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Sökning: WFRF:(Aléx Jonas 1975 ) > (2022)

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  • Kanoni, Stavroula, et al. (författare)
  • Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
  • 2022
  • Ingår i: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
  • 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.
  • Zetterberg, Johanna, et al. (författare)
  • Nurses’ experiences of encountering patients with mental illness in prehospital emergency care – a qualitative interview study
  • 2022
  • Ingår i: BMC Nursing. - : BioMed Central. - 1472-6955. ; 21:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Nurses working in prehospital emergency care (PEC) encounter patients with all types of health conditions. Increasingly, they are encountering patients suffering from mental illness and this trend reflects the worldwide increase in mental illness. There is very little current knowledge of encounters between nurses and patients with mental illness in ‘PEC’, especially from the nurses’ perspectives.Aim The aim of the study is to investigate nurses’ experiences of encountering patients with mental illness in ‘PEC’.Methods The participants were recruited in a region in southeast Sweden (that covers approximately 5600 km2 and has 300,000 inhabitants). In total, 17 nurses consented to participate. The participants were asked to narrate their individual experience of encountering patients with mental illness. The interviews were transcribed verbatim, then analysed with qualitative content analysis.Results The result is presented in terms of three themes and eight sub-themes. The main themes are ‘Lacking trust in the patient and one’s own abilities’, ‘Being under internal and external influences’ and ‘Moving towards a genuine nurse-patient relationship’.Conclusion The results show that nurses strive to lay the foundation for a trusting relationship. Simultaneously nurses encountering is characterized by a mistrust and it is influenced by pre-understanding and emotions when they take care for patients. The findings could be used to develop nurses’ readiness and capability to encounter patients with mental illness and to respond appropriately to the patients somatic and mental care needs.
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