| 1. |
- Folatelli, Gaston, et al.
(författare)
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UNBURNED MATERIAL IN THE EJECTA OF TYPE Ia SUPERNOVAE
- 2012
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 745:1, s. 74-
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Tidskriftsartikel (refereegranskat)abstract
- The presence of unburned material in the ejecta of normal Type Ia supernovae (SNe Ia) is investigated using early-time spectroscopy obtained by the Carnegie Supernova Project. The tell-tale signature of pristine material from a C+O white dwarf progenitor star is the presence of carbon, as oxygen is also a product of carbon burning. The most prominent carbon lines in optical spectra of SNe Ia are expected to arise from C II. We find that at least 30% of the objects in the sample show an absorption at approximate to 6300 angstrom which is attributed to C II lambda 6580. An alternative identification of this absorption as Ha is considered to be unlikely. These findings imply a larger incidence of carbon in SNe Ia ejecta than previously noted. We show how observational biases and physical conditions may hide the presence of weak C II lines, and account for the scarcity of previous carbon detections in the literature. This relatively large frequency of carbon detections has crucial implications on our understanding of the explosive process. Furthermore, the identification of the 6300 angstrom absorptions as carbon would imply that unburned material is present at very low expansion velocities, merely approximate to 1000 km s(-1) above the bulk of Si II. Based on spectral modeling, it is found that the detections are consistent with a mass of carbon of 10(-3) to 10(-2) M-circle dot. The presence of this material so deep in the ejecta would imply substantial mixing, which may be related to asymmetries of the flame propagation. Another possible explanation for the carbon absorptions may be the existence of clumps of unburned material along the line of sight. However, the uniformity of the relation between C II and Si II velocities is not consistent with such small-scale asymmetries. The spectroscopic and photometric properties of SNe Ia with and without carbon signatures are compared. A trend toward bluer color and lower luminosity at maximum light is found for objects which show carbon.
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| 2. |
- Hansmann, Georg, et al.
(författare)
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2019 updated consensus statement on the diagnosis and treatment of pediatric pulmonary hypertension: The European Pediatric Pulmonary Vascular Disease Network (EPPVDN), endorsed by AEPC, ESPR and ISHLT
- 2019
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Ingår i: The Journal of Heart and Lung Transplantation. - : Elsevier BV. - 1053-2498. ; 38:9, s. 879-901
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Forskningsöversikt (refereegranskat)abstract
- © 2019 The European Pediatric Pulmonary Vascular Disease Network is a registered, non-profit organization that strives to define and develop effective, innovative diagnostic methods and treatment options in all forms of pediatric pulmonary hypertensive vascular disease, including pulmonary hypertension (PH) associated with bronchopulmonary dysplasia, PH associated with congenital heart disease (CHD), persistent PH of the newborn, and related cardiac dysfunction. The executive writing group members conducted searches of the PubMed/MEDLINE bibliographic database (1990–2018) and held face-to-face and web-based meetings. Ten section task forces voted on the updated recommendations, based on the 2016 executive summary. Clinical trials, meta-analyses, guidelines, and other articles that include pediatric data were searched using the term “pulmonary hypertension” and other keywords. Class of recommendation (COR) and level of evidence (LOE) were assigned based on European Society of Cardiology/American Heart Association definitions and on pediatric data only, or on adult studies that included >10% children or studies that enrolled adults with CHD. New definitions by the World Symposium on Pulmonary Hypertension 2018 were included. We generated 10 tables with graded recommendations (COR/LOE). The topics include diagnosis/monitoring, genetics/biomarkers, cardiac catheterization, echocardiography, cardiac magnetic resonance/chest computed tomography, associated forms of PH, intensive care unit/lung transplantation, and treatment of pediatric PH. For the first time, a set of specific recommendations on the management of PH in middle- and low-income regions was developed. Taken together, these executive, up-to-date guidelines provide a specific, comprehensive, detailed but practical framework for the optimal clinical care of children and young adults with PH.
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| 3. |
- Turro, Ernest, et al.
(författare)
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Whole-genome sequencing of patients with rare diseases in a national health system.
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 583:7814, s. 96-102
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Tidskriftsartikel (refereegranskat)abstract
- Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065extensively phenotypedparticipants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data ofUK Biobankparticipants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.
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