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- Palmer, Nicholette D, et al.
(författare)
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A genome-wide association search for type 2 diabetes genes in African Americans.
- 2012
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Ingår i: PloS one. - San Francisco : Public Library of Science (PLoS). - 1932-6203. ; 7:1, s. e29202-
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Tidskriftsartikel (refereegranskat)abstract
- African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P = 7.0×10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.
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- Voight, Benjamin F., et al.
(författare)
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Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:7, s. 579-589
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Tidskriftsartikel (refereegranskat)abstract
- By combining genome-wide association data from 8,130 individuals with type 2 diabetes (T2D) and 38,987 controls of European descent and following up previously unidentified meta-analysis signals in a further 34,412 cases and 59,925 controls, we identified 12 new T2D association signals with combined P < 5 x 10(-8). These include a second independent signal at the KCNQ1 locus; the first report, to our knowledge, of an X-chromosomal association (near DUSP9); and a further instance of overlap between loci implicated in monogenic and multifactorial forms of diabetes (at HNF1A). The identified loci affect both beta-cell function and insulin action, and, overall, T2D association signals show evidence of enrichment for genes involved in cell cycle regulation. We also show that a high proportion of T2D susceptibility loci harbor independent association signals influencing apparently unrelated complex traits.
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- Temmink, R. J. M., et al.
(författare)
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Mimicry of emergent traits amplifies coastal restoration success
- 2020
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Restoration is becoming a vital tool to counteract coastal ecosystem degradation. Modifying transplant designs of habitat-forming organisms from dispersed to clumped can amplify coastal restoration yields as it generates self-facilitation from emergent traits, i.e. traits not expressed by individuals or small clones, but that emerge in clumped individuals or large clones. Here, we advance restoration science by mimicking key emergent traits that locally suppress physical stress using biodegradable establishment structures. Experiments across (sub)tropical and temperate seagrass and salt marsh systems demonstrate greatly enhanced yields when individuals are transplanted within structures mimicking emergent traits that suppress waves or sediment mobility. Specifically, belowground mimics of dense root mats most facilitate seagrasses via sediment stabilization, while mimics of aboveground plant structures most facilitate marsh grasses by reducing stem movement. Mimicking key emergent traits may allow upscaling of restoration in many ecosystems that depend on self-facilitation for persistence, by constraining biological material requirements and implementation costs.
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| 7. |
- Duffy, J. E., et al.
(författare)
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Biodiversity mediates top-down control in eelgrass ecosystems: a global comparative-experimental approach
- 2015
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Ingår i: Ecology Letters. - : Wiley. - 1461-023X .- 1461-0248. ; 18:7, s. 696-705
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Tidskriftsartikel (refereegranskat)abstract
- Nutrient pollution and reduced grazing each can stimulate algal blooms as shown by numerous experiments. But because experiments rarely incorporate natural variation in environmental factors and biodiversity, conditions determining the relative strength of bottom-up and top-down forcing remain unresolved. We factorially added nutrients and reduced grazing at 15 sites across the range of the marine foundation species eelgrass (Zostera marina) to quantify how top-down and bottom-up control interact with natural gradients in biodiversity and environmental forcing. Experiments confirmed modest top-down control of algae, whereas fertilisation had no general effect. Unexpectedly, grazer and algal biomass were better predicted by cross-site variation in grazer and eelgrass diversity than by global environmental gradients. Moreover, these large-scale patterns corresponded strikingly with prior small-scale experiments. Our results link global and local evidence that biodiversity and top-down control strongly influence functioning of threatened seagrass ecosystems, and suggest that biodiversity is comparably important to global change stressors.
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- Bostrom, P, et al.
(författare)
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Is irisin a human exercise gene? Reply
- 2012
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Ingår i: NATURE. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 488:7413, s. E10-E11
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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- Discepola, MN, et al.
