Search results for "hypercholesterolemia"

showing 10 items of 245 documents

Pharmacological Interventions on Asymmetric Dimethylarginine, a Clinical Marker of Vascular Disease

2011

The aim of this paper is to review the latest data on the pharmacological modulation of asymmetric dimethylarginine in human disease. When the terminal nitrogens of the guanidine portion of an arginine become methylated through the action of N-methyl transferases, two chemically close, but physiologically different amino acids are synthesized: symmetric and asymmetric dimethylarginine. The vascular origin of asymmetric dimethylarginine and its inhibitory activity on endothelial nitric oxide synthase give it an important role in certain diseases in which microcirculation is compromised: hypertension, atherosclerosis, inflammatory bowel disease, and diabetes. This review discusses the role th…

Adrenergic Antagonistsmedicine.medical_specialtyAngiotensinsNitric Oxide Synthase Type IIIArginineHypercholesterolemiaPeroxisome Proliferator-Activated ReceptorsHyperhomocysteinemiaReceptors Cytoplasmic and NuclearPeroxisome proliferator-activated receptorPharmacologyArginineBiochemistryNitric oxideDiabetes Complicationschemistry.chemical_compoundInternal medicineDrug DiscoveryAdrenergic antagonistmedicineHumansVascular DiseasesPharmacologychemistry.chemical_classificationVascular diseaseMicrocirculationOrganic Chemistrymedicine.diseaseAngiotensin IIEndocrinologychemistryHypertensionMolecular MedicineKidney DiseasesFarnesoid X receptorHydroxymethylglutaryl-CoA Reductase InhibitorsAsymmetric dimethylarginineCurrent Medicinal Chemistry
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Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features

2020

Abstract Background and aims Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated plasma levels of low density lipoprotein cholesterol (LDL-C) and high risk of premature atherosclerotic cardiovascular disease (ASCVD). HoFH is caused by pathogenic variants in several genes, such as LDLR, APOB and PCSK9, responsible for autosomal dominant hypercholesterolemia (ADH), and LDLRAP1 responsible for autosomal recessive hypercholesterolemia (ARH). Aim of this study was the review of the clinical and molecular features of patients with HoFH identified in Italy from 1989 to 2019. Methods Data were collected from lipid clinics and laboratories, …

Adult0301 basic medicinemedicine.medical_specialtyCandidate geneCandidate geneGenotype-phenotype correlationApolipoprotein BCandidate genes; Genotype-phenotype correlations; Homozygous familial hypercholesterolemia; Pathogenic variantsHomozygous familial hypercholesterolemiaGenotype-phenotype correlationsFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityCandidate genesHyperlipoproteinemia Type II03 medical and health sciences0302 clinical medicineInternal medicinemedicineHumansbiologybusiness.industryPCSK9HomozygoteGenetic disorderPathogenic variantsCandidate genes; Genotype-phenotype correlations; Homozygous familial hypercholesterolemia; Pathogenic variants;medicine.diseasePhenotype030104 developmental biologyEndocrinologyItalyReceptors LDLAutosomal Recessive HypercholesterolemiaMutationLDL receptorbiology.proteinlipids (amino acids peptides and proteins)Proprotein Convertase 9Cardiology and Cardiovascular Medicinebusiness
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Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients …

2003

Few data are available on genotype-phenotype interactions among familial hypercholesterolemia (FH) patients in South European populations and there are no data about the influence of R3500Q mutation on lipoprotein phenotype compared to low-density lipoprotein receptor (LDLR) mutations. The objective of the study is to analyze the influence of mutations in the LDLR and apolipoprotein B (apoB) genes on lipoprotein phenotype among subjects clinically diagnosed of FH living in East Spain. In all, 113 FH index patients and 100 affected relatives were studied. Genetic diagnosis was carried out following a protocol based on Southern blot and PCR-SSCP analysis. A total of 118 FH subjects could be c…

AdultAdolescentApolipoprotein BHypercholesterolemiaPopulationMutation MissenseFamilial hypercholesterolemiaBiologymedicine.disease_causechemistry.chemical_compoundGeneticsmedicineHumansMissense mutationeducationGenetics (clinical)Apolipoproteins BGeneticsMutationeducation.field_of_studyCholesterolMiddle Agedmedicine.diseaseEuropePhenotypeReceptors LDLchemistryLDL receptorbiology.proteinlipids (amino acids peptides and proteins)LipoproteinEuropean Journal of Human Genetics
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Risk factors, atrial fibrillation and thromboembolic events.

