Results 31 to 40 of about 13,071,153 (288)

Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand

International Journal of Neonatal Screening, 2020
The positive predictive value of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was <2% in New Zealand. This is despite a bloodspot second-tier immunoassay method for 17-hydroxyprogesterone measurement with an ...
Mark R de Hora, Natasha L Heather, Tejal Patel, Lauren G Bresnahan, Dianne Webster, Paul L Hofman   +5 more
doaj   +1 more source

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature

International Journal of Neonatal Screening, 2020
Mucopolysaccharidosis type I (MPS I) is a progressive lysosomal storage disease, with neurological and visceral involvement, in which early diagnosis through newborn screening (NBS) and early treatment can improve outcomes.
Vincenza Gragnaniello, Daniela Gueraldi, Laura Rubert, Francesca Manzoni, Chiara Cazzorla, Antonella Giuliani, Giulia Polo, Leonardo Salviati, Alberto Burlina   +8 more
doaj   +1 more source

Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns

International Journal of Neonatal Screening, 2020
We screened 51,081 newborns for X-linked adrenoleukodystrophy (ALD) using a two-tiered strategy quantifying very long chain lysophosphatadylcholines (LPC).
Patricia L. Hall, Hong Li, Arthur F. Hagar, S. Caleb Jerris, Angela Wittenauer, William Wilcox   +5 more
doaj   +1 more source

Comprehensive Evaluation of Pavement Waterproofing Layer Materials for Bridge and Tunnel Projects [PDF]

E3S Web of Conferences, 2023
In order to achieve the preferential selection of pavement waterproofing layer materials, so that the waterproofing layer material selection is more scientific and objective, eliminating the impact of subjective factors, this paper uses hierarchical ...
Li Zhaoyuan
doaj   +1 more source

Improving Lyme disease testing with data driven test design in pediatrics

Journal of Pathology Informatics, 2023
Diagnostic advances have not kept pace with the expansion of Lyme disease caused by Borrelia burgdorferi and transmitted by ticks. Lyme disease clinical manifestations can overlap with many other diagnoses making Lyme disease a critical part of many ...
Mahmoud Elkhadrawi, Oscar Lopez-Nunez, Murat Akcakaya, Sarah E. Wheeler   +3 more
doaj   +1 more source

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I [PDF]

International Journal of Neonatal Screening, 2020
Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sulfate (DS) and heparan sulfate (HS) are both substrates for α-l-iduronidase (IDUA).
Dawn S. Peck, Jean M. Lacey, Amy L. White, Gisele Pino, April L. Studinski, Rachel Fisher, Ayesha Ahmad, Linda Spencer, Sarah Viall, Natalie Shallow, Amy Siemon, J. Austin Hamm, Brianna K. Murray, Kelly L. Jones, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo, Silvia Tortorelli   +19 more
openaire   +3 more sources

Comparison of the predictive ability for perinatal acidemia in neonates between the NICHD 3-tier FHR system combined with clinical risk factors and the fetal reserve index

PLoS ONE, 2022
Background Electronic fetal monitoring alone is a poor screening test for detecting fetuses at risk of acidemia or asphyxia. We aimed to evaluation of predictive ability of the National Institute of Child Health and Human Development (NICHD) 3-tier fetal
Ninlapa Pruksanusak, Natthicha Chainarong, Siriwan Boripan, Alan Geater   +3 more
doaj   +2 more sources

PENGEMBANGAN INSTRUMEN FOUR TIER-TEST PADA KONSEP USAHA DAN ENERGI [PDF]

, 2020
The feasibility of the four tier-test instrument can be seen through validation results by experts (appraisal). Through validation of experts by using questionnaires, data obtained. The data obtained in the form of qualitative data is then converted into
Okyranida, Indica Yona, Boro, Apolonia Masiona, Astuti, Irnin Agustina Dwi, Indica Yona Okyranida, Apolonia Masiona Boro, Irnin Agustina Dwi Astuti   +5 more
core   +1 more source

Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report

BMC Pediatrics, 2021
Background Cystic Fibrosis (CF) is one of the most prevalent autosomal recessive inherited disease in Caucasians. Rates of CF were thought to be negligible in non-Caucasians but growing epidemiological evidence shows CF is more common in Indian, African,
Bennett O. V. Shum, Glenn Bennett, Akash Navilebasappa, R. Kishore Kumar   +3 more
doaj   +1 more source

Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations

International Journal of Neonatal Screening, 2022
Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias.
Patrice K. Held, Emily Singh, Jessica Scott Schwoerer   +2 more
doaj   +1 more source