| 1. |
- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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| 7. |
- Roswall, N., et al.
(författare)
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Long-Term Exposure to Transportation Noise and Risk of Incident Stroke: A Pooled Study of Nine Scandinavian Cohorts
- 2021
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Ingår i: Environmental Health Perspectives. - : Environmental Health Perspectives. - 0091-6765 .- 1552-9924. ; 129:10
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Transportation noise is increasingly acknowledged as a cardiovascular risk factor, but the evidence base for an association with stroke is sparse. OBJECTIVE: We aimed to investigate the association between transportation noise and stroke incidence in a large Scandinavian population. METHODS: We harmonized and pooled data from nine Scandinavian cohorts (seven Swedish, two Danish), totaling 135,951 participants. We identified residential address history and estimated road, railway, and aircraft noise for all addresses. Information on stroke incidence was acquired through linkage to national patient and mortality registries. We analyzed data using Cox proportional hazards models, including socioeconomic and lifestyle confounders, and air pollution. RESULTS: During follow-up (median = 19.5 y), 11,056 stroke cases were identified. Road traffic noise (Lden) was associated with risk of stroke, with a hazard ratio (HR) of 1.06 [95% confidence interval (CI): 1.03, 1.08] per 10-dB higher 5-y mean time-weighted exposure in analyses adjusted for individual- and area-level socioeconomic covariates. The association was approximately linear and persisted after adjustment for air pollution [particulate matter (PM) with an aerodynamic diameter of <= 2.5 mu m (PM2.5) and NO2]. Stroke was associated with moderate levels of 5-y aircraft noise exposure (40-50 vs. <= 40 dB) (HR = 1.12; 95% CI: 0.99, 1.27), but not with higher exposure (>= 50 dB, HR = 0.94; 95% CI: 0.79, 1.11). Railway noise was not associated with stroke. DISCUSSION: In this pooled study, road traffic noise was associated with a higher risk of stroke. This finding supports road traffic noise as an important cardiovascular risk factor that should be included when estimating the burden of disease due to traffic noise.
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| 8. |
- Betsou, F, et al.
(författare)
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Standard PREanalytical Code Version 3.0
- 2018
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Ingår i: Biopreservation and biobanking. - : Mary Ann Liebert Inc. - 1947-5543 .- 1947-5535. ; 16:1, s. 9-12
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Tidskriftsartikel (refereegranskat)
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| 9. |
- Jonsson, J, et al.
(författare)
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Measuring precarious employment in Sweden: translation, adaptation and psychometric properties of the Employment Precariousness Scale (EPRES)
- 2019
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 9:9, s. e029577-
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Tidskriftsartikel (refereegranskat)abstract
- Precarious employment (PE) is a determinant of poor health and health inequality. However, the evidence of health consequences and mechanisms underlying the associations, are still limited due to a lack of a comprehensive multidimensional definition and measurement instrument. The Employment Precariousness Scale (EPRES) is a Spanish, multidimensional scale, developed to measure degree of PE. The aim of this study was to translate the EPRES-2010 into Swedish, adapt it to the Swedish context and to assess the psychometric properties of the Swedish EPRES.MethodEPRES was translated, adapted and implemented for data collection within the research project PRecarious EMployment in Stockholm (PREMIS). During 2016–2017, questionnaire data were collected from 483 non-standard employees in Stockholm, Sweden, sampled with web-based respondent-driven sampling. Analyses included item descriptive statistics, scale descriptive statistics and exploratory factor analysis.ResultsThe final EPRES-Se (Swedish version of the EPRES),consisted of six dimensions and 23 items. There was a high response rate to all items and response options. Global Cronbach’s alpha was 0.83. Subscales ‘vulnerability’, ‘rights’ and ‘exercise rights’ had reliability coefficients between α=0.78–0.89 and item-subscale correlations between r=0.48–0.78. ‘Temporariness’ had poor reliability (α=−0.08) and inter-item correlation (r=−0.04), while ‘disempowerment’ showed acceptable psychometric properties (α=0.5; r=0.34). Exploratory factor analysis confirmed the original EPRES factor structure.Conclusions‘Vulnerability’, ‘wages’, ‘rights’, ‘exercise rights’ and ‘disempowerment’ worked in the Swedish context; however, ‘temporariness’ would need revising before implementing the EPRES-Se in further research. Continued work and validation of EPRES-Se is encouraged. In order to enable international comparisons and multinational studies, similar studies in other European countries are also called for.
