Results 41 to 50 of about 2,231,771 (385)

Ocular sequelae of congenital toxoplasmosis in Brazil compared with Europe [PDF]

, 2008
Toxoplasmic retinochoroiditis appears to be more severe in Brazil, where it is a leading cause of blindness, than in Europe, but direct comparisons are lacking.
Bahia-Oliveira, LM, Buffolano, W, European Multicentre Study on Congenital Toxoplasmosis (EMSCOT),, Freeman, K, Gilbert, RE, Lago, EG, Petersen, E, Stanford, MR, Tan, HK, Wallon, M   +9 more
core   +3 more sources

Neonatal Hearing Screening

, 2021
Around the world 10 million people have some type or degree of auditory problem, of them, between 200,000 and 400,000 have total deafness. Estimating that a large population presents this problem from birth (61%), with an incidence of 1 to 3 of every 1000 newborns.
Alejandra Itzel Contreras Rivas, Edgar Flores Molina, Gaston Eduardo Estudillo Jimenez, Patricio Guerra Ulloa   +3 more
openaire   +4 more sources

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

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

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

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

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

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

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

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