Identification of a novel ANGPTL3 mutation splicing associeted to severe hypobetalipoproteinemia

Introduction. Primary hypobetalipoproteinemia (pHBL) is a monogenic heterogeneous condition inherited as a dominant or recessive trait characterized by total cholesterol (TC) and/or LDL cholesterol (LDL-C) and/or apolipoprotein B (APOB) levels below the 5th percentile of the reference population. Heterozygous APOB gene mutations are responsible for the majority of the dominant pHBL causing the familial hypobetalipoproteinemia (FHBL). Loss-of-function mutations in the PCSK9 gene also cause FHBL. Familial combined hypolipidemia is a recently discovered dyslipidemic phenotype characterized by low levels of TC, triglycerides (TG), LDL-C, and high-density lipoprotein cholesterol (HDL-C). The gen…

COMPOUND HETEROZYGOUS FH AND FDB: IDENTIFICATION OF A SICILIAN FAMILY HARBOURING THE FDB3531 MUTATION AND THE Y398X MUTATION OF THE LDL RECEPTOR GENE.

A NOVEL COMPOUND HETEROZYGOUS MUTATION OF THE LIPOPROTEIN LIPASE GENE IN A NEWBORN WITH CHYLOMICRONEMIA

IDENTIFICATION OF A HETEROZYGOUS COMPOUND INDIVIDUAL WITH AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA HARBOURING IN THE LDL-R GENE AND IN THE PCSK9 GENE

Use of the drug eluting stents with rapamicin in patients with anatomical or clinical patterns favouring restenosis: results of a 6-months follow-up on the first 100 patients. Intenational Angiology. 2004. 23(suppl.1)

Il Diabete di Tipo 2

PEAK PARTICLE SIZE AND THE EXTENSION OF CORONARY ATHEROSCLEROSIS IN 71 PATIENTS THAT UNDERWENT AN ANGIOGRAPHIC EXAM

A NOVEL NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS

VARIABLE PHENOTYPIC ESPRESSION IN A LIPID ABSORPTION DISORDER DUE TO A MOLECULAR DEFECT IN THE SARA2 GENE

FAMILIAL HYPOBETALIPOPROTEINEMIA DUE TO APOLIPOPROTEIN B GENE MUTATIONS CAUSES INTESTINAL FAT ACCUMULATION AND LIPID MALABSORPTION.

CLINICAL AND MOLECULAR CHARACTERIZATION OF HYPERCHOLESTEROLEMIC SICILIAN FAMILIES AND DESCRIPTION OF 3 NOVEL MUTATIONS IN THE LDLR GENE

EFFETTI “BEYOND CHOLESTEROL” DELLE STATINE

PREVALENZA DELLE LESIONI CAROTIDEE IN UNA POPOLAZIONE MEDITERRANEA DI IPERTESI

NOVEL NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS

Epidemiologia delle Malattie Cardiovascolari

Esiste un pattern ecografico associato alla steatosi capace di facilitare il suo riconoscimento etiologico?

TERAPIA CON STATINE IN PAZIENTI SICILIANI AFFETTI DA IPERLIPIDEMIA FAMILIARE COMBINATA

Familial combined hyperlipidemia (FCHL) is the most frequent genetic hyperlipidemia. FHCL is associated with high prevalence of cardiovascular disease. In this study we selected 208 patients affected by FHCL and evaluated the efficacy of the lipid-lowering statin therapy using different statins available in the market. The results show that the percent of patients reaching the therapeutic goal ranges from 19.7 % (LDL-C <100 mg/dL) to 50.9% (LDL-C <130 mg/dL) and from 16.9 % (non HDL-C <130 mg/dL) to 46.6 % (non HDL-C <160 mg/dL) according to the different ATPIII-NCEP-guidelines cut offs. In conclusion the statin monotherapy is only partly effective in the management of FCHL therapy

Low-density-lipoprotein peak particle size in a Mediterranean population.

