253 research outputs found

    Association Between Alpha 1 Antitrypsin Deficiency And Cystic Fibrosis Severity

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    Objective: To ascertain the distribution of alpha 1 antitrypsin genotypes and correlate it with the severity of pulmonary disease in patients with cystic fibrosis. Method: A clinical and laboratory cross sectional study of 70 patients at the Universidade Estadual de Campinas teaching hospital. Cystic fibrosis diagnoses was confirmed by both clinical and laboratory methods. The severity of cystic fibrosis was evaluated by Shwachman score. All the patients were tested for the presence of S and Z alleles for alpha 1 antitrypsin deficiency using polymerase chain reaction. Results: Nine (12.8%) patients were heterozygous for S or Z alleles or the heterozygote compound (SZ). No significant differences were found in clinical severity of Cystic fibrosis between genotypes of alpha 1 antitrypsin. No significant differences were found when the patients were divided according to the presence or absence of the DF508 mutation. Conclusion: In this study, the first undertaken in Brazil into the association of alpha 1 antitrypsin deficiency and cystic fibrosis, we did not find an association between the deficiency and cystic fibrosis severity. Copyright © 2005 by Sociedade Brasileira de Pediatria.816485490Cystic Fibrosis Mutation Database, , www.genet.sickkids.on.ca/cftr/Vankeerberghen, A., Cuppens, H., Cassiman, J.J., The cystic fibrosis transmembrane conductance regulator: An intriguing protein with pleiotropic functions (2002) J Cystic Fibr, 1, pp. 13-29Pelmutter, D.H., Clinical manifestations of alpha-1-antitrypsin deficiency (1995) Gastroenterol Clin N Am, 24, pp. 27-43Lai, E.C., Kao, F.T., Law, M.L., Woo, S.L., Assignment of the alpha-1-antitrypsin gene and a sequence- Related gene to human chromosome 14 by molecular hybridization (1983) Am J Hum Genet, 35, pp. 385-392Faber, J.P., Poller, W., Weidinger, S., Kirchgesser, M., Schwaab, R., Bidlingmaier, F., Identification and DNA sequence analysis of 15 new alpha-1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele (1994) Am J Hum Genet, 55, pp. 1113-1121Pierce, J.A., Antitrypsin and emphysema: Perspectives and prospects (1988) J Am Med Ass, 259, pp. 2890-2895Sommerhoff, C.P., Nadel, J.A., Basbaum, C.B., Caughey, G.H., Neutrophil elastase and cathepsin G stimulate secretion from cultured bovine airway gland serous cells (1990) J Clin Invest, 85, pp. 682-689Mahadeva, R., Westerbeek, R.C., Perry, D.J., Lovegrove, J.U., Whitehouse, D.B., Carroll, N.R., Alpha1 antitrypsin deficiency alleles, the Taq- I G→A allele and cystic fibrosis lung disease (1998) Eur Respir J, 11, pp. 873-879Mahadeva, R., Sharples, L., Roos-Russell, R.I., Webb, A.K., Bilton, D., Lomas, D.A., Association of Alpha1 antichimotrypsin deficiency with milder lung disease in patients with cystic fibrosis (2001) Thorax, 56, pp. 53-58Frangolias, D.D., Ruan, J., Wilcox, P.J., Davidson, A.G., Wong, L.T., Berthiaume, Y., Alpha-1-antitrypsin deficiency alleles in cystic fibrosis lung disease (2003) Am J Respir Cell Mol Biol, 29, pp. 390-396Gibson, L.E., Cooke, R.E., A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis (1959) Pediatrics, 23, pp. 545-549Shwachman, H., Kulczycki, L.L., Long term study of 105 patients with cystic fibrosis: Studies made over a five to fourteen year period (1958) Am J Dis Child, 96, pp. 6-15Andresen, B.S., Knudsen, I., Jensen, P.K., Rasmussen, K., Gregersen, N., Two novel nonradioactive polymerase chain reaction based assays of dried blood spots, genomic DNA or whole cells for fast, reliable detection of Z and S mutations in the alpha-1-antitrypsin gene (1992) Clin Chem, 38, pp. 2100-2103Pagotto, R.C., (1993) Polimorfismo Da Alfa1-1- Antitripsina Humana Em Populações Brasileiras, , [dissertação]. São Paulo: Universidade de São PauloAlvarez, A.E., Ribeiro, A.F., Hessel, G., Bertuzzo, C.S., Ribeiro, J.D., Fibrose Cística em um centro de referência no Brasil: Características clínicas e laboratoriais de 104 pacientes e sua associação com o genótipo e a gravidade da doença (2004) J Pediatr, 80, pp. 371-379. , Rio JDomee Espinoza, M.D., (1998) Fibrose Cística Em Jovens e Adultos Do Hospital Das Clínicas Da UNICAMP, , [dissertação]. Campinas: Universidade Estadual de CampinasSuter, S., Schaad, U.B., Morgenthaler, J.J., Fibronectin-cleaving activity in bronchial secretions of patients with cystic fibrosis (1988) J Infect Dis, 158, pp. 89-100Allen, E.D., Opportunities for the use of aerosolized alpha 1 antitrypsin for the treatment of cystic fibrosis (1996) Chest, 110, pp. S256S-60Doring, G., Krogh-Johansen, H., Weidinger, S., Allotypes of alpha 1 antitrypsin in patients with cystic fibrosis, homozygous and heterozygous for delta F508 (1994) Pediatr Pulmon, 18, pp. 3-7Meyer, P., Braun, A., Roscher, A.A., Analysis of the two common alpha-1-antitrypsin deficiency alleles PiMS and PiMZ as modifiers of Pseudomonas aeruginosa susceptibility in cystic fibrosis (2002) Clin Genet, 62, pp. 325-327Belaaouaj, A., McCarthy, R., Baumann, M., Mice lacking neutrophil elastase reveal impaired host defense against gram negative bacterial sepsis (1998) Nature Med, 4, pp. 615-618Mahadeva, R., Stewart, S., Bilton, D., Lomas, D.A., Alpha1 antitrypsin deficiency alleles and severe cystic fibrosis lung disease (1998) Thorax, 53, pp. 1022-1024Mahadeva, R., Lomas, D.A., Secondary genetic factors in cystic fibrosis lung disease (2000) Thorax, 55, p. 446McKone, E.F., Emerson, S.S., Edwards, K.L., Aitken, M.L., Effect of genotype on phenotype and mortality in cystic fibrosis: A retrospective cohort study (2003) Lancet, 361, pp. 1671-1676Kerem, E., Kerem, B., Genotype-phenotype correlations in cystic fibrosis (1996) Pediatr Pulmonol, 22, pp. 387-395Dork, T., Wulbrand, U., Richter, T., Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene (1991) Hum Genet, 87, pp. 441-446Bienvenu, T., Les bases molículaires de l'hétérogénéité phénotypique dans la muviscidose (1997) Ann Biol Clin, 55, pp. 113-121Accurso, F.J., Sontag, M.K., Seeking modifier genes in cystic fibrosis (2003) Am J Respir Crit Care Med, 167, pp. 289-29

