نتایج جستجو برای: newborn screening

تعداد نتایج: 275700  

Journal: :Indian journal of pediatrics 2011
Mahendra Kumar Banakar M Formosa

Maternal thyroid disease can affect the newborn baby leading to neonatal hyperthyroidism or hypothyroidism. Babies born to mothers with thyroid disease get thyroid function tests (TFT) done randomly irrespective of the nature of maternal thyroid disease and medication .The aim of this study was to determine which babies are at-risk and need thyroid function monitoring besides a simple Newborn s...

Journal: :Archives of disease in childhood 1996
E Parsons D Bradley A Clarke

Breaking the news about an untreatable disease is always difficult. Every professional involved in this activity will be aware of shortcomings in their practice, but it is possible to develop better practices. We report on a protocol developed during the first four years of the evaluation of a newborn screening programme. Although there may be additional constraints in other areas of medical pr...

Journal: :Journal of the American Medical Informatics Association : JAMIA 2010
Stephen M. Downs Peter C. van Dyck Piero Rinaldo Clement J. McDonald R. Rodrey Howell Alan Zuckerman Gregory J. Downing

Capture, coding and communication of newborn screening (NBS) information represent a challenge for public health laboratories, health departments, hospitals, and ambulatory care practices. An increasing number of conditions targeted for screening and the complexity of interpretation contribute to a growing need for integrated information-management strategies. This makes NBS an important test o...

2017
Ian Brincat Gerald Buhagiar

Neonatal congenital hypothyroidism screening is considered to be one of the most effective newborn screening strategies. Neonatal screening for congenital hypothyroidism involves the analysis of thyroid hormone and thyrotropin levels using an immunoassay based technique. Immunoassays are also prone to analytical problems such as assay interference. Immunoassays used for thyroid hormone measurem...

Journal: :Clinical chemistry 1997
S T Wang S Pizzolato H P Demshar

We used ROC plots to evaluate the clinical performance of the Guthrie, Wallac, and Isolab assays for newborn phenylketonuria (PKU) screening and assessed the screening discriminatory power of these three assays by the area under the ROC plot, Youden's J index, and the likelihood ratio. The use of these plots not only allows us to pinpoint the exact cutoff value in screening, but also provides a...

Journal: :Seminars in perinatology 2015
Bradford L Therrell Carmencita David Padilla J Gerard Loeber Issam Kneisser Amal Saadallah Gustavo J C Borrajo John Adams

Newborn screening describes various tests that can occur during the first few hours or days of a newborn's life and have the potential for preventing severe health problems, including death. Newborn screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system capable of detecting over 50 different conditions. While a number of papers hav...

Journal: :Canadian journal of public health = Revue canadienne de sante publique 2015
Fiona Alice Miller Céline Cressman Robin Hayeems

Newborn bloodspot screening is one of the most enduring and successful population screening initiatives. Yet technological innovation to permit simultaneous measurement of multiple biomarkers - and potentially, entire genomes - has spurred expansion and debate. Through a cross-jurisdictional comparison, we describe the varied roles and reach of screening-related governance structures in the Uni...

Journal: :Children (Basel) 2023

Due to high entry barriers, countries might find it daunting implement the NBS program, especially those just trying start it. This review aims discuss Indonesia’s barriers that hinder newborn screening (NBS) implementation while discussing future implications. Literature in Pubmed and Google Scholar was scoured with keywords such as “Newborn Screening”, “Neonatal “Indonesia”, “Asia Pacific”, “...

2008
Adrian Davis

Address correspondence to: Adrian Davis, Ph.D., Professor, FFPH FSS FRSA, MRC Hearing and Communication Group, University of Manchester, Manchester, M13 9PL, UK, [email protected] Brilliant technology with poor service implementation will not deliver good outcomes, so the task of developing good services to match the new technology needs equal time, skill and commitment. A multicen...

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2014
Vitor Guilherme Brito de Araújo Renata Santarem de Oliveira Kallianna Paula Duarte Gameleira Cátia Barbosa Cruz Adriana Lofrano-Porto

3β-hydroxysteroid dehydrogenase II (3β-HSD) deficiency represents a rare CAH variant. Newborns affected with its classic form have salt wasting in early infancy and genital ambiguity in both sexes. High levels of 17-hydroxypregnenolone (Δ517OHP) are characteristic, but extra-adrenal conversion to 17-hydroxyprogesterone (17OHP) may lead to positive results on newborn screening tests. Filter pape...

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