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1.
  • Abolfathi, Bela, et al. (author)
  • The Fourteenth Data Release of the Sloan Digital Sky Survey : First Spectroscopic Data from the Extended Baryon Oscillation Spectroscopic Survey and from the Second Phase of the Apache Point Observatory Galactic Evolution Experiment
  • 2018
  • In: Astrophysical Journal Supplement Series. - : IOP Publishing Ltd. - 0067-0049 .- 1538-4365. ; 235:2
  • Journal article (peer-reviewed)abstract
    • The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) has been in operation since 2014 July. This paper describes the second data release from this phase, and the 14th from SDSS overall (making this Data Release Fourteen or DR14). This release makes the data taken by SDSS-IV in its first two years of operation (2014-2016 July) public. Like all previous SDSS releases, DR14 is cumulative, including the most recent reductions and calibrations of all data taken by SDSS since the first phase began operations in 2000. New in DR14 is the first public release of data from the extended Baryon Oscillation Spectroscopic Survey; the first data from the second phase of the Apache Point Observatory (APO) Galactic Evolution Experiment (APOGEE-2), including stellar parameter estimates from an innovative data-driven machine-learning algorithm known as "The Cannon"; and almost twice as many data cubes from the Mapping Nearby Galaxies at APO (MaNGA) survey as were in the previous release (N = 2812 in total). This paper describes the location and format of the publicly available data from the SDSS-IV surveys. We provide references to the important technical papers describing how these data have been taken (both targeting and observation details) and processed for scientific use. The SDSS web site (www.sdss.org) has been updated for this release and provides links to data downloads, as well as tutorials and examples of data use. SDSS-IV is planning to continue to collect astronomical data until 2020 and will be followed by SDSS-V.
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  • Aguado, D. S., et al. (author)
  • The Fifteenth Data Release of the Sloan Digital Sky Surveys : First Release of MaNGA-derived Quantities, Data Visualization Tools, and Stellar Library
  • 2019
  • In: Astrophysical Journal Supplement Series. - : Institute of Physics Publishing (IOPP). - 0067-0049 .- 1538-4365. ; 240:2
  • Journal article (peer-reviewed)abstract
    • Twenty years have passed since first light for the Sloan Digital Sky Survey (SDSS). Here, we release data taken by the fourth phase of SDSS (SDSS-IV) across its first three years of operation (2014 July-2017 July). This is the third data release for SDSS-IV, and the 15th from SDSS (Data Release Fifteen; DR15). New data come from MaNGA-we release 4824 data cubes, as well as the first stellar spectra in the MaNGA Stellar Library (MaStar), the first set of survey-supported analysis products (e.g., stellar and gas kinematics, emission-line and other maps) from the MaNGA Data Analysis Pipeline, and a new data visualization and access tool we call "Marvin." The next data release, DR16, will include new data from both APOGEE-2 and eBOSS; those surveys release no new data here, but we document updates and corrections to their data processing pipelines. The release is cumulative; it also includes the most recent reductions and calibrations of all data taken by SDSS since first light. In this paper, we describe the location and format of the data and tools and cite technical references describing how it was obtained and processed. The SDSS website (www.sdss.org) has also been updated, providing links to data downloads, tutorials, and examples of data use. Although SDSS-IV will continue to collect astronomical data until 2020, and will be followed by SDSS-V (2020-2025), we end this paper by describing plans to ensure the sustainability of the SDSS data archive for many years beyond the collection of data.
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  • Arwehed, Sofia, et al. (author)
  • Nordic survey showed wide variation in discharge practices for very preterm infants
  • 2023
  • In: Acta Paediatrica. - : John Wiley & Sons. - 0803-5253 .- 1651-2227.
