| 1. |
- Acosta-Herrera, M, et al.
(författare)
-
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases
- 2019
-
Ingår i: Annals of the rheumatic diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 78:3, s. 311-319
-
Tidskriftsartikel (refereegranskat)abstract
- Immune-mediated inflammatory diseases (IMIDs) are heterogeneous and complex conditions with overlapping clinical symptoms and elevated familial aggregation, which suggests the existence of a shared genetic component. In order to identify this genetic background in a systematic fashion, we performed the first cross-disease genome-wide meta-analysis in systemic seropositive rheumatic diseases, namely, systemic sclerosis, systemic lupus erythematosus, rheumatoid arthritis and idiopathic inflammatory myopathies.MethodsWe meta-analysed ~6.5 million single nucleotide polymorphisms in 11 678 cases and 19 704 non-affected controls of European descent populations. The functional roles of the associated variants were interrogated using publicly available databases.ResultsOur analysis revealed five shared genome-wide significant independent loci that had not been previously associated with these diseases: NAB1, KPNA4-ARL14, DGQK, LIMK1 and PRR12. All of these loci are related with immune processes such as interferon and epidermal growth factor signalling, response to methotrexate, cytoskeleton dynamics and coagulation cascade. Remarkably, several of the associated loci are known key players in autoimmunity, which supports the validity of our results. All the associated variants showed significant functional enrichment in DNase hypersensitivity sites, chromatin states and histone marks in relevant immune cells, including shared expression quantitative trait loci. Additionally, our results were significantly enriched in drugs that are being tested for the treatment of the diseases under study.ConclusionsWe have identified shared new risk loci with functional value across diseases and pinpoint new potential candidate loci that could be further investigated. Our results highlight the potential of drug repositioning among related systemic seropositive rheumatic IMIDs.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
- Gottberg, K, et al.
(författare)
-
Individual Face-to-Face Cognitive Behavioural Therapy in Multiple Sclerosis : A Qualitative Study
- 2016
-
Ingår i: Journal of Clinical Psychology. - : Wiley. - 0021-9762 .- 1097-4679. ; 72:7, s. 651-662
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate how people with multiple sclerosis (MS) experience their participation in individual, face-to-face cognitive behavioural therapy (CBT) aimed at alleviating depressive symptoms.METHOD: Semistructured interviews with 12 participants were conducted after CBT and analyzed using qualitative content analysis.RESULTS: Two main themes emerged: CBT as a demanding process and confronting everyday life after CBT with self-knowledge and well-being. The participants had gained strategies for handling feelings of depression and anxiety. The therapist was considered important for guiding them through the demanding therapy.CONCLUSION: It is important to inform the participants of what CBT entails so that they are mentally prepared for the demanding process and can make the necessary adjustments in their daily life. Knowledge of MS among the therapists as well as collaboration with the multidisciplinary MS care may facilitate participation in CBT.
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
- Shao, WG, et al.
(författare)
-
The SysteMHC Atlas project
- 2018
-
Ingår i: Nucleic acids research. - : Oxford University Press (OUP). - 1362-4962 .- 0305-1048. ; 46:D1, s. D1237-D1247
-
Tidskriftsartikel (refereegranskat)
|
|
| 9. |
|
|
| 10. |
|
|
| 11. |
|
|
| 12. |
|
|
| 13. |
|
|
| 14. |
- Guidetti, S., et al.
(författare)
-
Development and evaluation of the effect and feasibility of a person-centred multidisciplinary intervention for rehabilitation after stroke
- 2018
-
Ingår i: International Journal of Stroke. - : Sage Publications. - 1747-4930 .- 1747-4949. ; 13:Suppl. 3, s. 62-62
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: The aim of this study was to evaluate the feasibility of using a person-centred ICT based intervention (F@CE) within multidisciplinary teams to increase the clients’ participation in everyday life after stroke in terms of study design and outcomes. The F@CE intervention was developed in collaboration with web developers and future users based on the Medical Research Council guidelines. A web-platform was created to provide a structure for the rehabilitation process and facilitate change by integrating a global problem solving strategy with SMS-reminders. Methods: 3 teams consisting of occupational therapists and physiotherapists working in neurological rehabilitation took part in 3 workshops including lectures, discussions and practical exercises. The participating teams then enrolled 10 clients with stroke that participated in the intervention. Goals were set using COPM and the clients scored their 3 goals each day during 8 weeks. Data was collected at inclusion, at 4 and 8 weeks using COPM, SIS, Self-Efficacy, LISAT-11, follow-up survey, daily ratings in the web-platform and by logbooks. Results: Response rates were 44–100% (mean 78%). Improvement was shown by COPM on both performance and satisfaction. In SIS 3.0 the items strength and ADL were those were the largest proportion of participants had improved at follow-up were strength and ADL/IADL (80 %) followed by memory, communication and mobility (70 %). Conclusion: All were satisfied with F@CE and the benefits of daily reminders of the goals which encouraged them to be more active. The only downside described was that they felt obligated to practice, although described as “a positive must”.
