188 research outputs found

    The human endurance athlete: heterogeneity and adaptability of selected exercise and skeletal muscle characteristics

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    In human subjects, large variations between individuals (up to 3-fold) exist in the capacity for endurance exercise performance. In a heterogeneous population, endurance performance is strongly related to whole body maximal oxygen uptake (VO2 max). This is in part genotype dependent (~25%) but is adaptable with training. However, this relationship does not hold within a homogeneous group of well-trained runners. Other phySiOlogical characteristics must contribute to endurance performance and these may include specific advantageous skeletal muscle phenotypes. Muscle fibre type distribution is also heterogeneous, although less adaptable. In contrast, muscle oxidative enzyme capacity is highly adaptable with training. The genetic influences on these muscle characteristics have been indirectly investigated by comparing African endurance athletes, who dominate world-class events, to Caucasian endurance athletes. We have established that African runners have greater resistance to fatigue than Caucasians (p < 0.01) and 50% greater oxidative enzyme activity in vastus lateralis samples (p < 0.05), despite somewhat lower Type I fibre proportion. These differences were not inherently present in a group of sedentary Africans, suggesting that the genotypic influence on athletic performance may be a superior adaptation to training, rather than a baseline genetic effect. Combined physiological and genetic studies are likely to elucidate a polygenetic basis for superior endurance performance

    Interleukin-6 and Associated Cytokine Responses to An Acute Bout of High-intensity Interval Exercise: the Effect of Exercise Intensity and Volume

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    Acute increases in interleukin (IL)-6 following prolonged exercise are associated with the induction of a transient anti-inflammatory state (e.g., increases in IL-10) that is partly responsible for the health benefits of regular exercise. The purposes of this study were to investigate the IL-6–related inflammatory response to high-intensity interval exercise (HIIE) and to determine the impact of exercise intensity and volume on this response. Ten participants (5 males and 5 females) completed 3 exercise bouts of contrasting intensity and volume (LOW, MOD, and HIGH). The HIGH protocol was based upon standard HIIE protocols, while the MOD and LOW protocols were designed to enable a comparison of exercise intensity and volume with a fixed duration. Inflammatory cytokine concentrations were measured in plasma (IL-6, IL-10) and also determined the level of gene expression (IL-6, IL-10, and IL-4R) in peripheral blood. The plasma IL-6 response to exercise (reported as fold changes) was significantly greater in HIGH (2.70 ± 1.51) than LOW (1.40 ± 0.32) (P = 0.04) and was also positively correlated to the mean exercise oxygen uptake (r = 0.54, P < 0.01). However, there was no change in anti-inflammatory IL-10 or IL-4R responses in plasma or at the level of gene expression. HIIE caused a significant increase in IL-6 and was greater than that seen in low-intensity exercise of the same duration. The increases in IL-6 were relatively small in magnitude, and appear to have been insufficient to induce the acute systemic anti-inflammatory effects, which are evident following longer duration exercise

    Development of a genotyping microarray for Usher syndrome

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    BACKGROUND: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction, displays a high degree of clinical and genetic heterogeneity. Three clinical subtypes can be distinguished, based on the age of onset and severity of the hearing impairment, and the presence or absence of vestibular abnormalities. Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons. METHODS: To improve DNA diagnostics for patients with Usher syndrome, we developed a genotyping microarray based on the arrayed primer extension (APEX) method. Allele-specific oligonucleotides corresponding to all 298 Usher syndrome-associated sequence variants known to date, 76 of which are novel, were arrayed. RESULTS: Approximately half of these variants were validated using original patient DNAs, which yielded an accuracy of >98%. The efficiency of the Usher genotyping microarray was tested using DNAs from 370 unrelated European and American patients with Usher syndrome. Sequence variants were identified in 64/140 (46%) patients with Usher syndrome type I, 45/189 (24%) patients with Usher syndrome type II, 6/21 (29%) patients with Usher syndrome type III and 6/20 (30%) patients with atypical Usher syndrome. The chip also identified two novel sequence variants, c.400C>T (p.R134X) in PCDH15 and c.1606T>C (p.C536S) in USH2A. CONCLUSION: The Usher genotyping microarray is a versatile and affordable screening tool for Usher syndrome. Its efficiency will improve with the addition of novel sequence variants with minimal extra costs, making it a very useful first-pass screening tool

    Measurement of the cross section for isolated-photon plus jet production in pp collisions at √s=13 TeV using the ATLAS detector

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    The dynamics of isolated-photon production in association with a jet in proton–proton collisions at a centre-of-mass energy of 13 TeV are studied with the ATLAS detector at the LHC using a dataset with an integrated luminosity of 3.2 fb−1. Photons are required to have transverse energies above 125 GeV. Jets are identified using the anti- algorithm with radius parameter and required to have transverse momenta above 100 GeV. Measurements of isolated-photon plus jet cross sections are presented as functions of the leading-photon transverse energy, the leading-jet transverse momentum, the azimuthal angular separation between the photon and the jet, the photon–jet invariant mass and the scattering angle in the photon–jet centre-of-mass system. Tree-level plus parton-shower predictions from Sherpa and Pythia as well as next-to-leading-order QCD predictions from Jetphox and Sherpa are compared to the measurements

