Search results for "Sterol"

showing 10 items of 1416 documents

Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred.

2017

Background Autosomal recessive hypercholesterolemia (ARH) is a rare inherited lipid disorder. In Sardinia, differently from other world regions, the mutated allele frequency is high. It is caused by mutations in the low-density lipoprotein receptor adaptor protein 1 gene. Fourteen different mutations have been reported so far; in Sardinia, 2 alleles (ARH1 and ARH2) explain most of the cases. Four ARH patients, all carriers of the ARH1 mutation, have been identified in mainland Italy and 2 in Sicily. Objective The objectives of the study were to improve the molecular diagnosis of familial hypercholesterolemia (FH) and to estimate the frequency of the ARH1 allele in 2 free-living Sicilian pop…

0301 basic medicineMaleSettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismFamilial hypercholesterolemia030204 cardiovascular system & hematology0302 clinical medicineChildN-Glycosyl HydrolasesSicilyGeneticsAged 80 and overeducation.field_of_studyNutrition and DieteticsAllele frequencyHomozygoteHigh-Throughput Nucleotide SequencingAutosomal recessive hypercholesterolemiaMiddle AgedAutosomal Recessive HypercholesterolemiaSettore MED/26 - NeurologiaFemaleCardiology and Cardiovascular MedicineAdultAdolescentGenotypePopulationHypercholesterolemiaBiologyDNA sequencing03 medical and health sciencesYoung AdultARH1Internal MedicinemedicineHumansAlleleeducationGenotypingAllele frequencyAllelesAdaptor Proteins Signal TransducingAgedHeterozygous carrierSequence Analysis DNAmedicine.diseaseNGS-based gene panel030104 developmental biologyGenetic epidemiologyReceptors LDLJournal of clinical lipidology
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Tomato sauce enriched with olive oil exerts greater effects on cardiovascular disease risk factors than raw tomato and tomato sauce: a randomized tri…

2016

Epidemiological studies have observed a negative association between tomato intake and the incidence of cardiovascular disease. As tomato sauces are usually cooked with the addition of oil, some studies have pointed out that both processes may increase the bioavailability of the bioactive compounds. However, the effect of consumption of raw tomatoes and tomato sauces on inflammation biomarkers and adhesion molecules related to atherosclerosis remains unknown. The aim of this study was to test the postprandial effects of a single dose of raw tomatoes (RT), tomato sauce (TS) and tomato sauce with refined olive oil (TSOO) on cardiovascular disease risk factors. We performed an open, prospectiv…

0301 basic medicineMaleTime FactorsLymphocyteCD36postprandial030204 cardiovascular system & hematologytomatochemistry.chemical_compound0302 clinical medicineSolanum lycopersicumRisk FactorsTomàquetsFood scienceCookingProspective StudiesProspective cohort studyNutrition and DieteticsCross-Over Studiesbiologycardiovascularcookedfood and beveragesPostprandial PeriodLipidsInflamaciótomato; postprandial; cardiovascular; cooked; food matrix; bioavailabilityOli d'olivaPostprandialmedicine.anatomical_structureCardiovascular diseasesEstudi de casosCardiovascular DiseasesFemaleInflammation Mediatorslcsh:Nutrition. Foods and food supplyNutritive ValueAdultAdolescentlcsh:TX341-641Article03 medical and health sciencesYoung AdultTomatoesmedicineHumansSugarOlive OilInflammation030109 nutrition & dieteticsCholesterolbusiness.industryMalalties cardiovascularsProtective FactorsCrossover studyBioavailabilityDietchemistrySpainFruitbiology.proteinCase studiesbusinessEnergy IntakebioavailabilityCell Adhesion MoleculesBiomarkersfood matrixOlive oilFood Science
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An in-depth analysis shows a hidden atherogenic lipoprotein profile in non-diabetic chronic kidney disease patients

2019

Background: Chronic kidney disease (CKD) is an independent risk factor for atherosclerotic disease. We hypothesized that CKD promotes a proatherogenic lipid profile modifying lipoprotein composition and particle number. Methods: Cross-sectional study in 395 non-diabetic individuals (209 CKD patients and 186 controls) without statin therapy. Conventional lipid determinations were combined with advanced lipoprotein profiling by nuclear magnetic resonance, and their discrimination ability was assessed by machine learning. Results: CKD patients showed an increase of very-low-density (VLDL) particles and a reduction of LDL particle size. Cholesterol and triglyceride content of VLDLs and intermed…