|
|
| 15. |
|
|
| 16. |
|
|
| 17. |
|
|
| 18. |
|
|
| 19. |
|
|
| 20. |
|
|
| 21. |
|
|
| 22. |
|
|
| 23. |
- Lundberg, IE, et al.
(författare)
-
2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups
- 2017
-
Ingår i: Annals of the rheumatic diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 76:12, s. 1955-1964
-
Tidskriftsartikel (refereegranskat)abstract
- To develop and validate new classification criteria for adult and juvenile idiopathic inflammatory myopathies (IIM) and their major subgroups.MethodsCandidate variables were assembled from published criteria and expert opinion using consensus methodology. Data were collected from 47 rheumatology, dermatology, neurology and paediatric clinics worldwide. Several statistical methods were used to derive the classification criteria.ResultsBased on data from 976 IIM patients (74% adults; 26% children) and 624 non-IIM patients with mimicking conditions (82% adults; 18% children), new criteria were derived. Each item is assigned a weighted score. The total score corresponds to a probability of having IIM. Subclassification is performed using a classification tree. A probability cut-off of 55%, corresponding to a score of 5.5 (6.7 with muscle biopsy) ‘probable IIM’, had best sensitivity/specificity (87%/82% without biopsies, 93%/88% with biopsies) and is recommended as a minimum to classify a patient as having IIM. A probability of ≥90%, corresponding to a score of ≥7.5 (≥8.7 with muscle biopsy), corresponds to ‘definite IIM’. A probability of <50%, corresponding to a score of <5.3 (<6.5 with muscle biopsy), rules out IIM, leaving a probability of ≥50 to <55% as ‘possible IIM’.ConclusionsThe European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) classification criteria for IIM have been endorsed by international rheumatology, dermatology, neurology and paediatric groups. They employ easily accessible and operationally defined elements, and have been partially validated. They allow classification of ‘definite’, ‘probable’ and ‘possible’ IIM, in addition to the major subgroups of IIM, including juvenile IIM. They generally perform better than existing criteria.
|
|
| 24. |
|
|
| 25. |
|
|
| 26. |
|
|
| 27. |
|
|
| 28. |
|
|
| 29. |
|
|
| 30. |
|
|
| 31. |
|
|
| 32. |
|
|
| 33. |
- Ytterberg, A Jimmy, et al.
(författare)
-
Shared immunological targets in the lungs and joints of patients with rheumatoid arthritis : identification and validation
- 2015
-
Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 0003-4967 .- 1468-2060. ; 74:9, s. 1772-1777
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: Immunological events in the lungs might trigger production of anti-citrullinated protein antibodies during early rheumatoid arthritis (RA). We investigated the presence of shared immunological citrullinated targets in joints and lungs of patients with RA.PATIENTS AND METHODS: Proteins extracted from bronchial (n=6) and synovial (n=7) biopsy specimens from patients with RA were investigated by mass spectrometry-based proteomics. One candidate peptide was synthesised and used to investigate by ELISA the presence of antibodies in patients with RA (n=393), healthy controls (n=152) and disease controls (n=236). HLA-DRB1 shared epitope (SE) alleles were detected in patients with RA.RESULTS: Ten citrullinated peptides belonging to seven proteins were identified, with two peptides shared between the synovial and bronchial biopsy samples. Further analysis, using accurate mass and retention time, enabled detection of eight citrullinated peptides in synovial and seven in bronchial biopsy specimens, with five peptides shared between the synovial and bronchial biopsy specimens. Two citrullinated vimentin (cit-vim) peptides were detected in the majority of synovial and lung tissues. Antibodies to a synthesised cit-vim peptide candidate (covering both cit-vim peptides identified in vivo) were present in 1.8% of healthy controls, 15% of patients with RA, and 3.4% of disease controls. Antibodies to cit-vim peptide were associated with the presence of the SE alleles in RA.CONCLUSIONS: Identical citrullinated peptides are present in bronchial and synovial tissues, which may be used as immunological targets for antibodies of patients with RA. The data provide further support for a link between lungs and joints in RA and identify potential targets for immunity that may mediate this link.
|
|
| 34. |
|
|
| 35. |
|
|
