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1.	Ademuyiwa, Adesoji O., et al. (författare) Determinants of morbidity and mortality following emergency abdominal surgery in children in low-income and middle-income countries 2016 Ingår i: BMJ Global Health. - : BMJ Publishing Group Ltd. - 2059-7908. ; 1:4 Tidskriftsartikel (refereegranskat)abstract Background: Child health is a key priority on the global health agenda, yet the provision of essential and emergency surgery in children is patchy in resource-poor regions. This study was aimed to determine the mortality risk for emergency abdominal paediatric surgery in low-income countries globally.Methods: Multicentre, international, prospective, cohort study. Self-selected surgical units performing emergency abdominal surgery submitted prespecified data for consecutive children aged <16 years during a 2-week period between July and December 2014. The United Nation's Human Development Index (HDI) was used to stratify countries. The main outcome measure was 30-day postoperative mortality, analysed by multilevel logistic regression.Results: This study included 1409 patients from 253 centres in 43 countries; 282 children were under 2 years of age. Among them, 265 (18.8%) were from low-HDI, 450 (31.9%) from middle-HDI and 694 (49.3%) from high-HDI countries. The most common operations performed were appendectomy, small bowel resection, pyloromyotomy and correction of intussusception. After adjustment for patient and hospital risk factors, child mortality at 30 days was significantly higher in low-HDI (adjusted OR 7.14 (95% CI 2.52 to 20.23), p<0.001) and middle-HDI (4.42 (1.44 to 13.56), p=0.009) countries compared with high-HDI countries, translating to 40 excess deaths per 1000 procedures performed.Conclusions: Adjusted mortality in children following emergency abdominal surgery may be as high as 7 times greater in low-HDI and middle-HDI countries compared with high-HDI countries. Effective provision of emergency essential surgery should be a key priority for global child health agendas.
2.	Klionsky, Daniel J, et al. (författare) Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). 2016 Ingår i: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 12:1, s. 1-222 Tidskriftsartikel (refereegranskat)
3.	Naghavi, Mohsen, et al. (författare) Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013 2015 Ingår i: The Lancet. - 1474-547X .- 0140-6736. ; 385:9963, s. 117-171 Tidskriftsartikel (refereegranskat)abstract Background Up-to-date evidence on levels and trends for age-sex-specifi c all-cause and cause-specifi c mortality is essential for the formation of global, regional, and national health policies. In the Global Burden of Disease Study 2013 (GBD 2013) we estimated yearly deaths for 188 countries between 1990, and 2013. We used the results to assess whether there is epidemiological convergence across countries. Methods We estimated age-sex-specifi c all-cause mortality using the GBD 2010 methods with some refinements to improve accuracy applied to an updated database of vital registration, survey, and census data. We generally estimated cause of death as in the GBD 2010. Key improvements included the addition of more recent vital registration data for 72 countries, an updated verbal autopsy literature review, two new and detailed data systems for China, and more detail for Mexico, UK, Turkey, and Russia. We improved statistical models for garbage code redistribution. We used six different modelling strategies across the 240 causes; cause of death ensemble modelling (CODEm) was the dominant strategy for causes with sufficient information. Trends for Alzheimer's disease and other dementias were informed by meta-regression of prevalence studies. For pathogen-specifi c causes of diarrhoea and lower respiratory infections we used a counterfactual approach. We computed two measures of convergence (inequality) across countries: the average relative difference across all pairs of countries (Gini coefficient) and the average absolute difference across countries. To summarise broad findings, we used multiple decrement life-tables to decompose probabilities of death from birth to exact age 15 years, from exact age 15 years to exact age 50 years, and from exact age 50 years to exact age 75 years, and life expectancy at birth into major causes. For all quantities reported, we computed 95% uncertainty intervals (UIs). We constrained cause-specific fractions within each age-sex-country-year group to sum to all-cause mortality based on draws from the uncertainty distributions. Findings Global life expectancy for both sexes increased from 65.3 years (UI 65.0-65.6) in 1990, to 71.5 years (UI 71.0-71.9) in 2013, while the number of deaths increased from 47.5 million (UI 46.8-48.2) to 54.9 million (UI 53.6-56.3) over the same interval. Global progress masked variation by age and sex: for children, average absolute diff erences between countries decreased but relative diff erences increased. For women aged 25-39 years and older than 75 years and for men aged 20-49 years and 65 years and older, both absolute and relative diff erences increased. Decomposition of global and regional life expectancy showed the prominent role of reductions in age-standardised death rates for cardiovascular diseases and cancers in high-income regions, and reductions in child deaths from diarrhoea, lower respiratory infections, and neonatal causes in low-income regions. HIV/AIDS reduced life expectancy in southern sub-Saharan Africa. For most communicable causes of death both numbers of deaths and age-standardised death rates fell whereas for most non-communicable causes, demographic shifts have increased numbers of deaths but decreased age-standardised death rates. Global deaths from injury increased by 10.7%, from 4.3 million deaths in 1990 to 4.8 million in 2013; but age-standardised rates declined over the same period by 21%. For some causes of more than 100 000 deaths per year in 2013, age-standardised death rates increased between 1990 and 2013, including HIV/AIDS, pancreatic cancer, atrial fibrillation and flutter, drug use disorders, diabetes, chronic kidney disease, and sickle-cell anaemias. Diarrhoeal diseases, lower respiratory infections, neonatal causes, and malaria are still in the top five causes of death in children younger than 5 years. The most important pathogens are rotavirus for diarrhoea and pneumococcus for lower respiratory infections. Country-specific probabilities of death over three phases of life were substantially varied between and within regions. Interpretation For most countries, the general pattern of reductions in age-sex specifi c mortality has been associated with a progressive shift towards a larger share of the remaining deaths caused by non-communicable disease and injuries. Assessing epidemiological convergence across countries depends on whether an absolute or relative measure of inequality is used. Nevertheless, age-standardised death rates for seven substantial causes are increasing, suggesting the potential for reversals in some countries. Important gaps exist in the empirical data for cause of death estimates for some countries; for example, no national data for India are available for the past decade.
4.	Vos, Theo, et al. (författare) Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013 2015 Ingår i: The Lancet. - 1474-547X .- 0140-6736. ; 386:9995, s. 743-800 Tidskriftsartikel (refereegranskat)abstract Background Up-to-date evidence about levels and trends in disease and injury incidence, prevalence, and years lived with disability (YLDs) is an essential input into global, regional, and national health policies. In the Global Burden of Disease Study 2013 (GBD 2013), we estimated these quantities for acute and chronic diseases and injuries for 188 countries between 1990 and 2013. Methods Estimates were calculated for disease and injury incidence, prevalence, and YLDs using GBD 2010 methods with some important refinements. Results for incidence of acute disorders and prevalence of chronic disorders are new additions to the analysis. Key improvements include expansion to the cause and sequelae list, updated systematic reviews, use of detailed injury codes, improvements to the Bayesian meta-regression method (DisMod-MR), and use of severity splits for various causes. An index of data representativeness, showing data availability, was calculated for each cause and impairment during three periods globally and at the country level for 2013. In total, 35 620 distinct sources of data were used and documented to calculated estimates for 301 diseases and injuries and 2337 sequelae. The comorbidity simulation provides estimates for the number of sequelae, concurrently, by individuals by country, year, age, and sex. Disability weights were updated with the addition of new population-based survey data from four countries. Findings Disease and injury were highly prevalent; only a small fraction of individuals had no sequelae. Comorbidity rose substantially with age and in absolute terms from 1990 to 2013. Incidence of acute sequelae were predominantly infectious diseases and short-term injuries, with over 2 billion cases of upper respiratory infections and diarrhoeal disease episodes in 2013, with the notable exception of tooth pain due to permanent caries with more than 200 million incident cases in 2013. Conversely, leading chronic sequelae were largely attributable to non-communicable diseases, with prevalence estimates for asymptomatic permanent caries and tension-type headache of 2.4 billion and 1.6 billion, respectively. The distribution of the number of sequelae in populations varied widely across regions, with an expected relation between age and disease prevalence. YLDs for both sexes increased from 537.6 million in 1990 to 764.8 million in 2013 due to population growth and ageing, whereas the age-standardised rate decreased little from 114.87 per 1000 people to 110.31 per 1000 people between 1990 and 2013. Leading causes of YLDs included low back pain and major depressive disorder among the top ten causes of YLDs in every country. YLD rates per person, by major cause groups, indicated the main drivers of increases were due to musculoskeletal, mental, and substance use disorders, neurological disorders, and chronic respiratory diseases; however HIV/AIDS was a notable driver of increasing YLDs in sub-Saharan Africa. Also, the proportion of disability-adjusted life years due to YLDs increased globally from 21.1% in 1990 to 31.2% in 2013. Interpretation Ageing of the world's population is leading to a substantial increase in the numbers of individuals with sequelae of diseases and injuries. Rates of YLDs are declining much more slowly than mortality rates. The non-fatal dimensions of disease and injury will require more and more attention from health systems. The transition to non-fatal outcomes as the dominant source of burden of disease is occurring rapidly outside of sub-Saharan Africa. Our results can guide future health initiatives through examination of epidemiological trends and a better understanding of variation across countries.
