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- Bliksvær, Trond, et al.
(författare)
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Health care services for older people in COVID-19 pandemic times – A Nordic comparison
- 2024
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Ingår i: Scandinavian Journal of Primary Health Care. - 0281-3432 .- 1502-7724. ; 42:1, s. 144-155
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Tidskriftsartikel (refereegranskat)abstract
- Objective: to explore the Nordic municipal health and care services’ ability to promote principal goals within care for older people during the cOViD-19 pandemic.Design and setting: two surveys were conducted among managers of municipal health care services for older people in Denmark, Finland, Norway and sweden; the first around 6 months into the pandemic (survey 1), and the second around 12 months later (survey 2). Data were analysed through descriptive statistics, and multiple regression (Ols).Subjects: 1470 (survey 1, 2020) and 745 (survey 2, 2021) managers. 32% in home care, 51% in nursing homes, 17% combined.Results: in all countries the pandemic seems to have had more negative impact on eldercare services’ ability to promote an active and social life, than on the ability to promote or enhance older people’s mental and physical health. the regression analysis indicates that different factors influence the ability to promote these goals. Managers within nursing homes reported reduced ability to promote mental and physical health and an active social life to a significantly lower degree than managers of home care. the effect of three prevention strategies (lock down, testing, and/or organisational change), were explored. Organisational change (reorganize staff and practice, restrict use of substitutes) tended to impact the units’ ability to promote a social life in a positive direction, while lock down (areas, buffets etc) tended to impact both the ability to promote mental/physical health and a social life in a negative direction.Conclusion: Measures that can improve opportunities for an active and social life during a pandemic should have high priority, particularily within home care.KEY POINTS• it is important to learn from how the cOViD-19 outbreak in 2020 affected the municipal health and care services’ ability to achieve principal goals within care for older people.• the pandemic had a more negative impact on the services’ ability to promote an active and social life, than on their ability to promote or enhance mental and physical health.• Measures that can improve opportunities for an active and social life during a pandemic situation should have high priority, particularily within home-based care.
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| 2. |
- Thomassen, Mads, et al.
(författare)
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
- 2022
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 43:12, s. 1921-1944
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Tidskriftsartikel (refereegranskat)abstract
- Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3. Bioinformatically predicted spliceogenic variants underwent mRNA splicing analysis using minigenes and/or patient samples. ∆E3 was measured using quantitative analysis. A mouse embryonic stem cell (mESC) based assay was used to determine the impact of 18 variants on mRNA splicing and protein function. For each variant, population frequency, bioinformatic predictions, clinical data, and existing mRNA splicing and functional results were collated. Variant class was assigned using a gene-specific adaptation of ACMG/AMP guidelines, following a recently proposed points-based system. mRNA and mESC analysis combined identified six variants with transcript and/or functional profiles interpreted as loss of function. Cryptic splice site use for acceptor site variants generated a transcript encoding a shorter protein that retains activity. Overall, 69/85 (81%) variants were classified using the points-based approach. Our analysis shows the value of applying gene-specific ACMG/AMP guidelines using a points-based approach and highlights the consideration of cryptic splice site usage to appropriately assign PVS1 code strength.
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| 3. |
- Wang, Anqi, et al.
(författare)
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Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
- 2023
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Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 55:12, s. 2065-2074
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Tidskriftsartikel (refereegranskat)abstract
- The transferability and clinical value of genetic risk scores (GRSs) across populations remain limited due to an imbalance in genetic studies across ancestrally diverse populations. Here we conducted a multi-ancestry genome-wide association study of 156,319 prostate cancer cases and 788,443 controls of European, African, Asian and Hispanic men, reflecting a 57% increase in the number of non-European cases over previous prostate cancer genome-wide association studies. We identified 187 novel risk variants for prostate cancer, increasing the total number of risk variants to 451. An externally replicated multi-ancestry GRS was associated with risk that ranged from 1.8 (per standard deviation) in African ancestry men to 2.2 in European ancestry men. The GRS was associated with a greater risk of aggressive versus non-aggressive disease in men of African ancestry (P = 0.03). Our study presents novel prostate cancer susceptibility loci and a GRS with effective risk stratification across ancestry groups.
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