Background: The predominance of small, dense low-density lipoprotein (LDL) particles ('LDL phenotype B') has been associated with a three-fold increased risk of myocardial infarction, but the feasibility of the identification of small, dense LDL as independent predictors of coronary artery disease risk in population studies remains questioned. Design: We evaluated the LDL peak particle size and its relation with other established risk factors for coronary heart disease in a group of 156 randomized subjects living on the Mediterranean island of Ustica (71 males and 85 women, range of age 20-69 years), representing approximately 30% of the total population. Results: The prevalence of LDL phen…

I LIVELLI DI CISTATINA C SONO RIDOTTI NELL’INFARTO MIOCARDIO ACUTO. EFFETTO DEL POLIMORFISMO G73A SUI LIVELLI PLASMATICI.

HYPOBETALIPOPROTEINEMIA AND FATTY LIVER: WHO IS THE CULPRIT

IDENTIFICATION OF A HETEROZYGOUS COMPOUND INDIVIDUAL WITH AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA HARBOURING A MUTATION IN THE LDL-R GENE AND IN THE PCSK9 GENE

UNA NUOVA MUTAZIONE DELL’INTRONE 16 (G>A a 2390 -1) DEL RECETTORE DELLE LDL RESPONSABILE DI IPERCOLESTEROLEMIA FAMILIARE. EFFETTI SULLA ESPRESSIONE DELL’mRNA DEL RECETTORE DELLE LDL

FAMILIAL LIGAND-DEFECTIVE APOLIPOPROTEIN B: IDENTIFICATION OF A FAMILY HARBOURING THE ARG3531CYS (FDB3531) OF THE APOB GENE

CEREBROTENDINOUS XANTHOMATOSIS: A SICILIAN FAMILY HARBOURING THE R362C MUTATION IN THE STEROL 27-HYDROXYLASE GENE

ApoE polymorphism in a small Mediterranean island: Relationships with plasma lipids, lipoproteins and LDL particle size

Polymorphisms of apoE gene are able to modulate lipoprotein metabolism at different steps and to influence LDL-cholesterol (LDL-C) levels and also other lipoproteins features. Population studies documented large differences in the frequency of apoE alleles which could be even related to the prevalence of cardiovascular disease. In this study we evaluated the apoE genotypes and allele frequency in 576 subjects living in a small island in the Tyrrhenian Sea and the relative contribution of apoE polymorphism on plasma lipid and lipoprotein profile, including LDL particle size. We found a cumulative frequency of 0.073, 0.866 and 0.061 for ε2, ε3 and ε4 alleles respectively. Moreover ε3 subjects…

National, regional, and global trends in serum total cholesterol since 1980: systematic analysis of health examination surveys and epidemiological studies with 321 country-years and 3·0 million participants

Summary Background Data for trends in serum cholesterol are needed to understand the effects of its dietary, lifestyle, and pharmacological determinants; set intervention priorities; and evaluate national programmes. Previous analyses of trends in serum cholesterol were limited to a few countries, with no consistent and comparable global analysis. We estimated worldwide trends in population mean serum total cholesterol. Methods We estimated trends and their uncertainties in mean serum total cholesterol for adults 25 years and older in 199 countries and territories. We obtained data from published and unpublished health examination surveys and epidemiological studies (321 country-years and 3…

PREVALENCE OF METABOLIC SYNDROME IN A RURAL SICILIAN POPULATION AND RELATIONS WITH CLINICAL EVENTS: THE VENTIMIGLIA HEART PROJECT.