    A search for resonances decaying into a Higgs boson and a new particle X in the XH → qqbb final state with the ATLAS detector

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    A search for heavy resonances decaying into a Higgs boson (H) and a new particle (X) is reported, utilizing 36.1 fb−1 of proton–proton collision data at collected during 2015 and 2016 with the ATLAS detector at the CERN Large Hadron Collider. The particle X is assumed to decay to a pair of light quarks, and the fully hadronic final state is analysed. The search considers the regime of high XH resonance masses, where the X and H bosons are both highly Lorentz-boosted and are each reconstructed using a single jet with large radius parameter. A two-dimensional phase space of XH mass versus X mass is scanned for evidence of a signal, over a range of XH resonance mass values between 1 TeV and 4 TeV, and for X particles with masses from 50 GeV to 1000 GeV. All search results are consistent with the expectations for the background due to Standard Model processes, and 95% CL upper limits are set, as a function of XH and X masses, on the production cross-section of the resonance

    Qualidade e potencial de conservação pós-colheita dos frutos em cultivares brasileiras de goiabeira-serrana

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    Foi avaliada a manutenção da qualidade pós-colheita dos frutos em cultivares brasileiras de goiabeira-serrana. Frutos das cultivares Alcântara, Helena, Mattos e Nonante foram colhidos na maturação comercial, no município de São Joaquim-SC, e armazenados a 4±1 ºC (90±5% UR), durante 21 dias, seguido de 8 e 48 h a 23±1 ºC (75±5% UR). Foram avaliadas a composição mineral (N, K, Mg e Ca) na colheita e a qualidade dos frutos na colheita e após o armazenamento. Frutos da cultivar Nonante apresentaram na colheita maiores valores de acidez titulável (AT) pH e de atributos de textura, e menores valores de pH e da relação sólidos solúveis/acidez titulável (SS/AT), sendo que, após o armazenamento refrigerado, este comportamento foi reduzido, com menores diferenças em relação às demais cultivares. Frutos de 'Nonante' apresentaram também maiores teores de K na casca e polpa, e menores teores de N na polpa e, após o armazenamento refrigerado, cor verde menos intensa na casca e menor escurecimento de polpa. Em relação aos dados de colheita, após o armazenamento refrigerado, houve maior redução na AT (41%) do que no teor de SS (8,6%), o que ocasionou acentuado aumento na relação SS/AT (52,5%), considerando valores médios das quatro cultivares. Isto evidencia que, em goiaba-serrana, os ácidos orgânicos representam o principal substrato respiratório durante o armazenamento, o que compromete a qualidade sensorial pelo aumento na relação SS/AT. Frutos de 'Alcântara' foram também avaliados quanto aos efeitos do dano mecânico na colheita e do retardo no armazenamento refrigerado, na qualidade após o armazenamento. O dano mecânico na colheita (dano por queda, a uma altura de 50 cm, sobre uma superfície rígida) ocasionou mínimo comprometimento da qualidade após o armazenamento refrigerado. Frutos desta cultivar apresentaram redução na AT (31%), textura da periderme (33%) e força para a compressão (13%), e aumento no pH (20%) e na relação SS/AT (48%), com o retardo no armazenamento refrigerado (de 0h para 48h a 18±2 ºC/70±5% UR)

    Search for invisible Higgs boson decays in vector boson fusion at √s = 13 TeV with the ATLAS detector

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    We report a search for Higgs bosons that are produced via vector boson fusion and subsequently decay into invisible particles. The experimental signature is an energetic jet pair with invariant mass of O(1) TeV and O(100) GeV missing transverse momentum. The analysis uses 36.1 fb−1 of pp collision data at √s=13 TeV recorded by the ATLAS detector at the LHC. In the signal region the 2252 observed events are consistent with the background estimation. Assuming a 125 GeV scalar particle with Standard Model cross sections, the upper limit on the branching fraction of the Higgs boson decay into invisible particles is 0.37 at 95% confidence level where 0.28 was expected. This limit is interpreted in Higgs portal models to set bounds on the wimp–nucleon scattering cross section. We also consider invisible decays of additional scalar bosons with masses up to 3 TeV for which the upper limits on the cross section times branching fraction are in the range of 0.3–1.7 pb

    Comparison between simulated and observed LHC beam backgrounds in the ATLAS experiment at Ebeam =4 TeV

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    Results of dedicated Monte Carlo simulations of beam-induced background (BIB) in the ATLAS experiment at the Large Hadron Collider (LHC) are presented and compared with data recorded in 2012. During normal physics operation this background arises mainly from scattering of the 4 TeV protons on residual gas in the beam pipe. Methods of reconstructing the BIB signals in the ATLAS detector, developed and implemented in the simulation chain based on the \textscFluka Monte Carlo simulation package, are described. The interaction rates are determined from the residual gas pressure distribution in the LHC ring in order to set an absolute scale on the predicted rates of BIB so that they can be compared quantitatively with data. Through these comparisons the origins of the BIB leading to different observables in the ATLAS detectors are analysed. The level of agreement between simulation results and BIB measurements by ATLAS in 2012 demonstrates that a good understanding of the origin of BIB has been reached
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