| 1. |
- Kanoni, Stavroula, et al.
(författare)
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
- 2022
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Ingår i: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N=1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.
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| 2. |
- Brownstein, Catherine A., et al.
(författare)
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
- 2014
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Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
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Tidskriftsartikel (refereegranskat)abstract
- Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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| 3. |
- Visvanathan, Kala, et al.
(författare)
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Circulating vitamin D and breast cancer risk : an international pooling project of 17 cohorts
- 2023
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Ingår i: European Journal of Epidemiology. - : Springer Science+Business Media B.V.. - 0393-2990 .- 1573-7284. ; 38, s. 11-29
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Tidskriftsartikel (refereegranskat)abstract
- Laboratory and animal research support a protective role for vitamin D in breast carcinogenesis, but epidemiologic studies have been inconclusive. To examine comprehensively the relationship of circulating 25-hydroxyvitamin D [25(OH)D] to subsequent breast cancer incidence, we harmonized and pooled participant-level data from 10 U.S. and 7 European prospective cohorts. Included were 10,484 invasive breast cancer cases and 12,953 matched controls. Median age (interdecile range) was 57 (42–68) years at blood collection and 63 (49–75) years at breast cancer diagnosis. Prediagnostic circulating 25(OH)D was either newly measured using a widely accepted immunoassay and laboratory or, if previously measured by the cohort, calibrated to this assay to permit using a common metric. Study-specific relative risks (RRs) for season-standardized 25(OH)D concentrations were estimated by conditional logistic regression and combined by random-effects models. Circulating 25(OH)D increased from a median of 22.6 nmol/L in consortium-wide decile 1 to 93.2 nmol/L in decile 10. Breast cancer risk in each decile was not statistically significantly different from risk in decile 5 in models adjusted for breast cancer risk factors, and no trend was apparent (P-trend = 0.64). Compared to women with sufficient 25(OH)D based on Institute of Medicine guidelines (50– < 62.5 nmol/L), RRs were not statistically significantly different at either low concentrations (< 20 nmol/L, 3% of controls) or high concentrations (100– < 125 nmol/L, 3% of controls; ≥ 125 nmol/L, 0.7% of controls). RR per 25 nmol/L increase in 25(OH)D was 0.99 [95% confidence intervaI (CI) 0.95–1.03]. Associations remained null across subgroups, including those defined by body mass index, physical activity, latitude, and season of blood collection. Although none of the associations by tumor characteristics reached statistical significance, suggestive inverse associations were seen for distant and triple negative tumors. Circulating 25(OH)D, comparably measured in 17 international cohorts and season-standardized, was not related to subsequent incidence of invasive breast cancer over a broad range in vitamin D status.
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| 4. |
- Ek, Åsa, et al.
(författare)
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Safety Leadership in Two Types of Safety-Critical Systems
- 2021
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Ingår i: Proceedings of the 21st Congress of the International Ergonomics Association, IEA 2021 - Systems and Macroergonomics. - Cham : Springer International Publishing. - 2367-3389 .- 2367-3370. - 9783030746025 - 9783030746018 ; 219 LNNS, s. 655-663
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Konferensbidrag (refereegranskat)abstract
- In safety-critical systems, such as aviation systems, nuclear power plants and hospitals, system failures can cause loss of life, environmental and property damage. Safety-critical systems consists of loose or tight interactions, they are more or less complex, and these characteristics affect the system’s ability to prevent and overcome emerging system failures. The demand for good safety cultures, and safe and efficient work within these types of systems highlight the crucial role of safety leadership. This paper reports on findings from a small pilot study with the aim of exploring whether safety leadership in practice differs according to the built in properties of complexity and coupling in safety-critical organizations. Based on a literature review on safety leadership, interviews were conducted with one leader at a nuclear power plant, and one at a university hospital. The two systems can be viewed to have separate characters and differences in the way work is performed. Contrasts existed between safety leadership within the nuclear power plant and the hospital setting concerning flexibility in the organizations. The hospital setting were more suitable for adaptability and flexibility in relation to dynamical decision hierarchies. The nuclear power plant setting was viewed as more rigid with tightly coupled interactions, and the leadership and safety culture might be extra crucial within this system. Nevertheless, both interviewees promoted a transformational and inspirational leadership style. However, transactional leadership was preferable in critical situations.
