13 research outputs found

    Association Between Alpha 1 Antitrypsin Deficiency And Cystic Fibrosis Severity

    Get PDF
    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

    PROMOÇÃO DA SAÚDE E PREVENÇÃO DE DOENÇAS: RESPONSABILIDADE INDIVIDUAL OU RESPONSABILIDADE SOCIAL

    No full text
    No presente artigo aborda-se alguns pressupostos teóricos que têm norteado a promoção da saúde. Alguns questionamentos são apontados quanto as intervenções profissionais que preconizam a promoção da saúde como responsabilidade individual Sugere-se o enfoque em que as mudanças sociais sejam alcançadas através da conscientização profissional quanto aos aspectos sociais, políticos, econômicos e comportamentais que exercem influência na saúde da população e a incorporação dos mesmos na interação enfermeira(o)-cliente

    a longitudinal analysis using data from Brazil

    No full text
    The Brazilian Unified Health System was created in the late 1980s to ensure free universal access to health care and was funded by taxes and social contributions. The persistent inequity in access to health services in favour of richer individuals in Brazil has been observed in the literature. However, to the best of our knowledge, no measurement of inequality in medicine use or private health insurance (PHI) among children has been performed with longitudinal data. This paper uses inequality indices and their decompositions to analyse the income-related inequalities/inequities in children's health care in the city of Pelotas, Brazil, using longitudinal data following children from 12 to 72 months of age. Our sample with data in all waves has between 1877 and 2638 children (varying according to outcome). We seek to answer three questions: i) How does the inequality/inequity in health care evolve as children grow up? ii) What are the main factors associated with inequality in children's health care? iii) How much of the change in inequality/inequity is explained by mobility in children's health care and income mobility? We found that inequities in health care have their beginnings in early childhood but that there was a reduction in inequity at 72 months of age. Ownership of children's PHI was associated with greater pro-rich inequity in health care. The reduction in inequality/inequity was linked to mobility in the sense that initially poorer children had greater gains in health care (a greater increase in PHI ownership and a lower reduction in medicine use). Despite this improvement among the poorest, apparently, the Brazilian public health service seems to fail to ensure equity in health care use among children, with possible long-term consequences on inequalities in health.publishersversionpublishe

    The effect of methylphenidate and rearing environment on behavioral inhibition in adult male rats

    No full text
    The effect of the type of CNT (functionalized and non-functionalized) on the dielectric relaxation phenomena and conductivity of MWCNT/chitosan (MWCNT/CS) was investigated. Composites were prepared by the solvent cast method by homogeneously dispersing CNT into a CS matrix. FTIR analysis suggests the formation of hydrogen bonding in functionalized-MWCNT/CS whereas the CS remains unaffected in non-functionalized films. In the low conductivity region, the ?-relaxation process associated with a glass transition in CS is affected by the MWCNT; the Vogel temperature increases due to a decrease of the water content. The ?-relaxation exhibits a typical Arrhenius-type temperature dependence that is independent on the moisture content. Strong interfacial interactions of functionalized-MWCNT with the CS matrix are responsible for high values of the contact resistance Rc between individual CNT. Conversely, non-functionalized MWCNTs exhibit a typical 3D percolation threshold at ca. 4 wt %. " 2015 Elsevier B.V. All rights reserved.",,,,,,"10.1016/j.matchemphys.2015.02.041",,,"http://hdl.handle.net/20.500.12104/45086","http://www.scopus.com/inward/record.url?eid=2-s2.0-84924626391&partnerID=40&md5=2077a8248f1178527deca8ec39ee5bde",,,,,,,,"Materials Chemistry and Physics",,"25
    corecore