Background —Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease of unknown etiology that causes arrhythmias, heart failure, and sudden death. Diagnosis can be difficult, and this hampers investigation of its molecular basis. Forms of ARVC in which gene penetrance and disease expression are greater should facilitate genetic study. We undertook a clinical and genetic investigation of Naxos disease, originally described by Protonotarios in 1986. This disease constitutes the triad of ARVC, diffuse nonepidermolytic palmoplantar keratoderma, and woolly hair. Methods and Results —We evaluated the population of Naxos, Greece, to identify probands, which was followed by family screening. Twenty-one affected persons from 9 families of 150 persons were identified. Linkage analysis was performed with microsatellite markers. The disease locus mapped to 17q21. A peak 2-point LOD score of 3.62 at θ=0.0 was found with a marker within intron 4 of the keratin 9 gene, a member of the type I (acidic) keratin family. A preserved homozygous disease haplotype was identified. Haplotype analysis delimited the disease interval. Conclusions —Hair and skin abnormalities were found to be reliable markers of subsequent heart disease. This suggests the presence of a single mutant gene with novel cardiac, skin, and hair function or two or more tightly linked disease genes. Recessive inheritance of Naxos disease and a founder effect were demonstrated. Identification of a fully informative genetic marker linked to the disease and uncommon in the background population may be of use as a test to identify disease gene carriers.

Sonographically guided core biopsy provides an accurate and safe alternative to FNAC in the assessment of thyroid nodules.

, 1-12%). The rectal infiltration took the form of an anterior rectal mass with or without ulceration in 52%, an annular stricture in 45%, and separate metastasis in 3%. In 40% of patients, a preceding history of prostatic adenocarcinoma was elicited at the time of gastrointestinal presentation, while in 60% it was not elicited. In the study group, 26% of patients underwent surgery; the most commonly performed procedure was a defunctioning colostomy (18%) to alleviate symptoms of large bowel obstruction. Five patients underwent rectal resection because the pre-operative diagnosis was suspected to be primary rectal adenocarcinoma. The median survival was 15 months (95% confidence interval 14-16 months). Survival beyond 30 months was rare.