0301 basic medicineMaleVery low-density lipoproteinMagnetic Resonance SpectroscopyClinical BiochemistryMachine LearningPCSK9chemistry.chemical_compound0302 clinical medicineLp(a)Risk FactorsDrug DiscoveryProspective Studiesmedicine.diagnostic_testMiddle AgedLipids030220 oncology & carcinogenesisMolecular MedicineFemalelipids (amino acids peptides and proteins)Proprotein Convertase 9Adultmedicine.medical_specialtylipoprotein subfractionsLipoproteins03 medical and health sciencesInternal medicinemedicineHumansRisk factorRenal Insufficiency ChronicAgedPharmacologybusiness.industryCholesterolPCSK9dyslipidemiamedicine.diseaseAtherosclerosis030104 developmental biologyEndocrinologyCross-Sectional StudieschemistryCase-Control StudiesbusinessLipid profileDyslipidemiachronic kidney diseaseLipoproteinKidney disease
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Whole-blood transcriptome profiling reveals signatures of metformin and its therapeutic response

2020

Metformin, a biguanide agent, is the first-line treatment for type 2 diabetes mellitus due to its glucose-lowering effect. Despite its wide application in the treatment of multiple health conditions, the glycemic response to metformin is highly variable, emphasizing the need for reliable biomarkers. We chose the RNA-Seq-based comparative transcriptomics approach to evaluate the systemic effect of metformin and highlight potential predictive biomarkers of metformin response in drug-naive volunteers with type 2 diabetes in vivo. The longitudinal blood-derived transcriptome analysis revealed metformin-induced differential expression of novel and previously described genes involved in cholester…

0301 basic medicineMaleendocrine system diseasesMolecular biologyGene ExpressionType 2 diabetesPharmacologyBiochemistryTranscriptome0302 clinical medicineEndocrinologyMedical ConditionsSequencing techniquesGastrointestinal CancersBreast TumorsMedicine and Health SciencesHomeostasisEnergy-Producing OrganellesWhole bloodMultidisciplinarySmall nuclear RNABiguanideQRRNA sequencingGenomicsMiddle AgedMetforminMetforminMitochondriaType 2 DiabetesNucleic acidsCholesterolSmall nucleolar RNAOncology030220 oncology & carcinogenesisMedicineFemaleCellular Structures and OrganellesTranscriptome Analysismedicine.drugResearch Articlemedicine.drug_classEndocrine DisordersScienceGastroenterology and HepatologyBioenergetics03 medical and health sciencesBreast CancermedicineGeneticsDiabetes MellitusHumansNon-coding RNAGlycemicAgedbusiness.industryGene Expression ProfilingType 2 Diabetes Mellitusnutritional and metabolic diseasesBiology and Life SciencesComputational BiologyCancers and NeoplasmsCell Biologymedicine.diseaseGenome AnalysisGene regulationGene expression profilingResearch and analysis methods030104 developmental biologyMolecular biology techniquesMetabolic DisordersRNAbusinessBlood Chemical AnalysisPLoS ONE
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Nonacidic Farnesoid X Receptor Modulators.

2017

As a cellular bile acid sensor, farnesoid X receptor (FXR) participates in regulation of bile acid, lipid and glucose homeostasis, and liver protection. Clinical results have validated FXR as therapeutic target in hepatic and metabolic diseases. To date, potent FXR agonists share a negatively ionizable function that might compromise their pharmacokinetic distribution and behavior. Here we report the development and characterization of a high-affinity FXR modulator not comprising an acidic residue.

0301 basic medicineMalemedicine.drug_classPyridinesPeroxisome proliferator-activated receptorReceptors Cytoplasmic and NuclearATP-binding cassette transporterCholesterol 7 alpha-hydroxylase01 natural sciencesRats Sprague-Dawley03 medical and health sciencesStructure-Activity RelationshipDrug StabilityDrug DiscoverymedicineGlucose homeostasisAnimalsHumansPPAR alphaReceptorCholesterol 7-alpha-HydroxylaseATP Binding Cassette Transporter Subfamily B Member 11chemistry.chemical_classificationBile acid010405 organic chemistryChemistryHEK 293 cellsImidazolesMembrane Transport ProteinsHep G2 Cells0104 chemical sciencesMolecular Docking SimulationZolpidem030104 developmental biologyHEK293 CellsBiochemistryMolecular MedicineFarnesoid X receptorATP-Binding Cassette TransportersSterol Regulatory Element Binding Protein 1HeLa CellsJournal of medicinal chemistry
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Lysosomal acid lipase deficiency: Expanding differential diagnosis.

