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| 5. |
- Graff, M., et al.
(författare)
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Genome-wide physical activity interactions in adiposity. A meta-analysis of 200,452 adults
- 2017
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Ingår i: PLoS Genet. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 13:4
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Tidskriftsartikel (refereegranskat)abstract
- Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 180,423) or other ancestry (n = 20,029). We standardized PA by categorizing it into a dichotomous variable where, on average, 23% of participants were categorized as inactive and 77% as physically active. While we replicate the interaction with PA for the strongest known obesity-risk locus in the FTO gene, of which the effect is attenuated by similar to 30% in physically active individuals compared to inactive individuals, we do not identify additional loci that are sensitive to PA. In additional genome-wide meta-analyses adjusting for PA and interaction with PA, we identify 11 novel adiposity loci, suggesting that accounting for PA or other environmental factors that contribute to variation in adiposity may facilitate gene discovery.
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| 6. |
- Aguiar, A., et al.
(författare)
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Practices in prescribing protein substitutes for PKU in Europe : No uniformity of approach
- 2015
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Ingår i: Molecular Genetics and Metabolism. - : Elsevier BV. - 1096-7192 .- 1096-7206. ; 115:1, s. 17-22
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Tidskriftsartikel (refereegranskat)abstract
- Background: There appears little consensus concerning protein requirements in phenylketonuria (PKU). Methods: A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age, administration frequency and method, monitoring, and type of protein substitute. Data were analysed by European region using descriptive statistics. Results: The amount of total protein (from PS and natural/intact protein) varied according to the European region. Higher median amounts of total protein were prescribed in infants and children in Northern Europe (n = 24 centres) (infants <1 year, >2-3 g/kg/day; 1-3 years of age, >2-3 g/kg/day; 4-10 years of age, >1.5-2.5 g/kg/day) and Southern Europe (n = 10 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, 2 g/kg/day; 4-10 years of age, 1.5-2 g/kg/day), than by Eastern Europe (n = 4 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, >2-2.5 g/kg/day; 4-10 years of age, >1.5-2 g/kg/day) and with Western Europe (n = 25 centres) giving the least (infants <1 year, >2-2.5 g/kg/day, 1-3 years of age, 1.5-2 g/kg/day; 4-10 years of age, 1-1.5 g/kg/day). Total protein prescription was similar in patients aged >10 years (1-1.5 g/kg/day) and maternal patients (1-1.5 g/kg/day). Conclusions: The amounts of total protein prescribed varied between European countries and appeared to be influenced by geographical region. In PKU, all gave higher than the recommended 2007 WHO/FAO/UNU safe levels of protein intake for the general population.
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| 12. |
- Chauvin, G., et al.
(författare)
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Investigating the young solar system analog HD 95086 A combined HARPS and SPHERE exploration
- 2018
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 617
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Tidskriftsartikel (refereegranskat)abstract
- Context. HD 95086 (A8V, 17 Myr) hosts a rare planetary system for which a multi-belt debris disk and a giant planet of 4-5 Mjup have been directly imaged.Aims. Our study aims to characterize the global architecture of this young system using the combination of radial velocity and direct imaging observations. We want to characterize the physical and orbital properties of HD 95086 b, search for additional planets at short and wide orbits and image the cold outer debris belt in scattered light.Methods. We used HARPS at the ESO 3.6 m telescope to monitor the radial velocity of HD 95086 over two years and investigate the existence of giant planets at less than 3 au orbital distance. With the IRDIS dual-band imager and the IFS integral field spectrograph of SPHERE at VLT, we imaged the faint circumstellar environment beyond 10 au at six epochs between 2015 and 2017.Results. We do not detect additional giant planets around HD 95086. We identify the nature (bound companion or background contaminant) of all point-like sources detected in the IRDIS field of view. None of them correspond to the ones recently discovered near the edge of the cold outer belt by ALMA. HD 95086 b is resolved for the first time in J-band with IFS. Its near-infrared spectral energy distribution is well fitted by a few dusty and/or young L7-L9 dwarf spectral templates. The extremely red 1-4 mu m spectral distribution is typical of low-gravity objects at the L/T spectral type transition. The planet's orbital motion is resolved between January 2015 and May 2017. Together with past NaCo measurements properly re-calibrated, our orbital fitting solutions favor a retrograde low to moderate-eccentricity orbit e = 0.2(-0.2)(+0.3), with a semi-major axis similar to 52 au corresponding to orbital periods of similar to 288 yr and an inclination that peaks at i = 141 degrees, which is compatible with a planet-disk coplanar configuration. Finally, we report the detection in polarimetric differential imaging of the cold outer debris belt between 100 and 300 au, consistent in radial extent with recent ALMA 1.3 mm resolved observations.
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| 13. |
- Barrett, Jennifer H., et al.
(författare)
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Genome-wide association study identifies three new melanoma susceptibility loci
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:11, s. 1108-1113
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Tidskriftsartikel (refereegranskat)abstract
- We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10(-5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall P = 3.4 x 10(-9)), an SNP in MX2 (rs45430, P = 2.9 x 10-9) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 x 10(-10)). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 x 10(-7) under a fixed-effects model and P = 1.2 x 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series.
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| 14. |
- Olofsson, J., et al.
(författare)
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Azimuthal asymmetries in the debris disk around HD61005 A massive collision of planetesimals?
