Results 51 to 60 of about 2,182,083 (430)

Risk factors for sensorineural hearing loss among high-risk infants in Golestan province, Iran in 2010 - 2011 [PDF]

, 2015
Background: Hearing impairment, as one of the most common birth defects, is a hidden disability with negative impacts on speech and cognitive development. Objectives: The aim of this study was to assess the prevalence of sensorineural hearing loss (SNHL)
Alaee, E., Fouladinejad, M., Sirati, M., Taziki, M.H.   +3 more
core   +2 more sources

Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation

Translational Psychiatry, 2023
Large deletions at chromosome 22q11.2 are known to cause severe clinical conditions collectively known as 22q11.2 deletion syndrome. Notwithstanding the pathogenicity of these deletions, affected individuals are typically diagnosed in late childhood or ...
Julie Courraud, Francesco Russo, Gonçalo Espregueira Themudo, Susan Svane Laursen, Andrés Ingason, David M. Hougaard, Arieh S. Cohen, Thomas Werge, Madeleine Ernst   +8 more
doaj   +1 more source

Sensitive and Robust LC-MS/MS Assay to Quantify 25-Hydroxyvitamin D in Leftover Protein Extract from Dried Blood Spots

International Journal of Neonatal Screening, 2021
Neonatal dried blood spots (DBS) provide a remarkable resource for biobanks. These microsamples can provide information related to the genetic correlates of disease and can be used to quantify a range of analytes, such as proteins and small molecules ...
Sanne Grundvad Boelt, Lars Melgaard, Marta Jadwiga Thorbek, Nadia Sara Jensen MacSween, John J. McGrath, Arieh S. Cohen   +5 more
doaj   +1 more source

Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?

European Journal of Endocrinology, 2017
When newborn screening (NBS) for congenital hypothyroidism (CH) using thyroid-stimulating hormone (TSH) as a primary screening test was introduced, typical TSH screening cutoffs were 20-50 U/L of whole blood.
S. Lain, C. Trumpff, S. Grosse, A. Olivieri, G. Van Vliet   +4 more
semanticscholar   +1 more source

Predicting Adverse Neonatal Outcomes for Preterm Neonates with Multi-Task Learning [PDF]

arXiv, 2023
Diagnosis of adverse neonatal outcomes is crucial for preterm survival since it enables doctors to provide timely treatment. Machine learning (ML) algorithms have been demonstrated to be effective in predicting adverse neonatal outcomes. However, most previous ML-based methods have only focused on predicting a single outcome, ignoring the potential ...
arxiv  

Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years [PDF]

, 2010
Purpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient ...
Blom, Burtis, Chamberlin, Chamberlin, Chamberlin, Chien, Choi, Choi, Dong Hwan Lee, Gaull, Gaull, Gaull, Harvey Mudd, Kim, Labrune, Lee, Lee, Lee, Mudd, Mudd, Mudd, Nagao, Ohura, Se Jung Oh, Sturman, Ubagai, Yong Hee Hong, Yong Wha Lee   +27 more
core   +1 more source

Neonatal screening

The Turkish Journal of Pediatrics, 2003
Neonatal screening (NS) is a medical act in the context of preventive medicine aimed at the early identification of infants affected by certain conditions that threaten their life and long-term health, for which a timely intervention can lead to a significant reduction of morbidity, mortality and associated disabilities.
openaire   +3 more sources

Congenital hypothyroidism after newborn screening program reorganization in the Apulia region

Italian Journal of Pediatrics, 2022
Background Congenital hypothyroidism (CH) is the most frequent congenital endocrine disorder. The purpose of the present study was to evaluate the incidence and etiological classification of CH in Apulia in a three-year period according to the ...
Simonetta Simonetti, Gabriele D’Amato, Benedetta Esposito, Mariangela Chiarito, Domenico Dentico, Tania Lorè, Roberta Cardinali, Silvia Russo, Nicola Laforgia, Maria Felicia Faienza   +9 more
doaj   +1 more source

Trial protocol OPPTIMUM : does progesterone prophylaxis for the prevention of preterm labour improve outcome? [PDF]

, 2012
Background Preterm birth is a global problem, with a prevalence of 8 to 12% depending on location. Several large trials and systematic reviews have shown progestogens to be effective in preventing or delaying preterm birth in selected high risk women ...
A Shennan, American College of Obstetricians and Gynecologists, Andrew Shennan, Anon, AT Northen, BAPM/RCPCH Working Group Report, D Farine, D Wolke, EB da Fonseca, EB Fonseca, H Honest, IR Edwards, Jane E Norman, JE Norman, JM Dodd, JM Dodd, John Norrie, L Sanchez-Ramos, M Arbyn, M Junpeng, March of Dimes Foundation, N Modi, Neil Marlow, Neil Sebire, PA Lachenbruch, Phillip Bennett, PJ Meis, R Romero, RL Goldenberg, RN Hoover, S Kenyon, SL Kenyon, Sonia Whyte, SS Hassan, Stavros Petrou, Stephen Robson, Steven Thornton, Tina Lavender   +37 more
core   +4 more sources

Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program

International Journal of Neonatal Screening, 2018
The implementation of newborn screening for severe combined immunodeficiency (SCID) in the Netherlands is a multifaceted process in which several parties are involved. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to include
M. Blom, R. Bredius, G. Weijman, E. Dekkers, E. A. Kemper, M. van den Akker-van Marle, C. V. D. van der Ploeg, M. van der Burg, P. Schielen   +8 more
semanticscholar   +1 more source