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Sökning: WFRF:(Nemeth T)

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1.
  • Thomas, HS, et al. (författare)
  • 2019
  • swepub:Mat__t
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  • Bécoulet, A., et al. (författare)
  • Science and technology research and development in support to ITER and the Broader Approach at CEA
  • 2013
  • Ingår i: Nuclear Fusion. - : IOP Publishing. - 1741-4326 .- 0029-5515. ; 53:10
  • Tidskriftsartikel (refereegranskat)abstract
    • In parallel to the direct contribution to the procurement phase of ITER and Broader Approach, CEA has initiated research & development programmes, accompanied by experiments together with a significant modelling effort, aimed at ensuring robust operation, plasma performance, as well as mitigating the risks of the procurement phase. This overview reports the latest progress in both fusion science and technology including many areas, namely the mitigation of superconducting magnet quenches, disruption-generated runaway electrons, edge-localized modes (ELMs), the development of imaging surveillance, and heating and current drive systems for steady-state operation. The WEST (W Environment for Steady-state Tokamaks) project, turning Tore Supra into an actively cooled W-divertor platform open to the ITER partners and industries, is presented.
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  • Galan, C., et al. (författare)
  • International observational campaigns of the last two eclipses in EE Cephei : 2003 and 2008/9
  • 2012
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 544, s. A53-
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. EECep is an unusual long-period (5.6 yr) eclipsing binary discovered during the mid-twentieth century. It undergoes almost-grey eclipses that vary in terms of both depth and duration at different epochs. The system consists of a Be type star and a dark dusty disk around an invisible companion. EECep together with the widely studied epsilon Aur are the only two known cases of long-period eclipsing binaries with a dark, dusty disk component responsible for periodic obscurations.Aims. Two observational campaigns were carried out during the eclipses of EECep in 2003 and 2008/9 to verify whether the eclipsing body in the system is indeed a dark disk and to understand the observed changes in the depths and durations of the eclipses.Methods. Multicolour photometric data and spectroscopic observations performed at both low and high resolutions were collected with several dozen instruments located in Europe and North America. We numerically modelled the variations in brightness and colour during the eclipses. We tested models with different disk structure, taking into consideration the inhomogeneous surface brightness of the Be star. We considered the possibility of disk precession.Results. The complete set of observational data collected during the last three eclipses are made available to the astronomical community. The 2003 and 2008/9 eclipses of EECep were very shallow. The latter is the shallowest among all observed. The very high quality photometric data illustrate in detail the colour evolution during the eclipses for the first time. Two blue maxima in the colour indices were detected during these two eclipses, one before and one after the photometric minimum. The first (stronger) blue maximum is simultaneous with a "bump" that is very clear in all the UBV(RI)(C) light curves. A temporary increase in the I-band brightness at the orbital phase similar to 0.2 was observed after each of the last three eclipses. Variations in the spectral line profiles seem to be recurrent during each cycle. The Na I lines always show at least three absorption components during the eclipse minimum and strong absorption is superimposed on the H alpha emission.Conclusions. These observations confirm that the eclipsing object in EECep system is indeed a dark, dusty disk around a low luminosity object. The primary appears to be a rapidly rotating Be star that is strongly darkened at the equator and brightened at the poles. Some of the conclusions of this work require verification in future studies: (i) a complex, possibly multi-ring structure of the disk in EECep; (ii) our explanation of the "bump" observed during the last two eclipses in terms of the different times of obscuration of the hot polar regions of the Be star by the disk; and (iii) our suggested period of the disk precession (similar to 11-12 P-orb) and predicted depth of about 2(m) for the forthcoming eclipse in 2014.
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  • Burrascano, S., et al. (författare)
  • Where are we now with European forest multi-taxon biodiversity and where can we head to?
  • 2023
  • Ingår i: Biological Conservation. - 0006-3207. ; 284
  • Tidskriftsartikel (refereegranskat)abstract
    • The European biodiversity and forest strategies rely on forest sustainable management (SFM) to conserve forest biodiversity. However, current sustainability assessments hardly account for direct biodiversity indicators. We focused on forest multi-taxon biodiversity to: i) gather and map the existing information; ii) identify knowledge and research gaps; iii) discuss its research potential. We established a research network to fit data on species, standing trees, lying deadwood and sampling unit description from 34 local datasets across 3591 sampling units. A total of 8724 species were represented, with the share of common and rare species varying across taxonomic classes: some included many species with several rare ones (e.g., Insecta); others (e.g., Bryopsida) were repre-sented by few common species. Tree-related structural attributes were sampled in a subset of sampling units (2889; 2356; 2309 and 1388 respectively for diameter, height, deadwood and microhabitats). Overall, multi-taxon studies are biased towards mature forests and may underrepresent the species related to other develop-mental phases. European forest compositional categories were all represented, but beech forests were over-represented as compared to thermophilous and boreal forests. Most sampling units (94%) were referred to a habitat type of conservation concern. Existing information may support European conservation and SFM stra-tegies in: (i) methodological harmonization and coordinated monitoring; (ii) definition and testing of SFM in-dicators and thresholds; (iii) data-driven assessment of the effects of environmental and management drivers on multi-taxon forest biological and functional diversity, (iv) multi-scale forest monitoring integrating in-situ and remotely sensed information.
