| 1. |
- Ericsson, Olle, et al.
(författare)
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Clinical validation of a novel automated cell-free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma.
- 2019
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Ingår i: Prenatal diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 39:11, s. 1011-1015
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Tidskriftsartikel (refereegranskat)abstract
- To evaluate clinical performance of a new automated cell-free (cf)DNA assay in maternal plasma screening for trisomies 21, 18, and 13, and to determine fetal sex.Maternal plasma samples from 1200 singleton pregnancies were analyzed with a new non-sequencing cfDNA method, which is based on imaging and counting specific chromosome targets. Reference outcomes were determined by either cytogenetic testing, of amniotic fluid or chorionic villi, or clinical examination of neonates.The samples examined included 158 fetal aneuploidies. Sensitivity was 100% (112/112) for trisomy 21, 89% (32/36) for trisomy 18, and 100% (10/10) for trisomy 13. The respective specificities were 100%, 99.5%, and 99.9%. There were five first pass failures (0.4%), all in unaffected pregnancies. Sex classification was performed on 979 of the samples and 99.6% (975/979) provided a concordant result.The new automated cfDNA assay has high sensitivity and specificity for trisomies 21, 18, and 13 and accurate classification of fetal sex, while maintaining a low failure rate. The study demonstrated that cfDNA testing can be simplified and automated to reduce cost and thereby enabling wider population-based screening.
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| 4. |
- Bokenberger, Kathleen, et al.
(författare)
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Association between sleep characteristics and incident dementia accounting for baseline cognitive status : A prospective population-based study
- 2017
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Ingår i: The journals of gerontology. Series A, Biological sciences and medical sciences. - : Oxford University Press. - 1079-5006 .- 1758-535X. ; 72:1, s. 134-139
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Tidskriftsartikel (refereegranskat)abstract
- Background: While research has shown that sleep disorders are prevalent among people with dementia, the temporal relationship is unclear. We investigated whether atypical sleep characteristics were associated with incident dementia while accounting for baseline cognitive functioning.Methods: Screening Across the Lifespan Twin Study (SALT) participants were 11,247 individuals from the Swedish Twin Registry who were at least 65 years at baseline (1998-2002). Sleep and baseline cognitive functioning were assessed via the SALT telephone screening interview. Data on dementia diagnoses came from national health registers. Cox regression was performed to estimate hazard ratios (HR) for dementia.Results: After 17 years of follow-up, 1,850 dementia cases were identified. Short (≤ 6 hours) and extended (> 9 hours) time-in-bed (TIB) compared to the middle reference group (HR=1.40, 95% CI=1.06-1.85, HR=1.11, 95% CI=1.00-1.24, respectively) and rising at 8:00AM or later compared to earlier rising (HR=1.12, 95% CI=1.01-1.24) were associated with higher dementia incidence. Bedtime, sleep quality, restorative sleep, and heavy snoring were not significant predictors. Findings stratified by baseline cognitive status indicated that the association between short TIB and dementia remained in those cognitively intact at the start.Conclusions: Short and extended TIB as well as delayed rising among older adults predicted increased dementia incidence in the following 17 years. The pattern of findings suggests that extended TIB and late rising represent prodromal features whereas short TIB appeared to be a risk factor for dementia.
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| 5. |
- Ericsson, Malin, et al.
(författare)
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Life-course socioeconomic differences and social mobility in preventable and non-preventable mortality : a study of Swedish twins
- 2019
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Ingår i: International Journal of Epidemiology. - : Oxford University Press. - 0300-5771 .- 1464-3685. ; 48:5, s. 1701-1709
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundDespite advances in life expectancy, low socioeconomic status is associated with a shorter lifespan. This study was conducted to investigate socioeconomic differences in mortality by comparing preventable with non-preventable causes of death in 39 506 participants from the Swedish Twin Registry born before 1935.MethodsChildhood social class, own education, own social class and social mobility were used as separate indicators of socioeconomic status. These data were linked to the Swedish Cause of Death Register. Cause of death was categorized as preventable or non-preventable mortality according to indicators presented in the Avoidable Mortality in the European Union (AMIEHS) atlas. Using Cox proportional hazard models, we tested the association between the socioeconomic measures and all-cause mortality, preventable mortality and non-preventable mortality. Additional co-twin control analyses indicated whether the associations reflected genetic confounding.ResultsThe social gradient for mortality was most prominent for the adult socioeconomic measures. There was a social gradient in both preventable mortality and non-preventable mortality, but with an indication of a moderately stronger effect in preventable causes of death. In analyses of social mobility, those who experienced life-time low socioeconomic status (SES) or downward social mobility had an increased mortality risk compared with those with life-time high SES and upward social mobility. Adjustments for genetic confounding did not change the observed associations for education, social class or social mobility and mortality. In the co-twin control analyses of reared-apart twins, the association between childhood social class and mortality weakened, indicating possible genetic influences on this association.ConclusionsOur results indicate that there is an association between low adult socioeconomic status and increased mortality independent of genetic endowment. Thus, we do not find support for indirect social selection as the basis for mortality inequalities in Sweden
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| 6. |
- Finnes, Anna, et al.
