Results 31 to 40 of about 1,245,890 (249)

Ethical and Psychosocial Implications of Genomic Newborn Screening

International Journal of Neonatal Screening, 2021
The potential for genomic screening of the newborn, specifically adding genomic screening to current newborn screening (NBS), raises very significant ethical issues.
Harvey L. Levy
doaj   +1 more source

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency

, 2012
Severe combined immunodeficiency (SCID) is a Primary Immune Deficiency that is under consideration for population-based newborn screening (NBS) by many NBS programs, and has recently been recommended for inclusion in the US uniform panel of newborn ...
Pai, Sung-Yun, DeMaria, Alfred, Meissner, H. Cody, Bonilla, Francisco A., Cooper, Ellen Rae, Pasternack, Mark S., Notarangelo, Luigi D., Sahai, Inderneel, Comeau, Anne Marie, Hale, Jaime E, Eaton, Roger B.   +10 more
core   +1 more source

Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey

International Journal of Neonatal Screening
From 2008 to 2024, the Newborn Screening Translational Research Network (NBSTRN), part of the National Institute of Child Health and Human Development (NICHD) Hunter Kelly Newborn Screening Program, served as a robust infrastructure to facilitate ...
Yekaterina Unnikumaran, Mei Lietsch, Amy Brower   +2 more
doaj   +1 more source

Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries

International Journal of Neonatal Screening, 2020
Newborn screening (NBS) for Krabbe disease (KD) is currently underway in eight states in the USA, and there is continued discussion of whether to implement KD NBS in additional states.
Karlita Blackwell, Michael H. Gelb, Anna Grantham, Natasha Spencer, Christin Webb, Tara West   +5 more
doaj   +1 more source

Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS

International Journal of Neonatal Screening, 2023
In the Norwegian newborn screening (NBS) program, genetic testing has been implemented as a second or third tier method for the majority of NBS disorders, significantly increasing positive predictive value (PPV).
Silje Hogner, Emma Lundman, Janne Strand, Mari Eknes Ytre-Arne, Trine Tangeraas, Asbjørg Stray-Pedersen   +5 more
doaj   +1 more source

Sweat testing infants detected by cystic fibrosis newborn screening

, 2012
OBJECTIVE: Describe and define limitations of early pilocarpine iontophoresis (sweat testing) for cystic fibrosis (CF) newborn screening (NBS). STUDY DESIGN: Population-based results from follow-up of CF NBS-positive newborns.
Dorkin, Henry L., Gerstle, Robert, O'Sullivan, Brian P., Parad, Richard B., Dovey, Mark, Comeau, Anne Marie, Martin, Thomas   +6 more
core   +1 more source

Indifferent or Uninformed? Reflections of Health Professionals on Parental Education and Consent for Expanded Newborn Screening in Israel, 2008–2016

International Journal of Neonatal Screening, 2017
Background: This study explored the views of health professionals regarding parental education and informed consent for newborn screening (NBS) following the expansion of the NBS program in Israel.
Shlomit Zuckerman
doaj   +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

Gonadotropin Suppression During Mini-Puberty as an Early Biomarker of Classic 21-Hydroxylase Deficiency. [PDF]

Endocrinol Diabetes Metab
To prevent life‐threatening adrenal crisis and to help perform appropriate sex assignment in affected female patients, newborn screening for 21‐hydroxylase deficiency (21OHD) relies on 17‐hydroxyprogesterone but has a high false‐positive rate. Neonatal LH and FSH suppression during mini‐puberty clearly distinguished classic 21OHD from non‐classic and ...
Iemura R, Suzuki Y, Gau M, Orimoto R, Yamano H, Nakatani H, Kirino S, Saito Y, Adachi E, Tsuji-Hosokawa A, Kashimada K, Takasawa K.   +11 more
europepmc   +2 more sources

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source