Search results for "Markers"

showing 10 items of 3115 documents

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

2017

Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major…

0301 basic medicineApolipoprotein ECandidate geneSettore MED/09 - Medicina InternaDatabases FactualApolipoprotein BDNA Mutational AnalysisFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityPCSK90302 clinical medicineRisk FactorsReceptorsGeneticsHomozygoteAutosomal dominant traitPathogenic variantsGeneral MedicinePrognosisAPOB; Familial hypercholesterolemia; LDLR; PCSK9; Pathogenic variantsCholesterolPhenotypeItalyAutosomal Recessive HypercholesterolemiaApolipoprotein B-100lipids (amino acids peptides and proteins)Proprotein Convertase 9APOBCardiology and Cardiovascular MedicinePreliminary DataGenetic MarkersFamilial hypercholesterolemiaLDLRPCSK9APOBPathogenic variantsHeterozygoteFamilial hypercholesterolemiaBiologyPathogenic variantLDLHyperlipoproteinemia Type II03 medical and health sciencesDatabasesmedicineInternal MedicineHumansAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Internal Medicine; Cardiology and Cardiovascular MedicineGenetic Predisposition to DiseaseFactualPCSK9Settore MED/13 - ENDOCRINOLOGIAAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Cardiology and Cardiovascular Medicine; Internal Medicinemedicine.diseaseAtherosclerosis030104 developmental biologyLDLRReceptors LDLMutationbiology.proteinAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Apolipoprotein B-100; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Preliminary Data; Prognosis; Proprotein Convertase 9; Receptors LDL; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine
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AMG900 as novel inhibitor of the translationally controlled tumor protein

2020

Abstract Introduction Cancer is one of the leading causes of death worldwide. Classical cytotoxic chemotherapy exerts high side effects and low tumor selectivity. Translationally controlled tumor protein (TCTP) is a target for differentiation therapy, a promising, new therapeutic approach, which is expected to be more selective and less toxic than cytotoxic chemotherapy. The aim of the present investigation was to identify novel TCTP inhibitors. Methods We performed in silico screening and molecular docking using a chemical library of more than 31,000 compounds to identify a novel inhibitor of TCTP. We tested AMG900 in vitro for binding to TCTP by microscale thermophoresis and co-immunoprec…

0301 basic medicineApoptosisCell Cycle ProteinsToxicologyResting Phase Cell CycleFlow cytometry03 medical and health sciences0302 clinical medicineCyclin D1Differentiation therapyCell Line TumorNeoplasmsTranslationally-controlled tumor proteinBiomarkers TumormedicineHumansCyclin D3medicine.diagnostic_testbiologyChemistryG1 PhaseTumor Protein Translationally-Controlled 1General MedicineMolecular Docking SimulationBlot030104 developmental biologyProtein Biosynthesis030220 oncology & carcinogenesisCancer cellMCF-7 CellsCancer researchbiology.proteinPhthalazinesCyclin-dependent kinase 6Chemico-Biological Interactions
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FMF is not always "fever": from clinical presentation to "treat to target".

2020

AbstractFamilial Mediterranean Fever, a monogenic autoinflammatory disease secondary to MEFV gene mutations in the chromosome 16p13, is characterized by recurrent self-limiting attacks of fever, arthritis, aphthous changes in lips and/or oral mucosa, erythema, serositis. It is caused by dysregulation of the inflammasome, a complex intracellular multiprotein structure, commanding the overproduction of interleukin 1. Familial Mediterranean Fever can be associated with other multifactorial autoinflammatory diseases, as vasculitis and Behçet disease.Symptoms frequently start before 20 years of age and are characterized by a more severe phenotype in patients who begin earlier.Attacks consist of …

0301 basic medicineAutoinflammatory diseasemedicine.medical_specialtyCanakinumabAutoinflammatory diseasesArthritisFamilial Mediterranean feverDiseaseReviewGene mutationFamilial Mediterranean feverDiagnosis Differential03 medical and health sciences0302 clinical medicineMedicineHumansChild030203 arthritis & rheumatologybusiness.industryAmyloidosislcsh:RJ1-570lcsh:Pediatricsmedicine.diseaseMEFVDermatologyTubulin ModulatorsCanakinumab030104 developmental biologyPhenotypebusinessColchicineSerositisBiomarkersmedicine.drugItalian journal of pediatrics
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Quantitative and qualitative profiles of circulating monocytes may help identifying tuberculosis infection and disease stages

