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Sökning: WFRF:(Souto R)

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1.
  • Kanai, M, et al. (författare)
  • 2023
  • swepub:Mat__t
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3.
  • Algaba, Juan-Carlos, et al. (författare)
  • Broadband Multi-wavelength Properties of M87 during the 2017 Event Horizon Telescope Campaign
  • 2021
  • Ingår i: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8213 .- 2041-8205. ; 911:1
  • Forskningsöversikt (refereegranskat)abstract
    • In 2017, the Event Horizon Telescope (EHT) Collaboration succeeded in capturing the first direct image of the center of the M87 galaxy. The asymmetric ring morphology and size are consistent with theoretical expectations for a weakly accreting supermassive black hole of mass ∼6.5 × 109 M o˙. The EHTC also partnered with several international facilities in space and on the ground, to arrange an extensive, quasi-simultaneous multi-wavelength campaign. This Letter presents the results and analysis of this campaign, as well as the multi-wavelength data as a legacy data repository. We captured M87 in a historically low state, and the core flux dominates over HST-1 at high energies, making it possible to combine core flux constraints with the more spatially precise very long baseline interferometry data. We present the most complete simultaneous multi-wavelength spectrum of the active nucleus to date, and discuss the complexity and caveats of combining data from different spatial scales into one broadband spectrum. We apply two heuristic, isotropic leptonic single-zone models to provide insight into the basic source properties, but conclude that a structured jet is necessary to explain M87's spectrum. We can exclude that the simultaneous γ-ray emission is produced via inverse Compton emission in the same region producing the EHT mm-band emission, and further conclude that the γ-rays can only be produced in the inner jets (inward of HST-1) if there are strongly particle-dominated regions. Direct synchrotron emission from accelerated protons and secondaries cannot yet be excluded.
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4.
  • Adams, C. B., et al. (författare)
  • Observation of the Gamma-Ray Binary HESS J0632+057 with the HESS, MAGIC, and VERITAS Telescopes
  • 2021
  • Ingår i: Astrophysical Journal. - : Institute of Physics Publishing (IOPP). - 0004-637X .- 1538-4357. ; 923:2
  • Tidskriftsartikel (refereegranskat)abstract
    • The results of gamma-ray observations of the binary system HESS J0632 + 057 collected during 450 hr over 15 yr, between 2004 and 2019, are presented. Data taken with the atmospheric Cherenkov telescopes H.E.S.S., MAGIC, and VERITAS at energies above 350 GeV were used together with observations at X-ray energies obtained with Swift-XRT, Chandra, XMM-Newton, NuSTAR, and Suzaku. Some of these observations were accompanied by measurements of the H alpha emission line. A significant detection of the modulation of the very high-energy gamma-ray fluxes with a period of 316.7 +/- 4.4 days is reported, consistent with the period of 317.3 +/- 0.7 days obtained with a refined analysis of X-ray data. The analysis of data from four orbital cycles with dense observational coverage reveals short-timescale variability, with flux-decay timescales of less than 20 days at very high energies. Flux variations observed over a timescale of several years indicate orbit-to-orbit variability. The analysis confirms the previously reported correlation of X-ray and gamma-ray emission from the system at very high significance, but cannot find any correlation of optical H alpha parameters with fluxes at X-ray or gamma-ray energies in simultaneous observations. The key finding is that the emission of HESS J0632 + 057 in the X-ray and gamma-ray energy bands is highly variable on different timescales. The ratio of gamma-ray to X-ray flux shows the equality or even dominance of the gamma-ray energy range. This wealth of new data is interpreted taking into account the insufficient knowledge of the ephemeris of the system, and discussed in the context of results reported on other gamma-ray binary systems.
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5.