5.	2019 Tidskriftsartikel (refereegranskat)
6.	Barnes, Ashley T., et al. (författare) Mother of dragons: A massive, quiescent core in the dragon cloud (IRDC G028.37+00.07) 2023 Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 675 Tidskriftsartikel (refereegranskat)abstract Context. Core accretion models of massive star formation require the existence of massive, starless cores within molecular clouds. Yet, only a small number of candidates for such truly massive, monolithic cores are currently known. Aims. Here we analyse a massive core in the well-studied infrared-dark cloud (IRDC) called the dragon clouda'(also known as G028.37+00.07 or Cloud Ca). This core (C2c1) sits at the end of a chain of a roughly equally spaced actively star-forming cores near the center of the IRDC. Methods. We present new high-angular-resolution 1 mm ALMA dust continuum and molecular line observations of the massive core. Results. The high-angular-resolution observations show that this region fragments into two cores, C2c1a and C2c1b, which retain significant background-subtracted masses of 23 M· and 2 M· (31 M· and 6 M· without background subtraction), respectively. The cores do not appear to fragment further on the scales of our highest-angular-resolution images (0.2 , 0.005 pc ∼ 1000 AU). We find that these cores are very dense (nH2 > 106 cm-3) and have only trans-sonic non-thermal motions ( 3s ∼ 1). Together the mass, density, and internal motions imply a virial parameter of
7.	Beal, Jacob, et al. (författare) Robust estimation of bacterial cell count from optical density 2020 Ingår i: Communications Biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 3:1 Tidskriftsartikel (refereegranskat)abstract Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data.
8.	Cosentino, Giuliana, 1990, et al. (författare) Deuterium fractionation across the infrared-dark cloud G034.77-00.55 interacting with the supernova remnant W44 2023 Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 675 Tidskriftsartikel (refereegranskat)abstract Supernova remnants (SNRs) may regulate star formation in galaxies. For example, SNR-driven shocks may form new molecular gas or compress pre-existing clouds and trigger the formation of new stars. Aims. To test this scenario, we measured the deuteration of N2H+, DNfrac 2H+- a well-studied tracer of pre-stellar cores - across the infrared-dark cloud (IRDC) G034.77-00.55, which is known to be experiencing a shock interaction with the SNR W44. Methods. We use N2H+ and N2D+ J = 1-0 single pointing observations obtained with the 30m antenna at the Instituto de Radioastronomia Millimetrica to infer DN2H+ frac towards five positions across the cloud, namely a massive core, different regions across the shock front, a dense clump, and ambient gas. Results. We find DN2H+ frac in the range 0.03-0.1, which is several orders of magnitude larger than the cosmic D/H ratio (∼10-5). The DN2H+ frac across the shock front is enhanced by more than a factor of 2 (DNfrac 2H+∼ 0.05-0.07) with respect to the ambient gas (=0.03) and similar to that measured generally in pre-stellar cores. Indeed, in the massive core and dense clump regions of this IRDC we measure DN2H+ frac ∼ 0.1.
9.	Cosentino, Giuliana, et al. (författare) Interstellar Plunging Waves: ALMA Resolves the Physical Structure of Nonstationary MHD Shocks 2019 Ingår i: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8213 .- 2041-8205. ; 881:2 Tidskriftsartikel (refereegranskat)abstract Magnetohydrodynamic (MHD) shocks are violent events that inject large amounts of energy in the interstellar medium dramatically modifying its physical properties and chemical composition. Indirect evidence for the presence of such shocks has been reported from the especial chemistry detected toward a variety of astrophysical shocked environments. However, the internal physical structure of these shocks remains unresolved since their expected spatial scales are too small to be measured with current instrumentation. Here we report the first detection of a fully spatially resolved, MHD shock toward the infrared dark cloud (IRDC) G034.77-00.55. The shock, probed by silicon monoxide (SiO) and observed with the Atacama Large Millimeter/submillimeter Array (ALMA), is associated with the collision between the dense molecular gas of the cloud and a molecular gas flow pushed toward the IRDC by the nearby supernova remnant (SNR) W44. The interaction is occurring on subparsec spatial scales thanks to the enhanced magnetic field of the SNR, making the dissipation region of the MHD shock large enough to be resolved with ALMA. Our observations suggest that molecular flow-flow collisions can be triggered by stellar feedback, inducing shocked molecular gas densities compatible with those required for massive star formation.
10.	Entekhabi, N., et al. (författare) Astrochemical modelling of infrared dark clouds 2022 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 662 Tidskriftsartikel (refereegranskat)abstract Context. Infrared dark clouds (IRDCs) are cold, dense regions of the interstellar medium (ISM) that are likely to represent the initial conditions for massive star and star cluster formation. It is thus important to study the physical and chemical conditions of IRDCs to provide constraints and inputs for theoretical models of these processes. Aims. We aim to determine the astrochemical conditions, especially the cosmic ray ionisation rate (CRIR) and chemical age, in different regions of the massive IRDC G28.37+00.07 by comparing observed abundances of multiple molecules and molecular ions with the predictions of astrochemical models. Methods. We have computed a series of single-zone, time-dependent, astrochemical models with a gas-grain network that systematically explores the parameter space of the density, temperature, CRIR, and visual extinction. We have also investigated the effects of choices of CO ice binding energy and temperatures achieved in the transient heating of grains when struck by cosmic rays. We selected ten positions across the IRDC that are known to have a variety of star formation activity. We utilised mid-infrared extinction maps and sub-millimetre (sub-mm) emission maps to measure the mass surface densities of these regions needed for abundance and volume density estimates. The sub-mm emission maps were also used to measure temperatures. We then used Instituto de Radioas-tromía Milimétrica (IRAM) 30 m observations of various tracers, especially C18O(1-0), H13CO+(1-0), HC18O+(1-0), and N2H+(1-0), to estimate column densities and thus abundances. Finally, we investigated the range of astrochemical conditions that are consistent with the observed abundances. Results. The typical physical conditions of the IRDC regions are nH ∼ 3 ×-104 to 105 cm-3 and T ∼ 10 to 15 K. Strong emission of H13CO+(1-0) and N2H+(1-0) is detected towards all the positions and these species are used to define relatively narrow velocity ranges of the IRDC regions, which are used for estimates of CO abundances, via C18O(1-0). We would like to note that CO depletion factors are estimated to be in the range fD ∼ 3 to 10. Using estimates of the abundances of CO, HCO+, and N2H+, we find consistency with astrochemical models that have relatively low CRIRs of ζ ∼ 10-18 to ∼10-17 s-1, with no evidence for systematic variation with the level of star formation activity. Astrochemical ages, which are defined with a reference to an initial condition of all H in H2, all C in CO, and all other species in atomic form, are found to be <1 Myr. We also explore the effects of using other detected species, that is HCN, HNC, HNCO, CH3OH, and H2CO, to constrain the models. These generally lead to implied conditions with higher levels of CRIRs and older chemical ages. Considering the observed fD versus nH relation of the ten positions, which we find to have relatively little scatter, we discuss potential ways in which the astrochemical models can match such a relation as a quasi-equilibrium limit valid at ages of at least a few free-fall times, that is 3;0.3 Myr, including the effect of CO envelope contamination, small variations in temperature history near 15 K, CO-ice binding energy uncertainties, and CR-induced desorption. We find general consistency with the data of ∼0.5 Myr-old models that have ζ ∼ 2-5-10-18 s-1 and CO abundances set by a balance of freeze-out with CR-induced desorption. Conclusions. We have constrained the astrochemical conditions in ten regions in a massive IRDC, finding evidence for relatively low values of CRIR compared to diffuse ISM levels. We have not seen clear evidence for variation in the CRIR with the level of star formation activity. We favour models that involve relatively low CRIRs (≲ 10-17 s-1) and relatively old chemical ages (≳ 3;0.3 Myr, i.e. 3;3tff). We discuss potential sources of systematic uncertainties in these results and the overall implications for IRDC evolutionary history and astrochemical models.