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  • Zheng, TH, et al. (författare)
  • Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease
  • 2021
  • Ingår i: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 70:8, s. 1538-1549
  • Tidskriftsartikel (refereegranskat)abstract
    • Haemorrhoidal disease (HEM) affects a large and silently suffering fraction of the population but its aetiology, including suspected genetic predisposition, is poorly understood. We report the first genome-wide association study (GWAS) meta-analysis to identify genetic risk factors for HEM to date.DesignWe conducted a GWAS meta-analysis of 218 920 patients with HEM and 725 213 controls of European ancestry. Using GWAS summary statistics, we performed multiple genetic correlation analyses between HEM and other traits as well as calculated HEM polygenic risk scores (PRS) and evaluated their translational potential in independent datasets. Using functional annotation of GWAS results, we identified HEM candidate genes, which differential expression and coexpression in HEM tissues were evaluated employing RNA-seq analyses. The localisation of expressed proteins at selected loci was investigated by immunohistochemistry.ResultsWe demonstrate modest heritability and genetic correlation of HEM with several other diseases from the GI, neuroaffective and cardiovascular domains. HEM PRS validated in 180 435 individuals from independent datasets allowed the identification of those at risk and correlated with younger age of onset and recurrent surgery. We identified 102 independent HEM risk loci harbouring genes whose expression is enriched in blood vessels and GI tissues, and in pathways associated with smooth muscles, epithelial and endothelial development and morphogenesis. Network transcriptomic analyses highlighted HEM gene coexpression modules that are relevant to the development and integrity of the musculoskeletal and epidermal systems, and the organisation of the extracellular matrix.ConclusionHEM has a genetic component that predisposes to smooth muscle, epithelial and connective tissue dysfunction.
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  • Crous, P. W., et al. (författare)
  • Fungal Planet description sheets : 951-1041
  • 2019
  • Ingår i: Persoonia. - : RIJKSHERBARIUM. - 0031-5850 .- 1878-9080. ; 43, s. 223-425
  • Tidskriftsartikel (refereegranskat)abstract
    • Novel species of fungi described in this study include those from various countries as follows: Antarctica,Apenidiella antarctica from permafrost, Cladosporium fildesense from an unidentified marine sponge. Argentina,Geastrum wrightii on humus in mixed forest. Australia, Golovinomyces glandulariae on Glandularia aristigera,Neoanungitea eucalyptorum on leaves of Eucalyptus grandis, Teratosphaeria corymbiicola on leaves of Corymbiaficifolia, Xylaria eucalypti on leaves of Eucalyptus radiata. Brazil, Bovista psammophila on soil, Fusarium awaxy onrotten stalks of Zea mays, Geastrum lanuginosum on leaf litter covered soil, Hermetothecium mikaniae-micranthae(incl. Hermetothecium gen. nov.) on Mikania micrantha, Penicillium reconvexovelosoi in soil, Stagonosporopsis vannacciifrom pod of Glycine max. British Virgin Isles, Lactifluus guanensis on soil. Canada, Sorocybe oblongisporaon resin of Picea rubens. Chile, Colletotrichum roseum on leaves of Lapageria rosea. China, Setophoma cavernafrom carbonatite in Karst cave. Colombia, Lareunionomyces eucalypticola on leaves of Eucalyptus grandis. CostaRica, Psathyrella pivae on wood. Cyprus, Clavulina iris on calcareous substrate. France, Chromosera ambiguaand Clavulina iris var. occidentalis on soil. French West Indies, Helminthosphaeria hispidissima on dead wood.Guatemala, Talaromyces guatemalensis in soil. Malaysia, Neotracylla pini (incl. Tracyllales ord. nov. and Neotracyllagen. nov.) and Vermiculariopsiella pini on needles of Pinus tecunumanii. New Zealand, Neoconiothyriumviticola on stems of Vitis vinifera, Parafenestella pittospori on Pittosporum tenuifolium, Pilidium novae-zelandiaeon Phoenix sp. Pakistan, Russula quercus-floribundae on forest floor. Portugal, Trichoderma aestuarinum fromsaline water. Russia, Pluteus liliputianus on fallen branch of deciduous tree, Pluteus spurius on decaying deciduous wood or soil. South Africa, Alloconiothyrium encephalarti, Phyllosticta encephalarticola and Neothyrostromaencephalarti (incl. Neothyrostroma gen. nov.) on leaves of Encephalartos sp., Chalara eucalypticola on leaf spots ofEucalyptus grandis x urophylla, Clypeosphaeria oleae on leaves of Olea capensis, Cylindrocladiella postalofficiumon leaf litter of Sideroxylon inerme, Cylindromonium eugeniicola (incl. Cylindromonium gen. nov.) on leaf litter ofEugenia capensis, Cyphellophora goniomatis on leaves of Gonioma kamassi, Nothodactylaria nephrolepidis (incl.Nothodactylaria gen. nov. and Nothodactylariaceae fam. nov.) on leaves of Nephrolepis exaltata, Falcocladiumeucalypti and Gyrothrix eucalypti on leaves of Eucalyptus sp., Gyrothrix oleae on leaves of Olea capensis