  • Abdalla, H., et al. (författare)
  • HESS and MAGIC observations of a sudden cessation of a very-high-energy gamma-ray flare in PKS 1510-089 in May 2016
  • 2021
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 648
  • Tidskriftsartikel (refereegranskat)abstract
    • The flat spectrum radio quasar (FSRQ) PKS 1510-089 is known for its complex multiwavelength behaviour and it is one of only a few FSRQs detected in very-high-energy (VHE, E>100 GeV) gamma rays. The VHE gamma -ray observations with H.E.S.S. and MAGIC in late May and early June 2016 resulted in the detection of an unprecedented flare, which revealed, for the first time, VHE gamma -ray intranight variability for this source. While a common variability timescale of 1.5 h has been found, there is a significant deviation near the end of the flare, with a timescale of similar to 20 min marking the cessation of the event. The peak flux is nearly two orders of magnitude above the low-level emission. For the first time, a curvature was detected in the VHE gamma -ray spectrum of PKS 1510-089, which can be fully explained by the absorption on the part of the extragalactic background light. Optical R-band observations with ATOM revealed a counterpart of the gamma -ray flare, even though the detailed flux evolution differs from the VHE gamma -ray light curve. Interestingly, a steep flux decrease was observed at the same time as the cessation of the VHE gamma -ray flare. In the high-energy (HE, E> 100 MeV) gamma -ray band, only a moderate flux increase was observed with Fermi-LAT, while the HE gamma -ray spectrum significantly hardens up to a photon index of 1.6. A search for broad-line region (BLR) absorption features in the gamma -ray spectrum indicates that the emission region is located outside of the BLR. Radio very-long-baseline interferometry observations reveal a fast-moving knot interacting with a standing jet feature around the time of the flare. As the standing feature is located similar to 50 pc from the black hole, the emission region of the flare may have been located at a significant distance from the black hole. If this is indeed a true correlation, the VHE gamma rays must have been produced far down in the jet, where turbulent plasma crosses a standing shock.
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7.
  • Veres, P., et al. (författare)
  • Observation of inverse Compton emission from a long gamma-ray burst
  • 2019
  • Ingår i: Nature. - : NATURE PUBLISHING GROUP. - 0028-0836 .- 1476-4687. ; 575:7783, s. 459-
  • Tidskriftsartikel (refereegranskat)abstract
    • Long-duration gamma-ray bursts (GRBs) originate from ultra-relativistic jets launched from the collapsing cores of dying massive stars. They are characterized by an initial phase of bright and highly variable radiation in the kiloelectron volt-to-mega electronvoltband, which is probably produced within the jet and lasts from milliseconds to minutes, known as the prompt emission(1,2). Subsequently, the interaction of the jet with the surrounding medium generates shock waves that are responsible for the afterglow emission, which lasts from days to months and occurs over a broad energy range from the radio to the gigaelectronvolt bands(1-6). The afterglow emission is generally well explained as synchrotron radiation emitted by electrons accelerated by the external shock(7-9). Recently, intense long-lasting emission between 0.2 and 1 teraelectronvolts was observed from GRB 190114C(10,11). Here we report multifrequency observations of GRB 190114C, and study the evolution in time of the GRB emission across 17 orders of magnitude in energy, from 5 x 10(-6) to 10(12) electronvolts. We find that the broadband spectral energy distribution is double-peaked, with the teraelectronvolt emission constituting a distinct spectral component with power comparable to the synchrotron component. This component is associated with the afterglow and is satisfactorily explained by inverse Compton up-scattering of synchrotron photons by high-energy electrons. We find that the conditions required to account for the observed teraelectronvolt component are typical for GRBs, supporting the possibility that inverse Compton emission is commonly produced in GRBs.
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8.
  • Abolfathi, Bela, et al. (författare)
  • 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
  • Ingår i: Astrophysical Journal Supplement Series. - : IOP Publishing Ltd. - 0067-0049 .- 1538-4365. ; 235:2
  • Tidskriftsartikel (refereegranskat)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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9.
  • Blanton, Michael R., et al. (författare)
  • Sloan Digital Sky Survey IV : Mapping the Milky Way, Nearby Galaxies, and the Distant Universe
  • 2017
  • Ingår i: Astronomical Journal. - : IOP Publishing Ltd. - 0004-6256 .- 1538-3881. ; 154:1
  • Tidskriftsartikel (refereegranskat)abstract
    • We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and. high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median z similar to 0.03). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between z similar to 0.6 and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs. and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the. Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July.
