Search results for " Cardiology"

showing 10 items of 242 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
researchProduct

Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

2017

Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationw…

0301 basic medicineCandidate geneGenetic testingSettore MED/09 - Medicina InternaDatabases FactualDNA Mutational AnalysisDiseaseFamilial hypercholesterolemia030204 cardiovascular system & hematology0302 clinical medicineDyslipidemias; Genetic testing; National network; Internal Medicine; Cardiology and Cardiovascular MedicineRisk FactorsProspective StudiesProgram DevelopmentProspective cohort studymedicine.diagnostic_testGeneral MedicinePrognosisCholesterolPhenotypeItalyCardiology and Cardiovascular MedicineGenetic Markersmedicine.medical_specialtyNational networkDyslipidemias; Genetic testing; National networkMEDLINEHyperlipoproteinemia Type II03 medical and health sciencesDatabasesInternal medicinemedicineInternal MedicineHumansGenetic Predisposition to DiseaseFactualGenetic testingRetrospective StudiesDyslipidemiasbusiness.industrySettore MED/13 - ENDOCRINOLOGIARetrospective cohort studymedicine.diseaseAtherosclerosisDyslipidemias; Genetic testing; National network; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Prognosis; Program Development; Prospective Studies; Retrospective Studies; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine030104 developmental biologyEndocrinologyDyslipidemiaGenetic markerMutationbusiness
researchProduct

Ticagrelor, but not clopidogrel, reduces arterial thrombosis via endothelial tissue factor suppression

2017

The P2Y12 antagonist ticagrelor reduces mortality in patients with acute coronary syndrome (ACS), compared with clopidogrel, and the mechanisms underlying this effect are not clearly understood. Arterial thrombosis is the key event in ACS; however, direct vascular effects of either ticagrelor or clopidogrel with focus on arterial thrombosis and its key trigger tissue factor have not been previously investigated.Methods and results: Human aortic endothelial cells were treated with ticagrelor or clopidogrel active metabolite (CAM) and stimulated with tumour necrosis factor-alpha (TNF-α); effects on procoagulant tissue factor (TF) expression and activity, its counter-player TF pathway inhibito…

0301 basic medicineMaleTicagrelorAdenosineTime FactorsPhysiology030204 cardiovascular system & hematology2737 Physiology (medical)0302 clinical medicineP2Y12AntithromboticCells CulturedClopidogrelReceptors Purinergic P2Y123. Good healthClopidogrelmedicine.anatomical_structureCoagulation10209 Clinic for CardiologyCardiologyCardiology and Cardiovascular MedicineTicagrelormedicine.drugBlood PlateletsAcute coronary syndromemedicine.medical_specialtyProteasome Endopeptidase ComplexTiclopidineEndotheliumDown-Regulation610 Medicine & health2705 Cardiology and Cardiovascular MedicineThromboplastinEquilibrative Nucleoside Transporter 103 medical and health sciencesTissue factorFibrinolytic AgentsPhysiology (medical)Internal medicinemedicineAnimalsHumanscardiovascular diseasesBlood Coagulationbusiness.industryTumor Necrosis Factor-alphaEndothelial CellsThrombosis1314 Physiologymedicine.diseaseMice Inbred C57BLDisease Models Animal030104 developmental biologyProteolysisPurinergic P2Y Receptor AntagonistsbusinessCarotid Artery InjuriesPlatelet Aggregation Inhibitors
researchProduct

Determinants of the Quality of Warfarin Control after Venous Thromboembolism and Validation of the SAMe-TT2-R2 Score: An Analysis of Hokusai-VTE.

2019

Background Time in therapeutic range (TTR) measures the quality of vitamin K antagonist (VKA) anticoagulation. In patients with atrial fibrillation, the dichotomized SAMe-TT2-R2 score (≥2 vs. < 2 points) can predict if adequate TTR is unlikely to be achieved. Aims We validated the SAMe-TT2-R2 score in patients with venous thromboembolism (VTE) randomized to the warfarin arm of the Hokusai-VTE trial. Patients and Methods A total of 3,874 patients were included in the primary analysis (day 31–180 from randomization). The efficacy and safety outcomes were symptomatic recurrent VTE and major or clinically relevant non-major bleeding. Results The rates of recurrent VTE and bleeding events we…

