Search results for "DIO"

showing 10 items of 27885 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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Mild Parkinsonian Signs in a Hospital-based Cohort of Mild Cognitive Impairment Types: A Cross-sectional Study

2018

Background:Mild Parkinsonian Signs (MPS) have been associated with Mild Cognitive Impairment (MCI) types with conflicting results.Objective:To investigate the association of individual MPS with different MCI types using logistic ridge regression analysis, and to evaluate for each MCI type, the association of MPS with caudate atrophy, global cerebral atrophy, and the topographical location of White Matter Hyperintensities (WMH), and lacunes.Methods:A cross-sectional study was performed among 1,168 subjects with different types of MCI aged 45-97 (70,52 ± 9,41) years, who underwent brain MRI. WMH were assessed through two visual rating scales. The number and location of lacunes were also rated…

0301 basic medicineApolipoprotein EMalemedicine.medical_specialtyMild parkinsonian signsbehavioral disciplines and activitiesCohort Studies03 medical and health sciencesLateral ventricles0302 clinical medicineAtrophyParkinsonian DisordersRating scaleInternal medicinemental disordersmedicineDementiaHumansCognitive Dysfunctioncaudate atrophyProspective cohort studyAgedglobal cerebral atrophyCerebral atrophyAged 80 and overbusiness.industryMiddle Agedwhite matter hyperintensitiesmedicine.diseaseHyperintensitynervous system diseases030104 developmental biologyCross-Sectional StudiesNeurologyCardiologyFemaleNeurology (clinical)business030217 neurology & neurosurgery
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Proteases, Protease-Activated Receptors, and Atherosclerosis

2018

Coagulation activation by the TF (tissue factor) pathway plays pivotal roles in triggering platelets and precipitating acute coronary syndromes. Although dual antiplatelet therapy is effective in secondary cardiovascular prevention, combining platelet antagonism with low-dose aspirin and the oral coagulation FXa antagonist rivaroxaban has a synergistic clinical benefit over monotherapy in preventing the composite outcome of cardiovascular death, stroke, or myocardial infarction.1 It is, therefore, of considerable interest to understand the roles of coagulation proteases and their cell signaling effects in the development of atherosclerosis and vascular inflammation. Acute thrombosis in anim…

0301 basic medicineApolipoprotein EProteasesReceptors Proteinase-Activated030204 cardiovascular system & hematologyArticleMice03 medical and health sciencesTissue factor0302 clinical medicineThrombinEndopeptidasesAnimalsReceptor PAR-2MedicinePlateletbusiness.industryArteriosclerosisAtherosclerosismedicine.diseaseThrombosis030104 developmental biologyCoagulationCancer researchCardiology and Cardiovascular MedicinebusinessPeptide Hydrolasesmedicine.drugArteriosclerosis, Thrombosis, and Vascular Biology
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Myeloid-Specific Deletion of Diacylglycerol Lipase α Inhibits Atherogenesis in ApoE-Deficient Mice

2016

BACKGROUND:The endocannabinoid 2-arachidonoylglycerol (2-AG) is a known modulator of inflammation. Despite its high concentration in vascular tissue, the role of 2-AG in atherogenesis has not yet been examined. METHODS:ApoE-deficient mice were sublethally irradiated and reconstituted with bone marrow from mice with a myeloid-specific knockout of the 2-AG synthesising enzyme diacylglycerol lipase α (Dagla) or control bone marrow with an intact 2-AG biosynthesis. After a cholesterol-rich diet for 8 weeks, plaque size and plaque morphology were examined in chimeric mice. Circulating inflammatory cells were assessed by flow cytometry. Aortic tissue and plasma levels of endocannabinoids were mea…

0301 basic medicineApolipoprotein Emedicine.medical_specialtyMyeloidDiacylglycerol lipaselcsh:MedicineInflammationBlood Pressure030204 cardiovascular system & hematologyReceptor Cannabinoid CB203 medical and health sciencesMice0302 clinical medicineApolipoproteins EHeart RateSuperoxidesInternal medicinemedicineAnimalsMyeloid Cellslcsh:ScienceReceptorVascular tissueMice KnockoutLipoprotein lipaseMultidisciplinarybiologyMacrophageslcsh:RAtherosclerosisEndocannabinoid systemPlaque AtheroscleroticLipoprotein Lipase030104 developmental biologymedicine.anatomical_structureEndocrinologyBiochemistrybiology.proteinlcsh:Qlipids (amino acids peptides and proteins)medicine.symptomResearch ArticlePLoS ONE
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Disruption of the CCL1-CCR8 axis inhibits vascular Treg recruitment and function and promotes atherosclerosis in mice

