ABSTRACT
OBJECTIVE: To determine whether methylene tetrahydrofolate reductase (MTHFR) C677T mutation, factor II G20210A mutation and factor V Leiden are risk factors for retinal vein occlusion (RVO) in patients under fifty years of age. METHODS: Comparison of 29 patients, under 50 years old of age, as affected RVO and 62 age matched normal controls. Plasma MTHFR C677T genotype, Factor II G20210A genotype, Factor V Leiden genotype, S protein level, C protein level, APCR presence (Actived Protein C Resistance), homocysteine level and Beta-thromboglobulin level were determined. RESULTS: Seventeen RVO patients and twenty-one controls were heterozygous for the MTHFR C677T mutation. Three RVO patients and twenty-three controls were homozygous for the MTHFR C677T mutation. Three RVO patients and two controls were heterozygous for the factor II G20210A mutation. One control was heterozygous for the factor V Leiden. CONCLUSIONS: This study fails to demonstrate that these mutations are risk factors for RVO in patients under fifty years of age.
Subject(s)
Factor V/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Mutation , Prothrombin/genetics , Retinal Vein Occlusion/genetics , Activated Protein C Resistance , Adolescent , Adult , Age Factors , Alleles , Analysis of Variance , Data Interpretation, Statistical , Female , Genotype , Heterozygote , Homocysteine/blood , Homozygote , Humans , Male , Middle Aged , Point Mutation , Retinal Vein Occlusion/etiology , Risk Factors , Sex FactorsABSTRACT
Os autores relatam um caso de amiloidose vesical primaria apresentando-se como massa no trigono e tendo a cistoscopia aspecto de uma massa vegetante. Sua resseccao permitiu o estabelecimento do diagnostico de amiloidose pela existencia de dicroismo dos cortes corados pelo vermelho do congo e examinados sob luz polarizada
