ABSTRACT
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of PKP2 mutations.
Subject(s)
Arrhythmogenic Right Ventricular Dysplasia/genetics , Mutation , Proteins/genetics , Adolescent , Desmosomes , Female , Humans , Male , Molecular Sequence Data , PlakophilinsABSTRACT
Dichlorodiphenyltrichloroethane (DDT), its main metabolites, and other organochlorines were analyzed in soils (n=6), fluvial sediments (n=14), and fish (n=10) that were collected in several areas of the Amazon region in Brazil. The samples were analyzed by capillary column gas chromatography coupled to electron capture detection. DDT residues were present in most of the collected sediments in concentrations of approximately 10 to 100 micro/kg (ppb, dry weight). Some urban top soils were found to have more than 1 mg/kg (ppm). In fish, as much as 0.5 mg/kg of total DDT (wet weight) was found in the edible parts. The presence of p,p'-DDT in most of the samples reflects the use of this insecticide against vectors of malaria between 1946 and 1993, which has led to its ubiquitous presence in the environment of the Brazilian Amazon.