REDUCTION OF CHOLESTEROL WITH NUTRACEUTICAL: RESULTS OF A DOUBLE BLIND STUDY

A large body of evidence has demonstrated that LDL-C reduction by statins decrease cardiovascular risk. Statin treatment may also lead to non-lipid effects which may improve vascular protection, including an amelioration of endothelial function. On the other hand, despite a good tolerability demonstrated by several studies, statin treatment may lead to side effects, in particular when higher dosages are used. Alternative hypolipidemic treatments are nutraceuticals which are a food, or part of a food, that provides medical bene ts. Due to the low ef cacy associated to a high tolerability, patients with mild or moderate risk and/or statin-intolerant subjects are the best target of nutraceutic…

DIFFERENCE IN THE PREVALENCE OF METABOLIC SYNDROME AND CARDIOVASCULAR RISK FACTORS AFTER 14 YEARS IN THE POPULATION OF VENTIMIGLIA DI SICILIA

THE METABOLIC SYNDROME IS A PREDICTOR OF CARDIOVASCULAR EVENTS IN A SICILIAN POPULATION. RESULT OF A 15 YEARS FOLLOW UP

LDL peak particle size and the extension of coronary atherosclerosis in 72 patients that underwent an angiographic exam

PREVALENCE OF PCSK9 VARIANTS IN A COHORT OF SUBJECTS WITH HYPOCHOLESTEROLEMIA

IPERCOLESTEROLEMIA AUTOSOMICA DOMINANTE IN SICILIA

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

PREVALENCE OF CAROTID LESIONS IN A MEDITERRANEAN POPULTION OF HYPERTENSIVES

A novel nonsense mutation in the cept gene in italian Hyperalphalipoproteinemic subjects

Genetic heterogeneity of familial hypercholesterolemia in Sicily

Le Dislipidemie Secondarie

NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS.

MUTATIONS IN THE CETP GENE IN ITALIAN SUBJECTS WITH HYPERALPHALIPOPROTEINEMIA

Soluble CD40L and Cardiovascular Risk in Asymptomatic Low-Grade Carotid Stenosis

Background and Purpose— We investigated whether soluble CD40L (sCD40L) may predict the risk of cardiovascular (CV) events in patients with asymptomatic carotid plaques. Methods— Forty-two patients with asymptomatic low-grade carotid stenosis (ALCS) and 21 controls without any carotid stenosis were enrolled. All subjects had at least a major cardiovascular risk factor (CRF). Plasma levels of C-reactive protein (CRP), IL-6, and sCD40L were measured. Subjects were reviewed every 12 months (median follow-up, 8 years). Results— ALCS patients had higher ( P &lt;0.0001) CRP, IL-6, and sCD40L than controls. Fourteen patients experienced a CV event. Cox regression analysis showed that only high sCD…

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

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

MUTAZIONI DEL GENE DELL’APOB RESPONSABILI DI IPOBETALIPOPROTEINEMIA FAMILIARE IN SICILIA

Statin-induced autoimmune myositis: a proposal of an “experience-based” diagnostic algorithm from the analysis of 69 patients

AbstractStatin-induced autoimmune myositis (SIAM) represents a rare clinical entity that can be triggered by prolonged statin treatment. Its pathogenetic substrate consists of an autoimmune-mediated mechanism, evidenced by the detection of antibodies directed against the 3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR Ab), the target enzyme of statin therapies. To facilitate the diagnosis of nuanced SIAM clinical cases, the present study proposes an “experience-based” diagnostic algorithm for SIAM. We have analyzed the clinical data of 69 patients diagnosed with SIAM. Sixty-seven patients have been collected from the 55 available and complete case records regarding SIAM in the l…

Cystatin C levels are decreased in acute myocardial infarction: Effect of cystatin C G73A gene polymorphism on plasma levels

Background: Cystatin C is the most abundant protease inhibitor in the plasma. Low plasma levels have been found in patients with aortic aneurysms and they seem correlated with the extension of the aortic lesions in early aneurysms detected by ultrasonography. Methods: In this study, plasma levels of cystatin C have been investigated in patients with acute myocardial infarction (AMI), unstable angina and controls. The effect on plasma levels of the G73A polymorphism of the CST3 gene has been also evaluated. Results: Patients with acute myocardial infarction showed significantly lower levels of cystatin C compared to unstable angina and controls, but levels were nearly normal in a week after …