(författare)
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Cost-Effectiveness of Acceptance and Commitment Therapy and a Workplace Intervention for Employees on Sickness Absence due to Mental Disorders.
- 2017
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Ingår i: Journal of Occupational and Environmental Medicine. - 1076-2752 .- 1536-5948. ; 59:12, s. 1211-1220
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The aim of this study was to evaluate cost-effectiveness of Acceptance and Commitment Therapy (ACT) and workplace dialogue intervention (WDI), both as stand-alone interventions and in combination, compared with treatment as usual (TAU), for employees on sickness absence with mental disorders.METHODS: Employees (n = 352, 78.4% females) on sickness absence were randomized to one of four groups. Cost-utility analyses were conducted from a health care perspective and a limited societal perspective.RESULTS: All groups reported significant improvements in health-related quality-of-life (HRQoL) and there were no significant differences in HRQoL or costs between groups. The probability of cost-effectiveness for ACT+WDI was 50% compared with ACT, indicating that both treatment alternatives could be considered equally favorable for decision-makers. TAU and WDI were rejected due to less economic efficiency.CONCLUSION: Adding WDI to ACT cannot be recommended on the basis of our study results.
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| 7. |
- Finnes, Anna, et al.
(författare)
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Psychological treatments for return to work in individuals on sickness absence due to common mental disorders or musculoskeletal disorders : a systematic review and meta-analysis of randomized-controlled trials
- 2019
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Ingår i: International Archives of Occupational and Environmental Health. - : Springer Science and Business Media LLC. - 0340-0131 .- 1432-1246. ; 92:3, s. 273-293
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Forskningsöversikt (refereegranskat)abstract
- Purpose: Common mental disorders (CMDs) and musculoskeletal disorders are highly prevalent in the population and cause significant distress and disability, and high costs to society. The main objective of this systematic review and meta-analysis was to examine the outcome and comparative effectiveness of psychological interventions in reducing sickness absence (SA) due to CMDs or musculoskeletal disorders, compared to a waitlist control group, usual care or another clinical intervention.Methods: We reviewed 3515 abstracts of randomized controlled trials published from 1998 to 2017. Of these, 30 studies were included in the analysis.Results: The psychological interventions were overall more effective than treatment as usual in reducing SA (small effect sizes), but not compared to other clinical interventions. Results were similar for studies on CMDs and musculoskeletal pain. A few significant moderating effects were found for treatment-specific variables. However, these were difficult to interpret as they pointed in different directions.Conclusion: There was a small but significant effect of psychological treatments in reducing SA. We identified areas of improvement such as methodological problems among the included studies and failure to specifically address RTW in the interventions that were evaluated. Clinical implications of the findings, and ways of improving methodological rigour of future studies are discussed.
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| 8. |
- Finnes, Anna, et al.
(författare)
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Randomized Controlled Trial of Acceptance and Commitment Therapy and a Workplace Intervention for Sickness Absence Due to Mental Disorders.