subsp.macrocarpa, Harzia metro-sideri on leaf litter of Metrosideros sp., Hippopotamyces phragmitis (incl. Hippopotamycesgen. nov.) on leaves of Phragmites australis, Lectera philenopterae on Philenoptera violacea, Leptosilliamayteni on leaves of Maytenus heterophylla, Lithohypha aloicola and Neoplatysporoides aloes on leaves of Aloesp., Millesimomyces rhoicissi (incl. Millesimomyces gen. nov.) on leaves of Rhoicissus digitata, Neodevriesiastrelitziicola on leaf litter of Strelitzia nicolai, Neokirramyces syzygii (incl. Neokirramyces gen. nov.) on leaf spots of Syzygium sp., Nothoramichloridium perseae (incl. Nothoramichloridium gen. nov. and Anungitiomycetaceae fam.nov.) on leaves of Persea americana, Paramycosphaerella watsoniae on leaf spots of Watsonia sp., Penicilliumcuddlyae from dog food, Podocarpomyces knysnanus (incl. Podocarpomyces gen. nov.) on leaves of Podocarpusfalcatus, Pseudocercospora heteropyxidicola on leaf spots of Heteropyxis natalensis, Pseudopenidiella podocarpi,Scolecobasidium podocarpi and Ceramothyrium podocarpicola on leaves of Podocarpus latifolius, Scolecobasidiumblechni on leaves of Blechnum capense, Stomiopeltis syzygii on leaves of Syzygium chordatum, Strelitziomycesknysnanus (incl. Strelitziomyces gen. nov.) on leaves of Strelitzia alba, Talaromyces clemensii from rotting wood ingoldmine, Verrucocladosporium visseri on Carpobrotus edulis. Spain, Boletopsis mediterraneensis on soil, Calycinacortegadensisi on a living twig of Castanea sativa, Emmonsiellopsis tuberculata in fluvial sediments, Mollisia cortegadensison dead attached twig of Quercus robur, Psathyrella ovispora on soil, Pseudobeltrania lauri on leaf litterof Laurus azorica, Terfezia dunensis in soil, Tuber lucentum in soil, Venturia submersa on submerged plant debris.Thailand, Cordyceps jakajanicola on cicada nymph, Cordyceps kuiburiensis on spider, Distoseptispora caricis onleaves of Carex sp., Ophiocordyceps khonkaenensis on cicada nymph. USA, Cytosporella juncicola and Davidiellomycesjuncicola on culms of Juncus effusus, Monochaetia massachusettsianum from air sample, Neohelicomycesmelaleucae and Periconia neobrittanica on leaves of Melaleuca styphelioides x lanceolata, Pseudocamarosporiumeucalypti on leaves of Eucalyptus sp., Pseudogymnoascus lindneri from sediment in a mine, Pseudogymnoascusturneri from sediment in a railroad tunnel, Pulchroboletus sclerotiorum on soil, Zygosporium pseudomasonii onleaf of Serenoa repens. Vietnam, Boletus candidissimus and Veloporphyrellus vulpinus on soil. Morphological andculture characteristics are supported by DNA barcodes.
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  • Fritzell, Peter, et al. (författare)
  • Cost-effectiveness of lumbar fusion and nonsurgical treatment for chronic low back pain in the Swedish lumbar spine study : A multicenter, randomized, controlled trial from the Swedish Lumbar Spine Study Group
  • 2004
  • Ingår i: Spine. - : Lippincott Williams & Wilkins. - 0362-2436 .- 1528-1159. ; 29:4, s. 421-434
  • Tidskriftsartikel (refereegranskat)abstract
    • Study Design. A cost-effectiveness study was performed from the societal and health care perspectives. Objective. To evaluate the costs-effectiveness of lumbar fusion for chronic low back pain (CLBP) during a 2-year follow-up. Summary of Background Data. A full economic evaluation comparing costs related to treatment effects in patients with CLBP is lacking. Patients and Methods. A total of 284 of 294 patients with CLBP for at least 2 years were randomized to either lumbar fusion or a nonsurgical control group. Costs for the health care sector ( direct costs), and costs associated with production losses ( indirect costs) were calculated. Societal total costs were identified as the sum of direct and indirect costs. Treatment effects were measured using patient global assessment of improvement, back pain ( VAS), functional disability (Owestry), and return to work. Results. The societal total cost per patient ( standard deviations) in the surgical group was significantly higher than in the nonsurgical group: Swedish kroner (SEK) 704,000 ( 254,000) vs. SEK 636,000 ( 208,000). The cost per patient for the health care sector was significantly higher for the surgical group, SEK 123,000 ( 60,100) vs. 65,200 ( 38,400) for the control group. All treatment effects were significantly better after surgery. The incremental cost-effectiveness ratio ( ICER), illustrating the extra cost per extra effect unit gained by using fusion instead of nonsurgical treatment, were for improvement: SEK 2,600 ( 600 - 5,900), for back pain: SEK 5,200 ( 1,100 - 11,500), for Oswestry: SEK 11,300 ( 1,200 - 48,000), and for return to work: SEK 4,100 ( 100 21,400). Conclusion. For both the society and the health care sectors, the 2-year costs for lumbar fusion was significantly higher compared with nonsurgical treatment but all treatment effects were significantly in favor of surgery. The probability of lumbar fusion being cost-effective increased with the value put on extra effect units gained by using surgery.
