| 1. |
- Helbig, K. L., et al.
(författare)
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
- 2018
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 103:5, s. 666-678
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Tidskriftsartikel (refereegranskat)abstract
- Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the alpha(1)-subunit of the voltage-gated Ca(V)2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed Ca(V)2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders.
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| 2. |
- Shimwell, T. W., et al.
(författare)
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The LOFAR Two-metre Sky Survey: II. First data release
- 2019
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 622
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Forskningsöversikt (refereegranskat)abstract
- The LOFAR Two-metre Sky Survey (LoTSS) is an ongoing sensitive, high-resolution 120-168 MHz survey of the entire northern sky for which observations are now 20% complete. We present our first full-quality public data release. For this data release 424 square degrees, or 2% of the eventual coverage, in the region of the HETDEX Spring Field (right ascension 10h45m00s to 15h30m00s and declination 45°00′00″ to 57°00′00″) were mapped using a fully automated direction-dependent calibration and imaging pipeline that we developed. A total of 325 694 sources are detected with a signal of at least five times the noise, and the source density is a factor of ∼10 higher than the most sensitive existing very wide-area radio-continuum surveys. The median sensitivity is S144 MHz = 71 μJy beam -1 and the point-source completeness is 90% at an integrated flux density of 0.45 mJy. The resolution of the images is 6″ and the positional accuracy is within 0.2″. This data release consists of a catalogue containing location, flux, and shape estimates together with 58 mosaic images that cover the catalogued area. In this paper we provide an overview of the data release with a focus on the processing of the LOFAR data and the characteristics of the resulting images. In two accompanying papers we provide the radio source associations and deblending and, where possible, the optical identifications of the radio sources together with the photometric redshifts and properties of the host galaxies. These data release papers are published together with a further ∼20 articles that highlight the scientific potential of LoTSS.
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| 3. |
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| 4. |
- Thompson, A. M., et al.
(författare)
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MeerGAL: the MeerKAT galactic plane survey
- 2016
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Ingår i: Proceedings of Science. - 1824-8039.
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Konferensbidrag (refereegranskat)abstract
- Radio surveys of the Milky Way galaxy have transformed our understanding of star formation and stellar evolution. However, due to strong dependence of “survey cost” on frequency most large area surveys have so far been carried out at low frequencies (∼ a few GHz). These surveys select against dense plasma as the free-free turnover frequency scales directly with electron density which means that there are significant biases against the detection of the youngest and densest HII regions, Young Stellar Objects, jets, winds and Planetary Nebulae. Here we describe the MeerKAT Large Project MeerGAL, which aims to address this issue by making the first sensitive high frequency, high resolution multi-epoch survey of the Galactic Plane. Together with its Northern Hemisphere sister project KuGARS (the Ku-band Galactic Reconnaissance Survey), MeerGAL will revolutionise the study of massive star formation and stellar evolution, Galactic structure, and variability.
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| 5. |
- Soler, J. D., et al.
(författare)
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Histogram of oriented gradients: a technique for the study of molecular cloud formation
- 2019
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 622
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Tidskriftsartikel (refereegranskat)abstract
- We introduce the histogram of oriented gradients (HOG), a tool developed for machine vision that we propose as a new metric for the systematic characterization of spectral line observations of atomic and molecular gas and the study of molecular cloud formation models. In essence, the HOG technique takes as input extended spectral-line observations from two tracers and provides an estimate of their spatial correlation across velocity channels. We characterized HOG using synthetic observations of HI and (CO)-C-13(J = 1 -> 0) emission from numerical simulations of magnetohydrodynamic (MHD) turbulence leading to the formation of molecular gas after the collision of two atomic clouds. We found a significant spatial correlation between the two tracers in velocity channels where v(HI) approximate to v(13CO), almost independent of the orientation of the collision with respect to the line of sight. Subsequently, we used HOG to investigate the spatial correlation of the HI, from The HI/OH/recombination line survey of the inner Milky Way (THOR), and the (CO)-C-13(J = 1 -> 0) emission from the Galactic Ring Survey (GRS), toward the portion of the Galactic plane 33.degrees 75 <= l <= 35.degrees 25 and vertical bar b vertical bar <= 1.degrees 25. We found a significant spatial correlation between the two tracers in extended portions of the studied region. Although some of the regions with high spatial correlation are associated with HI self-absorption (HISA) features, suggesting that it is produced by the cold atomic gas, the correlation is not exclusive to this kind of region. The HOG results derived for the observational data indicate significant differences between individual regions: some show spatial correlation in channels around v(HI) approximate to v(13CO) while others present spatial correlations in velocity channels separated by a few kilometers per second. We associate these velocity offsets to the effect of feedback and to the presence of physical conditions that are not included in the atomic-cloud-collision simulations, such as more general magnetic field configurations, shear, and global gas infall.
