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Sökning: WFRF:(Hart Nigel) > (2014) > Lunds universitet

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1.
  • Rose, Peter W., et al. (författare)
  • Development of a survey instrument to investigate the primary care factors related to differences in cancer diagnosis between international jurisdictions
  • 2014
  • Ingår i: BMC Family Practice. - : BioMed Central. - 1471-2296. ; 15, s. 1-8
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Survival rates following a diagnosis of cancer vary between countries. The International Cancer Benchmarking Partnership (ICBP), a collaboration between six countries with primary care led health services, was set up in 2009 to investigate the causes of these differences. Module 3 of this collaboration hypothesised that an association exists between the readiness of primary care physicians (PCP) to investigate for cancer - the 'threshold' risk level at which they investigate or refer to a specialist for consideration of possible cancer - and survival for that cancer (lung, colorectal and ovarian). We describe the development of an international survey instrument to test this hypothesis. Methods: The work was led by an academic steering group in England. They agreed that an online survey was the most pragmatic way of identifying differences between the jurisdictions. Research questions were identified through clinical experience and expert knowledge of the relevant literature. A survey comprising a set of direct questions and five clinical scenarios was developed to investigate the hypothesis. The survey content was discussed and refined concurrently and repeatedly with international partners. The survey was validated using an iterative process in England. Following validation the survey was adapted to be relevant to the health systems operating in other jurisdictions and translated into Danish, Norwegian and Swedish, and into Canadian and Australian English. Results: This work has produced a survey with face, content and cross cultural validity that will be circulated in all six countries. It could also form a benchmark for similar surveys in countries with similar health care systems. Conclusions: The vignettes could also be used as educational resources. This study is likely to impact on healthcare policy and practice in participating countries.
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2.
  • Styrkarsdottir, Unnur, et al. (författare)
  • Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
  • 2014
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 46:5, s. 498-502
  • Tidskriftsartikel (refereegranskat)abstract
    • Osteoarthritis is the most common form of arthritis and is a major cause of pain and disability in the elderly. To search for sequence variants that confer risk of osteoarthritis of the hand, we carried out a genome-wide association study (GWAS) in subjects with severe hand osteoarthritis, using variants identified through the whole-genome sequencing of 2,230 Icelanders. We found two significantly associated loci in the Icelandic discovery set: at 15q22 (frequency of 50.7%, odds ratio (OR) = 1.51, P = 3.99 × 10(-10)) in the ALDH1A2 gene and at 1p31 (frequency of 0.02%, OR = 50.6, P = 9.8 × 10(-10)). Among the carriers of the variant at 1p31 is a family with several members in whom the risk allele segregates with osteoarthritis. The variants within the ALDH1A2 gene were confirmed in replication sets from The Netherlands and the UK, yielding an overall association of OR = 1.46 and P = 1.1 × 10(-11) (rs3204689).
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