2008

AIM: The aim of this study was to evaluate the relation between risk factors for atrial fibrillation (AF) and thromboembolic complications. METHODS: We studied 480 patients (mean age: 71.2+/-11.6 years): 240 with paroxysmal AF, 240 with permanent AF. The association between AF and the presence of risk factors, cardiac and systemic disease was observed and the correlation with the occurrence of complications analyzed. RESULTS: Patients with AF had a high prevalence of the following conditions: hypertension, hypertensive heart disease (HHD), coronary artery disease, hyperthyroidism. Thromboembolism was observed in 26.6% of the patients. A correlation between the occurrence of a thromboembolic…

AdultAged 80 and overMaleHypercholesterolemiaSmokingFibrinogenMiddle Agedatrial fibrillation risk factorsCohort StudiesDiabetes ComplicationsYoung AdultRisk FactorsThromboembolismAtrial FibrillationHypertensionHumansFemaleObesityAgedInternational angiology : a journal of the International Union of Angiology
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Increased thromboxane biosynthesis in type IIa hypercholesterolemia.

1992

BACKGROUND Increased platelet thromboxane (TX)A2 production has been described in type IIa hypercholesterolemia. To verify the relevance of these capacity-related measurements to the actual rate of TXA2 biosynthesis in vivo, we studied the urinary excretion of its major enzymatic metabolites in 46 patients with type IIa hypercholesterolemia and 20 age-matched controls. METHODS AND RESULTS Urinary 11-dehydro-TXB2 and 2,3-dinor-TXB2 were measured by previously validated radioimmunoassays. The excretion rate of 11-dehydro-TXB2 was significantly (p less than 0.001) higher in patients (68.7 +/- 35.1 ng/hr, mean +/- SD) than in controls (22.4 +/- 9.4 ng/hr), with metabolite excretion greater tha…

AdultBlood PlateletsMalemedicine.medical_specialtySimvastatinThromboxaneMetaboliteHypercholesterolemiaExcretionchemistry.chemical_compoundThromboxane A2Physiology (medical)Internal medicinemedicineHumansPlateletPlatelet activationLovastatinAgedbiologyAspirinDose-Response Relationship Drugbusiness.industryCholesterolAnticholesteremic AgentsMiddle AgedEndocrinologychemistrySimvastatinbiology.proteinlipids (amino acids peptides and proteins)FemaleCyclooxygenaseCardiology and Cardiovascular Medicinebusinessmedicine.drugCirculation
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Effects of Mediterranean Diet on Lipid Levels and Cardiovascular Risk in Renal Transplant Recipients

1999

<i>Background:</i> Renal transplant recipients have an increased incidence of cardiovascular disease. These patients present abnormalities of lipoprotein profile which are persistent and involve an increasing number of individuals, suggesting the opportunity of an early therapeutic intervention. <i>Methods:</i> We evaluated the effects of a 10- to 12-week diet based on the American Heart Association step-one diet criteria, modified with an increased intake of monounsaturated fats and alimentary fibers, on lipid profile and lipid-related cardiovascular risk in 78 normolipidemic and hyperlipidemic renal transplant recipients. <i>Results:</i> Diet led to a s…

AdultDietary FiberMalemedicine.medical_specialtyMediterranean dietHypercholesterolemiaGastroenterologychemistry.chemical_compoundDietary Fats UnsaturatedRisk FactorsInternal medicineMediterranean SeamedicineHumansRisk factorKidneyCholesterolbusiness.industryIncidence (epidemiology)Middle Agedmedicine.diseaseKidney TransplantationLipidsDietLipoproteins LDLTransplantationCholesterolEndocrinologymedicine.anatomical_structurechemistryCardiovascular DiseasesFemalebusinessLipoproteinKidney diseaseNephron
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Efficacy and safety of lomitapide in homozygous familial hypercholesterolaemia: the pan-European retrospective observational study

2021

Abstract Aims Lomitapide is a lipid-lowering agent indicated as an adjunct therapy for adult homozygous familial hypercholesterolaemia (HoFH). This study evaluated the medium-term effectiveness and safety of lomitapide in a large cohort of HoFH patients in Europe. Methods and results In a multicentre retrospective, observational study including 75 HoFH patients treated with lomitapide in a real-world clinical setting from 9 European countries, low-density lipoprotein cholesterol (LDL-C) changes, adverse events (AEs), and major adverse cardiovascular events (MACE) were assessed. After a median 19 months (interquartile range 11–41 months) of treatment with a mean dosage of 20 mg of lomitapide…

AdultHomozygous Familial HypercholesterolemiaSettore MED/09 - Medicina InternaEpidemiologyAnticholesteremic AgentsHomozygoteMedium-term efficacyCholesterol LDLMedium-term safetyBenzimidazoleLomitapideHomozygous Familial Hypercholesterolemia; atherosclerosis; lomitapide; medium-term efficacy; medium-term safetyHyperlipoproteinemia Type IIHomozygous familial hypercholesterolaemiaRetrospective StudieAtherosclerosiAnticholesteremic AgentHumansBenzimidazolesatherosclerosisCardiology and Cardiovascular MedicineRetrospective StudiesHuman
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Emotional eating as a mediator between anxiety and cholesterol in population with overweight and hypertension

