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| Lima,Carmen Silvia Passos; Néri,Iramaia Angélica; Lourenço,Gustavo Jacob; Faria,Isabel Cristina Jacinto; Ribeiro,José Dirceu; Bertuzzo,Carmen Silvia. |
| Xenobiotics can trigger degranulation of eosinophils and mast cells. In this process, the cells release several substances leading to bronchial hyperactivity, the main feature of atopic asthma (AA). GSTM1 and GSTT1 genes encode enzymes involved in the inactivation of these compounds. Both genes are polymorphic in humans and have a null variant genotype in which both the gene and corresponding enzyme are absent. An increased risk for disease in individuals with the null GST genotypes is therefore, but this issue is controversial. The aim of this study was to investigate the influence of the GSTM1 and GSTT1 genotypes on the occurrence of AA, as well as on its clinical manifestations. Genomic DNA from 86 patients and 258 controls was analyzed by polymerase... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Atopic asthma; Pathogenesis; GSTM1 gene; GSTT1 gene. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300007 |
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| Rodriguez,David Enrique Aguilar; Lima,Carmen Silvia Passos; Lourenço,Gustavo Jacob; Figueiredo,Maria Estela; Carneiro,Jorge David Aivazoglu; Tone,Luiz Gonzaga; Llerena Jr.,Juan Clinton; Toscano,Raquel Alves; Brandalise,Silvia; Pinto Júnior,Walter; Costa,Fernando Ferreira; Bertuzzo,Carmen Sílvia. |
| Fanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA patients in Brazil. OBECTIVE: This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS: Genomic DNA obtained from 22 racially and ethnically diverse unrelated FA patients (mean age ± SD: 14.0 ± 7.8 years; 10 male, 12 female; 14 white, 8 black) was analysed by polymerase chain reaction and restriction site assays for identification of FANCA (delta3788-3790) and FANCC (delta322G, IVS4+4A -> T,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fanconi anaemia; DEB test; Molecular diagnosis; FANCA; FANCC. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200004 |
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| Lima,Carmen Silvia Passos; Lourenço,Gustavo Jacob; Lorand-Metze,Irene; Nascimento,Helvia; Saad,Sara Teresinha Ollala; Costa,Fernando Ferreira. |
| Exposure to benzene has been associated with haematological diseases such as neutropenia (NEB) and acute myeloid leukaemia (AML). We tested whether the null genotypes of the GSTM1 and GSTT1 genes, involved in benzene inactivation, altered the risk for NEB in southeastern Brazil. Genomic DNA from 55 NEB patients and 330 controls was analysed by multiplex-polymerase chain reaction. The frequency of the GSTM1, GSTT1 and combined null genotypes was similar in patients and controls (GSTM1, 27.3% vs. 38.8%, p = 0.16; GSTT1, 25.5% vs. 19.7%, p = 0.24; GSTM1/GSTT1, 12.7% vs. 6.7%, p = 0.26; respectively). The distribution of genotype classes in NEB patients was similar to normal controls, suggesting that GSTM1 and GSTT1 null genotypes make no specific contribution... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Neutropenia; Glutathione S-transferase; GSTM1; GSTT1. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400006 |
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| Visacri,Marília Berlofa; Souza,Cinthia Madeira de; Pimentel,Rafaela; Barbosa,Cristina Rosa; Sato,Catarina Miyako Shibata; Granja,Silvia; Marialva,Mécia de; Lima,Carmen Silvia Passos; Mazzola,Priscila Gava; Moriel,Patrícia. |
| The high toxicity and narrow therapeutic window of antineoplastic agents makes pharmacovigilance studies essential in oncology. The objectives of the current study were to analyze the pattern of spontaneous notifications of adverse drug reactions (ADRs) in oncology patients and to analyze the incidence of ADRs reported by outpatients on antineoplastic treatment in a tertiary care teaching hospital. To compose the pattern of ADR, the notification forms of reactions in oncology patients in 2010 were reviewed, and the reactions were classified based on the drug involved, mechanism, causality, and severity. To evaluate the incidence of reactions, a questionnaire at the time of chemotherapy was included, and the severity was classified based on the Common... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Pharmacovigilance; Oncovigilance; Drugs/adverse reactions; Adverse drug reactions/under-reporting; Adverse drug reactions/Spontaneous notification; Clinical pharmacy. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1984-82502014000200411 |
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| Fattori,André; Kimura,Elza Miyuki; Albuquerque,Dulcinéia Martins de; Ogo,Satie Hatsushika; Stoppa,Graziela Renata; Martins,Juliana Touquinha; Lima,Carmen Silvia Passos; Saad,Sara Terezinha Ollala; Costa,Fernando Ferreira; Sonati,Maria de Fátima. |
| 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. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Polycythemia; Erythrocytosis; Hb Coimbra; Beta-globin gene. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000200002 |
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