| 1. |
- Acosta-Herrera, M, et al.
(författare)
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Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases
- 2019
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Ingår i: Annals of the rheumatic diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 78:3, s. 311-319
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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.
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| 10. |
- Gottberg, K, et al.
(författare)
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Individual Face-to-Face Cognitive Behavioural Therapy in Multiple Sclerosis : A Qualitative Study
- 2016
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Ingår i: Journal of Clinical Psychology. - : Wiley. - 0021-9762 .- 1097-4679. ; 72:7, s. 651-662
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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.
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- Ortiz-Fernandez, Lourdes, et al.
(författare)
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Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study
- 2021
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Ingår i: American Journal of Human Genetics. - CAMBRIDGE, MA USA : Cell Press. - 0002-9297 .- 1537-6605. ; 108:1, s. 84-99
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Tidskriftsartikel (refereegranskat)abstract
- Takayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations. We discovered HLA risk factors and four non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21 and reinforced IL12B, PTK2B, and chr21q22 as robust susceptibility loci shared across ancestries. Functional analysis proposed plausible underlying disease mechanisms and pinpointed ETS2 as a potential causal gene for chr21q22 association. We also identified >60 candidate loci with suggestive association (p < 5 x 10(-s)) and devised a genetic risk score for Takayasu arteritis. Takayasu arteritis was compared to hundreds of other traits, revealing the closest genetic relatedness to inflammatory bowel disease. Epigenetic patterns within risk loci suggest roles for monocytes and B cells in Takayasu arteritis. This work enhances understanding of the genetic basis and pathophysiology of Takayasu arteritis and provides clues for potential new therapeutic targets.
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| 16. |
- Shao, WG, et al.
(författare)
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The SysteMHC Atlas project
- 2018
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Ingår i: Nucleic acids research. - : Oxford University Press (OUP). - 1362-4962 .- 0305-1048. ; 46:D1, s. D1237-D1247
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Tidskriftsartikel (refereegranskat)
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| 19. |
- Backlund, J., et al.
(författare)
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C57BL/6 mice need MHC class II Aq to develop collagen-induced arthritis dependent on autoreactive T cells
- 2013
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Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 0003-4967 .- 1468-2060. ; 72:7, s. 1225-1232
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Collagen-induced arthritis (CIA) has traditionally been performed in MHC class II A(q)-expressing mice, whereas most genetically modified mice are on the C57BL/6 background (expressing the b haplotype of the major histocompatibility complex (MHC) class II region). However, C57BL/6 mice develop arthritis after immunisation with chicken-derived collagen type II (CII), but arthritis susceptibility has been variable, and the immune specificity has not been clarified. OBJECTIVE: To establish a CIA model on the C57BL/6 background with a more predictable and defined immune response to CII. RESULTS: Both chicken and rat CII were arthritogenic in C57BL/6 mice provided they were introduced with high doses of Mycobacterium tuberculosis adjuvant. However, contaminating pepsin was strongly immunogenic and was essential for arthritis development. H-2(b)-restricted T cell epitopes on chicken or rat CII could not be identified, but expression of A(q) on the C57BL/6 background induced T cell response to the CII260-270 epitope, and also prolonged the arthritis to be more chronic. CONCLUSIONS: The putative (auto)antigen and its arthritogenic determinants in C57BL/6 mice remains undisclosed, questioning the value of the model for addressing T cell-driven pathological pathways in arthritis. To circumvent this impediment, we recommend MHC class II congenic C57BL/6N.Q mice, expressing A(q), with which T cell determinants have been thoroughly characterised.
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| 21. |
- Claesson, IM, et al.