2017

Tuberculosis (TB) is one of the most important cause of morbidity and death among infectious diseases, and continuous efforts are needed to improve diagnostic tools and therapy. Previous published studies showed that the absolute cells number of monocytes or lymphocytes in peripheral blood or yet the ratio of monocytes to lymphocytes displayed the ability to predict the risk of active TB. In the present study we evaluated the ratio of monocytes to lymphocytes variation and we also analyzed the ex-vivo expression of CD64 on monocytes as tools to identify biomarkers for discriminating TB stages. Significant differences were found when the average ratio of monocytes to lymphocytes of active TB…

0301 basic medicineBacterial DiseasesMalelcsh:MedicineMycobacterium tuberculosiMonocyteMonocytesWhite Blood Cells0302 clinical medicineAnimal CellsMedicine and Health SciencesLymphocyteslcsh:ScienceImmune ResponseAged 80 and overMultidisciplinarybiologyMiddle Aged3. Good healthActinobacteriamedicine.anatomical_structureInfectious DiseasesPhenotypeAdolescent; Adult; Aged; Aged 80 and over; Biomarkers; Case-Control Studies; Female; Humans; Male; Middle Aged; Monocytes; Mycobacterium tuberculosis; Phenotype; Tuberculosis; Young Adult; Biochemistry Genetics and Molecular Biology (all); Agricultural and Biological Sciences (all)Biomarker (medicine)Tuberculosis Diagnosis and ManagementFemaleCellular TypesCase-Control StudieResearch ArticleHumanAdultTuberculosisAdolescentTuberculosiImmune CellsImmunologyMycobacterium tuberculosis03 medical and health sciencesYoung AdultTuberculosis diagnosisDiagnostic MedicinemedicineHumansTuberculosisAgedBlood CellsBiochemistry Genetics and Molecular Biology (all)Receiver operating characteristicBacteriabusiness.industryMonocytelcsh:RCase-control studyOrganismsBiology and Life SciencesMycobacterium tuberculosisCell BiologyBiomarkerbiology.organism_classificationmedicine.diseaseTropical DiseasesConfidence interval030104 developmental biologyAgricultural and Biological Sciences (all)Case-Control StudiesImmunologylcsh:QbusinessBiomarkers030215 immunology
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NLRP3 Inflammasome Biomarker-Could Be the New Tool for Improved Cardiometabolic Syndrome Outcome.

2020

Metabolomics, the research area studying chemical processes involving metabolites, finds its utility in inflammasome biomarker discovery, thus representing a novel approach for cardiometabolic syndrome pathogeny acknowledgements. Metabolite biomarkers discovery is expected to improve the disease evolution and outcome. The activation of abundantly expressed NLRP3 inflammasome represents the background process of the diabetes mellitus disturbances like hyperglycemia and insulin resistance, as well as for myocardial cell death and fibrosis, all of them being features characteristic for cardiometabolic syndrome. Many molecules like troponins, brain natriuretic protein (BNP), ST2/IL-33, C-reacti…

0301 basic medicineBiomarkers Cardiometabolic syndrome Inflammasome Metabolomics NLRP3 inflammasome Outcome Targeted therapyMyocarditisEndocrinology Diabetes and Metabolismmedicine.medical_treatmentReviewBioinformaticsBiochemistryTargeted therapy03 medical and health sciences0302 clinical medicineInsulin resistanceinflammasomeDiabetes mellitusmedicineMyocardial infarctionBiomarker discoveryMolecular Biologybusiness.industrybiomarkersInflammasomemedicine.diseasetargeted therapymetabolomicsNLRP3 inflammasome030104 developmental biology030220 oncology & carcinogenesisoutcomeBiomarker (medicine)cardiometabolic syndromebusinessmedicine.drugMetabolites
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Lipid peroxidation as measured by chromatographic determination of malondialdehyde. Human plasma reference values in health and disease

