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Sökning: WFRF:(Englund Simon)

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1.
  • Kehoe, Laura, et al. (författare)
  • Make EU trade with Brazil sustainable
  • 2019
  • Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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2.
  • Majounie, Elisa, et al. (författare)
  • Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
  • 2012
  • Ingår i: Lancet Neurology. - 1474-4465. ; 11:4, s. 323-330
  • Tidskriftsartikel (refereegranskat)abstract
    • Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Methods We screened 4448 patients diagnosed with ALS (El Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the GGGGCC hexanucleotide expansion using a repeat-primed PCR assay. We assessed familial disease status on the basis of self-reported family history of similar neurodegenerative diseases at the time of sample collection. We compared haplotype data for 262 patients carrying the expansion with the known Finnish founder risk haplotype across the chromosomal locus. We calculated age-related penetrance using the Kaplan-Meier method with data for 603 individuals with the expansion. Findings In patients with sporadic ALS, we identified the repeat expansion in 236 (7.0%) of 3377 white individuals from the USA, Europe, and Australia, two (4.1%) of 49 black individuals from the USA, and six (8.3%) of 72 Hispanic individuals from the USA. The mutation was present in 217 (39.3%) of 552 white individuals with familial MS from Europe and the USA. 59 (6.0%) of 981 white Europeans with sporadic FTD had the mutation, as did 99 (24.8%) of 400 white Europeans with familial FTD. Data for other ethnic groups were sparse, but we identified one Asian patient with familial ALS (from 20 assessed) and two with familial FTD (from three assessed) who carried the mutation. The mutation was not carried by the three Native Americans or 360 patients from Asia or the Pacific Islands with sporadic MS who were tested, or by 41 Asian patients with sporadic FTD. All patients with the repeat expansion had (partly or fully) the founder haplotype, suggesting a one-off expansion occurring about 1500 years ago. The pathogenic expansion was non-penetrant in individuals younger than 35 years, 50% penetrant by 58 years, and almost fully penetrant by 80 years. Interpretation A common Mendelian genetic lesion in C9472 is implicated in many cases of sporadic and familial ALS and FTD. Testing for this pathogenic expansion should be considered in the management and genetic counselling of patients with these fatal neurodegenerative diseases.
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3.
  • Capo, Eric, et al. (författare)
  • Lake sedimentary dna research on past terrestrial and aquatic biodiversity: Overview and recommendations
  • 2021
  • Ingår i: Quaternary. - : MDPI. - 2571-550X. ; 4:1
  • Forskningsöversikt (refereegranskat)abstract
    • The use of lake sedimentary DNA to track the long-term changes in both terrestrial and aquatic biota is a rapidly advancing field in paleoecological research. Although largely applied nowadays, knowledge gaps remain in this field and there is therefore still research to be conducted to ensure the reliability of the sedimentary DNA signal. Building on the most recent literature and seven original case studies, we synthesize the state-of-the-art analytical procedures for effective sampling, extraction, amplification, quantification and/or generation of DNA inventories from sedimentary ancient DNA (sedaDNA) via high-throughput sequencing technologies. We provide recommendations based on current knowledge and best practises.
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4.
  • Englund, Simon, et al. (författare)
  • Predictors of patient-reported fatigue symptom severity in a nationwide multiple sclerosis cohort
  • 2023
  • Ingår i: Multiple Sclerosis and Related Disorders. - : Elsevier. - 2211-0348 .- 2211-0356. ; 70
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Fatigue is a debilitating symptom of multiple sclerosis (MS), but its relation to sociodemographic and disease-related characteristics has not been investigated in larger studies. The objectives of this study were to evaluate predictors of self-reported fatigue in a Swedish nationwide register-based MS cohort.METHODS: Using a repeated cross-sectional design, we included 2,165 persons with relapsing- remitting and secondary progressive MS with one or multiple Fatigue Scale for Motor and Cognitive Functions (FSMC) scores, which was modelled using multivariable linear regressions for multiple predictors.RESULTS: Only associations to expanded disability status scale (EDSS) and Symbol Digit Modalities Test (SDMT) were considered clinically meaningful among MS-associated characteristics in our main model; compared to mild disability (EDSS 0-2.5), those with severe disability (EDSS ≥6) scored 17.6 (95% CI 13.1-22.2) FSMC points higher, while the difference was 10.7 (95% CI 8.0-13.4) points for the highest and lowest quartiles of SDMT. Differences between highest and lowest quartiles of health-related quality of life (HRQoL) instruments were even greater and considered clinically meaningful; EuroQoL Visual Analogue Scale (EQ-VAS) 31.9 (95% CI 29.9-33.8), Multiple Sclerosis Impact Scale (MSIS-29) psychological component 35.6 (95% CI 33.8-37.4) and MSIS-29 physical component 45.5 (95% CI 43.7-47.4).CONCLUSION: Higher self-reported fatigue is associated with higher disability level and worse cognitive processing speed, while associations to other MS-associated characteristics including MS type, line of disease modifying therapy (DMT), MS duration, relapse and new cerebral lesions are weak. Furthermore, we found a strong correlation between high fatigue rating and lower ratings on health-related quality of life instruments.