11.	Jones, Benedict C, et al. (författare) To which world regions does the valence-dominance model of social perception apply? 2021 Ingår i: Nature Human Behaviour. - : Springer Science and Business Media LLC. - 2397-3374. ; 5:1, s. 159-169 Tidskriftsartikel (refereegranskat)abstract Over the past 10 years, Oosterhof and Todorov's valence-dominance model has emerged as the most prominent account of how people evaluate faces on social dimensions. In this model, two dimensions (valence and dominance) underpin social judgements of faces. Because this model has primarily been developed and tested in Western regions, it is unclear whether these findings apply to other regions. We addressed this question by replicating Oosterhof and Todorov's methodology across 11 world regions, 41 countries and 11,570 participants. When we used Oosterhof and Todorov's original analysis strategy, the valence-dominance model generalized across regions. When we used an alternative methodology to allow for correlated dimensions, we observed much less generalization. Collectively, these results suggest that, while the valence-dominance model generalizes very well across regions when dimensions are forced to be orthogonal, regional differences are revealed when we use different extraction methods and correlate and rotate the dimension reduction solution. PROTOCOL REGISTRATION: The stage 1 protocol for this Registered Report was accepted in principle on 5 November 2018. The protocol, as accepted by the journal, can be found at https://doi.org/10.6084/m9.figshare.7611443.v1 .
12.	Law, Chi Yan, 1990, et al. (författare) Polarized Light from Massive Protoclusters (POLIMAP). I. Dissecting the Role of Magnetic Fields in the Massive Infrared Dark Cloud G28.37+0.07 2024 Ingår i: Astrophysical Journal. - 1538-4357 .- 0004-637X. ; 967:2 Tidskriftsartikel (refereegranskat)abstract Magnetic fields may play a crucial role in setting the initial conditions of massive star and star cluster formation. To investigate this, we report SOFIA-HAWC+ 214 μm observations of polarized thermal dust emission and high-resolution GBT-Argus C18O(1-0) observations toward the massive Infrared Dark Cloud (IRDC) G28.37+0.07. Considering the local dispersion of B-field orientations, we produce a map of the B-field strength of the IRDC, which exhibits values between ∼0.03 and 1 mG based on a refined Davis-Chandrasekhar-Fermi method proposed by Skalidis & Tassis. Comparing to a map of inferred density, the IRDC exhibits a B-n relation with a power-law index of 0.51 ± 0.02, which is consistent with a scenario of magnetically regulated anisotropic collapse. Consideration of the mass-to-flux ratio map indicates that magnetic fields are dynamically important in most regions of the IRDC. A virial analysis of a sample of massive, dense cores in the IRDC, including evaluation of magnetic and kinetic internal and surface terms, indicates consistency with virial equilibrium, sub-Alfvénic conditions, and a dominant role for B-fields in regulating collapse. A clear alignment of magnetic field morphology with the direction of the steepest column density gradient is also detected. However, there is no preferred orientation of protostellar outflow directions with the B-field. Overall, these results indicate that magnetic fields play a crucial role in regulating massive star and star cluster formation, and therefore they need to be accounted for in theoretical models of these processes.
13.	Abbott, Anne L., et al. (författare) Why Calls for More Routine Carotid Stenting Are Currently Inappropriate An International, Multispecialty, Expert Review and Position Statement 2013 Ingår i: Stroke. - 0039-2499 .- 1524-4628. ; 44:4, s. 1186-1190 Tidskriftsartikel (refereegranskat)
14.	Abbott, Anne L., et al. (författare) Why the United States Center for Medicare and Medicaid Services should not extend reimbursement indications for carotid artery angioplasty/stenting 2012 Ingår i: VASCULAR. - : SAGE Publications. - 1708-5381 .- 1708-539X. ; 43:3, s. 247-251 Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
15.	Andersen, M., et al. (författare) The Stellar Content of the Infalling Molecular Clump G286.21+0.17 2017 Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 850:1, s. 12-19 Tidskriftsartikel (refereegranskat)abstract © 2017. The American Astronomical Society. All rights reserved. The early evolution during massive star cluster formation is still uncertain. Observing embedded clusters at their earliest stages of formation can provide insight into the spatial and temporal distribution of the stars and thus probe different star cluster formation models. We present near-infrared imaging of an 8′ × 13′ (5.4 pc × 8.7 pc) region around the massive infalling clump G286.21+0.17 (also known as BYF73). The stellar content across the field is determined and photometry is derived in order to obtain stellar parameters for the cluster members. We find evidence for some sub-structure (on scales less than a parsec in diameter) within the region with apparently at least three different sub-clusters associated with the molecular clump based on differences in extinction and disk fractions. At the center of the clump we identify a deeply embedded sub-cluster. Near-infrared excess is detected for 39%-44% in the two sub-clusters associated with molecular material and 27% for the exposed cluster. Using the disk excess as a proxy for age, this suggests the clusters are very young. The current total stellar mass is estimated to be at least 200 M o . The molecular core hosts a rich population of pre-main-sequence stars. There is evidence for multiple events of star formation both in terms of the spatial distribution within the star-forming region and possibly from the disk frequency.
16.	Appel, Sabrina M., et al. (författare) What Sets the Star Formation Rate of Molecular Clouds? The Density Distribution as a Fingerprint of Compression and Expansion Rates 2023 Ingår i: Astrophysical Journal. - 1538-4357 .- 0004-637X. ; 954:1 Tidskriftsartikel (refereegranskat)abstract We use a suite of 3D simulations of star-forming molecular clouds, with and without stellar feedback, magnetic fields, and driven turbulence, to study the compression and expansion rates of the gas as functions of density. We show that, around the mean density, supersonic turbulence promotes rough equilibrium between the amounts of compressing and expanding gas, consistent with continuous gas cycling between high- and low-density states. We find that the inclusion of protostellar jets produces rapidly expanding and compressing low-density gas. We find that the gas mass flux peaks at the transition between the lognormal and power-law forms of the density probability distribution function (PDF). This is consistent with the transition density tracking the post-shock density, which promotes an enhancement of mass at this density (i.e., shock compression and filament formation). At high densities, the gas dynamics are dominated by self-gravity: the compression rate in all of our runs matches the rate of the run with only gravity, suggesting that processes other than self-gravity have little effect at these densities. The net gas mass flux becomes constant at a density below the sink formation threshold, where it equals the star formation rate. The density at which the net gas mass flux equals the star formation rate is one order of magnitude lower than our sink threshold density, corresponds to the formation of the second power-law tail in the density PDF, and sets the overall star formation rates of these simulations.
17.	Banik, Nilanjan, et al. (författare) The formation of supermassive black holes from Population III.1 seeds. I. Cosmic formation histories and clustering properties 2019 Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 483:3, s. 3592-3606 Tidskriftsartikel (refereegranskat)abstract We calculate cosmic distributions in space and time of the formation sites of the first, 'Pop III.1' stars, exploring a model in which these are the progenitors of all supermassive black holes (SMBHs), seen in the centres of most large galaxies. Pop III.1 stars are defined to form from primordial composition gas in dark matter minihaloes with similar to 10(6) M-circle dot that are isolated from neighbouring astrophysical sources by a given isolation distance, d(iso). We assume Pop III.1 sources are seeds of SMBHs, based on protostellar support by dark matter annihilation heating that allows them to accrete a large fraction of their minihalo gas, i.e. similar to 10(5) M-circle dot. Exploring d(iso) from 10 to 100 kpc (proper distances), we predict the redshift evolution of Pop III.1 source and SMBH remnant number densities. The local, z = 0 density of SMBH sconstrains d(iso) less than or similar to 100 kpc (i.e. 3 Mpc comoving distance at z similar or equal to 30). In our simulated (similar to 60 Mpc)(3) comoving volume, Pop III.1 stars start forming just after z = 40. Their formation is largely complete by z similar or equal to 25-20 for d(iso) = 100-50 kpc. We follow source evolution to z = 10, by which point most SMBHs reside in haloes with greater than or similar to 10(8) M-circle dot. Over this period, there is relatively limited merging of SMBHs for these values of d(iso). We also predict SMBH clustering properties at z = 10: feedback suppression of neighbouring sources leads to relatively flat angular correlation functions.
