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- 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. |
- Alme, Tomas Nordheim, et al.
(författare)
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Chronic fatigue syndromes: real illnesses that people can recover from
- 2023
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Ingår i: Scandinavian Journal of Primary Health Care. - : TAYLOR & FRANCIS LTD. - 0281-3432 .- 1502-7724. ; 41:4, s. 372-376
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Tidskriftsartikel (refereegranskat)abstract
- The Oslo Chronic Fatigue Consortium consists of researchers and clinicians who question the current narrative that chronic fatigue syndromes, including post-covid conditions, are incurable diseases. Instead, we propose an alternative view, based on research, which offers more hope to patients. Whilst we regard the symptoms of these conditions as real, we propose that they are more likely to reflect the brains response to a range of biological, psychological, and social factors, rather than a specific disease process. Possible causes include persistent activation of the neurobiological stress response, accompanied by associated changes in immunological, hormonal, cognitive and behavioural domains. We further propose that the symptoms are more likely to persist if they are perceived as threatening, and all activities that are perceived to worsen them are avoided. We also question the idea that the best way to cope with the illness is by prolonged rest, social isolation, and sensory deprivation.Instead, we propose that recovery is often possible if patients are helped to adopt a less threatening understanding of their symptoms and are supported in a gradual return to normal activities. Finally, we call for a much more open and constructive dialogue about these conditions. This dialogue should include a wider range of views, including those of patients who have recovered from them.
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| 4. |
- Erlandsson, Kerstin, 1961-, et al.
(författare)
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Strengthening the integration of midwifery in health systems; a leader-to-leader collaboration.
- 2023
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Ingår i: Journal of Asian Midwives. - 2409-2290. ; 10:2, s. 68-73
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Tidskriftsartikel (refereegranskat)abstract
- Barriers and facilitators for quality midwifery care exist on different levels in the health systems. After decades of challenges and varied degrees of success, a stakeholder leader-to-leader collaboration could provide added value through knowledge sharing on how to integrate the midwifery cadre into an existing health system. Initiated by The Midwifery Society of Nepal, Dalarna University Sweden and MAMTA-Health Institute for Mother and Child India, a research network focusing midwifery has been formed. The background, purpose and activities of this network has been described in this News and Events paper.
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| 5. |
- Gamble, Carrol, et al.
(författare)
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Timing of Primary Surgery for Cleft Palate.
- 2023
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Ingår i: The New England journal of medicine. - : Massachusetts Medical Society. - 1533-4406 .- 0028-4793. ; 389:9, s. 795-807
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Tidskriftsartikel (refereegranskat)abstract
- Among infants with isolated cleft palate, whether primary surgery at 6 months of age is more beneficial than surgery at 12 months of age with respect to speech outcomes, hearing outcomes, dentofacial development, and safety is unknown.We randomly assigned infants with nonsyndromic isolated cleft palate, in a 1:1 ratio, to undergo standardized primary surgery at 6 months of age (6-month group) or at 12 months of age (12-month group) for closure of the cleft. Standardized assessments of quality-checked video and audio recordings at 1, 3, and 5 years of age were performed independently by speech and language therapists who were unaware of the trial-group assignments. The primary outcome was velopharyngeal insufficiency at 5 years of age, defined as a velopharyngeal composite summary score of at least 4 (scores range from 0 to 6, with higher scores indicating greater severity). Secondary outcomes included speech development, postoperative complications, hearing sensitivity, dentofacial development, and growth.We randomly assigned 558 infants at 23 centers across Europe and South America to undergo surgery at 6 months of age (281 infants) or at 12 months of age (277 infants). Speech recordings from 235 infants (83.6%) in the 6-month group and 226 (81.6%) in the 12-month group were analyzable. Insufficient velopharyngeal function at 5 years of age was observed in 21 of 235 infants (8.9%) in the 6-month group as compared with 34 of 226 (15.0%) in the 12-month group (risk ratio, 0.59; 95% confidence interval, 0.36 to 0.99; P=0.04). Postoperative complications were infrequent and similar in the 6-month and 12-month groups. Four serious adverse events were reported (three in the 6-month group and one in the 12-month group) and had resolved at follow-up.Medically fit infants who underwent primary surgery for isolated cleft palate in adequately resourced settings at 6 months of age were less likely to have velopharyngeal insufficiency at the age of 5 years than those who had surgery at 12 months of age. (Funded by the National Institute of Dental and Craniofacial Research; TOPS ClinicalTrials.gov number, NCT00993551.).
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| 7. |
- Leung, Ying-Ying, et al.