  • Journal article (peer-reviewed)abstract
    • AimWe aimed to describe clinical practices and criteria for discharge of very preterm infants in Nordic neonatal units.MethodsMedical directors of all 89 level-2 and level-3 units in Denmark, Finland, Iceland, Norway and Sweden were invited by e-mail to complete a web-based multiple-choice survey with the option to make additional free-text comments.ResultsWe received responses from 83/89 units (93%). In all responding units, discharge readiness was based mainly on clinical assessment with varying criteria. In addition, 36% used formal tests of cardiorespiratory stability and 59% used criteria related to infant weight or growth. For discharge with feeding tube, parental ability to speak the national language or English was mandatory in 45% of units, with large variation among countries. Post-discharge home visits and video-consultations were provided by 59% and 51%, respectively. In 54% of units, parental preparation for discharge were not initiated until the last two weeks of hospital stay.ConclusionDischarge readiness was based mainly on clinical assessment, with criteria varying among units despite similar population characteristics and care structures. This variation indicates a lack of evidence base and may unnecessarily delay discharge; further studies of this matter are needed. Earlier parental preparation and use of interpreters might facilitate earlier discharge.
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  • Beets-Tan, Regina G. H., et al. (author)
  • Magnetic resonance imaging for the clinical management of rectal cancer patients : recommendations from the 2012 European Society of Gastrointestinal and Abdominal Radiology (ESGAR) consensus meeting
  • 2013
  • In: European Radiology. - : Springer Science and Business Media LLC. - 0938-7994 .- 1432-1084. ; 23:9, s. 2522-2531
  • Journal article (peer-reviewed)abstract
    • To develop guidelines describing a standardised approach regarding the acquisition, interpretation and reporting of magnetic resonance imaging (MRI) for clinical staging and restaging of rectal cancer. A consensus meeting of 14 abdominal imaging experts from the European Society of Gastrointestinal and Abdominal Radiology (ESGAR) was conducted following the RAND-UCLA Appropriateness Method. Two independent (non-voting) chairs facilitated the meeting. Two hundred and thirty-six items were scored by participants for appropriateness and classified subsequently as appropriate or inappropriate (defined by a parts per thousand yen 80 % consensus) or uncertain (defined by < 80 % consensus). Items not reaching 80 % consensus were noted. Consensus was reached for 88 % of items: recommendations regarding hardware, patient preparation, imaging sequences, angulation, criteria for MRI assessment and MRI reporting were constructed from these. These expert consensus recommendations can be used as clinical guidelines for primary staging and restaging of rectal cancer using MRI. These guidelines recommend standardised imaging for staging and restaging of rectal cancer. The guidelines were constructed through consensus amongst 14 abdominal imaging experts. Consensus was reached by in 88 % of 236 items discussed.
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  • Couch, Fergus J., et al. (author)
  • Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
  • 2016
  • In: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 7:11375, s. 1-13
  • Journal article (peer-reviewed)abstract
    • Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
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7.
  • Dillner, Joakim, et al. (author)
  • Antibodies to SARS-CoV-2 and risk of past or future sick leave
  • 2021
  • In: Scientific Reports. - : Springer Nature. - 2045-2322. ; 11:1
  • Journal article (peer-reviewed)abstract
    • The extent that antibodies to SARS-CoV-2 may protect against future virus-associated disease is unknown. We invited all employees (n=15,300) at work at the Karolinska University Hospital, Stockholm, Sweden to participate in a study examining SARS-Cov-2 antibodies in relation to registered sick leave. For consenting 12,928 healthy hospital employees antibodies to SARS-CoV-2 could be determined and compared to participant sick leave records. Subjects with viral serum antibodies were not at excess risk for future sick leave (adjusted odds ratio (OR) controlling for age and sex: 0.85 [95% confidence interval (CI) (0.85 (0.43-1.68)]. By contrast, subjects with antibodies had an excess risk for sick leave in the weeks prior to testing [adjusted OR in multivariate analysis: 3.34 (2.98-3.74)]. Thus, presence of viral antibodies marks past disease and protection against excess risk of future disease. Knowledge of whether exposed subjects have had disease in the past or are at risk for future disease is essential for planning of control measures.Trial registration: First registered on 02/06/20, ClinicalTrials.gov NCT04411576.
