Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of a novel frameshift mutation in the apoB gene

Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia.

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" …

PREVALENCE OF PCSK9 VARIANTS IN A COHORT OF SUBJECTS WITH HYPOCHOLESTEROLEMIA

ENHANCED LIPID PEROXIDATION AND PLATELET ACTIVATION AS POTENTIAL CONTRIBUTORS TO INCREASED CARDIOVASCULAR RISK IN THE “LOW-HDL” PHENOTYPE.

THE METABOLIC SYNDROME PREDICTS CARDIOVASCULAR EVENTS IN SUBJECTS WITH NORMAL GLUCOSE TOLERANCE. A 15 YEARS FOLLOW-UP IN A MEDITERRANEAN POPULATION

NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS.

Carotid atherosclerosis in hypercholesterolemic patients: Relationship with cardiovascular events

Background and Aim: Extracranial cerebrovascular atherosclerosis is a common feature of hypercholesterolemia and carotid lesions are good predictors of cardiovascular events in the general population. Factors associated with the carotid damage of hypercholesterolemic patients and their relationships with the occurrence of clinical events are investigated in this study. Methods and Results: One hundred and seventeen cardiovascular event-free hypercholesterolemic subjects underwent a complete clinical examination to look for additional risk factors. A blood sample was collected for lipoprotein determination and an ultrasound high resolution B-mode imaging examination of the common carotid art…

MISSENSE MUTATION ALA34VAL IN EXON 2 OF THE LIPOPROTEIN LIPASE GENE IN A YOUNG MAN WITH CHYLOMICRONEMIA.

HYPOALPHALIPOPROTEINEMIA ASSOCIATED TO CORNEAL OPACITIES IN ABSENCE OF LCAT DEFICIENCY.

MUSCLE DAMAGE AND PAIN IN HYPERCHOLESTEROLEMIC OUT-PATIENTS POPULATION ON STATIN TREATMENT.

FAMILIAL HYPOALPHALIPOPROTEINEMIA ASSOCIATED TO CORNEAL OPACITIES IN ABSENCE OF LCAT DEFICIENCY

Dislipidemia della sindrome metabolica . fisiopatologia e clinica