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  • Kuschmierz, Paul, et al. (författare)
  • European first-year university students accept evolution but lack substantial knowledge about it : A standardized European cross-country assessment
  • 2021
  • Ingår i: Evolution. - : BioMed Central (BMC). - 1936-6426 .- 1936-6434. ; 14:1, s. 1-22
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Investigations of evolution knowledge and acceptance and their relation are central to evolution education research. Ambiguous results in this field of study demonstrate a variety of measuring issues, for instance differently theorized constructs, or a lack of standardized methods, especially for cross-country comparisons. In particular, meaningful comparisons across European countries, with their varying cultural backgrounds and education systems, are rare, often include only few countries, and lack standardization. To address these deficits, we conducted a standardized European survey, on 9200 first-year university students in 26 European countries utilizing a validated, comprehensive questionnaire, the “Evolution Education Questionnaire”, to assess evolution acceptance and knowledge, as well as influencing factors on evolution acceptance. Results: We found that, despite European countries’ different cultural backgrounds and education systems, European first-year university students generally accept evolution. At the same time, they lack substantial knowledge about it, even if they are enrolled in a biology-related study program. Additionally, we developed a multilevel-model that determines religious faith as the main influencing factor in accepting evolution. According to our model, knowledge about evolution and interest in biological topics also increase acceptance of evolution, but to a much lesser extent than religious faith. The effect of age and sex, as well as the country’s affiliation, students’ denomination, and whether or not a student is enrolled in a biology-related university program, is negligible. Conclusions: Our findings indicate that, despite all their differences, most of the European education systems for upper secondary education lead to acceptance of evolution at least in university students. It appears that, at least in this sample, the differences in knowledge between countries reflect neither the extent to which school curricula cover evolutionary biology nor the percentage of biology-related students in the country samples. Future studies should investigate the role of different European school curricula, identify particularly problematic or underrepresented evolutionary concepts in biology education, and analyze the role of religious faith when teaching evolution.
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  • Malenicka, S., et al. (författare)
  • Impaired intention-to-treat survival after listing for liver transplantation in children with biliary atresia compared to other chronic liver diseases : 20 years' experience from the Nordic countries
  • 2017
  • Ingår i: Pediatric Transplantation. - : Wiley. - 1397-3142 .- 1399-3046. ; 21:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Biliary atresia (BA) is the most common indication for LT in children. We investigated whether this diagnosis per se, compared to other chronic liver diseases (OCLD), had an influence on patient survival. Data from 421 Scandinavian children, 194 with BA and 227 with OCLD, listed for LT between 1990 and 2010 were analyzed. The intention-to-treat survival and influencing risk factors were studied. Patients with BA had higher risk of death after listing than patients with OCLD. The youngest (< 1 year) and smallest (< 10 kg) children with the highest bilirubin (> 510 mu mol/L), highest INR (> 1.6), and highest PELD score (> 20) listed during 1990s had the worst outcome. Given the same PELD score, patients with BA had higher risk of death than patients with OCLD. For adolescents, low weight/BMI was the only prognostic marker. Impaired intention-to-treat survival in patients with BA was mainly explained by more advanced liver disease in younger ages and higher proportion of young children in the BA group rather than diagnosis per se. PELD score predicted death, but seemed to underestimate the severity of liver disease in patients with BA. Poor nutritional status and severe cholestasis had negative impact on survival, supporting the "sickest children first" allocation policy and correction of malnutrition before surgery.
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  • Mandt, K. E., et al. (författare)
  • RPC observation of the development and evolution of plasma interaction boundaries at 67P/Churyumov-Gerasimenko
  • 2016
  • Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 462, s. S9-S22
  • Tidskriftsartikel (refereegranskat)abstract
    • One of the primary objectives of the Rosetta Plasma Consortium, a suite of five plasma instruments on-board the Rosetta spacecraft, is to observe the formation and evolution of plasma interaction regions at the comet 67P/Churyumov-Gerasimenko (67P/CG). Observations made between 2015 April and 2016 February show that solar wind-cometary plasma interaction boundaries and regions formed around 2015 mid-April and lasted through early 2016 January. At least two regions were observed, separated by an ion-neutral collisionopause boundary. The inner region was located on the nucleus side of the boundary and was characterized by low-energy water-group ions, reduced magnetic field pileup and enhanced electron densities. The outer region was located outside of the boundary and was characterized by reduced electron densities, water-group ions that are accelerated to energies above 100 eV and enhanced magnetic field pileup compared to the inner region. The boundary discussed here is outside of the diamagnetic cavity and shows characteristics similar to observations made on-board the Giotto spacecraft in the ion pileup region at 1P/Halley. We find that the boundary is likely to be related to ion-neutral collisions and that its location is influenced by variability in the neutral density and the solar wind dynamic pressure.