(författare)
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Rapid cognitive screening in multiple sclerosis accomplished by the Free Recall and Recognition Test
- 2007
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Ingår i: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1352-4585 .- 1477-0970. ; 13:2, s. 272-274
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Tidskriftsartikel (refereegranskat)abstract
- This study sought to investigate the feasibility of the Free Recall and Recognition Test (FRRT) as a practical screening tool for cognitive impairment in multiple sclerosis (MS). Persons with MS (n =227) were consecutively recruited and assessed with four cognitive tests; FRRT, Symbol Digit Modalities Test (SDMT), Paced Auditory Serial Addition Test (PASAT), and the Mini-Mental State Examination (MMSE). Disease severity was assessed by the Expanded Disability Status Scale (EDSS). The FRRT, which was completed by 99% of the cohort in approximately 5 minutes per assessment, correlated significantly with the other cognitive tests, as well as with the disease severity rating. A cut-off of 4 for the FRRT recall rendered 90% sensitivity and 25% specificity, and a cut-off of 4.2 for the FRRT recognition resulted in 70% sensitivity and 51% specificity. We conclude that the FRRT proved feasible as a practical screening tool for cognitive impairment in MS within a clinical setting. Multiple Sclerosis 2007; 13: 272–274. http://msj.sagepub.com
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| 24. |
- Einarsson, U, et al.
(författare)
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Cognitive and motor function in people with multiple sclerosis in Stockholm County
- 2006
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Ingår i: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1352-4585 .- 1477-0970. ; 12:3, s. 340-353
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to analyse cognitive and motor function in a population-based sample of people with multiple sclerosis (PwMS), taking into account both disease-related data and sociodemographic factors. Data were collected from 166 PwMS during home visits. Cognitive function was assessed by the Mini-Mental State Examination (MMSE), the Free Recall and Recognition of 12 Random Words Test (FRR12RWT), and the Symbol Digit Modalities Test (SDMT); manual dexterity by the Nine-Hole Peg Test (NHPT); global motor capacity by the Lindmark Motor Capacity Assessment; and walking capacity by a timed 10-metre walk. On cognitive tests, 55% (MMSE), 84% (FRR12RWT), and 45% (SDMT) of PwMS scored within the normal range; 27% of PwMS displayed normal manual dexterity, 9% had a maximal motor-capacity score, and 8% walked at normal speed. Factors associated with normal cognitive function were lower disability and higher education; lower disability and current employment were predictive of capacity to perform the NHPT and to walk 10 metres. In conclusion, cognitive function was normal in approximately half of the PwMS investigated, while a minority displayed normal manual dexterity and normal walking capacity. Thus, both disease severity and socio-demographic factors appear to influence cognitive and motor function in MS.
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| 30. |
- Gottberg, K, et al.
(författare)
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Health-related quality of life in a population-based sample of people with multiple sclerosis in Stockholm County
- 2006
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Ingår i: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1352-4585 .- 1477-0970. ; 12:5, s. 605-612
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this descriptive, cross-sectional study was to analyse health-related quality of life (HRQoL) in a population-based sample of people with multiple sclerosis (PwMS) in Stockholm County, with respect to disease-related and sociodemographic factors and coping capacity. A further aim was to compare our results on HRQoL - collected by face-to-face interviews at home-visits - with the results from a study with a mail-surveyed sample of PwMS in Stockholm. Home visits were made to 166 PwMS with clinically definite MS. Data were obtained from structured interviews using the Sickness Impact Profile (SIP), EuroQol-5D (EQ-5D) and the Sense of Coherence Scale. HRQoL was widely affected, especially in home management, walking and recreation. Self-rated HRQoL was worse in PwMS, including those with milder disease and shorter disease duration, than in the general population. Factors that were independently associated with large impact on HRQoL were disease severity, work status and coping capacity. The EQ-5D score of PwMS was more favourable when assessed by face-to face interviews at home in our study than in the study using mailed questionnaires. The study gives detailed information on HRQoL and will contribute to the base needed for organizing health care services aimed at improving HRQoL of PwMS in Stockholm.
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| 32. |
- Gottberg, K, et al.
