Results 31 to 40 of about 2,231,771 (385)

Congenitally deaf children's care trajectories in the context of universal neonatal hearing screening: a qualitative study of the parental experiences [PDF]

, 2011
The objective of this study is to examine the early care trajectories of congenitally deaf children from a parental perspective, starting with universal neonatal hearing screenings.
Desnerck, Greetje, Hardonck, Stefan, Loots, Gerrit, Louckx, Fred, Sigurjonsdottir, Hanna Bjorg, Van Hove, Geert, Vankerschaver, Erwin, Vanroelen, Christophe   +7 more
core   +2 more sources

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

Archives of Disease in Childhood, 2019
Background In 2002, a nationwide screening for congenital adrenal hyperplasia (CAH) was introduced in the Netherlands. The aim of our study is to evaluate the validity of the neonatal screening for CAH and to assess how many newborns with salt-wasting ...
A. A. van der Linde, Y. Schönbeck, H. J. van der Kamp, E. L. van den Akker, M. V. van Albada, A. Boelen, M. Finken, S. Hannema, Gera Hoorweg-Nijman, R. Odink, P. Schielen, Saartje Straetemans, P. V. van Trotsenburg, H. Claahsen-van der Grinten, P. Verkerk   +14 more
semanticscholar   +1 more source

Evaluation of critical congenital heart defects screening using pulse oximetry in the neonatal intensive care unit. [PDF]

, 2017
ObjectiveTo evaluate the implementation of early screening for critical congenital heart defects (CCHDs) in the neonatal intensive care unit (NICU) and potential exclusion of sub-populations from universal screening.Study designProspective evaluation of ...
Allen, D, Assing, E, Axelrod, R, Blau, J, Chandra, S, Cohen, M, Fofah, O, Garg, LF, Giuliano, M, Govindaswami, B, Grazel, R, Hassinger, D, Hudome, S, Jegatheesan, P, Koppel, R, Kumar, P, Lakshminrusimha, S, Lohr, J, McClure, D, Spillane, N, Van Naarden Braun, K   +20 more
core   +2 more sources

Critical congenital heart disease screening by pulse oximetry in a neonatal intensive care unit. [PDF]

, 2014
ObjectiveCritical congenital heart disease (CCHD) screening is effective in asymptomatic late preterm and term newborn infants with a low false-positive rate (0.035%).
Carrion, V, Lakshminrusimha, S, Manja, V, Mathew, B   +3 more
core   +2 more sources

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

BMC Medical Genetics, 2018
Background Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively); a defect in the ...
Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu   +5 more
doaj   +1 more source

The Neonatal Screening Program in Brazil, Focus on Sickle Cell Disease (SCD)

International Journal of Neonatal Screening, 2019
Since 2001, the Brazilian Ministry of Health has been coordinating a National Neonatal Screening Program (NNSP) that now covers all the 26 states and the Federal District of the Brazilian Republic and targets six diseases including sickle cell disease ...
A. Silva-Pinto, Maria Cândida Alencar de Queiroz, Paula Juliana Antoniazzo Zamaro, M. Arruda, H. Pimentel dos Santos   +4 more
semanticscholar   +1 more source

Transient evoked otoacoustic emissions testing for screening of sensorineural deafness in puppies [PDF]

, 2011
<p><b>Background:</b> Transient evoked otoacoustic emissions (TEOAE) are widely used for human neonatal deafness screening, but have not been reported for clinical use in dogs.</p> <p><b>Hypothesis/Objectives:< ...
Ahlstrom, Branis, De Capua, Doyle, Famula, Hall, Igarashi, Kemp, Korres, Lonsbury-Martin, Lonsbury-Martin, Lurie, Maxon, Platt, Rhodes, Schemera, Sims, Sockalingam, Strain, Strain, Strain, Strain, Ter Haar, Wilkes, Wilson, Wood   +25 more
core   +1 more source

Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

Genetics and Molecular Biology, 2018
We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these
E. Camargo Neto, J. Schulte, Jamile Pereira, H. Bravo, Claudio Sampaio-Filho, R. Giugliani   +5 more
semanticscholar   +1 more source

Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide

Journal of Community Genetics, 2020
Screening for rare diseases first began more than 50 years ago with neonatal bloodspot screening (NBS) for phenylketonuria, and carrier screening for Tay-Sachs disease, sickle cell anaemia and β-thalassaemia. NBS’s primary aim is health gain for children,
M. Cornel, T. Rigter, M. Jansen, L. Henneman   +3 more
semanticscholar   +1 more source

Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency

Molecular Genetics & Genomic Medicine, 2021
Background Rare studies focused on the tandem mass spectrometry (MS/MS) findings for the primary carnitine deficiency (PCD) in the neonates in China mainland.
Yao Chen, Qingying Lin, Yinglin Zeng, Xiaolong Qiu, Guanghua Liu, Wenbin Zhu   +5 more
doaj   +1 more source