Search results for "Cholesterolemia"

showing 10 items of 252 documents

The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency

2017

International audience; A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera (R)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in …

0301 basic medicinePediatricsPathologySettore MED/09 - Medicina Interna[SDV]Life Sciences [q-bio]Familial hypercholesterolemiaDisease030204 cardiovascular system & hematologyGeneTHERAPY0302 clinical medicineFamilialRisk FactorsHyperchylomicronemiaAlipogene tiparvovecRegistriesFAMILIAL HYPERCHOLESTEROLEMIAmedia_commonHypertriglyceridemiaPrognosis3. Good healthNatural historySystematic reviewPhenotypeDISEASESSAFETYHyperlipoproteinemia Type ICardiology and Cardiovascular Medicinemedicine.medical_specialtyAPHERESISRegistryFamilial chylomicronemia syndromeGENIALLLysosomal acid lipase deficiencyLipid Metabolism Inborn Errors03 medical and health sciencesLipoprotein lipase deficiencyRare DiseasesGene therapychylomicronemia syndromemedicinemedia_common.cataloged_instanceHumansGenetic Predisposition to DiseaseEuropean unionLipoprotein lipase deficiency (LPLD)business.industryALIPOGENE TIPARVOVEC AAV1-LPLS447Xmedicine.diseaseAlipogene tiparvovecLipoprotein Lipase030104 developmental biologyOrphan diseasebusiness
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P6234Lipid goals are poorly attained in majority of patients with familial hypercholesterolemia in Latvia at the time of inclusion in the national re…

2017

0301 basic medicinePediatricsmedicine.medical_specialtybusiness.industryFamilial hypercholesterolemia030204 cardiovascular system & hematologymedicine.disease03 medical and health sciences030104 developmental biology0302 clinical medicinemedicineNational registryCardiology and Cardiovascular MedicinebusinessInclusion (education)European Heart Journal
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Predictive validity of the risk SCORE model in a Mediterranean population with dyslipidemia.

2019

Background and aims: Cholesterol treatment for the primary prevention of cardiovascular disease is based on cardiovascular risk, as assessed by the SCORE (Systematic COronary Risk Evaluation) scale. This study aimed to assess the predictive value and clinical utility of the SCORE scale for preventing cardiovascular events and all-cause mortality in people with dyslipidemia and no lipid-lowering treatment. Methods: Patients with dyslipidemia and no lipid-lowering treatment were included from the ESCARVAL-RISK cohort. Cardiovascular risk was calculated by means of the SCORE scale. All deaths and cardiovascular events were recorded for up to five years of follow-up. We calculated sensitivity, …

0301 basic medicinePredictive validityAdultMalemedicine.medical_specialtyTime FactorsPopulationHypercholesterolemia030204 cardiovascular system & hematologyRisk Assessment03 medical and health sciences0302 clinical medicinePredictive Value of TestsRisk FactorsInternal medicineDiabetes mellitusSCOREmedicineHumansProspective StudiesRegistrieseducationAgededucation.field_of_studyFramingham Risk Scorebusiness.industryReproducibility of ResultsMiddle Agedmedicine.diseaseCardiovascular diseaseCardiovascular riskPrognosis030104 developmental biologyCardiovascular DiseasesSpainCohortDisease ProgressionFemaleMetabolic syndromeCardiology and Cardiovascular MedicinebusinessDyslipidemiaKidney diseaseAtherosclerosis
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Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A syste…

2017

Statin therapy is beneficial in reducing LDL cholesterol (LDL-C) levels and cardiovascular events, but it is associated with the risk of incident diabetes mellitus (DM). Familial hypercholesterolemia (FH) is characterized by genetically determined high levels of plasma LDL-C and a low prevalence of DM. LDL-C levels seem then inversely correlated with prevalence of DM. Familial hypobetalipoproteinemia (FHBL) represents the genetic mirror of FH in terms of LDL-C levels, very low in subjects carrying mutations of APOB, PCSK9 (FHBL1) or ANGPTL3 (FHBL2). This review explores the hypothesis that FHBL might represent also the genetic mirror of FH in terms of prevalence of DM and that it is expecte…

0301 basic medicineProbandMalemedicine.medical_specialtySettore MED/09 - Medicina InternaApolipoprotein BEndocrinology Diabetes and MetabolismPopulationPrevalenceFamilial hypercholesterolemia030204 cardiovascular system & hematologyHypobetalipoproteinemias03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEndocrinologyInternal medicineDiabetes mellitusInternal MedicinemedicineDiabetes MellitusPrevalenceHumansFamilial hypobetalipoproteinemiaDiabetes mellitus riskeducationeducation.field_of_studybiologyCholesterolbusiness.industryPCSK9StatinsStatinGeneral MedicineCholesterol LDLFamilial hypobetalipoproteinemia; Cholesterol; Diabetes mellitus risk ;Statinsmedicine.diseaseFamilial hypobetalipoproteinemia-Cholesterol- Diabetes mellitus risk- Statins030104 developmental biologyEndocrinologyCholesterolchemistrybiology.proteinlipids (amino acids peptides and proteins)Femalebusiness
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Anti-PCSK9 treatment: is ultra-low low-density lipoprotein cholesterol 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 low-density lipoprotein (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…

0301 basic medicineSerine Proteinase InhibitorsTime FactorsPhysiologymedicine.drug_class030204 cardiovascular system & hematologyPharmacologyMonoclonal antibodyRisk Assessment03 medical and health sciencesPCSK9 Genechemistry.chemical_compound0302 clinical medicineRisk FactorsPhysiology (medical)Diabetes mellitusmedicineAnimalsHumansDyslipidemiasmedicine.diagnostic_testbusiness.industryCholesterolPCSK9Anticholesteremic AgentsPCSK9 InhibitorsAntibodies MonoclonalCholesterol LDLmedicine.diseaseFatty LiverHypocholesterolemia030104 developmental biologyTreatment OutcomechemistryDiabetes Mellitus Type 2lipids (amino acids peptides and proteins)Proprotein Convertase 9Cardiology and Cardiovascular MedicineLipid profilebusinessCognition DisordersBiomarkersLipoproteinCardiovascular research
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Oral Unsaturated Fat Load Impairs Postprandial Systemic Inflammation in Primary Hypercholesterolemia Patients.

