RESUMEN
Myelodysplastic syndrome diagnosis of karyotypically normal patients may be elusive because it relies exclusively on morphological and clinical data. In routine practice, finding of an acquired mutation or a cytogenetic abnormality provides irrefutable evidence of the clonal nature of that disease. Recurrent deletions and somatic mutations in TET2, a gene involved in epigenetic regulation, have been reported in about 20% of adult patients with myelodysplastic syndrome. We report a novel g.95805C>T, nonsense TET2 mutation, leading to a premature stop codon (p.Gln913*), in an adult patient with refractory cytopenia with multilineage dysplasia.
Asunto(s)
Codón sin Sentido , Proteínas de Unión al ADN/genética , Síndromes Mielodisplásicos/genética , Proteínas Proto-Oncogénicas/genética , Anciano , Dioxigenasas , Femenino , Humanos , Síndromes Mielodisplásicos/diagnósticoRESUMEN
Análise da qualidade de plantas comercializadas para fins terapêuticos em mercados públicos de São Luís/MA. Realizou-se pesquisa de elementos estranhos, avaliação das características macroscópicas, determinação do teor de umidade e pesquisa de contaminantes microbiológicos, comprovandose a má qualidade do material vegetal disponibilizado à população maranhense, expondo ao risco real de aquisição e utilização de produto impróprio para consumo.
Qualitative analysis of plants commercialized for medical purposes in public markets in São Luís/MA. It's made a research on strange materials, evaluation of macroscopic characteristics, determination of humidity level and research on microbiological contamination, this way proving the bad quality of vegetable material available for the population in Maranhão state.