Irish Child Health Database - Peer Reviewed Papers
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Neonatal Screening
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10
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The aim of this study was to determine the clinical accuracy & precision of Bilicheck measurements in comparison to neonates total serum bilirubin measurements and determine whether Bilicheck is a useful non-invasive screening method to avoid blood tests
Abstract:
BACKGROUND: Transcutaneous bilirubinometry, Bilicheck (kindly provided by Oxygen Care Company, Dublin) is a non-invasive, screening method for determining bilirubin levels in neonates. It has not previously been validated in Irish babies. AIMS: To determine the clinical accuracy and precision of Bilicheck measurements in comparison to total serum bilirubin (TSB) measurements in Irish more...
International Classification:
Other - Serum bilirubin
Categories:
Bilicheck measurements; total serum bilirubin
Geography:
Republic of Ireland
Ir J Med Sci,
Vol: 171 Page: 188-90 2002 Oct-Dec
S. H. Yap; I. Mohammad; C. A. Ryan
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This study reviewed all patients in the neonatal screening programme for congenital hypothyroidism in Northern Ireland between 1983 and 1993
Abstract:
All patients identified in the neonatal screening programme for congenital hypothyroidism in Northern Ireland between 1983 and 1993 were reviewed. 131 infants were recalled because of TSH elevation of whom 85 proved to have true permanent congenital hypothyroidism, while 44 had transient TSH elevation and 2 cases died before the diagnosis could be confirmed. TSH elevation at more...
International Classification:
Endocrine, nutritional and metabolic diseases - disorders of thyroid gland
Categories:
congenital hypothyroidism
Geography:
Northern Ireland
Ulster Med J,
Vol: 71 Page: 38-41 May 2002
A. Foo; H. Leslie; D. J. Carson
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This article discusses the 171 systematic reviews of interventions in neonatology published in the Cochrane Library provide evidence for neonatal care in many areas of the speciality
Abstract:
Randomized controlled trials were introduced into neonatal care in the 1950s when high inspired oxygen concentrations were discovered to be the cause of an epidemic of blindness in preterm babies due to retinopathy of prematurity. Systematic reviews of many randomized controlled trials were published in an important textbook in 1992, 'Effective Care of the Newborn Infant', which was the more...
Geography:
Northern Ireland
Best Pract Res Clin Obstet Gynaecol,
Vol: 19 Page: 155-66 February 2005
H. L. Halliday
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The aim of this study was to examine the prevalence of the genetic form of hereditary hemochromatosis in the Irish population
Abstract:
In populations of northern European ancestry, hereditary hemochromatosis (HH) is tightly linked to mutations within the hemochromatosis gene (HFE gene). Over 93% of Irish HH patients are homozygous for the HFE gene C282Y mutation, providing a reliable diagnostic marker of the disease in this population. However, the prevalence of the C282Y mutation and that of the second HFE gene more...
International Classification:
Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified - Abnormal findings on examination of blood, without diagnosis - hereditary hemochromatosis
Categories:
hereditary hemochromatosis
Geography:
Republic of Ireland
Genet Test,
Vol: 5 Page: 127-30 2001 Summer
V. Byrnes; E. Ryan; S. Barrett; P. Kenny; P. Mayne; J. Crowe
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The aim of this study was to identify the reasons for the late presentation of developmental dysplasia of the hip in the presence of a screening programme
Abstract:
BACKGROUND: A neonatal screening programme for developmental dysplasia of the hip (DDH) is ongoing in Cork. Despite early screening, infants continue to present at later ages with DDH. The impact of late diagnosis is significant. Established DDH causes significant morbidity and may have major medicolegal implications. AIM: To identify the reasons for the late presentation of DDH in the more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Congenital malformations and deformations of the musculoskeletal system - dysplasia of the hip
Categories:
developmental dysplasia of the hip
Geography:
Republic of Ireland
Ir J Med Sci,
Vol: 171 Page: 139-40 2002 Jul-Sep
R. Gul; J. C. Coffey; G. Khayyat; A. J. McGuinness
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This article discusses the literature published during the past year that has focussed on sonographic screening for fetal abnormalities
Abstract:
PURPOSE OF REVIEW: This review serves to explore literature published during the past year that has focussed on sonographic screening for fetal abnormalities. RECENT FINDINGS: The evolving nature of screening for fetal aneuploidy has continued to feature strongly in recent literature. There is growing interest in early detailed ultrasound of fetal anatomy at the time of nuchal more...
Geography:
Republic of Ireland
Curr Opin Obstet Gynecol,
Vol: 20 Page: 139-45 April 2008
K. Flood; F. D. Malone
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The aim of this study was to examine the prevalence of toxoplasma susceptibility in pregnant women
Abstract:
Congenital toxoplasmosis (CT) arises as a result of new acquisition of Toxoplasma infection by a susceptible woman during pregnancy. Early detection of CT through neonatal screening programmes could optimize management and improve infant outcome. This study sought to estimate the prevalence of Toxoplasma susceptibility in pregnant women. As detection of Toxoplasma antibodies in neonatal more...
International Classification:
Other - toxoplasma
Categories:
toxoplasma susceptibility
Geography:
Republic of Ireland
Ir Med J,
Vol: 101 Page: 220-1 2008 Jul-Aug
W. Ferguson; P. D. Mayne; B. Lennon; K. Butler; M. Cafferkey
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The aim of the study was to examine the intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency
Abstract:
The pathological sequelae of untreated homocystinuria due to cystathionine beta-synthase deficiency include ectopia lentis, osteoporosis, thromboembolic events and mental retardation. They occur at a significantly higher rate with poorer mental capabilities (mean IQ = 57) in the untreated pyridoxine-nonresponsive individuals. The mental capabilities of 23 pyridoxine-nonresponsive more...
International Classification:
Mental and behavioural disorders - Mental retardation - intellectual abilities
Categories:
intellectual abilities
Geography:
Republic of Ireland
J Inherit Metab Dis,
Vol: 24 Page: 437-47 August 2001
S. Yap; H. Rushe; P. M. Howard; E. R. Naughten
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This study aimed to examined the temperature sensitive of Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based (mass spectometry ) newborn screening
Abstract:
Medium-chain acyl-CoA dehydrogenase (MCAD) is a homotetrameric flavoprotein which catalyses the initial step of the beta-oxidation of medium-chain fatty acids. Mutations in MCAD may cause disease in humans. A Y42H mutation is frequently found in babies identified by newborn screening with MS/MS, yet there are no reports of patients presenting clinically with this mutation. As a basis more...
International Classification:
Effectiveness of measurement tool - temperature sensitive of Y42H mutation in medium-chain acyl-CoA dehydrogenase
Geography:
Republic of Ireland
Eur J Biochem,
Vol: 271 Page: 4053-63 October 2004
L. O'Reilly; P. Bross; T. J. Corydon; S. E. Olpin; J. Hansen; J. M. Kenney; S. E. McCandless; D. M. Frazier; V. Winter; N. Gregersen; P. C. Engel; B. S. Andresen
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This article discusses universal neonatal screening
Geography:
Republic of Ireland
Ir Med J,
Vol: 101 Page: 197-8 2008 Jul-Aug
R. Wormald; M. Colreavy
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