18.	Barnes, A. T., et al. (författare) ALMA-IRDC: dense gas mass distribution from cloud to core scales 2021 Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 503:3, s. 4601-4626 Tidskriftsartikel (refereegranskat)abstract Infrared dark clouds (IRDCs) are potential hosts of the elusive early phases of high mass star formation (HMSF). Here, we conduct an in-depth analysis of the fragmentation properties of a sample of 10 IRDCs, which have been highlighted as some of the best candidates to study HMSF within the Milky Way. To do so, we have obtained a set of large mosaics covering these IRDCs with Atacama Large Millimeter/submillimeter Array (ALMA) at Band 3 (or 3 mm). These observations have a high angular resolution (similar to 3 arcsec; similar to 0.05 pc), and high continuum and spectral line sensitivity (similar to 0.15 mJy beam(-1) and similar to 0.2 K per 0.1 km s(-1) channel at the N2H+ (1 - 0) transition). From the dust continuum emission, we identify 96 cores ranging from low to high mass (M = 3.4-50.9M(circle dot)) that are gravitationally bound (alpha(vir) = 0.3-1.3) and which would require magnetic field strengths of B = 0.3-1.0 mG to be in virial equilibrium. We combine these results with a homogenized catalogue of literature cores to recover the hierarchical structure within these clouds over four orders of magnitude in spatial scale (0.01-10 pc). Using supplementary observations at an even higher angular resolution, we find that the smallest fragments (<0.02 pc) within this hierarchy do not currently have the mass and/or the density required to form high-mass stars. None the less, the new ALMA observations presented in this paper have facilitated the identification of 19 (6 quiescent and 13 star-forming) cores that retain >16M(circle dot) without further fragmentation. These high-mass cores contain trans-sonic non-thermal motions, are kinematically sub-virial, and require moderate magnetic field strengths for support against collapse. The identification of these potential sites of HMSF represents a key step in allowing us to test the predictions from high-mass star and cluster formation theories.
19.	Bisbas, T.G., et al. (författare) GMC Collisions as Triggers of Star Formation. V. Observational Signatures 2017 Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 850:1, s. 23-32 Tidskriftsartikel (refereegranskat)abstract © 2017. The American Astronomical Society. All rights reserved.. We present calculations of molecular, atomic, and ionic line emission from simulations of giant molecular cloud (GMC) collisions. We post-process snapshots of the magnetohydrodynamical simulations presented in an earlier paper in this series by Wu et al. of colliding and non-colliding GMCs. Using photodissociation region (PDR) chemistry and radiative transfer, we calculate the level populations and emission properties of the transitions of 12 CO J = 1-0, [C i] at 609 μm, [C ii] 158 μm, and [O i] at 63 μm. From emission maps of integrated intensity and position-velocity diagrams, we find that fine-structure lines, particularly [C ii] 158 μm, can be used as a diagnostic tracer for cloud-cloud collision activity. These results hold even in more evolved systems in which the collision signature in molecular lines has been diminished.
20.	Bisbas, Thomas G., et al. (författare) Photodissociation region diagnostics across galactic environments 2021 Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 502:2, s. 2701-2732 Tidskriftsartikel (refereegranskat)abstract We present three-dimensional astrochemical simulations and synthetic observations of magnetized, turbulent, self-gravitating molecular clouds. We explore various galactic interstellar medium environments, including cosmic ray ionization rates in the range of zeta(CR) = 10(-17)-10(-14)S(-1), far-UV intensities in the range of G(theta) = 1-10(3) and metallicities in the range of Z = 0.1-2Z(circle dot). The simulations also probe a range of densities and levels of turbulence, including cases where the gas has undergone recent compression due to cloud-cloud collisions. We examine: (i) the column densities of carbon species across the cycle of CII, CI, and CO, along with OI, in relation to the H I-to-H-2 transition; (ii) the velocity-integrated emission of [CII] 158 mu m, [C-13 II] 158 mu m, [C I] 609 mu m and 370 mu m, [O I] 63 mu m and 146 mu m, and of the first ten (CO)-C-12 rotational transitions; (iii) the corresponding Spectral Line Energy Distributions; (iv) the usage of [C II] and [O I] 63 mu m to describe the dynamical state of the clouds; (v) the behaviour of the most commonly used ratios between transitions of CO and [CI]; and (vi) the conversion factors for using CO and CI as H-2-gas tracers. We find that enhanced cosmic ray energy densities enhance all aforementioned line intensities. At low metallicities, the emission of [C11] is well connected with the H-2 column, making it a promising new H-2 tracer in metal-poor environments. The conversion factors of X-CO and X-CI depend on metallicity and the cosmic ray ionization rate, but not on FUV intensity. In the era of ALMA, SOFIA, and the forthcoming CCAT-prime telescope, our results can be used to understand better the behaviour of systems in a wide range of galactic and extragalactic environments.
21.	Bisbas, T. G., et al. (författare) The inception of star cluster formation revealed by [C ii] emission around an Infrared Dark Cloud 2018 Ingår i: Monthly Notices of the Royal Astronomical Society: Letters. - : Oxford University Press (OUP). - 1745-3925 .- 1745-3933. ; 478:1, s. L54-L59 Tidskriftsartikel (refereegranskat)abstract We present SOFIA-upGREAT observations of [C ii] emission of Infrared Dark Cloud (IRDC) G035.39-00.33, designed to trace its atomic gas envelope and thus test models of the origins of such clouds. Several velocity components of [C ii] emission are detected, tracing structures that are at a wide range of distances in the Galactic plane. We find a main component that is likely associated with the IRDC and its immediate surroundings. This strongest emission component has a velocity similar to that of the 13CO(2-1) emission of the IRDC, but offset by ∼3 km s-1 and with a larger velocity width of ∼9 km s-1. The spatial distribution of the [C ii] emission of this component is also offset predominantly to one side of the dense filamentary structure of the IRDC. The C ii column density is estimated to be of the order of ∼1017-1018 cm-2. We compare these results to the [C ii] emission from numerical simulations of magnetized, dense gas filaments formed from giant molecular cloud (GMC) collisions, finding similar spatial and kinematic offsets. These observations and modellingof [C ii] add further to the evidence that IRDC G035.39-00.33 has been formed by a process of GMC-GMC collision, which may thus be an important mechanism for initiating star cluster formation.
22.	Cable, Jennifer, et al. (författare) Sleep and circadian rhythms : pillars of health-a Keystone Symposia report 2021 Ingår i: Annals of the New York Academy of Sciences. - : John Wiley & Sons. - 0077-8923 .- 1749-6632. ; 1506:1, s. 18-34 Tidskriftsartikel (refereegranskat)abstract The human circadian system consists of the master clock in the suprachiasmatic nuclei of the hypothalamus as well as in peripheral molecular clocks located in organs throughout the body. This system plays a major role in the temporal organization of biological and physiological processes, such as body temperature, blood pressure, hormone secretion, gene expression, and immune functions, which all manifest consistent diurnal patterns. Many facets of modern life, such as work schedules, travel, and social activities, can lead to sleep/wake and eating schedules that are misaligned relative to the biological clock. This misalignment can disrupt and impair physiological and psychological parameters that may ultimately put people at higher risk for chronic diseases like cancer, cardiovascular disease, and other metabolic disorders. Understanding the mechanisms that regulate sleep circadian rhythms may ultimately lead to insights on behavioral interventions that can lower the risk of these diseases. On February 25, 2021, experts in sleep, circadian rhythms, and chronobiology met virtually for the Keystone eSymposium "Sleep & Circadian Rhythms: Pillars of Health" to discuss the latest research for understanding the bidirectional relationships between sleep, circadian rhythms, and health and disease.
23.	Cai, Maxwell X., et al. (författare) Inside-out planet formation: VI. oligarchic coagulation of planetesimals from a pebble ring? 2022 Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 510:4, s. 5486-5499 Tidskriftsartikel (refereegranskat)abstract Inside-Out Planet Formation (IOPF) is a theory addressing the origin of Systems of Tightly-Packed Inner Planets (STIPs) via in situ formation and growth of the planets. It predicts that a pebble ring is established at the pressure maximum associated with the dead zone inner boundary (DZIB) with an inner disc magnetorotational instability (MRI)-active region. Using direct N -body simulations, we study the collisional evolution of planetesimals formed from such a pebble ring, in particular, examining whether a single dominant planet emerges. We consider a variety of models, including some in which the planetesimals are continuing to grow via pebble accretion. We find that the planetesimal ring undergoes oligarchic evolution, and typically turns into 2 or 3 surviving oligarchs on nearly coplanar and circular orbits, independent of the explored initial conditions or form of pebble accretion. The most massive oligarchs typically consist of about 70 per cent of the total mass, with the building-up process typically finishing within ∼10 5 yr. Ho we ver, a relati vely massi ve secondary planet al w ays remains with ∼30 -65 per cent of the mass of the primary. Such secondary planets have properties that are inconsistent with the observed properties of the innermost pairs of planets in STIPs. Thus, for IOPF to be a viable theory for STIP formation, it needs to be sho wn ho w oligarchic growth of a relatively massive secondary from the initial pebble ring can be a v oided. We discuss some potential additional physical processes that should be included in the modelling and explored as next steps.
