Results 21 to 30 of about 280,708 (291)

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

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

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

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

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

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P, Alberti G, Caminiti F, Gargano R, Gazia F, Longo P, Loteta S   +6 more
core   +1 more source

Neonatal screening [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Educational Items on Neonatal screening.
Dallaire, L, Huret, JL
openaire   +2 more sources

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

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   +5 more sources

Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

Clinical Case Reports, 2018
Key Clinical Message Twelve days after birth, the child was admitted to hospital because of “poor response, lethargy, and poor appetite for 6 days” and developed into coma immediately. The ventilator is required.
Wenjie Li, Xianze Meng, Weiqing Wang, Jinfeng Lv, Yingmei Sun, Yanan Lv, Caijuan Wang, Hongqin Wang, Mei Wang, Dongpo Song   +9 more
doaj   +1 more source