| 1. |
- Stacey, Simon N, et al.
(författare)
-
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
- 2011
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:11, s. 1098-103
-
Tidskriftsartikel (refereegranskat)abstract
- To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).
|
|
| 2. |
- Andersson, M. L. E., et al.
(författare)
-
Diurnal variation in serum levels of cartilage oligomeric matrix protein in patients with knee osteoarthritis or rheumatoid arthritis
- 2006
-
Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 0003-4967 .- 1468-2060. ; 65:11, s. 1490-1494
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: To monitor changes in serum concentrations of cartilage oligomeric matrix protein (COMP) during a 24-h period to determine any diurnal variation, and to estimate the half life of COMP in the circulation in patients with symptomatic knee osteoarthritis and in those with rheumatoid arthritis. Methods: Serum samples were drawn every 4 h (7 samples/patient over 24 h) in 10 patients with knee osteoarthritis and 14 patients with rheumatoid arthritis. Osteoarthritis was defined radiographically and clinically (American College of Rheumatology (ACR) criteria) and rheumatoid arthritis according to the 1987 ACR criteria. Serum COMP was measured by sandwich ELISA. A statistical model for the diurnal variation in the COMP levels was developed using the computer program NONMEM. Results: No considerable changes in COMP levels were observed during the day between 08:00 and 21:00 in either group. A significant decrease in serum COMP was apparent during bed rest at night, reaching the lowest levels between 04:00 and 05:00 (p < 0.03 or better v all other time points) in patients with osteoarthritis and in those with rheumatoid arthritis. From the rate of decreasing serum COMP levels, a putative half life of COMP in the circulation was estimated to be 7.4 h. Conclusion: During normal daytime activities, serum COMP levels are constant. The decrease during the night indicates a rapid elimination of COMP once it has reached the circulation. The stable COMP levels during the day suggest that it is not necessary to further standardise the time of serum sampling in clinical practice.
|
|
| 3. |
- Frangou, Sophia, et al.
(författare)
-
Cortical thickness across the lifespan : Data from 17,075 healthy individuals aged 3-90 years
- 2022
-
Ingår i: Human Brain Mapping. - : John Wiley & Sons. - 1065-9471 .- 1097-0193. ; 43:1, s. 431-451
-
Tidskriftsartikel (refereegranskat)abstract
- Delineating the association of age and cortical thickness in healthy individuals is critical given the association of cortical thickness with cognition and behavior. Previous research has shown that robust estimates of the association between age and brain morphometry require large-scale studies. In response, we used cross-sectional data from 17,075 individuals aged 3-90 years from the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to infer age-related changes in cortical thickness. We used fractional polynomial (FP) regression to quantify the association between age and cortical thickness, and we computed normalized growth centiles using the parametric Lambda, Mu, and Sigma method. Interindividual variability was estimated using meta-analysis and one-way analysis of variance. For most regions, their highest cortical thickness value was observed in childhood. Age and cortical thickness showed a negative association; the slope was steeper up to the third decade of life and more gradual thereafter; notable exceptions to this general pattern were entorhinal, temporopolar, and anterior cingulate cortices. Interindividual variability was largest in temporal and frontal regions across the lifespan. Age and its FP combinations explained up to 59% variance in cortical thickness. These results may form the basis of further investigation on normative deviation in cortical thickness and its significance for behavioral and cognitive outcomes.
|
|
| 4. |
- Fritzell, Peter, et al.
(författare)
-
Cost-effectiveness of lumbar fusion and nonsurgical treatment for chronic low back pain in the Swedish lumbar spine study : A multicenter, randomized, controlled trial from the Swedish Lumbar Spine Study Group
- 2004
-
Ingår i: Spine. - : Lippincott Williams & Wilkins. - 0362-2436 .- 1528-1159. ; 29:4, s. 421-434
-
Tidskriftsartikel (refereegranskat)abstract
- Study Design. A cost-effectiveness study was performed from the societal and health care perspectives. Objective. To evaluate the costs-effectiveness of lumbar fusion for chronic low back pain (CLBP) during a 2-year follow-up. Summary of Background Data. A full economic evaluation comparing costs related to treatment effects in patients with CLBP is lacking. Patients and Methods. A total of 284 of 294 patients with CLBP for at least 2 years were randomized to either lumbar fusion or a nonsurgical control group. Costs for the health care sector ( direct costs), and costs associated with production losses ( indirect costs) were calculated. Societal total costs were identified as the sum of direct and indirect costs. Treatment effects were measured using patient global assessment of improvement, back pain ( VAS), functional disability (Owestry), and return to work. Results. The societal total cost per patient ( standard deviations) in the surgical group was significantly higher than in the nonsurgical group: Swedish kroner (SEK) 704,000 ( 254,000) vs. SEK 636,000 ( 208,000). The cost per patient for the health care sector was significantly higher for the surgical group, SEK 123,000 ( 60,100) vs. 65,200 ( 38,400) for the control group. All treatment effects were significantly better after surgery. The incremental cost-effectiveness ratio ( ICER), illustrating the extra cost per extra effect unit gained by using fusion instead of nonsurgical treatment, were for improvement: SEK 2,600 ( 600 - 5,900), for back pain: SEK 5,200 ( 1,100 - 11,500), for Oswestry: SEK 11,300 ( 1,200 - 48,000), and for return to work: SEK 4,100 ( 100 21,400). Conclusion. For both the society and the health care sectors, the 2-year costs for lumbar fusion was significantly higher compared with nonsurgical treatment but all treatment effects were significantly in favor of surgery. The probability of lumbar fusion being cost-effective increased with the value put on extra effect units gained by using surgery.