(författare)
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Effects of non-pharmacological and non-surgical interventions on health outcomes in systemic sclerosis: protocol for a living systematic review
- 2021
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 11:5, s. e047428-
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Tidskriftsartikel (refereegranskat)abstract
- Systemic sclerosis (SSc; scleroderma) is a rare, chronic, autoimmune disease with a high level of burden, a significant impact on the ability to carry out daily activities, and a considerable negative impact on health-related quality of life. Non-pharmacological interventions could be provided to potentially improve mental and physical health outcomes. However, the effectiveness of non-pharmacological interventions on health and well-being among individuals with SSc has not been well established. The proposed living systematic review aims to identify and evaluate randomised controlled trial (RCT) evidence on the effectiveness of non-pharmacological and non-surgical interventions on mental and physical health outcomes and on the delivery of such services in SSc.Methods and analysisEligible studies will be RCTs that examine non-pharmacological and non-surgical interventions aimed at improving health outcomes among individuals with SSc or the delivery of services intended to improve healthcare or support of people with SSc (eg, support groups). All RCTs included in a previous systematic review that sought studies published between 1990 and March 2014 will be evaluated for inclusion. Additional trials will be sought from January 2014 onwards using a similar, augmented search strategy developed by a health sciences librarian. We will search the MEDLINE, Embase, CINAHL, PsycINFO, Cochrane Library and Web of Science databases and will not restrict by language. Two independent reviewers will determine the eligibility of identified RCTs and will extract data using a prespecified standardised form in DistillerSR. Meta-analyses will be considered if ≥2 eligible RCTs report similar non-pharmacological interventions and comparable health outcomes. We will conduct a qualitative synthesis for interventions that cannot be synthesised via meta-analysis.Ethics and disseminationWe will post initial and ongoing results via a website, publish results periodically via peer-reviewed journal publication, and present results at patient-oriented events.PROSPERO registration numberCRD42020219914.
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- Knuuttila, M., et al.
(författare)
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Intratumoral androgen levels are linked to TMPRSS2-ERG fusion in prostate cancer
- 2018
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Ingår i: Endocrine-Related Cancer. - : Bioscientifica. - 1351-0088 .- 1479-6821. ; 25:9, s. 807-819
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Tidskriftsartikel (refereegranskat)abstract
- Intratumoral androgen biosynthesis is one of the mechanisms involved in the progression of prostate cancer, and an important target for novel prostate cancer therapies. Using gas chromatography-tandem mass spectrometry and genome-wide RNA sequencing, we have analyzed androgen concentrations and androgen-regulated gene expression in cancerous and morphologically benign prostate tissue specimens and serum samples obtained from 48 primary prostate cancer patients. Intratumoral dihydrotestosterone (DHT) concentrations were significantly higher in the cancerous tissues compared to benign prostate (P < 0.001). The tissue/serum ratios of androgens were highly variable between the patients, indicating individual patterns of androgen metabolism and/or uptake of androgens within the prostate tissue. An unsupervised hierarchical clustering analysis of intratissue androgen concentrations indicated that transmembrane protease, serine 2/ETS-related gene (TMPRSS2-ERG)-positive patients have different androgen profiles compared to TMPRSS2-ERG- negative patients. TMPRSS2-ERG gene fusion status was also associated with an enhanced androgen-regulated gene expression, along with altered intratumoral androgen metabolism, demonstrated by reduced testosterone concentrations and increased DHT/testosterone ratios in TMPRSS2-ERG-positive tumors. TMPRSS2-ERG-positive and - negative prostate cancer specimens have distinct intratumoral androgen profiles, possibly due to activation of testosterone-independent DHT biosynthesis via the alternative pathway in TMPRSS2-ERG-positive tumors. Thus, patients with TMPRSS2-ERG-positive prostate cancer may benefit from novel inhibitors targeting the alternative DHT biosynthesis.
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- Sperl, L, et al.
