Accessibility
Legal Notices
Text Version

Irish Child Health Database - Peer Reviewed Papers

Database Search

How to use this database.

• Method 1- uses a free natural language approach.

  After choosing the object of the search – by ticking title, abstract, aims and objective, or author - enter a term, word or name in the ‘Search’ box to return references answering your research question.

• Method 2 - utilises key words.

  Those key words assigned from thesauruses of controlled vocabulary by the trained coders of international bibliographic databases.
  The controlled vocabularies key word are listed alphanumerically under 'Bibliographic database keywords' .
  Use the drop down menu to identity which 'key words' you are interested in to return references to answer your research question.

• Method 3 - is based on the indexing system

  developed by the researchers who compiled this database.
  It adopts a thematic approach to mapping Irish child health research. The themed areas represent outcomes mapped to the International Classification of Disease version 10 (ICD-10) or one of 23 other health-related themed outcomes. Themes are defined in Tables 5 to 7 (of the study report).
  Use the alphabetic drop down menu under ‘ICD-10 or themed health-related outcomes’ to identity which themed areas you are interested in to select references to answer your research question.

• Method 4 – allows papers to be searched by Study type.

  Indexing by study type offers a valuable insight into understanding the population impact of the topic of interest. More than 20 study types were identified across the 2,152 study papers. These are defined in Table 3 (of the study report). Within 'Study type' papers are further stratification by geographical region (Table 49), topic area of interest and study aims and objectives.
  Click on 'Study type' to select the type of study of interest, progressively select sub-categories by topic area or other sub-classification of interest to answer your research question.

The complete background, methods and findings from this mapping exercise are detailed in the study report.

Mutation, Missense

Your search returns 4 documents

• 1.   Congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase

  This case report discusses a congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase

  

  Abstract:

  A baby centrally cyanosed from birth was investigated for a congenital cardiac defect. Echocardiography and angiography revealed patent foramen ovale without any other cardiac abnormality. Congenital methaemoglobinaemia was considered as the methaemoglobin level was 27%, suggesting either Hb M or a deficiency of the NADH-cytochrome b5 reductase (cytb5r) enzyme. Measurement of the cytb5r more...

  International Classification:

  Congenital malformations, deformations and chromosomal abnormalities - Report

  Categories:

  congenital methaemoglobinaemia Type I

  Geography:

  Northern Ireland

  Hematol J, Vol: 5 Page: 367-70 2004
  M. J. Percy; H. Oren; G. Savage; G. Irken

  [Preview] [Read]

• 2.   Genetic hemochromatosis, a Celtic disease: is it now time for population screening?

  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

  [Preview] [Read]

• 3.   Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system

  The aim of this study was to examine DNA variants in the RET gene in total intestinal aganglionosis patients using the WAVE DNA Fragment Analysis System

  

  Abstract:

  BACKGROUND/PURPOSE: Total intestinal aganglionosis (TIA) extending from the duodenum to the rectum is the most rare form of Hirschprung's disease (HSCR) and usually is fatal. RET is the major gene associated with HSCR, and germline mutations of this gene account for up 50% of familial and up to 15 to 20% of sporadic cases in HSCR. The aim of this study was to investigate DNA variants in more...

  International Classification:

  Other - intestinal aganglionosis

  Categories:

  total intestinal aganglionosis

  Geography:

  Republic of Ireland

  J Pediatr Surg, Vol: 38 Page: 497-501 March 2003
  V. Solari; S. Ennis; A. Yoneda; L. Wong; A. Messineo; M. E. Hollwarth; A. Green; P. Puri

  [Preview] [Read]

• 4.   Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome

  This case report discusses an 8-year-old girl, diagnosed with Familial cold auto-inflammatory syndrome

  

  Abstract:

  Familial cold auto-inflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurologic, cutaneous, articular syndrome are related disorders associated with mutations in the CIAS1 gene. They appear to represent a continuum of one disease characterized by IL-1-mediated inflammation. Until recently, these conditions have been difficult to treat; however, with the advent of more...

  International Classification:

  Syndrome

  Categories:

  cold auto-inflammatory syndrome

  Geography:

  Republic of Ireland

  Pediatr Dermatol, Vol: 24 Page: 85-9 2007 Jan-Feb
  S. M. O'Connell; G. M. O'Regan; T. Bolger; H. M. Hoffman; A. Cant; A. D. Irvine; R. M. Watson

  [Preview] [Read]