(författare)
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Use of health care services and satisfaction with care in people with multiple sclerosis in Stockholm County: a population-based study
- 2008
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Ingår i: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1352-4585 .- 1477-0970. ; 14:7, s. 962-971
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Tidskriftsartikel (refereegranskat)abstract
- Objectives To explore and to describe the use of health, social, and informal care services and satisfaction with care in a population-based sample of people with multiple sclerosis (PwMS) in Stockholm County. Methods The sample consisted of 166 PwMS who participated in the Stockholm MS study. Data on the use of health care services and satisfaction with care and services in PwMS were collected through a computerized register and through home visits to PwMS using structured, face-to-face interviews. Results During the study period of 3 years, 92% had been in contact with out-patient departments of Neurology, and 76% had been in contact with other hospital out-patient departments. Some 83% were in contact with primary care, and primary care contacts constituted 54% of all out-patient care. One third of the PwMS (32%) used home help service (17%) or personal assistants (19%), and higher proportions used informal help from partners (37%). PwMS were in general satisfied with the care received, with the exception of access to coordinated rehabilitation and psychosocial counseling. The proportion of PwMS using inpatient, outpatient, and social/informal (excluding neurological) care increased with the degree of disease severity. Conclusions The great majority of PwMS use hospital specialist care and primary care in parallel, with many departments and services involved. Better accessibility of certain services, for example, psychosocial counseling and rehabilitation, and other improvements, for example efforts to provide coordinated and comprehensive care for PwMS may increase satisfaction with care and should be the focus of scientific evaluation.
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| 35. |
- Guidetti, S., et al.
(författare)
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Development and evaluation of the effect and feasibility of a person-centred multidisciplinary intervention for rehabilitation after stroke
- 2018
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Ingår i: International Journal of Stroke. - : Sage Publications. - 1747-4930 .- 1747-4949. ; 13:Suppl. 3, s. 62-62
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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”.
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| 43. |
- Johansson, S, et al.
(författare)
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Participation in social/lifestyle activities in people with multiple sclerosis: Changes across 10 years and predictors of sustained participation
- 2020
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Ingår i: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1477-0970 .- 1352-4585. ; 26:13, s. 1775-1784
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Tidskriftsartikel (refereegranskat)abstract
- Identification of people with multiple sclerosis (PwMS) with increased risk of restricted participation in social and lifestyle activities (e.g. social outings and pursuing a hobby) could guide the development of interventions supporting sustained participation. Objective: To explore changes in participation in complex and social everyday activities over 10 years in PwMS in relation to multiple sclerosis (MS) severity and to identify predictors of sustained participation. Methods: This study was based on a 10-year follow-up of 264 PwMS living in Stockholm County, Sweden. Ten-year changes in participation in social/lifestyle activities were assessed and compared between PwMS with different MS severity with the Frenchay Activities Index using age- and sex-related normative values. Multiple logistic regression analyses were used to predict sustained participation at 10 years using personal factors, disease severity and functioning as independent variables. Results: While a majority of people with mild MS demonstrated sustained participation (67%), a minority of PwMS moderately (26%) and severely affected by MS (5%) demonstrated sustained participation. Significant predictors of sustained participation after 10 years were walking speed ⩾1.2 m/s and ⩾32 correct responses on the Symbol Digit Modalities Test. Conclusion: Our findings accentuate the importance for health services to support mobility and cognition to obtain sustained participation.
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| 44. |
- Johansson, S, et al.
(författare)
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Use of health services in people with multiple sclerosis with and without fatigue
- 2009
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Ingår i: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1352-4585 .- 1477-0970. ; 15:1, s. 88-95
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Tidskriftsartikel (refereegranskat)abstract
- Objective To explore and compare the use of health services in people with multiple sclerosis (MS) with and without fatigue. Methods Over a period of 30 months, the use of health services in 48 MS outpatients with persistent fatigue and 36 without fatigue was studied. Data were collected from a computerized register and by interviews, and analyzed with regard to disease severity categorized as mild or moderate/severe MS. Results Fatigued people with mild MS used more hospital outpatient care and primary care including rehabilitation, and a higher proportion had transportation service, compared with non-fatigued people with mild MS. In moderate/severe MS, the differences were that non-fatigued people used more occupational therapy in primary care and a higher proportion had salaried service. Regardless of MS severity, informal care was more common among fatigued people. Conclusions Overall, fatigued people with mild MS have more contacts with outpatient health care compared with non-fatigued people. There are few such differences in people with moderate/severe MS. The reasons for the differences in use between fatigued and non-fatigued people are not understood and need further exploration. Fatigued people more often receive informal care, thus support to caregivers are of particular importance if fatigue is present.
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