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10.
  • Sales-Silva, J. V., et al. (författare)
  • A Perspective on the Milky Way Bulge Bar as Seen from the Neutron-capture Elements Cerium and Neodymium with APOGEE
  • 2024
  • Ingår i: Astrophysical Journal. - : Institute of Physics Publishing (IOPP). - 0004-637X .- 1538-4357. ; 965:2
  • Tidskriftsartikel (refereegranskat)abstract
    • This study probes the chemical abundances of the neutron-capture elements cerium and neodymium in the inner Milky Way from an analysis of a sample of similar to 2000 stars in the Galactic bulge bar spatially contained within divided by X-Gal divided by < 5 kpc, divided by Y-Gal divided by < 3.5 kpc, and divided by Z(Gal)divided by < 1 kpc, and spanning metallicities between -2.0 less than or similar to [Fe/H] less than or similar to +0.5. We classify the sample stars into low- or high-[Mg/Fe] populations and find that, in general, values of [Ce/Fe] and [Nd/Fe] increase as the metallicity decreases for the low- and high-[Mg/Fe] populations. Ce abundances show a more complex variation across the metallicity range of our bulge-bar sample when compared to Nd, with the r-process dominating the production of neutron-capture elements in the high-[Mg/Fe] population ([Ce/Nd] < 0.0). We find a spatial chemical dependence of Ce and Nd abundances for our sample of bulge-bar stars, with low- and high-[Mg/Fe] populations displaying a distinct abundance distribution. In the region close to the center of the MW, the low-[Mg/Fe] population is dominated by stars with low [Ce/Fe], [Ce/Mg], [Nd/Mg], [Nd/Fe], and [Ce/Nd] ratios. The low [Ce/Nd] ratio indicates a significant contribution in this central region from r-process yields for the low-[Mg/Fe] population. The chemical pattern of the most metal-poor stars in our sample suggests an early chemical enrichment of the bulge dominated by yields from core-collapse supernovae and r-process astrophysical sites, such as magnetorotational supernovae.
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11.
  • Sales-Silva, J. V., et al. (författare)
  • Exploring the S-process History in the Galactic Disk : Cerium Abundances and Gradients in Open Clusters from the OCCAM/APOGEE Sample
  • 2022
  • Ingår i: Astrophysical Journal. - : Institute of Physics (IOP). - 0004-637X .- 1538-4357. ; 926:2
  • Tidskriftsartikel (refereegranskat)abstract
    • The APOGEE Open Cluster Chemical Abundances and Mapping survey is used to probe the chemical evolution of the s-process element cerium in the Galactic disk. Cerium abundances were derived from measurements of Ce ii lines in the APOGEE spectra using the Brussels Automatic Code for Characterizing High Accuracy Spectra in 218 stars belonging to 42 open clusters. Our results indicate that, in general, for ages < 4 Gyr, younger open clusters have higher [Ce/Fe] and [Ce/α-element] ratios than older clusters. In addition, metallicity segregates open clusters in the [Ce/X]–age plane (where X can be H, Fe, or the α-elements O, Mg, Si, or Ca). These metallicity-dependent relations result in [Ce/Fe] and [Ce/α] ratios with ages that are not universal clocks. Radial gradients of [Ce/H] and [Ce/Fe] ratios in open clusters, binned by age, were derived for the first time, with d[Ce/H]/dRGC being negative, while d[Ce/Fe]/dRGC is positive. [Ce/H] and [Ce/Fe] gradients are approximately constant over time, with the [Ce/Fe] gradient becoming slightly steeper, changing by ∼+0.009 dex kpc−1 Gyr−1. Both the [Ce/H] and [Ce/Fe] gradients are shifted to lower values of [Ce/H] and [Ce/Fe] for older open clusters. The chemical pattern of Ce in open clusters across the Galactic disk is discussed within the context of s-process yields from asymptotic giant branch (AGB) stars, gigayear time delays in Ce enrichment of the interstellar medium, and the strong dependence of Ce nucleosynthesis on the metallicity of its AGB stellar sources.
