0000000000004260

AUTHOR

Angela Pirillo

0000-0002-2948-6257

showing 4 related works from this author

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

2017

Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major…

0301 basic medicineApolipoprotein ECandidate geneSettore MED/09 - Medicina InternaDatabases FactualApolipoprotein BDNA Mutational AnalysisFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityPCSK90302 clinical medicineRisk FactorsReceptorsGeneticsHomozygoteAutosomal dominant traitPathogenic variantsGeneral MedicinePrognosisAPOB; Familial hypercholesterolemia; LDLR; PCSK9; Pathogenic variantsCholesterolPhenotypeItalyAutosomal Recessive HypercholesterolemiaApolipoprotein B-100lipids (amino acids peptides and proteins)Proprotein Convertase 9APOBCardiology and Cardiovascular MedicinePreliminary DataGenetic MarkersFamilial hypercholesterolemiaLDLRPCSK9APOBPathogenic variantsHeterozygoteFamilial hypercholesterolemiaBiologyPathogenic variantLDLHyperlipoproteinemia Type II03 medical and health sciencesDatabasesmedicineInternal MedicineHumansAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Internal Medicine; Cardiology and Cardiovascular MedicineGenetic Predisposition to DiseaseFactualPCSK9Settore MED/13 - ENDOCRINOLOGIAAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Cardiology and Cardiovascular Medicine; Internal Medicinemedicine.diseaseAtherosclerosis030104 developmental biologyLDLRReceptors LDLMutationbiology.proteinAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Apolipoprotein B-100; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Preliminary Data; Prognosis; Proprotein Convertase 9; Receptors LDL; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine
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Genetically determined hypercholesterolaemia results into premature leucocyte telomere length shortening and reduced haematopoietic precursors

2020

Abstract Aims Leucocyte telomere length (LTL) shortening is a marker of cellular senescence and associates with increased risk of cardiovascular disease (CVD). A number of cardiovascular risk factors affect LTL, but the correlation between elevated LDL cholesterol (LDL-C) and shorter LTL is debated: in small cohorts including subjects with a clinical diagnosis of familial hypercholesterolaemia (FH). We assessed the relationship between LDL-C and LTL in subjects with genetic familial hypercholesterolaemia (HeFH) compared to those with clinically diagnosed, but not genetically confirmed FH (CD-FH), and normocholesterolaemic subjects. Methods and results LTL was measured in mononuclear cells-d…

medicine.medical_specialtySettore MED/09 - Medicina InternaCellular ageingEpidemiologyHypercholesterolemiaCD34Cellular senescence030204 cardiovascular system & hematologyHyperlipoproteinemia Type II03 medical and health sciencesMice0302 clinical medicineInternal medicineLeukocytesMedicineAnimalsHumansProgenitor cellHaematopoiesi030304 developmental biologyLdl cholesterol0303 health sciencesbusiness.industryCholesterol LDLTelomere3. Good healthTelomereHaematopoiesisIncreased riskEndocrinologymedicine.anatomical_structureCHDTelomeresBone marrowCardiology and Cardiovascular MedicinebusinessFamilial hypercholesterolaemia
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Lipid-lowering therapy and low-density lipoprotein cholesterol goal achievement in patients with acute coronary syndromes: The ACS patient pathway pr…

2020

Background and aims: Post-acute coronary syndrome (ACS) patients are at very high risk for recurrent events and mortality, despite the availability of effective pharmacological approaches. Aim of this survey was to evaluate the compliance to ESC/EAS guidelines during the management of ACS patients and the effectiveness of secondary prevention in seven European countries.Methods: By means of an online questionnaire, data on 2775 ACS patients (either acute case or follow-up patients) were collected, including data on lipid profile, medications, follow-up visit planning, screening for familial hypercholesterolemia.Results: Lipid profiles were obtained for 91% of ACS patients in the acute phase…

MaleAcute coronary syndromemedicine.medical_specialtyLow density lipoprotein cholesterolFamilial hypercholesterolemia030204 cardiovascular system & hematologyGuidelinesPatient pathwayLipid-lowering therapy03 medical and health sciences0302 clinical medicineInternal medicineInternal MedicinemedicineGoal achievementHumansIn patientLow-density lipoprotein cholesterol030212 general & internal medicineAgedmedicine.diagnostic_testbusiness.industryAnticholesteremic AgentsStatinsDisease ManagementGeneral MedicineCholesterol LDLLipid-lowering therapiesmedicine.diseaseFemaleAcute coronary syndromeHydroxymethylglutaryl-CoA Reductase InhibitorsCardiology and Cardiovascular MedicineLipid profilebusinessGoals
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The role of red yeast rice (RYR) supplementation in plasma cholesterol control: A review and expert opinion.

2019

1. Preamble : Hypercholesterolemia is a major risk factor for atherosclerotic cardiovascular disease (ASCVD) [1]. Increased levels of low density lipoprotein cholesterol (LDL-C) are associated with an increased risk of coronary heart disease (CHD) and many clinical trials have shown that reducing LDL-C levels significantly reduced the CHD and CVD risk [[2], [3], [4], [5]]. Thus LDL-C-lowering is the main approach for the management of cardiovascular disease. Current guidelines suggest LDL-C levels targets based on the individual CV risk; such targets can be achieved by several means, which include both lifestyle changes and pharmacological approaches [6], with statins being the cornerstone …

Gastrointestinal Diseases[SDV]Life Sciences [q-bio]Hypercholesterolemia/Self Medication030204 cardiovascular system & hematologyPharmacology03 medical and health sciencesFood-Drug Interactions0302 clinical medicinePlasma cholesterolBiotransformationDouble-Blind MethodChinese traditionalInternal MedicineRed yeast riceMedicineCytochrome P-450 CYP3AHumansMulticenter Studies as TopicProdrugs030212 general & internal medicineLovastatinMusculoskeletal DiseasesMedicine Chinese TraditionalExpert TestimonyComputingMilieux_MISCELLANEOUSBiotransformationRandomized Controlled Trials as TopicBiological ProductsClinical Trials as TopicMolecular StructureRyanodine receptorbusiness.industryGeneral Medicine3. Good healthCholesterol blood[SDV] Life Sciences [q-bio]CholesterolCardiovascular DiseasesExpert opinionDietary Supplementslipids (amino acids peptides and proteins)Hydroxymethylglutaryl-CoA Reductase InhibitorsCardiology and Cardiovascular Medicinebusiness
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