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| 6. |
- Beuther, H., et al.
(författare)
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OH maser emission in the THOR survey of the northern Milky Way
- 2019
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 628
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Tidskriftsartikel (refereegranskat)abstract
- Context. OH masers trace diverse physical processes, from the expanding envelopes around evolved stars to star-forming regions or supernovae remnants. Providing a survey of the ground-state OH maser transitions in the northern hemisphere inner Milky Way facilitates the study of a broad range of scientific topics. Aims. We want to identify the ground-state OH masers at similar to 18 cm wavelength in the area covered by The HI/OH/Recombination line survey of the Milky Way (THOR). We will present a catalogue of all OH maser features and their possible associated environments. Methods. The THOR survey covers longitude and latitude ranges of 14 degrees.3 < l < 66 degrees.8 and b < +/- 1 degrees.25. All OH ground state lines (2)Pi(3/2) (J = 3/2) at 1612 (F = 1-2), 1665 (F = 1-1), 1667 (F = 2-2) and 1720 MHz (F = 2-1) have been observed, employing the Very Large Array (VLA) in its C configuration. The spatial resolution of the data varies between 12.5 '' and 19 '', the spectral resolution is 1.5 km s(-1), and the rms sensitivity of the data is similar to 10 mJy beam(-1) per channel. Results. We identify 1585 individual maser spots (corresponding to single spectral features) distributed over 807 maser sites (regions of size similar to 10(3)-10(4) AU). Based on different criteria from spectral profiles to literature comparison, we try to associate the maser sites with astrophysical source types. Approximately 51% of the sites exhibit the double-horned 1612 MHz spectra typically emitted from the expanding shells of evolved stars. The separations of the two main velocity features of the expanding shells typically vary between 22 and 38 km s(-1). In addition to this, at least 20% of the maser sites are associated with star-forming regions. While the largest fraction of 1720 MHz maser spots (21 out of 53) is associated with supernova remnants, a significant fraction of the 1720 MHz maser spots (17) are also associated with star-forming regions. We present comparisons to the thermal (CO)-C-13(1-0) emission as well as to other surveys of class II CH3OH and H2O maser emission. The catalogue attempts to present associations to astrophysical sources where available, and the full catalogue is available in electronic form. Conclusions. This OH maser catalogue presents a unique resource of stellar and interstellar masers in the northern hemisphere. It provides the basis for a diverse range of follow-up studies from envelopes around evolved stars to star-forming regions and Supernova remnants.
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| 7. |
- Hebestreit, H., et al.
(författare)
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Cardiopulmonary exercise testing provides additional prognostic information in cystic fibrosis
- 2019
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Ingår i: American Journal of Respiratory and Critical Care Medicine. - 1073-449X. ; 199:8, s. 987-995
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Tidskriftsartikel (refereegranskat)abstract
- Rationale: The prognostic value of cardiopulmonary exercise testing (CPET) for survival in cystic fibrosis (CF) in the context of current clinical management, when controlling for other known prognostic factors, is unclear. Objectives: To determine the prognostic value of CPET-derived measures beyond peak oxygen uptake (VO 2 peak) following rigorous adjustment for other predictors. Methods: Data from 10 CF centers in Australia, Europe, and North America were collected retrospectively. A total of 510 patients completed a cycle CPET between January 2000 and December 2007, of which 433 fulfilled the criteria for a maximal effort. Time to death/lung transplantation was analyzed using Cox proportional hazards regression. In addition, phenotyping using hierarchical Ward clustering was performed to characterize high-risk subgroups. Measurements and Main Results: Cox regression showed, even after adjustment for sex, FEV1% predicted, body mass index (z-score), age at CPET, Pseudomonas aeruginosa status, and CF-related diabetes as covariates in the model, that VO 2 peak in % predicted (hazard ratio [HR], 0.964; 95% confidence interval [CI], 0.944-0.986), peak work rate (% predicted; HR, 0.969; 95% CI, 0.951-0.988), ventilatory equivalent for oxygen (HR, 1.085; 95% CI, 1.041-1.132), and carbon dioxide (HR, 1.060; 95% CI, 1.007-1.115) (all P < 0.05) were significant predictors of death or lung transplantation at 10-year follow-up. Phenotyping revealed that CPET-derived measures were important for clustering. We identified a high-risk cluster characterized by poor lung function, nutritional status, and exercise capacity. Conclusions: CPET provides additional prognostic information to established predictors of death/lung transplantation in CF. High-risk patients may especially benefit from regular monitoring of exercise capacity and exercise counseling. Copyright © 2019 by the American Thoracic Society.
