0000000000081196

AUTHOR

Barbara Sjouke

showing 3 related works from this author

Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia—Brief Report

2016

Objective— Proprotein convertase subtilisin kexin type 9 (PCSK9) inhibitors lower low-density lipoprotein (LDL) cholesterol in the vast majority of patients with autosomal dominant familial hypercholesterolemia. Will PCSK9 inhibition with monoclonal antibodies, in particular alirocumab, be of therapeutic value for patients with autosomal recessive hypercholesterolemia (ARH)? Approach and Results— Primary lymphocytes were obtained from 28 genetically characterized ARH patients and 11 controls. ARH lymphocytes treated with mevastatin were incubated with increasing doses of recombinant PCSK9 with or without saturating concentrations of alirocumab. Cell surface LDL receptor expression measured…

Male0301 basic medicineSettore MED/09 - Medicina Interna[SDV]Life Sciences [q-bio]receptorsalirocumabFamilial hypercholesterolemia030204 cardiovascular system & hematologyproprotein convertase subtilisin kexin type 90302 clinical medicinetherapeuticsLymphocytesCells CulturedhypercholesterolemiaAnticholesteremic AgentsPCSK9 InhibitorsAntibodies MonoclonalMiddle Aged3. Good healthPhenotypeAutosomal Recessive HypercholesterolemiaKexinDrug Therapy CombinationFemalelipids (amino acids peptides and proteins)LovastatinProprotein Convertase 9Cardiology and Cardiovascular Medicinemedicine.drugAdultmedicine.medical_specialtySerine Proteinase InhibitorsAdolescentBiologyAntibodies Monoclonal HumanizedLDLYoung Adult03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to DiseaseLovastatinAdaptor Proteins Signal TransducingAlirocumabPCSK9receptors LDLCholesterol LDLmedicine.diseaseProprotein convertasetherapeutic030104 developmental biologyEndocrinologyCase-Control Studiesalirocumab; hypercholesterolemia; proprotein convertase subtilisin kexin type 9; receptors LDL; therapeutics; Cardiology and Cardiovascular MedicineMutationLDL receptorHydroxymethylglutaryl-CoA Reductase InhibitorsArteriosclerosis, Thrombosis, and Vascular Biology
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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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Autosomal Recessive Hypercholesterolemia Long-Term Cardiovascular Outcomes

2017

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 of age…

AdultMaleTime FactorsSettore MED/09 - Medicina InternaAdolescentatherosclerotic cardiovascular disease; autosomal recessive hypercholesterolemia; follow-up; lipid-lowering therapies; retrospective analysisHypercholesterolemiaretrospective analysiatherosclerotic cardiovascular disease; autosomal recessive hypercholesterolemia; follow-up; lipid-lowering therapies; retrospective analysis; Cardiology and Cardiovascular MedicineCohort StudiesYoung Adultautosomal recessive hypercholesterolemialipid-lowering therapiesfollow-upHumansLongitudinal StudiesChildlipid-lowering therapiesAgedRetrospective Studieslipid-lowering therapieatherosclerotic cardiovascular diseaseCholesterol LDLMiddle Agedretrospective analysisTreatment OutcomeCardiovascular DiseasesChild PreschoolFemaleCardiology and Cardiovascular MedicineFollow-Up Studies
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