- 2016
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 591
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Tidskriftsartikel (refereegranskat)abstract
- Context. Debris disks off er valuable insights into the latest stages of circumstellar disk evolution, and can possibly help us to trace the outcomes of planetary formation processes. In the age range 10 to 100 Myr, most of the gas is expected to have been removed from the system, giant planets (if any) must have already been formed, and the formation of terrestrial planets may be on-going. Pluto-sized planetesimals, and their debris released in a collisional cascade, are under their mutual gravitational influence, which may result into non-axisymmetric structures in the debris disk. Aims. High angular resolution observations are required to investigate these effects and constrain the dynamical evolution of debris disks. Furthermore, multi-wavelength observations can provide information about the dust dynamics by probing different grain sizes. Methods. Here we present new VLT/SPHERE and ALMA observations of the debris disk around the 40 Myr-old solar-type star HD61005. We resolve the disk at unprecedented resolution both in the near-infrared (in scattered and polarized light) and at millimeter wavelengths. We perform a detailed modeling of these observations, including the spectral energy distribution. Results. Thanks to the new observations, we propose a solution for both the radial and azimuthal distribution of the dust grains in the debris disk. We find that the disk has a moderate eccentricity (e similar to 0.1) and that the dust density is two times larger at the pericenter compared to the apocenter. Conclusions. With no giant planets detected in our observations, we investigate alternative explanations besides planet-disk interactions to interpret the inferred disk morphology. We postulate that the morphology of the disk could be the consequence of a massive collision between similar to 1000 km-sized bodies at similar to 61 au. If this interpretation holds, it would put stringent constraints on the formation of massive planetesimals at large distances from the star.
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| 16. |
- Bishop, D. Timothy, et al.
(författare)
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Genome-wide association study identifies three loci associated with melanoma risk
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:8, s. 920-925
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Tidskriftsartikel (refereegranskat)abstract
- We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P < 5 x 10(-7). Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 x 10(-27) for rs258322), 11q14-q21 encompassing TYR (P = 2.41 x 10(-14) for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 x 10(-7) for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.
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| 18. |
- Eiroa, C., et al.
(författare)
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Exocomet signatures around the A-shell star φ Leonis?
- 2016
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 594
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Tidskriftsartikel (refereegranskat)abstract
- We present an intensive monitoring of high-resolution spectra of the Ca ii K line in the A7IV shell star φ Leo at very short (minutes, hours), short (night to night), and medium (weeks, months) timescales. The spectra show remarkable variable absorptions on timescales of hours, days, and months. The characteristics of these sporadic events are very similar to most that are observed toward the debris disk host star β Pic, which are commonly interpreted as signs of the evaporation of solid, comet-like bodies grazing or falling onto the star. Therefore, our results suggest the presence of solid bodies around φ Leo. To our knowledge, with the exception of β Pic, our monitoring has the best time resolution at the mentioned timescales for a star with events attributed to exocomets. Assuming the cometary scenario and considering the timescales of our monitoring, our results indicate that φ Leo presents the richest environment with comet-like events known to date, second only to β Pic.
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| 19. |
- Iles, Mark M., et al.
(författare)
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A variant in FTO shows association with melanoma risk not due to BMI
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:4, s. 428-432
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Tidskriftsartikel (refereegranskat)abstract
- We report the results of an association study of melanoma that is based on the genome-wide imputation of the genotypes of 1,353 cases and 3,566 controls of European origin conducted by the GenoMEL consortium. This revealed an association between several SNPs in intron 8 of the FTO gene, including rs16953002, which replicated using 12,313 cases and 55,667 controls of European ancestry from Europe, the USA and Australia (combined P = 3.6 x 10(-12), per-allele odds ratio for allele A = 1.16). In addition to identifying a new melanomasusceptibility locus, this is to our knowledge the first study to identify and replicate an association with SNPs in FTO not related to body mass index (BMI). These SNPs are not in intron 1 (the BMI-related region) and exhibit no association with BMI. This suggests FTO's function may be broader than the existing paradigm that FTO variants influence multiple traits only through their associations with BMI and obesity.
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| 20. |
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| 21. |
- Demenais, F, et al.
(författare)
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Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study.
- 2010
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 102, s. 1568-1583
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Tidskriftsartikel (refereegranskat)abstract
- Background Carrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes, and some variants of the melanocortin-1 receptor gene (MC1R), which is known to have a role in the pigmentation process. However, investigation of the associations of both MC1R variants and host phenotypes with melanoma risk has been limited. Methods We included 815 CDKN2A mutation carriers (473 affected, and 342 unaffected, with melanoma) from 186 families from 15 centers in Europe, North America, and Australia who participated in the Melanoma Genetics Consortium. In this family-based study, we assessed the associations of the four most frequent MC1R variants (V60L, V92M, R151C, and R160W) and the number of variants (1, ≥2 variants), alone or jointly with the host phenotypes (hair color, propensity to sunburn, and number of nevi), with melanoma risk in CDKN2A mutation carriers. These associations were estimated and tested using generalized estimating equations. All statistical tests were two-sided. Results Carrying any one of the four most frequent MC1R variants (V60L, V92M, R151C, R160W) in CDKN2A mutation carriers was associated with a statistically significantly increased risk for melanoma across all continents (1.24 × 10(-6) ≤ P ≤ .0007). A consistent pattern of increase in melanoma risk was also associated with increase in number of MC1R variants. The risk of melanoma associated with at least two MC1R variants was 2.6-fold higher than the risk associated with only one variant (odds ratio = 5.83 [95% confidence interval = 3.60 to 9.46] vs 2.25 [95% confidence interval = 1.44 to 3.52]; P(trend) = 1.86 × 10(-8)). The joint analysis of MC1R variants and host phenotypes showed statistically significant associations of melanoma risk, together with MC1R variants (.0001 ≤ P ≤ .04), hair color (.006 ≤ P ≤ .06), and number of nevi (6.9 × 10(-6) ≤ P ≤ .02). Conclusion Results show that MC1R variants, hair color, and number of nevi were jointly associated with melanoma risk in CDKN2A mutation carriers. This joint association may have important consequences for risk assessments in familial settings.
