Results 71 to 80 of about 1,360,274 (268)

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program

Nature Medicine
Although genomic sequencing presents groundbreaking newborn screening (NBS) opportunities, critical feasibility and utility questions remain. Here we present initial results from the Early Check program—an observational study assessing the feasibility ...
H. Cope, E. Jalazo, J. S. Berg, Jennifer A. Sullivan, Katerina S. Kucera, Scott M. Shone, Hannah E Frawley, A. Gwaltney, Ana Forsythe, Brooke Migliore, Becca Wright, R. Moultrie, L. Milko, Rebekah S. Zimmerman, P. Kruszka, Sharon F. Suchy, A. Begtrup, Katherine G. Langley, Kristin G. Monaghan, Christina Kraczkowski, Adam J. Guenzel, K. McWalter, Kathleen S. Hruska, D. Bailey, Anne Wheeler, M. Raspa, C. M. Powell, Holly L. Peay   +27 more
semanticscholar   +1 more source

Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland

, 2012
BACKGROUND: Newborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many countries, but there is no ideal protocol suitable for all countries.
Baumgartner, Matthias R, Fingerhut, Ralph, Barben, Juerg, Gallati, Sabina, Baumgartner, Matthias R; https://orcid.org/, SWISS CF SCREENING GROUP,, Schoeni, Martin H, Torresani, Toni, Gallati, S., Fingerhut, R., Torresani, T., Schöni, Martin Heinrich, Barben, J., Baumgartner, M.R., SWISS CF SCREENING GROUP, Schoeni, M.H.   +15 more
core   +1 more source

Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges

Epilepsia Open, EarlyView.
Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across
Jesús Servando Medel‐Matus, Cesar Santana‐Gomez, Ruby G. Escalante, Dominique Duncan, Pedro F. Viana, Giulia Sofia Cereda, Naoto Kuroda, Aristea S. Galanopoulou   +7 more
wiley   +1 more source

Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry

International Journal of Neonatal Screening, 2022
Newborn bloodspot screening (NBS) began as a research project in the Philippines in 1996 and was mandated by law in 2004. The program initially included screening for five conditions, with a sixth added in 2012.
Carmencita D. Padilla, Bradford L. Therrell, Maria Melanie Liberty B. Alcausin, Mary Anne D. Chiong, Mary Ann R. Abacan, Ma. Elouisa L. Reyes, Charity M. Jomento, Maria Truda T. Dizon-Escoreal, Margarita Aziza E. Canlas, Michelle E. Abadingo, J. Edgar Winston C. Posecion, Conchita G. Abarquez, Alma P. Andal, Anna Lea G. Elizaga, Bernadette C. Halili-Mendoza, Maria Paz Virginia K. Otayza, David S. Millington   +16 more
doaj   +1 more source

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center

Orphanet Journal of Rare Diseases
Newborn screening (NBS) programs have significantly improved the health and outcomes of patients with inherited metabolic disorders (IMDs). Methods based on liquid chromatography/mass spectrometry (LC–MS/MS) analysis are viewed worldwide as the gold ...
Simona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, Marianna Alagia, Alessandro Rossi, Chiara Colantuono, M. Cacciapuoti, Patrizia Annunziata, S. Riccardo, Antonio Grimaldi, Tony Fusco, R. De Santis, F. Barretta, Lucia Albano, D. Crisci, F. Vallone, Antonietta Tarallo, M. Cesana, N. Brunetti-Pierri, Giulia Frisso, M. Ruoppolo, D. Cacchiarelli, Giancarlo Parenti   +22 more
semanticscholar   +1 more source

Newborn Screening for Pompe Disease

, 2017
Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing ...
C. Ronald Scott, Roberto Giugliani, null null, Olaf A. Bodamer   +3 more
core   +1 more source

Clinical, Radiologic and Cytologic Predictors of Malignancy in Pediatric Thyroid Nodules: Insights From a 26‐Year Cohort Study

Head &Neck, EarlyView.
ABSTRACT Introduction Thyroid nodules are less common but more often malignant in pediatric patients than in adults. Our objectives were to study the features of benign vs. malignant thyroid nodules in a large pediatric patient cohort. Methods Retrospective observational cohort study. Consecutive patients aged 0.01–17.9 years at evaluation between 1997–
Maxime Gest‐Laurent, Adrien Nguyen Quoc, Christine Lefevre, Laura González‐Briceño, Caroline Thalassinos, Isabelle Flechtner, Dulanjalee Kariyawasam, Yamina Dassa, Magali Viaud, Dinane Samara‐Boustani, Graziella Pinto, Hervé Monpeyssen, Sabine Sarnacki, Vincent Couloigner, Michel Polak, Athanasia Stoupa   +15 more
wiley   +1 more source

Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start

European Thyroid Journal
Background Congenital hypothyroidism (CH) is a preventable cause of neurodevelopmental delay in children, detectable by newborn screening (NBS) programs for CH.
M. Arrigoni, N. Zwaveling-Soonawala, S. Lafranchi, A. V. van Trotsenburg, C. Mooij   +4 more
semanticscholar   +1 more source

Scenario‐Based Guidance for International Growth Standards (GIGS): For Whom, When, and How to Apply the INTERGROWTH‐21st and WHO Child Growth Standards

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To demonstrate when, for whom, and how to apply the INTERGROWTH−21st (IG‐21st) and WHO Child Growth Standards (WHO GS) using a scenario‐based approach with illustrations utilising a sub‐set of data from a multi‐country low birthweight infant prospective cohort.
Eric O. Ohuma, Simon R. Parker, Sara Strout, Bancy Ngatia, Linda Vesel   +4 more
wiley   +1 more source

Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia

American Journal of Human Genetics
Summary Integrating genomic sequencing into newborn screening (NBS) has transformative potential for the identification and management of genetic conditions. Using discrete choice experiment surveys, we elicited the preferences, values, and priorities of
Riccarda Peters, Stephanie Best, Fiona Lynch, D. Vears, L. Downie, Alison D. Archibald, S. Lunke, Zornitza Stark, I. Goranitis   +8 more
semanticscholar   +1 more source