0000000001045620
AUTHOR
A. B. Cefalù
showing 2 related works from this author
Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia.
2002
Background and Aim: More than 750 mutations in the low-density lipoprotein (LDL) receptor gene are currently known to cause familial hypercholesterolemia (FH), but the array of mutations varies considerably in different populations. The definition of essentially all the LDL receptor gene mutations in a population is therefore a prerequisite for the implementation of nation-wide genetic testing for FH. Methods and Results: In this study, a screening strategy based on PCR-enzymatic digestion and PCR-allele specific hybridisation procedures was used to evaluate the frequency distributions of 11 known mutations in a cohort of 214 unrelated subjects meeting the diagnostic criteria of "probable" …
Distribution of risk factors, plasma lipids, lipoproteins and dyslipidemias in a small Mediterranean island: The Ustica Project
2003
Background and Aim: The populations of the Mediterranean area have a low incidence of cardiovascular disease (CHD). The aims of this paper are: 1) to present demographic data of the population of Ustica, a small island in the southern part of the Tyrrhenian sea that has reduced communications with the mainland and a diet presumably rich in fish; and 2) to evaluate the distribution of risk fa tors, plasma lipids, lipoproteins and dyslipidemias in this population. Methods and Results: We invited all of the free-living resident population aged more than 14 years (about 800 individuals) to participate in the study; 57 responded, for a participation rate of about 73%. The distribution of cardiov…