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- Systemic lupus erythematosus in Europe at the change of the millennium:Lessons from the "Euro-Lupus Cohort"Publication . Cervera, R.; Abarca-Costalago, M.; Abramovicz, D.; Allegri, F.; Annunziata, P.; Ayditung, A.; Bacarelli, M.; Bellisai, F.; Bernardino, I.; BIERNAT‐KALUZA, M.; BLOCKMANS, D.; BOKI, K.; BRACCI, L.; Campanella, V.; Camps, M.; Carcassi, C.; Cattaneo, R.; Cauli, A.; Chwalinska‐Sadowska, H.; Contu, I.; Cosyns, J.; Danieli, M.; D'cruz, D.; Depresseux, G.; Direskeneli, H.; Domènech, I.; Fernández‐Nebro, A.; Ferrara, G.; Font, J.; Frutos, M.; Galeazzi, M.; García‐Carrasco, M.; García-Iglesias, M.; García‐Tobaruela, A.; George, J.; Gil, A.; González‐Santos, P.; Grana, M.; Gül, A.; Haga, H.; De Haro‐Liger, M.; Houssiau, F.; Hughes, G.; Ingelmo, M.; Jedryka‐Góral, A.; khamashta, M.; Lavilla, P.; Levi, Y.; López‐Dupla, M.; López‐Soto, A.; Maldykowa, H.; Marcolongo, R.; Mathieu, A.; Morozzi, G.; Nicolopoulou, N.; Papasteriades, C.; Passiu, G.; Perelló, I.; Petera, P.; Petrovic, R.; Piette, J.; Pintado, V.; De Pita, O.; Popovic, R.; Pucci, G.; Puddu, P.; De Ramón, E.; Ramos‐Casals, M.; Rodríguez‐Andreu, J.; Ruiz‐Irastroza, G.; Sánchez‐Lora, J.; Sanna, G.; Scorza, R.; Sebastini, G.; Sherer, Y.; Shoenfeld, Y.; Simpatico, A.; Sinico, R.; Smolen, J.; Tincani, A.; Tokgöz, G.; Urbanomárquez, A.; Vasconcelos, C.; Vázquez, J.; Veronesi, M.; Vianni, J.; Vivancos, J.The bEuro-Lupus CohortQ is composed by 1000 patients with systemic lupus erythematosus (SLE) that have been followed prospectively since 1991. These patients have been gathered by a European consortium—the bEuro-Lupus Project GroupQ. This consortium was originated as part of the network promoted by the bEuropean Working Party on SLEQ, a working group created in 1990 in order to promote research in Europe on the different problems related to this disease. The bEuro-Lupus CohortQ provides an updated information on the SLE morbidity and mortality characteristics in the present decade as well as defines several clinical and immunological prognostic factors
- Genes, crianças e pediatras: Síndrome de Rubinstein-TaybiPublication . J. Pinto-Basto; G. Soares; S. Lira; M. Azevedo; M. Martins; M. Reis Lima
- A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overloadPublication . Cruz, E.; Vieira, J.; Almeida, S.; Lacerda, R.; Gartner, A.; Cardoso, C.; Alves, H.; Porto, G.Abstract BACKGROUND: It has been recently demonstrated that CD8+ T-lymphocyte numbers are genetically transmitted in association with the MHC class I region. The present study was designed with the objective of narrowing the region associated with the setting of CD8+ T-lymphocyte numbers in a population of C282Y homozygous hemochromatosis subjects, in whom a high prevalence of abnormally low CD8+ T-lymphocyte counts has been described. METHODS: The study includes 43 C282Y homozygous subjects fully characterized both phenotypically and genotypically. Clinical characterization includes measurements of iron parameters at diagnosis (transferrin saturation and serum ferritin), total body iron stores and T-cell immunophenotyping determined by flow cytometry. Genetic characterization includes HLA class I alleles (A, B and C) and four additional microsatellite markers (D6S265, D6S2222, D6S105 and D6S2239) spanning 5 Megabases in the 6p21.3 region. RESULTS: Eighty-two extended C282Y carrying haplotypes were defined. Single-locus analysis revealed that the HLA-A region was associated with CD8+ T-cell numbers. Multivariate analysis showed that the combinations of the most common HLA-A alleles (HLA-A*03, -A*02 and -A*01) were associated with significantly lower numbers of CD8+ T-lymphocytes (0.30 +/- 0.14 x 106/ml), in comparison with subjects carrying only one copy of those alleles (0.46 +/- 0.19 x 106/ml) and subjects without any copy of those alleles (0.79 +/- 0.15 x 106/ml;p = 0.0001). No differences were observed in CD8+ T-cell counts among control subjects carrying the same combinations of HLA-A alleles (0.47 +/- 0.14; 0.45 +/- 0.21 and 0.41 +/- 0.17 x 106/ml, respectively), therefore not supporting a direct effect of HLA specificity but rather an indirect association with a locus close to HLA-A. Multivariate analysis showed that the combination of the most common HLA-A alleles also have an impact on the clinical expression of HH in terms of iron stores, in males(p = 0.0009). CONCLUSION: The present study provides evidence supporting an inextricable link between extended HLA haplotypes, CD8+ T-lymphocyte numbers and severity of iron overload in hereditary hemochromatosis(HH). It gives additional information to better define a candidate region involved in the regulation of CD8+ T-lymphocyte numbers. A new evolutionary hypothesis concerning the inheritance of the phenotype of low CD8+ T-lymphocyte numbers associated with particular ancestral HLA haplotypes carrying the C282Y mutation and its implication on the clinical heterogeneity of HH is discussed.
- Bioética em reprodução medicamente assistidaPublication . Coelho, C.A Organização Mundial de Saúde (OMS) considera a infertilidade como uma doença que atinge 15 a 20 % dos casais em idade reprodutiva e declara que todos os cidadãos por ela afectados têm direito a ser devidamente tratados. O tratamento da infertilidade tornase cada vez mais importante mas, à medida que a ciência evolui nessa área, vão-se levantando cada vez mais problemas de ordem ética e moral. Reflectir acerca dos princípios bioéticos na reprodução medicamente assistida é saudável - nem sempre se pensa antes de agir, muitas vezes trabalha-se mecanicamente, sem se questionar qualquer assunto. O objectivo deste artigo é estimular a atitude de “parar antes de agir” perante casos semelhantes que se nos deparam no dia a dia, mantendo a mente sã. ABSTRACT The World Health Organisation (WHO) considers that infertility is a disease that affects 15-20% of couples of reproductive age, and has declared that everyone affected has the right to appropriate treatment. The treatment of infertility is increasingly important but as the science involved in this area develops so will the associated ethical and moral problems increase. To reflect on bioethical principles in Assisted Reproduction Techniques is healthy, not always does one think before acting, many times work is mechanical and does not question any subject. The objective of this article is to stimulate the attitude “stop first, do later” by showing cases similar to those we may meet on a daily basis, while keeping a clear mind.