A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24

Hereditary sensory neuropathy type I (HSN I) is a group of dominantly inherited degenerative disorders of peripheral nerve in which sensory features are more prominent than motor involvement. We have described a new form of HSN I that is associated with cough and gastroesophageal reflux. To map the chromosomal location of the gene causing the disorder, a 10-cM genome screen was undertaken in a large Australian family. Two-point analysis showed linkage to chromosome 3p22-p24 (Zmax=3.51 at recombination fraction (θ) 0.0 for marker D3S2338). A second family with a similar phenotype shares a different disease haplotype but segregates at the same locus. Extended haplotype analysis has refined the region to a 3.42-cM interval, flanked by markers D3S2336 and D3S1266

The role of cytokine gene polymorphisms in the pathogenesis of abdominal aortic aneurysms: A case-control study

AbstractBackground: Cytokines are the primary mediators of inflammation and also influence matrix metalloproteinase expression, both of which are important in development of abdominal aortic aneurysm (AAA). A significant, but as yet unknown, familial factor contributes to the pathogenesis of AAA. Many cytokine genes contain polymorphic sites, some of which affect cytokine production in vitro. Cytokine gene polymorphisms may therefore influence the pathogenesis of AAA. The purpose of this study was to determine whether there is any association between cytokine gene polymorphisms and AAA. Methods and Results: This case-control study comprised 100 patients with AAA and 100 age-matched and sex-matched control subjects. For each case and control subject in the study, genotypes at the following cytokine gene polymorphic loci were determined: interleukin (IL)-1β +3953, IL-6 −174, IL-10 −1082, IL-10 −592, and tumor necrosis factors-α −308. Allele and genotype frequencies were compared between AAA and control groups, and odds ratios (OR) were calculated for the presence of AAA with each allele at each locus examined as risk factors. The IL-10 −1082 A allele was significantly more common in the AAA group than the control group (P =.03). The OR for the IL-10 −1082 A allele as a risk factor for AAA was 1.8 (95% confidence interval, 0.9-3.6). Discussion: These associations suggest a significant role for IL-10 in the pathogenesis of AAA. This association of AAA with the IL-10 −1082 A allele is also biologically plausible; the IL-10 −1082 A allele is associated with low IL-10 secretion, and it may be that AAA develops in patients who are unable to mount the same anti-inflammatory response as those who do not have AAA. (J Vasc Surg 2003;37:999-1005.

Leveraging the sport participation legacy of the London 2012 Olympics: Senior managers’ perceptions

The purpose of this study was to understand how a sports mega event (SME) was leveraged to try and increase participation, through the investigation of national governing bodies (NGBs) opinions and atti- tudes. Critical realism (CR) was used as a tool to aid understanding of leveraging and legacy conceptualisation, through an empirical investiga- tion. An extensive, mixed method online survey was conducted post London 2012 with senior staff members of NGBs, the main delivery agent chosen to support the participation initiatives associated with the London 2012 Olympics. This research provides valuable findings surrounding the use of CR as a tool to investigate legacy creation, whilst at the same time offering insights to enhance the policy implementation process within the sports development sector. The importance of com- munication, competitive nature of sports system, media, club engage- ment, organisational capacity and monitoring and evaluation were highlighted, which provided useful insights into the multidimensional constructs that can aid future leveraging strategies prior to hosting SMEs

