Search results for "Cholesterol"

showing 10 items of 1211 documents

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disabilit…

2019

International audience; Purpose Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. It is a rare autosomal recessive condition characterized by hypotrichosis and intellectual disability (ID) or developmental delay (DD), frequently associated with early-onset epilepsy and other dermatological features. Methods Through a multicenter international collaborative study, we identified LSS pathogenic variants in APMR individu…

MaleDevelopmental DisabilitiesIntellectual disabilitycholesterol pathwayWhole Exome Sequencingchemistry.chemical_compoundMissense mutationAge of OnsetChildIntramolecular TransferasesGenetics (clinical)Exome sequencingGeneticsSanger sequencing0303 health sciencesbiologyLanosterol030305 genetics & heredityLSS3. Good healthPedigreeCholesterolPhenotypeintellectual disabilityChild PreschoolAllelic ImbalanceCongenital cataractssymbolsFemaleSqualeneearly-onset epileptic encephalopathy03 medical and health sciencessymbols.namesakeLanosterolCholesterol pathwayExome SequencingmedicineHumans030304 developmental biologyEpilepsyInfantAlopeciaalopeciamedicine.diseaseEarly-onset epileptic encephalopathychemistryMutationbiology.proteinHypotrichosis[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/DermatologyLanosterol synthase
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Effects of medication, treatment, and behavioral beliefs on intentions to take medication in patients with familial hypercholesterolemia

2018

Although familial hypercholesterolemia (FH) can be effectively managed using cholesterol-lowering medication, patients often fall short of complete treatment adherence. Identifying the psychological factors associated with self-regulation of FH medication is important to inform interventions to maximize adherence. The aim of the present study was to test an integrated psychological model in predicting FH patients' intentions to take medication.FH patients attending clinics in seven countries were invited to participate in a cross-sectional survey study. Consenting patients (N = 551) completed self-report measures of generalized beliefs about medication overuse and harms, beliefs in treatmen…

MaleDisease statusHealth Knowledge Attitudes PracticeTreatment adherencePsychological interventionFamilial hypercholesterolemiaIntention030204 cardiovascular system & hematology0302 clinical medicineuskomuksetMedicinehyperlipidemia030212 general & internal medicineta515common sense modelAnticholesteremic AgentsTheory of planned behaviorSurvey researchta3141Middle AgedTreatment OutcomeSENSO COMUMFemaletheory of planned behaviorCardiology and Cardiovascular MedicinemedicinesAdultmedicine.medical_specialtyDown-RegulationModels PsychologicalRisk AssessmentMedication AdherenceHyperlipoproteinemia Type II03 medical and health sciencesHumansIn patientterve järkiPsychiatryAgedillness perceptionsbusiness.industrysairauskäsityksetCholesterol LDLmedicine.diseaseTaking medicationSelf CarelääkkeetCross-Sectional StudiesbeliefsbusinessBiomarkers
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Relationship between mobility and cognitive impairment in patients with Alzheimer's disease.

2019

Alzheimer's disease (AD) is usually accompanied by impairments to mobility, performance of the basic activities of daily life (ADL), and progressive cognitive decline. We analyzed the relationship between cognitive performance and related cognitive subdomains and mobility.All AD patients of the recruited individuals were living in nursing homes; they underwent a blood analysis, cognitive examination by using the Mini-Mental State Examination, functional evaluation of independence in the ADLs with Barthel score and Katz index, and mobility assessment with the elderly mobility scale.The mean sample age was 84 years and majority were women; more than 60% of the participants had severe cognitiv…

MaleDiseaseOverweight03 medical and health sciences0302 clinical medicineAlzheimer DiseaseActivities of Daily LivingmedicineDementiaHumansCognitive DysfunctionEffects of sleep deprivation on cognitive performanceLongitudinal StudiesObesityKatz indexMobility LimitationCognitive impairmentAgedAged 80 and overSex Characteristicsmedicine.diagnostic_testbusiness.industryCholesterol HDLCognitionGeneral MedicineOverweightmedicine.diseaseMental Status and Dementia TestsLipids030220 oncology & carcinogenesisSurgeryFemaleNeurology (clinical)medicine.symptomLipid profilebusiness030217 neurology & neurosurgeryPsychomotor PerformanceClinical psychologyClinical neurology and neurosurgery
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Patients with coronary artery disease and diabetes need improved management : a report from the EUROASPIRE IV survey: a registry from the EuroObserva…

