Results 61 to 70 of about 1,360,274 (268)

Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm

, 2012
OBJECTIVE: To quantitate the proportion of infants identified through cystic fibrosis (CF) newborn screening (NBS) by an immunoreactive trypsinogen (IRT)/DNA screening algorithm who have an unclear diagnosis as defined by the findings of an elevated IRT ...
Parad, Richard B., Comeau, Anne Marie
core   +1 more source

Citizen Science Gamers Enable Automated Flow Cytometry Gating Through Machine Learning

Cytometry Part A, EarlyView.
ABSTRACT Machine learning can greatly accelerate biomedical research but is fundamentally constrained by the scarcity of high‐quality labeled data. We introduce a scalable data‐generation framework based on citizen science and apply it to automated flow cytometry gating, a foundational but subjective step in immunology that limits reproducibility ...
Sebastiano Montante, Daniel Yokosawa, Leon Li, Alexander Butyaev, Mehrnoush Malek, Razzi Movassaghi, Quentin Michalchuk, Chieh‐Ting Jimmy Hsu, David Shmil, Albina Rahim, Andrea Cossarizza, Julia Boira Esteban, Kornél Erhart, Bergur Finnbogason, George Kelion, Hjalti Leifsson, Josh Rivers, David Ecker, Attila Szantner, Jérôme Waldispühl, Ryan R. Brinkman   +20 more
wiley   +1 more source

Other title: Financial Review

, 2010
application/pdf; "December 13-14, 2010."; Includes bibliographical references."A Newborn Screening Financial Review Team...met with selected staff members of the newborn screening program of the Kansas Department of Health and Environment (
National Newborn Screening & Genetics Resource Center (U.S.)
core   +1 more source

Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process

International Journal of Neonatal Screening, 2023
Whether or not conditions should be included in publicly funded newborn screening (NBS) programs should be discussed according to objective and transparent criteria. Certain criteria have been developed for the introduction of NBS programs in the context
Keiko Konomura, Eri Hoshino, Kotomi Sakai, Takashi Fukuda, Go Tajima   +4 more
doaj   +1 more source

Newborn Screening for Sickle Cell Disease and Thalassemia.

JAMA Health Forum
Importance Hemoglobin disorders are a considerable public health issue with more than 500 000 affected infants born annually worldwide. First introduced in the 1970s, newborn screening (NBS) for sickle cell disease (SCD) was included in the Recommended ...
Maa-Ohui Quarmyne, Fiona Bock, Sangeetha Lakshmanan, B. Attell, Angela B. Snyder, Jeanne Boudreaux, Sujit Sheth, M. A. Bender, Ashutosh Lal   +8 more
semanticscholar   +1 more source

Spatiotemporal cellular dynamics of the notochord shape intervertebral disc morphogenesis in the mouse embryo through apoptosis and proliferation

Developmental Dynamics, EarlyView.
Abstract Background The notochord is a midline structure essential for vertebrate embryogenesis, contributing to the development of the nervous system, digestive tract, and vertebral column. In particular, notochord signaling is indispensable for proper patterning and coordinated development of alternating vertebrae and intervertebral discs (IVDs ...
Julie Warin, Estelle Balissat, Pauline Colombier, Lily Paillat, Maeva Dutilleul, Anne Camus   +5 more
wiley   +1 more source

Within-subject variability of lung function in newborn screened (NBS) CF infants

7.3 Cystic Fibrosis, 2016
Introduction: Although mean lung function (LF) is stable to two years in NBS CF infants (1), the extent to which LF varies within individuals over time is unknown. Aim: To investigate within-subject change in LF during the first two years. Methods: Forced Expiratory Volume (FEV 0.5 ), Lung Clearance Index (LCI) and plethysmographic Functional ...
Gwyneth Davies, Lena Thia, Ah-Fong Hoo, Paul Aurora, Angie Wade, Andrew Bush, Janet Stocks   +6 more
openaire   +2 more sources

Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns

International Journal of Neonatal Screening
Newborn bloodspot screening for one or more lysosomal storage disorders (NBS-LSD) is currently performed by many public health NBS laboratories globally.
Paul Dantonio, Tracy Klug, Golriz Yazdanpanah, Christopher Haynes, Hui Zhou, Patrick Hopkins, Robert Vogt, Rachel Lee, Carla Cuthbert, Konstantinos Petritis   +9 more
doaj   +1 more source

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

Orphanet Journal of Rare Diseases, 2022
Background Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common.
Xinwen Huang, Dingwen Wu, Lin Zhu, Wenjun Wang, Rulai Yang, Jianbin Yang, Qunyan He, Bingquan Zhu, Ying You, Rui Xiao, Zhengyan Zhao   +10 more
doaj   +1 more source

Importance of Studying Older Siblings of Patients Identified by Newborn Screening: a Single-Center Experience in Mexico

Journal of Inborn Errors of Metabolism and Screening, 2021
Introduction: Any abnormal newborn screening (NBS) test should be subjected to appropriate diagnostic tests and should be followed. Once the newborn has been diagnosed and treated, the family should receive comprehensive genetic services.
Isabel Ibarra-González, Cynthia Fernández-Lainez, Sara Guillén-López, Lizbeth López-Mejía, Leticia Belmont-Martínez, Rosa Itzel Nieto-Carrillo, Marcela Vela-Amieva   +6 more
doaj   +1 more source