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- Davies, G., et al.
(författare)
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Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
- 2018
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci (P < 5 × 10-8) associated with general cognitive function. Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure. Gene-based analyses find 709 genes associated with general cognitive function. Expression levels across the cortex are associated with general cognitive function. Using polygenic scores, up to 4.3% of variance in general cognitive function is predicted in independent samples. We detect significant genetic overlap between general cognitive function, reaction time, and many health variables including eyesight, hypertension, and longevity. In conclusion we identify novel genetic loci and pathways contributing to the heritability of general cognitive function.
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| 2. |
- Savage, J. E., et al.
(författare)
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Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence
- 2018
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:7, s. 912-919
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Tidskriftsartikel (refereegranskat)abstract
- Intelligence is highly heritable 1 and a major determinant of human health and well-being 2 . Recent genome-wide meta-analyses have identified 24 genomic loci linked to variation in intelligence 3-7, but much about its genetic underpinnings remains to be discovered. Here, we present a large-scale genetic association study of intelligence (n = 269,867), identifying 205 associated genomic loci (190 new) and 1,016 genes (939 new) via positional mapping, expression quantitative trait locus (eQTL) mapping, chromatin interaction mapping, and gene-based association analysis. We find enrichment of genetic effects in conserved and coding regions and associations with 146 nonsynonymous exonic variants. Associated genes are strongly expressed in the brain, specifically in striatal medium spiny neurons and hippocampal pyramidal neurons. Gene set analyses implicate pathways related to nervous system development and synaptic structure. We confirm previous strong genetic correlations with multiple health-related outcomes, and Mendelian randomization analysis results suggest protective effects of intelligence for Alzheimer's disease and ADHD and bidirectional causation with pleiotropic effects for schizophrenia. These results are a major step forward in understanding the neurobiology of cognitive function as well as genetically related neurological and psychiatric disorders.
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| 3. |
- Shrestha, Sarita, 1991-, et al.
(författare)
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The use of ICD codes to identify IBD subtypes and phenotypes of the Montreal classification in the Swedish National Patient Register
- 2020
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Ingår i: Scandinavian Journal of Gastroenterology. - : Informa UK Limited. - 0036-5521 .- 1502-7708. ; 55:4, s. 430-435
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Whether data on International Classification of Diseases (ICD)-codes from the Swedish National Patient Register (NPR) correctly correspond to subtypes of inflammatory bowel disease (IBD) and phenotypes of the Montreal classification scheme among patients with prevalent disease is unknown. Materials and methods: We obtained information on IBD subtypes and phenotypes from the medical records of 1403 patients with known IBD who underwent biological treatment at ten Swedish hospitals and retrieved information on their IBD-associated diagnostic codes from the NPR. We used previously described algorithms to define IBD subtypes and phenotypes. Finally, we compared these register-generated subtypes and phenotypes with the corresponding information from the medical records and calculated positive predictive values (PPV) with 95% confidence intervals. Results: Among patients with clinically confirmed disease and diagnostic listings of IBD in the NPR (N = 1401), the PPV was 97 (96-99)% for Crohn's disease, 98 (97-100)% for ulcerative colitis, and 8 (4-11)% for IBD-unclassified. The overall accuracy for age at diagnosis was 95% (when defined as A1, A2, or A3). Examining the validity of codes representing disease phenotype, the PPV was 36 (32-40)% for colonic Crohn's disease (L2), 61 (56-65)% for non-stricturing/non-penetrating Crohn's disease behaviour (B1) and 83 (78-87)% for perianal disease. Correspondingly, the PPV was 80 (71-89)% for proctitis (E1)/left-sided colitis (E2) in ulcerative colitis. Conclusions: Among people with known IBD, the NPR is a reliable source of data to classify most subtypes of prevalent IBD, even though misclassification commonly occurred in Crohn's disease location and behaviour and also among IBD-unclassified patients.
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| 6. |
- Andersson-Gäre, Boel, et al.