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12.
  • Loaiza-Tacuri, V., et al. (författare)
  • Chemical abundances of the young inner-disc open cluster NGC 6705 observed by APOGEE : sodium-rich and not α-enhanced
  • 2023
  • Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press. - 0035-8711 .- 1365-2966. ; 526:2, s. 2378-2393
  • Tidskriftsartikel (refereegranskat)abstract
    • Previous results in the literature have found the young inner-disc open cluster NGC 6705 to be mildly alpha-enhanced. We examined this possibility via an independent chemical abundance analysis for 11 red-giant members of NGC 6705. The analysis is based on near-infrared APOGEE spectra and relies on LTE calculations using spherical model atmospheres and radiative transfer. We find a mean cluster metallicity of [Fe / H] = +0.13 +/- 0.04, indicating that NGC 6705 is metal-rich, as may be expected for a young inner-disc cluster. The mean alpha-element abundance relative to iron is , which is not at odds with expectations from general Galactic abundance trends. NGC 6705 also provides important probes for studying stellar mixing, given its turn-off mass of M similar to 3.3M(circle dot). Its red giants have low C-12 abundances ([C-12/Fe] = -0.16) and enhanced N-14 abundances ([N-14/Fe] = +0.51), which are key signatures of the first dredge-up on the red giant branch. An additional signature of dredge-up was found in the Na abundances, which are enhanced by [Na/Fe] = +0.29, with a very small non-LTE correction. The O-16 and Al abundances are found to be near-solar. All of the derived mixing-sensitive abundances are in agreement with stellar models of approximately 3.3M(circle dot) evolving along the red giant branch and onto the red clump. As found in young open clusters with similar metallicities, NGC 6705 exhibits a mild excess in the s-process element cerium with [Ce/Fe] = +0.13 +/- 0.07.
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13.
  • Acciari, V.A., et al. (författare)
  • Monitoring the magnetar SGR 1935+2154 with the MAGIC telescopes
  • 2022
  • Ingår i: Proceedings of Science. - 1824-8039. ; 395
  • Konferensbidrag (refereegranskat)abstract
    • The Galactic magnetar SGR 1935+2154 was associated with a bright, millisecond-timescale fast radio burst (FRB) which occured in April 2020, during a flaring episode. This was the first time an FRB was unequivocally associated with a Galactic source, and the first FRB for which the nature of the emitting source was identified. Moreover, it was the first FRB with a counterpart at another wavelength correlated in time, an atypical, hard X-ray burst, which provides clear evidence for accompanying non-thermal processes. The MAGIC Telescopes are Imaging Air Cherenkov Telescopes (IACTs) sensitive to very-high-energy (VHE, E>100 GeV) gamma rays. Located at the center of the camera lies the MAGIC Central pixel, a single fully-modified photosensor-toreadout chain to measure millisecond-duration optical signals, displaying a maximum sensitivity at a wavelength of 350 nm. This allows MAGIC to operate simultaneously both as a VHE gammaray and a fast optical telescope. The MAGIC telescopes have monitored SGR 1935+2154 in a multiwavelength campaign involving X-ray, radio and optical facilities. In this contribution, we will show the results on the search for the VHE counterpart of the first SGR-FRB source in this multiwavelength context, as well as the search for fast optical bursts with the MAGIC Central Pixel.
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14.
