383 research outputs found

    HFE gene polymorphism defined by sequence based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences

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    The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. The HFE gene including both coding and boundary intronic regions were sequenced in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. Six sites of variation were detected: i) H63D C > G in exon 2, ii) IVS2 (+4) T > C in intron 2, iii) a C > G transversion in intron 3, iv) C282Y G > A in exon 4, v) IVS4 (-44) T > C in intron 4, and vi) a new Guanine deletion (G > del) in intron 5, which were used for haplotype inference. Nine HFE alleles were detected and six of these were officially named on the basis of the HLA Nomenclature, defined by the WHO Nomenclature Committee for Factors of the HLA System, and published via the IPD-IMGT/HLA website. Four alleles, HFE*001, 002, 003 and 004 exhibited variation within their exon sequences

    Clinical outcome of endonasal KTP laser assisted dacryocystorhinostomy

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    BACKGROUND: To evaluate the clinical outcome of primary endonasal laser assisted dacryocystorhinostomy (ENL-DCR) using the potassium-titanyl-phosphate laser. METHODS: We retrospectively reviewed all primary ENL-DCRs performed within a period of twelve months by the same combined Ophthalmology and Otorhinolaringology team in Freeman Hospital, Newcastle upon Tyne, UK. The main outcome measure for success was resolution or significant improvement of epiphora. Details of surgery, intraoperative and postoperative complications, as well as pathology associated with failure were also studied. Patients were followed up for at least 12 months. RESULTS: A total of 41 consecutive ENL-DCRs on 29 patients (22 females, 7 males, mean age 75 years) were analysed. All patients had bicanalicular silicone intubation for at least 4 months. The success rate at 12 months postoperatively was 78.1%. Pathology associated with failure included: intranasal pathology (12.2%), mucocele (7.3%), and systemic sarcoidosis (2.4%). No significant intra-operative complications were recorded. CONCLUSION: The ENL-DCR with potassium-titanyl-phosphate laser can be considered as a safe and efficient primary procedure for the treatment of nasolacrimal duct obstruction

    Multiple-look effects on temporal discrimination within sound sequences

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    The multiple-look notion holds that the difference limen (DL) decreases with multiple observations. We investigated this notion for temporal discrimination in isochronous sound sequences. In Experiment 1, we established a multiple-look effect when sequences comprised nine standard time intervals (S) followed by an increasing number of comparison time intervals (C), but no multiple-look effect when one trailing C interval was preceded by an increasing number of S intervals. In Experiment 2, we extended the design. There were four sequential conditions: (a) 9 leading S intervals followed by 1, 2, 
, or 9 C-intervals; (b) 9 leading C intervals followed by 1, 2, 
, or 9 S intervals; (c) 9 trailing C-intervals preceded by 1, 2, 
, or 9 S-intervals; and (d) 9 trailing S-intervals preceded by 1, 2, 
, or 9 C-intervals. Both the interval accretions before and after the tempo change caused multiple-look effects, irrespective of the time order of S and C. Complete deconfounding of the number of intervals before and after the tempo change was accomplished in Experiment 3. The multiple-look effect of interval accretion before the tempo change was twice as big as that after the tempo change. The diminishing returns relation between the DL and interval accretion could be described well by a reciprocal function

    Importin-13 genetic variation is associated with improved airway responsiveness in childhood asthma

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    <p>Abstract</p> <p>Background</p> <p>Glucocorticoid function is dependent on efficient translocation of the glucocorticoid receptor (GR) from the cytoplasm to the nucleus of cells. Importin-13 (IPO13) is a nuclear transport receptor that mediates nuclear entry of GR. In airway epithelial cells, inhibition of IPO13 expression prevents nuclear entry of GR and abrogates anti-inflammatory effects of glucocorticoids. Impaired nuclear entry of GR has been documented in steroid-non-responsive asthmatics. We hypothesize that common IPO13 genetic variation influences the anti-inflammatory effects of inhaled corticosteroids for the treatment of asthma, as measured by change in methacholine airway hyperresponsiveness (AHR-PC<sub>20</sub>).</p> <p>Methods</p> <p>10 polymorphisms were evaluated in 654 children with mild-to-moderate asthma participating in the Childhood Asthma Management Program (CAMP), a clinical trial of inhaled anti-inflammatory medications (budesonide and nedocromil). Population-based association tests with repeated measures of PC<sub>20 </sub>were performed using mixed models and confirmed using family-based tests of association.</p> <p>Results</p> <p>Among participants randomized to placebo or nedocromil, IPO13 polymorphisms were associated with improved PC<sub>20 </sub>(i.e. less AHR), with subjects harboring minor alleles demonstrating an average 1.51–2.17 fold increase in mean PC<sub>20 </sub>at 8-months post-randomization that persisted over four years of observation (p = 0.01–0.005). This improvement was similar to that among children treated with long-term inhaled corticosteroids. There was no additional improvement in PC<sub>20 </sub>by IPO13 variants among children treated with inhaled corticosteroids.</p> <p>Conclusion</p> <p>IPO13 variation is associated with improved AHR in asthmatic children. The degree of this improvement is similar to that observed with long-term inhaled corticosteroid treatment, suggesting that IPO13 variation may improve nuclear bioavailability of endogenous glucocorticoids.</p

