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- de Rojas, I., et al.
(författare)
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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| 2. |
- Jones, L., et al.
(författare)
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How do hospital boards govern for quality improvement? : A mixed methods study of 15 organisations in England
- 2017
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Ingår i: BMJ Quality and Safety. - : BMJ Publishing Group Ltd. - 2044-5415 .- 2044-5423. ; 26:12, s. 978-986
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Tidskriftsartikel (refereegranskat)abstract
- Background Health systems worldwide are increasingly holding boards of healthcare organisations accountable for the quality of care that they provide. Previous empirical research has found associations between certain board practices and higher quality patient care; however, little is known about how boards govern for quality improvement (QI).Methods We conducted fieldwork over a 30-month period in 15 healthcare provider organisations in England as part of a wider evaluation of a board-level organisational development intervention. Our data comprised board member interviews (n=65), board meeting observations (60 hours) and documents (30 sets of board meeting papers, 15 board minutes and 15 Quality Accounts). We analysed the data using a framework developed from existing evidence of links between board practices and quality of care. We mapped the variation in how boards enacted governance of QI and constructed a measure of QI governance maturity. We then compared organisations to identify the characteristics of those with mature QI governance.Results We found that boards with higher levels of maturity in relation to governing for QI had the following characteristics: explicitly prioritising QI; balancing short-term (external) priorities with long-term (internal) investment in QI; using data for QI, not just quality assurance; engaging staff and patients in QI; and encouraging a culture of continuous improvement. These characteristics appeared to be particularly enabled and facilitated by board-level clinical leaders.Conclusions This study contributes to a deeper understanding of how boards govern for QI. The identified characteristics of organisations with mature QI governance seemed to be enabled by active clinical leadership. Future research should explore the biographies, identities and work practices of board-level clinical leaders and their role in organisation-wide QI.
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