HETEROGENITY OF AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA IN SICILY

Prevenzione globale del rischio cardiovascolare: abitudini di vita e alimentazione

Effects “beyond-cholesterol” of statins: simvastatin reduces the levels of atherogenic lipoproteins in patients with premature coronary artery disease

Le LDL generate in fase post-prandiale dopo carico grasso presentano maggiore densita’, minore size e maggiore affinita’ per il recettore

HYPOALPHALIPOPROTEINEMIA ASSOCIATED TO CORNEAL OPACITIES IN ABSENCE OF LCAT DEFICIENCY.

HYPERTENSION AND DIABETES MELLITUS PREDICT CARDIOVASCULAR EVENTS IN ELDERLY WITHOUT CARDIOVASCULARDISEASE. RESULTS OF FIFTEEN YEARS FOLLOW-UP IN A MEDITERRANEAN POPULATION.

Effects “beyond-cholesterol” by statins: a 3-months therapy with simvastatin reduces the atherogenic lipoproteins in patients with premature coronary artery disease and in absence of the traditional cardiovascular risk factors.

Diabetes, family history and extension of coronary atherosclerosis are strong predictors of adverse events after PTCA: a one year follow-up study. Intenational Angiology. 2004. 23(suppl.1)

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

ASSOCIAZIONE DEL POLIMORFISMO Q192R DEL GENE DELLA PARAOXONASI I (PON1) CON LA MALATTIA CORONARICA IN UN CAMPIONE DI PZ CON INFARTO MIOCARDICO, MALATTIA CORONARICA NON INFARTUALE E SOGGETTI NORMALI.

INTERLEUKIN 6 PLASMA LEVELS PREDICT WITH HIGH SENSITIVITY AND SPECIFICITY CORONARY STENOSIS DETECTED BY CORONARY ANGIOGRAPHY

Diabetes, family hystory and extension of coronary atherosclerosis are strong predictors of adverse events after PTCA: a one year follow-up study

Real-time spatial compound sonography of Achilles tendon in patients with heterozygous familial hypercholesterolaemia and normal physical examination

This study was undertaken to assess the prevalence and ultrasound features of Achilles tendon xanthomas (ATX) in patients with heterozygous familial hypercholesterolemia (HFH) and normal physical examination studied with high-resolution ultrasonography (HRUS) and, secondarily, to evaluate the role of real-time spatial compound sonography (CS) in terms of image quality.Both Achilles tendons of 40 patients with HFH were studied with HRUS and CS. Two experienced radiologists evaluated by consensus the presence of ATX described as (1) tendon thickening and/or (2) focal hypoechoic areas and the quality of images obtained with the two techniques.Ten out of 80 tendons showed thickening (mean: 11.2…

FAMILIAL HYPOALPHALIPOPROTEINEMIA ASSOCIATED TO CORNEAL OPACITIES IN ABSENCE OF LCAT DEFICIENCY

PREVALENCE OF APOB VARIANTS IN A SAMPLE OF SUBJECTS WITH HYPOCHOLESTEROLEMIA

Association of Overweight With Increased Risk of Coronary Heart Disease Partly Independent of Blood Pressure and Cholesterol Levels A Meta-analysis of 21 Cohort Studies Including More Than 300 000 Persons.

Background: The extent to which moderate overweight (body mass index [BMI], 25.0-29.9 [calculated as weight in kilograms divided by height in meters squared]) and obesity (BMI, 30.0) are associated with increased risk of coronary heart disease (CHD) through adverse effects on blood pressure and cholesterol levels is unclear, as is the risk of CHD that remains after these mediating effects are considered. Methods: Relative risks (RRs) of CHD associated with moderate overweight and obesity with and without adjustment for blood pressure and cholesterol concentrations were calculated by the members of a collaboration of prospective cohort studies of healthy, mainly white persons and pooled by m…