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- Khatri, C, et al.
(författare)
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Outcomes after perioperative SARS-CoV-2 infection in patients with proximal femoral fractures: an international cohort study
- 2021
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 11:11, s. e050830-
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Tidskriftsartikel (refereegranskat)abstract
- Studies have demonstrated high rates of mortality in people with proximal femoral fracture and SARS-CoV-2, but there is limited published data on the factors that influence mortality for clinicians to make informed treatment decisions. This study aims to report the 30-day mortality associated with perioperative infection of patients undergoing surgery for proximal femoral fractures and to examine the factors that influence mortality in a multivariate analysis.SettingProspective, international, multicentre, observational cohort study.ParticipantsPatients undergoing any operation for a proximal femoral fracture from 1 February to 30 April 2020 and with perioperative SARS-CoV-2 infection (either 7 days prior or 30-day postoperative).Primary outcome30-day mortality. Multivariate modelling was performed to identify factors associated with 30-day mortality.ResultsThis study reports included 1063 patients from 174 hospitals in 19 countries. Overall 30-day mortality was 29.4% (313/1063). In an adjusted model, 30-day mortality was associated with male gender (OR 2.29, 95% CI 1.68 to 3.13, p<0.001), age >80 years (OR 1.60, 95% CI 1.1 to 2.31, p=0.013), preoperative diagnosis of dementia (OR 1.57, 95% CI 1.15 to 2.16, p=0.005), kidney disease (OR 1.73, 95% CI 1.18 to 2.55, p=0.005) and congestive heart failure (OR 1.62, 95% CI 1.06 to 2.48, p=0.025). Mortality at 30 days was lower in patients with a preoperative diagnosis of SARS-CoV-2 (OR 0.6, 95% CI 0.6 (0.42 to 0.85), p=0.004). There was no difference in mortality in patients with an increase to delay in surgery (p=0.220) or type of anaesthetic given (p=0.787).ConclusionsPatients undergoing surgery for a proximal femoral fracture with a perioperative infection of SARS-CoV-2 have a high rate of mortality. This study would support the need for providing these patients with individualised medical and anaesthetic care, including medical optimisation before theatre. Careful preoperative counselling is needed for those with a proximal femoral fracture and SARS-CoV-2, especially those in the highest risk groups.Trial registration numberNCT04323644
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- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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| 16. |
- Bernal, Ximena E., et al.
(författare)
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Empowering Latina scientists
- 2019
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 363:6429, s. 825-826
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 17. |
- Duarte-Cabral, A., et al.
(författare)
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The SEDIGISM survey: Molecular clouds in the inner Galaxy
- 2021
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 500:3, s. 3027-3049
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Forskningsöversikt (refereegranskat)abstract
- We use the 13CO(2-1) emission from the SEDIGISM (Structure, Excitation, and Dynamics of the Inner Galactic InterStellar Medium) high-resolution spectral-line survey of the inner Galaxy, to extract the molecular cloud population with a large dynamic range in spatial scales, using the Spectral Clustering for Interstellar Molecular Emission Segmentation (SCIMES) algorithm. This work compiles a cloud catalogue with a total of 10 663 molecular clouds, 10 300 of which we were able to assign distances and compute physical properties. We study some of the global properties of clouds using a science sample, consisting of 6664 well-resolved sources and for which the distance estimates are reliable. In particular, we compare the scaling relations retrieved from SEDIGISM to those of other surveys, and we explore the properties of clouds with and without high-mass star formation. Our results suggest that there is no single global property of a cloud that determines its ability to form massive stars, although we find combined trends of increasing mass, size, surface density, and velocity dispersion for the sub-sample of clouds with ongoing high-mass star formation. We then isolate the most extreme clouds in the SEDIGISM sample (i.e. clouds in the tails of the distributions) to look at their overall Galactic distribution, in search for hints of environmental effects. We find that, for most properties, the Galactic distribution of the most extreme clouds is only marginally different to that of the global cloud population. The Galactic distribution of the largest clouds, the turbulent clouds and the high-mass star-forming clouds are those that deviate most significantly from the global cloud population. We also find that the least dynamically active clouds (with low velocity dispersion or low virial parameter) are situated further afield, mostly in the least populated areas. However, we suspect that part of these trends may be affected by some observational biases (such as completeness and survey limitations), and thus require further follow up work in order to be confirmed.
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| 18. |
- Lopez-Isac, E, et al.
(författare)
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GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4955-
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Tidskriftsartikel (refereegranskat)abstract
- Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments.
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- Schuller, F., et al.
(författare)
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The SEDIGISM survey: First Data Release and overview of the Galactic structure
- 2021
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 500:3, s. 3064-3082
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Tidskriftsartikel (refereegranskat)abstract
- The SEDIGISM (Structure, Excitation and Dynamics of the Inner Galactic InterstellarMedium) survey used the APEX telescope to map 84 deg(2) of the Galactic plane between l = -60 degrees and +31 degrees in several molecular transitions, including (CO)-C-13(2 - 1) and (CO)-O-18(2 - 1), thus probing the moderately dense (similar to 10(3) cm(-3)) component of the interstellar medium. With an angular resolution of 30 arcsec and a typical 1 sigma sensitivity of 0.8-1.0K at 0.25 km s(-1) velocity resolution, it gives access to a wide range of structures, from individual star-forming clumps to giant molecular clouds and complexes. The coverage includes a good fraction of the first and fourth Galactic quadrants, allowing us to constrain the large-scale distribution of cold molecular gas in the inner Galaxy. In this paper, we provide an updated overview of the full survey and the data reduction procedures used. We also assess the quality of these data and describe the data products that are being made publicly available as part of this First Data Release (DR1). We present integrated maps and position-velocity maps of the molecular gas and use these to investigate the correlation between the molecular gas and the large-scale structural features of the Milky Way such as the spiral arms, Galactic bar and Galactic Centre. We find that approximately 60 per cent of the molecular gas is associated with the spiral arms and these appear as strong intensity peaks in the derived Galactocentric distribution. We also find strong peaks in intensity at specific longitudes that correspond to the Galactic Centre and well-known star-forming complexes, revealing that the 13CO emission is concentrated in a small number of complexes rather than evenly distributed along spiral arms.
