0000000000217997

AUTHOR

M. Averna

showing 10 related works from this author

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

2014

Item does not contain fulltext Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a mono…

Multifactorial InheritanceSettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismVascular damage Radboud Institute for Health Sciences [Radboudumc 16]Genome-wide association studyDisease030204 cardiovascular system & hematologyISCHEMIC-HEART-DISEASEBioinformaticshypertriglyceridaemia0302 clinical medicineEndocrinologyGENERAL-POPULATIONHypertriglyceridemiatreatmentmedicine.diagnostic_testREMNANT CHOLESTEROLCombined Modality Therapy3. Good healthLIPASE DEFICIENCYdiagnosiPLASMA TRIGLYCERIDESDENSITY-LIPOPROTEIN CHOLESTEROLCARDIOVASCULAR-DISEASEPractice Guidelines as TopicBiomarker (medicine)Multifactorial Inheritancemedicine.medical_specialty030209 endocrinology & metabolismHealth PromotionArticle03 medical and health sciencesPharmacotherapyInternal medicineInternal MedicinemedicineAnimalsHumansHOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIAGenetic Predisposition to DiseaseAlleleGENOME-WIDE ASSOCIATIONLife Stylehypertriglyceridaemia; diagnosis; treatmentTriglyceridesGenetic testingbusiness.industryHypertriglyceridemianutritional and metabolic diseasesmedicine.diseaseEndocrinologyNONFASTING TRIGLYCERIDESbusinessBiomarkersThe lancet. Diabetesendocrinology
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Carotid plaque detection improves the predictve value of CHA2DS2-VASc score in patients with non-valvular atrial fibrilation: The ARAPACIS Study

2017

Abstract Background and aims Vascular disease (VD), as assessed by history of myocardial infarction or peripheral artery disease or aortic plaque, increases stroke risk in atrial fibrillation (AF), and is a component of risk assessment using the CHA 2 DS 2 -VASc score. We investigated if systemic atherosclerosis as detected by ultrasound carotid plaque (CP) could improve the predictive value of the CHA 2 DS 2 -VASc score. Methods We analysed data from the ARAPACIS study, an observational study including 2027 Italian patients with non-valvular AF, in whom CP was detected using Doppler Ultrasonography. Results VD was reported in 351 (17.3%) patients while CP was detected in 16.6% patients. Ad…

