Search results for "cholesterol"

showing 10 items of 1211 documents

Lipid and apoprotein composition of HDL in partial or complete CETP deficiency

2012

Hyperalphalipoproteinemia, as observed in patients who are either homozygous or heterozygous for cholesteryl ester transfer protein (CETP) deficiency, has been shown to be associated with striking changes in apolipoprotein size distribution, namely, of high-density lipoprotein (HDL) and HDL-like particles. We compared the effect of varying degrees of CETP activity on the HDL apolipoprotein profile in Caucasian CETP-deficient subjects and following pharmacological decrease in CETP activity, using Size Exclusion Chromatography followed by Reverse Phase Protein Array (SEC RPA). The main HDL-associated apolipoproteins (Apo), i.e. ApoA-I, ApoA-II, ApoC-I, and ApoC-III, co-eluted with the HDL pea…

Settore MED/09 - Medicina InternaApolipoprotein BCholesterol Ester Transfer Proteinmedicine.disease_causereverse phase protein arraychemistry.chemical_compoundExonMutationbiologyHomozygotescavenger receptor class B1size exclusion chromatographyLipidCholesteryl ester transfer proteinLipidstorcetrapibApolipoproteinBiochemistryELISAlipids (amino acids peptides and proteins)hyperalphalipoproteinemiaCardiology and Cardiovascular MedicineLipoproteins HDLHumandalcetrapibmedicine.medical_specialtyHeterozygoteDalcetrapibHypercholesterolemiaapolipoproteinhigh-density lipoproteinInternal medicineCholesterylester transfer proteinmedicineAnimalsHumansCholesteryl ester transfer protein; dalcetrapib; high-density lipoprotein; reverse phase protein array; scavenger receptor class B1; size exclusion chromatography; torcetrapib; apolipoprotein; hyperalphalipoproteinemia; ELISAPharmacologybusiness.industryAnimalPoint mutationCholesterol HDLTorcetrapibnutritional and metabolic diseasesLipid MetabolismCholesterol Ester Transfer Proteinscarbohydrates (lipids)Disease Models AnimalEndocrinologyApolipoproteinschemistrybiology.proteinbusinessLipoprotein
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Impact of atorvastatin plus n-3 PUFA on metabolic, inflammatory and coagulative parameters in metabolic syndrome without and with type 2 diabetes mel…

2009

Settore MED/09 - Medicina InternaAtorvastatin plus n-3 PUFA Atorvastatin triglycerides low-density lipoprotein cholesterol C-reactive protein
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eNOS Activation by HDL Is Impaired in Genetic CETP Deficiency.

2014

Mutations in the CETP gene resulting in defective CETP activity have been shown to cause remarkable elevations of plasma HDL-C levels, with the accumulation in plasma of large, buoyant HDL particles enriched in apolipoprotein E. Genetic CETP deficiency thus represents a unique tool to evaluate how structural alterations of HDL impact on HDL atheroprotective functions. Aim of the present study was to assess the ability of HDL obtained from CETP-deficient subjects to protect endothelial cells from the development of endothelial dysfunction. HDL isolated from one homozygous and seven heterozygous carriers of CETP null mutations were evaluated for their ability to down-regulate cytokine-induced…

Settore MED/09 - Medicina InternaCHOLESTEROL EFFLUXApolipoprotein BEpidemiologylcsh:MedicineANTIINFLAMMATORY PROPERTIESmedicine.disease_causeBiochemistryVascular Medicinechemistry.chemical_compoundHigh-density lipoproteinEnosMedicine and Health SciencesEndothelial dysfunctionlcsh:ScienceMutationMultidisciplinarybiologyHomozygoteCETP; eNOS; HDL;NeurochemistryLipidsGenetic EpidemiologyeNOSlipids (amino acids peptides and proteins)AnatomyNeurochemicalsLipoproteins HDLResearch Articlemedicine.medical_specialtyDrug Research and DevelopmentHDLNitric Oxide Synthase Type IIILipoproteinsENDOTHELIAL FUNCTIONINHIBITIONCardiologyDown-RegulationVascular Cell Adhesion Molecule-1Nitric OxideCELL-ADHESION MOLECULE-1Lipid Metabolism Inborn ErrorsESTER TRANSFER PROTEINInternal medicineCETPCholesterylester transfer proteinHuman Umbilical Vein Endothelial CellsmedicineHumansNITRIC-OXIDE SYNTHASEInflammationClinical GeneticsPharmacologyCholesterollcsh:RTorcetrapibEndothelial CellsBiology and Life SciencesProteinsnutritional and metabolic diseasesLipid MetabolismAtherosclerosismedicine.diseasebiology.organism_classificationCholesterol Ester Transfer Proteinscarbohydrates (lipids)MetabolismEndocrinologychemistryOther Clinical MedicineMutationImmunologyCardiovascular Anatomybiology.proteinlcsh:QTORCETRAPIBClinical MedicineHIGH-DENSITY-LIPOPROTEINSCAVENGER RECEPTOR BI
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IL GENE PCSK9: UN NUOVO GENE IMPLICATO NEL CONTROLLO DELLA COLESTEROLEMIA

2007

The distribution of cholesterol plasma is regulated by complex interactions between genes and environmental factors. Mutations of PCSK9 gene seem to modulate the levels of LDL-C. Mutations of PCSK9 gene with gain of function are associated to hypercholesterolemia and mutations with loss of function determine hypocholesterolemia.