    Search for Charged Higgs Bosons in e+e- Collisions at \sqrt{s} = 189 GeV

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    A search for pair-produced charged Higgs bosons is performed with the L3 detector at LEP using data collected at a centre-of-mass energy of 188.6 GeV, corresponding to an integrated luminosity of 176.4 pb^-1. Higgs decays into a charm and a strange quark or into a tau lepton and its associated neutrino are considered. The observed events are consistent with the expectations from Standard Model background processes. A lower limit of 65.5 GeV on the charged Higgs mass is derived at 95 % confidence level, independent of the decay branching ratio Br(H^{+/-} -> tau nu)

    Study of the reaction e^{+}e^{-} -->J/psi\pi^{+}\pi^{-} via initial-state radiation at BaBar

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    We study the process e+e−→J/ψπ+π−e^+e^-\to J/\psi\pi^{+}\pi^{-} with initial-state-radiation events produced at the PEP-II asymmetric-energy collider. The data were recorded with the BaBar detector at center-of-mass energies 10.58 and 10.54 GeV, and correspond to an integrated luminosity of 454 fb−1\mathrm{fb^{-1}}. We investigate the J/ψπ+π−J/\psi \pi^{+}\pi^{-} mass distribution in the region from 3.5 to 5.5 GeV/c2\mathrm{GeV/c^{2}}. Below 3.7 GeV/c2\mathrm{GeV/c^{2}} the ψ(2S)\psi(2S) signal dominates, and above 4 GeV/c2\mathrm{GeV/c^{2}} there is a significant peak due to the Y(4260). A fit to the data in the range 3.74 -- 5.50 GeV/c2\mathrm{GeV/c^{2}} yields a mass value 4244±54244 \pm 5 (stat) ±4 \pm 4 (syst)MeV/c2\mathrm{MeV/c^{2}} and a width value 114−15+16114 ^{+16}_{-15} (stat)±7 \pm 7(syst)MeV\mathrm{MeV} for this state. We do not confirm the report from the Belle collaboration of a broad structure at 4.01 GeV/c2\mathrm{GeV/c^{2}}. In addition, we investigate the π+π−\pi^{+}\pi^{-} system which results from Y(4260) decay

    Jet energy measurement with the ATLAS detector in proton-proton collisions at root s=7 TeV

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    The jet energy scale and its systematic uncertainty are determined for jets measured with the ATLAS detector at the LHC in proton-proton collision data at a centre-of-mass energy of √s = 7TeV corresponding to an integrated luminosity of 38 pb-1. Jets are reconstructed with the anti-kt algorithm with distance parameters R=0. 4 or R=0. 6. Jet energy and angle corrections are determined from Monte Carlo simulations to calibrate jets with transverse momenta pT≄20 GeV and pseudorapidities {pipe}η{pipe}<4. 5. The jet energy systematic uncertainty is estimated using the single isolated hadron response measured in situ and in test-beams, exploiting the transverse momentum balance between central and forward jets in events with dijet topologies and studying systematic variations in Monte Carlo simulations. The jet energy uncertainty is less than 2. 5 % in the central calorimeter region ({pipe}η{pipe}<0. 8) for jets with 60≀pT<800 GeV, and is maximally 14 % for pT<30 GeV in the most forward region 3. 2≀{pipe}η{pipe}<4. 5. The jet energy is validated for jet transverse momenta up to 1 TeV to the level of a few percent using several in situ techniques by comparing a well-known reference such as the recoiling photon pT, the sum of the transverse momenta of tracks associated to the jet, or a system of low-pT jets recoiling against a high-pT jet. More sophisticated jet calibration schemes are presented based on calorimeter cell energy density weighting or hadronic properties of jets, aiming for an improved jet energy resolution and a reduced flavour dependence of the jet response. The systematic uncertainty of the jet energy determined from a combination of in situ techniques is consistent with the one derived from single hadron response measurements over a wide kinematic range. The nominal corrections and uncertainties are derived for isolated jets in an inclusive sample of high-pT jets. Special cases such as event topologies with close-by jets, or selections of samples with an enhanced content of jets originating from light quarks, heavy quarks or gluons are also discussed and the corresponding uncertainties are determined. © 2013 CERN for the benefit of the ATLAS collaboration

    Measurement of the inclusive and dijet cross-sections of b-jets in pp collisions at sqrt(s) = 7 TeV with the ATLAS detector

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    The inclusive and dijet production cross-sections have been measured for jets containing b-hadrons (b-jets) in proton-proton collisions at a centre-of-mass energy of sqrt(s) = 7 TeV, using the ATLAS detector at the LHC. The measurements use data corresponding to an integrated luminosity of 34 pb^-1. The b-jets are identified using either a lifetime-based method, where secondary decay vertices of b-hadrons in jets are reconstructed using information from the tracking detectors, or a muon-based method where the presence of a muon is used to identify semileptonic decays of b-hadrons inside jets. The inclusive b-jet cross-section is measured as a function of transverse momentum in the range 20 < pT < 400 GeV and rapidity in the range |y| < 2.1. The bbbar-dijet cross-section is measured as a function of the dijet invariant mass in the range 110 < m_jj < 760 GeV, the azimuthal angle difference between the two jets and the angular variable chi in two dijet mass regions. The results are compared with next-to-leading-order QCD predictions. Good agreement is observed between the measured cross-sections and the predictions obtained using POWHEG + Pythia. MC@NLO + Herwig shows good agreement with the measured bbbar-dijet cross-section. However, it does not reproduce the measured inclusive cross-section well, particularly for central b-jets with large transverse momenta.Comment: 10 pages plus author list (21 pages total), 8 figures, 1 table, final version published in European Physical Journal
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