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- Thomas, HS, et al.
(författare)
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- 2019
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swepub:Mat__t
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- Lam, MT, et al.
(författare)
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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
- 2019
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Ingår i: The Journal of experimental medicine. - : Rockefeller University Press. - 1540-9538 .- 0022-1007. ; 216:12, s. 2778-2799
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Tidskriftsartikel (refereegranskat)abstract
- Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C) and altered hematopoietic compartment, immune dysregulation, and inflammation. CDC42 mutations had been associated with syndromic neurodevelopmental disorders. In vitro and in vivo assays documented unique effects of p.R186C on CDC42 localization and function, correlating with the distinctiveness of the trait. Emapalumab was critical to the survival of one patient, who underwent successful bone marrow transplantation. Early recognition of the disorder and establishment of treatment followed by bone marrow transplant are important to survival.
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- Shah, S, et al.
(författare)
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Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
- 2020
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 163-
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Tidskriftsartikel (refereegranskat)abstract
- Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies.
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| 10. |
- Franchini, Mariagrazia, et al.
(författare)
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The Gaia-ESO Survey : Carbon Abundance in the Galactic Thin and Thick Disks
- 2020
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Ingår i: Astrophysical Journal. - : IOP PUBLISHING LTD. - 0004-637X .- 1538-4357. ; 888:2
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Tidskriftsartikel (refereegranskat)abstract
- This paper focuses on carbon, which is one of the most abundant elements in the universe and is of high importance in the field of nucleosynthesis and galactic and stellar evolution. The origin of carbon and the relative importance of massive and low- to intermediate-mass stars in producing it is still a matter of debate. We aim at better understanding the origin of carbon by studying the trends of [C/H], [C/Fe], and [C/Mg] versus [Fe/H] and [Mg/H] for 2133 FGK dwarf stars from the fifth Gaia-ESO Survey internal data release (GES iDR5). The availability of accurate parallaxes and proper motions from Gaia DR2 and radial velocities from GES iDR5 allows us to compute Galactic velocities, orbits, absolute magnitudes, and, for 1751 stars, Bayesian-derived ages. Three different selection methodologies have been adopted to discriminate between thin- and thick-disk stars. In all the cases, the two stellar groups show different [C/H], [C/Fe], and [C/Mg] and span different age intervals, with the thick-disk stars being, on average, older than the thin-disk ones. The behaviors of [C/H], [C/Fe], and [C/Mg] versus [Fe/H], [Mg/H], and age all suggest that C is primarily produced in massive stars. The increase of [C/Mg] for young thin-disk stars indicates a contribution from low-mass stars or the increased C production from massive stars at high metallicities due to the enhanced mass loss. The analysis of the orbital parameters R-med and supports an "inside-out" and "upside-down" formation scenario for the disks of the Milky Way.
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- Sarri, Gianluca, et al.
(författare)
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A table-top laser-based source of short, collimated, ultra-relativistic positron beams
- 2013
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Ingår i: Laser Acceleration of Electrons, Protons, and Ions II; and Medical Applications of Laser-Generated Beams of Particles II; and Harnessing Relativistic Plasma Waves III. - : SPIE - International Society for Optical Engineering. - 9780819495815 - 0819495816 ; , s. 87790Z-1-87790Z-7
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Konferensbidrag (refereegranskat)abstract
- An ultra-relativistic electron beam passing through a thick, high-Z solid target triggers an electromagnetic cascade, whereby a large number of high energy photons and electron-positron pairs are produced. By exploiting this physical process, we present here the first experimental evidence of the generation of ultra-short, highly collimated and ultra-relativistic positron beams following the interaction of a laser-wakefield accelerated electron beam with high-Z solid targets. Clear evidence has also been obtained of the generation of GeV electron-positron jets with variable composition depending on the solid target material and thickness. The percentage of positrons in the overall leptonic beam has been observed to vary from a few per cent up to almost fifty per cent, implying a quasi-neutral electron-positron beam. We anticipate that these beams will be of direct relevance to the laboratory study of astrophysical leptonic jets and their interaction with the interstellar medium
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- Sarri, Gianluca, et al.
(författare)
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Laser-driven generation of collimated ultra-relativistic positron beams
- 2013
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Ingår i: Plasma Physics and Controlled Fusion. - London : Institute of Physics (IOP). - 0741-3335 .- 1361-6587. ; 55:12
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Tidskriftsartikel (refereegranskat)abstract
- We report on recent experimental results concerning the generation of collimated (divergence of the order of a few mrad) ultra-relativistic positron beams using a fully optical system. The positron beams are generated exploiting a quantum-electrodynamic cascade initiated by the propagation of a laser-accelerated, ultra-relativistic electron beam through high-Z solid targets. As long as the target thickness is comparable to or smaller than the radiation length of the material, the divergence of the escaping positron beam is of the order of the inverse of its Lorentz factor. For thicker solid targets the divergence is seen to gradually increase, due to the increased number of fundamental steps in the cascade, but it is still kept of the order of few tens of mrad, depending on the spectral components in the beam. This high degree of collimation will be fundamental for further injection into plasma-wakefield afterburners.
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