Atherosclerosis Atrial fibrillation Carotid plaque CHA2DS2-VASc score Stroke Vascular diseaseCarotid Artery DiseasesMaleAtherosclerosis; Atrial fibrillation; Carotid plaque; CHA2DS2-VASc score; Stroke; Vascular disease; Aged; Aged 80 and over; Ankle Brachial Index; Atrial Fibrillation; Carotid Artery Diseases; Female; Humans; Incidence; Italy; Male; Plaque Atherosclerotic; Retrospective Studies; Risk Factors; Survival Rate; Ultrasonography Doppler; Risk Assessment; Cardiology and Cardiovascular Medicine030204 cardiovascular system & hematologyatrialf fibrillation0302 clinical medicineRetrospective StudieRisk FactorsCarotid artery diseaseAtherosclerosis; Atrial fibrillation; Carotid plaque; CHA; 2; DS; 2; -VASc score; Stroke; Vascular disease; Aged; Aged 80 and over; Ankle Brachial Index; Atrial Fibrillation; Carotid Artery Diseases; Female; Humans; Incidence; Italy; Male; Plaque Atherosclerotic; Retrospective Studies; Risk Factors; Survival Rate; Ultrasonography Doppler; Risk AssessmentAtrial Fibrillation80 and over030212 general & internal medicineMyocardial infarctionStrokeDSAtherosclerosis; Atrial fibrillation; CHA(2)DS(2)-VASc score; Carotid plaque; Stroke; Vascular disease; Aged; Aged 80 and over; Ankle Brachial Index; Atrial Fibrillation; Carotid Artery Diseases; Female; Humans; Incidence; Italy; Male; Plaque Atherosclerotic; Retrospective Studies; Risk Factors; Survival Rate; Ultrasonography Doppler; Risk AssessmentCHA 2 DS 2 -VASc scorePlaqueAtheroscleroticUltrasonographyAged 80 and overIncidenceDopplerAtrial fibrillationCarotid plaquePlaque AtheroscleroticStrokeSurvival RateItalyAtherosclerosiCHA(2)DS(2)-VASc scoreCardiologyartherosclerosis; atrial fibrillation; carotid plaque; CHA2DS2-VASc score; stroke; vascular disease; aged; aged 80 and over; ankle brachial index; atrialf fibrillation; carotid artery diseases; female; humans; incidence; italy; male; plaque atherosclerotic; retrospective studies; risk factors; survival rate; ultrasonography doppler; risk assessment; cardiology and cardiovascular medicineFemaleSettore SECS-S/01 - StatisticaCardiology and Cardiovascular MedicineHumanmedicine.medical_specialtyCHA2DS2-VASc score2Atherosclerosis; Atrial fibrillation; Carotid plaque; CHA 2 DS 2 -VASc score ; Stroke; Vascular disease; Aged; Aged 80 and over; Ankle Brachial Index; Atrial Fibrillation; Carotid Artery Diseases; Female; Humans; Incidence; Italy; Male; Plaque Atherosclerotic; Retrospective Studies; Risk Factors; Survival Rate; Ultrasonography Doppler; Risk Assessment; Cardiology and Cardiovascular MedicineSocio-culturaleVascular diseaseRisk Assessment-VASc score03 medical and health sciencesInternal medicinemedicineHumansAnkle Brachial Indexcardiovascular diseasesRisk factorSurvival rateAgedRetrospective StudiesCarotid Artery DiseaseVascular diseasebusiness.industryRisk FactorUltrasonography Dopplermedicine.diseaseAtherosclerosisartherosclerosisCHA2DS2–VASc scoreCHAAtherosclerosis; Atrial fibrillation; Carotid plaque; CHA; 2; DS; 2; -VASc score; Stroke; Vascular diseasebusiness
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Efficacy and Safety of Alirocumab in Reducing Lipids and Cardiovascular Events

2015

BACKGROUND: Alirocumab, a monoclonal antibody that inhibits proprotein convertase subtilisin-kexin type 9 (PCSK9), has been shown to reduce low-density lipoprotein (LDL) cholesterol levels in patients who are receiving statin therapy. Larger and longer-term studies are needed to establish safety and efficacy.METHODS: We conducted a randomized trial involving 2341 patients at high risk for cardiovascular events who had LDL cholesterol levels of 70 mg per deciliter (1.8 mmol per liter) or more and were receiving treatment with statins at the maximum tolerated dose (the highest dose associated with an acceptable side-effect profile), with or without other lipid-lowering therapy. Patients were …

Malemedicine.medical_specialtySettore MED/09 - Medicina InternaIntention to Treat AnalysiHypercholesterolemiaUrologyalirocumabBococizumabPharmacologyPlaceboAged; Antibodies Monoclonal; Anticholesteremic Agents; Cardiovascular Diseases; Cholesterol LDL; Double-Blind Method; Drug Therapy Combination; Female; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hypercholesterolemia; Intention to Treat Analysis; Male; Middle Aged; Medicine (all)law.inventionchemistry.chemical_compoundcardiovascular eventsDouble-Blind MethodRandomized controlled triallawCardiovascular DiseaseAnticholesteremic AgentMedicineproprotein convertase subtilisin–kexin type 9 (PCSK9)High Cardiovascular Risk PatientsAgedAlirocumabalirocumab; cholesterol; cardiovascular eventsCholesterolbusiness.industryMedicine (all)PCSK9Antibodies MonoclonalcholesterolCholesterol LDLGeneral MedicineMiddle AgedLomitapideEvolocumabchemistrylow-density lipoprotein (LDL) cholesterol[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieDrug Therapy CombinationFemalelipids (amino acids peptides and proteins)Hydroxymethylglutaryl-CoA Reductase Inhibitorbusiness[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyHumanNew England journal of medicine
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Appropriateness criteria for the management of lipid-lowering therapy with alirocumab in high cardiovascular risk patients. The opinion of a multidis…

