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- Davies, G., et al.
(author)
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Genetic contributions to variation in general cognitive function : a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)
- 2015
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In: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 20:2, s. 183-192
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Journal article (peer-reviewed)abstract
- General cognitive function is substantially heritable across the human life course from adolescence to old age. We investigated the genetic contribution to variation in this important, health-and well-being-related trait in middle-aged and older adults. We conducted a meta-analysis of genome-wide association studies of 31 cohorts (N = 53 949) in which the participants had undertaken multiple, diverse cognitive tests. A general cognitive function phenotype was tested for, and created in each cohort by principal component analysis. We report 13 genome-wide significant single-nucleotide polymorphism (SNP) associations in three genomic regions, 6q16.1, 14q12 and 19q13.32 (best SNP and closest gene, respectively: rs10457441, P = 3.93 x 10(-9), MIR2113; rs17522122, P = 2.55 x 10(-8), AKAP6; rs10119, P = 5.67 x 10(-9), APOE/TOMM40). We report one gene-based significant association with the HMGN1 gene located on chromosome 21 (P = 1x10(-6)). These genes have previously been associated with neuropsychiatric phenotypes. Meta-analysis results are consistent with a polygenic model of inheritance. To estimate SNP-based heritability, the genome-wide complex trait analysis procedure was applied to two large cohorts, the Atherosclerosis Risk in Communities Study (N = 6617) and the Health and Retirement Study (N = 5976). The proportion of phenotypic variation accounted for by all genotyped common SNPs was 29% (s.e. = 5%) and 28% (s.e. = 7%), respectively. Using polygenic prediction analysis, similar to 1.2% of the variance in general cognitive function was predicted in the Generation Scotland cohort (N = 5487; P = 1.5 x 10(-17)). In hypothesis-driven tests, there was significant association between general cognitive function and four genes previously associated with Alzheimer's disease: TOMM40, APOE, ABCG1 and MEF2C.
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| 4. |
- Malmberg, Gunnar, 1957-, et al.
(author)
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Longitudinal data for interdisciplinary ageing research. Design of the Linnaeus Database
- 2010
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In: Scandinavian Journal of Public Health. - : SAGE Publications. - 1403-4948 .- 1651-1905. ; 38:7, s. 761-767
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Journal article (peer-reviewed)abstract
- Rationale: To allow for interdisciplinary research on the relations between socioeconomic conditions and health in the ageing population, a new anonymized longitudinal database - the Linnaeus Database - has been developed at the Centre for Population Studies at Umea University. This paper presents the database and its research potential. Design: Using the Swedish personal numbers the researchers have, in collaboration with Statistics Sweden and the National Board for Health and Welfare, linked individual records from Swedish register data on death causes, hospitalization and various socioeconomic conditions with two databases - Betula and VIP (Vasterbottens Intervention Programme) - previously developed by the researchers at Umea University. Whereas Betula includes rich information about e. g. cognitive functions, VIP contains information about e. g. lifestyle and health indicators. Population and sample size: The Linnaeus Database includes annually updated socioeconomic information from Statistics Sweden registers for all registered residents of Sweden for the period 1990 to 2006, in total 12,066,478. The information from the Betula includes 4,500 participants from the city of Umea and VIP includes data for almost 90,000 participants. Both datasets include cross-sectional as well as longitudinal information. Potential: Due to the coverage and rich information, the Linnaeus Database allows for a variety of longitudinal studies on the relations between, for instance, socioeconomic conditions, health, lifestyle, cognition, family networks, migration and working conditions in ageing cohorts. Conclusions: By joining various datasets developed in different disciplinary traditions new possibilities for interdisciplinary research on ageing emerge.
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| 6. |
- Rubio, Carlos A., et al.
(author)
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Reliability of the reported size of removed colorectal polyps
- 2006
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In: Anticancer Research. - 0250-7005 .- 1791-7530. ; 26:6C, s. 4895-4899
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Journal article (peer-reviewed)abstract
- Background: The size of colorectal polyps is important in the clinical management of these lesions. Aim: To audit the accuracy in calculating the size of polyps by various specialists. Materials and Methods: Eighteen pathologists and four surgeons measured, with a conventional millimetre ruler, the largest diameter of 12 polyp phantoms. The results of two independent measurements (two weeks apart) were compared with the gold standard-size assessed at The Royal Institute of Technology, Sweden. Results: Thirty-one percent (83/264-trial 1) and 33% (88/264-trial 2) of the measurements underestimated or overestimated the gold standard size by > 1 mm. Of the 22 experienced participants, 95% (21/22-trial 1) and 91% (20/22-trial 2) misjudged by > 1 mm the size of one or more polyps. Values given by 13 participants (4.9%) in trial I and by 15 participants (5.7%) in trial 2, differed by ! 4 mm from the gold standard size. In addition, a big difference between the highest and the lowest values was recorded in some polyps (up to 11.4 mm). Those disparate values were regarded as a human error in reading the scale on the ruler. Conclusion: Using a conventional ruler (the tool of pathologists worldwide) unacceptably high intra-observer and inter-observer variations in assessing the size of polyp-phantoms was found. The volume and the shape of devices, as well as human error in reading the scale of the ruler were confounding factors in size assessment. In praxis, the size is crucial in the management of colorectal polyps. Considering the clinical implications of the results obtained, the possibility of developing a method that will allow assessment of the true size of removed clinical polyps is being explored.
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| 7. |
- Abelev, Betty, et al.