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  • Herbertsson, Lina, et al. (author)
  • Long-term data shows increasing dominance of Bombus terrestris with climate warming
  • 2021
  • In: Basic and Applied Ecology. - : Elsevier BV. - 1439-1791. ; 53, s. 116-123
  • Journal article (peer-reviewed)abstract
    • While many bumblebee species decline due to climate and land-use changes, others cope well with contemporary conditions. One example is Bombus terrestris, which is common in intensively managed agricultural landscapes. During the 20th century its subgenus, which includes the B. lucorum complex (B. lucorum, B. cryptarum and B. magnus) came to dominate Scandinavian bumblebee communities, but the specific contribution of B. terrestris remains to be understood. Using historical data on males, we assessed how the relative abundances of B. terrestris and the B. lucorum complex changed over the past 150 years in southernmost Sweden. We tested if these changes differed between simplified and mixed landscapes and whether the relative abundance of B. terrestris was related to annual mean temperatures. Because floral availability has advanced as a response to climate change, we also tested if the activity period of males (estimated as catching date) has advanced and whether the advancement differs between taxa. The relative abundance of B. terrestris increased similarly in both landscapes, from 21% to 79% over the period, and this was largely explained by increasing temperature. Male activity period has advanced similarly in the two taxa, with 41 days between 1900 and 2015. Although the dominance of B. terrestris correlates clearly with annual mean temperature, it remains to disentangle why. It also remains to understand whether the success of B. terrestris occurs at the expense of other species or simply reflects that this species copes better with contemporary conditions.
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12.
  • Jin, Shoko, et al. (author)
  • The wide-field, multiplexed, spectroscopic facility WEAVE : Survey design, overview, and simulated implementation
  • 2024
  • In: Monthly notices of the Royal Astronomical Society. - : Oxford University Press. - 0035-8711 .- 1365-2966. ; 530:3, s. 2688-2730
  • Journal article (peer-reviewed)abstract
    • WEAVE, the new wide-field, massively multiplexed spectroscopic survey facility for the William Herschel Telescope, saw first light in late 2022. WEAVE comprises a new 2-deg field-of-view prime-focus corrector system, a nearly 1000-multiplex fibre positioner, 20 individually deployable 'mini' integral field units (IFUs), and a single large IFU. These fibre systems feed a dual-beam spectrograph covering the wavelength range 366-959nm at R similar to 5000, or two shorter ranges at . After summarizing the design and implementation of WEAVE and its data systems, we present the organization, science drivers, and design of a five- to seven-year programme of eight individual surveys to: (i) study our Galaxy's origins by completing Gaia's phase-space information, providing metallicities to its limiting magnitude for similar to 3 million stars and detailed abundances for similar to 1.5 million brighter field and open-cluster stars; (ii) survey similar to 0.4 million Galactic-plane OBA stars, young stellar objects, and nearby gas to understand the evolution of young stars and their environments; (iii) perform an extensive spectral survey of white dwarfs; (iv) survey similar to 400 neutral-hydrogen-selected galaxies with the IFUs; (v) study properties and kinematics of stellar populations and ionized gas in z < 0.5 cluster galaxies; (vi) survey stellar populations and kinematics in field galaxies at 0.3 less than or similar to z less than or similar to 0.7; (vii) study the cosmic evolution of accretion and star formation using >1 million spectra of LOFAR-selected radio sources; and (viii) trace structures using intergalactic/circumgalactic gas at z > 2. Finally, we describe the WEAVE Operational Rehearsals using the WEAVE Simulator.
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  • Kiiski, Johanna I., et al. (author)
  • FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population
  • 2017
  • In: Breast Cancer Research and Treatment. - : Springer Science and Business Media LLC. - 0167-6806 .- 1573-7217. ; 166:1, s. 217-226
  • Journal article (peer-reviewed)abstract
    • Purpose: The FANCM c.5101C>T nonsense mutation was previously found to associate with breast cancer in the Finnish population, especially among triple-negative cases. Here, we studied the prevalence of three other FANCM variants: c.5791C>T, which has been reported to predispose to familial breast cancer, and the c.4025_4026delCT and c.5293dupA variants recently identified in Finnish cancer patients. Methods: We genotyped the FANCM c.5791C>T mutation in 4806 invasive breast cancer patients, including BRCA1/2 mutation negative familial cases and unselected cases, and in 2734 healthy population controls from four different geographical areas of Finland. The association of the mutation with breast cancer risk among patient subgroups was statistically evaluated. We further analyzed the combined risk associated with c.5101C>T and c.5791C>T mutations. We also genotyped 526 unselected ovarian cancer patients for the c.5791C>T mutation and 862 familial breast cancer patients for the c.4025_4026delCT and c.5293dupA variants. Results: The frequency of the FANCM c.5791C>T mutation was higher among breast cancer cases than in controls (OR 1.94, 95% CI 0.87–4.32, P = 0.11), with a statistically significant association with triple-negative breast cancer (OR 5.14, 95% CI 1.65–16.0, P = 0.005). The combined analysis for c.5101C>T and c.5791C>T carriers confirmed a strong association with breast cancer (OR 1.86, 95% CI 1.32–2.49, P = 0.0002), especially among the triple-negative patients (OR 3.08, 95% CI 1.77–5.35, P = 0.00007). For the other variants, only one additional c.4025_4026delCT carrier and no c.5293dupA carriers were observed. Conclusions: These results support the role of FANCM as a breast cancer susceptibility gene, particularly for triple-negative breast cancer.