2020

High levels of LDL cholesterol (LDL-C) represent a causal factor for cardiovascular diseases on an atherosclerotic basis, with a direct correlation between these and mortality or cardiovascular events, such that the reduction of both is associated proportionally and linearly with the reduction of LDL-C.Statins and ezetimibe are used for LDL-C lowering but may not be sufficient to achieve the targets defined by the ESC/EAS guidelines, which recommend use of PCSK9 inhibitors for further LDL-C reduction in patients not at goal.This project submitted 86 clinical scenarios to a group of experts, cardiologists, internists and lipidologists, collecting their opinion on the appropriateness of diffe…

Settore MED/09 - Medicina InternaConsensusPCSK9 inhibitorFamilial hypercholesterolemiaHypercholesterolemiaAntibodies Monoclonal Humanized; Anticholesteremic Agents; Atherosclerosis; Cholesterol LDL; Consensus; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hypercholesterolemia; Italy; Risk Assessment; Risk Factors; Cardiovascular DiseasesConsensuAntibodies Monoclonal HumanizedRisk AssessmentAntibodiesLDLAcute coronary syndrome; Alirocumab; Cardiovascular risk; Familial hypercholesterolemia; PCSK9 inhibitors; Antibodies Monoclonal Humanized; Anticholesteremic Agents; Atherosclerosis; Cholesterol LDL; Consensus; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hypercholesterolemia; Italy; Risk Assessment; Risk Factors; Cardiovascular DiseasesRisk FactorsAnticholesteremic AgentMonoclonalHumansHumanizedAnticholesteremic AgentsCholesterol LDLCardiovascular riskAtherosclerosisCholesterolItalyPCSK9 inhibitorsCardiovascular DiseasesAtherosclerosiAcute coronary syndromeHydroxymethylglutaryl-CoA Reductase InhibitorsAlirocumab
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Colesterolo e rischio cardiovascolare: Percorso diagnostico-terapeutico in Italia

2016

Atherosclerotic cardiovascular disease still represents the leading cause of death in western countries. A wealth of scientific evidence demonstrates that increased blood cholesterol levels have a major impact on the outbreak and progression of atherosclerotic plaques. Moreover, several cholesterol-lowering pharmacological agents, including statins and ezetimibe, have proven effective in improving clinical outcomes. This document is focused on the clinical management of hypercholesterolemia and has been conceived by 16 Italian medical associations with the support of the Italian National Institute of Health. The authors have considered with particular attention the role of hypercholesterole…

Settore MED/09 - Medicina InternaPCSK9 inhibitorAtherosclerosiHypercholesterolemiaDiagnostic and therapeutic pathwayStatinSustainable healthcareCardiology and Cardiovascular Medicine
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Major adverse cardiovascular events in non-valvular atrial fibrillation with chronic obstructive pulmonary disease: the ARAPACIS study

2018

Chronic obstructive pulmonary disease (COPD) increases the risk of mortality in non-valvular atrial fibrillation (NVAF) patients. Data on the relationship of COPD to major cardiovascular events (MACE) in AF have not been defined. The aim of the study is to assess the predictive value of COPD on incident MACE in NVAF patients over a 3-year follow-up. In the Atrial Fibrillation Registry for Ankle-Brachial Index Prevalence Assessment-Collaborative Italian Study (ARAPACIS) cohort, we evaluate the impact of COPD on the following clinical endpoints: MACE (including vascular death, fatal/non-fatal MI and stroke/TIA), cardiovascular (CV) death and all-cause mortality. Among 2027 NVAF patients, pati…