Settore MED/09 - Medicina InternaCholesterolemia
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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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New Frontiers in the Treatment of Homozygous Familial Hypercholesterolemia.

2021

: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder. The most common cause is a mutation in both alleles of the gene encoding for the low-density lipoprotein (LDL) receptor, although other causative mutations have been identified. Complications of atherosclerotic cardiovascular disease are common in these patients; therefore, reducing the elevated LDL-cholesterol burden is critical in their management. Conventionally, this is achieved by patients initiating lipid-lowering therapy, but this can present challenges in clinical practice. Fortunately, novel therapeutic strategies have enabled promising innovations in HoFH treatment. This review highlights recent and ongo…

Settore MED/09 - Medicina InternaGenetic enhancementHomozygous familial hypercholesterolemiaFamilial hypercholesterolemiaInclisiranBioinformaticsmedicine.disease_causeBenzimidazolePCSK9Hyperlipoproteinemia Type IIchemistry.chemical_compoundGene therapyAnticholesteremic AgentmedicineAngiopoietin-like 3HumansLow-density lipoprotein cholesterolAlleleAngiopoietin-like 3; Gene therapy; Gene-editing; Homozygous familial hypercholesterolemia; Inclisiran; Lomitapide; Low-density lipoprotein cholesterol; PCSK9MutationGene-editingAtherosclerotic cardiovascular diseasebusiness.industryPCSK9Anticholesteremic AgentsHomozygoteGenetic disorderGeneral MedicineCholesterol LDLmedicine.diseaseLomitapideLomitapidechemistrylipids (amino acids peptides and proteins)BenzimidazolesCardiology and Cardiovascular MedicinebusinessHumanHeart failure clinics
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DETECTION OF NEW GENES RESPONSIBLE OF FAMILIAL RECESSIVE HYPERCHOLESTEROLEMIA: PRELIMINARY DATA FROM AN EXOME SEQUENCING APPROACH

2014

Settore MED/09 - Medicina InternaHypercholesterolemia Exome sequencing
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LINEE GUIDA CLINICHE PER LA PREVENZIONE DELLA CARDIOPATIA ISCHEMICA NELLA IPERCOLESTEROLEMIA FAMILIARE Una patologia sotto-diagnosticata e sotto-trat…

2013

AIMS. Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD) due to lifelong elevated plasma low-density lipoprotein (LDL) cholesterol levels. This paper aims to describe the problem of FH underdiagnosis and undertreatment and to promote CHD prevention providing recommendations for the screening and treatment of patients with FH. Methods and results. In many countries, less then 1% of FH patients are diagnosed, although the estimated prevalence of this condition is about 1/500 for heterozygous FH and the results of FH screening in a general population of Northern Europe suggest a prevalence of 1/200. Studies on FH patients agree on a widespre…

Settore MED/09 - Medicina InternaHypercholesterolemia FH diagnosis ischemic heart disease cardiovascular prevention
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Analysis of sterols by high-performance liquid chromatography/mass spectrometry combined with chemometrics

2006

A newly developed high-performance liquid chromatography/mass spectrometry (HPLC/MS) method has been successfully used to analyze plasma concentrations of various phytosterols (cholestanol and beta-sitosterol) and cholesterol metabolites (desmosterol and lathosterol). This was based on an unusual solvent combination of water/methanol vs. methanol/acetone/n-hexane applied on a Purospher Star RP-18e (125 x 2 mm, 3 microm) column, which proved excellent for the separation, identification and quantification of plasma sterols. Simple solid-phase extraction preparation of plasma samples was performed, followed by the developed fast and robust HPLC separation. Results on four groups of people were…

Settore MED/09 - Medicina InternaHypercholesterolemiaPilot ProjectsLathosterolMass spectrometryHigh-performance liquid chromatographyMass SpectrometryAnalytical ChemistryChemometricschemistry.chemical_compoundDesmosterolHumansHPLC/MS analysiChromatography High Pressure LiquidSpectroscopyChromatographyCholesterolCholestanolDesmosterolOrganic ChemistryExtraction (chemistry)cholesterol metaboliteDiscriminant AnalysisSitosterolsCholestanolSterolsCholesterolchemistrylipids (amino acids peptides and proteins)HPLCHydroxymethylglutaryl-CoA Reductase InhibitorsRapid Communications in Mass Spectrometry
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A novel therapeutic strategy to cure the Homozygous Familial Hypercholesterolemia with residual LDL receptor activity

2020

Settore MED/09 - Medicina InternaLDLR Homozygous Familial Hypercholesterolemia PCSK9 IDOL
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