24.	Calabrese, Claudia, et al. (författare) Genomic basis for RNA alterations in cancer 2020 Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 578:7793, s. 129-136 Tidskriftsartikel (refereegranskat)abstract Transcript alterations often result from somatic changes in cancer genomes1. Various forms of RNA alterations have been described in cancer, including overexpression2, altered splicing3 and gene fusions4; however, it is difficult to attribute these to underlying genomic changes owing to heterogeneity among patients and tumour types, and the relatively small cohorts of patients for whom samples have been analysed by both transcriptome and whole-genome sequencing. Here we present, to our knowledge, the most comprehensive catalogue of cancer-associated gene alterations to date, obtained by characterizing tumour transcriptomes from 1,188 donors of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA)5. Using matched whole-genome sequencing data, we associated several categories of RNA alterations with germline and somatic DNA alterations, and identified probable genetic mechanisms. Somatic copy-number alterations were the major drivers of variations in total gene and allele-specific expression. We identified 649 associations of somatic single-nucleotide variants with gene expression in cis, of which 68.4% involved associations with flanking non-coding regions of the gene. We found 1,900 splicing alterations associated with somatic mutations, including the formation of exons within introns in proximity to Alu elements. In addition, 82% of gene fusions were associated with structural variants, including 75 of a new class, termed 'bridged' fusions, in which a third genomic location bridges two genes. We observed transcriptomic alteration signatures that differ between cancer types and have associations with variations in DNA mutational signatures. This compendium of RNA alterations in the genomic context provides a rich resource for identifying genes and mechanisms that are functionally implicated in cancer.
25.	Caretta, Martina Angela, et al. (författare) Water 2022 Ingår i: Climate Change 2022: Impacts, Adaptation and Vulnerability : Contribution of Working Group II to the Sixth Assessment Report of the Intergovernmental Panel on Climate Change - Contribution of Working Group II to the Sixth Assessment Report of the Intergovernmental Panel on Climate Change. Bokkapitel (övrigt vetenskapligt/konstnärligt)
26.	Cevallos Soto, Arturo, 1993, et al. (författare) Inside-out planet formation - VII. Astrochemical models of protoplanetary discs and implications for planetary compositions 2022 Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 517:2, s. 2285-2308 Tidskriftsartikel (refereegranskat)abstract Inside-out planet formation (IOPF) proposes that the abundant systems of close-in Super-Earths and Mini-Neptunes form in situ at the pressure maximum associated with the dead zone inner boundary (DZIB). We present a model of physical and chemical evolution of protoplanetary disc midplanes that follows gas advection, radial drift of pebbles, and gas-grain chemistry to predict abundances from similar to 300 au down to the DZIB near 0.2 au. We consider typical disc properties relevant for IOPF, i.e. accretion rates 10(-9) < (m) over dot/(M-circle dot, yr(-1)) < 10(-8) and viscosity parameter alpha = 10(-)(4), and evolve for fiducial duration of 10(5) yr. For outer, cool disc regions, we find that C and up to 90 per cent of 0 nuclei start locked in CO and O-2 ice, which keeps abundances of CO2 and H2O one order of magnitude lower. Radial drift of icy pebbles is influential, with gas-phase abundances of volatiles enhanced up to two orders of magnitude at icelines, while the outer disc becomes depleted of dust. Discs with decreasing accretion rates gradually cool, which draws in icelines closer to the star. At less than or similar to 1 au, advective models yield water-rich gas with C/O ratios less than or similar to 0.1, which may be inherited by atmospheres of planets forming here via IOPF. For planetary interiors built by pebble accretion, IOPF predicts volatile-poor compositions. However, advectively enhanced volatile mass fractions of similar to 10 per cent can occur at the water iceline.
27.	Cheng, Yu, et al. (författare) Gas Kinematics of the Massive Protocluster G286.21+0.17 Revealed by ALMA 2020 Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 894:2 Tidskriftsartikel (refereegranskat)abstract We study the gas kinematics and dynamics of the massive protocluster G286.21+0.17 with the Atacama Large Millimeter/submillimeter Array using spectral lines of {equation presented}(3-2), and DCN(3-2). On the parsec clump scale, C18O emission appears highly filamentary around the systemic velocity, N2D+ and DCO+ are more closely associated with the dust continuum, and DCN is strongly concentrated toward the protocluster center, where no or only weak detection is seen for N2D and DCO+, possibly due to this region being at a relatively evolved evolutionary stage. Spectra of 76 continuum-defined dense cores, typically a few 1000 au in size, are analyzed to measure their centroid velocities and internal velocity dispersions. There are no statistically significant velocity offsets of the cores among the different dense gas tracers. Furthermore, the majority (71%) of the dense cores have subthermal velocity offsets with respect to their surrounding, lower-density C18O-emitting gas. Within the uncertainties, the dense cores in G286 show internal kinematics that are consistent with being in virial equilibrium. On clump scales, the core-to-core velocity dispersion is also similar to that required for virial equilibrium in the protocluster potential. However, the distribution in velocity of the cores is largely composed of two spatially distinct groups, which indicates that the dense molecular gas has not yet relaxed to virial equilibrium, perhaps due to there being recent/continuous infall into the system.
28.	Cheng, Yu, et al. (författare) Star Formation in a Strongly Magnetized Cloud 2021 Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 916:2 Tidskriftsartikel (refereegranskat)abstract We study star formation in the Center Ridge 1 (CR1) clump in the Vela C giant molecular cloud, selected as a high column density region that shows the lowest level of dust continuum polarization-angle dispersion, likely indicating that the magnetic field is relatively strong. We observe the source with the Atacama Large Millimeter/submillimeter Array 7 m array at 1.05 and 1.3 mm wavelengths, which enable measurements of dust temperature, core mass, and astrochemical deuteration. A relatively modest number of 11 dense cores are identified via their dust continuum emission, with masses spanning from 0.17-6.7 M-circle dot. Overall CR1 has a relatively low compact dense gas fraction compared with other typical clouds with similar column densities, which may be a result of the strong magnetic field and/or the very early evolutionary stage of this region. The deuteration ratios, D-frac, of the cores, measured with N2H+(3-2) and N2D+(3-2) lines, span from 0.011-0.85, with the latter being one of the highest values yet detected. The level of deuteration appears to decrease with evolution from prestellar to protostellar phase. A linear filament, running approximately parallel with the large scale magnetic field orientation, is seen connecting the two most massive cores, each having CO bipolar outflows aligned orthogonally to the filament. The filament contains the most deuterated core, likely to be prestellar and located midway between the protostars. The observations permit measurement of the full deuteration structure of the filament along its length, which we present. We also discuss the kinematics and dynamics of this structure, as well as of the dense core population.
29.	Cheng, Yu, et al. (författare) Stellar Variability in a Forming Massive Star Cluster 2020 Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 897:1 Tidskriftsartikel (refereegranskat)abstract We present a near-infrared (NIR) variability analysis for a 6′ 6′ region, which encompasses the massive protocluster G286.21+0.17. The total sample comprises more than 5000 objects, of which 562 show signs of a circumstellar disk based on their infrared colors. The data includes Hubble Space Telescope observations taken in two epochs separated by 3 yr in the F110W and F160W bands. 363 objects (7% of the sample) exhibit NIR variability at a significant level (Stetson index >1.7), and a higher variability fraction (14%) is found for the young stellar objects with disk excesses. We identified four high amplitude (>0.6 mag) variables seen in both NIR bands. Follow-up and archival observations of the most variable object in this survey (G286.2032+0.1740) reveal a rising light curve over 8 yr from 2011 to 2019, with a K band brightening of 3.5 mag. Overall the temporal behavior of G286.2032+0.1740 resembles that of typical FU Ori objects; however, its pre-burst luminosity indicates it has a very low mass (<0.12 M o˙), making it an extreme case of an outburst event that is still ongoing.
30.	Cheng, Yu, et al. (författare) The Core Mass Function in the Massive Protocluster G286.21+0.17 Revealed by ALMA 2018 Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 853:2 Tidskriftsartikel (refereegranskat)abstract We study the core mass function (CMF) of the massive protocluster G286.21+0.17 with the Atacama Large Millimeter/submillimeter Array via 1.3 mm continuum emission at a resolution of 1.″0 (2500 au). We have mapped a field of 5.′3 × 5.′3 centered on the protocluster clump. We measure the CMF in the central region, exploring various core detection algorithms, which give source numbers ranging from 60 to 125, depending on parameter selection. We estimate completeness corrections due to imperfect flux recovery and core identification via artificial core insertion experiments. For masses M 1 M o , the fiducial dendrogram-identified CMF can be fit with a power law of the form dN/dlog M ∝ M -α with α ≃ 1.24 ± 0.17, slightly shallower than, but still consistent with, the index of the Salpeter stellar initial mass function of 1.35. Clumpfind-identified CMFs are significantly shallower with α ≃ 0.64 ± 0.13. While raw CMFs show a peak near 1 M o , completeness-corrected CMFs are consistent with a single power law extending down to ∼0.5 M o , with only a tentative indication of a shallowing of the slope around ∼1 M o . We discuss the implications of these results for star and star cluster formation theories.
