Results 41 to 50 of about 2,257,975 (340)

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

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

A five year outbreak of methicillin-susceptible Staphylococcus aureus phage type 53,85 in a regional neonatal unit [PDF]

, 2000
We identified a 5-year outbreak of a methicillin-susceptible Staphylococcus aureus (MSSA) strain, affecting 202 babies on a neonatal unit, by routine weekly phage typing all S. aureus isolates.
Denton, M., Fitzgerald, P., Freeman, J., Gill, A.B., Haspinall, L., Hawkey, P., Hoy, C., Parnell, P., Porter, C., Wilcox, M.H.   +9 more
core   +2 more sources

Clinical and genetic analysis of five Chinese patients with urea cycle disorders

Molecular Genetics & Genomic Medicine, 2020
Background The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL).
Zhenzhu Zheng, Yiming Lin, Weihua Lin, Lin Zhu, Mengyi Jiang, Wenjun Wang, Qingliu Fu   +6 more
doaj   +1 more source

European Union Should Actively Stimulate and Harmonise Neonatal Screening Initiatives

International Journal of Neonatal Screening, 2018
Neonatal screening programmes have been introduced in almost all European countries. In practice there are large differences, especially in the panel of conditions that are screened for, often without clear reasons.
J. Loeber
semanticscholar   +1 more source

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

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

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

Early life growth patterns persist for 12 years and impact pulmonary outcomes in cystic fibrosis [PDF]

, 2018
BACKGROUND: In children with cystic fibrosis (CF), recovery from growth faltering within 2 years of diagnosis (Responders) is associated with better growth and less lung disease at age 6 years.
Farrell, Philip M., Lai, HuiChuan J., Sanders, Don B., Zhang, Zhumin   +3 more
core   +1 more source

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