(författare)
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Management of Peripheral Arthritis in Patients With Psoriatic Arthritis : An Updated Literature Review Informing the 2021 GRAPPA Treatment Recommendations
- 2023
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Ingår i: Journal of Rheumatology. - : The Journal of Rheumatology. - 0315-162X .- 1499-2752. ; 50:1, s. 119-130
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Forskningsöversikt (refereegranskat)abstract
- Objective We aimed to compile evidence for the efficacy and safety of therapeutic options for the peripheral arthritis domain of psoriatic arthritis (PsA) for the revised 2021 Group in Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA) treatment recommendations.Methods A working group consisting of clinicians and patient research partners was convened. We reviewed the evidence from new randomized controlled trials (RCTs) for PsA treatment from February 19, 2013, to August 28, 2020. We used the Grading of Recommendations Assessment, Development, and Evaluation (GRADE)-informed approach to derive evidence for the classes of therapeutic options for 3 patient groups: (1) naïve to treatment, (2) inadequate response to conventional synthetic disease-modifying antirheumatic drugs (csDMARDs), and (3) inadequate response to biologic DMARDs (bDMARDs). Recommendations were derived through consensus meetings.Results The evidence review included 69 RCTs. We derived GRADE evidence for each class of therapeutic options and achieved consensus for the recommendations. For patients naïve to treatment, the working group strongly recommends csDMARDs (methotrexate, sulfasalazine, leflunomide) and phosphodiesterase 4 inhibitors, and emphasizes regular assessment and early escalation to achieve treatment target. bDMARDs (tumor necrosis factor inhibitors [TNFi], interleukin 17 inhibitors [IL-17i], IL-12/23i, IL-23i) and Janus kinase inhibitors (JAKi) are also strongly recommended. For patients with inadequate response to csDMARDs, we strongly recommend TNFi, IL-17i, IL-12/23i, IL-23i, and JAKi. For those who had prior experience with bDMARDs, we strongly recommend a second TNFi, IL-17i, IL-23i, and JAKi. The evidence supporting nonpharmacological interventions was very low. An expert panel conditionally recommends adequate physical activity, smoking cessation, and diet to control weight gain.Conclusion Evidence supporting optimal therapy for the peripheral arthritis domain of PsA was compiled for the revised 2021 GRAPPA treatment recommendations.
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| 8. |
- Pedersen, Helena, 1968
(författare)
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Anatomies of desire: Education and human exceptionalism after Anti-Oedipus
- 2024
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Ingår i: Educational Philosophy and Theory. - : Informa UK Limited. - 0013-1857 .- 1469-5812. ; 56:3, s. 252-261
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Tidskriftsartikel (refereegranskat)abstract
- In line with Andrew Culp's work Dark Deleuze (2016) and in opposition to the tendency in some education studies communities to selectively engage affirmative and vitalist dimensions of Deleuze's work, this article engages the radical critical theory foundation of Anti-Oedipus (1972/2009) by exploring anatomies of desire at work around students and animals in educational practice. Desiring-machines, with their capacity to produce repression as much as revolution; freedom as much as fascism and slavery take on specific and outlandish manifestations in the presence of animals in different educational settings. Drawing on ethnographic data from upper secondary school and higher education, the article identifies the subjectivation of students to implements of animal killing and control, and to the risk of physical harm accompanying work with wild animals, as constitutive anatomies of desire in these settings. The article argues that the way society and education make use of animals is emblematic of multiple and accelerating social-ecological crises. Emerging from Deleuze and Guattari's unsettling question, why we invest in the systems that destroy us, is not only a hierarchical human exceptionalism, but an invasive human expansionism that forces itself upon other species as well as upon philosophy of education in the 21st century.
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| 10. |
- Pedersen, Helena, 1968, et al.
(författare)
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Cross-disciplinary method development for assessing dog welfare in canine-assisted pedagogical work: a pilot study
- 2023
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Ingår i: Journal of Applied Animal Welfare Science. - 1088-8705 .- 1532-7604.
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Tidskriftsartikel (refereegranskat)abstract
- Research on so-called social service dogs' welfare in schools is scarce and tends to suffer from positive bias; i.e., lacking critical approaches to claimed welfare benefits for dogs. To contribute method development for studying effects on dogs in pedagogical work, we applied and evaluated a combination of four data collection methods: Ethogram, Qualitative Behaviour Assessment (QBA), ethnographic observations, and interviews with dog-handling pedagogues. We followed pedagogues (n = 5) and their dogs (n = 8) in their daily work, observing 16 canine-assisted sessions in total at five different schools. Follow-up semi-structured interviews were carried out with all pedagogues. Our findings suggest combining either ethogram or QBA with ethnographic data that gives contextual information on the events causing the dog's behavior. The method choice will, ultimately, depend on study design, but the specific premises of QBA seem to work particularly well with ethnography. We further suggest a shift from simultaneous (parallel) to synchronous (connected) documentation of data. To minimize anthropocentric bias and power arrangements involved in animal welfare research, it is necessary to critically scrutinize accepted conventions regarding social service dogs and their work situation.
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