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  • Lawrenson, Kate, et al. (author)
  • Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
  • 2016
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
  • Journal article (peer-reviewed)abstract
    • A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
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  • Mehlig, Kirsten, 1964, et al. (author)
  • Secular trends in diet-related greenhouse gas emission estimates since 2000 - a shift towards sustainable diets in Sweden
  • 2021
  • In: Public Health Nutrition. - : Cambridge University Press. - 1368-9800 .- 1475-2727. ; 24:12, s. 3916-
  • Journal article (peer-reviewed)abstract
    • Objective: This study examines secular changes in diet-related greenhouse gas emissions (GHGE) in younger and older Swedish adults, since the turn of this century. Setting: The municipality of Gothenburg, in western Sweden. Design: Two cross-sectional health examination surveys were conducted in 2001-04 (T1) and 2014-18 (T2). At both times, an 86-item food frequency questionnaire was embedded in the survey. From the food frequencies and age-standardized portion sizes, GHGE estimates (kg CO2e/year) were calculated. GHGE was modeled as a function of time period and covariates, for five distinct age groups. Participants: Women and men aged 25-34, 35-44, 45-54, 55-64 and 65-75 were randomly selected from the population registry and recruited for examinations. After exclusion of participants with incomplete dietary data, the analytic sample consisted of 2569 individuals at T1 and 2119 at T2. Results: Lower dietary GHGE scores were observed at T2 compared to T1, in each age group, adjusting for sex, body mass index, and education. The largest differences in GHGE were observed in the youngest age group (circa 30% reduction). Decreasing trends in GHGE from animal-based foods were observed at all ages and were accompanied by smaller increases from plant-based sources in younger groups only. At all ages, GHGE from discretionary foods decreased, and prevalence of overweight remained stable. Conclusions: Optimal dietary trends should support both human health and planetary health. Our results suggest that Swedish adults have moved in this direction, e.g. through less intake of red meat products and stable weight status.
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  • Murhem, Sofia, et al. (author)
  • Globalisering och fackligt samarbete inom svensk metallindustri
  • 2003
  • In: Fackliga strategier för att möta globalisering och regionalisering inom metallindustrin. En jämförande studie av fyra nordiska länder.. - : Stockholm: Arbetslivsinstitutet.
  • Book chapter (other academic/artistic)abstract
    • Http://www.dalarna.se/upload/Webhotell/Framsyn/Tillvaxt_Magnusson.pdf
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  • Murhem, Sofia, 1969-, et al. (author)
  • Inledning
  • 2003
  • In: Fackliga strategier för att möta globalisering och regionalisering inom metallindustrin. En jämförande studie av fyra nordiska länder. - : Arbetslivsinstitutet, Stockholm.
