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Submitted by Guilherme Lemeszenski (guilherme@nead.unesp.br) on 2013-08-22T19:03:49Z No. of bitstreams: 1 S0004-27302013000100005.pdf: 348533 bytes, checksum: c8345ad912e0be6c0f2e4b2f2c995bd5 (MD5) Made available in DSpace on 2013-08-22T19:03:49Z (GMT). No. of bitstreams: 1 S0004-27302013000100005.pdf: 348533 bytes, checksum: c8345ad912e0be6c0f2e4b2f2c995bd5 (MD5) Previous issue date: 2013-02-01 Made available in DSpace on 2013-09-30T20:06:09Z (GMT). No. of bitstreams: 2 S0004-27302013000100005.pdf: 348533 bytes, checksum: c8345ad912e0be6c0f2e4b2f2c995bd5 (MD5) S0004-27302013000100005.pdf.txt: 52872 bytes, checksum: 314d6833f1fc326e92a35d96062e2c40 (MD5) Previous issue date: 2013-02-01 Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-20T13:56:46Z No. of bitstreams: 2 S0004-27302013000100005.pdf: 348533 bytes, checksum: c8345ad912e0be6c0f2e4b2f2c995bd5 (MD5) S0004-27302013000100005.pdf.txt: 52872 bytes, checksum: 314d6833f1fc326e92a35d96062e2c40 (MD5) Made available in DSpace on 2014-05-20T13:56:46Z (GMT). No. of bitstreams: 2 S0004-27302013000100005.pdf: 348533 bytes, checksum: c8345ad912e0be6c0f2e4b2f2c995bd5 (MD5) S0004-27302013000100005.pdf.txt: 52872 bytes, checksum: 314d6833f1fc326e92a35d96062e2c40 (MD5) Previous issue date: 2013-02-01 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) OBJETIVO: Analisar a influência da associação dos polimorfismos do gene da sintase do óxido nítrico endotelial (NOS3) para as posições -786T>C, Glu298Asp e íntron 4b/a e a aptidão cardiorrespiratória sobre as concentrações de nitrito/nitrato, pressão arterial, perfil lipídico e prevalência de doenças cardiometabólicas em adultos. SUJEITOS E MÉTODOS: Noventa e duas pessoas foram divididas de acordo com o genótipo: não polimórficas (NP) e polimórficas (P). Posteriormente, foram subdivididas pela aptidão cardiorrespiratória associada ao genótipo: alta (ANP e AP) ou baixa (BNP e BP). RESULTADOS: Os indivíduos que apresentavam polimorfismo para as posições Glu298Asp+Íntron 4b/a e Glu298Asp+-786T>C e baixa aptidão cardiorrespiratória apresentaram maiores valores de colesterol total e maior prevalência de dislipidemia. CONCLUSÃO: Nossos dados demonstram que os polimorfismos do gene da NOS3 para essas duas associações influenciam os níveis de colesterol plasmático, e essa associação foi mais claramente observada quando os indivíduos apresentavam menor nível de aptidão cardiorrespiratória. OBJECTIVE: To evaluate the influence of the interaction between endothelial nitric oxide synthase gene (NOS3) polymorphisms at positions -786T>C, Glu298Asp and intron 4b/a, and cardiorespiratory fitness on plasma nitrite/nitrate levels, blood pressure, lipid profile, and prevalence of cardiometabolic disorders. SUBJECTS and METHODS: Ninety-two volunteers were genotyped for NOS3 polymorphisms at positions (-786T>C and Glu298Asp) and (intron 4b/a) and divided according to the genotype: non-polymorphic (NP) and polymorphic (P). After that, they were subdivided according to the cardiorespiratory fitness associated with genotype: high (HNP and HP) and low (LNP and LP). RESULTS: The subjects with polymorphism for the interactions at positions Glu298Asp + intron 4b/a, and Glu298Asp+-786T>C showed the highest values in total cholesterol, as well as dyslipidemia. CONCLUSION: Our findings show that NOS3 gene polymorphisms at positions -786T>C, Glu298Asp, and intron 4b/a exert negative effects on the lipid profile compared with those who do not carry polymorphisms. Universidade Estadual Paulista (Unesp) Instituto de Biociências Laboratório de Fisiologia Cardiovascular e Atividade Física Universidade Estadual de Campinas (FCM-Unicamp) Faculdade de Ciências Médicas Centro de Hematologia e Hemoterapia Universidade Estadual Paulista (Unesp) Instituto de Biociências Laboratório de Evolução Molecular Universidade Estadual Paulista (Unesp) Instituto de Biociências Laboratório de Fisiologia Cardiovascular e Atividade Física Universidade Estadual Paulista (Unesp) Instituto de Biociências Laboratório de Evolução Molecular

Chagas disease in the chronic phase may develop into cardiac and/or digestive forms. The pathogenesis of the disease is not yet clear and studies have been carried out to elucidate the role of parasite persistence in affected organs. The aim of this study was to detect and quantify Trypanosoma cruzi in paraffin-embedded tissue samples from chronic patients using NPCR (nested polymerase chain reaction) and QPCR (quantitative polymerase chain reaction) methods. These results were correlated to anatomopathological alterations in the heart and gastrointestinal tract (GIT). Of the 23 patients studied, 18 presented the cardiac form and five presented the cardiodigestive form of Chagas disease. DNA samples were randomly isolated from formalin-fixed paraffin-embedded sections of heart and GIT tissue of 23 necropsies and were analyzed through NPCR amplification. T. cruzi DNA was detected by NPCR in 48/56 (85.7%) heart and 35/42 (83.3%) GIT samples from patients with the cardiac form. For patients with the cardiodigestive form, NPCR was positive in 12/14 (85.7%) heart and in 14/14 (100%) GIT samples. QPCR, with an efficiency of 97.6%, was performed in 13 samples (11 from cardiac and 2 from cardiodigestive form) identified previously as positive by NPCR. The number of T. cruzi copies was compared to heart weight and no statistical significance was observed. Additionally, we compared the number of copies in different tissues (both heart and GIT) in six samples from the cardiac form and two samples from the cardiodigestive form. The parasite load observed was proportionally higher in heart tissues from patients with the cardiac form. These results show that the presence of the parasite in tissues is essential to Chagas disease pathogenesis.

We report the clinical and laboratory findings concerning three unrelated Brazilian patients investigated for polycythemia, whose definitive diagnosis could only be established after the presence of Hb Coimbra (b99 Asp ® Glu) was demonstrated. This illustrates the importance of properly investigating hereditary hemoglobinopathies in cases of erythrocytosis because in some populations variants with high oxygen affinity may be more frequent than expected but go undetected when conventional electrophoresis is used as the sole detection procedure.

We report the coexistence of Hb Camperdown [beta104 (G6) Arg -> Ser] and beta°-thalassemia [beta39 (Gln -> stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's beta-thalassemia trait. His Hb Camperdown heterozygous father was clinically and hematologically normal. To our knowledge, this is the first description of an association of beta°-thalassemia with Hb Camperdown.