  • Sennblad, Bengt, et al. (författare)
  • Genome- wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels
  • 2017
  • Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 26:3, s. 637-649
  • Tidskriftsartikel (refereegranskat)abstract
    • Coagulation factor XI (FXI) has become increasingly interesting for its role in pathogenesis of thrombosis. While elevated plasma levels of FXI have been associated with venous thromboembolism and ischemic stroke, its deficiency is associated with mild bleeding. We aimed to determine novel genetic and post-transcriptional plasma FXI regulators. We performed a genome-wide association study (GWAS) for plasma FXI levels, using novel data imputed to the 1000 Genomes reference panel. Individual GWAS analyses, including a total of 16,169 European individuals from the ARIC, GHS, MARTHA and PROCARDIS studies, were meta-analysed and further replicated in 2,045 individuals from the F5L family, GAIT2 and MEGA studies. Additional association with activated partial thromboplastin time (aPTT) was tested for the top SNPs. In addition, a study on the effect of miRNA on FXI regulation was performed using in silico prediction tools and in vitro luciferase assays. Three loci showed robust, replicating association with circulating FXI levels: KNG1 (rs710446, P-value = 2.07 x 10(-302)), F11 (rs4253417, P-value = 2.86 x 10(-193)), and a novel association in GCKR (rs780094, P-value = 3.56 x 10(-09)), here for the first time implicated in FXI regulation. The two first SNPs (rs710446 and rs4253417) also associated with aPTT. Conditional and haplotype analyses demonstrated a complex association signal, with additional novel SNPs modulating plasma FXI levels in both the F11 and KNG1 loci. Finally, eight miRNAs were predicted to bind F11 mRNA. Over-expression of either miR-145 or miR-181 significantly reduced the luciferase activity in cells transfected with a plasmid containing FXI-3'UTR. These results should open the door to new therapeutic targets for thrombosis prevention.
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15.
  • Ballantyne, Kaye N., et al. (författare)
  • Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
  • 2014
  • Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 35:8, s. 1021-1032
  • Tidskriftsartikel (refereegranskat)abstract
    • Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
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16.
  • Barbuy, B., et al. (författare)
  • Light elements Na and Al in 58 bulge spheroid stars from APOGEE
  • 2023
  • Ingår i: Monthly Notices of the Royal Astronomical Society. - 0035-8711. ; 526:2, s. 2365-2376
  • Tidskriftsartikel (refereegranskat)abstract
    • We identified a sample of 58 candidate stars with metallicity [Fe/H]-0.8 that likely belong to the old bulge spheroid stellar population, and analyse their Na and Al abundances from Apache Point Observatory Galactic Evolution Experiment (APOGEE) spectra. In a previous work, we inspected APOGEE-Stellar Parameter and Chemical Abundance Pipeline abundances of C, N, O, Mg, Al, Ca, Si, and Ce in this sample. Regarding Na lines, one of them appears very strong in about 20 per cent of the sample stars, but it is not confirmed by other Na lines, and can be explained by sky lines, which affect the reduced spectra of stars in a certain radial velocity range. The Na abundances for 15 more reliable cases were taken into account. Al lines in the H band instead appear to be very reliable. Na and Al exhibit a spread in abundances, whereas no spread in N abundances is found, and we found no correlation between them, indicating that these stars could not be identified as second-generation stars that originated in globular clusters. We carry out the study of the behaviour of Na and Al in our sample of bulge stars and literature data by comparing them with chemodynamical evolution model suitable for the Galactic bulge. The Na abundances show a large spread, and the chemodynamical models follow the main data, whereas for aluminum instead, the models reproduce very satisfactorily the nearly secondary-element behaviour of aluminum in the metallicity range below [Fe/H]-1.0. For the lower-metallicity end ([Fe/H <-2.5), hypernovae are assumed to be the main contributor to yields.
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17.