2015

Background: In order to influence every day clinical practice professional organisations issue management guidelines. Cross-sectional surveys are used to evaluate the implementation of such guidelines. The present survey investigated screening for glucose perturbations in people with coronary artery disease and compared patients with known and newly detected type 2 diabetes with those without diabetes in terms of their life-style and pharmacological risk factor management in relation to contemporary European guidelines. Methods: A total of 6187 patients (18-80 years) with coronary artery disease and known glycaemic status based on a self reported history of diabetes (previously known diabet…

MaleEUROASPIRE InvestigatorsCardiac & Cardiovascular SystemsCross-sectional studyEndocrinology Diabetes and MetabolismAngiotensin-Converting Enzyme InhibitorsBlood PressureCoronary Artery DiseaseType 2 diabetesGUIDELINESCoronary artery diseaseMELLITUSRisk FactorsGlycaemic controlMedicine and Health SciencesSecondary PreventionCoronary artery disease ; Type 2 diabetes ; Secondary prevention ; Management ; Guideline adherence ; Blood lipids ; Blood pressure ; Glycaemic controlCardiac and Cardiovascular SystemsRegistriesMyocardial infarctionGLUCOSE CONTROLOriginal InvestigationBLOOD-GLUCOSEType 2 diabetesMiddle AgedManagementEuropeglycaemic controlHypertensionPractice Guidelines as TopicHEARTPlatelet aggregation inhibitorFemaletype 2 diabetesGuideline AdherenceCardiology and Cardiovascular MedicineLife Sciences & Biomedicinemanagementmedicine.medical_specialtyCardiotonic AgentsAdrenergic beta-Antagonists/Endocrinology and Diabetes1102 Cardiovascular Medicine And HaematologyEndocrinology & MetabolismAngiotensin Receptor AntagonistsSDG 3 - Good Health and Well-beingInternal medicineDiabetes mellitusmedicineHumansHypoglycemic Agentsddc:610Risk factorAntihypertensive AgentsAgedDyslipidemiasScience & Technologyblood lipidsbusiness.industryMORTALITYCholesterol LDLmedicine.diseaseCross-Sectional StudiesBlood pressureCardiovascular System & HematologyMYOCARDIAL-INFARCTIONDiabetes Mellitus Type 2Cardiovascular System & CardiologyBlood lipidsCARDIOVASCULAR-DISEASESRISK-FACTORSHydroxymethylglutaryl-CoA Reductase InhibitorsFOLLOW-UPbusinessPlatelet Aggregation Inhibitors
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Molecular Pathways Involved in Prostate Carcinogenesis: Insights from Public Microarray Datasets

2012

PLoS one 7(11), e49831 (2012). doi:10.1371/journal.pone.0049831

MaleEXPRESSIONMicroarrayMicroarraysPopulationlcsh:MedicineBiologyMETABOLISMMalignancyBioinformaticsMetastasisMolecular GeneticsProstate cancerGeneticsCancer GeneticsBiomarkers TumormedicineHumansEpithelial–mesenchymal transitioneducationProstate carcinogenesislcsh:ScienceBiologyCANCER CELLSSIGNATURESOligonucleotide Array Sequence Analysiseducation.field_of_studyMultidisciplinarySystems BiologyProstate CancerCHOLESTEROLlcsh:RComputational BiologyCancers and NeoplasmsProstatic NeoplasmsGenomicsmedicine.diseaseEPITHELIAL-MESENCHYMAL TRANSITIONGene Expression Regulation NeoplasticMODELGenitourinary Tract TumorsCell Transformation NeoplasticOncologyCancer cellBIOLOGICAL PATHWAYSMedicinelcsh:QMetabolic Networks and PathwaysResearch Article
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Investigation of the vascular and pleiotropic effects of atorvastatin and pioglitazone in a population at high cardiovascular risk.

