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Sökning: WFRF:(Walter H) > Marie Cederschiöld högskola

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1.
  • Li, Jian-Liang, et al. (författare)
  • A genome scan for modifiers of age at onset in Huntington disease : The HD MAPS study.
  • 2003
  • Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 73:3, s. 682-7
  • Tidskriftsartikel (refereegranskat)abstract
    • Huntington disease (HD) is caused by the expansion of a CAG repeat within the coding region of a novel gene on 4p16.3. Although the variation in age at onset is partly explained by the size of the expanded repeat, the unexplained variation in age at onset is strongly heritable (h2=0.56), which suggests that other genes modify the age at onset of HD. To identify these modifier loci, we performed a 10-cM density genomewide scan in 629 affected sibling pairs (295 pedigrees and 695 individuals), using ages at onset adjusted for the expanded and normal CAG repeat sizes. Because all those studied were HD affected, estimates of allele sharing identical by descent at and around the HD locus were adjusted by a positionally weighted method to correct for the increased allele sharing at 4p. Suggestive evidence for linkage was found at 4p16 (LOD=1.93), 6p21-23 (LOD=2.29), and 6q24-26 (LOD=2.28), which may be useful for investigation of genes that modify age at onset of HD.
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2.
  • Squires, Allison, et al. (författare)
  • A systematic survey instrument translation process for multi-country, comparative health workforce studies.
  • 2013
  • Ingår i: International Journal of Nursing Studies. - : Elsevier BV. - 0020-7489 .- 1873-491X. ; 50:2, s. 264-273
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: As health services research (HSR) expands across the globe, researchers will adopt health services and health worker evaluation instruments developed in one country for use in another. This paper explores the cross-cultural methodological challenges involved in translating HSR in the language and context of different health systems. OBJECTIVES: To describe the pre-data collection systematic translation process used in a twelve country, eleven language nursing workforce survey. DESIGN AND SETTINGS: We illustrate the potential advantages of Content Validity Indexing (CVI) techniques to validate a nursing workforce survey developed for RN4CAST, a twelve country (Belgium, England, Finland, Germany, Greece, Ireland, Netherlands, Norway, Poland, Spain, Sweden, and Switzerland), eleven language (with modifications for regional dialects, including Dutch, English, Finnish, French, German, Greek, Italian, Norwegian, Polish, Spanish, and Swedish), comparative nursing workforce study in Europe. PARTICIPANTS: Expert review panels comprised of practicing nurses from twelve European countries who evaluated cross-cultural relevance, including translation, of a nursing workforce survey instrument developed by experts in the field. METHODS: The method described in this paper used Content Validity Indexing (CVI) techniques with chance correction and provides researchers with a systematic approach for standardizing language translation processes while simultaneously evaluating the cross-cultural applicability of a survey instrument in the new context. RESULTS: The cross-cultural evaluation process produced CVI scores for the instrument ranging from .61 to .95. The process successfully identified potentially problematic survey items and errors with translation. CONCLUSIONS: The translation approach described here may help researchers reduce threats to data validity and improve instrument reliability in multinational health services research studies involving comparisons across health systems and language translation.
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