2016

The differential diagnoses for metabolic liver diseases may be challenging in clinical settings, which represents a critical issue for disorders such as lysosomal acid lipase deficiency (LAL-D). LAL-D is caused by deficient activity of the LAL enzyme, resulting in the accumulation of cholesteryl esters and triglycerides throughout the body, predominately in the liver, spleen, gastrointestinal tract, and blood vessel walls. LAL-D is a progressive, multi-organ disease with early mortality and significant morbidity characterized by a combination of hepatic dysfunction and dyslipidemia. Evidence suggests LAL-D may be substantially underdiagnosed or misdiagnosed, which is critical given that dis…

0301 basic medicineMalemedicine.medical_specialtyPathologyAdolescentEndocrinology Diabetes and MetabolismDiseaseLysosomal acid lipase deficiencyBiochemistryGastroenterologyDiagnosis Differential03 medical and health sciences0302 clinical medicineEndocrinologyInternal medicineGeneticsmedicineLysosomal storage diseaseHumansChildMolecular BiologyTriglyceridesNiemann-Pick DiseasesGaucher Diseasebusiness.industryWolman DiseaseInfantEnzyme replacement therapySterol Esterasemedicine.diseaseClinical trial030104 developmental biologyEarly DiagnosisSebelipase alfaDisease Progression030211 gastroenterology & hepatologyFemaleCholesterol EstersDifferential diagnosisbusinessDyslipidemiaMolecular genetics and metabolism
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Associations between cardiovascular disease, cancer, and very low high-density lipoprotein cholesterol in the REasons for Geographical and Racial Dif…

2018

AbstractAimsRelatively little is known about the health outcomes associated with very low plasma concentrations of high-density lipoprotein cholesterol (HDL-C) mainly because of the small numbers of individuals with such extreme values included in clinical trials. We, therefore, investigated the association between low and very low HDL-C concentration at baseline and incident all-cause-mortality, death from malignant disease (i.e. cancer), and with fatal or non-fatal incident coronary heart disease (CHD) in individuals from the Reasons for Geographical And Racial Differences in Stroke (REGARDS) study.Methods and resultsAnalysis was based on 21 751 participants from the REGARDS study who wer…

0301 basic medicineMalemedicine.medical_specialtyTime FactorsPhysiologyDown-RegulationCoronary Disease030204 cardiovascular system & hematologyRisk AssessmentWhite People03 medical and health sciences0302 clinical medicineSex FactorsRisk FactorsPhysiology (medical)Internal medicineCause of DeathNeoplasmsmedicineHumansLongitudinal StudiesStrokeCause of deathAgedDyslipidemiasCancer Death Ratebusiness.industryProportional hazards modelIncidence (epidemiology)IncidenceHazard ratioCholesterol HDLHealth Status DisparitiesMiddle AgedProtective Factorsmedicine.diseaseConfidence intervalUnited StatesResidual riskBlack or African AmericanStroke030104 developmental biologyFemaleCardiology and Cardiovascular MedicinebusinessBiomarkersCardiovascular research
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Infant Formula Feeding Increases Hepatic Cholesterol 7α Hydroxylase (CYP7A1) Expression and Fecal Bile Acid Loss in Neonatal Piglets.