0301 basic medicineMalevitamin K antagonistEXTERNAL VALIDATIONTime FactorsVitamin KWarfarin/therapeutic use030204 cardiovascular system & hematologyTHERAPYSeverity of Illness Indexlaw.inventionchemistry.chemical_compound0302 clinical medicineRandomized controlled trialEdoxabanlawRecurrenceAtrial FibrillationVitamin K/antagonists & inhibitorsStrokeRISKAtrial fibrillationHematologyVenous ThromboembolismVitamin K antagonistMiddle Agedrisk assessment modelTIMEPREDICTSTreatment OutcomeAnticoagulants/therapeutic useResearch DesignANTICOAGULATION CONTROLFemaleLife Sciences & Biomedicinemedicine.drugHemorrhage/drug therapyAdultmedicine.medical_specialtyRandomizationmedicine.drug_classvenous thromboembolismHemorrhageRisk AssessmentSensitivity and SpecificityEDOXABAN03 medical and health sciencesDouble-Blind MethodVITAMIN-K ANTAGONISTSInternal medicinemedicineNONVALVULAR ATRIAL-FIBRILLATIONORAL ANTICOAGULANTHumansInternational Normalized RatioBlood CoagulationScience & Technologybusiness.industryquality of treatmentWarfarinAnticoagulantsmedicine.diseasewarfarinClinical trial030104 developmental biologyPeripheral Vascular DiseasechemistryBlood Coagulation/drug effectsAtrial Fibrillation/bloodCardiovascular System & CardiologyLinear ModelsWarfarinbusinessVenous Thromboembolism/drug therapyThrombosis and haemostasis
researchProduct

Role of the HIPPO pathway as potential key player in the cross talk between oncology and cardiology.

2021

The HIPPO pathway (HP) is a highly conserved kinase cascade that affects organ size by regulating proliferation, cell survival and differentiation. Discovered in Drosophila melanogaster to early 2000, it immediately opened wide frontiers in the field of research. Over the last years the field of knowledge on HP is quickly expanding and it is thought will offer many answers on complex pathologies. Here, we summarized the results of several studies that have investigated HP signaling both in oncology than in cardiology field, with an overview on future perspectives in cardiology research.

0301 basic medicineOncologymedicine.medical_specialtyCardiologyProtein Serine-Threonine KinasesCardiac regeneration03 medical and health sciences0302 clinical medicineInternal medicinemedicineAnimalsHumansHippo Signaling PathwayCardio oncologyCell survivalCell ProliferationHippo signaling pathwaybiologybusiness.industryHematologybiology.organism_classificationKinase cascade030104 developmental biologyDrosophila melanogasterOncologyCardiology fieldAnimals Cardiac development Cardiac regeneration Cardio-oncology Cardiology Cell Proliferation Drosophila melanogaster HIPPO signaling pathway Humans Protein Serine-Threonine Kinases030220 oncology & carcinogenesisCardiologyDrosophila melanogasterbusinessSignal TransductionCritical reviews in oncology/hematology
researchProduct

Efficacy and Safety of Zofenopril Versus Ramipril in the Treatment of Myocardial Infarction and Heart Failure: A Review of the Published and Unpublis…

2018

Zofenopril is a lipophilic, sulfhydryl group-containing angiotensin-converting enzyme (ACE)-inhibitor, characterized by wide tissue distribution, long duration of action, and pleiotropic effects on endothelial dysfunction. Its clinical efficacy and safety have been described in the four randomized controlled trials of the SMILE program, which globally enrolled more than 3600 patients in post-acute myocardial infarction (AMI) setting. The SMILE-4 study specifically selected patients with left ventricular dysfunction at admission, and compared the effects of zofenopril or ramipril in combination with acetylsalicylic acid (ASA). Zofenopril demonstrated its superiority over ramipril in reducing…

0301 basic medicineRamiprilmedicine.medical_specialtyCaptoprilPopulationMyocardial InfarctionCardiologyAngiotensin-Converting Enzyme InhibitorsHeart failureReviewAcute myocardial infarction030204 cardiovascular system & hematologylaw.inventionZofenopril03 medical and health scienceschemistry.chemical_compound0302 clinical medicineRandomized controlled trialDouble-Blind MethodRamiprillawInternal medicineAcute myocardial infarction; Angiotensin-converting enzyme inhibitors; Cardiology; Heart failure; Left ventricular dysfunction; Ramipril; Zofenopril; Pharmacology (medical)MedicineHumansPharmacology (medical)Myocardial infarctioneducationRandomized Controlled Trials as Topiceducation.field_of_studyLeft ventricular dysfunctionEjection fractionbusiness.industryGeneral Medicinemedicine.diseaseZofenopril030104 developmental biologyTreatment OutcomechemistryAngiotensin-converting enzyme inhibitorHeart failureCardiologyNumber needed to treatbusinessmedicine.drug
researchProduct