Bartonella Clarridgeiae Bacteremia Detected In An Asymptomatic Blood Donor

Human exposure to Bartonella clarridgeiae has been reported only on the basis of antibody detection. 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(2008) Transfus Med, 18, pp. 287-291. , http://dx.doi.org/10.1111/j.1365-3148.2008.00871.xLin, J.W., Chen, C.M., Chang, C.C., Unknown fever and back pain caused by Bartonella henselae in a veterinarian after a needle puncture: A case report and literature review (2011) Vector Borne Zoonotic Dis, 11, pp. 589-591. , http://dx.doi.org/10.1089/vbz.2009.0217Oliveira, A.M., Maggi, R.G., Woods, C.W., Breitschwerdt, E.B., Suspected needle stick transmission of Bartonella vinsonii subspecies berkhoffii to a veterinarian (2010) J Vet Intern Med, 24, pp. 1229-1232. , http://dx.doi.org/10.1111/j.1939-1676.2010.0563.xOhl, M.E., Spach, D.H., Bartonella quintana and urban trench fever (2000) Clin Infect Dis, 31, pp. 131-135. , http://dx.doi.org/10.1086/313890Daly, J.S., Worthington, M.G., Brenner, D.J., Moss, C.W., Hollis, D.G., Weyant, R.S., Steigerwalt, A.G., O'Connor, S.P., Rochalimaea elizabethae sp. Nov. Isolated from a patient with endocarditis (1993) J Clin Microbiol, 31, pp. 872-881Oksi, J., Rantala, S., Kilpinen, S., Silvennoinen, R., Vornanen, M., Veikkolainen, V., Eerola, E., Pulliainen, A.T., Cat scratch disease caused by Bartonella grahamii in an immunocompromised patient (2013) J Clin Microbiol, 51, pp. 2781-2784. , http://dx.doi.org/10.1128/JCM.00910-13Breitschwerdt, E.B., Mascarelli, P.E., Schweickert, L.A., Maggi, R.G., Hegarty, B.C., Bradley, J.M., Woods, C.W., Hallucinations, sensory neuropathy, and peripheral visual deficits in a young woman infected with Bartonella koehlerae (2011) J Clin Microbiol, 49, pp. 3415-3417. , http://dx.doi.org/10.1128/JCM.00833-11Raoult, D., Roblot, F., Rolain, J.M., Besnier, J.M., Loulergue, J., Bastides, F., Choutet, P., First isolation of Bartonella alsatica from a valve of a patient with endocarditis (2006) J Clin Microbiol, 44, pp. 278-279. , http://dx.doi.org/10.1128/JCM.44.1.278-279.2006Welch, D.F., Carroll, K.C., Hofmeister, E.K., Persing, D.H., Robison, D.A., Steigerwalt, A.G., Brenner, D.J., Isolation of a new subspecies, Bartonella vinsonii subsp. Arupensis, from a cattle rancher: Identity with isolates found in conjunction with Borrelia burgdorferi and Babesia microti among naturally infected mice (1999) J Clin Microbiol, 37, pp. 2598-2601Probert, W., Louie, J.K., Tucker, J.R., Longoria, R., Hogue, R., Moler, S., Graves, M., Fritz, C.L., Meningitis due to a "Bartonella washoensis"-like human pathogen (2009) J Clin Microbiol, 47, pp. 2332-2335. , http://dx.doi.org/10.1128/JCM.00511-09Kosoy, M., Morway, C., Sheff, K.W., Bai, Y., Colborn, J., Chalcraft, L., Dowell, S.F., Petersen, L.R., Bartonella tamiae sp. 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Measurement of the B0-anti-B0-Oscillation Frequency with Inclusive Dilepton Events

The $B^0$-$\bar B^0$ oscillation frequency has been measured with a sample of 23 million \B\bar B pairs collected with the BABAR detector at the PEP-II asymmetric B Factory at SLAC. In this sample, we select events in which both B mesons decay semileptonically and use the charge of the leptons to identify the flavor of each B meson. A simultaneous fit to the decay time difference distributions for opposite- and same-sign dilepton events gives $\Delta m_d = 0.493 \pm 0.012{(stat)}\pm 0.009{(syst)}$ ps$^{-1}$.Comment: 7 pages, 1 figure, submitted to Physical Review Letter

Analysis of the modes of energy consumption of the complex of an incoherent scattering of the institute of ionosphere of national academy of sciences and the ministry of education and science of Ukraine

У даній статті представлені результати аналізу режимів енергоспоживання комплексу некогерентного розсіяння Інституту іоносфери НАН і МОН України з метою вирішення проблеми підвищення енергоефективності науково-дослідного комплексу та створення енергоефективної системи електропостачання, яка забезпечить стійку роботу наукового обладнання для виконання дослідницьких програм НАН України. Описана система електроживлення комплексу та режими енергоспоживання комплексу. Описано пристрої радарної системи, а також найбільш потужні споживачі електроенергії, які споживають електроенергію на експериментальні і господарські потреби. Проаналізовано енергоспоживання комплексу некогерентного розсіяння за 2013 р. Отримано і представлено графіки середньої споживаної потужності (середньодобовий показник) і середньої споживаної потужності в режимі вимірювань. Описана доцільність проведення робіт з оптимізації енергопостачання науково-дослідного комплексу Інституту іоносфери. Запропоновано можливі заходи для зниження економічної вартості проведення експериментів з дослідження іоносфери науково-дослідного комплексу некогерентного розсіяння. Проведено аналіз робіт сучасних авторів з метою показати, що підвищення ефективності функціонування систем електропостачання є актуальною проблемою сучасних досліджень.This article presents the results of the analysis of the energy consumption modes of the incoherent scattering complex of the Institute of Ionosphere of the National Academy of Sciences and the Ministry of Education and Science of Ukraine to solve the problem of increasing the energy efficiency of a research complex and creating an energy efficient power supply system that will ensure the sustainability of scientific equipment for research programs of the National Academy of Sciences of Ukraine. The system of power supply of the complex and modes of power consumption of the complex are described. The devices of the radar system are described, as well as the most powerful consumers of electricity, which consume electricity for experimental and economic needs. The energy consumption of the incoherent scattering complex in 2013 is analyzed. Graphs of the average power consumption (daily average) and average power consumption in measurement modes were obtained and presented. The feasibility of work to optimize the energy supply of the research complex of the institute of the ionosphere is described. Possible measures are proposed to reduce the economic cost of conducting experiments on the study of the ionosphere of an incoherent scattering research complex. The analysis of the works of modern authors i s carried out in order to show that increasing the efficiency of the power supply systems is an actual problem of modern research