2018

BACKGROUND: During the postnatal feeding period, formula-fed infants have higher cholesterol synthesis rates and lower circulating cholesterol concentrations than their breastfed counterparts. Although this disparity has been attributed to the uniformly low dietary cholesterol content of typical infant formulas, little is known of the underlying mechanisms associated with this altered cholesterol metabolism phenotype. OBJECTIVE: We aimed to determine the molecular etiology of diet-associated changes in early-life cholesterol metabolism with the use of a postnatal piglet feeding model. METHODS: Two-day-old male and female White-Dutch Landrace piglets were fed either sow milk (Sow group) or d…

0301 basic medicineMalemedicine.medical_specialtymedicine.drug_classSwineMedicine (miscellaneous)030209 endocrinology & metabolismCholesterol 7 alpha-hydroxylaseReal-Time Polymerase Chain ReactionGene Expression Regulation EnzymologicBile Acids and Salts03 medical and health scienceschemistry.chemical_compoundFecesRandom Allocation0302 clinical medicineBlood serumInternal medicinemedicineAnimalsHumansCholesterol 7-alpha-HydroxylaseEnterohepatic circulationNutrition and DieteticsBile acidCholesterolReverse Transcriptase Polymerase Chain ReactionInfantFGF19Infant Formula030104 developmental biologyEndocrinologyMilkchemistryInfant formulaAnimals NewbornLiverFemaleSoybeansNutrient Physiology Metabolism and Nutrient-Nutrient InteractionsBreast feedingThe Journal of nutrition
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Influence of endogenous glucagon-like peptide-2 on lipid disorders in mice fed a high-fat diet

2016

Aim: The purpose of the present study was to investigate the influence of endogenous glucagon-like peptide-2 (GLP-2) on lipid profile in mice fed a standard diet (STD) or a high-fat diet (HFD). Materials and methods: HFD- and age-matched STD mice were injected once a day with GLP-2 (3-33), a GLP-2 receptor (GLP-2R) antagonist, or vehicle for 4 weeks. Results: HFD mice displayed increased intrahepatic lipid concentration and hepatic steatosis and higher plasma concentrations of cholesterol, LDL, AST, and ALT than STD mice. No difference was observed in lipid fecal elimination. In STD mice, the chronic treatment with GLP-2 (3-33) did not affect any parameter, while in HFD mice, it enhanced pl…

0301 basic medicineMalemedicine.medical_specialtyobesityEndogenyBiologyDiet High-FatliverSettore BIO/09 - Fisiologia03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineInsulin resistanceEndocrinologyMetabolic DiseaseslipidInternal medicineinsulin resistancemedicineGlucagon-Like Peptide 2AnimalsReceptormedicine.diagnostic_testCholesterolSettore BIO/16 - Anatomia Umanadigestive oral and skin physiologyAntagonistGeneral Medicinemedicine.diseaseGlucagon-like peptide-2LipidsPeptide FragmentsMice Inbred C57BL030104 developmental biologyEndocrinologychemistrylipids (amino acids peptides and proteins)030211 gastroenterology & hepatologySteatosisLipid profileGLP-2hormones hormone substitutes and hormone antagonists
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Diversity of Sterol Composition in Tunisian Pistacia lentiscus Seed Oil

2016

International audience; Pistacia lentiscus L. seed oil is used in some Mediterranean forest area for culinary and medicinal purposes. In this study, we aim to examine, for the first time, the effect of growing area on sterol content of Pistacia lentiscus seed oil. Fruits were harvested from 13 different sites located in northern and central Tunisia. Gas chromatography-flame-ionization detection (GC-FID) was used to quantify sterols and gas chromatography/mass spectrometry (GC/MS) was used to identify them. The major sterol identified was b-sitosterol with a value ranging from 854.12 to 1224.09 mg/kg of oil, thus making up more than 54% of the total sterols. The other two main sterols were c…

0301 basic medicineMediterranean climateChromatography GasTunisiasunflower[ SDV.AEN ] Life Sciences [q-bio]/Food and NutritionMolecular ConformationphytosterolsBioengineeringnetherlandscancer riskBiochemistryMass Spectrometry03 medical and health scienceschemistry.chemical_compound0404 agricultural biotechnologyfoodsPlant OilsMolecular BiologyDiversity030109 nutrition & dieteticsbiologyPhytosterol04 agricultural and veterinary sciencesGeneral ChemistryGeneral Medicinefruitbiology.organism_classification040401 food scienceSunflowerSterolHorticultureSterolschemistryPistacia lentiscusPistaciaSeedsCycloartenolMolecular MedicineComposition (visual arts)lipids (amino acids peptides and proteins)Gas chromatographyaccumulationdiet[SDV.AEN]Life Sciences [q-bio]/Food and NutritionSeed oilPistacia lentiscus
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