(författare)
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Incidence and prevalence of juvenile chronic arthritis : a population survey
- 1987
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Ingår i: Annals of the Rheumatic Diseases. - 0003-4967 .- 1468-2060. ; 46:4, s. 277-81
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Tidskriftsartikel (refereegranskat)abstract
- In a population based epidemiological survey of juvenile chronic arthritis (JCA), performed in Western Sweden in 1983, an incidence of 12/100,000 was found. The estimated prevalence was 56/100,000. Subgroup distribution showed a preponderance of mono- and pauciarticular forms. The peak age of onset was between 0 and 4 years of age. Girls predominated over boys in a ratio of 3:2. Overall, 30% were antinuclear antibody (ANA) positive, 9% rheumatoid factor (RF) positive, and eye involvement occurred in 10% of the children. The results suggest differences in population based studies of JCA compared with previously reported hospital based series.
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| 7. |
- Eriksson, David, et al.
(författare)
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To offshore or reshore : The battle of data points
- 2018
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Ingår i: Supply Chain Management Review. - : E H Publishing, Inc.. - 1521-9747. ; 22:3, s. 42-46
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- [...]our research shows that not all offshoring decisions are based on the best methods or information. [...]a series of incorrect decisions made offshoring look like a great decision when it was not. [...]after years of outsourcing, Plant A was still the same size and unable to trim its overhead despite lower production levels. [...]one product became so expensive to produce internally that it was priced too high and failed in the market while lower-cost competitors thrive today.
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| 8. |
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| 9. |
- Gustafsson, K., et al.
(författare)
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A Multifaceted Picture Of Patient Perspectives Of Health Care And Self-Management In Hip And Knee Osteoarthritis : Abstract
- 2023
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Ingår i: Osteoarthritis and Cartilage. - : Elsevier BV. - 1063-4584 .- 1522-9653. ; 31, s. S399-S399
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Expressing a desire for surgery already before participating in first-line osteoarthritis (OA) interventions (patient education and exercise therapy) has in previous research shown to contribute to poorer outcomes from the interventions, yet we lack knowledge about patients’ views of health care and self-management of osteoarthritis (OA). This study aimed to explore and describe patients’ perspective of health care and self-management of OA among those expressing a desire for surgery before participating in first-line OA intervention.
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| 10. |
- Gustafsson, Kristin, et al.
(författare)
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Perspectives on health care and self-management of osteoarthritis among patients who desire surgery: A qualitative interview study
- 2023
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Ingår i: Physiotherapy Theory and Practice. - : Taylor & Francis. - 0959-3985 .- 1532-5040.
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Tidskriftsartikel (refereegranskat)abstract
- Background Expressing a desire for surgery before participating in first-line osteoarthritis (OA) interventions (patient education and exercise therapy) has been shown to contribute to poorer outcomes from the interventions, but we lack knowledge on how these patients reflect on health care and self-management of OA.Objectives To explore and describe patients' perspectives of health care and self-management of OA among those expressing a desire for surgery before participating in first-line OA interventions.Methods Sixteen patients with hip or knee OA referred to participate in a standardized first-line OA intervention program in primary health care in Sweden were included in the study. We used individual semi-structured interviews to collect data, which were analyzed using inductive qualitative content analysis.Results One theme of meaning "A multifaceted picture of needs, expectations, and individual choices" and five categories were identified as perspectives from the participants regarding health care and self-management of OA: 1) lacking control and needing support; 2) standing alone in an unsupportive environment; 3) going with the flow; 4) having expectations; and 5) taking ownership.Conclusion Patients who express a desire for surgery before participating in first-line interventions for OA are not a homogeneous group. They describe a broad range of perspectives on how they reason and reflect on health care and self-management of OA based on their own needs, expectations, and choices. Findings from this study strengthen insights on the importance of exploring the patient's perspectives and individualizing OA interventions to achieve the lifestyle changes that first-line interventions strive to accomplish.
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