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| 22. |
- Rebollido, I., et al.
(författare)
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The co-existence of hot and cold gas in debris discs
- 2018
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 614
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Tidskriftsartikel (refereegranskat)abstract
- Context. Debris discs have often been described as gas-poor discs as the gas-to-dust ratio is expected to be considerably lower than in primordial, protoplanetary discs. However, recent observations have confirmed the presence of a non-negligible amount of cold gas in the circumstellar (CS) debris discs around young main-sequence stars. This cold gas has been suggested to be related to the outgassing of planetesimals and cometary-like objects. Aims. The goal of this paper is to investigate the presence of hot gas in the immediate surroundings of the cold-gas-bearing debris-disc central stars. Methods. High-resolution optical spectra of all currently known cold-gas-bearing debris-disc systems, with the exception of β Pic and Fomalhaut, have been obtained from La Palma (Spain), La Silla (Chile), and La Luz (Mexico) observatories. To verify the presence of hot gas around the sample of stars, we have analysed the Ca II H&K and the Na I D lines searching for non-photospheric absorptions of CS origin, usually attributed to cometary-like activity. Results. Narrow, stable Ca II and/or Na I absorption features have been detected superimposed to the photospheric lines in 10 out of the 15 observed cold-gas-bearing debris-disc stars. Features are found at the radial velocity of the stars, or slightly blue- or red-shifted, and/or at the velocity of the local interstellar medium (ISM). Some stars also present transient variable events or absorptions extended towards red wavelengths (red wings). These are the first detections of such Ca II features in 7 out of the 15 observed stars. Although an ISM origin cannot categorically be excluded, the results suggest that the stable and variable absorptions arise from relatively hot gas located in the CS close-in environment of the stars. This hot gas is detected in at least ~80%, of edge-on cold-gas-bearing debris discs, while in only ~10% of the discs seen close to face-on. We interpret this result as a geometrical effect, and suggest that the non-detection of hot gas absorptions in some face-on systems is due to the disc inclination and likely not to the absence of the hot-gas component. This gas is likely released in physical processes related in some way to the evaporation of exocomets, evaporation of dust grains, or grain-grain collisions close to the central star.
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| 23. |
- Liu, E. J., et al.
(författare)
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Aerial strategies advance volcanic gas measurements at inaccessible, strongly degassing volcanoes
- 2020
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Ingår i: Science advances. - : American Association for the Advancement of Science (AAAS). - 2375-2548. ; 6:44
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Tidskriftsartikel (refereegranskat)abstract
- Volcanic emissions are a critical pathway in Earth's carbon cycle. Here, we show that aerial measurements of volcanic gases using unoccupied aerial systems (UAS) transform our ability to measure and monitor plumes remotely and to constrain global volatile fluxes from volcanoes. Combining multi-scale measurements from ground-based remote sensing, long-range aerial sampling, and satellites, we present comprehensive gas fluxes-3760 ± [600, 310] tons day-1 CO2 and 5150 ± [730, 340] tons day-1 SO2-for a strong yet previously uncharacterized volcanic emitter: Manam, Papua New Guinea. The CO2/ST ratio of 1.07 ± 0.06 suggests a modest slab sediment contribution to the sub-arc mantle. We find that aerial strategies reduce uncertainties associated with ground-based remote sensing of SO2 flux and enable near-real-time measurements of plume chemistry and carbon isotope composition. Our data emphasize the need to account for time averaging of temporal variability in volcanic gas emissions in global flux estimates.
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| 24. |
- Rebollido, I., et al.
(författare)
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Exocomets: A spectroscopic survey
- 2020
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 639
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Tidskriftsartikel (refereegranskat)abstract
- Context. While exoplanets are now routinely detected, the detection of small bodies in extrasolar systems remains challenging. Since the discovery of sporadic events, which are interpreted to be exocomets (falling evaporating bodies) around β Pic in the early 1980s, only ∼20 stars have been reported to host exocomet-like events. Aims. We aim to expand the sample of known exocomet-host stars, as well as to monitor the hot-gas environment around stars with previously known exocometary activity. Methods. We have obtained high-resolution optical spectra of a heterogeneous sample of 117 main-sequence stars in the spectral type range from B8 to G8. The data were collected in 14 observing campaigns over the course of two years from both hemispheres. We analysed the Ca » II K&H and Na » I D lines in order to search for non-photospheric absorptions that originated in the circumstellar environment and for variable events that could be caused by the outgassing of exocomet-like bodies. Results. We detected non-photospheric absorptions towards 50% of the sample, thus attributing a circumstellar origin to half of the detections (i.e. 26% of the sample). Hot circumstellar gas was detected in the metallic lines inspected via narrow stable absorptions and/or variable blue- and red-shifted absorption events. Such variable events were found in 18 stars in the Ca » II and/or Na » I lines; six of them are reported in the context of this work for the first time. In some cases, the variations we report in the Ca » II K line are similar to those observed in β Pic. While we do not find a significant trend in the age or location of the stars, we do find that the probability of finding CS gas in stars with larger v sin i is higher. We also find a weak trend with the presence of near-infrared excess and with anomalous (λ Boo-like) abundances, but this would require confirmation by expanding the sample.
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| 25. |
- van der Harst, Pim, et al.
(författare)
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Seventy-five genetic loci influencing the human red blood cell
- 2012
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 492:7429, s. 369-375
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Tidskriftsartikel (refereegranskat)abstract
- Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.
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| 26. |
- Daemen, A., et al.