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- Akgul, M, et al.
(författare)
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Diagnostic approach in TFE3-rearranged renal cell carcinoma: a multi-institutional international survey
- 2021
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Ingår i: Journal of clinical pathology. - : BMJ. - 1472-4146 .- 0021-9746. ; 74:5, s. 291-299
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Tidskriftsartikel (refereegranskat)abstract
- Transcription factor E3-rearranged renal cell carcinoma (TFE3-RCC) has heterogenous morphologic and immunohistochemical (IHC) features.131 pathologists with genitourinary expertise were invited in an online survey containing 23 questions assessing their experience on TFE3-RCC diagnostic work-up.Fifty (38%) participants completed the survey. 46 of 50 participants reported multiple patterns, most commonly papillary pattern (almost always 9/46, 19.5%; frequently 29/46, 63%). Large epithelioid cells with abundant cytoplasm were the most encountered cytologic feature, with either clear (almost always 10/50, 20%; frequently 34/50, 68%) or eosinophilic (almost always 4/49, 8%; frequently 28/49, 57%) cytology. Strong (3+) or diffuse (>75% of tumour cells) nuclear TFE3 IHC expression was considered diagnostic by 13/46 (28%) and 12/47 (26%) participants, respectively. Main TFE3 IHC issues were the low specificity (16/42, 38%), unreliable staining performance (15/42, 36%) and background staining (12/42, 29%). Most preferred IHC assays other than TFE3, cathepsin K and pancytokeratin were melan A (44/50, 88%), HMB45 (43/50, 86%), carbonic anhydrase IX (41/50, 82%) and CK7 (32/50, 64%). Cut-off for positive TFE3 fluorescent in situ hybridisation (FISH) was preferably 10% (9/50, 18%), although significant variation in cut-off values was present. 23/48 (48%) participants required TFE3 FISH testing to confirm TFE3-RCC regardless of the histomorphologic and IHC assessment. 28/50 (56%) participants would request additional molecular studies other than FISH assay in selected cases, whereas 3/50 participants use additional molecular cases in all cases when TFE3-RCC is in the differential.Optimal diagnostic approach on TFE3-RCC is impacted by IHC and/or FISH assay preferences as well as their conflicting interpretation methods.
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| 22. |
- Yagoubov, P., et al.
(författare)
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Wideband 67-116 GHz receiver development for ALMA Band 2
- 2020
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 634
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Tidskriftsartikel (refereegranskat)abstract
- Context. The Atacama Large Millimeter/submillimeter Array (ALMA) has been in operation since 2011, but it has not yet been populated with the full suite of its planned frequency bands. In particular, ALMA Band 2 (67-90 GHz) is the final band in the original ALMA band definition to be approved for production. Aims. We aim to produce a wideband, tuneable, sideband-separating receiver with 28 GHz of instantaneous bandwidth per polarisation operating in the sky frequency range of 67-116 GHz. Our design anticipates new ALMA requirements following the recommendations of the 2030 ALMA Development Roadmap. Methods. The cryogenic cartridge is designed to be compatible with the ALMA Band 2 cartridge slot, where the coldest components - the feedhorns, orthomode transducers, and cryogenic low noise amplifiers - operate at a temperature of 15 K. We use multiple simulation methods and tools to optimise our designs for both the passive optics and the active components. The cryogenic cartridge is interfaced with a room-temperature (warm) cartridge hosting the local oscillator and the downconverter module. This warm cartridge is largely based on GaAs semiconductor technology and is optimised to match the cryogenic receiver bandwidth with the required instantaneous local oscillator frequency tuning range. Results. Our collaboration has resulted in the design, fabrication, and testing of multiple technical solutions for each of the receiver components, producing a state-of-the-art receiver covering the full ALMA Band 2 and 3 atmospheric window. The receiver is suitable for deployment on ALMA in the coming years and it is capable of dual-polarisation, sideband-separating observations in intermediate frequency bands spanning 4-18 GHz for a total of 28 GHz on-sky bandwidth per polarisation channel. Conclusions. We conclude that the 67-116 GHz wideband implementation for ALMA Band 2 is now feasible and that this receiver provides a compelling instrumental upgrade for ALMA that will enhance observational capabilities and scientific reach.
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| 23. |
- Bolli, P., et al.
(författare)
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An international survey of front-end receivers and observing performance of telescopes for radio astronomy
- 2019
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Ingår i: Publications of the Astronomical Society of the Pacific. - : IOP Publishing. - 0004-6280 .- 1538-3873. ; 131:1002
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Tidskriftsartikel (refereegranskat)abstract
- © 2019. The Astronomical Society of the Pacific. This paper presents a survey of microwave front-end receivers installed at radio telescopes throughout the world. This unprecedented analysis was conducted as part of a review of front-end developments for Italian radio telescopes, initiated by the Italian National Institute for Astrophysics in 2016. Fifteen international radio telescopes have been selected to be representative of the instrumentation used for radio astronomical observations in the frequency domain from 300 MHz to 116 GHz. A comprehensive description of the existing receivers is presented and their characteristics are compared and discussed. The observing performances of the complete receiving chains are also presented. An overview of ongoing developments illustrates and anticipates future trends in front-end projects to meet the most ambitious scientific research goals.
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