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  • Nilsson, Hans, et al. (författare)
  • Evolution of the ion environment of comet 67P/Churyumov-Gerasimenko
  • 2015
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 583
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. The Rosetta spacecraft is escorting comet 67P/Churyumov-Gerasimenko from a heliocentric distance of >3.6 AU, where the comet activity was low, until perihelion at 1.24 AU. Initially, the solar wind permeates the thin comet atmosphere formed from sublimation. Aims. Using the Rosetta Plasma Consortium Ion Composition Analyzer (RPC-ICA), we study the gradual evolution of the comet ion environment, from the first detectable traces of water ions to the stage where cometary water ions accelerated to about 1 keV energy are abundant. We compare ion fluxes of solar wind and cometary origin. Methods. RPC-ICA is an ion mass spectrometer measuring ions of solar wind and cometary origins in the 10 eV-40 keV energy range. Results. We show how the flux of accelerated water ions with energies above 120 eV increases between 3.6 and 2.0 AU. The 24 h average increases by 4 orders of magnitude, mainly because high-flux periods become more common. The water ion energy spectra also become broader with time. This may indicate a larger and more uniform source region. At 2.0 AU the accelerated water ion flux is frequently of the same order as the solar wind proton flux. Water ions of 120 eV-few keV energy may thus constitute a significant part of the ions sputtering the nucleus surface. The ion density and mass in the comet vicinity is dominated by ions of cometary origin. The solar wind is deflected and the energy spectra broadened compared to an undisturbed solar wind. Conclusions. The flux of accelerated water ions moving from the upstream direction back toward the nucleus is a strongly nonlinear function of the heliocentric distance.
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  • Pagnamenta, A. T., et al. (författare)
  • An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
  • 2021
  • Ingår i: Brain : a journal of neurology. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 144, s. 584-600
  • Tidskriftsartikel (refereegranskat)abstract
    • The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease. By interrogating the genome sequences of 74 180 individuals from the 100K Genomes Project in combination with international gene-matching efforts and targeted sequencing, we identified 17 individuals from 15 families with an autosomal-recessive, non-length dependent, hereditary motor neuropathy and rare biallelic variants in VWA1. A single disease-associated allele p.(G25Rfs*74), a 10-bp repeat expansion, was observed in 14/15 families and was homozygous in 10/15. Given an allele frequency in European populations approaching 1/1000, the seven unrelated homozygote individuals ascertained from the 100K Genomes Project represents a substantial enrichment above expected. Haplotype analysis identified a shared 220 kb region suggesting that this founder mutation arose 47000 years ago. A wide age-range of patients (6-83 years) helped delineate the clinical phenotype over time. The commonest disease presentation in the cohort was an early-onset (mean 2.0 +/- 1.4 years) non-length-dependent axonal hereditary motor neuropathy, confirmed on electrophysiology, which will have to be differentiated from other predominantly or pure motor neuropathies and neuronopathies. Because of slow disease progression, ambulation was largely preserved. Neurophysiology, muscle histopathology, and muscle MRI findings typically revealed clear neurogenic changes with single isolated cases displaying additional myopathic process. We speculate that a few findings of myopathic changes might be secondary to chronic denervation rather than indicating an additional myopathic disease process. Duplex reverse transcription polymerase chain reaction and immunoblotting using patient fibroblasts revealed that the founder allele results in partial nonsense mediated decay and an absence of detectable protein. CRISPR and morpholino vwa1 modelling in zebrafish demonstrated reductions in motor neuron axonal growth, synaptic formation in the skeletal muscles and locomotive behaviour. In summary, we estimate that biallelic variants in VWA1 may be responsible for up to 1% of unexplained hereditary motor neuropathy cases in Europeans. The detailed clinical characterization provided here will facilitate targeted testing on suitable patient cohorts. This novel disease gene may have previously evaded detection because of high GC content, consequential low coverage and computational difficulties associated with robustly detecting repeat-expansions. Reviewing previously unsolved exomes using lower QC filters may generate further diagnoses.
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  • Behar, Etienne, et al. (författare)
  • Mass loading at 67P/Churyumov-Gerasimenko : A case study
  • 2016
  • Ingår i: Geophysical Research Letters. - 0094-8276 .- 1944-8007. ; 43:4, s. 1411-1418
  • Tidskriftsartikel (refereegranskat)abstract
    • We study the dynamics of the interaction between the solar wind ions and a partially ionized atmosphere around a comet, at a distance of 2.88 AU from the Sun during a period of low nucleus activity. Comparing particle data and magnetic field data for a case study, we highlight the prime role of the solar wind electric field in the cometary ion dynamics. Cometary ion and solar wind proton flow directions evolve in a correlated manner, as expected from the theory of mass loading. We find that the main component of the accelerated cometary ion flow direction is along the antisunward direction and not along the convective electric field direction. This is interpreted as the effect of an antisunward polarization electric field adding up to the solar wind convective electric field.