|
|
| 5. |
- Glendor, Ulf, et al.
(författare)
-
Direct and indirect costs of dental trauma in Sweden : a 2-year prospective study of children and adolescents
- 2001
-
Ingår i: Community Dentistry and Oral Epidemiology. - : Wiley. - 0301-5661. ; 29:2, s. 150-160
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To study total costs, including direct costs (health care service, loss of personal property, medicine and transport) and indirect costs (loss of production or leisure) of dental trauma to children and adolescents with special reference to predictors. METHODS: The study was based on a random sample of 192 children and adolescents with a dental trauma reported to an insurance company and prospectively followed up by telephone interviews over a period of 2 years. RESULTS: On average, health care service costs represented 2,955 SEK (SD=3,818) and total costs 4,569 SEK (SD=3,053) for dental trauma to permanent teeth, and 837 SEK (SD=898) and 1,746 SEK (SD=1,183) for trauma to primary teeth. The most extensive type of indirect cost was loss of production or leisure, which averaged 1,286 SEK (SD=1,830) for injuries to permanent teeth and 699 SEK (SD=1,239) for injuries to primary teeth. Multiple regression analysis of demographic and dental injury variables showed that complicated trauma was of special importance to costs for permanent and primary teeth injuries. The average relative increase in total costs to patients and companions for complicated injury to permanent teeth was 140% (95% confidence interval [CI], 66-248%) for patients and 132% (95% CI, 54-249%) for companions. Lack of access to a dental clinic near the place of residence could increase the average total costs of injuries to permanent teeth by 91% for companions (95% CI, 20-204%) and for primary teeth by 134% (95% CI, 38-296%). CONCLUSIONS: Dental traumas result in both direct and indirect costs, with a predominance of direct costs. The direct costs primarily depend on degree of severity, while indirect costs are mostly due to compromised access to health care service. Traumas to permanent teeth are especially costly and, due to additional maintenance, the care may continue for several years. This study has drawn attention to the significant implications of dental trauma to patient and companion, a new area where further studies are warranted.
|
|
| 6. |
- Götherström, Ulla-Christel, 1974-, et al.
(författare)
-
A comparative study of text telephone and videophone relay services
- 2004
-
Ingår i: Technology and Disability. - 1055-4181. ; 16:2, s. 101-109
-
Tidskriftsartikel (refereegranskat)abstract
- The aim of the study was to compare text telephone relay service and videophone relay service. The target group was people borne deaf. The following aspects were investigated: (1) socioeconomic costs, (2) costs of different actors, (3) qualitative aspects of the services, (4) outcomes (intermediate effects and quality of life). The study was longitudinal and measurements were made at three occasions. Data collection was made by post-mailed questionnaires. Of the 41 respondents, 16 persons had access to the text telephone relay service only and 25 persons had access to text telephone relay service supplemented with videophone relay service. The ratings of the quality of the services and the outcomes were significantly higher for videophone relay service than for text telephone relay service (at a 95%-level). The incremental cost was approximately SEK 40 000, or EUR 4 510 (1 EUR = 8.87 SEK, as of 31 December 2000) higher per person and year for the group with access to both text telephone relay service and videophone relay service compared with the group with access to text telephone relay service only.
|
|
| 7. |
- Götherström, Ulla-Christel, 1974-, et al.
(författare)
-
A socioeconomic model for evaluation of postal and telecommunication services for disabled persons
- 2004
-
Ingår i: Technology and Disability. - 1055-4181. ; 16:2, s. 91-99
-
Tidskriftsartikel (refereegranskat)abstract
- The Swedish National Post and Telecom Agency provides services in the postal and telecommunication area for disabled persons. The text telephone relay service, videophone relay service, free directory enquiries and extended rural postal service are aimed for various groups of persons with disabilities. The aim of this study was to develop a socioeconomic model for assessing such telecommunication services for disabled persons. The model development included the WHO Classification ICIDH-2 and ICF, literature review, reference panel opinions, expert opinions and pilot studies. The developed model encompasses quality of the services, costs and outcomes. The quality of the services refers to quality in structure and process. Costs for different actors are included, e.g. the user, family members, county councils, local authorities and the government. Outcomes of the services refer to intermediate outcomes (direct communicative outcomes) and generic outcomes (quality of life). The socioeconomic model is general and is applicable to different rehabilitation interventions.
|
|
| 8. |
- Hallert, Eva, et al.