(författare)
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EDUCATIONAL NEEDS AMONG HEALTH PROFESSIONALS IN RHEUMATOLOGY: LOW AWARENESS OF EULAR OFFERINGS AND UNFAMILIARITY WITH COURSE CONTENT AS A MAJOR BARRIER - A EULAR FUNDED EUROPEAN SURVEY
- 2022
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Ingår i: ANNALS OF THE RHEUMATIC DISEASES. - : BMJ. - 0003-4967 .- 1468-2060. ; 81, s. 139-140
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Health professionals in rheumatology (HPRs) should participate in post-graduate or continuous education to update and advance their knowledge and skills. This can improve patient outcomes and increase quality of care.1 EULAR aims to become a leading provider of postgraduate education for HPRs.ObjectivesThe aims of this study were to evaluate the current motivations for participating in postgraduate education of HPRs, identify barriers and facilitators for participation in postgraduate education, and evaluate participation in the current educational offerings of EULAR for HPRs across Europe.MethodsAn online survey was developed and distributed in collaboration with the EULAR Standing Committee of Education and Training (ESCET) and the Paediatric Rheumatology European Society (PReS). The questionnaire was translated by national HPR representatives in 24 languages to cover the 25 national member organisations. Barriers were assessed using 5-point Likert scales, higher scores representing higher barriers. Quantitative data were analysed using descriptive statistics. In addition, we ran the Latent Dirichlet Allocation (LDA) on the answers to the open questions. LDA is an unsupervised probabilistic topic modelling technique that extracts the meanings of a pre-defined number of topics. Design of the survey and reporting of results were done according to the Checklist for Reporting Results of Internet E-Surveys (CHERRIES).ResultsThe online questionnaire was accessed 3,589 times but only 667 complete responses were recorded. HPRs from 34 European countries responded to the survey; 80% of whom were women. The highest-ranked educational need was prevention, including lifestyle interventions and professional development. Although EULAR was well known among HPRs, only 32.1% of HPRs in adult care and 18.6% of HPRs in paediatric care have ever heard of the EULAR School of Rheumatology (Table 1 A).Table 1.A: Feedback on EULAR. Data are presented separately for HPRs in adult and paediatric care; except for the filter questions, no mandatory questions were included in the survey. To clarify the number of responses per question, the number of valid answers for each question was reported.VariablesHPRs in adult careHPRs in paediatric careHave you ever heard of the EULAR School of Rheumatology?61443 I am not sure, n(%)62 (10.1%)7 (16.3%) No, n(%)355 (57.8%)28 (65.1%) Yes, n(%)197 (32.1%)8 (18.6%)Are you aware of courses offered by the EULAR School of Rheumatology? (sub question)1978 I am not sure, n(%)30 (15.2%)2 (25.0%) No, n(%)63 (32.0%)5 (62.5%) Yes, n(%)104 (52.8%)1 (12.5%)Have you ever attended one of the EULAR School of Rheumatology courses? (sub question)1031 I am not sure, n(%)1 (1.0%)0 No, n(%)47 (45.6%)0 Yes, n(%)55 (53.4%)1 (100%)Have you ever participated in a EULAR annual congress meeting?61843 I am not sure, n(%)11 (1.8%)0 No, n(%)457 (73.9%)39 (90.7%) Yes, n(%)150 (24.3%)4 (9.3%)The main barriers to participation in EULAR’s educational offerings were identified by HPRs in adult care and in paediatric care (respectively) as: the unfamiliarity with the course content (3.48 [±1.50]; 3.92 [±1.46]), the associated costs (3.44 [±1.35]; 3.69 [±1.28]) and English language (2.59 [±1.50]; 2.80 [±1.34]).ConclusionEULAR is well-known by HPRs in Europe, however, awareness of educational offerings is low and barriers to participation are numerous. To become the leading provider of postgraduate training by 2023, EULAR could use a “franchise” model that can be tailored to local conditions. This could be achieved by strengthening national organizations by actively involving them in the development of training programs and disseminating these programs and offerings through their networks.References[1]World Health Organization. Health workforce: Education and training: World Health Organization; 2019 [Available from: https://www.who.int/hrh/education/en/ accessed November, 2019 2019.Disclosure of InterestsLisa Sperl: None declared, Tanja Stamm Speakers bureau: AbbVie, Novartis, Roche, Sanofi, and Takeda, Consultant of: AbbVie and Sanofi Genzyme, Grant/research support from: AbbVie and Roche, Margaret Renn Andrews: None declared, Mathilda Bjork: None declared, Carina Boström: None declared, Jeannette Cappon: None declared, Jenny de la Torre-Aboki: None declared, Annette de Thurah: None declared, Andrea Domjan: None declared, Razvan Dragoi Speakers bureau: Received speaker fees last year from: Pfizer, Elly Lilly, Sandoz, Abbvie, Secom, EwoPharma, Fernando Estevez-Lopez: None declared, Ricardo J. O. Ferreira: None declared, George E. Fragoulis: None declared, Jolanta Grygielska: None declared, Katti Korve: None declared, Marja Leena Kukkurainen: None declared, Christel Madelaine-Bonjour: None declared, Andrea Marques: None declared, Jorit Meesters: None declared, Rikke Helene Moe: None declared, Ellen Moholt: None declared, Erika Mosor: None declared, Claudia Naimer-Stach: None declared, Mwidimi Ndosi: None declared, Polina Pchelnikova: None declared, Jette Primdahl: None declared, Polina Putrik: None declared, Anne-Kathrin Rausch Osthoff: None declared, Hana Smucrova: None declared, Sinisa Stefanac: None declared, Marco Testa: None declared, Leti van Bodegom-Vos: None declared, Wilfred Peter: None declared, Heidi A. Zangi: None declared, Olena Zimba: None declared, T.P.M. Vliet Vlieland: None declared, Valentin Ritschl: None declared
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| 33. |
- Zangi, HA, et al.