    Time series forecasting with the WARIMAX-GARCH method

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    It is well-known that causal forecasting methods that include appropriately chosen Exogenous Variables (EVs) very often present improved forecasting performances over univariate methods. However, in practice, EVs are usually difficult to obtain and in many cases are not available at all. In this paper, a new causal forecasting approach, called Wavelet Auto-Regressive Integrated Moving Average with eXogenous variables and Generalized Auto-Regressive Conditional Heteroscedasticity (WARIMAX-GARCH) method, is proposed to improve predictive performance and accuracy but also to address, at least in part, the problem of unavailable EVs. Basically, the WARIMAX-GARCH method obtains Wavelet “EVs” (WEVs) from Auto-Regressive Integrated Moving Average with eXogenous variables and Generalized Auto-Regressive Conditional Heteroscedasticity (ARIMAX-GARCH) models applied to Wavelet Components (WCs) that are initially determined from the underlying time series. The WEVs are, in fact, treated by the WARIMAX-GARCH method as if they were conventional EVs. Similarly to GARCH and ARIMA-GARCH models, the WARIMAX-GARCH method is suitable for time series exhibiting non-linear characteristics such as conditional variance that depends on past values of observed data. However, unlike those, it can explicitly model frequency domain patterns in the series to help improve predictive performance. An application to a daily time series of dam displacement in Brazil shows the WARIMAX-GARCH method to remarkably outperform the ARIMA-GARCH method, as well as the (multi-layer perceptron) Artificial Neural Network (ANN) and its wavelet version referred to as Wavelet Artificial Neural Network (WANN) as in [1], on statistical measures for both in-sample and out-of-sample forecasting

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

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

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    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

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    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

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

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    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
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