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| 2. |
- Ken-Dror, G., et al.
(författare)
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Genome-Wide Association Study Identifies First Locus Associated with Susceptibility to Cerebral Venous Thrombosis
- 2021
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Ingår i: Annals of Neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 90:5, s. 777-788
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Tidskriftsartikel (refereegranskat)abstract
- Objective Cerebral venous thrombosis (CVT) is an uncommon form of stroke affecting mostly young individuals. Although genetic factors are thought to play a role in this cerebrovascular condition, its genetic etiology is not well understood. Methods A genome-wide association study was performed to identify genetic variants influencing susceptibility to CVT. A 2-stage genome-wide study was undertaken in 882 Europeans diagnosed with CVT and 1,205 ethnicity-matched control subjects divided into discovery and independent replication datasets. Results In the overall case-control cohort, we identified highly significant associations with 37 single nucleotide polymorphisms (SNPs) within the 9q34.2 region. The strongest association was with rs8176645 (combined p = 9.15 x 10(-24); odds ratio [OR] = 2.01, 95% confidence interval [CI] = 1.76-2.31). The discovery set findings were validated across an independent European cohort. Genetic risk score for this 9q34.2 region increases CVT risk by a pooled estimate OR = 2.65 (95% CI = 2.21-3.20, p = 2.00 x 10(-16)). SNPs within this region were in strong linkage disequilibrium (LD) with coding regions of the ABO gene. The ABO blood group was determined using allele combination of SNPs rs8176746 and rs8176645. Blood groups A, B, or AB, were at 2.85 times (95% CI = 2.32-3.52, p = 2.00 x 10(-16)) increased risk of CVT compared with individuals with blood group O. Interpretation We present the first chromosomal region to robustly associate with a genetic susceptibility to CVT. This region more than doubles the likelihood of CVT, a risk greater than any previously identified thrombophilia genetic risk marker. That the identified variant is in strong LD with the coding region of the ABO gene with differences in blood group prevalence provides important new insights into the pathophysiology of CVT. ANN NEUROL 2021
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| 3. |
- Ranjan, R., et al.
(författare)
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Age of onset of cerebral venous thrombosis: the BEAST study
- 2023
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Ingår i: European Stroke Journal. - : SAGE Publications. - 2396-9873 .- 2396-9881. ; 8:1, s. 344-350
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Tidskriftsartikel (refereegranskat)abstract
- Background: Cerebral venous thrombosis (CVT) is an uncommon cause of stroke in young adults. We aimed to determine the impact of age, gender and risk factors (including sex-specific) on CVT onset. Methods: We used data from the BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis), a multicentre multinational prospective observational study on CVT. Composite factors analysis (CFA) was performed to determine the impact on the age of CVT onset in males and females. Results: A total of 1309 CVT patients (75.3% females) aged > 18 years were recruited. The overall median (IQR-interquartile range) age for males and females was 46 (35-58) years and 37 (28-47) years (p < 0.001), respectively. However, the presence of antibiotic-requiring sepsis (p = 0.03, 95% CI 27-47 years) among males and gender-specific risk factors like pregnancy (p < 0.001, 95% CI 29-34 years), puerperium (p < 0.001, 95% CI 26-34 years) and oral contraceptive use (p < 0.001, 95% CI 33-36 years) were significantly associated with earlier onset of CVT among females. CFA demonstrated a significantly earlier onset of CVT in females, similar to 12 years younger, in those with multiple (> 1) compared to '0' risk factors (p < 0.001, 95% CI 32-35 years). Conclusions: Women suffer CVT 9 years earlier in comparison to men. Female patients with multiple (> 1) risk factors suffer CVT similar to 12 years earlier compared to those with no identifiable risk factors.
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| 4. |
- Cotlarciuc, Ioana, et al.
(författare)
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Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.
- 2016
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 6:11
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Tidskriftsartikel (refereegranskat)abstract
- Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated.To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease.BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders.
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| 5. |
- Prikhna, T., et al.
(författare)
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Effects of high pressure on the physical properties of MgB2
- 2011
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Ingår i: Journal of Superconductivity and Novel Magnetism. - : Springer Science and Business Media LLC. - 1557-1939 .- 1557-1947. ; 24:5, s. 137-150
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Tidskriftsartikel (refereegranskat)abstract
- The synthesis of MgB2-based materials under high pressure gave the possibility to suppress the evaporation of magnesium and to obtain near theoretically dense nanograined structures with high superconducting, thermal conducting, and mechanical characteristics: critical current densities of 1.8-1.0×106 A/cm2 in the self-field and 103 A/cm2 in a magnetic field of 8 T at 20 K, 5-3×105 A/cm2 in self-field at 30 K, the corresponding critical fields being Hc2=15 T at 22 K and irreversible fields Hirr=13 T at 20 K, and Hirr=3.5 T at 30 K, thermal conduction of 53±2 W/(m{dot operator}K), the Vickers hardness HV=10.12±0.2 GPa under a load of 148.8 N and the fracture toughness K1 C=7.6±2.0 MPa{dot operator}m0.5 under the same load, the Young modulus E=213 GPa. Estimation of quenching current and AC losses allowed the conclusion that high-pressure-prepared materials are promising for application in transformer-type fault current limiters working at 20-30 K.