- 2019
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Ingår i: Journal of Occupational Health Psychology. - : Educational Publishing Foundation. - 1076-8998 .- 1939-1307. ; 24:1, s. 198-212
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Tidskriftsartikel (refereegranskat)abstract
- Mental disorders contribute to high rates of sickness absence (SA) and impaired work functioning. The aim of the present study was to evaluate the efficacy of 3 interventions targeting SA of workers. Participants (n = 352; 78.4% females) of working age with current employment, and SA due to depression, anxiety disorders, or exhaustion disorder, were recruited to the study and randomized to (a) acceptance and commitment therapy (ACT), (b) a workplace dialogue intervention (WDI), (c) a combination of ACT and WDI, or (d) treatment as usual (TAU). For SA days, there was a significant interaction effect for the follow-up period, in which ACT + WDI generated more SA compared with TAU. When diagnostic group was included as a moderator, participants with exhaustion disorder had less SA days in the WDI group compared with TAU. For symptoms of depression, anxiety, and stress-related ill health, there were significant interaction effects for ACT and ACT + WDI, when compared with TAU, from pre- to postmeasurement (small to moderate between-groups effect sizes). Within-group effect sizes pre- to postmeasurement (Cohen’s d) ranged from .55 to 1.17 (ACT), .40 to .94 (WDI), .26 to 1.13 (ACT + WI), and −.06 to .70 (TAU). There were no differences between groups during follow-up for symptoms.
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| 9. |
- Holmberg, Anna, et al.
(författare)
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75% success rate after open debridement, exchange of tibial insert, and antibiotics in knee prosthetic joint infections.
- 2015
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Ingår i: Acta Orthopaedica. - : Medical Journals Sweden AB. - 1745-3682 .- 1745-3674. ; 86:4, s. 457-462
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Tidskriftsartikel (refereegranskat)abstract
- Background and purpose - Prosthetic joint infection (PJI) is a leading cause of early revision after total knee arthroplasty (TKA). Open debridement with exchange of tibial insert allows treatment of infection with retention of fixed components. We investigated the success rate of this procedure in the treatment of knee PJIs in a nationwide material, and determined whether the results were affected by microbiology, antibiotic treatment, or timing of debridement. Patients and methods - 145 primary TKAs revised for the first time, due to infection, with debridement and exchange of the tibial insert were identified in the Swedish Knee Arthroplasty Register (SKAR). Staphylococcus aureus was the most common pathogen (37%) followed by coagulase-negative staphylococci (CNS) (23%). Failure was defined as death before the end of antibiotic treatment, revision of major components due to infection, life-long antibiotic treatment, or chronic infection. Results - The overall healing rate was 75%. The type of infecting pathogen did not statistically significantly affect outcome. Staphylococcal infections treated without a combination of antibiotics including rifampin had a higher failure rate than those treated with rifampin (RR = 4, 95% CI: 2-10). In the 16 cases with more than 3 weeks of symptoms before treatment, the healing rate was 62%, as compared to 77% in the other cases (p = 0.2). The few patients with a revision model of prosthesis at primary operation had a high failure rate (5 of 8). Interpretation - Good results can be achieved by open debridement with exchange of tibial insert. It is important to use an antibiotic combination including rifampin in staphylococcal infections.
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| 10. |
- Kvarnung, Malin, et al.
(författare)
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Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
- 2019
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Ingår i: Frontiers in Genetics. - : Frontiers Media SA. - 1664-8021. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- The etiology of hereditary ataxia syndromes is heterogeneous, and the mechanisms underlying these disorders are often unknown. Here, we utilized exome sequencing in two siblings with progressive ataxia and muscular weakness and identified a novel homozygous splice mutation (c.3020-1G > A) in neurofascin (NFASC). In RNA extracted from fibroblasts, we showed that the mutation resulted in inframe skipping of exon 26, with a deprived expression of the full-length transcript that corresponds to NFASC isoform NF186. To further investigate the disease mechanisms, we reprogrammed fibroblasts from one affected sibling to induced pluripotent stem cells, directed them to neuroepithelial stem cells and finally differentiated to neurons. In early neurogenesis, differentiating cells with selective depletion of the NF186 isoform showed significantly reduced neurite outgrowth as well as fewer emerging neurites. Furthermore, whole-cell patch-clamp recordings of patient-derived neuronal cells revealed a lower threshold for openings, indicating altered Na+ channel kinetics, suggesting a lower threshold for openings as compared to neuronal cells without the NFASC mutation. Taken together, our results suggest that loss of the full-length NFASC isoform NF186 causes perturbed neurogenesis and impaired neuronal biophysical properties resulting in a novel early-onset autosomal recessive ataxia syndrome.
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