31.	Cheng, Yu, et al. (författare) The Disk Population in a Distant Massive Protocluster 2022 Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 940:2 Tidskriftsartikel (refereegranskat)abstract The unprecedented angular resolution and sensitivity of the Atacama Large Millimeter/submillimeter Array make it possible to unveil disk populations in distant (>2 kpc), embedded young cluster environments. We have conducted an observation toward the central region of the massive protocluster G286.21+0.16 at 1.3 mm. With a spatial resolution of 23 mas and a sensitivity of 15 mu Jy beam(-1), we detect a total of 38 protostellar disks. These disks have dust masses ranging from about 53 to 1825 M (circle plus), assuming a dust temperature of 20 K. This sample is not closely associated with previously identified dense cores, as would be expected for disks around Class 0 protostars. Thus, we expect our sample, being flux-limited, to be mainly composed of Class I/flat-spectrum source disks, since these are typically more massive than Class II disks. Furthermore, we find that the distributions of disk masses and radii are statistically indistinguishable from those of the Class I/flat-spectrum objects in the Orion molecular cloud, indicating that similar processes are operating in G286.21+0.16 to regulate disk formation and evolution. The cluster center appears to host a massive protostellar system composed of three sources within 1200 au, including a potential binary with 600 au projected separation. Relative to this center, there is no evidence for widespread mass segregation in the disk population. We do find a tentative trend of increasing disk radius versus distance from the cluster center, which may point to the influence of dynamical interactions being stronger in the central regions.
32.	Christie, D., et al. (författare) GMC Collisions as Triggers of Star Formation. IV. the Role of Ambipolar Diffusion 2017 Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 848:1, s. 50-63 Tidskriftsartikel (refereegranskat)abstract © 2017. The American Astronomical Society. All rights reserved.. We investigate the role of ambipolar diffusion (AD) in collisions between magnetized giant molecular clouds (GMCs), which may be an important mechanism for triggering star cluster formation. Three-dimensional simulations of GMC collisions are performed using a version of the Enzo magnetohydrodynamics code that has been extended to include AD. The resistivities are calculated using the 31-species chemical model of Wu et al. (2015). We find that in the weak-field, 10 μG case, AD has only a modest effect on the dynamical evolution during the collision. However, for the stronger-field, case involving near-critical clouds, AD results in the formation of dense cores in regions where collapse is otherwise inhibited. The overall efficiency of formation of cores with n H ≥ 10 6 cm -3 in these simulations is increases from about 0.2% to 2% once AD is included, comparable to observed values in star-forming GMCs. The gas around these cores typically has relatively slow infall at speeds that are a modest fraction of the free-fall speed.
33.	Concepcion Gil-Rodriguez, Maria, et al. (författare) De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes 2015 Ingår i: Human Mutation. - : Wiley: 12 months. - 1059-7794 .- 1098-1004. ; 36:4, s. 454-462 Tidskriftsartikel (refereegranskat)abstract Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for approximate to 1%-2% of CdLS-like phenotypes.
34.	Cosentino, Giuliana, 1990, et al. (författare) Negative and positive feedback from a supernova remnant with SHREC. a detailed study of the shocked gas in IC443 2022 Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 511:1, s. 953-963 Tidskriftsartikel (refereegranskat)abstract Supernova remnants (SNRs) contribute to regulate the star formation efficiency and evolution of galaxies. As they expand into the interstellar medium (ISM), they transfer vast amounts of energy and momentum that displace, compress, and heat the surrounding material. Despite the extensive work in galaxy evolution models, it remains to be observationally validated to what extent the molecular ISM is affected by the interaction with SNRs. We use the first results of the ESO-ARO Public Spectroscopic Survey SHREC to investigate the shock interaction between the SNR IC443 and the nearby molecular clump G. We use high-sensitivity SiO(2-1) and (HCO+)-C-13 (1-0) maps obtained by SHREC together with SiO(1-0) observations obtained with the 40-m telescope at the Yebes Observatory. We find that the bulk of the SiO emission is arising from the ongoing shock interaction between IC443 and clump G. The shocked gas shows a well-ordered kinematic structure, with velocities blue-shifted with respect to the central velocity of the SNR, similar to what observed towards other SNR-cloud interaction sites. The shock compression enhances the molecular gas density, n(H-2), up to >10(5) cm(-3), a factor of >10 higher than the ambient gas density and similar to values required to ignite star formation. Finally, we estimate that up to 50 per cent of the momentum injected by IC443 is transferred to the interacting molecular material. Therefore, the molecular ISM may represent an important momentum carrier in sites of SNR-cloud interactions.
35.	Cosentino, Giuliana, 1990, et al. (författare) SiO emission as a probe of cloud-cloud collisions in infrared dark clouds 2020 Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 499:2, s. 1666-1681 Tidskriftsartikel (refereegranskat)abstract Infrared dark clouds (IRDCs) are very dense and highly extincted regions that host the initial conditions of star and stellar cluster formation. It is crucial to study the kinematics and molecular content of IRDCs to test their formation mechanism and ultimately characterize these initial conditions. We have obtained high-sensitivity Silicon Monoxide, SiO(2-1), emission maps towards the six IRDCs, G018.82-00.28, G019.27+00.07, G028.53-00.25, G028.67+00.13, G038.95-00.47, and G053.11+00.05 (cloud A, B, D, E, I, and J, respectively), using the 30-m antenna at the Instituto de Radioastronomia Millimetrica (IRAM30m). We have investigated the SiO spatial distribution and kinematic structure across the six clouds to look for signatures of cloud-cloud collision events that may have formed the IRDCs and triggered star formation within them. Towards clouds A, B, D, I, and J, we detect spatially compact SiO emission with broad-line profiles that are spatially coincident with massive cores. Towards the IRDCs A and I, we report an additional SiO component that shows narrow-line profiles and that is widespread across quiescent regions. Finally, we do not detect any significant SiO emission towards cloud E. We suggest that the broad and compact SiO emission detected towards the clouds is likely associated with ongoing star formation activity within the IRDCs. However, the additional narrow and widespread SiO emission detected towards cloud A and I may have originated from the collision between the IRDCs and flows of molecular gas pushed towards the clouds by nearby H II regions.
36.	Costa Silva, A. R., et al. (författare) NIR jets from a clustered region of massive star formation: Morphology and composition in the IRAS 18264-1152 region 2022 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 659 Tidskriftsartikel (refereegranskat)abstract Context. Massive stars play crucial roles in determining the physical and chemical evolution of galaxies. However, they form deeply embedded in their parental clouds, making it challenging to directly observe these stars and their immediate environments. It is known that accretion and ejection processes are intrinsically related, thus observing the massive protostellar outflows can provide crucial information about the processes governing massive star formation very close to the central engine. Aims. We aim to probe the IRAS 18264-1152 (also known as G19.88-0.53) high-mass star-forming complex in the near infrared (NIR) through its molecular hydrogen (H2) jets to analyse the morphology and composition of the line emitting regions and to compare with other outflow tracers. Methods. We observed the H2 NIR jets via K-band (1.9 2.5 μm) observations obtained with the integral field units VLT/SINFONI and VLT/KMOS. VLT/SINFONI provides the highest NIR angular resolution achieved so far for the central region of IRAS 18264-1152 (∼0.2). We compared the geometry of the NIR outflows with that of the associated molecular outflow, probed by CO (2-1) emission mapped with the Submillimeter Array. Results. We identify nine point sources in the SINFONI and KMOS fields of view. Four of these display a rising continuum in the K-band and are Brγ emitters, revealing that they are young, potentially jet-driving sources. The spectro-imaging analysis focusses on the H2 jets, for which we derived visual extinction, temperature, column density, area, and mass. The intensity, velocity, and excitation maps based on H2 emission strongly support the existence of a protostellar cluster in this region, with at least two (and up to four) different large-scale outflows, found through the NIR and radio observations. We compare our results with those found in the literature and find good agreement in the outflow morphology. This multi-wavelength comparison also allows us to derive a stellar density of ∼4000 stars pc-3. Conclusions. Our study reveals the presence of several outflows driven by young sources from a forming cluster of young, massive stars, demonstrating the utility of such NIR observations for characterising massive star-forming regions. Moreover, the derived stellar number density together with the geometry of the outflows suggest that stars can form in a relatively ordered manner in this cluster.