2016

Although the relationship between cholesterol and mood states (especially anxiety) has been well studied, few researches have included the role of eating styles in this relationship. This study explored the associations among eating styles, negative emotional symptoms, and levels of cholesterol (and other medical variables) in a population with hypertension and overweight or obesity, analyzing the possible mediation mechanisms involved. A cross-sectional study was conducted in 68 adults with hypertension and overweight/obesity, and stepwise multiple regression analysis and mediation analyses were carried out to test the hypothesis that eating styles mediate the relationship between negative…

AdultMale0301 basic medicineMediation (statistics)medicine.medical_specialtyHypercholesterolemiaStatistics as TopicPopulation030204 cardiovascular system & hematologyOverweightHigh cholesterol03 medical and health sciences0302 clinical medicineSurveys and QuestionnairesmedicineHumansAffective SymptomsPsychiatryeducationApplied PsychologyAgededucation.field_of_study030109 nutrition & dieteticsFeeding BehaviorMiddle AgedOverweightEmotional eatingmedicine.diseaseAnxiety DisordersObesityPsychiatry and Mental healthClinical PsychologyCross-Sectional StudiesMoodHypertensionAnxietyFemalelipids (amino acids peptides and proteins)medicine.symptomPsychologyClinical psychologyPsychology, Health & Medicine
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Lomitapide affects HDL composition and function

2016

Abstract Background Lomitapide reduces low-density lipoprotein-cholesterol (LDL-C) but also high-density lipoprotein-cholesterol (HDL-C) levels. The latter may reduce the clinical efficacy of lomitapide. We investigated the effect of lomitapide on HDL-C levels and on cholesterol efflux capacity (CEC) of HDL in patients with homozygous familial hypercholesterolemia (HoFH). Methods and results Four HoFH patients were treated with increasing dosages of lomitapide. Lomitapide decreased LDL-C (range −34 to −89%). Total HDL-C levels decreased (range −16 to −34%) with a shift to buoyant HDL. ABCA1-mediated CEC decreased in all patients (range −39 to −99%). The changes of total, ABCG1- and SR-BI-me…

AdultMale0301 basic medicinemedicine.medical_specialtySettore MED/09 - Medicina InternaHDLHomozygous familial hypercholesterolemiaFamilial hypercholesterolemia030204 cardiovascular system & hematologyHyperlipoproteinemia Type IIYoung Adult03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternal medicineHumansMedicineIn patientClinical efficacyHyperlipoproteinemia Type IICholesterolbusiness.industryCholesterol HDLHomozygotenutritional and metabolic diseasesCholesterol LDLCholesterol efflux capacityAtherosclerosismedicine.diseaseCholesterol lowering drugsLomitapideLomitapideCholesterolPhenotypeTreatment Outcome030104 developmental biologyEndocrinologychemistryBenzimidazolesFemalelipids (amino acids peptides and proteins)Composition (visual arts)Cholesterol lowering drugHydroxymethylglutaryl-CoA Reductase InhibitorsLipoproteins HDLCardiology and Cardiovascular MedicinebusinessATP Binding Cassette Transporter 1Atherosclerosis
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Effects of phytosterol ester-enriched low-fat milk on serum lipoprotein profile in mildly hypercholesterolaemic patients are not related to dietary c…

2010

Phytosterols (PS) are recommended to reduce LDL-cholesterol. However, the influence of cholesterol and fat intake on the lipid-lowering effect of PS in mildly hypercholesterolaemia is unclear. Thus, the aim of the present study was to evaluate whether the efficacy of PS is related to the composition of saturated fat and dietary cholesterol intake. Additionally, serum carotenoid content was analysed to evaluate to what extent it was undermined by PS. This was a 3-month randomised, parallel trial with a three-arm design. Patients were divided into three groups: healthy diet (n 24), healthy diet + PS (n 31) and free diet + PS (n 29), receiving 2 g/d of PS. Healthy and free diets were character…

AdultMaleAdolescentSaturated fatHypercholesterolemiaMedicine (miscellaneous)Blood lipidsCholesterol Dietarychemistry.chemical_compoundYoung Adultbeta-CaroteneAnimalsHumansFood scienceAgedNutrition and DieteticsChemistryCholesterolPlant ExtractsPhytosterolFatty AcidsPhytosterolsMiddle Agedbeta CaroteneDietary FatsSterolApolipoproteinsCholesterolMilkSaturated fatty acidFood Fortifiedlipids (amino acids peptides and proteins)FemaleLipoproteinPhytotherapy
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