2008

We investigated the effect of atorvastatin monotherapy and combined treatment with atorvastatin and pioglitazone on intima-media thickness, vascular function and the cardiovascular risk profile. In all, 148 patients (76 male, 72 female; aged 61.4±6.5 years; body mass index [BMI] 29.2±4.1 kg/m2; mean±SD) with increased cardiovascular (CV) risk factors were randomised. Intima-media thickness (IMT), the augmentation index (Aix@75), the microvascular response to acetylcholine (LDF), lipid status, and plasma levels of intact proinsulin, adiponectin, interleukin-6 (IL-6), monocyte chemotactic protein-1 (MCP-1), matrix metalloproteinase-9 (MMP-9), sCD40L, P-selectin, tissue plasminogen activator …

MaleEndocrinology Diabetes and MetabolismAtorvastatinBlood lipidsBlood Pressurechemistry.chemical_compoundGermanyAtorvastatinMedicineProspective StudiesSkinUltrasonographyeducation.field_of_studymedicine.diagnostic_testMiddle AgedLipidsTreatment OutcomeCardiovascular DiseasesRadial ArteryDrug Therapy CombinationFemaleInflammation MediatorsCardiology and Cardiovascular Medicinemedicine.drugmedicine.medical_specialtyCarotid Artery CommonPopulationRisk AssessmentDouble-Blind MethodInternal medicineInternal MedicineHumansPyrroleseducationAgedAdiponectinPioglitazonebusiness.industryCholesterolMicrocirculationAtherosclerosisEndocrinologychemistryHeptanoic AcidsThiazolidinedionesHydroxymethylglutaryl-CoA Reductase InhibitorsbusinessLipid profilePioglitazoneLipoproteinDiabetesvascular disease research
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Evaluation of remnant cholesterol levels and Monocyte-to-HDL-cholesterol ratio in South Asian patients with acute coronary syndrome.

2021

Abstract Background and aims In the present study, we aimed to compare the clinical and coronary angiography features between South Asian and Caucasian patients with Acute Coronary Syndrome (ACS). In particular, we focused our analysis on the evaluation of recent cardiovascular risk markers, such as remnant cholesterol, corresponding to all plasma cholesterol minus HDL-C (high-density lipoprotein cholesterol) and LDL-C (low-density lipoprotein cholesterol), and the Monocyte-to-HDL-cholesterol ratio. We also compared values of several lipoprotein ratios and the Platelet-to-lymphocyte ratio, accurate predictors of coronary events and coronary artery disease. Methods and results We recruited 4…

MaleEndocrinology Diabetes and MetabolismMedicine (miscellaneous)Coronary Artery Disease030204 cardiovascular system & hematologyCoronary AngiographyMonocyte-to-HDL-cholesterol ratioMonocytesCoronary artery diseasechemistry.chemical_compoundLeukocyte Count0302 clinical medicinePrevalenceNutrition and DieteticsRemnant cholesterolMedical recordMiddle AgedCholesterolItalyHDL/cholesterol ratiolipids (amino acids peptides and proteins)FemalePlatelet-to-lymphocyte ratio.Cardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyAcute coronary syndromeSouth asia030209 endocrinology & metabolismRisk AssessmentWhite People03 medical and health sciencesAsian PeoplePredictive Value of TestsInternal medicineStatistical significancemedicineHumansAcute Coronary SyndromeRetrospective StudiesPlasma LipidAsianCholesterolbusiness.industryCholesterol HDLmedicine.diseasechemistryHeart Disease Risk FactorsbusinessBiomarkersLipoproteinNutrition, metabolism, and cardiovascular diseases : NMCD
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Visualization of a covalent intermediate between microsomal epoxide hydrolase, but not cholesterol epoxide hydrolase, and their substrates

1997

Mammalian soluble and microsomal epoxide hydrolases have been proposed to belong to the family of alpha/beta-hydrolase-fold enzymes. These enzymes hydrolyse their substrates by a catalytic triad, with the first step of the enzymatic reaction being the formation of a covalent enzyme-substrate ester. In the present paper, we describe the direct visualization of the ester formation between rat microsomal epoxide hydrolase and its substrate. Microsomal epoxide hydrolase was precipitated with acetone after brief incubation with [1-(14)C]epoxystearic acid. After denaturing SDS gel electrophoresis the protein-bound radioactivity was detected by fluorography. Pure epoxide hydrolase and crude micros…