  • Blanco, L, et al. (författare)
  • Traumatic Events in Dual Disorders: Prevalence and Clinical Characteristics
  • 2020
  • Ingår i: Journal of clinical medicine. - : MDPI AG. - 2077-0383. ; 9:8
  • Tidskriftsartikel (refereegranskat)abstract
    • Psychological trauma has been identified in substance use disorders (SUD) as a major etiological risk factor. However, detailed and systematic data about the prevalence and types of psychological trauma in dual disorders have been scarce to date. In this study, 150 inpatients were recruited and cross-sectionally screened on their substance use severity, psychological trauma symptoms, comorbidities, and clinical severity. One hundred patients fulfilled criteria for a dual disorder, while 50 patients were diagnosed with only SUD. Ninety-four percent of the whole sample suffered from at least one lifetime traumatic event. The prevalence rates of Posttraumatic Stress Disorder diagnosis for dual disorder and only SUD was around 20% in both groups; however, patients with dual disorder presented more adverse events, more childhood trauma, more dissociative symptoms, and a more severe clinical profile than patients with only SUD. Childhood maltreatment can also serve as a predictor for developing a dual disorder diagnosis and as a risk factor for developing a more complex and severe clinical profile. These data challenge our current clinical practice in the treatment of patients suffering from dual disorder or only SUD diagnosis and favor the incorporation of an additional trauma-focused therapy in this population. This may improve the prognosis and the course of the illness in these patients.
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18.
  • Cruz, Raquel, et al. (författare)
  • Novel genes and sex differences in COVID-19 severity
  • 2022
  • Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 31:22, s. 3789-3806
  • Tidskriftsartikel (refereegranskat)abstract
    • Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10−8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10−22 and P = 8.1 × 10−12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10−8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10−8) and ARHGAP33 (P = 1.3 × 10−8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10−8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.
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21.
  • Helgadottir, Anna, et al. (författare)
  • Apolipoprotein(a) Genetic Sequence Variants Associated With Systemic Atherosclerosis and Coronary Atherosclerotic Burden But Not With Venous Thromboembolism
  • 2012
  • Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097 .- 1558-3597. ; 60:8, s. 722-729
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives The purpose of this study is investigate the effects of variants in the apolipoprotein(a) gene (LPA) on vascular diseases with different atherosclerotic and thrombotic components. Background It is unclear whether the LPA variants rs10455872 and rs3798220, which correlate with lipoprotein(a) levels and coronary artery disease (CAD), confer susceptibility predominantly via atherosclerosis or thrombosis. Methods The 2 LPA variants were combined and examined as LPA scores for the association with ischemic stroke (and TOAST [Trial of Org 10172 in Acute Stroke Treatment] subtypes) (effective sample size [n(e)] = 9,396); peripheral arterial disease (n(e) = 5,215); abdominal aortic aneurysm (ne = 4,572); venous thromboembolism (ne = 4,607); intracranial aneurysm (ne = 1,328); CAD (n(e) = 12,716), carotid intima-media thickness (n = 3,714), and angiographic CAD severity (n = 5,588). Results LPA score was associated with ischemic stroke subtype large artery atherosclerosis (odds ratio [OR]: 1.27; p = 6.7 X 10(-4)), peripheral artery disease (OR: 1.47; p = 2.9 x 10(-14)), and abdominal aortic aneurysm (OR: 1.23; p = 6.0 x 10(-5)), but not with the ischemic stroke subtypes cardioembolism (OR: 1.03; p = 0.69) or small vessel disease (OR: 1.06; p = 0.52). Although the LPA variants were not associated with carotid intima-media thickness, they were associated with the number of obstructed coronary vessels (p = 4.8 x 10(-12)). Furthermore, CAD cases carrying LPA risk variants had increased susceptibility to atherosclerotic manifestations outside of the coronary tree (OR: 1.26; p = 0.0010) and had earlier onset of CAD (-1.58 years/allele; p = 8.2 x 10(-8)) than CAD cases not carrying the risk variants. There was no association of LPA score with venous thromboembolism (OR: 0.97; p = 0.63) or intracranial aneurysm (OR: 0.85; p = 0.15). Conclusions LPA sequence variants were associated with atherosclerotic burden, but not with primarily thrombotic phenotypes. (J Am Coll Cardiol 2012; 60: 722-9) (C) 2012 by the American College of Cardiology Foundation
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23.
