogenous or environmental effects of androgens on development of reproductive system in fetus and newborns.
Alaee, E. +2 more
core
Emotional Experiences of Mothers of Newborns Admitted to the NICU [PDF]
, 2016 The transition to parenthood is an emotional life experience. Giving birth to a healthy baby and bringing the child home shortly thereafter is a significant emotional occasion.
Queralt, Andrea
core +2 more sources
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Gestation-wise Reference Ranges of Neutrophil Counts in Indian Newborns
Oman Medical Journal, 2020 In March 2019 issue of the Oman Medical Journal, Das et al, conducted total leukocyte counts, differential counts (lymphocytes and neutrophils), and peripheral blood smear examination in healthy Indian newborns of both sexes, aged 30 to 41 weeks ...
Mahmood Dhahir Al-Mendalawi
doaj +1 more source
Music in the first days of life [PDF]
, 2008 In adults, specific neural systems with right-hemispheric weighting are necessary to process pitch, melody and harmony, as well as structure and meaning emerging from musical sequences. To which extent does this neural specialization result from exposure
Cristina Baldoli +7 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