Results 61 to 70 of about 1,348,248 (398)

Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?

Case Reports in Pediatrics, 2017
Introduction. Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. Case Presentation.
Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra   +2 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number

International Journal of Neonatal Screening, 2021
Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS).
Binod Kumar, Samantha Barton, Jolanta Kordowska, Roger B. Eaton, Anne M. Counihan, Jaime E. Hale, Anne Marie Comeau   +6 more
doaj   +1 more source

Aetiologies after newborn hearing screening [PDF]

, 2014
C
Acke, Frederic, De Leenheer, Els, Dhooge, Ingeborg, Van Hoecke, Helen   +3 more
core   +1 more source

Critical congenital heart disease screening by pulse oximetry in a neonatal intensive care unit. [PDF]

, 2014
ObjectiveCritical congenital heart disease (CCHD) screening is effective in asymptomatic late preterm and term newborn infants with a low false-positive rate (0.035%).
Carrion, V, Lakshminrusimha, S, Manja, V, Mathew, B   +3 more
core   +2 more sources

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

Initial supplementary oxygen concentration for moderate-late preterm infants receiving respiratory support in the delivery room: statistical analysis plan for the multicenter, cluster-randomized crossover AIROPLANE Trial

Trials
Background Moderate-late preterm infants born at 32–35 completed weeks’ gestation constitute a large proportion of all preterm births (
Stacey Peart, Brett J. Manley, Cecilia Moore, Jeanie L. Y. Cheong, Ju Lee Oei, Li Huang, Peter G. Davis, Louise S. Owen, Anneke Grobler   +8 more
doaj   +1 more source

Does mobile phone ownership predict better utilization of maternal and newborn health services? a cross-sectional study in Timor-Leste. [PDF]

, 2016
BackgroundIncreasingly popular mobile health (mHealth) programs have been proposed to promote better utilization of maternal, newborn and child health services.
Gu, Jing, Hofstee, Marisa, Mercer, Mary Anne, Nie, Juan, Thompson, Susan, Unger, Jennifer Anna   +5 more
core   +1 more source

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

Genetics in Medicine, 2019
Early intervention for newborns who are deaf or hard-of-hearing leads to improved language, communication, and social–emotional outcomes. Universal physiologic newborn hearing screening has been widely implemented across the United States with the goal ...
A. Shearer, Jun Shen, S. Amr, S. Amr, C. Morton, C. Morton, Richard J. H. Smith, Richard J. H. Smith   +7 more
semanticscholar   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source