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| 6. |
- Alkhazov, GD, et al.
(författare)
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SPES4-pi: installation for exclusive study of nuclear reactions
- 2005
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Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - : Elsevier BV. - 0167-5087 .- 0168-9002. ; 551:2-3, s. 290-311
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Tidskriftsartikel (refereegranskat)abstract
- The paper describes the spectrometric system "SPES4-pi" used at the National Laboratory Saturne (CE Saclay, France) for the exclusive study of the baryon resonance excitation in inelastic alpha and d scattering on the proton, as well as coherent pion production in charge exchange reactions. The system consists of the magnetic spectrometer SPES4 and two wide-aperture position-sensitive detector arrays, equipped with wire chambers and scintillator hodoscopes, installed around a large-gap C-shape dipole magnet.
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| 7. |
- Fecchio, Alan, et al.
(författare)
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Global drivers of avian haemosporidian infections vary across zoogeographical regions
- 2021
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Ingår i: Global Ecology and Biogeography. - : Wiley. - 1466-822X .- 1466-8238. ; 30:12, s. 2393-2406
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Tidskriftsartikel (refereegranskat)abstract
- Aim: Macroecological analyses provide valuable insights into factors that influence how parasites are distributed across space and among hosts. Amid large uncertainties that arise when generalizing from local and regional findings, hierarchical approaches applied to global datasets are required to determine whether drivers of parasite infection patterns vary across scales. We assessed global patterns of haemosporidian infections across a broad diversity of avian host clades and zoogeographical realms to depict hotspots of prevalence and to identify possible underlying drivers. Location: Global. Time period: 1994–2019. Major taxa studied: Avian haemosporidian parasites (genera Plasmodium, Haemoproteus, Leucocytozoon and Parahaemoproteus). Methods: We amalgamated infection data from 53,669 individual birds representing 2,445 species world-wide. Spatio-phylogenetic hierarchical Bayesian models were built to disentangle potential landscape, climatic and biotic drivers of infection probability while accounting for spatial context and avian host phylogenetic relationships. Results: Idiosyncratic responses of the three most common haemosporidian genera to climate, habitat, host relatedness and host ecological traits indicated marked variation in host infection rates from local to global scales. Notably, host ecological drivers, such as migration distance for Plasmodium and Parahaemoproteus, exhibited predominantly varying or even opposite effects on infection rates across regions, whereas climatic effects on infection rates were more consistent across realms. Moreover, infections in some low-prevalence realms were disproportionately concentrated in a few local hotspots, suggesting that regional-scale variation in habitat and microclimate might influence transmission, in addition to global drivers. Main conclusions: Our hierarchical global analysis supports regional-scale findings showing the synergistic effects of landscape, climate and host ecological traits on parasite transmission for a cosmopolitan and diverse group of avian parasites. Our results underscore the need to account for such interactions, in addition to possible variation in drivers across regions, to produce the robust inference required to predict changes in infection risk under future scenarios.
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| 8. |
- Havela, L., et al.
(författare)
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Electrical resistivity of 5f -electron systems affected by static and dynamic spin disorder
- 2017
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Ingår i: Physical Review B. - 2469-9950. ; 95:23
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Tidskriftsartikel (refereegranskat)abstract
- Metallic 5f materials have very strong coupling of magnetic moments and electrons mediating electrical conduction. It is caused by strong spin-orbit interaction, coming with high atomic number Z, together with involvement of the 5f states in metallic bonding. We have used the recently discovered class of uranium (ultra)nanocrystalline hydrides, which are ferromagnets with high ordering temperature, to disentangle the origin of negative temperature coefficient of electrical resistivity. In general, the phenomenon of electrical resistivity decreasing with increasing temperature in metals can have several reasons. The magnetoresistivity study of these hydrides reveals that quantum effects related to spin-disorder scattering can explain the resistivity behavior of a broad class of actinide compounds.
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| 9. |
- Lytvynenko, Y., et al.
(författare)
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Control of the asymmetric band structure in Mn2Au by a ferromagnetic driver layer
- 2023
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Ingår i: Physical Review B. - 2469-9950 .- 2469-9969. ; 108:10
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Tidskriftsartikel (refereegranskat)abstract
- Hard x-ray angle-resolved photoemission spectroscopy reveals the momentum-resolved band structure in an epitaxial Mn2Au(001) film capped by a 2-nm-thick ferromagnetic permalloy layer. By magnetizing the permalloy capping layer, the exceptionally strong exchange bias aligns the Néel vector in the Mn2Au(001) film accordingly. Uncompensated interface Mn magnetic moments in Mn2Au were identified as the origin of the exchange bias using x-ray magnetic circular dichroism in combination with photoelectron emission microscopy. Using time-of-flight momentum microscopy, we measure the asymmetry of the band structure, E(k)≠E(-k), in Mn2Au resulting from the homogeneous orientation of the Néel vector. Comparison with theory shows that the Néel vector, determined by the magnetic moment of the top Mn layer, is antiparallel to the permalloy magnetization. The experimental results demonstrate that hard x-ray photoemission spectroscopy can measure the band structure of epitaxial layers beneath a metallic capping layer and corroborate the asymmetric band structure in Mn2Au that was previously inferred only indirectly.
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