Results 91 to 100 of about 1,922,511 (410)
Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy
International Journal of Neonatal Screening, 2020 Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years.
P. Held, I. Bird, N. Heather
semanticscholar +1 more source
Newborn hearing screening in Hong Kong [PDF]
, 2006 OBJECTIVES. To review studies on newborn hearing screening in Hong Kong and the current evidence on the cost-effectiveness of universal newborn hearing screening programmes and to determine their value and the best model for such a programme in Hong Kong.
Lam, BCC
core
Neonatal cytokines and chemokines and risk of Autism Spectrum Disorder: the Early Markers for Autism (EMA) study: a case-control study. [PDF]
, 2014 BackgroundBiologic markers of infection and inflammation have been associated with Autism Spectrum Disorders (ASD) but prior studies have largely relied on specimens taken after clinical diagnosis.
Ashwood, Paul +8 more
core +3 more sources
Arthritis Care &Research, EarlyView.Objective This study analyzed longitudinal trajectories of soluble Flt1 (sFlt1) levels, placenta growth factor (PlGF) levels, and sFlt1:PlGF ratios in a cohort of pregnant patients with systemic lupus erythematosus (SLE). Methods Blood samples were collected (14–18, 24–26, 30–32, 34–36, and 38–40 weeks), stored at −80°C, and evaluated for serum levels ...
Nilson R. de Jesús +7 more
wiley +1 more source
Newborn Screening for Pompe Disease
International Journal of Neonatal Screening, 2020 Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles.
Takaaki Sawada +2 more
semanticscholar +1 more source
Arthritis Care &Research, EarlyView.Objective Autoimmune rheumatic diseases commonly affect individuals of childbearing age, with historically increased adverse pregnancy outcomes in this group. The advent of disease‐modifying antirheumatic drugs (DMARDs) has fostered more suitable conditions for pregnancy; however, this is accompanied by challenges in ensuring safe use in reproductive ...
Athena Chin +4 more
wiley +1 more source
CDC’s Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy
International Journal of Neonatal ScreeningSpinal muscular atrophy (SMA) was added to the HHS Secretary’s Recommended Uniform Screening Panel for newborn screening (NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage.
Francis K. Lee +8 more
doaj +1 more source
Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening
Journal of Inborn Errors of Metabolism and Screening, 2016 The isodecyl neopentanoate is an ingredient used in the cosmetic industry to prepare a nipple fissure balm. We report on 12 newborns that showed elevated C5-acylcarnitine levels upon newborn screening following treatment with balm.
Sara Poggiali BSc, MT +13 more
doaj +1 more source
The First Year Experience of Newborn Screening for Pompe Disease in California
International Journal of Neonatal Screening, 2020 The California Department of Public Health started universal newborn screening for Pompe disease in August 2018 with a two-tier process including: (1) acid alpha-glucosidase (GAA) enzyme activity assay followed by, (2) GAA gene sequencing analysis.
Hao Tang +6 more
semanticscholar +1 more source
Survey of Italian pediatricians' perspectives and knowledge about neonatal screening [PDF]
, 2015 Background: The goal of newborn screening is early identification of babies with a high risk for disorders that may not be clinically evident at birth, but have severe consequences if untreated. New insight into inherited diseases and the ability to test
Burlina, A., CORSELLO, Giovanni
core +2 more sources