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- Robinson, N. A., et al.
(författare)
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Applying genetic technologies to combat infectious diseases in aquaculture
- 2022
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Ingår i: Reviews in Aquaculture. - : Wiley. - 1753-5123 .- 1753-5131. ; 15:2, s. 491-535
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Tidskriftsartikel (refereegranskat)abstract
- Disease and parasitism cause major welfare, environmental and economic concerns for global aquaculture. In this review, we examine the status and potential of technologies that exploit genetic variation in host resistance to tackle this problem. We argue that there is an urgent need to improve understanding of the genetic mechanisms involved, leading to the development of tools that can be applied to boost host resistance and reduce the disease burden. We draw on two pressing global disease problems as case studies—sea lice infestations in salmonids and white spot syndrome in shrimp. We review how the latest genetic technologies can be capitalised upon to determine the mechanisms underlying inter- and intra-species variation in pathogen/parasite resistance, and how the derived knowledge could be applied to boost disease resistance using selective breeding, gene editing and/or with targeted feed treatments and vaccines. Gene editing brings novel opportunities, but also implementation and dissemination challenges, and necessitates new protocols to integrate the technology into aquaculture breeding programmes. There is also an ongoing need to minimise risks of disease agents evolving to overcome genetic improvements to host resistance, and insights from epidemiological and evolutionary models of pathogen infestation in wild and cultured host populations are explored. Ethical issues around the different approaches for achieving genetic resistance are discussed. Application of genetic technologies and approaches has potential to improve fundamental knowledge of mechanisms affecting genetic resistance and provide effective pathways for implementation that could lead to more resistant aquaculture stocks, transforming global aquaculture. © 2022 The Authors. Reviews in Aquaculture published by John Wiley & Sons Australia, Ltd.
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- Dzhambov, A. M., et al.
(författare)
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Protective effect of restorative possibilities on cognitive function and mental health in children and adolescents: A scoping review including the role of physical activity
- 2023
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Ingår i: Environmental Research. - 0013-9351 .- 1096-0953. ; 233
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Forskningsöversikt (refereegranskat)abstract
- Background The exposome approach can be a powerful tool for understanding the intertwining of social, physical, and internal influences that shape mental health and cognitive development throughout childhood. To distil conceptual models for subsequent analyses, the EU-funded project Early Environmental quality and Life-course mental health effects (Equal-Life) has conducted literature reviews on potential mediators linking the expo some to these outcomes. We report on a scoping review and a conceptual model of the role of restorative possibilities and physical activity. Methods Peer-reviewed studies published since the year 2000 in English, on the association between the exposome and mental health/cognition in children/adolescents, and quantitatively investigating restoration/restorative quality as a mediating variable were considered. Database searches were last updated in December 2022. We used an unstructured expert-driven approach to fill in gaps in the reviewed literature.Results Five records of three distinct studies were identified, indicating a scarcity of empirical evidence in this newly developing research area. Not only were these studies few in numbers, but also cross-sectional, lending only tentative support to the idea that perceived restorative quality of adolescent's living environment might mediate the association between greenspace and mental health. Physical activity emerged as a mediator leading to better psychological outcomes in restorative environments. We provide a critical discussion of potential caveats when investigating the restoration mechanism in children and propose a hierarchical model including restoration, physical activity, and relational dynamics between children and their environment, including social context, as well as restorative environments other than nature.Conclusions It is justified to further explore the role of restoration and physical activity as mediators in the association between early-life exposome and mental health/cognitive development. It is important to consider the child perspective and specific methodological caveats. Given the evolving conceptual definitions/operationalizations, Equal-Life will attempt to fill in a critical gap in the literature.