  • Book chapter (other academic/artistic)
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  • Nyström Sandman, Antonia, 1973-, et al. (author)
  • Scale-dependent influence of environmental factors on species distribution : a case study on five benthic species in the Baltic Sea
  • Other publication (other academic/artistic)abstract
    • Statistical modelling can be used to relate biological survey data to environmental factors, thereby providing a basis for predictive mapping of species or communities. However, there has been little discussion about the effect of scale on the predictive power of the variables used for species prediction. In this study, we analysed if the relative importance of environmental factors for the distribution of aquatic species was scale dependent, using data on the cover of five common benthic species (four macrophytes and one animal), from 1731 sites along the Swedish Baltic Sea coast. We modelled the cover and distribution of the five species in relation to salinity, depth, slope, wave exposure and substrate in scale steps from 25 to 1500 km, and analysed the relative contribution of the environmental variables to each species model. The average total deviance explained by the models was generally quite high, and decreased with increasing scale for all macrophyte species, while it increased for the animal, the Baltic Sea blue mussel, Mytilus edulis. The average contribution of salinity increased for all species when moving from local to Baltic Sea scale, and for the Baltic Sea blue mussel it was the single most important factor at the Baltic Sea scale. The average contribution of depth decreased with increasing scale for all species. However, regardless of scale, depth was the most important environmental factor to explain the distribution of all but one of the investigated macrophyte species. The relative contribution of different environmental variables changed with scale, and responses also differed between species. Factors measured on a fine scale, and thus describing local conditions were more influential at the local scale, whereas the large scale salinity gradient increased in importance with scale.
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  • Palmér, Sofia, 1987-, et al. (author)
  • Validation of primary and outcome data quality in a Swedish population-based breast cancer quality registry
  • 2024
  • In: BMC Cancer. - : BioMed Central (BMC). - 1471-2407. ; 24:1
  • Journal article (peer-reviewed)abstract
    • Background: Population-based cancer quality registries are of great importance for the improvement of cancer care. However, little is known about the quality of recurrence data in cancer quality registries. The aim of this study was to evaluate data quality in the regional Breast Cancer Quality Registry of Central Sweden, with emphasis on the validity of recorded information on recurrence.Methods: Validation by re-abstraction was performed on a random sample of 800 women with primary invasive breast cancer stage I-III diagnosed between 1993 and 2010, of which 400 had at least one registered recurrence and 400 had no registered recurrence. Registry data were compared with data from medical records. Exact agreement, correlation and kappa values, sensitivity and specificity were calculated.Results: Seven hundred forty-seven women (93%) were available for analysis. Exact agreement was high for diagnostics, tumor characteristics, surgery, and adjuvant oncological treatment (90% or more for most variables). The registry’s sensitivity was low for regional recurrence (47%), but higher for local and distant recurrence (80% and 75%) ,whereas specificity was overall high (≥ 95%). Combining all recurrence categories irrespective of localization improved sensitivity to 90% with a specificity of 91%. In 87% of women, the date of first recurrence according to medical records fell within ± 90 days of the date recorded in the registry.Conclusions: While the quality of data in the regional Breast Cancer Quality Registry was generally high, data accuracy on recurrences was lower. The overall precision of identifying any recurrence, irrespective of localization, was high. However, the accuracy of classification of recurrences (local, regional or distant) was lower, with evidence of underreporting for each of the recurrence categories. Given the importance of recurrence-related outcomes in the assessment of quality of care, efforts should be made to improve the reporting of recurrences.
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  • Sylvan, Siri, 1989- (author)
  • Toward a New Democratic Theory of Expertise
  • 2024
  • Doctoral thesis (other academic/artistic)abstract
    • In contemporary society, citizens have access to an unprecedented amount of expertise. However, the tremendous growth of scientific knowledge in late modernity has not translated into greater certainty. Instead, citizens are under pressure to become experts themselves, “experts on experts”. How should we understand the democratic problem reflected in the present crisis of expertise, and what could it mean to respond constructively to it? This thesis addresses this overarching question by critically examining the existing normative approaches to expertise in democracy, and by developing a new approach, drawing on the political thought of Hannah Arendt. Scientific knowledge has often been regarded as apolitical and serving a purely functional role in democratic politics. This assumption no longer appears tenable, given the insights from Science and Technology Studies (STS). In this dissertation, I take the theoretical challenge from STS as my starting point to examine existing normative perspectives on the relationship between expertise and democracy. The two predominant approaches, termed ‘the instrumental’ and ‘the procedural approach’, both embody a Kantian notion of public reason as the foundation of universal legitimacy. However, in my critical examination, I find both approaches insufficient, as they overlook the more existential dimension of the relationship between knowledge and politics. To develop a new approach, I turn to the political thought of the 20th-century thinker Hannah Arendt. By unpacking Arendt’s notion of world alienation, I develop a new interpretation of the democratic problem reflected in the contemporary crisis of expertise. According to this interpretation, the fundamental issue is not that citizens could fail in their new role as experts on experts, but rather that they could resign from it completely. In response to this predicament, I examine three of Arendt’s central concepts – authority, the public, and judgment – and show how they can be utilized to construct a new normative approach to expertise. According to this approach, which I call ‘existential’, experts play a crucial role in democracy as world-builders, constructing public spaces for making sense of knowledge. In their role as world-builders, the experts support public judgment – not by providing citizens a critical standard for rationally adjudicating between competing claims, but by constructing the public contexts where the burden of judgment can be experienced as meaningful and tolerable.
