Results 51 to 60 of about 1,922,511 (410)

Quantitative characterization of the urine and serum metabolomes of children is essential for ‘omics’ studies

BMC Medicine, 2018
Understanding the long-term health impacts of the early-life exposome requires the characterization and assimilation of multi ‘omics’ data to ultimately link molecular changes to exposures.
Alicia DiBattista, Pranesh Chakraborty
doaj   +1 more source

A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check

International Journal of Neonatal Screening, 2021
Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check (EC) research study.
Katerina S. Kucera, Jennifer L Taylor, Veronica R Robles, K. Clinard, Brooke Migliore, B. Boyea, K. Okoniewski, M. Duparc, C. Rehder, Scott M Shone, Zheng Fan, M. Raspa, H. Peay, A. Wheeler, C. Powell, D. Bailey, Lisa M Gehtland   +16 more
semanticscholar   +1 more source

Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]

, 2010
Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
Bonfig, W., Schwarz, H. P.
core   +1 more source

Robert Guthrie and the Trials and Tribulations of Newborn Screening

International Journal of Neonatal Screening, 2021
Routine newborn screening for many disorders is now so ingrained in newborn care that there is no question about whether it should be done. However, acceptance of newborn screening was not guaranteed when Robert Guthrie introduced it for phenylketonuria (
H. Levy
semanticscholar   +1 more source

The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices

Frontiers in Immunology, 2020
Severe combined immunodeficiency (SCID) is T cell development disorders in the immune system and can be detected at birth. As of December 2018, all 53 newborn screening (NBS) programs within the United States and associated territories offer universal ...
Ruthanne Sheller, Jelili Ojodu, Emma Griffin, Sari Edelman, Careema Yusuf, Trey Pigg, Alissa Huston, Brian Fitzek, John G. Boyle, Sikha Singh   +9 more
doaj   +1 more source

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

International Journal of Neonatal Screening, 2022
Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are missed.
Martin Kharrazi, Charlene Sacramento, Anne Marie Comeau, Jaime E. Hale, Michele Caggana, Denise M. Kay, Rachel Lee, Brendan Reilly, John D. Thompson, Samya Z. Nasr, Mary Kleyn, Gary Hoffman, Mei W. Baker, Colleen Clarke, Cheryl L. Harris, M. Christine Dorley, Hilary Fryman, Ankit Sutaria, Amy Hietala, Holly Winslow, Holly Richards, Bradford L. Therrell   +21 more
doaj   +1 more source

The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: A cohort study [PDF]

, 2016
Background - There is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns. We evaluated the impact of false positive newborn screening results for medium-chain acyl-CoA
Aizeddin Mhanni, Anne-Marie Laberge, Annette Feigenbaum, Astrid Guttmann, Beth K. Potter, Brenda J. Wilson, Cheryl Rockman-Greenberg, Chitra Prasad, Christine Davies, Deshayne B. Fell, Doug Coyle, Fiona A. Miller, John J. Mitchell, Jonathan B. Kronick, Kumanan Wilson, Linda Dodds, Maria D. Karaceper, Marni Brownell, Meranda Nakhla, null null, Pranesh Chakraborty, Rebecca Sparkes, Scott D. Grosse, Steven Hawken   +23 more
core   +2 more sources

Newborn hearing screening

Srpski arhiv za celokupno lekarstvo, 2007
Introduction: Prevalence of sensorineural hearing loss is 1-3 per 1,000 newborns. Transient evoked otoacoustic emission (TEOAE) and automated auditory brain stem responses (AABR) are most frequently used methods in newborn hearing screening programmes. Objective.
Snezana Babac, Zvezdara Ivanković, Dragoslava Djeric   +2 more
openaire   +5 more sources

Newborn screening for spinal muscular atrophy : the views of affected families and adults [PDF]

, 2017
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria.
Boardman, Felicity K., Griffiths, Frances, Young, Philip J.   +2 more
core   +1 more source

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project

International Journal of Neonatal Screening, 2023
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene.
Farshad Niri, Jessie Nicholls, Kelly Baptista Wyatt, Christine Walker, Tiffany Price, Rhonda Kelln, Stacey Hume, Jillian Parboosingh, Margaret Lilley, Hanna Kolski, Ross Ridsdale, Andrew Muranyi, Jean K. Mah, Dennis E. Bulman   +13 more
doaj   +1 more source