Measurement of the polarisation of W bosons produced with large transverse momentum in pp collisions at sqrt(s) = 7 TeV with the ATLAS experiment

This paper describes an analysis of the angular distribution of W->enu and W->munu decays, using data from pp collisions at sqrt(s) = 7 TeV recorded with the ATLAS detector at the LHC in 2010, corresponding to an integrated luminosity of about 35 pb^-1. Using the decay lepton transverse momentum and the missing transverse energy, the W decay angular distribution projected onto the transverse plane is obtained and analysed in terms of helicity fractions f0, fL and fR over two ranges of W transverse momentum (ptw): 35 < ptw < 50 GeV and ptw > 50 GeV. Good agreement is found with theoretical predictions. For ptw > 50 GeV, the values of f0 and fL-fR, averaged over charge and lepton flavour, are measured to be : f0 = 0.127 +/- 0.030 +/- 0.108 and fL-fR = 0.252 +/- 0.017 +/- 0.030, where the first uncertainties are statistical, and the second include all systematic effects.Comment: 19 pages plus author list (34 pages total), 9 figures, 11 tables, revised author list, matches European Journal of Physics C versio

Observation of a new chi_b state in radiative transitions to Upsilon(1S) and Upsilon(2S) at ATLAS

The chi_b(nP) quarkonium states are produced in proton-proton collisions at the Large Hadron Collider (LHC) at sqrt(s) = 7 TeV and recorded by the ATLAS detector. Using a data sample corresponding to an integrated luminosity of 4.4 fb^-1, these states are reconstructed through their radiative decays to Upsilon(1S,2S) with Upsilon->mu+mu-. In addition to the mass peaks corresponding to the decay modes chi_b(1P,2P)->Upsilon(1S)gamma, a new structure centered at a mass of 10.530+/-0.005 (stat.)+/-0.009 (syst.) GeV is also observed, in both the Upsilon(1S)gamma and Upsilon(2S)gamma decay modes. This is interpreted as the chi_b(3P) system.Comment: 5 pages plus author list (18 pages total), 2 figures, 1 table, corrected author list, matches final version in Physical Review Letter

Search for displaced vertices arising from decays of new heavy particles in 7 TeV pp collisions at ATLAS

We present the results of a search for new, heavy particles that decay at a significant distance from their production point into a final state containing charged hadrons in association with a high-momentum muon. The search is conducted in a pp-collision data sample with a center-of-mass energy of 7 TeV and an integrated luminosity of 33 pb^-1 collected in 2010 by the ATLAS detector operating at the Large Hadron Collider. Production of such particles is expected in various scenarios of physics beyond the standard model. We observe no signal and place limits on the production cross-section of supersymmetric particles in an R-parity-violating scenario as a function of the neutralino lifetime. Limits are presented for different squark and neutralino masses, enabling extension of the limits to a variety of other models.Comment: 8 pages plus author list (20 pages total), 8 figures, 1 table, final version to appear in Physics Letters

Measurement of the inclusive isolated prompt photon cross-section in pp collisions at sqrt(s)= 7 TeV using 35 pb-1 of ATLAS data

A measurement of the differential cross-section for the inclusive production of isolated prompt photons in pp collisions at a center-of-mass energy sqrt(s) = 7 TeV is presented. The measurement covers the pseudorapidity ranges |eta|<1.37 and 1.52<=|eta|<2.37 in the transverse energy range 45<=E_T<400GeV. The results are based on an integrated luminosity of 35 pb-1, collected with the ATLAS detector at the LHC. The yields of the signal photons are measured using a data-driven technique, based on the observed distribution of the hadronic energy in a narrow cone around the photon candidate and the photon selection criteria. The results are compared with next-to-leading order perturbative QCD calculations and found to be in good agreement over four orders of magnitude in cross-section.Comment: 7 pages plus author list (18 pages total), 2 figures, 4 tables, final version published in Physics Letters