2019

The CC chemokine 1 (CCL1, also called I-309 or TCA3) is a potent chemoattractant for leukocytes that plays an important role in inflammatory processes and diseases through binding to its receptor CCR8. Here, we investigated the role of the CCL1-CCR8 axis in atherosclerosis. We found increased expression of CCL1 in the aortas of atherosclerosis-prone fat-fed apolipoprotein E (Apoe)-null mice; moreover, in vitro flow chamber assays and in vivo intravital microscopy demonstrated an essential role for CCL1 in leukocyte recruitment. Mice doubly deficient for CCL1 and Apoe exhibited enhanced atherosclerosis in aorta, which was associated with reduced plasma levels of the anti-inflammatory interle…

0301 basic medicineApolipoprotein Emedicine.medical_specialtyRegulatory T cellCCL1030204 cardiovascular system & hematologyCCR8T-Lymphocytes RegulatoryReceptors CCR8Chemokine CCL1Mice03 medical and health sciencesApolipoproteins ETh2 Cells0302 clinical medicineInternal medicineLeukocytesmedicineSplenocyteAnimalsMolecular BiologyInflammationMice KnockoutChemistryTh1 CellsAtherosclerosisInterleukin-10Mice Inbred C57BLTregInterleukin 10030104 developmental biologyEndocrinologymedicine.anatomical_structureIL-10CytokinesCardiology and Cardiovascular MedicineCCR8Intravital microscopyCCL1LipoproteinJournal of Molecular and Cellular Cardiology
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PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia

2020

Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory neurons and spinocerebellar tracts, cardiomyopathy, and increased incidence in diabetes. The underlying pathophysiological mechanism of FRDA, driven by a significantly decreased expression of frataxin (FXN), involves increased oxidative stress, reduced activity of enzymes containing iron‑sulfur clus-ters (ISC), defective energy production, calcium dyshomeostasis, and impaired mitochondrial biogenesis, leading to mitochondrial dysfunction. The peroxisome proliferator-activated receptor gamma (PPARγ) is a ligand-activated transcriptional factor playing a key role in mito…

0301 basic medicineAtaxiaCell SurvivalCaspase 3PPAR agonistlcsh:RC321-57103 medical and health sciencesMice0302 clinical medicineIron-Binding ProteinsmedicineNeuritesAnimalsHumansMyocytes CardiacNeurodegenerationDorsal root ganglia neuronslcsh:Neurosciences. Biological psychiatry. NeuropsychiatryMembrane Potential MitochondrialNeuronsCardiomyocytesbiologyChemistryFrataxinNeurodegenerationCalpainLipid DropletsPeroxisomemedicine.diseaseCell biologyMitochondriaRatsPPAR gamma030104 developmental biologyNeurologyMitochondrial biogenesisFriedreich AtaxiaFrataxinbiology.proteinThiazolidinedionesmedicine.symptomMitochondrial function030217 neurology & neurosurgery
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Effect of chronic exercise on myocardial electrophysiological heterogeneity and stability. Role of intrinsic cholinergic neurons: A study in the isol…

2018

[EN] A study has been made of the effect of chronic exercise on myocardial electrophysiological heterogeneity and stability, as well as of the role of cholinergic neurons in these changes. Determinations in hearts from untrained and trained rabbits on a treadmill were performed. The hearts were isolated and perfused. A pacing electrode and a recording multielectrode were located in the left ventricle. The parameters determined during induced VF, before and after atropine (1 mu M), were: fibrillatory cycle length (VV), ventricular functional refractory period (FRPVF), normalized energy (NE) of the fibrillatory signal and its coefficient of variation (CV), and electrical ventricular activatio…

0301 basic medicineAtropineMaleRefractory Period ElectrophysiologicalRefractory periodPhysiology030204 cardiovascular system & hematologyBiochemistryRunningTissue Culture Techniques0302 clinical medicineAnimal CellsMuscarinic acetylcholine receptorMedicine and Health SciencesMedicinePublic and Occupational HealthTreadmillMammalsNeuronsMultidisciplinaryQREukaryotaHeartNeurochemistryNeurotransmittersAnimal ModelsSports ScienceCardiovascular physiologyElectrophysiologyAtropineChemistrymedicine.anatomical_structureExperimental Organism SystemsVentricular FibrillationPhysical SciencesVertebratesCardiologyLeporidsMedicineRabbitsCellular TypesAnatomyArrhythmiamedicine.drugResearch Articlemedicine.medical_specialtyScienceCholinergicsCardiologyMuscarinic AntagonistsResearch and Analysis MethodsTECNOLOGIA ELECTRONICA03 medical and health sciencesAlkaloidsInternal medicineAnimalsCholinergic neuronSports and Exercise MedicineExercisebusiness.industryChemical CompoundsOrganismsParasympatholyticsBiology and Life SciencesCell BiologyPhysical ActivityElectrophysiology030104 developmental biologyVentriclePhysical FitnessCellular NeuroscienceAmniotesAnimal StudiesCardiovascular AnatomybusinessNeuroscience
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AMD3100: A Versatile Platform for CXCR4 Targeting 68 Ga-Based Radiopharmaceuticals

