RESUMO
The efficacy and safety of a 2-year treatment with deferasirox was evaluated in 31 patients with sickle cell anemia and transfusional iron overload. At 24 months, there were significant decreases from baseline in mean serum ferritin (from 2,344.6 to 1,986.3 µg/l; p = 0.040) and in mean liver iron concentration (from 13.0 ± 5.4 to 9.3 ± 5.7 mg Fe/g dry weight; p < 0.001). Myocardial T2* values were normal (>20 ms) in all patients at baseline and did not change significantly over the course of the study. However, there was a significant improvement from baseline in left ventricular ejection fraction at 24 months (62.2-64.6%; p = 0.02). Deferasirox was generally well tolerated with no progressive increases in serum creatinine or renal failure observed. These data confirm that deferasirox is effective in reducing body iron burden in patients with sickle cell anemia and transfusional iron overload.
Assuntos
Anemia Falciforme/tratamento farmacológico , Benzoatos/uso terapêutico , Quelantes de Ferro/uso terapêutico , Sobrecarga de Ferro/tratamento farmacológico , Triazóis/uso terapêutico , Adolescente , Adulto , Benzoatos/efeitos adversos , Deferasirox , Feminino , Humanos , Quelantes de Ferro/efeitos adversos , Masculino , Estudos Prospectivos , Triazóis/efeitos adversos , Adulto JovemRESUMO
Introdução: A mutação BRAF representa a alteração genética maiscomum do câncer de tireoide e esta foi a descoberta mais notávelneste campo de pesquisa, nos últimos anos; estão presentes em23-83% dos carcinomas papilíferos e são altamente específicaspara este tipo histológico. Método: Estudamos 22 pacientes,com mais de 65 anos, e diagnóstico de carcinoma papilíferosubmetidos a tireoidectomia, analisando a mutação BRAFV600E através de reação de PCR-RT realizada após a extraçãodo DNA dos blocos de parafina. Resultados: Conseguimosdetectar a ausência ou presença da mutação BRAF V600E em17 pacientes (77,3%). Entre estes 17 carcinomas papilíferos, seteapresentavam a mutação (41,2%). Demonstramos associaçãoestatística entre a presença desta mutação e a variante clássicado carcinoma papilífero, além de tendência de associação como extravasamento tireoideano. Discussão: Embora a mutaçãoBRAF seja a anormalidade genética mais comum no carcinomapapilífero, o seu significado prognóstico ainda não está bemestabelecido. Estudos contraditórios têm sido publicados,provavelmente pela heterogeneidade do carcinoma papilífero aoredor do mundo. Conclusão: a mutação BRAF, nos pacientesidosos com carcinoma papilífero tem frequência expressiva, eestá relacionada com sua variante clássica.
RESUMO
BACKGROUND/AIM: In several populations, major histocompatibility complex and CTLA-4 (cytotoxic T lymphocyte antigen-4) gene polymorphisms are related to adult subjects with Graves' disease (GD). Our aim was to study the association of +49A>G polymorphism of the CTLA-4 gene in Brazilian children and adults with GD and its correlation with clinical and laboratory markers of disease severity. METHODS: CTLA-4 +49A>G polymorphism was established by polymerase chain reaction-restriction fragment length polymorphism analysis in 44 children and 72 adults with GD and compared to a stringent control group consisting of octogenarians with no history of thyroid disease; free T4 and T3 levels and T3/T4 ratio, antithyroid antibodies, and Graves' ophthalmopathy were also evaluated according to genotype. RESULTS: No significant difference was found in the frequency of CTLA-4 +49A>G polymorphism among children and adults with GD compared to controls and within groups. There was no significant correlation between the presence of G allele and Graves' ophthalmopathy, gender, age at diagnosis, and biochemical markers of disease severity. CONCLUSION: The frequency of CTLA-4 +49A>G polymorphism is not different in children and adults with GD compared to the normal control population and does not seem to contribute independently to the severity of the clinical presentation of GD.