Results 1 to 10 of about 50,554 (118)

Incorporating Next‐Generation Sequencing as a Second‐Tier Test for Primary Carnitine Deficiency [PDF]

Molecular Genetics & Genomic Medicine
Background Newborn screening (NBS) for primary carnitine deficiency (PCD) has poor performance. This study aimed to evaluate the feasibility of incorporating next‐generation sequencing (NGS) as a second‐tier PCD test.
Yiming Lin, Zhenzhu Zheng, Weihua Lin, Weilin Peng   +3 more
doaj   +2 more sources

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

International Journal of Neonatal Screening, 2021
Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow.
Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen   +8 more
doaj   +1 more source

Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand

International Journal of Neonatal Screening, 2022
Between 2005 and 2021, 49 cases of classical congenital adrenal hyperplasia were diagnosed in New Zealand, 39 were detected in newborns and 10 were not detected by screening. Currently, for every case of CAH detected by screening, 10 false-positive tests
Mark R. de Hora, Natasha L. Heather, Dianne R. Webster, Benjamin B. Albert, Paul L. Hofman   +4 more
doaj   +1 more source

Analysis of Student’s Conceptual Understanding Using Two-Tier Multiple Choice Diagnostic Test on Acid-Base Topic [PDF]

E3S Web of Conferences, 2023
This study aims to determine students’ understanding of concepts using a two-tier multiple-choice diagnostic test on acid-base material. The number of samples is 31 respondents. This type of research is descriptive qualitative.
Lukum Astin, Karongkong Nisma, Pikoli Masrid, Tangio Julhim S., Mohamad Erni, Rewini Kunusa Wiwin   +5 more
doaj   +1 more source

Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges

International Journal of Neonatal Screening, 2020
Pompe disease (PD) is screened by a two tier newborn screening (NBS) algorithm, the first tier of which is an enzymatic assay performed on newborn dried blood spots (DBS).
Laurie D. Smith, Matthew N. Bainbridge, Richard B. Parad, Arindam Bhattacharjee   +3 more
doaj   +1 more source

Quantitative Determination of Branched-Chain Amino Acids in Dried Blood Spot Samples by LC-MSMS and its Application in Diagnosis and Follow-Up of Chilean Patients with Maple Syrup Urine Disease

Journal of Inborn Errors of Metabolism and Screening, 2021
Elevation of branched-chain amino acids (BCAAs) in biological fluids indicates a deficiency in the branched-chain ketoacid dehydrogenase complex, which causes maple syrup urine disease (MSUD).
K. Fuenzalida, A. Valiente, A. Faundez, P. Guerrero, V. Soto, M.J. Leal-Witt, J.F. Cabello, V. Cornejo   +7 more
doaj   +1 more source

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