(författare)
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Improving the preoperative classification of adnexal masses as benign or malignant by second-stage tests
- 2011
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Ingår i: Ultrasound in Obstetrics & Gynecology. - : Wiley. - 1469-0705 .- 0960-7692. ; 37:1, s. 100-106
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Tidskriftsartikel (refereegranskat)abstract
- Objective The aim of this study was to establish when a second-stage diagnostic test may be of value in cases where a primary diagnostic test has given an uncertain diagnosis of the benign or malignant nature of an adnexal mass. Methods The diagnostic performance with regard to discrimination between benign and malignant adnexal masses for mathematical models including ultrasound variables and for subjective evaluation of ultrasound findings by an experienced ultrasound examiner was expressed as area under the receiver-operating characteristics curve (AUC), sensitivity and specificity. These were calculated for the total study population of 1938 patients with an adnexal mass as well as for sub-populations defined by the certainty with which the diagnosis of benignity or malignancy was made. The effect of applying a second-stage test to the tumors where risk estimation was uncertain was determined. Results The best mathematical model (LR1) had an AUC of 0.95, sensitivity of 92% and specificity of 84% when applied to all tumors. When model LR1 was applied to the 10% of tumors in which the calculated risk fell closest to the risk cut-off of the model, the AUC was 0.59, sensitivity 90% and specificity 21%. A strategy where subjective evaluation was used to classify these 10% of tumors for which LR1 performed poorly and where LR1 was used in the other 90% of tumors resulted in a sensitivity of 91% and specificity of 90%. Applying subjective evaluation to all tumors yielded an AUC of 0.95, sensitivity of 90% and specificity of 93%. Sensitivity was 81% and specificity 47% for those patients where the ultrasound examiner was uncertain about the diagnosis (n = 115; 5.9%). No mathematical model performed better than did subjective evaluation among the 115 tumors where the ultrasound examiner was uncertain. Conclusion When model LR1 is used as a primary test for discriminating between benign and malignant adnexal masses, the use of subjective evaluation of ultrasound findings by an experienced examiner as a second-stage test in the 10% of cases for which the model yields a risk of malignancy closest to its risk cut-off will improve specificity without substantially decreasing sensitivity. However, none of the models tested proved suitable as a second-stage test in tumors where subjective evaluation yielded an uncertain result. Copyright (C) 2010 ISUOG. Published by John Wiley & Sons, Ltd.
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| 27. |
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| 28. |
- Sladkevicius, P., et al.
(författare)
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International Endometrial Tumor Analysis (IETA) terminology in women with postmenopausal bleeding and sonographic endometrial thickness ≥ 4.5 mm : agreement and reliability study
- 2018
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Ingår i: Ultrasound in Obstetrics and Gynecology. - : Wiley. - 0960-7692 .- 1469-0705. ; 51:2, s. 259-268
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To estimate intra- and interrater agreement and reliability with regard to describing ultrasound images of the endometrium using the International Endometrial Tumor Analysis (IETA) terminology. Methods: Four expert and four non-expert raters assessed videoclips of transvaginal ultrasound examinations of the endometrium obtained from 99 women with postmenopausal bleeding and sonographic endometrial thickness ≥ 4.5 mm but without fluid in the uterine cavity. The following features were rated: endometrial echogenicity, endometrial midline, bright edge, endometrial–myometrial junction, color score, vascular pattern, irregularly branching vessels and color splashes. The color content of the endometrial scan was estimated using a visual analog scale graded from 0 to 100. To estimate intrarater agreement and reliability, the same videoclips were assessed twice with a minimum of 2 months' interval. The raters were blinded to their own results and to those of the other raters. Results: Interrater differences in the described prevalence of most IETA variables were substantial, and some variable categories were observed rarely. Specific agreement was poor for variables with many categories. For binary variables, specific agreement was better for absence than for presence of a category. For variables with more than two outcome categories, specific agreement for expert and non-expert raters was best for not-defined endometrial midline (93% and 96%), regular endometrial–myometrial junction (72% and 70%) and three-layer endometrial pattern (67% and 56%). The grayscale ultrasound variable with the best reliability was uniform vs non-uniform echogenicity (multirater kappa (κ), 0.55 for expert and 0.52 for non-expert raters), and the variables with the lowest reliability were appearance of the endometrial–myometrial junction (κ, 0.25 and 0.16) and the nine-category endometrial echogenicity variable (κ, 0.29 and 0.28). The most reliable color Doppler variable was color score (mean weighted κ, 0.77 and 0.69). Intra- and interrater agreement and reliability were similar for experts and non-experts. Conclusions: Inter- and intrarater agreement and reliability when using IETA terminology were limited. This may have implications when assessing the association between a particular ultrasound feature and a specific histological diagnosis, because lack of reproducibility reduces the reliability of the association between a feature and the outcome. Future studies should investigate whether using fewer categories of variable or offering practical training could improve agreement and reliability.
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| 29. |
- Aiuppa, A., et al.