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  • Biasin, Elisa, et al. (författare)
  • Femtosecond X-Ray Scattering Study of Ultrafast Photoinduced Structural Dynamics in Solvated[Co(terpy)2]2$
  • 2016
  • Ingår i: Physical Review Letters. - : American Physical Society (APS). - 1079-7114 .- 0031-9007. ; 117:1
  • Tidskriftsartikel (refereegranskat)abstract
    • We study the structural dynamics of photoexcited [Co(terpy)2]2+ in an aqueous solution with ultrafast x-ray diffuse scattering experiments conducted at the Linac Coherent Light Source. Through direct comparisons with density functional theory calculations, our analysis shows that the photoexcitation event leads to elongation of the Co-N bonds, followed by coherent Co-N bond length oscillations arising from the impulsive excitation of a vibrational mode dominated by the symmetrical stretch of all six Co-N bonds. This mode has a period of 0.33 ps and decays on a subpicosecond time scale. We find that the equilibrium bond-elongated structure of the high spin state is established on a single-picosecond time scale and that this state has a lifetime of ∼7 ps.
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  • Broiles, Thomas W., et al. (författare)
  • Statistical analysis of suprathermal electron drivers at 67P/Churyumov-Gerasimenko
  • 2016
  • Ingår i: Monthly notices of the Royal Astronomical Society. - : OXFORD UNIV PRESS. - 0035-8711 .- 1365-2966. ; 462, s. S312-S322
  • Tidskriftsartikel (refereegranskat)abstract
    • We use observations from the Ion and Electron Sensor (IES) on board the Rosetta spacecraft to study the relationship between the cometary suprathermal electrons and the drivers that affect their density and temperature. We fit the IES electron observations with the summation of two kappa distributions, which we characterize as a dense and warm population (similar to 10 cm(-3) and similar to 16 eV) and a rarefied and hot population (similar to 0.01 cm(-3) and similar to 43 eV). The parameters of our fitting technique determine the populations' density, temperature, and invariant kappa index. We focus our analysis on the warm population to determine its origin by comparing the density and temperature with the neutral density and magnetic field strength. We find that the warm electron population is actually two separate sub-populations: electron distributions with temperatures above 8.6 eV and electron distributions with temperatures below 8.6 eV. The two sub-populations have different relationships between their density and temperature. Moreover, the two sub-populations are affected by different drivers. The hotter sub-population temperature is strongly correlated with neutral density, while the cooler sub-population is unaffected by neutral density and is only weakly correlated with magnetic field strength. We suggest that the population with temperatures above 8.6 eV is being heated by lower hybrid waves driven by counterstreaming solar wind protons and newly formed, cometary ions created in localized, dense neutral streams. To the best of our knowledge, this represents the first observations of cometary electrons heated through wave-particle interactions.
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  • Callaghan, D. A., et al. (författare)
  • Geographic range and population size of the habitat specialist Codonoblepharon forsteri in a changing climate
  • 2022
  • Ingår i: Journal of Bryology. - 0373-6687 .- 1743-2820. ; 44:1, s. 35-40
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Codonoblepharon forsteri is a rare epiphytic moss characteristically associated with water-filled holes in trees. This study aims to review its range and population and assess effects of climate change.Methods: An inventory of sites from where C. forsteri has been recorded was compiled. Extent of Occurrence (EOO) and Area of Occupancy (AOO) were calculated. Population size was estimated, using an occupied tree as an ‘individual-equivalent’ of the moss. Climatic conditions of its current distribution were characterised, and an ensemble model of its distribution generated. The latter was projected onto present and future climatic layers.Results: C. forsteri has been recorded from 205 sites in 18 countries, in Europe, N Africa and SW Asia. It has been undergoing an overall decline. Most sites have few occupied trees, and a world population of 1000–10,000 individual-equivalents is estimated. Model projections suggest the species will experience a range increase of +0.27–0.78 by 2050 and +0.34–0.97 by 2070, especially in the NW, in particular across France and the UK. Range loss is predicted to be -0.16–0.23 in 2050 and -0.18–0.32 in 2070, affecting the driest areas of the current range around the Mediterranean, especially in N Africa.Conclusions: C. forsteri has a relatively large EOO but a relatively small AOO, likely the product of its habitat specialism. A major reason for recent declines appears to be widespread abandonment of traditional ‘pollarding’ of trees. The potential climatic range of the species will shift significantly northwards over the next few decades
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39.
  • Edberg, Niklas J. T., et al. (författare)
  • Solar wind interaction with comet 67P : Impacts of corotating interaction regions
  • 2016
  • Ingår i: Journal of Geophysical Research - Space Physics. - 2169-9380 .- 2169-9402. ; 121:2, s. 949-965
  • Tidskriftsartikel (refereegranskat)abstract
    • We present observations from the Rosetta Plasma Consortium of the effects of stormy solar wind on comet 67P/Churyumov-Gerasimenko. Four corotating interaction regions (CIRs), where the first event has possibly merged with a coronal mass ejection, are traced from Earth via Mars (using Mars Express and Mars Atmosphere and Volatile EvolutioN mission) to comet 67P from October to December 2014. When the comet is 3.1-2.7AU from the Sun and the neutral outgassing rate approximate to 10(25)-10(26)s(-1), the CIRs significantly influence the cometary plasma environment at altitudes down to 10-30km. The ionospheric low-energy (approximate to 5eV) plasma density increases significantly in all events, by a factor of >2 in events 1 and 2 but less in events 3 and 4. The spacecraft potential drops below -20V upon impact when the flux of electrons increases. The increased density is likely caused by compression of the plasma environment, increased particle impact ionization, and possibly charge exchange processes and acceleration of mass-loaded plasma back to the comet ionosphere. During all events, the fluxes of suprathermal (approximate to 10-100eV) electrons increase significantly, suggesting that the heating mechanism of these electrons is coupled to the solar wind energy input. At impact the magnetic field strength in the coma increases by a factor of 2-5 as more interplanetary magnetic field piles up around the comet. During two CIR impact events, we observe possible plasma boundaries forming, or moving past Rosetta, as the strong solar wind compresses the cometary plasma environment. We also discuss the possibility of seeing some signatures of the ionospheric response to tail disconnection events.
