0000000000035829

AUTHOR

Averna M

showing 4 related works from this author

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

2017

GeneticsNutrition and DieteticsApob geneEndocrinology Diabetes and MetabolismFamilial HypobetalipoproteinemiaMedicine (miscellaneous)Identification (biology)BiologyCardiology and Cardiovascular MedicineDNA sequencingFrameshift mutationNutrition, Metabolism and Cardiovascular Diseases
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Anti-PCSK9 treatment: Is ultra-low LDL always good?

2018

Anti-pcsk9 (proprotein convertase subtilisin kexin 9) monoclonal antibodies (Mab) are novel, potent lipid-lowering drugs. They demonstrated to improve the lipid profile in high cardiovascular risk patients. Anti-pcsk9 Mab inhibit the targeted LDL-receptor degradation induced by pcsk9 protein and are able to reduce LDL cholesterol (LDL-C) levels on top of conventional lipid-lowering therapy.Though these drugs proved to be very safe in the short term, little is known about the possible long term effects, due to the short period of their marketing. The genetic low-cholesterol syndromes (LCS) represent the natural models of the lipid-lowering anti-PCSK9 therapy, and a valuable opportunity to pr…

Lipid-lowering therapy Alirocumab Evolocumab Bococizumab Low cholesterol syndromes
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Relationship between carotid intima-media thickness and non valvular atrial fibrillation type.

2015

OBJECTIVE: Carotid intima-media thickness (cIMT) is a surrogate marker of subclinical atherosclerosis and it is able to predict both coronary and cerebral vascular events. No data exist on the association between cIMT and non valvular atrial fibrillation (NVAF) type. We conduct this study with the aim to analyze the association between abnormal cIMT and NVAF type. METHODS: A cross-sectional study of the "Atrial fibrillation Registry for Ankle-brachial index Prevalence Assessment-Collaborative Italian Study (ARAPACIS)" has been performed. Among 2027 patients enrolled in the ARAPACIS, 673 patients, who underwent carotid ultrasound examination to assess cIMT, were included in the study. RESULT…

Carotid Artery DiseasesMaleRegistrieSettore MED/09 - Medicina Internagenetic structuresCross-sectional studycarotid intima-media thickness; non valvular atrial fibrillation; ARAPACIScarotid atherosclerosisPredictive Value of TestComorbiditySubclinical atherosclerosiintima-media-thicknessCarotid intima-media thickneRisk FactorsAtrial Fibrillation80 and overPrevalencenonvalvular atrial fibrillation; intima-media-thickness; carotid atherosclerosisRegistriesCarotid intima-media thicknessStrokeAged 80 and overCarotid intima-media thickness; Paroxysmal non valvular atrial fibrillation; Persistent/permanent non valvular atrial fibrillation; Subclinical atherosclerosis; Aged; Aged 80 and over; Ankle Brachial Index; Asymptomatic Diseases; Atrial Fibrillation; Carotid Artery Diseases; Carotid Artery Common; Chi-Square Distribution; Comorbidity; Cross-Sectional Studies; Female; Humans; Italy; Linear Models; Logistic Models; Male; Middle Aged; Predictive Value of Tests; Prevalence; Registries; Risk Factors; Carotid Intima-Media ThicknessMedicine (all)Atrial fibrillationMiddle AgedCommonItalyPredictive value of testsnon valvular atrial fibrillationCardiologycardiovascular systemLinear ModelFemaleCardiology and Cardiovascular MedicineHumanmedicine.medical_specialtyLogistic ModelCarotid Artery CommonPersistent/permanent non valvular atrial fibrillationparoxysmal non valvular atrial fibrillation; persistent/permanent non valvular atrial fibrillation; subclinical atherosclerosis; carotid intima-media thicknessPredictive Value of TestsParoxysmal non valvular atrial fibrillationInternal medicinemedicineHumansAnkle Brachial Indexcardiovascular diseasesSubclinical atherosclerosisCarotid intima-media thickness; Paroxysmal non valvular atrial fibrillation; Persistent/permanent non valvular atrial fibrillation; Subclinical atherosclerosisAgedCross-Sectional StudieAsymptomatic DiseaseCarotid Artery DiseaseChi-Square Distributionbusiness.industrySurrogate endpointRisk Factornonvalvular atrial fibrillationmedicine.diseaseSettore MED/11 - Malattie Dell'Apparato CardiovascolareComorbidityParoxysmal Non Valvular Atrial Fibrillation Persistent/Permanent Non Valvular Atrial Fibrillation Subclinical Atherosclerosis Carotid Intima-Media ThicknessCross-Sectional StudiesLogistic ModelsIntima-media thicknessAsymptomatic DiseasesLinear ModelsARAPACISCarotid ArterybusinessChi-squared distribution
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Comparison of two polygenic risk score to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjec…

2022

Background: Primary Hypobetalipoproteinemias (HBL) are a group of dominant and recessive monogenic genetic disorders caused by mutations in APOB, PCSK9, ANGPTL3, MTTP, Sar1b genes and characterized by plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in a given population. Mutations in the candidate genes account only for a small proportion of subjects with HBL suggesting a role for a polygenic contribution to the low cholesterol phenotype. Objective: To explore the complex genetic architecture of HBL we compared two polygenic risk scores in order to assess the role of the polygenic b…

Polygenic risk scoreMutationHypobetalipoproteinemia
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