(författare)
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EULAR recommendations for patient education for people with inflammatory arthritis
- 2015
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Ingår i: Annals of the rheumatic diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 74:6, s. 954-962
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Tidskriftsartikel (refereegranskat)abstract
- The task force aimed to: (1) develop evidence-based recommendations for patient education (PE) for people with inflammatory arthritis, (2) identify the need for further research on PE and (3) determine health professionals’ educational needs in order to provide evidence-based PE.MethodsA multidisciplinary task force, representing 10 European countries, formulated a definition for PE and 10 research questions that guided a systematic literature review (SLR). The results from the SLR were discussed and used as a basis for developing the recommendations, a research agenda and an educational agenda. The recommendations were categorised according to level and strength of evidence graded from A (highest) to D (lowest). Task force members rated their agreement with each recommendation from 0 (total disagreement) to 10 (total agreement).ResultsBased on the SLR and expert opinions, eight recommendations were developed, four with strength A evidence. The recommendations addressed when and by whom PE should be offered, modes and methods of delivery, theoretical framework, outcomes and evaluation. A high level of agreement was achieved for all recommendations (mean range 9.4–9.8). The task force proposed a research agenda and an educational agenda.ConclusionsThe eight evidence-based and expert opinion-based recommendations for PE for people with inflammatory arthritis are intended to provide a core framework for the delivery of PE and training for health professionals in delivering PE across Europe.
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| 37. |
- Bech, B, et al.
(författare)
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2018 update of the EULAR recommendations for the role of the nurse in the management of chronic inflammatory arthritis
- 2020
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Ingår i: Annals of the rheumatic diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 79:1, s. 61-68
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Tidskriftsartikel (refereegranskat)abstract
- To update the European League Against Rheumatism (EULAR) recommendations for the role of the nurse in the management of chronic inflammatory arthritis (CIA) using the most up to date evidence. The EULAR standardised operating procedures were followed. A task force of rheumatologists, health professionals and patients, representing 17 European countries updated the recommendations, based on a systematic literature review and expert consensus. Higher level of evidence and new insights into nursing care for patients with CIA were added to the recommendation. Level of agreement was obtained by email voting. The search identified 2609 records, of which 51 (41 papers, 10 abstracts), mostly on rheumatoid arthritis, were included. Based on consensus, the task force formulated three overarching principles and eight recommendations. One recommendation remained unchanged, six were reworded, two were merged and one was reformulated as an overarching principle. Two additional overarching principles were formulated. The overarching principles emphasise the nurse’s role as part of a healthcare team, describe the importance of providing evidence-based care and endorse shared decision-making in the nursing consultation with the patient. The recommendations cover the contribution of rheumatology nursing in needs-based patient education, satisfaction with care, timely access to care, disease management, efficiency of care, psychosocial support and the promotion of self-management. The level of agreement among task force members was high (mean 9.7, range 9.6-10.0). The updated recommendations encompass three overarching principles and eight evidence-based and expert opinion-based recommendations for the role of the nurse in the management of CIA.
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- Bostrom, I, et al.
(författare)
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Sex ratio of multiple sclerosis in the National Swedish MS Register (SMSreg)
- 2013
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Ingår i: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1477-0970 .- 1352-4585. ; 19:1, s. 46-52
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Tidskriftsartikel (refereegranskat)abstract
- Sex ratio in multiple sclerosis has been reported from several geographical areas. The disease is more common in women. In Europe the female-to-male ratio varies from 1.1 to 3.4. A recent study from Canada has reported a significant increase, with time, in female-to-male ratio in multiple sclerosis over the last 100 years. Objective: The aim of this study was to analyse any change in sex ratio in multiple sclerosis in the Swedish population. Methods: Data from the Swedish MS Register and data from the Swedish National Statistics Office were used to estimate sex ratio by year of birth and year of onset. Results: In the analysis of sex ratio by year of birth there were 8834 patients (6271 women and 2563 men) born between 1931 and 1985. The mean women-to-men ratio was 2.62. No clear trend was noted for the women-to-men ratio by year of birth (Spearman’s rho = 0.345, p = 0.298, n = 11). The number of patients analysed by year of onset was 9098 during the time period 1946 until 2005. The mean women-to-men ratio was 2.57. No significant change in women-to-men ratio (Spearman’s rho = −0.007, p = 0.983, n = 12) with time was observed. Conclusion: There is no evidence for an increasing women-to-men ratio with time amongst Swedish multiple sclerosis patients.
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