37.	Crowe, S., et al. (författare) Near-infrared observations of outflows and young stellar objects in the massive star-forming region AFGL 5180 2024 Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 682 Tidskriftsartikel (refereegranskat)abstract Context. Massive stars play important roles throughout the universe; however, their formation remains poorly understood. Observations of jets and outflows in high-mass star-forming regions, as well as surveys of young stellar object (YSO) content, can help test theoretical models of massive star formation. Aims. We aim at characterizing the massive star-forming region AFGL 5180 in the near-infrared (NIR), identifying outflows and relating these to sub-mm/mm sources, as well as surveying the overall YSO surface number density to compare to massive star formation models. Methods. Broad- and narrow-band imaging of AFGL 5180 was made in the NIR with the Large Binocular Telescope, in both seeing-limited (~0.5′) and high angular resolution (~0.09′) Adaptive Optics (AO) modes, as well as with the Hubble Space Telescope. Archival continuum data from the Atacama Millimeter/Submillimeter Array (ALMA) was also utilized. Results. At least 40 jet knots were identified via NIR emission from H2 and [FeII] tracing shocked gas. Bright jet knots outflowing from the central most massive protostar, S4 (estimated mass ~11 M⊙, via SED fitting), are detected towards the east of the source and are resolved in fine detail with the AO imaging. Additional knots are distributed throughout the field, likely indicating the presence of multiple driving sources. Sub-millimeter sources detected by ALMA are shown to be grouped in two main complexes, AFGL 5180 M and a small cluster ~15′ (0.15 pc in projection) to the south, AFGL 5180 S. From our NIR continuum images we identify YSO candidates down to masses of ~0.1 M⊙. Combined with the sub-mm sources, this yields a surface number density of such YSOs of N* ~ 103pc-2 within a projected radius of about 0.1 pc. Such a value is similar to those predicted by models of both core accretion from a turbulent clump environment and competitive accretion. The radial profile of N* is relatively flat on scales out to 0.2 pc, with only modest enhancement around the massive protostar inside 0.05 pc, which provides additional constraints on these massive star formation models. Conclusions. This study demonstrates the utility of high-resolution NIR imaging, in particular with AO, for detecting outflow activity and YSOs in distant regions. The presented images reveal the complex morphology of outflow-shocked gas within the large-scale bipolar flow of a massive protostar, as well as clear evidence for several other outflow driving sources in the region. Finally, this work presents a novel approach to compare the observed YSO surface number density from our study against different models of massive star formation.
38.	Csengeri, T., et al. (författare) 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 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 617 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.
39.	Elia, Davide, et al. (författare) The Hi-GAL compact source catalogue - II. The 360° catalogue of clump physical properties 2021 Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 504:2, s. 2742-2766 Tidskriftsartikel (refereegranskat)abstract We present the 360° catalogue of physical properties of Hi-GAL compact sources, detected between 70 and 500 $\mu$m. This release not only completes the analogous catalogue previously produced by the Hi-GAL collaboration for -71° 2 á 2 67°, but also meaningfully improves it because of a new set of heliocentric distances, 120 808 in total. About a third of the 150 223 entries are located in the newly added portion of the Galactic plane. A first classification based on detection at 70 $\mu$m as a signature of ongoing star-forming activity distinguishes between protostellar sources (23 per cent of the total) and starless sources, with the latter further classified as gravitationally bound (pre-stellar) or unbound. The integral of the spectral energy distribution, including ancillary photometry from λ = 21 to 1100 $\mu$m, gives the source luminosity and other bolometric quantities, while a modified blackbody fitted to data for $\lambda \ge 160∼\mu$m yields mass and temperature. All tabulated clump properties are then derived using photometry and heliocentric distance, where possible. Statistics of these quantities are discussed with respect to both source Galactic location and evolutionary stage. No strong differences in the distributions of evolutionary indicators are found between the inner and outer Galaxy. However, masses and densities in the inner Galaxy are on average significantly larger, resulting in a higher number of clumps that are candidates to host massive star formation. Median behaviour of distance-independent parameters tracing source evolutionary status is examined as a function of the Galactocentric radius, showing no clear evidence of correlation with spiral arm positions.
40.	Farias Osses, Juan Pablo, 1987, et al. (författare) Hunting for Runaways from the Orion Nebula Cluster 2020 Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 900:1 Tidskriftsartikel (refereegranskat)abstract We use Gaia DR2 to hunt for runaway stars from the Orion Nebula Cluster (ONC). We search a region extending 45 degrees around the ONC and out to 1 kpc to find sources that have overlapped in angular position with the cluster in the last similar to 10 Myr. We find similar to 17,000 runaway/walkaway candidates that satisfy this 2D traceback condition. Most of these are expected to be contaminants, e.g., caused by Galactic streaming motions of stars at different distances. We thus examine six further tests to help identify real runaways, namely: (1) possessing young stellar object (YSO) colors and magnitudes based on Gaia optical photometry; (2) having IR excess consistent with YSOs based on 2MASS and Wide-field Infrared Survey Explorer photometry; (3) having a high degree of optical variability; (4) having closest approach distances well-constrained to within the cluster half-mass radius; (5) having ejection directions that avoid the main Galactic streaming contamination zone; and (6) having a required radial velocity (RV) for 3D overlap of reasonable magnitude (or, for the 7% of candidates with measured RVs, satisfying 3D traceback). Thirteen sources, not previously noted as Orion members, pass all these tests, while another twelve are similarly promising, except they are in the main Galactic streaming contamination zone. Among these 25 ejection candidates, ten with measured RVs pass the most restrictive 3D traceback condition. We present full lists of runaway/walkaway candidates, estimate the high-velocity population ejected from the ONC, and discuss its implications for cluster formation theories via comparison with numerical simulations.
41.	Farias Osses, Juan Pablo, 1987, et al. (författare) On the formation of runaway stars BN and x in the Orion Nebula Cluster 2018 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 612 Tidskriftsartikel (refereegranskat)abstract We explore scenarios for the dynamical ejection of stars BN and x from source I in the Kleinmann-Low nebula of the Orion Nebula Cluster (ONC), which is important because it is the closest region of massive star formation. This ejection would cause source I to become a close binary or a merger product of two stars. We thus consider binary-binary encounters as the mechanism to produce this event. By running a large suite of N-body simulations, we find that it is nearly impossible to match the observations when using the commonly adopted masses for the participants, especially a source I mass of 7 M-circle dot. The only way to recreate the event is if source I is more massive, that is, similar to 20 M-circle dot. However, even in this case, the likelihood of reproducing the observed system is low. We discuss the implications of these results for understanding this important star-forming region.
42.	Farias Osses, Juan Pablo, 1987, et al. (författare) Star Cluster Formation from Turbulent Clumps. I. The Fast Formation Limit 2017 Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 838:2 Tidskriftsartikel (refereegranskat)
43.	Farias Osses, Juan Pablo, 1987, et al. (författare) Star cluster formation from turbulent clumps. II. Gradual star cluster formation 2019 Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 483:4, s. 4999-5019 Tidskriftsartikel (refereegranskat)abstract We investigate the dynamical evolution of star clusters during their formation, assuming that they are born from a turbulent starless clump of a given mass that is embedded within a parent self-gravitating molecular cloud characterized by a particular mass surface density. In contrast to the standard practice of most N-body studies, we do not assume that all stars are formed at once. Rather, we explore the effects of different star formation rates on the global structure and evolution of young embedded star clusters, also considering various primordial binary fractions and mass segregation levels. Our fiducial clumps studied in this paper have initial masses of M cl = 3000M ⊙ , are embedded in ambient cloud environments of σ cloud = 0.1 and 1 g cm -2 , and gradually form stars with an overall efficiency of 50 per cent until the gas is exhausted. We investigate star formation efficiencies per free-fall time in the range ϵ ff = 0.01-1, and also compare to the instantaneous case (ϵ ff = α) of Paper I. We show that most of the interesting dynamical processes that determine the future of the cluster, happen during the early formation phase. In particular, the ejected stellar population is sensitive to the duration of star cluster formation: for example, clusters with longer formation times produce more runaway stars, since these clusters remain in a dense state for longer, thus favouring occurrence of dynamical ejections. We also show that the presence of radial age gradients in star clusters depends sensitively on the star formation efficiency per free-fall time, with observed values being matched best by our slowest forming clusters with ϵ ff ≲0.03.