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40.
  • Edberg, Niklas J. T., et al. (författare)
  • Spatial distribution of low-energy plasma around comet 67P/CG from Rosetta measurements
  • 2015
  • Ingår i: Geophysical Research Letters. - 0094-8276 .- 1944-8007. ; 42:11, s. 4263-4269
  • Tidskriftsartikel (refereegranskat)abstract
    • We use measurements from the Rosetta plasma consortium Langmuir probe and mutual impedance probe to study the spatial distribution of low-energy plasma in the near-nucleus coma of comet 67P/Churyumov-Gerasimenko. The spatial distribution is highly structured with the highest density in the summer hemisphere and above the region connecting the two main lobes of the comet, i.e., the neck region. There is a clear correlation with the neutral density and the plasma to neutral density ratio is found to be approximate to 1-210(-6), at a cometocentric distance of 10km and at 3.1AU from the Sun. A clear 6.2h modulation of the plasma is seen as the neck is exposed twice per rotation. The electron density of the collisionless plasma within 260km from the nucleus falls off with radial distance as approximate to 1/r. The spatial structure indicates that local ionization of neutral gas is the dominant source of low-energy plasma around the comet.
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41.
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42.
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43.
  • Hajra, Rajkumar, et al. (författare)
  • Dynamic unmagnetized plasma in the diamagnetic cavity around comet 67P/Churyumov-Gerasimenko
  • 2018
  • Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press. - 0035-8711 .- 1365-2966. ; 475:3, s. 4140-4147
  • Tidskriftsartikel (refereegranskat)abstract
    • The Rosetta orbiter witnessed several hundred diamagnetic cavity crossings (unmagnetized regions) around comet 67P/Churyumov-Gerasimenko during its two year survey of the comet. The characteristics of the plasma environment inside these diamagnetic regions are studied using in situ measurements by the Rosetta Plasma Consortium instruments. Although the unmagnetized plasma density has been observed to exhibit little dynamics compared to the very dynamical magnetized cometary plasma, we detected several localized dynamic plasma structures inside those diamagnetic regions. These plasma structures are not related to the direct ionization of local cometary neutrals. The structures are found to be steepened, asymmetric plasma enhancements with typical rising-to-descending slope ratio of similar to 2.8 (+/- 1.9), skewness similar to 0.43 (+/- 0.36), mean duration of similar to 2.7 (+/- 0.9) min and relative density variation Delta N/N of similar to 0.5 (+/- 0.2), observed close to the electron exobase. Similar steepened plasma density enhancements were detected at the magnetized boundaries of the diamagnetic cavity as well as outside the diamagnetic region. The plausible scalelength and propagation direction of the structures are estimated from simple plasma dynamics considerations. It is suggested that they are large-scale unmagnetized plasma enhancements, transmitted from the very dynamical outer magnetized region to the inner magnetic field-free cavity region.
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44.
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45.
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46.
  • Kamp, JC, et al. (författare)
  • Fibrosis-Related Gene Profiling in Liver Biopsies of PiZZ α1-Antitrypsin Children with Different Clinical Courses
  • 2023
  • Ingår i: International journal of molecular sciences. - : MDPI AG. - 1422-0067. ; 24:3
  • Tidskriftsartikel (refereegranskat)abstract
    • PiZZ (Glu342Lys) α1-antitrypsin deficiency (AATD) is characterized by intrahepatic AAT polymerization and is a risk factor for liver disease development in children. The majority of PiZZ children are disease free, hence this mutation alone is not sufficient to cause the disease. We investigated Z-AAT polymers and the expression of fibrosis-related genes in liver tissues of PiZZ children with different clinical courses. Liver biopsies obtained during 1979–2010 at the Department of Paediatrics, Karolinska University Hospital, Sweden, were subjected to histological re-evaluation, immunohistochemistry and NanoString-based transcriptome profiling using a panel of 760 fibrosis plus 8 bile acid-related genes. Subjects were divided into three groups based on clinical outcomes: NCH (neonatal cholestasis, favourable outcome, n = 5), NCC (neonatal cholestasis, early cirrhosis and liver transplantation, n = 4), and NNCH (no neonatal cholestasis, favourable outcome, n = 5, six biopsies). Hepatocytes containing Z-AAT polymers were abundant in all groups whereas NCC showed higher expression of genes related to liver fibrosis/cirrhosis and lower expression of genes related to lipid, aldehyde/ketone, and bile acid metabolism. Z-AAT accumulation per se cannot explain the clinical outcomes of PiZZ children; however, changes in the expression of specific genes and pathways involved in lipid, fatty acid, and steroid metabolism appear to reflect the degree of liver injury.