(författare)
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Gas measurements from the Costa Rica-Nicaragua volcanic segment suggest possible along-arc variations in volcanic gas chemistry
- 2014
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Ingår i: Earth and Planetary Science Letters. - : Elsevier BV. - 1385-013X .- 0012-821X. ; 407, s. 134-147
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Tidskriftsartikel (refereegranskat)abstract
- Obtaining accurate estimates of the CO2 output from arc volcanism requires a precise understanding of the potential along-arc variations in volcanic gas chemistry, and ultimately of the magmatic gas signature of each individual arc segment. In an attempt to more fully constrain the magmatic gas signature of the Central America Volcanic Arc (CAVA), we present here the results of a volcanic gas survey performed during March and April 2013 at five degassing volcanoes within the Costa Rica-Nicaragua volcanic segment (CNVS). Observations of the volcanic gas plume made with a multicomponent gas analyzer system (Multi-GAS) have allowed characterization of the CO2/SO2-ratio signature of the plumes at Pads (0.30 +/- 0.06, mean +/- SD), Rincon de la Vieja (27.0 +/- 15.3), and Turrialba (2.2 +/- 0.8) in Costa Rica, and at Telica (3.0 +/- 0.9) and San Cristobal (4.2 +/- 1.3) in Nicaragua (all ratios on molar basis). By scaling these plume compositions to simultaneously measured SO2 fluxes, we estimate that the CO2 outputs at CNVS volcanoes range from low (25.5 +/- 11.0 tons/day at Pods) to moderate (918 to 1270 tons/day at Turrialba). These results add a new information to the still fragmentary volcanic CO2 output data set, and allow estimating the total CO2 output from the CNVS at 2835 1364 tons/day. Our novel results, with previously available information about gas emissions in Central America, are suggestive of distinct volcanic gas CO2/S-T (= SO2 + H2S)-ratio signature for magmatic volatiles in Nicaragua (similar to 3) relative to Costa Rica (similar to 0.5-1.0). We also provide additional evidence for the earlier theory relating the CO2-richer signature of Nicaragua volcanism to increased contributions from slab-derived fluids, relative to more-MORB-like volcanism in Costa Rica. The sizeable along-arc variations in magmatic gas chemistry that the present study has suggested indicate that additional gas observations are urgently needed to more-precisely confine the volcanic CO2 from the CAVA, and from global arc volcanism.
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| 30. |
- Coorevits, Pascal, et al.
(författare)
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Electronic health records : new opportunities for clinical research
- 2013
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Ingår i: Journal of Internal Medicine. - : Wiley-Blackwell. - 0954-6820 .- 1365-2796. ; 274:6, s. 547-60
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Tidskriftsartikel (refereegranskat)abstract
- Clinical research is on the threshold of a new era in which electronic health records (EHRs) are gaining an important novel supporting role. Whilst EHRs used for routine clinical care have some limitations at present, as discussed in this review, new improved systems and emerging research infrastructures are being developed to ensure that EHRs can be used for secondary purposes such as clinical research, including the design and execution of clinical trials for new medicines. EHR systems should be able to exchange information through the use of recently published international standards for their interoperability and clinically validated information structures (such as archetypes and international health terminologies), to ensure consistent and more complete recording and sharing of data for various patient groups. Such systems will counteract the obstacles of differing clinical languages and styles of documentation as well as the recognized incompleteness of routine records. Here, we discuss some of the legal and ethical concerns of clinical research data reuse and technical security measures that can enable such research while protecting privacy. In the emerging research landscape, cooperation infrastructures are being built where research projects can utilize the availability of patient data from federated EHR systems from many different sites, as well as in international multilingual settings. Amongst several initiatives described, the EHR4CR project offers a promising method for clinical research. One of the first achievements of this project was the development of a protocol feasibility prototype which is used for finding patients eligible for clinical trials from multiple sources.
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| 31. |
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| 32. |
- Duffy, DL, et al.
(författare)
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Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 299-
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Tidskriftsartikel (refereegranskat)abstract
- The original version of this Article contained errors in the spelling of the authors Fan Liu and M. Arfan Ikram, which were incorrectly given as Fan Lui and Arfan M. Ikram. In addition, the original version of this Article also contained errors in the author affiliations which are detailed in the associated Publisher Correction.
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| 33. |
- Elmhagen, Bodil, et al.
(författare)
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Interacting effects of change in climate, human population, land use, and water use on biodiversity and ecosystem services
- 2015
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Ingår i: Ecology and Society. - 1708-3087. ; 20:1
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Tidskriftsartikel (refereegranskat)abstract
- Human population growth and resource use, mediated by changes in climate, land use, and water use, increasingly impact biodiversity and ecosystem services provision. However, impacts of these drivers on biodiversity and ecosystem services are rarely analyzed simultaneously and remain largely unknown. An emerging question is how science can improve the understanding of change in biodiversity and ecosystem service delivery and of potential feedback mechanisms of adaptive governance. We analyzed past and future change in drivers in south-central Sweden. We used the analysis to identify main research challenges and outline important research tasks. Since the 19th century, our study area has experienced substantial and interlinked changes; a 1.6 degrees C temperature increase, rapid population growth, urbanization, and massive changes in land use and water use. Considerable future changes are also projected until the mid-21st century. However, little is known about the impacts on biodiversity and ecosystem services so far, and this in turn hampers future projections of such effects. Therefore, we urge scientists to explore interdisciplinary approaches designed to investigate change in multiple drivers, underlying mechanisms, and interactions over time, including assessment and analysis of matching-scale data from several disciplines. Such a perspective is needed for science to contribute to adaptive governance by constantly improving the understanding of linked change complexities and their impacts.
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| 34. |
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| 35. |
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| 36. |
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| 37. |
- Reiter, U, et al.
(författare)
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Factors Influencing Quality of Experience
- 2014
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Ingår i: Quality of Experience. - Cham : Springer International Publishing. - 9783319026800 - 9783319026817 ; , s. 55-72
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 38. |
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| 39. |
- van den Bosch, T., et al.
(författare)
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Terms, definitions and measurements to describe sonographic features of myometrium and uterine masses: a consensus opinion from the Morphological Uterus Sonographic Assessment (MUSA) group
- 2015
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Ingår i: Ultrasound in Obstetrics & Gynecology. - : Wiley. - 1469-0705 .- 0960-7692. ; 46:3, s. 284-298
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Tidskriftsartikel (refereegranskat)abstract
- The MUSA (Morphological Uterus Sonographic Assessment) statement is a consensus statement on terms, definitions and measurements that may be used to describe and report the sonographic features of the myometrium using gray-scale sonography, color/power Doppler and three-dimensional ultrasound imaging. The terms and definitions described may form the basis for prospective studies to predict the risk of different myometrial pathologies, based on their ultrasound appearance, and thus should be relevant for the clinician in daily practice and for clinical research. The sonographic features and use of terminology for describing the two most common myometrial lesions (fibroids and adenomyosis) and uterine smooth muscle tumors are presented. Copyright (C) 2015 ISUOG. Published by John Wiley & Sons Ltd.
