0000000000647682
AUTHOR
M. Aricò
Some genotypic and environmental conditions of the host in cutaneous malignant melanoma
The factors involving the development of melanoma vary according to the phenotype and environment conditions experienced by the host MC1R variant alleles that are associated with increased melanoma risk are likely to sensitize melanocytes to DNA damage by ultraviolet (UV) exposure, and the interactions between UV radiation and the genome induce melanoma. In fact, the non-functional MC1R cells have a very slow rate of cyclobutane pyrimidine dimers removal. The most significant mutations induced by UV in the skin occur in the CDKN2A gene being the major target of UV, that encodes 2 distinct proteins cell cycle regulators: p16INK4A and p14ARF. Inactivation of both tumor suppressors results in …
Non invasive evaluation of endothelial function in patients with Anderson-Fabry disease.
AIM: Fabry's disease is an X-linked recessive abnormality of glycosphingolipid metabolism. Increased levels of endothelial prothrombotic factors have recently been demonstrated in Fabry's disease, whereas endothelial function has not been studied using high resolution ultrasound. METHODS: We enrolled 6 patients (4 male, 2 female; mean age, 37 years) and 12 sex matched control subjects (mean age, 37 years). Patients' exclusion criteria included a prior history of cardiac disease, diabetes and treated or untreated hypertension. Patients underwent: anamnesis, physical examination, EKG, 2-dimensional echocardiography with tissue Doppler, measurement of body weight and height, blood pressure. Bi…