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| 5. |
- Hemphälä, Hillevi, et al.
(författare)
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Visual Symptoms and Risk Assessment Using Visual Ergonomics Risk Assessment Method (VERAM)
- 2021
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Ingår i: Proceedings of the 21st Congress of the International Ergonomics Association (IEA 2021) - Volume II : Inclusive Design - Inclusive Design. - Cham : Springer International Publishing. - 2367-3389 .- 2367-3370. - 9783030746049 ; 220, s. 729-735, s. 729-735
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Konferensbidrag (refereegranskat)abstract
- A visual environment impaired by e.g. glare can cause eyestrain, visual symptoms and musculoskeletal strain. A Visual Ergonomics Risk Assessment Method (VERAM) consisting of both a subjective questionnaire and an objective risk assessment, have been used at 217 workplaces, mainly computer work. VERAM can be used to examine and prevent deficiencies and increase wellbeing as well as detecting risks in the visual work environment and suggest measures that can be used to reduce the risks. The questionnaire showed that eyestrain, visual symptoms and musculoskeletal strain are common among Swedish workers. The overall risk assessments for glare and amount of illuminance on work surface are divided into three categories, green – no risk, yellow – risk, and red – high risk. Risk of glare and insufficient illuminance was present at 66% and 49% of the assessed workplaces, respectively. When the risk of glare and illuminance levels was rated as red, the frequency of the subjective strain was higher.
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| 6. |
- Mendoza-Collazos, Juan Carlos, et al.
(författare)
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Responsibility of Action and Situated Cognition in Artefact—User Relationship
- 2021
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Ingår i: Proceedings of the 21st Congress of the International Ergonomics Association (IEA 2021) : Volume 1: Systems and Macroergonomics - Volume 1: Systems and Macroergonomics. - Cham : Springer International Publishing. - 2367-3389 .- 2367-3370. - 9783030746018 - 9783030746025 ; 219, s. 211-216
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Konferensbidrag (refereegranskat)abstract
- I discuss the dilution of responsibility of action and the idea of a symmetrical relationship between artefacts and humans. In doing so, I argue that meaning making is an activity unilaterally performed by agents, leading to an asymmetrical relationship between agents and artefacts. Therefore, the study of the one who is responsible for the action, the meaning-maker (with the capability to act) is crucial for a theory of action responsibility. The latter should not be transferred to derived agents, an abstract brand or impersonal technologies. The study of the origin of actions is crucial for a better understanding of situated cognition in relation to responsibility. Therefore, the role of artefacts in human actions has to be reconsidered, since artefacts acquire functions by means of designing and they do not act for themselves. These issues have consequences for our understanding of situated cognition and for the current debate on responsibility of AI technologies, as well as for work analysis and design.
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| 7. |
- Nilsson, Kerstin, et al.
(författare)
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Are My Employees Able to and Do They Want to Work? : The Baseline Investigation in a Follow up Study Regarding Managers’ Attitudes and Measures to Increase Employees’ Employability in an Extended Working Life
- 2021
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Ingår i: Proceedings of the 21st Congress of the International Ergonomics Association (IEA 2021) : Volume II: Inclusive Design - Volume II: Inclusive Design. - Cham : Springer International Publishing. - 2367-3370 .- 2367-3389. - 9783030746049 - 9783030746056 ; 220, s. 10-16
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Konferensbidrag (refereegranskat)abstract
- Background: The demographic change affects the retirement age, which has been postponed in many countries. Therefore, the number of senior employees is increasing in the world. However, managers’ attitudes towards their employees’ employability affect the employees’ possibilities regarding whether they can and want to work. Objective: The aim of this study was to evaluate managers’ attitudes towards their employees’ employability and what factors and measures that affect whether employees can and want to work in an extended working life. Method: The study population in this study consists of 249 municipality managers in Sweden, from a baseline investigation in a follow up study following the swAge-questionnaire. The data was analysed through the method of logistic regression. Results: 79% of the managers stated that their employees ‘can’ work and 58% that their employees ‘want to’ work until 65 years or older. Managers believed their employees’ health, physical work environment, skills and competence were associated to if they would be able to work until 65 years or older. Lack of support in the social work environment and lack of possibilities to arrange relocations if needed were associated to whether managers believed their employees want to work. Conclusions: The results indicate that the postponement the retirement age must be followed by measures in the employees’ work situation in order to decrease demands, increase rotation or change work tasks if needed, as well as increased possibilities to recuperate through reduced workload, reduced work pace and reduced working hours. The results will hopefully contribute to the understanding of needed organisational measures in the process of extending working life.