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| 40. |
- Van Holsbeke, C., et al.
(författare)
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Real-time ultrasound vs. evaluation of static images in the preoperative assessment of adnexal masses
- 2008
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Ingår i: Ultrasound in Obstetrics & Gynecology. - : Wiley. - 1469-0705 .- 0960-7692. ; 32:6, s. 828-831
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Tidskriftsartikel (refereegranskat)abstract
- Objective To determine if the prediction of the Malignancy of all adnexal mass using pattern recognition, i.e. subjective evaluation of gray-scale and Doppler ultrasound findings, is as accurate when based on static images as it is when based on a real-time ultrasound examination. Methods The static images of 166 non-consecutive patients with 'difficult' adnexal masses, who all underwent surgery and for whom a histopathological diagnosis was available, were evaluated by three experts in gynecological ultrasound (image experts'). All ultrasound examinations bad been performed and the static images saved by a fourth expert sonologist ('real-time' sonologist). All four sonologists classified the adnexal masses as benign or malignant based on their subjective impression and stated with what degree of confidence their diagnosis was made. The diagnostic performance of the real-time sonologist was compared with that of each of The three image experts and with that of the 'consensus opinion' of the image experts (i.e. the diagnosis suggested by at least two of the latter). Results The real-time sonologist correctly predicted the diagnosis with an accuracy of 89% (148/166) vs. 85% (141/166) for the consensus opinion of static images (P = 0.0707). Equivalent values for sensitivity and specificity were 80% (56/170) vs. 83%, (58/70) (P = 0.4142) and 96%) (92/96) us. 86%, (83/96) (P = 0.0027), respectively. Conclusions The preoperative diagnosis of all adnexal mass made on the basis of a real-time ultrasound examination is more precise than a diagnosis made on the basis of saved static ultrasound images. Evaluation of static images is associated with lower diagnostic specificity. Copyright (c) 2008 ISUOG. Published by John Wiley & Sons, Ltd.
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| 41. |
- Van Holsbeke, C., et al.
(författare)
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Ultrasound methods to distinguish between malignant and benign adnexal masses in the hands of examiners with different levels of experience
- 2009
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Ingår i: Ultrasound in Obstetrics & Gynecology. - : Wiley. - 1469-0705 .- 0960-7692. ; 34:4, s. 454-461
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Tidskriftsartikel (refereegranskat)abstract
- Objectives To determine the effect of an ultrasound training course on the performance of pattern recognition when used by less experienced examiners and to compare the performance of pattern recognition, a logistic regression model and a scoring system to estimate the risk of malignancy between examiners with different levels of experience. Methods Using ultrasound images of selected adnexal masses, two trainees classified the masses as benign or malignant by using pattern recognition both before and after they bad attended a theoretical gynecological ultrasound course. They also classified the masses by using a logistic regression model and a scoring system, but only after they bad attended the course. The performance of these three methods when they were used by the trainees was then compared with that when they were used by experts. Results One hundred and sixty-five adnexal masses were included, of which 42% were malignant (21% invasive tumors and 21% borderline tumors). The area under the receiver- operating characteristics curve of pattern recognition when used by the trainees was similar before and after they had attended the course. Training decreased sensitivity (84% vs. 70% for Trainee 1, P = 0.004; 70% vs. 61% for Trainee2, P = 0.08) and increased specificity (77% vs. 92% for Trainee 1, P = 0.001; 89% vs. 95% for Trainee 2, P = 0.058). The performance of pattern recognition was poorer in the hands of the trainees than in the bands of the experts. The sensitivities of the logistic regression model were 70% and 54% for the trainees vs. 83% for an expert (P = 0.020 and < 0.001, respectively) and the specificities were 84% and 94% vs. 89% (P = 0.25 and 0.59, respectively). The sensitivities of the scoring system were 59% and 54% for the trainees vs. 75% for the expert (P = 0.002 and < 0.001, respectively), and the specificities were 90% and 93% vs. 85% (P = 0.103 and 0.008, respectively). Conclusion Theoretical ultrasound teaching did not seem to improve the performance of pattern recognition in the bands of trainees. A logistic regression model and a scoring system to classify adnexal masses as benign or malignant perform less well when they were used by inexperienced examiners than when used by an expert. Before using a model or a scoring system, experience and/or proper training are likely to be of paramount importance if diagnostic performance is to be optimized. Copyright (C) 2009 ISUOG. Published by John Wiley & Sons, Ltd.
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| 42. |
- Arellano, Santiago, 1981, et al.