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5.
  • Longinetti, Elisa, et al. (författare)
  • Trajectories of cognitive processing speed and physical disability over 11 years following initiation of a first multiple sclerosis disease-modulating therapy
  • 2024
  • Ingår i: Journal of Neurology, Neurosurgery and Psychiatry. - : BMJ Publishing Group Ltd. - 0022-3050 .- 1468-330X. ; 95:2, s. 134-141
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: We analysed the COMparison Between All immunoTherapies for Multiple Sclerosis (NCT03193866), a Swedish nationwide observational study in relapsing-remitting multiple sclerosis (RRMS), to identify trajectories of processing speed and physical disability after disease-modulating therapy (DMT) start.METHODS: Using a group-modelling approach, we assessed trajectories of processing speed with oral Symbol Digit Modalities Test (SDMT) and physical disability with Expanded Disability Status Scale, from first DMT start among 1645 patients with RRMS followed during 2011-2022. We investigated predictors of trajectories using group membership as a multinomial outcome and calculated conditional probabilities linking membership across the trajectories.RESULTS: We identified 5 stable trajectories of processing speed: low SDMT scores (mean starting values=29.9; 5.4% of population), low/medium (44.3; 25.3%), medium (52.6; 37.9%), medium/high (63.1; 25.8%) and high (72.4; 5.6%). We identified 3 physical disability trajectories: no disability/stable (0.8; 26.8%), minimal disability/stable (1.6; 58.1%) and moderate disability (3.2; 15.1%), which increased to severe disability. Older patients starting interferons were more likely than younger patients starting rituximab to be on low processing speed trajectories. Older patients starting teriflunomide, with more than one comorbidity, and a history of pain treatment were more likely to belong to the moderate/severe physical disability trajectory, relative to the no disability one. There was a strong association between processing speed and physical disability trajectories.CONCLUSIONS: In this cohort of actively treated RRMS, patients' processing speed remained stable over the years following DMT start, whereas patients with moderate physical disability deteriorated in physical function. Nevertheless, there was a strong link between processing speed and disability after DMT start.
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6.
  • Magnusson, Karin, et al. (författare)
  • A prediction model for the 40-year risk of knee osteoarthritis in adolescent men
  • 2019
  • Ingår i: Arthritis care and research : the official journal of the Arthritis Health Professions Association. - : Wiley. - 2151-4658. ; 71:4, s. 558-562
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVES: To simplify the previously published Nottingham 12-year risk prediction model for knee osteoarthritis (OA) and examine whether it can be used to predict the 40-year risk of knee OA in young men.METHODS: We included 40 118 men aged 18 undergoing military conscription in Sweden 1969-70. Diagnostic OA codes were obtained from the Swedish National Patient Register 1987-2010. The original Nottingham model included predictors age, sex, body mass index (BMI), knee injury, occupational risk and family history of OA with area under receiver operating characteristics curve (AUC)=0.70, 95% CI=0.61-0.79 in the model development sample and AUC=0.60, 95% CI=0.58-0.63 in an external validation sample. We used predictors available in adolescence only (age, BMI and knee injury) and studied the discrimination of the simplified model using AUC in our sample.RESULTS: The AUC-statistic of the modified knee OA model to predict 40-year risk was 0.60 (95% CI=0.59-0.61). Hence, using the reduced model; an 18-year old man having a BMI of 30 and a knee injury would have a three times higher risk of developing knee OA within 40 years compared to a similarly aged man having a BMI of 25 and no knee injury (predicted risks 22% and 7%, respectively).CONCLUSION: The individual and population 40-year risk of knee OA is predictable in 18-year olds from a few easily measured covariates with moderate discrimination. The discrimination of this simplified model based on data available in adolescence was comparable to that of the full Nottingham model in middle age. This article is protected by copyright. All rights reserved.
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7.
  • Piehl, Fredrik, et al. (författare)
  • COMBAT-MS : A Population-Based Observational Cohort Study Addressing the Benefit-Risk Balance of Multiple Sclerosis Therapies Compared with Rituximab
  • 2024
  • Ingår i: Annals of Neurology. - : John Wiley & Sons. - 0364-5134 .- 1531-8249.