  • Rodriguez-Martin, B, et al. (författare)
  • Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
  • 2020
  • Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 52:3, s. 306-
  • Tidskriftsartikel (refereegranskat)abstract
    • About half of all cancers have somatic integrations of retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer genomes from 38 histological cancer subtypes within the framework of the Pan-Cancer Analysis of Whole Genomes (PCAWG) project. We identified 19,166 somatically acquired retrotransposition events, which affected 35% of samples and spanned a range of event types. Long interspersed nuclear element (LINE-1; L1 hereafter) insertions emerged as the first most frequent type of somatic structural variation in esophageal adenocarcinoma, and the second most frequent in head-and-neck and colorectal cancers. Aberrant L1 integrations can delete megabase-scale regions of a chromosome, which sometimes leads to the removal of tumor-suppressor genes, and can induce complex translocations and large-scale duplications. Somatic retrotranspositions can also initiate breakage–fusion–bridge cycles, leading to high-level amplification of oncogenes. These observations illuminate a relevant role of 22 L1 retrotransposition in remodeling the cancer genome, with potential implications for the development of human tumors.
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24.
  • Souto, D., et al. (författare)
  • Chemical Abundances of M-Dwarfs from the Apogee Survey. I. The Exoplanet Hosting Stars Kepler-138 and Kepler-186
  • 2017
  • Ingår i: Astrophysical Journal. - : Institute of Physics Publishing (IOPP). - 0004-637X .- 1538-4357. ; 835:2
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the first detailed chemical abundance analysis of the exoplanet-hosting M-dwarf stars Kepler-138 and Kepler-186 from the analysis of high-resolution (R similar to 22,500) H-band spectra from the SDSS-IV-APOGEE survey. Chemical abundances of 13 elements-C, O, Na, Mg, Al, Si, K, Ca, Ti, V, Cr, Mn, and Fe-are extracted from the APOGEE spectra of these early M-dwarfs via spectrum syntheses computed with an improved line list that takes into account H2O and FeH lines. This paper demonstrates that APOGEE spectra can be analyzed to determine detailed chemical compositions of M-dwarfs. Both exoplanet-hosting M-dwarfs display modest sub-solar metallicities: [Fe/H](Kepler-138) = -0.09 +/- 0.09 dex and [Fe/H](Kepler-186) = -0.08 +/- 0.10 dex. The measured metallicities resulting from this high-resolution analysis are found to be higher by similar to 0.1-0.2 dex than previous estimates from lower-resolution spectra. The C/O ratios obtained for the two planet-hosting stars are near-solar, with values of 0.55 +/- 0.10 for Kepler-138 and 0.52 +/- 0.12 for Kepler-186. Kepler-186 exhibits a marginally enhanced [Si/Fe] ratio.
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25.
  • Souto, Diogo, et al. (författare)
  • Chemical Abundances of Main-sequence, Turnoff, Subgiant, and Red Giant Stars from APOGEE Spectra. II. Atomic Diffusion in M67 Stars
  • 2019
  • Ingår i: Astrophysical Journal. - : Institute of Physics Publishing (IOPP). - 0004-637X .- 1538-4357. ; 874:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Chemical abundances for 15 elements (C, N, O, Na, Mg, Al, Si, K, Ca, Ti, V, Cr, Mn, Fe, and Ni) are presented for 83 stellar members of the 4 Gyr old solar-metallicity open cluster M67. The sample contains stars spanning a wide range of evolutionary phases, from G dwarfs to red clump stars. The abundances were derived from near-IR (lambda 1.5-1.7 mu m) high-resolution spectra (R = 22,500) from the SDSS-IV/Apache Point Observatory Galactic Evolution Experiment (APOGEE) survey. A 1D local thermodynamic equilibrium abundance analysis was carried out using the APOGEE synthetic spectral libraries, via chi(2) minimization of the synthetic and observed spectra with the qASPCAP code. We found significant abundance differences (similar to 0.05-0.30 dex) between the M67 member stars as a function of the stellar mass (or position on the Hertzsprung-Russell diagram), where the abundance patterns exhibit a general depletion (in [X/H]) in stars at the main-sequence turnoff. The amount of the depletion is different for different elements. We find that atomic diffusion models provide, in general, good agreement with the abundance trends for most chemical species, supporting recent studies indicating that measurable atomic diffusion operates in M67 stars.
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