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47.
  • Kjær, Kasper S., et al. (författare)
  • Finding intersections between electronic excited state potential energy surfaces with simultaneous ultrafast X-ray scattering and spectroscopy
  • 2019
  • Ingår i: Chemical Science. - : Royal Society of Chemistry (RSC). - 2041-6520 .- 2041-6539. ; 10:22, s. 5749-5760
  • Tidskriftsartikel (refereegranskat)abstract
    • Light-driven molecular reactions are dictated by the excited state potential energy landscape, depending critically on the location of conical intersections and intersystem crossing points between potential surfaces where non-adiabatic effects govern transition probabilities between distinct electronic states. While ultrafast studies have provided significant insight into electronic excited state reaction dynamics, experimental approaches for identifying and characterizing intersections and seams between electronic states remain highly system dependent. Here we show that for 3d transition metal systems simultaneously recorded X-ray diffuse scattering and X-ray emission spectroscopy at sub-70 femtosecond time-resolution provide a solid experimental foundation for determining the mechanistic details of excited state reactions. In modeling the mechanistic information retrieved from such experiments, it becomes possible to identify the dominant trajectory followed during the excited state cascade and to determine the relevant loci of intersections between states. We illustrate our approach by explicitly mapping parts of the potential energy landscape dictating the light driven low-to-high spin-state transition (spin crossover) of [Fe(2,2′-bipyridine)3]2+, where the strongly coupled nuclear and electronic dynamics have been a source of interest and controversy. We anticipate that simultaneous X-ray diffuse scattering and X-ray emission spectroscopy will provide a valuable approach for mapping the reactive trajectories of light-triggered molecular systems involving 3d transition metals.
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48.
  • Kjær, Kasper S., et al. (författare)
  • Solvent control of charge transfer excited state relaxation pathways in [Fe(2,2′-bipyridine)(CN)4]2-
  • 2018
  • Ingår i: Physical Chemistry Chemical Physics. - : Royal Society of Chemistry (RSC). - 1463-9076 .- 1463-9084. ; 20:6, s. 4238-4249
  • Tidskriftsartikel (refereegranskat)abstract
    • The excited state dynamics of solvated [Fe(bpy)(CN)4]2-, where bpy = 2,2′-bipyridine, show significant sensitivity to the solvent Lewis acidity. Using a combination of optical absorption and X-ray emission transient spectroscopies, we have previously shown that the metal to ligand charge transfer (MLCT) excited state of [Fe(bpy)(CN)4]2- has a 19 picosecond lifetime and no discernable contribution from metal centered (MC) states in weak Lewis acid solvents, such as dimethyl sulfoxide and acetonitrile.1,2 In the present work, we use the same combination of spectroscopic techniques to measure the MLCT excited state relaxation dynamics of [Fe(bpy)(CN)4]2- in water, a strong Lewis acid solvent. The charge-transfer excited state is now found to decay in less than 100 femtoseconds, forming a quasi-stable metal centered excited state with a 13 picosecond lifetime. We find that this MC excited state has triplet (3MC) character, unlike other reported six-coordinate Fe(ii)-centered coordination compounds, which form MC quintet (5MC) states. The solvent dependent changes in excited state non-radiative relaxation for [Fe(bpy)(CN)4]2- allows us to infer the influence of the solvent on the electronic structure of the complex. Furthermore, the robust characterization of the dynamics and optical spectral signatures of the isolated 3MC intermediate provides a strong foundation for identifying 3MC intermediates in the electronic excited state relaxation mechanisms of similar Fe-centered systems being developed for solar applications.
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49.
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50.
  • Kunnus, Kristjan, et al. (författare)
  • Vibrational wavepacket dynamics in Fe carbene photosensitizer determined with femtosecond X-ray emission and scattering
  • 2020
  • Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 11:1
  • Tidskriftsartikel (refereegranskat)abstract
    • The non-equilibrium dynamics of electrons and nuclei govern the function of photoactive materials. Disentangling these dynamics remains a critical goal for understanding photoactive materials. Here we investigate the photoinduced dynamics of the [Fe(bmip)2]2+ photosensitizer, where bmip = 2,6-bis(3-methyl-imidazole-1-ylidine)-pyridine, with simultaneous femtosecond-resolution Fe Kα and Kβ X-ray emission spectroscopy (XES) and X-ray solution scattering (XSS). This measurement shows temporal oscillations in the XES and XSS difference signals with the same 278 fs period oscillation. These oscillations originate from an Fe-ligand stretching vibrational wavepacket on a triplet metal-centered (3MC) excited state surface. This 3MC state is populated with a 110 fs time constant by 40% of the excited molecules while the rest relax to a 3MLCT excited state. The sensitivity of the Kα XES to molecular structure results from a 0.7% average Fe-ligand bond length shift between the 1 s and 2p core-ionized states surfaces.
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