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  • Wallin, Anders, et al. (author)
  • Spatially dependent relationships between environmental factors and phytobenthic communities along the Swedish coast of the Baltic Sea, a numeric model approach
  • Other publication (other academic/artistic)abstract
    • The phytobenthic plant and animal communities are important components in the Baltic Sea ecosystem. In order to properly manage and monitor these communities the knowledge of structuring factors is important. In this study we used multivariate analyses to test the relative importance of environmental variables structuring the phytobenthic communities along the Swedish Baltic Sea coast, how the importance of these factors change with spatial scale and between the three main Baltic Sea sub-basins, the Baltic proper, Bothnian Sea and Bothnian Bay. We also studied the effect of these environmental factors for different species groups. The environmental factors included were salinity, wave exposure, substrate slope, depth and substrate type. For the analysis a large dataset of 1362 diving transects performed with comparable methods was used, describing the phytobenthic plant and animal species depth distribution and coverage. The environmental factors changed in importance at the different scales. The community-environment relationships also differed between the sub-basins, especially in the Bothnian Bay compared to the Baltic proper and Bothnian Sea. In the calculated best combination of factors correlating with the phytobenthic community the depth and the substrate were included in a majority of the analyses, both at different scales and in the different sub-basins. Differences in the correlation between the phytobenthic community and the environmental factors were also found between species groups. The differences between the spatial scales, the sub-basins and the species groups indicate that the criteria for environmental status, and stratification of sampling during local monitoring assessments, have to be area specific.
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  • Wikström, Sofia A., et al. (author)
  • Cover of coastal vegetation as an indicator of eutrophication along environmental gradients
  • 2016
  • In: Marine Biology. - : Springer Science and Business Media LLC. - 0025-3162 .- 1432-1793. ; 163:12
  • Journal article (peer-reviewed)abstract
    • Coastal vegetation communities are important for primary production, biodiversity, coastal protection, carbon and nutrient cycling which, in combination with their sensitivity to eutrophication, render them potential indicators of environmental status for environmental policies like the EU Water and Marine Strategy Framework Directives. We evaluated one potential indicator for coastal vegetation, the cumulative cover at depths where the vegetation is light limited, by investigating its response to eutrophication along gradients in natural conditions. We used a large data set covering the Swedish coastline, spanning broad gradients in nutrient level, water clarity, sea-bed substrate, physical exposure and climate in addition to a salinity gradient from 0.5 to 30.5. Macroalgal cover increased significantly along gradients of declining nutrient concentration and increasing water clarity when we had accounted for diver effects, spatio-temporal sampling variability, salinity gradients, wave exposure and latitude. The developed empirical model explained 79% of the variation in algal cover across 130 areas. Based on this, we identified macroalgal cover as a promising indicator across the Baltic Sea, Kattegat and Skagerrak. A parallel analysis of soft-substrate macrophytes similarly identified significant increases in cover with decreasing concentrations of total nitrogen and increasing salinity, but the resulting empirical model explained only 52% of the variation in cover, probably due to the spatially more variable nature of soft-substrate vegetation. The identified general responses of vegetation cover to gradients of eutrophication across wide ranges in environmental settings may be useful for monitoring and management of marine vegetation in areas with strong environmental gradients.