MaleEpoxide hydrolase 21303 BiochemistryStereochemistryMolecular Sequence DataEpoxide10050 Institute of Pharmacology and Toxicology610 Medicine & healthBiochemistryRats Sprague-Dawleychemistry.chemical_compoundCatalytic triadAnimalsAmino Acid SequenceEpoxide hydrolaseMolecular BiologyEpoxide Hydrolaseschemistry.chemical_classificationHydrolysisCell BiologyRatsKineticsCholesterolEnzymeModels ChemicalSolubilitychemistryBiochemistryMicrosomal epoxide hydrolaseEpoxide HydrolasesCarcinogensChromatography GelMicrosomes LiverMicrosomeEpoxy Compounds570 Life sciences; biologySequence AlignmentStearic Acids
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Fate of Linear and Branched Polyether-Lipids In Vivo in Comparison to Their Liposomal Formulations by 18F-Radiolabeling and Positron Emission Tomogra…

2015

In this study, linear poly(ethylene glycol) (PEG) and novel linear-hyperbranched, amphiphilic polyglycerol (hbPG) polymers with cholesterol (Ch) as a lipid anchor moiety were radiolabeled with fluorine-18 via copper-catalyzed click chemistry. In vivo investigations via positron emission tomography (PET) and ex vivo biodistribution in mice were conducted. A systematic comparison to the liposomal formulations with and without the polymers with respect to their initial pharmacokinetic properties during the first hour was carried out, revealing remarkable differences. Additionally, cholesterol was directly labeled with fluorine-18 and examined likewise. Both polymers, Ch-PEG27-CH2-triazole-TEG-…

MaleFluorine RadioisotopesBiodistributionHydrodynamic radiusPolymers and PlasticsPolymersBioengineeringBiomaterialschemistry.chemical_compoundIn vivoAmphiphilePEG ratioMaterials ChemistryAnimalsOrganic chemistryTissue DistributionMicellesLiposomeChromatographyMice Inbred C57BLCholesterolchemistryIsotope LabelingPositron-Emission TomographyLiposomeslipids (amino acids peptides and proteins)RadiopharmaceuticalsEthylene glycolEx vivoEthersBiomacromolecules
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Different impacts of cardiovascular risk factors on oxidative stress.

2011

The objective of the study was to evaluate oxidative stress (OS) status in subjects with different cardiovascular risk factors. With this in mind, we have studied three models of high cardiovascular risk: hypertension (HT) with and without metabolic syndrome, familial hypercholesterolemia (FH) and familial combined hyperlipidemia (FCH) with and without insulin resistance. Oxidative stress markers (oxidized/reduced glutathione ratio, 8-oxo-deoxyguanosine and malondialdehide) together with the activity of antioxidant enzyme triad (superoxide dismutase, catalase, glutathione peroxidase) and activation of both pro-oxidant enzyme (NAPDH oxidase components) and AGTR1 genes, as well as antioxidant…

MaleGPX1Antioxidantmedicine.medical_treatmentGlutathione reductaseHyperlipidemia Familial Combinedmedicine.disease_causelcsh:Chemistrychemistry.chemical_compoundRisk FactorsMalondialdehydeoxidative stressglutathione peroxidaselcsh:QH301-705.5Spectroscopychemistry.chemical_classificationbiologyfamilial hypercholesterolemiaChemistryGlutathione peroxidaseGeneral MedicineMiddle AgedCatalaseGlutathioneComputer Science ApplicationsGlutathione Reductase8-Hydroxy-2'-DeoxyguanosineCardiovascular DiseasesFemaleThioredoxinAdultmedicine.medical_specialtyhypertensionmRNACatalysisGlutathione SynthaseArticleInorganic ChemistrySuperoxide dismutaseHyperlipoproteinemia Type IIInternal medicinemedicineHumansPhysical and Theoretical ChemistryMolecular BiologySuperoxide DismutaseGene Expression ProfilingOrganic ChemistryDeoxyguanosineNADPH OxidasesGlutathionesuperoxide dismutasesPhosphoproteinscombined familial dyslipidemiaEndocrinologylcsh:Biology (General)lcsh:QD1-999biology.proteinOxidative stressBiomarkersInternational journal of molecular sciences
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