(author)
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Measurement of prompt J/psi and beauty hadron production cross sections at mid-rapidity in pp collisions at root s=7 TeV
- 2012
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In: Journal of High Energy Physics. - 1029-8479. ; :11
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Journal article (peer-reviewed)abstract
- The ALICE experiment at the LHC has studied J/psi production at mid-rapidity in pp collisions at root s = 7 TeV through its electron pair decay on a data sample corresponding to an integrated luminosity L-int = 5.6 nb(-1). The fraction of J/psi from the decay of long-lived beauty hadrons was determined for J/psi candidates with transverse momentum p(t) > 1,3 GeV/c and rapidity vertical bar y vertical bar < 0.9. The cross section for prompt J/psi mesons, i.e. directly produced J/psi and prompt decays of heavier charmonium states such as the psi(2S) and chi(c) resonances, is sigma(prompt J/psi) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 8.3 +/- 0.8(stat.) +/- 1.1 (syst.)(-1.4)(+1.5) (syst. pol.) mu b. The cross section for the production of b-hadrons decaying to J/psi with p(t) > 1.3 GeV/c and vertical bar y vertical bar < 0.9 is a sigma(J/psi <- hB) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 1.46 +/- 0.38 (stat.)(-0.32)(+0.26) (syst.) mu b. The results are compared to QCD model predictions. The shape of the p(t) and y distributions of b-quarks predicted by perturbative QCD model calculations are used to extrapolate the measured cross section to derive the b (b) over bar pair total cross section and d sigma/dy at mid-rapidity.
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| 8. |
- Braun, Oscar Ö., et al.
(author)
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Continuous-flow LVADs in the Nordic countries : complications and mortality and its predictors
- 2019
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In: Scandinavian Cardiovascular Journal. - : Informa UK Limited. - 1401-7431 .- 1651-2006. ; 53:1, s. 14-20
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Journal article (peer-reviewed)abstract
- Objectives: The purpose of this study was to assess complications and mortality and its predictors, with continuous-flow left ventricular assist devices (CF-LVADs) in the Nordic Countries.Design: This was a retrospective, international, multicenter cohort study.Results: Between 1993 and 2013, 442 surgically implanted long-term mechanical assist devices were used among 8 centers in the Nordic countries. Of those, 238 were CF-LVADs (HVAD or HeartMate II) implanted in patients >18 years with complete data. Postoperative complications and survival were compared and Cox proportion hazard regression analysis was used to identify predictors of mortality. The overall Kaplan-Meier survival rate was 75% at 1 year, 69% at 2 years and 63% at 3 years. A planned strategy of destination therapy had poorer survival compared to a strategy of bridge to transplantation or decision (2-year survival of 41% vs. 76%, p < .001). The most common complications were non-driveline infections (excluding sepsis) (44%), driveline infection (27%), need for continuous renal replacement therapy (25%) and right heart failure (24%). In a multivariate model age and left ventricular diastolic dimension was left as independent risk factors for mortality with a hazard ratio of 1.35 (95% confidence interval (CI) [1.01-1.80], p = .046) per 10 years and 0.88 (95% CI [0.72-0.99], p = .044) per 5 mm, respectively.Conclusion: Outcome with CF LVAD in the Nordic countries was comparable to other cohorts. Higher age and destination therapy require particularly stringent selection.
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| 9. |
- Danielsson, Henrik, et al.
(author)
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Executive functions in individuals with intellectual disability
- 2010
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In: Research in Developmental Disabilities. - : Elsevier BV. - 0891-4222 .- 1873-3379. ; 31:6, s. 1299-1304
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Journal article (peer-reviewed)abstract
- The aim of the present study was to investigate executive functions in adults with intellectual disability, and compare them to a closely matched control group longitudinally for 5 years. In the Betula database, a group of adults with intellectual disability (ID, n = 46) was defined from measures of verbal and non-verbal IQ. A control group, with two people for every person with intellectual disability (n = 92), was chosen by matching on the following criterion in order of priority: IQ higher than 85, age, sex, sample, level of education, and years of education. Three types of tasks of executive functions were included on two occasions, with 5 years between testing sessions: The Tower of Hanoi,. executively loaded dual task versions of word recall, and verbal fluency. Adults with ID showed significant impairments on verbal fluency and on the executively loaded dual task word recall task (at encoding but not at recall). There were no group differences on the Tower of Hanoi. No significant differences between the two test occasions were found. The results are interpreted in terms of individuals with ID having problems with speed of accessing lexical items and difficulties with working memory-related executive control at encoding, which includes shifting between tasks. There are, however, not necessarily problems with inhibition. The dual task results additionally imply that the adults with intellectual disability were more sensitive to strategy interruptions at encoding, but that dividing attention at recall did not have such detrimental effects.
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| 10. |
- Ekström, Simon, et al.
(author)
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Polymeric integrated selective enrichment target (ISET) for solid-phase-based sample preparation in MALDI-TOF MS
- 2007
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In: Journal of Mass Spectrometry. - : Wiley. - 1076-5174 .- 1096-9888. ; 42:11, s. 1445-1452
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Journal article (peer-reviewed)abstract
- d A polymer microfabricated proteomic sample preparation and MALDI MS sample presentation device, the integrated selective enrichment target (ISET), comprising an array of perforated nanovials is reported. Each perforated nanovial can be filled with selective extraction media (microbeads) for purification and concentration of protein/peptides prior to matrix-assisted laser desorption/ionization mass spectrometry (MALDI MS). The main areas covered are the influence of the molding-process-induced surface roughness and how to address the lack of inherent conductivity in the polyetheretherketone (PEEK) material for optimal MALDI MS readout. Application of the disposable polymeric ISET devices for solid-phase extraction and phosphopeptide capture is also demonstrated.
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