MaleSettore MED/09 - Medicina Interna030204 cardiovascular system & hematologyPulmonary Disease Chronic Obstructive0302 clinical medicineRisk FactorsMajor cardiovascular eventCause of DeathRisk of mortalityPrevalenceMedicine030212 general & internal medicineProspective StudiesRegistriesProspective cohort studyStrokeCause of deathCOPDChronic obstructive pulmonary diseaseIncidenceHazard ratioAtrial fibrillation; Cardiovascular mortality; Chronic obstructive pulmonary disease; Major cardiovascular events; Aged; Atrial Fibrillation; Cardiovascular Diseases; Cause of Death; Endpoint Determination; Female; Follow-Up Studies; Humans; Incidence; Italy; Male; Predictive Value of Tests; Prevalence; Prospective Studies; Pulmonary Disease Chronic Obstructive; Registries; Risk Factors; Internal Medicine; Emergency MedicineAtrial fibrillationAtrial fibrillation Cardiovascular mortality Chronic obstructive pulmonary disease Major cardiovascular eventsItalyCardiovascular DiseasesCardiologyEmergency MedicineFemaleSettore SECS-S/01 - Statisticamedicine.medical_specialtyChronic ObstructiveCardiovascular mortalityEndpoint DeterminationAtrial fibrillation; Cardiovascular mortality; Chronic obstructive pulmonary disease; Major cardiovascular events; Aged; Atrial Fibrillation; Cardiovascular Diseases; Cause of Death; Endpoint Determination; Female; Follow-Up Studies; Humans; Incidence; Italy; Male; Predictive Value of Tests; Prevalence; Prospective Studies; Pulmonary Disease Chronic Obstructive; Registries; Risk FactorsSocio-culturalePulmonary Disease03 medical and health sciencesPredictive Value of TestsInternal medicineInternal MedicineHumanscardiovascular diseasesAtrial fibrillation; Cardiovascular mortality; Chronic obstructive pulmonary disease; Major cardiovascular eventsAgedbusiness.industryMajor cardiovascular eventsmedicine.diseaseAtrial fibrillationAtrial fibrillation; Cardiovascular mortality; Chronic obstructive pulmonary disease; Major cardiovascular events; Internal Medicine; Emergency MedicinebusinessMaceFollow-Up Studies
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Nuove linee guida americane 2013 ACC/AHA sul trattamento del colesterolo plasmatico per ridurre il rischio cardiovascolare aterosclerotico: confronto…

2014

No abstract available

dislipidemie rischio cardiovascolare linee guida americane 2013 ACC/AHA raccomandazioni ESC/EASSettore MED/11 - Malattie Dell'Apparato Cardiovascolare
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Reported muscle symptoms during statin treatment amongst Italian dyslipidaemic patients in the real‐life setting: the PROSISA Study

2021

Aim: Statin-associated muscle symptoms (SAMS) are a major determinant of poor treatment adherence and/or discontinuation, but a definitive diagnosis of SAMS is challenging. The PROSISA study was an observational retrospective study aimed to assess the prevalence of reported SAMS in a cohort of dyslipidaemic patients. Methods: Demographic/anamnestic data, biochemical values and occurrence of SAMS were collected by 23 Italian Lipid Clinics. Adjusted logistic regression was performed to estimate odds ratio (OR) and 95% confidence intervals for association between probability of reporting SAMS and several factors. Results: Analyses were carried out on 16 717 statin-treated patients (mean ± SD, …

