99 research outputs found

    Study of the near-barrier scattering of 8He on 208Pb

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    The structure and dynamics of 8He have been studied through the collision process with a 208Pb target at energies of 22 and 16 MeV, above and below the Coulomb barrier, respectively. The energy and angular distributions of the elastically scattered 8He and the 6,4He fragments were measured. In this paper, we discuss the method used to determine the effective position of the beam spot on the reaction target and the scattering and solid angles of each pixel of the detector array.Ministerio de Economía y Competitividad FPA2010-22131-C021-01, FPA2014-59954-C3-1-PMinistry of Science and Higher Education of Poland N202 033637European Science Foundation EUI2009-0416

    Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease

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    Altres ajuts: Fundació la Marató de TV3/201821-31Background: More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date. Methods: We describe the clinical and neuropathological data of inherited early-onset prion disease caused by the rare PRNP homozygous mutation R136S. In vitro PrP propagation studies were performed using recombinant-adapted protein misfolding cyclic amplification technique. Brain material from two R136S homozygous patients was intracranially inoculated in TgMet129 and TgVal129 transgenic mice to assess the transmissibility of this rare inherited form of prion disease. Results: The index case presented symptoms of early-onset dementia beginning at the age of 49 and died at the age of 53. Neuropathological evaluation of the proband revealed abundant multicentric PrP plaques and Western blotting revealed a ~ 8 kDa protease-resistant, unglycosylated PrP fragment, consistent with a Gerstmann-Sträussler-Scheinker phenotype. Her youngest sibling suffered from progressive cognitive decline, motor impairment, and myoclonus with onset in her late 30s and died at the age of 48. Genetic analysis revealed the presence of the R136S mutation in homozygosis in the two affected subjects linked to homozygous methionine at codon 129. One sibling carrying the heterozygous R136S mutation, linked to homozygous methionine at codon 129, is still asymptomatic at the age of 74. The inoculation of human brain homogenates from our index case and an independent case from a Portuguese family with the same mutation in transgenic mice expressing human PrP and in vitro propagation of PrP studies failed to show disease transmissibility. Conclusion: In conclusion, biallelic R136S substitution is a rare variant that produces inherited early-onset human prion disease with a Gerstmann-Sträussler-Scheinker neuropathological and molecular signature. Even if the R136S variant is predicted to be "probably damaging", heterozygous carriers are protected, at least from an early onset providing evidence for a potentially recessive pattern of inheritance in human prion diseases

    Homophobia and heterosexism: Spanish Physical Education teachers’ perceptions

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    Physical education is traditionally a heteronormative environment, despite current studies highlighting the existence of positive changes in sport towards sexual diversity. In Spain, physical education teachers’ attitudes towards sexual minorities are an under-researched area. The current study identifies physical education teachers’ perceptions towards homophobia and heterosexism in their lessons, raising questions as to whether societies are hostile or more tolerant in regards to gays and lesbians in sport. This experimental and cross-sectional descriptive research involved 170 Physical Education teachers from mixed schools, using a modified version of the original questionnaire of homophobia and heterosexism perceptions by Morrow and Gill (2003). Results show heterosexist and homophobic behavior is apparent in physical education lessons, with teachers aware of these behaviours. Furthermore, it is highlighted that students use homosexually-themed language as an instrument to discriminate against gays and lesbians. This language use is not common among teachers, although when it is present, it is clearer and more frequent amongst male teachers

    Taxonomic variations in the gut microbiome of gout patients with and without tophi might have a functional impact on urate metabolism

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    [Objective] To evaluate the taxonomic composition of the gut microbiome in gout patients with and without tophi formation, and predict bacterial functions that might have an impact on urate metabolism.[Methods] Hypervariable V3–V4 regions of the bacterial 16S rRNA gene from fecal samples of gout patients with and without tophi (n = 33 and n = 25, respectively) were sequenced and compared to fecal samples from 53 healthy controls. We explored predictive functional profiles using bioinformatics in order to identify differences in taxonomy and metabolic pathways. [Results] We identified a microbiome characterized by the lowest richness and a higher abundance of Phascolarctobacterium, Bacteroides, Akkermansia, and Ruminococcus_gnavus_group genera in patients with gout without tophi when compared to controls. The Proteobacteria phylum and the Escherichia-Shigella genus were more abundant in patients with tophaceous gout than in controls. Fold change analysis detected nine genera enriched in healthy controls compared to gout groups (Bifidobacterium, Butyricicoccus, Oscillobacter, Ruminococcaceae_UCG_010, Lachnospiraceae_ND2007_group, Haemophilus, Ruminococcus_1, Clostridium_sensu_stricto_1, and Ruminococcaceae_UGC_013). We found that the core microbiota of both gout groups shared Bacteroides caccae, Bacteroides stercoris ATCC 43183, and Bacteroides coprocola DSM 17136. These bacteria might perform functions linked to one-carbon metabolism, nucleotide binding, amino acid biosynthesis, and purine biosynthesis. Finally, we observed differences in key bacterial enzymes involved in urate synthesis, degradation, and elimination. [Conclusion] Our findings revealed that taxonomic variations in the gut microbiome of gout patients with and without tophi might have a functional impact on urate metabolism.This study was supported by the Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra” and the Grant INF-2016-01-269675 from the Consejo Nacional de Ciencia y Tecnología (CONACYT)

    Near barrier scattering of 8He on 208Pb

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    The exotic nucleus 8He is investigated by means of the measurement of the angular distributions of the elastic channel and the 6He and 4He fragment yields produced in the collision with a 208Pb target at two energies around the Coulomb barrier, 16 and 22 MeV. The experiment was performed at the GANIL-SPIRAL facility, with the aim of extracting information about the structure of 8He and the relevant reaction mechanisms. In this contribution, details of the experimental setup and preliminary data on elastic cross sections are reported

    Near barrier scattering of 8He on 208Pb

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    The exotic nucleus 8He is investigated by means of the measurement of the angular distributions of the elastic channel and the 6He and 4He fragment yields produced in the collision with a 208Pb target at two energies around the Coulomb barrier, 16 and 22 MeV. The experiment was performed at the GANIL-SPIRAL facility, with the aim of extracting information about the structure of 8He and the relevant reaction mechanisms. In this contribution, details of the experimental setup and preliminary data on elastic cross sections are reporte

    Proton-proton correlations observed in two-proton decay of (19)Mg and (16)Ne

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    Proton-proton correlations were observed for the two-proton decays of the ground states of 19Mg and 16Ne. The trajectories of the respective decay products, 17Ne+p+p and 14O+p+p, were mea- sured by using a tracking technique with microstrip detectors. These data were used to reconstruct the angular correlations of fragments projected on planes transverse to the precursor momenta. The measured three-particle correlations reflect a genuine three-body decay mechanism and allowed us to obtain spectroscopic information on the precursors with valence protons in the sd shel

    Structure effects in the reactions 9,10,11Be+64Zn at the Coulomb barrier

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    Elastic scattering and direct reactions have been studied for the collisions induced by the three Beryllium isotopes 9,10,11Be, on a medium mass 64Zn target at energies around the Coulomb barrier. The elastic scattering angular distributions, measured for the three systems at the same center of mass energy, were analyzed within the Optical Model and reaction cross-sections were deduced from optical model calculations. For the 11Be induced reaction the transfer/break-up angular distribution was also extracted
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