(författare)
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Synoptic analysis of a decade of daily measurements of SO2 emission in the troposphere from volcanoes of the global ground-based Network for Observation of Volcanic and Atmospheric Change
- 2021
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Ingår i: Earth System Science Data. - : Copernicus GmbH. - 1866-3516 .- 1866-3508. ; 13:3, s. 1167-1188
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Tidskriftsartikel (refereegranskat)abstract
- Volcanic plumes are common and far-reaching manifestations of volcanic activity during and between eruptions. Observations of the rate of emission and composition of volcanic plumes are essential to recognize and, in some cases, predict the state of volcanic activity. Measurements of the size and location of the plumes are important to assess the impact of the emission from sporadic or localized events to persistent or widespread processes of climatic and environmental importance. These observations provide information on volatile budgets on Earth, chemical evolution of magmas, and atmospheric circulation and dynamics. Space-based observations during the last decades have given us a global view of Earth's volcanic emission, particularly of sulfur dioxide (SO2). Although none of the satellite missions were intended to be used for measurement of volcanic gas emission, specially adapted algorithms have produced time-averaged global emission budgets. These have confirmed that tropospheric plumes, produced from persistent degassing of weak sources, dominate the total emission of volcanic SO2. Although space-based observations have provided this global insight into some aspects of Earth's volcanism, it still has important limitations. The magnitude and short-term variability of lower-atmosphere emissions, historically less accessible from space, remain largely uncertain. Operational monitoring of volcanic plumes, at scales relevant for adequate surveillance, has been facilitated through the use of ground-based scanning differential optical absorption spectrometer (ScanDOAS) instruments since the beginning of this century, largely due to the coordinated effort of the Network for Observation of Volcanic and Atmospheric Change (NOVAC). In this study, we present a compilation of results of homogenized post-analysis of measurements of SO2 flux and plume parameters obtained during the period March 2005 to January 2017 of 32 volcanoes in NOVAC. This inventory opens a window into the short-term emission patterns of a diverse set of volcanoes in terms of magma composition, geographical location, magnitude of emission, and style of eruptive activity. We find that passive volcanic degassing is by no means a stationary process in time and that large sub-daily variability is observed in the flux of volcanic gases, which has implications for emission budgets produced using short-term, sporadic observations. The use of a standard evaluation method allows for intercomparison between different volcanoes and between ground- and space-based measurements of the same volcanoes. The emission of several weakly degassing volcanoes, undetected by satellites, is presented for the first time. We also compare our results with those reported in the literature, providing ranges of variability in emission not accessible in the past. The open-access data repository introduced in this article will enable further exploitation of this unique dataset, with a focus on volcanological research, risk assessment, satellite-sensor validation, and improved quantification of the prevalent tropospheric component of global volcanic emission. Datasets for each volcano are made available at https://novac.chalmers.se (last access: 1 October 2020) under the CC-BY 4 license or through the DOI (digital object identifier) links provided in Table 1.
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| 43. |
- Balic, Anamaria, et al.
(författare)
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Extracellular matrix remodelling in dental pulp tissue of carious human teeth through the prism of single-cell RNA sequencing
- 2023
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Ingår i: International Journal of Oral Science. - 2049-3169. ; 15:1
-
Tidskriftsartikel (refereegranskat)abstract
- Carious lesions are bacteria-caused destructions of the mineralised dental tissues, marked by the simultaneous activation of immune responses and regenerative events within the soft dental pulp tissue. While major molecular players in tooth decay have been uncovered during the past years, a detailed map of the molecular and cellular landscape of the diseased pulp is still missing. In this study we used single-cell RNA sequencing analysis, supplemented with immunostaining, to generate a comprehensive single-cell atlas of the pulp of carious human teeth. Our data demonstrated modifications in the various cell clusters within the pulp of carious teeth, such as immune cells, mesenchymal stem cells (MSC) and fibroblasts, when compared to the pulp of healthy human teeth. Active immune response in the carious pulp tissue is accompanied by specific changes in the fibroblast and MSC clusters. These changes include the upregulation of genes encoding extracellular matrix (ECM) components, including COL1A1 and Fibronectin (FN1), and the enrichment of the fibroblast cluster with myofibroblasts. The incremental changes in the ECM composition of carious pulp tissues were further confirmed by immunostaining analyses. Assessment of the Fibronectin fibres under mechanical strain conditions showed a significant tension reduction in carious pulp tissues, compared to the healthy ones. The present data demonstrate molecular, cellular and biomechanical alterations in the pulp of human carious teeth, indicative of extensive ECM remodelling, reminiscent of fibrosis observed in other organs. This comprehensive atlas of carious human teeth can facilitate future studies of dental pathologies and enable comparative analyses across diseased organs.
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| 44. |
- Cataldi, Gianni, et al.
(författare)
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Primordial or Secondary? Testing Models of Debris Disk Gas with ALMA*
- 2023
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 951:2
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Tidskriftsartikel (refereegranskat)abstract
- The origin and evolution of gas in debris disks are still not well understood. Secondary gas production from cometary material or a primordial origin have been proposed. So far, observations have mostly concentrated on CO, with only a few C observations available. We overview the C and CO content of debris disk gas and test state-of-the-art models. We use new and archival Atacama Large Millimeter/submillimeter Array (ALMA) observations of CO and C i emission, complemented by C ii data from Herschel, for a sample of 14 debris disks. This expands the number of disks with ALMA measurements of both CO and C i by 10 disks. We present new detections of C i emission toward three disks: HD 21997, HD 121191, and HD 121617. We use a simple disk model to derive gas masses and column densities. We find that current state-of-the-art models of secondary gas production overpredict the C-0 content of debris disk gas. This does not rule out a secondary origin, but might indicate that the models require an additional C removal process. Alternatively, the gas might be produced in transient events rather than a steady-state collisional cascade. We also test a primordial gas origin by comparing our results to a simplified thermochemical model. This yields promising results, but more detailed work is required before a conclusion can be reached. Our work demonstrates that the combination of C and CO data is a powerful tool to advance our understanding of debris disk gas.
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| 45. |
- Cataldi, Gianni, et al.