2021

Free radicals and oxidants are involved in physiological signaling pathways, although an imbalance between pro-oxidant and anti-oxidant systems in favor of the former leads to major biomolecular damage. This is the so-called oxidative stress, a complex process that affects us all and is responsible for the development of many diseases. Lipids are very sensitive to oxidant attack and to-date, malondialdehyde (MDA), 4-hydroxy-2-nonenal (4-HNE) and F2-isoprostane are the main biomarkers for lipid peroxidation assessment. They all derive from polyunsaturated fatty acids (PUFAs) either by enzyme-catalyzed reactions (physiological) or by non-enzyme reactions (pathological). The profile of PUFAs p…

0301 basic medicineBiophysicsDiseasemedicine.disease_causeBiochemistryLipid peroxidationPulmonary Disease Chronic Obstructive03 medical and health scienceschemistry.chemical_compoundReference ValuesMalondialdehydePhysiology (medical)Diabetes MellitusmedicineHumansExerciseMolecular BiologyChromatography High Pressure Liquidchemistry.chemical_classificationChromatographyFrailty030102 biochemistry & molecular biologyAge FactorsNeurodegenerative DiseasesMalondialdehydeOxidative Stress030104 developmental biologyBiochemistrychemistryHuman plasmaReference valuesBiomarker (medicine)Kidney DiseasesLipid PeroxidationSignal transductionBiomarkersOxidative stressPolyunsaturated fatty acidFree Radical Biology and Medicine
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Baseline metabolic disturbances and the twenty-five years risk of incident cancer in a Mediterranean population.

2016

Abstract Background and aims Obesity is predictive of metabolic syndrome (metS), type 2 diabetes, cardiovascular (CV) disease and cancer. The aim of the study is to assess the risk of incident cancer connected to obesity and metS in a Mediterranean population characterized by a high prevalence of obesity. Methods and results As many as 1133 subjects were enrolled in two phases and followed for 25 years (859 subjects) or 11 years (274 subjects) and incident cancer was registered in the follow-up period. Anthropometric measures and biochemical parameters were filed at baseline and evaluated as predictors of incident cancer by measuring hazards ratios (HR) using multivariate Cox parametric haz…

0301 basic medicineBlood GlucoseMaleSettore MED/09 - Medicina InternaTime FactorsMediterranean dietEpidemiologyEndocrinology Diabetes and MetabolismMedicine (miscellaneous)Type 2 diabetesDiet Mediterranean0302 clinical medicineRisk FactorsNeoplasmsPrevalenceCancerMetabolic Syndromeeducation.field_of_studyNutrition and DieteticsIncidence (epidemiology)IncidenceLipidMiddle AgedLipidsItalyCardiovascular Diseases030220 oncology & carcinogenesisArea Under CurveFemaleDiet HealthyCardiology and Cardiovascular Medicinemedicine.medical_specialtyPopulationRisk AssessmentDisease-Free Survival03 medical and health sciencesInternal medicinemedicineHumansObesityeducationAgedProportional Hazards ModelsRetrospective StudiesChi-Square Distributionbusiness.industryProportional hazards modelCancerProtective Factorsmedicine.diseaseObesity030104 developmental biologyEndocrinologyROC CurveMultivariate AnalysisMetabolic syndromeInsulin ResistancebusinessBiomarkersNutrition, metabolism, and cardiovascular diseases : NMCD
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Low level activity thresholds for changes in NMR biomarkers and genes in high risk subjects for type 2 diabetes

2017

AbstractOur objectives were to determine if there are quantitative associations between amounts and intensities of physical activities (PA) on NMR biomarkers and changes in skeletal muscle gene expressions in subjects with high risk for type 2 diabetes (T2D) performing a 3-month PA intervention. We found that PA was associated with beneficial biomarker changes in a factor containing several VLDL and HDL subclasses and lipids in principal component analysis (P = <0.01). Division of PA into quartiles demonstrated significant changes in NMR biomarkers in the 2nd - 4th quartiles compared to the 1st quartile representing PA of less than 2850 daily steps (P = 0.0036). Mediation analysis of PA-…