44.	Farias Osses, Juan Pablo, 1987, et al. (författare) Star cluster formation from turbulent clumps – III. Across the mass spectrum 2023 Ingår i: Monthly Notices of the Royal Astronomical Society. - 0035-8711 .- 1365-2966. ; 523:2, s. 2083-2110 Tidskriftsartikel (refereegranskat)abstract We study the formation and early evolution of star clusters that have a wide range of masses and background cloud mass surface densities, ∑cloud, which help set the initial sizes, densities, and velocity dispersions of the natal gas clumps. Initial clump masses of 300, 3000, and 30 000 M☉ are considered, from which star clusters are born with an assumed 50 per cent overall star formation efficiency and with 50 per cent primordial binarity. This formation is gradual, i.e. with a range of star formation efficiencies per free-fall time from 1 to 100 per cent, so that the formation time can range from 0.7 Myr for low-mass, high-∑cloud clumps to ∼30 Myr for high-mass, low-∑cloud clumps. Within this framework of the turbulent clump model, for a given ∑cloud, clumps of higher mass are of lower initial volume density, but their dynamical evolution leads to higher bound fractions and causes them to form much higher density cluster cores and maintain these densities for longer periods. This results in systematic differences in the evolution of binary properties, degrees of mass segregation, and rates of creation of dynamically ejected runaways. We discuss the implications of these results for observed star clusters and stellar populations.
45.	Fedriani, R., et al. (författare) Measuring the ionisation fraction in a jet from a massive protostar 2019 Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723 .- 2041-1723. ; 10:1 Tidskriftsartikel (refereegranskat)abstract It is important to determine if massive stars form via disc accretion, like their low-mass counterparts. Theory and observation indicate that protostellar jets are a natural consequence of accretion discs and are likely to be crucial for removing angular momentum during the collapse. However, massive protostars are typically rarer, more distant and more dust enshrouded, making observational studies of their jets more challenging. A fundamental question is whether the degree of ionisation in jets is similar across the mass spectrum. Here we determine an ionisation fraction of ~5–12% in the jet from the massive protostar G35.20-0.74N, based on spatially coincident infrared and radio emission. This is similar to the values found in jets from lower-mass young stars, implying a unified mechanism of shock ionisation applies in jets across most of the protostellar mass spectrum, up to at least ~10 solar masses.
46.	Fedriani, Rubén, 1991, et al. (författare) The sharpest view on the high-mass star-forming region S255IR: Near infrared adaptive optics imaging of the outbursting source NIRS3 2023 Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 676 Tidskriftsartikel (refereegranskat)abstract Context. Massive stars have an impact on their surroundings from early in their formation until the end of their lives. However, very little is known about their formation. Episodic accretion may play a crucial role in the process, but only a handful of observations have reported such events occurring in massive protostars. Aims. We aim to investigate the outburst event from the high-mass star-forming region S255IR where the protostar NIRS3 recently underwent an accretion outburst. We follow the evolution of this source both in photometry and morphology of its surroundings. Methods. We performed near infrared adaptive optics observations on the S255IR central region using the Large Binocular Telescope in the Ks broadband as well as the H2 and Brγ narrow-band filters with an angular resolution of 07.06, close to the diffraction limit. Results. We discovered a new near infrared knot north-east of NIRS3 that we interpret as a jet knot that was ejected during the last accretion outburst and observed in the radio regime as part of a follow-up after the outburst. We measured a mean tangential velocity for this knot of 450 ± 50 km s1. We analysed the continuum-subtracted images from H2, which traces jet-shocked emission, and Brγ, which traces scattered light from a combination of accretion activity and UV radiation from the central massive protostar. We observed a significant decrease in flux at the location of NIRS3, with K = 13.48 mag being the absolute minimum in the historic series. Conclusions. Our observations strongly suggest a scenario where the episodic accretion is followed by an episodic ejection response in the near infrared, as was seen in the earlier radio follow-up. The ~2 μm photometry from the past 30 yr suggests that NIRS3 might have undergone another outburst in the late 1980s, making it the first massive protostar with such evidence observed in the near infrared.
47.	Fedriani, Rubén, 1991, et al. (författare) The SOFIA Massive (SOMA) Star Formation Survey. IV. Isolated Protostars 2023 Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 942:1 Tidskriftsartikel (refereegranskat)abstract We present similar to 10-40 mu m SOFIA-FORCAST images of 11 isolated protostars as part of the SOFIA Massive (SOMA) Star Formation Survey, with this morphological classification based on 37 mu m imaging. We develop an automated method to define source aperture size using the gradient of its background-subtracted enclosed flux and apply this to build spectral energy distributions (SEDs). We fit the SEDs with radiative transfer models, developed within the framework of turbulent core accretion (TCA) theory, to estimate key protostellar properties. Here, we release the sedcreator python package that carries out these methods. The SEDs are generally well fitted by the TCA models, from which we infer initial core masses M ( c ) ranging from 20-430 M (circle dot), clump mass surface densities sigma(cl) similar to 0.3-1.7 g cm(-2), and current protostellar masses m () similar to 3-50 M (circle dot). From a uniform analysis of the 40 sources in the full SOMA survey to date, we find that massive protostars form across a wide range of clump mass surface density environments, placing constraints on theories that predict a minimum threshold sigma(cl) for massive star formation. However, the upper end of the m ()-sigma(cl) distribution follows trends predicted by models of internal protostellar feedback that find greater star formation efficiency in higher sigma(cl) conditions. We also investigate protostellar far-IR variability by comparison with IRAS data, finding no significant variation over an similar to 40 yr baseline.
48.	Feitosa, Mary F., et al. (författare) Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries 2018 Ingår i: PLOS ONE. - : Public library science. - 1932-6203. ; 13:6 Tidskriftsartikel (refereegranskat)abstract Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation remains unknown. We hypothesized that a genome-wide association study accounting for gene-alcohol consumption interaction for BP might identify additional BP loci and contribute to the understanding of alcohol-related BP regulation. We conducted a large two-stage investigation incorporating joint testing of main genetic effects and single nucleotide variant (SNV)-alcohol consumption interactions. In Stage 1, genome-wide discovery meta-analyses in approximate to 131 K individuals across several ancestry groups yielded 3,514 SNVs (245 loci) with suggestive evidence of association (P <1.0 x 10(-5)). In Stage 2, these SNVs were tested for independent external replication in individuals across multiple ancestries. We identified and replicated (at Bonferroni correction threshold) five novel BP loci (380 SNVs in 21 genes) and 49 previously reported BP loci (2,159 SNVs in 109 genes) in European ancestry, and in multi-ancestry meta-analyses (P < 5.0 x 10(-8)). For African ancestry samples, we detected 18 potentially novel BP loci (P< 5.0 x 10(-8)) in Stage 1 that warrant further replication. Additionally, correlated meta-analysis identified eight novel BP loci (11 genes). Several genes in these loci (e.g., PINX1, GATA4, BLK, FTO and GABBR2 have been previously reported to be associated with alcohol consumption. These findings provide insights into the role of alcohol consumption in the genetic architecture of hypertension.
49.	Flannick, Jason, et al. (författare) Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls 2017 Ingår i: Scientific Data. - : Springer Science and Business Media LLC. - 2052-4463. ; 4 Tidskriftsartikel (refereegranskat)abstract To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to ~82 K Europeans via the exome chip, and similar to ~90% of low-frequency non-coding variants in similar to ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
50.	Fontani, F., et al. (författare) ALMA-IRDC - II. First high-angular resolution measurements of the N-14/N-15 ratio in a large sample of infrared-dark cloud cores 2021 Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 503:3, s. 4320-4335 Tidskriftsartikel (refereegranskat)abstract The N-14/N-15 ratio in molecules exhibits a large variation in star-forming regions, especially when measured from N2H+ isotopologues. However, there are only a few studies performed at high-angular resolution. We present the first interferometric survey of the N-14/N-15 ratio in N2H+ obtained with Atacama Large Millimeter Array observations towards four infrared-dark clouds harbouring 3 mm continuum cores associated with different physical properties. We detect (NNH+)-N-15 (1-0) in of the cores, depending on the host cloud. The N-14/N-15 values measured towards the millimetre continuum cores range from a minimum of similar to 80 up to a maximum of similar to 400. The spread of values is narrower than that found in any previous single-dish survey of high-mass star-forming regions and than that obtained using the total power data only. This suggests that the N-14/N-15 ratio is on average higher in the diffuse gaseous envelope of the cores and stresses the need for high-angular resolution maps to measure correctly the N-14/N-15 ratio in dense cores embedded in IRDCs. The average N-14/N-15 ratio of similar to 210 is also lower than the interstellar value at the Galactocentric distance of the clouds (similar to 300-330), although the sensitivity of our observations does not allow us to unveil N-14/N-15 ratios higher than similar to 400. No clear trend is found between the N-14/N-15 ratio and the core physical properties. We find only a tentative positive trend between N-14/N-15 and H-2 column density. However, firmer conclusions can be drawn only with higher sensitivity measurements.

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