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: To assess comparative effectiveness, safety, and tolerability of off-label rituximab, compared with frequently used therapies approved for multiple sclerosis (MS).METHODS: A Swedish cohort study of persons with relapsing-remitting MS, age 18 to 75 years at inclusion and with a first therapy start or a first therapy switch between 2011 and 2018. Low-dose rituximab was compared with MS-approved therapies. Primary outcomes were proportions with 12 months confirmed disability worsening and change in MS Impact Scale-29 (MSIS-29) scores, respectively. Secondary endpoints included relapses, therapy discontinuation, and serious adverse events. Analyses used an intention-to-treat approach and were adjusted for demographics, MS features, and health characteristics.RESULTS: We included 2,449 participants as first therapy start and 2,463 as first therapy switch. Proportions with disability worsening at 3 years were 9.1% for rituximab as first therapy and 5.1% after therapy switch, with no differences to MS-approved comparators. Worsening on rituximab was mostly independent of relapses. MSIS-29 with rituximab at 3 years improved by 1.3/8.4 points (physical/psychological) for first disease-modifying therapy (DMT) and 0.4/3.6 for DMT switch, and was mostly similar across therapies. Rituximab had lower relapse rates and higher therapy persistence in both groups. The rate of hospital-treated infections was higher with rituximab after a therapy switch, but not as a first therapy.INTERPRETATION: This population-based real-world cohort study found low rates of disability progression, mostly independent of relapses, and without significant differences between rituximab and MS-approved comparators. Rituximab led to lower rates of inflammatory activity and higher treatment persistence, but was associated with an increased rate of serious infections. ANN NEUROL 2024.
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8.
  • Prieto-Alhambra, Daniel, et al. (författare)
  • Smoking and Alcohol Intake but Not Muscle Strength in Young Men Increase Fracture Risk at Middle Age : A Cohort Study Linked to the Swedish National Patient Registry
  • 2020
  • Ingår i: Journal of Bone and Mineral Research. - : Wiley. - 0884-0431 .- 1523-4681. ; 35:3, s. 498-504
  • Tidskriftsartikel (refereegranskat)abstract
    • We aimed to determine the relationship between handgrip strength, smoking, and alcohol consumption in young men and fracture risk at middle age. Thus, we carried out a cohort study including young men undergoing conscription examination in Sweden from September 1969 to May 1970 at a typical age of 18 years. Data on muscle strength, height, weight, and lifestyle factors were linked to the National Patient Register 1987–2010. Handgrip strength was considered the main exposure and smoking and alcohol consumption as secondary exposures. Outcomes were all fractures (except face, skull, digits), major osteoporotic fractures (thoracic/lumbar spine, proximal humerus, distal forearm or hip), and major traumatic fractures (shaft of humerus, forearm, femur, or lower leg) based on ICD-9 and -10 codes. We used Cox regression models to estimate hazard ratios (HR) and 95% confidence intervals (CI) according to handgrip strength as a continuous variable (per 1 SD), after adjustment for weight, height, parental education, smoking, and alcohol consumption. A total of 40,112 men were included, contributing 892,572 person-years. Overall, 3974 men fractured in middle age with the incidence rate (95% CI) of 44.5 (43.2–45.9) per 1000 person-years. The corresponding rates were12.2 and 5.6 per 1000 person-years for major osteoporotic and traumatic fractures, respectively. Handgrip strength-adjusted HR (95% CI) was 1.01 (0.98–1.05), 0.94 (0.88–1.00), and 0.98 (0.88–1.08) per SD for all, major osteoporotic, and major traumatic fractures, respectively. Adjusted HR (95% CI) for smokers (>21 cigarettes/d) was 1.44 (1.21, 1.71) for all fractures, while the association between alcohol consumption and hazards of fracture was J-shaped. Therefore, young adult handgrip strength was not associated with fracture risk in middle-age men, although smoking and high alcohol consumption did confer an increased risk.
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9.
  • Rhinard, Mark, 1973-, et al. (författare)
  • Understanding variation in national climate change adaptation : Securitization in focus
  • 2023
  • Ingår i: Environment and Planning C. - 2399-6544 .- 2399-6552.
  • Tidskriftsartikel (refereegranskat)abstract
    • Climate change is recognized today not just as a pressing and prominent issue on government agendas but also one that has been increasingly ‘securitized’ in a variety of national and global settings. We know little, however, if climate change adaptation, as a subset of climate action, has followed a similarly securitized path. This article addresses that question, exploring not only if climate change adaptation has been securitized but also what type of securitization – threat-oriented or risk-oriented – has emerged. Turning our empirical focus to three national settings of Norway, Sweden, and The Netherlands, we look for signs of securitization as well as whether securitization has been facilitated, shaped, or even blocked by existing governance features in each setting. We use this study to link the securitization literature with environmental governance approaches by building a novel analytical framework. Our findings show some intriguing and unexpected patterns, including evidence of risk-oriented securitization couched nevertheless as ‘business as usual’. We contribute to the growing debate on securitization in environmental governance while also casting new light on national climate change adaptation processes.
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10.
  • Timpka, Simon, et al. (författare)
  • Muscle strength in adolescent men and future musculoskeletal pain: a cohort study with 17 years of follow-up.
  • 2013
  • Ingår i: BMJ Open. - : BMJ. - 2044-6055. ; 3:5
  • Tidskriftsartikel (refereegranskat)abstract
    • Musculoskeletal pain is highly prevalent throughout adulthood with a major impact on health, function and participation in the society. Still, the association between muscle strength and development of musculoskeletal pain is unclear. We aimed to study whether overall muscle strength in adolescent men is inversely associated with self-reported musculoskeletal pain in adulthood.
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