2021

Context: Primary hypercholesterolemia (PH) is a lipid disorder characterized by elevated levels of cholesterol and low-density lipoprotein (LDL). Low-grade systemic inflammation is associated with PH, which might explain the higher incidence of cardiovascular diseases in this setting.Objective: To evaluate the effect of an oral unsaturated fat load (OUFL) on different immune parameters and functional consequences in patients with PH in postprandial state.Design: A commercial liquid preparation of long-chain triglycerides (Supracal®; ω6/ω3 ratio >20/1, OUFL) was administered to 20 patients and 10 age-matched controls. Whole blood was collected before (fasting state) and 4 h after admi…

0301 basic medicinemedicine.medical_specialtyEndotheliumleukocytesinflammatory mediatorsRM1-950030204 cardiovascular system & hematologySystemic inflammationendothelial dysfunction03 medical and health scienceschemistry.chemical_compound0302 clinical medicineoral unsaturated fat loadInternal medicineprimary hypercholesterolemiamedicineplatelet activationPharmacology (medical)Platelet activationEndothelial dysfunctionOriginal ResearchPharmacologysystemic inflammationCholesterolbusiness.industryUnsaturated fatmedicine.disease030104 developmental biologyEndocrinologymedicine.anatomical_structurePostprandialchemistryTherapeutics. Pharmacologymedicine.symptombusinessLipoproteinFrontiers in pharmacology
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Bergamot reduces plasma lipids, atherogenic small dense LDL, and subclinical atherosclerosis in subjects with moderate hypercholesterolemia: A 6 mont…

2016

Background: Some patients experience statin-induced side effects or prefer nutraceutical approaches for the treatment of dyslipidemia. This has led to a search for alternative therapeutic approaches for dyslipidemia management. In recent studies Citrus bergamia (known as Bergamot) juice was able to reduce serum levels of lipids. Such benefit may be attributed to high amounts of flavonoids contained in Bergamot fruit juice (neoeriocitrin, neohesperidin, naringin). The aim of the present study was to fully investigate the effects of a Bergamot extract on cardio-metabolic parameters, including plasma lipids, atherogenic lipoproteins and subclinical atherosclerosis. Methods: Eighty subjects (42…

0301 basic medicinemedicine.medical_specialtyHypercholesterolemiaBergamotCarotid IMT030204 cardiovascular system & hematology03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternal medicineNeoeriocitrinMedicinePharmacology (medical)Prospective cohort studyNaringinOriginal ResearchLDL subclassesPharmacologyNeohesperidinbusiness.industryCholesterollcsh:RM1-950medicine.diseaseCardiovascular risklcsh:Therapeutics. Pharmacology030104 developmental biologyEndocrinologychemistryLow-density lipoproteinlipids (amino acids peptides and proteins)LDL subclassebusinessDyslipidemiaLipoprotein
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Autosomal Recessive Hypercholesterolemia

2018

Abstract Background Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. Objectives Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. Methods Published ARH cases were identified by electronic search. All corresponding authors and physicians known to treat these patients were asked to provide follow-up information, using a standardized protocol. Results We collected data for 52 patients (28 females, 24 males; 31.1 ± 17.1 years…

0301 basic medicinemedicine.medical_specialtyStatinAtherosclerotic cardiovascular diseasebusiness.industrymedicine.drug_class030204 cardiovascular system & hematologyLomitapide03 medical and health scienceschemistry.chemical_compound030104 developmental biology0302 clinical medicineEzetimibechemistryAutosomal Recessive HypercholesterolemiaInternal medicinemedicineEffective treatmentlipids (amino acids peptides and proteins)In patientCardiology and Cardiovascular MedicinebusinessCardiovascular outcomesmedicine.drugJournal of the American College of Cardiology
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Why continued lipoprotein apheresis is vital for homozygous familial hypercholesterolemia patients with COVID-19

2021

2019-20 coronavirus outbreakCoronavirus disease 2019 (COVID-19)LipoproteinsEndocrinology Diabetes and MetabolismSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)Familial hypercholesterolemia030204 cardiovascular system & hematologyHyperlipoproteinemia Type II03 medical and health sciences0302 clinical medicinePandemicInternal MedicinemedicineHumansHyperlipoproteinemia Type IILife StylePandemicsLetter to the Editor030304 developmental biology0303 health sciencesNutrition and DieteticsSARS-CoV-2Life stylebusiness.industryHomozygoteCOVID-19medicine.diseaseImmunologyBlood Component RemovalCardiology and Cardiovascular MedicinebusinessLipoprotein apheresisJournal of Clinical Lipidology
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HETEROGENITY OF AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA IN SICILY

2004

AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIAMUTATIONSEPIDEMIOLOGY
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