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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/ genetics

Your search returns 4 documents

• 1.   A new polymorphism for the RI22H mutation in hereditary pancreatitis

  The aim of this study was to examine the frequency of a false negative result by sequencing studies in patients with hereditary pancreatitis and in healthy controls

  

  Abstract:

  BACKGROUND AND AIMS: Hereditary pancreatitis (HP) is a rare form of recurrent acute and chronic pancreatitis. Mutations in the cationic trypsinogen (protease serine 1, PRSS1) gene have been identified as causing HP. The R122H (previously known as R117H) mutation is the commonest and can be detected by a single and rapid polymerase chain reaction/restriction fragment length polymorphism more...

  International Classification:

  Diseases of the digestive system - Disorders of gallbladder, biliary tract and pancreas - hereditary pancreatitis

  Categories:

  hereditary pancreatitis;

  Geography:

  the United Kingdom

  Gut, Vol: 48 Page: 247-50 February 2001
  N. Howes; W. Greenhalf; S. Rutherford; M. O'Donnell; R. Mountford; I. Ellis; D. Whitcomb; C. Imrie; B. Drumm; J. P. Neoptolemos

  [Preview] [Read]

• 2.   A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families

  This case report discusses recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families

  

  International Classification:

  Congenital malformations, deformations and chromosomal abnormalities - Report

  Categories:

  congenital atrichia

  Geography:

  Republic of Ireland

  Br J Dermatol, Vol: 156 Page: 744-7 April 2007
  G. M. O'Regan; J. Zurada; A. Martinez-Mir; A. M. Christiano; A. D. Irvine

  [Preview] [Read]

• 3.   Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene

  This study investigated what proportion of autosomal recessive condition characterized by deafness and goitre were due to mutation of the Pendred syndrome gene

  

  Abstract:

  Although the textbook view of Pendred syndrome is that of an autosomal recessive condition characterized by deafness and goitre, it is increasingly clear that not all such patients present this classical clinical picture. Malformations of the inner ear, specifically enlargement of the vestibular aqueduct, are common in Pendred syndrome and mutations in the PDS (Pendred Syndrome) gene more...

  International Classification:

  Syndrome - Pendred

  Categories:

  Pendred syndrome

  Geography:

  Republic of Ireland and the United Kingdom

  Qjm, Vol: 93 Page: 99-104 February 2000
  W. Reardon; O. Mahoney CF ; R. Trembath; H. Jan; P. D. Phelps

  [Preview] [Read]

• 4.   Is screening for factor V Leiden and prothrombin G20210A mutations in renal transplantation worthwhile? Results of a large single-center U.K. study

  This aim of this study was to screen renal transplant recipients and donors for the commonest prothrombotic genotypes

  

  Abstract:

  This single center study is the largest series of renal transplant recipients and donors screened for the commonest prothrombotic genotypes. A total of 562 transplant recipients and 457 kidney donors were genotyped for the factor V Leiden and prothrombin G20210A mutations. The prevalence of heterozygous factor V Leiden was 3.4% and 2.6% and prothrombin G20210A was 2.0% and 1.1% in more...

  International Classification:

  Organ transplants - renal

  Categories:

  renal transplant recipients; renal transplant donors;prothrombotic genotypes

  Geography:

  Northern Ireland

  Transplantation, Vol: 76 Page: 603-5 August 2003
  A. D. Pherwani; P. C. Winter; P. T. McNamee; C. C. Patterson; C. M. Hill; J. K. Connolly; A. P. Maxwell

  [Preview] [Read]