2016

International audience; CXCR4 is a G protein-coupled receptor (GPCR), which is overexpressed in numerous diseases, particularly in multiple cancers. Therefore, this receptor represents a valuable target for imaging and therapeutic purposes. Among the different approaches, which were developed for CXCR4 imaging, a CXCR4 antagonist biscyclam system (AMD3100, also called Mozobil), currently used in the clinic for the mobilization of hematopoietic stem cells, was radiolabeled with different radiometals such as 62Zn, 64Cu, 67Ga, or 99mTc. However, cyclam is not an ideal chelator for most of these radiometals, and could lead to the release of the radionuclide in vivo. In the current study, a new …

0301 basic medicineBenzylaminesReceptors CXCR4Biomedical EngineeringPharmaceutical ScienceGallium Radioisotopes[SDV.CAN]Life Sciences [q-bio]/CancerBioengineeringPharmacologyCyclamsCXCR4[ CHIM ] Chemical Sciences[ SDV.CAN ] Life Sciences [q-bio]/Cancer03 medical and health scienceschemistry.chemical_compound0302 clinical medicineHeterocyclic CompoundsIn vivoCyclamHumans[CHIM]Chemical SciencesMoietyReceptorG protein-coupled receptorPharmacologyCXCR4CXCR4 antagonistChemistryOrganic Chemistry3. Good health030104 developmental biology030220 oncology & carcinogenesisCancer researchStem cellBiotechnology
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Innovation in cardiovascular disease in Europe with focus on arrhythmias: current status, opportunities, roadblocks, and the role of multiple stakeho…

2018

The European Heart Rhythm Association (EHRA) held an Innovation Forum in February 2016, to consider issues around innovation. The objective of the forum was to extend the innovation debate outside of the narrow world of arrhythmia specialists and cardiology in general, and seek input from all stakeholders including regulators, strategists, technologists, industry, academia, health providers, medical societies, payers, and patients. Innovation is indispensable for a continuing improvement in health care, preferably at higher efficacy and lower costs. It requires people who have been trained in a good scientific environment, high-quality research for achieving ground breaking inventions and t…

0301 basic medicineBig Datamedia_common.quotation_subjectBig dataBasic scienceContext (language use)Disease030204 cardiovascular system & hematologyArrhythmias03 medical and health sciences0302 clinical medicinePhysiology (medical)Health careDevicesGeneticsMedicineInnovationReimbursementPatentsmedia_commonbusiness.industryComputer modelsCertaintyPublic relationsPersonalized medicineReimbursementElectrophysiologyClinical trial030104 developmental biologyCardiology and Cardiovascular MedicinebusinessRisk assessmentHealthcare providers
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Distribution, redox state and (bio)geochemical implications of arsenic in present day microbialites of Laguna Brava, Salar de Atacama

2018

Understanding how microorganisms adapted to the high arsenic concentration present on early Earth requires understanding of the processes involved in the arsenic biogeochemical cycle operating in living microbial mats. To this end, we investigated a living microbial mat from Laguna Brava (Salar de Atacama, Chile), a hypersaline lake with high arsenic concentration, using an array of conventional geochemical techniques, such as X-ray diffraction, SEM-EDX and Confocal Laser Scanning Microscopy (CLSM), combined with state-of-the-art high resolution scanning imaging techniques, including X-ray micro-fluorescence (μXRF) and X-ray Absorption Near Edge Structure (XANES) mapping. This experimental …

0301 basic medicineBiogeochemical cycleMicroorganism030106 microbiologyOtras Ciencias de la Tierra y relacionadas con el Medio Ambientechemistry.chemical_elementSynchrotron-based X-ray imagingArsenicCiencias de la Tierra y relacionadas con el Medio AmbienteSYNCHROTRON-BASED X-RAY IMAGING03 medical and health sciencesStromatolitesMICROBIAL MATSGeochemistry and Petrology[SDU.STU.GC]Sciences of the Universe [physics]/Earth Sciences/GeochemistryMicrobial matsBiosignatureTrace metalMicrobial matBiosignatureArsenicComputingMilieux_MISCELLANEOUSBIOGEOCHEMICAL CYCLESGeologySorptionHypersaline lakeBiogeochemical cyclesBIOSIGNATURE030104 developmental biologychemistrySTROMATOLITES13. Climate actionEnvironmental chemistryARSENICGeologyCIENCIAS NATURALES Y EXACTAS
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