(författare)
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The Surprisingly Low Carbon Mass in the Debris Disk around HD 32297
- 2020
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 892:2
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Tidskriftsartikel (refereegranskat)abstract
- Gas has been detected in a number of debris disks. It is likely secondary, i.e., produced by colliding solids. Here, we report ALMA Band 8 observations of neutral carbon in the CO-rich debris disk around the 15-30 Myr old A-type star HD 32297. We find that C-0 is located in a ring at similar to 110 au with an FWHM of similar to 80 au and has a mass of (3.5 0.2) x 10(-3) M-circle plus. Naively, such a surprisingly small mass can be accumulated from CO photodissociation in a time as short as similar to 10(4) yr. We develop a simple model for gas production and destruction in this system, properly accounting for CO self-shielding and shielding by neutral carbon, and introducing a removal mechanism for carbon gas. We find that the most likely scenario to explain both C-0 and CO observations is one where the carbon gas is rapidly removed on a timescale of order a thousand years and the system maintains a very high CO production rate of similar to 15 M-circle plus Myr(-1), much higher than the rate of dust grind-down. We propose a possible scenario to meet these peculiar conditions: the capture of carbon onto dust grains, followed by rapid CO re-formation and rerelease. In steady state, CO would continuously be recycled, producing a CO-rich gas ring that shows no appreciable spreading over time. This picture might be extended to explain other gas-rich debris disks.
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| 46. |
- Davies, John R., et al.
(författare)
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An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study
- 2014
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Ingår i: Pigment Cell & Melanoma Research. - : Wiley. - 1755-148X .- 1755-1471. ; 27:2, s. 234-243
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Tidskriftsartikel (refereegranskat)abstract
- An association between low serum vitamin D levels and poorer melanoma survival has been reported. We have studied inheritance of a polymorphism of the GC gene, rs2282679, coding for the vitamin D-binding protein, which is associated with lower serum levels of vitamin D, in a meta-analysis of 3137 melanoma patients. The aim was to investigate evidence for a causal relationship between vitamin D and outcome (Mendelian randomization). The variant was not associated with reduced overall survival (OS) in the UK cohort, per-allele hazard ratio (HR) for death 1.23 (95% confidence interval (CI) 0.93, 1.64). In the smaller cohorts, HR in OS analysis was 1.07 (95% CI 0.88, 1.3) and for all cohorts combined, HR for OS was 1.09 (95% CI 0.93, 1.29). There was evidence of increased melanoma-specific deaths in the seven cohorts for which these data were available. The lack of unequivocal findings despite the large sample size illustrates the difficulties of implementing Mendelian randomization.
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| 47. |
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| 48. |
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| 49. |
- De Moor, J. M., et al.
(författare)
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Turmoil at Turrialba Volcano (Costa Rica): Degassing and eruptive processes inferred from high-frequency gas monitoring
- 2016
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Ingår i: Journal of Geophysical Research. - : American Geophysical Union (AGU). - 0148-0227 .- 2156-2202 .- 2169-9313. ; 121:8, s. 5761-5775
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Tidskriftsartikel (refereegranskat)abstract
- Eruptive activity at Turrialba Volcano (Costa Rica) has escalated significantly since 2014, causing airport and school closures in the capital city of San Jose. Whether or not new magma is involved in the current unrest seems probable but remains a matter of debate as ash deposits are dominated by hydrothermal material. Here we use high-frequency gas monitoring to track the behavior of the volcano between 2014 and 2015 and to decipher magmatic versus hydrothermal contributions to the eruptions. Pulses of deeply derived CO2-rich gas (CO2/S-total>4.5) precede explosive activity, providing a clear precursor to eruptive periods that occurs up to 2weeks before eruptions, which are accompanied by shallowly derived sulfur-rich magmatic gas emissions. Degassing modeling suggests that the deep magmatic reservoir is similar to 8-10km deep, whereas the shallow magmatic gas source is at similar to 3-5km. Two cycles of degassing and eruption are observed, each attributed to pulses of magma ascending through the deep reservoir to shallow crustal levels. The magmatic degassing signals were overprinted by a fluid contribution from the shallow hydrothermal system, modifying the gas compositions, contributing volatiles to the emissions, and reflecting complex processes of scrubbing, displacement, and volatilization. H2S/SO2 varies over 2 orders of magnitude through the monitoring period and demonstrates that the first eruptive episode involved hydrothermal gases, whereas the second did not. Massive degassing (>3000T/d SO2 and H2S/SO2>1) followed, suggesting boiling off of the hydrothermal system. The gas emissions show a remarkable shift to purely magmatic composition (H2S/SO2
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| 50. |
- De Moor, K., et al.
(författare)
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Influence of high ambient illuminance and display luminance on readability and subjective preference
- 2015
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Ingår i: Proceedings of SPIE - The International Society for Optical Engineering. - Bellingham, WA, USA : SPIE. - 9781628414844
-
Konferensbidrag (refereegranskat)abstract
- Many devices, such as tablets, smartphones, notebooks, fixed and portable navigation systems are used on a (nearly) daily basis, both in in- and outdoor environments. It is often argued that contextual factors, such as the ambient illuminance in relation to characteristics of the display (e.g., surface treatment, screen reflectance, display luminance...) may have a strong influence on the use of such devices and corresponding user experiences. However, the current understanding of these influence factors is still rather limited. In this work, we therefore focus in particular on the impact of lighting and display luminance on readability, visual performance, subjective experience and preference. A controlled lab study (N=18) with a within-subjects design was performed to evaluate two car displays (one glossy and one matte display) in conditions that simulate bright outdoor lighting conditions. Four ambient luminance levels and three display luminance settings were combined into 7 experimental conditions. More concretely, we investigated for each display: (1) whether and how readability and visual performance varied with the different combinations of ambient luminance and display luminance and (2) whether and how they influenced the subjective experience (through self-reported valence, annoyance, visual fatigue) and preference. The results indicate a limited, yet negative influence of increased ambient luminance and reduced contrast on visual performance and readability for both displays. Similarly, we found that the self-reported valence decreases and annoyance and visual fatigue increase as the contrast ratio decreases and ambient luminance increases. Overall, the impact is clearer for the matte display than for the glossy display.
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