(författare)
-
Rheumatoid arthritis is already expensive during the first year of the disease (the Swedish TIRA Project)
- 2004
-
Ingår i: Rheumatology. - : Oxford University Press (OUP). - 1462-0324 .- 1462-0332 .- 1460-2172. ; 43:11, s. 1374-1382
-
Tidskriftsartikel (refereegranskat)abstract
- Objective. To calculate direct and indirect costs in early rheumatoid arthritis (RA) and to characterize patients generating high and low costs respectively. Methods. Two hundred and ninety-seven patients with recent-onset (≤12 months) RA were recruited. Clinical/laboratory data and 'health assessment questionnaire' (HAQ) were registered at inclusion and after 3, 6 and 12 months. After 6 and 12 months, the patients completed a questionnaire concerning health-care utilization and days lost from work. A cut-off point for direct costs was set at 34 000 Swedish kronor (3675) defining one-third of the patients as a high-cost group and two-thirds as low-cost group. Indirect costs were calculated for patients aged <65 yr. Results. Two hundred and eleven patients completed the HAQ on both occasions. Indirect costs exceeded direct costs by a factor of 2.3. Sixty three per cent experienced work disability during the first year and were identified as the 'high-indirect-cost group'. Indirect costs accounted for >70% of total costs. Direct costs included ambulatory health care (76%), hospitalization (12%) and medication (9%). Men aged ≥65 yr had low costs compared with younger men and women of all ages. In multiple logistic regression tests, HAQ, high levels of IgM rheumatoid factor (IgM RF) and poor hand function increased the odds of entering the high-direct-cost group, and poor hand function and pain increased the odds of entering the high-indirect-cost group. Conclusions. Substantial costs were incurred during the first year after diagnosis of early RA, mainly due to work disability. Indirect costs were two to three times higher than direct costs. High levels of IgM RF, high HAQ score, poor hand function and pain increased the odds of entering high-cost groups.
|
|
| 9. |
- Hallert, Eva, 1947-, et al.
(författare)
-
Sjukdomsförlopp, kostnader och livskvalitet vid nydebuterad reumatoid artrit
- 2007
-
Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Denna rapport är framtagen i ett samarbete mellan CMT, Reumakliniken i Östergötland och Avdelningen för Reumatologi vid IKE, Hälsouniversitetet i Linköping och har finansierats med hjälp av Landstinget i Östergötland och Forskningsrådet i Sydvästra Sjukvårdsregionen (FORSS).Det övergripande syftet med TIRA-projektet (Tidiga Insatser vid Reumatoid Artrit) var att ställa diagnos tidigt och starta multiprofessionell behandling på specialistenhet. Modern handläggning av RA (ledgångsreumatism) innebär snabbt ställd diagnos, snabbt insatt potent bromsmedicin och strukturerad uppföljning. Detta arbetssätt utvecklades i TIRA-studien och har haft stor betydelse för omhändertagandet av nyinsjuknade patienter med reumatisk sjukdom. TIRA studien har också skapat ett nätverk för kunskapsutveckling inom hela sydvästra sjukvårdsregionen samt Södermanlands och Örebro län. En stor databas för forskning har skapats och arbetet har resulterat i 16 originalartiklar i vetenskapliga tidskrifter. Fem avhandlingar har hittills skrivits med utgångspunkt från TIRA-data. Data har också exporterats till det nationella Svenska RA-registret.Sedan TIRA-studien startade, har behandlingsstrategierna ändrats avsevärt. I början av 2000-talet introducerades s.k. biologiska läkemedel, framför allt TNFblockerare och 10 år efter start av TIRA-1 har nu TIRA-2 studien startat.Upplägget är i allt väsentligt detsamma och TIRA-1 kohorten kommer därvid att utgöra ett unikt referensmaterial, såväl till hälsoekonomiska data som till sjukdomsutveckling för patienter i den nya studien. Denna rapport omfattar TIRA-1 studien och redovisar sjukdomsförlopp och hälsoekonomiska konsekvenser av sjukdomen och dess behandling. Många personer har varit delaktiga i studien och vi vill främst tacka Thomas Skogh, Reumakliniken Universitetssjukhuset i Linköping och alla medarbetare på de 10 medverkande reumatologenheterna. Vi vill också tacka Jan Persson som är medarbetare i TIRA projektet och har bidragit med värdefulla synpunkter. Ett extra varmt tack riktas till alla 320 patienter som deltagit i undersökningar och noggrant fyllt i enkäter under flera år.Linköping november 2007-11-27Eva Hallert, Magnus Husberg, Andrea Schmidt, Dick Jonsson
|
|
| 10. |
|
|