0301 basic medicineMalemedicine.medical_specialtySettore MED/09 - Medicina Internaadverse effects; myopathy; statin-associated muscle symptoms; statinsstatin-associated muscle symptomsadverse effects; myopathy; statin-associated muscle symptoms; statins.030204 cardiovascular system & hematologystatinsMedication Adherence03 medical and health sciences0302 clinical medicineMuscular DiseasesInternal medicineadverse effectInternal MedicinemedicinePrevalencestatins.Humansstatin‐associated muscle symptomsAdverse effectDechallengeadverse effects; myopathy; statin-associated muscle symptoms; statins; Creatine Kinase; Dyslipidemias; Female; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Italy; Male; Medication Adherence; Middle Aged; Muscular Diseases; Prevalence; Retrospective StudiesCreatine KinaseDyslipidemiasRetrospective Studiesbusiness.industryRetrospective cohort studyOdds ratioOriginal ArticlesMiddle AgedConfidence intervalDiscontinuation030104 developmental biologyItalyConcomitantCohortadverse effectsOriginal ArticleFemaleHydroxymethylglutaryl-CoA Reductase Inhibitorsbusinessstatin-associated muscle symptommyopathyJournal of Internal Medicine
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Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial…

2022

: Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) wer…

MaleAdultMultifactorial InheritanceSettore MED/09 - Medicina Internafamilial hypercholesterolemia; molecular diagnosis; polygenic risk score; Adult; Cholesterol LDL; Female; Humans; Middle Aged; Multifactorial Inheritance; Mutation; Gene Regulatory Networks; Hyperlipoproteinemia Type IIfamilial hypercholesterolemiaCholesterol LDLMiddle AgedLDLHyperlipoproteinemia Type IICholesterolmolecular diagnosispolygenic risk scoreMutationHumansFemaleGene Regulatory Networksmolecular diagnosifamilial hypercholesterolemia; molecular diagnosis; polygenic risk score
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Familial hypercholesterolæmia in children and adolescents: Gaining decades of life by optimizing detection and treatment

2015

Contains fulltext : 155263.pdf (Publisher’s version ) (Open Access) Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness of the need for early detection and management of FH children. Familial hypercholesterolaemia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis, or positive genetic testin…

CounselingEuropean Atherosclerosis Society Consensus PanelPediatricsCardiac & Cardiovascular SystemsSTATIN THERAPYSettore MED/09 - Medicina InternaVascular damage Radboud Institute for Health Sciences [Radboudumc 16]Familial hypercholesterolemiaAdolescentsCarotid Intima-Media ThicknessINTIMA-MEDIA THICKNESSCost of IllnessPregnancyRisk FactorsDiagnosisYOUNG-ADULTSHIPERCOLESTEROLEMIA (DIAGNÓSTICO;TERAPIA;TENDÊNCIAS)Family historyYoung adultChildChildrenEvidence-Based Medicinemedicine.diagnostic_testHomozygoteMiddle AgedFamilial hypercholesterolæmia3. Good healthEconomics MedicalAdolescents; Children; Consensus statement; Diagnosis; Ezetimibe; Familial hypercholesterolæmia; LDL cholesterol; PCSK9 inhibitor; Statin; Treatment; Cardiology and Cardiovascular MedicineCARDIOVASCULAR-DISEASEConsensus statementLDL cholesterolFemalelipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicineFamilial hypercholesterolaemiaLife Sciences & BiomedicineDiagnosimedicine.drugAdultHeterozygotemedicine.medical_specialtyStatinAdolescentmedicine.drug_classPCSK9 inhibitorENDOTHELIAL FUNCTIONLOW-DENSITY-LIPOPROTEINReviewsCOST-EFFECTIVENESS ANALYSIS1102 Cardiovascular Medicine And HaematologyMedication AdherenceHyperlipoproteinemia Type IIYoung AdultLife ExpectancyEzetimibemedicineHumansCORONARY-HEART-DISEASEGenetic TestingGenetic testingPregnancyScience & TechnologyClinical Laboratory Techniquesbusiness.industryPreventionStatinAtherosclerosismedicine.diseaseEzetimibeDietASSOCIATION EXPERT PANELBLOOD-PRESSURE RESEARCHPregnancy ComplicationsTreatmentEarly DiagnosisIntima-media thicknessCardiovascular System & HematologyDietary SupplementsPhysical therapyCardiovascular System & Cardiologybusiness
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