Results 21 to 30 of about 148,879 (306)

Universal neonatal hearing screening moving from evidence to practice [PDF]

, 2004
Recent technological advances have made feasible universal newborn hearing screening and therefore early detection of permanent childhood hearing impairment.
Kennedy, Colin R., McCann, Donna C.
core   +1 more source

Retinopathy of prematurity in English neonatal units: a national population-based analysis using NHS operational data. [PDF]

, 2020
OBJECTIVES: To report on retinopathy of prematurity (ROP) screening compliance against a national guideline, factors associated with non-compliance and effect on ROP treatment.
Wong, HS, Watkinson, M, UK Neonatal Collaborative, , Modi, N, Statnikov, Y, Gray, D, Santhakumaran, S   +6 more
core   +1 more source

Congenital Cytomegalovirus Screening in Massachusetts Birth Hospitals: A Statewide Survey [PDF]

, 2022
This study sought to assess the current state of screening for congenital cytomegalovirus infection in newborns among birth hospitals and newborn nurseries in the state of Massachusetts.
Colleran, Peter, Cohen, Michael S, Morris, Barbara, Stenerson, Matthew, Mango, Talia, Glovsky, Cheryl K, Luiselli, Tracy Evans, Kuhns-Rankin, Evelyn, Carroll, Kendall, Mullen, Charlotte, Clark, Naomi, Colleran, Vanessa, Gibson, Laura L, Gaffney, Shayne, Kenna, Margaret   +14 more
core   +2 more sources

Neonatal Screening for the Hemochromatosis Defect [PDF]

Blood, 1997
To the Editor : Hereditary hemochromatosis (HC) is an autosomal recessive disorder of iron metabolism that is characterized by inappropriate iron absorption and storage of excess iron in the parenchymal cells of major organs, primarily the liver, pancreas, heart, pituitary, and joints.
Cullen, L. M., Summerville, L., Glassick, T. V., Crawford, D. H. G., Powell, L. W., Jazwinska, E. C.   +5 more
openaire   +4 more sources

Neonatal screening for cystic fibrosis [PDF]

, 1988
Two groups of patients with cystic fibrosis were compared. The screened group, detected with an improved neonatal screening assay for immunoreactive trypsin, developed fewer chest infections requiring treatment and gained more weight than the unscreened ...
B Griffin, Curran, J., Shepherd, R., F Bowling, A Chester, P Francis, J Curran, Francis, P., R Shepherd, J Prado, Chester, A., Griffin, B., Cleghorn, G.J., G Cleghorn, Prado, J., Bowling, F.   +15 more
core   +1 more source

Screening for hyperglycaemia in pregnancy : a rapid update for the National Screening Committee [PDF]

, 2010
Background Screening for gestational diabetes has long been a controversial topic. A previous Health Technology Assessment (HTA) report reviewed literature on screening for gestational diabetes mellitus (GDM) and assessed the case for screening against ...
P Royle, C Clar, Henderson, R., Cummins, E., N Waugh, Henderson, Rob, D Hadden, Royle, P., Clar, C., Lindsay, R. (Robert), Hadden, D. R., Cummins, E. (Ewen), HASH(0x55a67fd05ca0), E Cummins, Pearson, D., Waugh, Norman, Pearson, Donald, Hadden, D., R Henderson, Lindsay, R., D Pearson, Royle, Pamela, Waugh, N., R Lindsay   +23 more
core   +1 more source

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

Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy [PDF]

, 2020
Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years.
Bird, Ian M, Heather, Natasha L, Ian M. Bird, Patrice K. Held, Held, Patrice K, Natasha L. Heather   +5 more
core   +1 more source

Gestational Age Alters Assessment of Neonatal Abstinence Syndrome [PDF]

, 2022
Neonatal abstinence syndrome (NAS) due to maternal opioid use affects both term and preterm infants; however, the relationship between gestational age and clinical symptomatology is still poorly understood.
Sasha Amiri, Jayasree Nair
core   +1 more source

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