0301 basic medicineBlood GlucoseMaleVery low-density lipoprotein[SDV]Life Sciences [q-bio]prévention des maladieslcsh:MedicineAdipose tissueMuscle ProteinsType 2 diabetes030204 cardiovascular system & hematologyOverweight0302 clinical medicinemaladie cardiovasculairelcsh:ScienceComputingMilieux_MISCELLANEOUSBODY-WEIGHT CHANGEMultidisciplinaryMiddle AgedMagnetic Resonance Imaging[SDV] Life Sciences [q-bio]ADIPOSE-TISSUEBiomarker (medicine)SKELETAL-MUSCLEFemalemedicine.symptombiomarqueurINSULIN-RESISTANCE ATHEROSCLEROSISAutre (Sciences du Vivant)Adultmedicine.medical_specialtydiabète de type 2expression géniqueCarbohydrate metabolismALL-CAUSEArticle03 medical and health sciencesMedical researchLIPID-METABOLISMInternal medicineDiabetes mellitusmedicineAPOLIPOPROTEIN-D POLYMORPHISMHumansObesityNUCLEAR-MAGNETIC-RESONANCEMuscle SkeletalExercisebusiness.industryMORTALITYlcsh:RLipid metabolismsurpoidsLIPOPROTEIN PARTICLE-SIZEmedicine.disease030104 developmental biologyEndocrinologyPHYSICAL-ACTIVITYDiabetes Mellitus Type 2Gene Expression Regulationlcsh:QbusinessBiomarkers
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Novel molecular markers of cardiovascular disease risk in type 2 diabetes mellitus

2021

Diabetes represents the leading risk factor for the development of cardiovascular disease (CVD). Chronic hyperglycemia and/or acute post-prandial changes in blood glucose determine an increase in reactive oxygen species (ROS), which play a fundamental role in endothelial dysfunction and in the nuclear transport of pro-atherogenic transcription factors that activate the "inflammasome". In addition, the glycemic alteration favors the formation and stabilization of atherosclerotic plaque through the mechanism of non-enzymatic glycation of different molecules, with the establishment of the so-called "advanced glycosylation end products" (AGE). Laboratory information provided by the level of bio…

0301 basic medicineBlood GlucoseNovel biomarkersDisease030204 cardiovascular system & hematologyBioinformatics03 medical and health scienceschemistry.chemical_compound0302 clinical medicineGlycationRisk FactorsDiabetes mellitusType 2 diabetes mellitusMedicineHumansEndothelial dysfunctionRisk factorMolecular BiologyGlycemicInflammationGlycationbusiness.industryType 2 Diabetes Mellitusmedicine.diseaseCardiovascular risk030104 developmental biologychemistryDiabetes Mellitus Type 2Cardiovascular DiseasesOxidative stressMolecular MedicineAdvanced glycation end-productbusinessReactive Oxygen SpeciesBiomarkers
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Emerging insights on the biological impact of extracellular vesicle-associated ncRNAs in multiple Myeloma

2020

Increasing evidence indicates that extracellular vesicles (EVs) released from both tumor cells and the cells of the bone marrow microenvironment contribute to the pathobiology of multiple myeloma (MM). Recent studies on the mechanisms by which EVs exert their biological activity have indicated that the non-coding RNA (ncRNA) cargo is key in mediating their effect on MM development and progression. In this review, we will first discuss the role of EV-associated ncRNAs in different aspects of MM pathobiology, including proliferation, angiogenesis, bone disease development, and drug resistance. Finally, since ncRNAs carried by MM vesicles have also emerged as a promising tool for early diagnos…

0301 basic medicineBone diseaselcsh:QH426-470AngiogenesisReviewBiologyBiochemistry03 medical and health sciences0302 clinical medicineMultiple myelomaGeneticsmedicineNon-coding RNAMolecular BiologyMultiple myelomaRNAbiomarkersBiological activityExtracellular vesicleBiomarkermedicine.diseaseNon-coding RNAlcsh:Genetics030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisDrug resistanceCancer researchBone marrowprogressionExtracellular vesicleextracellular vesicles
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