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1.
Genet Mol Res ; 14(2): 6533-42, 2015 Jun 12.
Article in English | MEDLINE | ID: mdl-26125858

ABSTRACT

Glioma is a term used to describe tumors derived from glial cells. These tumors are divided into subgroups based on the histological morphology and similarity of their differentiated glia cells. Traditionally, they are classified according to the World Health Organization and include astrocytomas, oligodendrogliomas, ependymomas, and oligoastrocytomas. Like most cancers, gliomas develop as a result of genetic changes that accumulate with tumor progression. Alterations in isocitrate dehydrogenase 1 (IDH1) and IDH2 were found to be relevant in the classification and prognostic of gliomas. Because of the importance of mutations in these genes, particularly in IDH1, in different proposals of the genesis and progression of gliomas, we analyzed the occurrence of mutations in these genes in samples obtained from patients from Belém (PA, Brazil) using polymerase chain reaction-single-strand conformation polymorphism followed by sequencing. We compared the results obtained from tumors of different malignancy grades, evaluating the significance of the associations between different variables. R132H was the only mutation found in 17.6% (6/34) of cases, including in astrocytomas, anaplastic astrocytomas, oligodendroglioma, and anaplastic oligoastrocytoma. No mutations were found in the IDH2 gene. We found no significant relationship between the identified mutations in IDH1 and the variables. Our data could not confirm that mutations in IDH1/IDH2 are indicative of malignancy and prognosis. However, the results support that the mutation in IDH1 gene was an early event in the development of gliomas, as it was found in tumors of different malignancy grades.


Subject(s)
Glioma/genetics , Isocitrate Dehydrogenase/genetics , Prognosis , Adolescent , Adult , Aged , Brazil , Child , Child, Preschool , Female , Glioma/pathology , High-Throughput Nucleotide Sequencing , Humans , Infant , Male , Middle Aged , Mutation , Neoplasm Grading , Polymorphism, Single-Stranded Conformational
2.
Ecotoxicol Environ Saf ; 91: 162-70, 2013 May.
Article in English | MEDLINE | ID: mdl-23485038

ABSTRACT

Imposex, a syndrome characterized by the appearance of a penis and/or vas deferens in female gastropods due the presence of organotins in environment, is still observed in Brazilian gastropod populations, as in other countries, even after the tributyltin (TBT) ban. Nevertheless, the progressive controls on the use of organotins in antifouling systems at national and international levels and the consequent reduction of their environmental concentrations have led to changes in the characteristics of imposex development observed in Stramonita haemastoma. Populations of this species were analyzed on the coast of Rio de Janeiro (Brazil) between 2007 and 2008, and the developmental pathways associated with the syndrome were identified. Compared with previous works, it was noted that imposex expression was reduced in most of Guanabara Bay. Aphallic imposex development, on the other hand, showed a marked increase. The pathways of imposex development were also evaluated in a temporal data series from a fixed sampling station at Vermelha beach, and the incidence of aphallic imposex development was found to show a marked increase from 1998 onward. Furthermore, the observation of either the presence or absence of a penis in imposex-affected females may indicate that penis development is related to the contaminant exposure level and that the decreasing TBT concentrations in the local environment result in the predominance of an aphallic route of imposex development. These findings support the idea that imposex female aphally in this species could be a dose-dependent response, rather than a genetic anomaly.


Subject(s)
Gastropoda/drug effects , Organotin Compounds/toxicity , Water Pollutants, Chemical/toxicity , Animals , Brazil , Female , Male , Trialkyltin Compounds/toxicity , Vas Deferens/drug effects
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