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| 8. |
- Csengeri, T., et al.
(författare)
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Search for high-mass protostars with ALMA revealed up to kilo-parsec scales (SPARKS): I. Indication for a centrifugal barrier in the environment of a single high-mass envelope
- 2018
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 617
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Tidskriftsartikel (refereegranskat)abstract
- The conditions leading to the formation of the most massive O-type stars are still an enigma in modern astrophysics. To assess the physical conditions of high-mass protostars in their main accretion phase, here we present a case study of a young massive clump selected from the ATLASGAL survey, G328.2551-0.5321. The source exhibits a bolometric luminosity of 1.3 × 104L·, which allows us to estimate that its current protostellar mass lies between ∼11 and 16 M·. We show high angular resolution observations with ALMA that reach a physical scale of ∼400 au. To reveal the structure of this high-mass protostellar envelope in detail at a ∼0.17′′ resolution, we used the thermal dust continuum emission and spectroscopic information, amongst others from the CO (J = 3-2) line, which is sensitive to the high-velocity molecular outflow of the source. We also used the SiO (J = 8-7) and SO2(J = 82,6-71,7) lines, which trace shocks along the outflow, as well as several CH3OH and HC3N lines that probe the gas of the inner envelope in the closest vicinity of the protostar. Our observations of the dust continuum emission reveal a single high-mass protostellar envelope, down to our resolution limit. We find evidence for a compact, marginally resolved continuum source that is surrounded by azimuthal elongations that could be consistent with a spiral pattern. We also report on the detection of a rotational line of CH3OH within its vt= 1 torsionally excited state. This shows two bright emission peaks that are spatially offset from the dust continuum peak and exhibit a distinct velocity component ±4.5 km s-1offset from the systemic velocity of the source. Rotational diagram analysis and models based on local thermodynamic equilibrium assumption require high CH3OH column densities that reach N(CH3OH) = 1.2-2 × 1019cm-2, and kinetic temperatures of the order of 160-200 K at the position of these peaks. A comparison of their morphology and kinematics with those of the outflow component of the CO line and the SO2line suggests that the high-excitation CH3OH spots are associated with the innermost regions of the envelope. While the HC3N v7= 0 (J = 37-36) line is also detected in the outflow, the HC3N v7= 1e (J = 38-37) rotational transition within the first vibrationally excited state of the molecule shows a compact morphology. We find that the velocity shifts at the position of the observed high-excitation CH3OH spots correspond well to the expected Keplerian velocity around a central object with 15 M·consistent with the mass estimate based on the bolometric luminosity of the source. We propose a picture where the CH3OH emission peaks trace the accretion shocks around the centrifugal barrier, pinpointing the interaction region between the collapsing envelope and an accretion disc. The physical properties of the accretion disc inferred from these observations suggest a specific angular momentum several times higher than typically observed towards low-mass protostars. This is consistent with a scenario of global collapse setting on at larger scales that could carry a more significant amount of kinetic energy compared to the core-collapse models of low-mass star formation. Furthermore, our results suggest that vibrationally excited HC3N emission could be a new tracer for compact accretion discs around high-mass protostars.
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| 9. |
- Mattern, M., et al.
(författare)
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SEDIGISM: the kinematics of ATLASGAL filaments
- 2018
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 619
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Tidskriftsartikel (refereegranskat)abstract
- Analyzing the kinematics of filamentary molecular clouds is a crucial step toward understanding their role in the star formation process. Therefore, we study the kinematics of 283 filament candidates in the inner Galaxy, that were previously identified in the ATLASGAL dust continuum data. The (CO)-C-13(2 - 1) and (CO)-O-18(2 - 1) data of the SEDIGISM survey (Structure, Excitation, and Dynamics of the Inner Galactic Inter Stellar Medium) allows us to analyze the kinematics of these targets and to determine their physical properties at a resolution of 30 '' and 0.25 km s(-1). To do so, we developed an automated algorithm to identify all velocity components along the line-of-sight correlated with the ATLASGAL dust emission, and derive size, mass, and kinematic properties for all velocity components. We find two-third of the filament candidates are coherent structures in position-position-velocity space. The remaining candidates appear to be the result of a superposition of two or three filamentary structures along the line-of- sight. At the resolution of the data, on average the filaments are in agreement with Plummer-like radial density profiles with a power-law exponent of p approximate to 1.5 +/- 0.5, indicating that they are typically embedded in a molecular cloud and do not have a well-defined outer radius. Also, we find a correlation between the observed mass per unit length and the velocity dispersion of the filament of m proportional to o(v)(2). We show that this relation can be explained by a virial balance between self-gravity and pressure. Another possible explanation could be radial collapse of the filament, where we can exclude infall motions close to the free-fall velocity.
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