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| 8. |
- Nilsson, Kerstin, et al.
(författare)
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Management, Measures and Maintenance: : Success and Setbacks in Interventions Promoting a Healthy and Sustainable Employability and Working Life for All Ages
- 2021
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Ingår i: Proceedings of the 21st Congress of the International Ergonomics Association (IEA 2021) : Volume II: Inclusive Design - Volume II: Inclusive Design. - Cham : Springer International Publishing. - 2367-3370 .- 2367-3389. - 9783030746049 - 9783030746056 ; 220, s. 17-24, s. 17-24
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Konferensbidrag (refereegranskat)abstract
- Background: The labour force is ageing due to the demographic change and the postponement of old-age retirement in many countries. Objective: In order to increase the possibility for employees to maintain their employability and to keep working in an extended working life this intervention project tested a distance education as a technique to integrate a theoretical model for a sustainable working life for all ages (the swAge-model) as a practical management tool in fourteen municipality managers’ ordinary work situation. Results: Most of the participating managers had difficulty completing the entire training program in this intervention project due to external circumstances, such as the COVID-19 pandemic and re-organisations, and because no extra time during working hours had been allocated to the managers to participate in the intervention project. Despite this, all participating managers appreciated being given the opportunity to participate and take part in the content of the intervention. Everyone considered the theoretical model, the wage model, on which the intervention project was based, to be very useful and to have given them new insights into their managerial duties. Conclusions: If society and organisations want a larger amount of employees to participate in working life until an older age, they also need to allocate working hours for managers to acquire new knowledge on how to create healthy and sustainable workplaces for all ages, as well as to implement these tools, measures and working methods permanently in the daily organisational work.
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| 9. |
- Persson, Johanna, et al.
(författare)
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User evaluation of a national e-library for standardized chemotherapy regimens
- 2021
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Ingår i: Proceedings of the 21st Congress of the International Ergonomics Association (IEA 2021) : Volume IV: Healthcare and Healthy Work - Volume IV: Healthcare and Healthy Work. - Cham : Springer International Publishing. - 2367-3370. - 9783030746117 - 9783030746100 ; 222, s. 175-181
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Konferensbidrag (refereegranskat)abstract
- An e-library for standardized chemotherapy regimens has been developed and is, since 2015, available as a national resource for healthcare staff and patients in cancer treatment in Sweden. The library was developed in a user-centered design process and is now evaluated to understand how it is used and if it is used in the intended way. This paper presents the e-library in brief together with preliminary results from the ongoing user evaluation, including results from a web survey, web page statistics, and a heuristic evaluation to identify usability issues. The evaluation is a vital part in assuring that the library works as a patient safety barrier, matches the users’ needs, and that it does not have design flaws that could introduce new risks in the already complex chemotherapy process. The results indicate that the library is being used in the intended way and the users do not have any problems interacting with it. With a broad national usage, the standardized chemotherapy regimens e-library can be a source for organizational and national learning, and a source for continuous improvement of cancer care in Sweden.
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| 10. |
- Schiefer, Christoph, et al.
(författare)
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PEPPA - Exchange Platform for Measurements of Occupational Physical Activity and Physical Workload
- 2022
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Ingår i: Proceedings of the 21st Congress of the International Ergonomics Association, IEA 2021 : Methods and Approaches - Methods and Approaches. - Cham : Springer International Publishing. - 2367-3389 .- 2367-3370. - 9783030746131 ; 223 LNNS, s. 175-182, s. 175-182
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Konferensbidrag (refereegranskat)abstract
- Technical measurements allow an objective assessment of MSD risk factors at work. There is a need for common standards regarding data collection and processing, as well as an exchange platform storing measurement data of occupational physical activity and workload for further analysis. Several research institutes started a feasibility study to work on developing standards for assessment of risk factors and implement them in an exchange platform prototype. The first prototype already demonstrates a technical feasibility. Coordination and structure of the contents, as well as estimates of costs and efforts needed for further development need more examination in order to arrive at a final platform with good feasibility.
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