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  • Wikström, Sofia, et al. (author)
  • Effekter av bottentrålning på ekosystemtjänster i svenska hav
  • 2018
  • Reports (other academic/artistic)abstract
    • Bottentrålsfiske ger omfattande effekter på marina ekosystem och ekosystemprocesser. I rapporten redovisar vi det kunskapsunderlag som finns vad gäller effekterna av trålning på havets ekosystem och de ekosystemtjänster vi får från havet. Vårt syfte med studien har därför varit att ta fram underlag för att bedöma behovet av ytterligare begränsningar av bottentrålning i inflyttningsområdena innanför trålgränsen och i eller i anslutning till skyddade områden utanför trålgränsen. Vi baserar vårt arbete på publicerade vetenskapliga studier från både Sverige och andra delar av världen. När det gäller den specifika situationen i svenska havsområden hämtas mycket av kunskapen från områden som idag är skyddade från bottentrålning, bland annat från Öresund som är ett stort trålfredningsområde mellan Sverige och Danmark, där större delen av havsområdet har varit skyddat mot aktiva fiskeredskap sedan 1932. Bottentrålningen i svenska hav är framförallt koncentrerad till Västerhavet och södra Östersjön men lokalt finns begränsade områden med bottentrålning även i övriga delar av svenska hav. Effekterna av bottentrålning är dels kopplade till påverkan av havsbottnarna, dels till att bottentrålar är starkt selektiva på så sätt att all fisk över en viss storlek fångas, medan mindre fisk har möjlighet att simma igenom nätmaskorna. Dessa effekter kan innebära att många ekosystemtjänster missgynnas. Exempel på ekosystemtjänster som kan påverkas negativt är biologisk mångfald, livsmiljöer på bottnarna, näringsvävar, produktion av livsmedel och rekreation. Studier från svenska hav visar att den pågående bottentrålningen minskar biologisk mångfald och mångfalden av livsmiljöer i trålade områden. Trålningsbegränsningar i skyddade områden kan därför få positiva effekter på ekosystemtjänsterna biologisk mångfald och livsmiljöer. För övriga ekosystemtjänster saknas den kunskap som skulle behövas för att bedöma hur mycket de påverkas av nuvarande trålning i skyddade områden och innanför trålgränsen. Det finns därför ett behov av ytterligare forskning för att kvantifiera effekten av bottentrålning på många av ekosystemtjänsterna. Speciellt behövs mera systematisk forskning och kunskapssynteser kring utnyttjandet av svenska kustområden för att åstadkomma mer heltäckande utvärderingar av de kulturella ekosystemtjänsterna och hur de påverkas av exempelvis bottentrålning.Effekter av tidigare högt fisketryck är mycket tydligt längs hela svenska västkusten norr om Öresund, där lokala rovfiskbestånd, företrädesvis torsk, har försvunnit eller har gått starkt tillbaka, vilket påverkar flera ekosystemtjänster. Det är dock okänt i hur hög grad risttrålfiske efter havskräfta och räka innanför trålgränsen påverkar dessa lokala fiskbestånd idag.
  •  
25.
  • Xia, Zhi Jie, et al. (author)
  • The Swedish COG6-CDG experience and a comprehensive literature review
  • 2023
  • In: JIMD Reports. - : Wiley. - 2192-8304 .- 2192-8312. ; , s. 79-89
  • Book chapter (other academic/artistic)abstract
    • Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6-congenital disorders of glycosylation (COG6-CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disorder (ADHD), delayed brain myelinization, progressive microcephaly, joint laxity, hyperkeratosis, frequent infections, and enamel hypoplasia. In one family, compound heterozygous variants in COG6 were identified, where one (c.785A>G; p.Tyr262Cys) has previously been described in patients of Moroccan descent, whereas the other (c.238G>A; p.Glu80Lys) is undescribed. On the other hand, a previously undescribed homozygous duplication (c.1793_1795dup) was deemed the cause of the disease. To confirm the pathogenicity of the variants, we treated patient and control fibroblasts with the ER-Golgi transport inhibitor Brefeldin-A and show that patient cells manifest a significantly slower anterograde and retrograde ER-Golgi transport.
  •  
26.
  • Zeng, Chenjie, et al. (author)
  • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
  • 2016
  • In: Breast Cancer Research. - : Springer Science and Business Media LLC. - 1465-5411 .- 1465-542X. ; 18
  • Journal article (peer-reviewed)abstract
    • Background: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation. Results: Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 x 10(-9)), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 x 10(-5)), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 x 10(-4)) identified in the general populations, and rs113824616 (P = 7 x 10(-5)) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05. Conclusion: This study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk.
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