Results 51 to 60 of about 3,396,540 (313)

Newborn Screening for Congenital Hypothyroidism in Japan

International Journal of Neonatal Screening, 2021
Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment.
K. Minamitani
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

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

International Journal of Neonatal Screening
Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a ...
B. Therrell, Carmencita D. Padilla, G. Borrajo, I. Khneisser, Peter C. J. I. Schielen, J. Knight-Madden, H. Malherbe, Marika K. Kase   +7 more
semanticscholar   +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

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 more
wiley   +1 more source

Universal neonatal hearing screening moving from evidence to practice

, 2004
Recent technological advances have made feasible universal newborn hearing screening and therefore early detection of permanent childhood hearing impairment.
Kennedy, Colin R., McCann, Donna C.
core   +1 more source

Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease

International Journal of Neonatal Screening, 2022
In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to increase its analytical sensitivity in order to accurately differentiate newborns from true Wilson disease (WD) patients.
Chloe Miu Mak, Ching Tung Choi, Tsz Ki Wong, Hanson Heearn Chin, Hillman Kai Yin Lai, Koon Yu Yuet   +5 more
doaj   +1 more source

Genomic sequencing in newborn screening: balancing consent with the right of the asymptomatic at-risk child to be found

European Journal of Human Genetics
In this paper, we explore key aspects of the complex ethical and legal landscape surrounding consent in the context of incorporating genomic sequencing into existing newborn bloodspot screening programs. In particular, we consider the potential impact of
B. Knoppers, A. Bonilha, A. Laberge, Arzoo Ahmed, A. Newson   +4 more
semanticscholar   +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, Anne C. Wheeler, C. Powell, D. Bailey, Lisa M. Gehtland   +16 more
semanticscholar   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source