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| 17. |
- Lundholm, N., et al.
(författare)
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Induction of domoic acid production in diatoms-Types of grazers and diatoms are important
- 2018
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Ingår i: Harmful Algae. - : Elsevier BV. - 1568-9883. ; 79, s. 64-73
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Tidskriftsartikel (refereegranskat)abstract
- Grazers can induce toxin (domoic acid, DA) production in diatoms. The toxic response has been observed in two species of Pseudo-nitzschia and was induced by Calanus copepods. In this study, interactions between diatoms and copepods were further explored using different species of diatoms and copepods. All herbivorous copepods induced toxin production, whereas exposure to carnivorous copepods did not. In line with this, increasing the number of herbivorous copepods resulted in even higher toxin production. The induced response is thus only elicited by copepods that pose a real threat to the responding cells, which supports that the induced toxin production in diatoms evolved as an inducible defense. The cellular toxin content in Pseudo-nitzschia was positively correlated to the concentration of a group of specific polar lipids called copepodamides that are excreted by the copepods. This suggests that copepodamides are the chemical cues responsible for triggering the toxin production. Carnivorous copepods were found to produce less or no copepodamides. Among the diatoms exposed to grazing herbivorous copepods, only two of six species of Pseudo-nitzschia and none of the Nitzschia or Fragilariopsis strains responded by producing DA, indicating that not all Pseudo-nitzschia species/strains are able to produce DA, and that different diatom species might have different strategies for coping with grazing pressure. Growth rate was negatively correlated to cellular domoic acid content indicating an allocation cost associated with toxin production. Long-term grazing experiments showed higher mortality rates of grazers fed toxic diatoms, supporting the hypothesis that DA production is an induced defense mechanism.
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| 19. |
- Marnetoft, SU, et al.
(författare)
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The unemployed sick-listed and their vocational rehabilitation
- 1997
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Ingår i: International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation. - : Ovid Technologies (Wolters Kluwer Health). - 0342-5282. ; 20:3, s. 245-253
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Tidskriftsartikel (refereegranskat)
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| 20. |
- Marnetoft, Sven-Uno, et al.
(författare)
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Factors associated with successful vocational rehabilitation in a Swedish rural area
- 2001
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Ingår i: Journal of Rehabilitation Medicine. - 1650-1977 .- 1651-2081. ; 33, s. 71-78
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Tidskriftsartikel (refereegranskat)abstract
- The objective of this study was to identify factors associated with a positive outcome of vocational rehabilitation, and to identify groups that have been successfully rehabilitated in a Swedish rural area. In this study vocational rehabilitation is defined as medical multidisciplinary, psychological, social and occupational activities aiming to re-establish, among sick or injured people with previous work history, their working capacity and prerequisites for returning to the labour market. The study was based on 732 people on registered long-term sick-leave who, in a rural area in northern Sweden during 1992-94, became objects for vocational rehabilitation. Bivariate and stepwise logistic regression analysis was used to identify factors associated with the outcome. By successful vocational rehabilitation is meant reporting well (no economical benefit) at all three Lime-points 6, 12 and 24 months after termination of rehabilitation, or lowered benefit levels. The results indicate that younger, male, employed persons, with an early start on rehabilitation, in a programme entailing education, and partly sick-listed before the start of this programme, had the greatest chance of successful rehabilitation. In contrast, older, female, unemployed people, with a delayed start on rehabilitation, without education, and fully sick-listed before the start, greatly risked being unsuccessful with vocational rehabilitation. The results indicate how to improve the rehabilitation process: several process-related factors shown to be connected with successful vocational rehabilitation include time before the start of rehabilitation, partial instead of full sickness benefit, and education programmes.
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| 24. |
- Nikkila, R, et al.
(författare)
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Occupational variation in incidence of oropharyngeal cancer in the Nordic countries
- 2024
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Ingår i: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery. - 1434-4726. ; 280281:121, s. 343-350
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Tidskriftsartikel (refereegranskat)
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