An overview of the molecular mechanisms underlying development and progression of bicuspid aortic valve disease

2019

Bicuspid aortic valve (BAV) is a common congenital heart malformation frequently associated with the development of aortic valve diseases and severe aortopathy, such as aortic dilatation, aneurysm and dissection. To date, different genetic loci have been identified in syndromic and non- syndromic forms of BAV. Among these, genes involved in the regulation of extracellular matrix remodelling, epithelial to mesenchymal transition and nitric oxide metabolism appear to be the main contributors to BAV pathogenesis. However, no- single gene model explains BAV inheritance, suggesting that more factors are simultaneously involved. In this regard, characteristic epigenetic and immunological profiles…

0301 basic medicineaneurysm; aortic dilatation; aortic stenosis; aortopathy; bicuspid aortic valve; NOTCH1Aortic stenosibicuspid aortic valveHeart malformationAortic DiseasesHeart Valve Diseasesaortopathy610 Medicine & healthDisease030204 cardiovascular system & hematologyBioinformatics2705 Cardiology and Cardiovascular Medicine11459 Center for Molecular CardiologyPathogenesis03 medical and health sciences0302 clinical medicineAneurysmBicuspid aortic valveNOTCH1Bicuspid Aortic Valve Disease1312 Molecular BiologymedicineSettore MED/05 - Patologia ClinicaAnimalsHumansEpithelial–mesenchymal transitionEpigeneticsMolecular BiologyAortic dilatationbusiness.industryaortic stenosisaortic dilatationmedicine.disease030104 developmental biologyAortic ValveaneurysmDisease Progressioncardiovascular systemCardiology and Cardiovascular MedicinebusinessJournal of Molecular and Cellular Cardiology
researchProduct

Unraveling the Molecular Mechanism of Action of Empagliflozin in Heart Failure With Reduced Ejection Fraction With or Without Diabetes

2019

Visual Abstract

0301 basic medicinelcsh:Diseases of the circulatory (Cardiovascular) systemmedicine.medical_specialtyCardiac & Cardiovascular Systemsempagliflozinheart failure030204 cardiovascular system & hematologySGLT2i sodium-glucose co-transporter 2 inhibitorHF heart failurePRECLINICAL RESEARCH03 medical and health sciences0302 clinical medicineDM diabetes mellitusDiabetes mellitusInternal medicinemedicineEmpagliflozinMI-HF post-infarct heart failureGlycemicScience & TechnologyEjection fractionbusiness.industryNHE sodium-hydrogen exchangerANN artificial neural networkmedicine.diseaseHFrEF HF with reduced ejection fractionBlockadeXIAPmachine learning030104 developmental biologyMechanism of actionlcsh:RC666-701Heart failureCardiovascular System & CardiologyCardiologyRNAseq RNA sequencingempagtiflozinmedicine.symptomCardiology and Cardiovascular MedicinebusinessLife Sciences & BiomedicineJACC: Basic to Translational Science
researchProduct

Takotsubo Syndrome: Impact of endothelial dysfunction and oxidative stress

2021

Takotsubo Syndrome (TTS) is characterized by a transient left ventricular dysfunction recovering spontaneously within days or weeks. Although the pathophysiology of TTS remains obscure, there is growing evidence suggesting TTS to be associated with increased production of reactive oxygen species (ROS), which may be involved in causing transient coronary and peripheral endothelial dysfunction leading to a transient impairment of myocardial contraction due to stunning (apical ballooning). Endothelial dysfunction is mainly caused by decreased vascular and myocardial nitric oxide bioavailability in response to increased ROS production. Accordingly, studies in humans and animal models demonstrat…

0301 basic medicinemedicine.medical_specialty1303 Biochemistry610 Medicine & healthSodium hydrosulfidemedicine.disease_causeBiochemistryNitric oxide03 medical and health scienceschemistry.chemical_compound2737 Physiology (medical)0302 clinical medicineSuperoxidesTakotsubo CardiomyopathyPhysiology (medical)Internal medicinemedicineAnimalsHumansEndothelial dysfunctionchemistry.chemical_classificationReactive oxygen speciesNADPH oxidasebiologySuperoxideNADPH OxidasesHydrogen PeroxideMalondialdehydemedicine.diseaseOxidative Stress030104 developmental biologyEndocrinologychemistry10209 Clinic for Cardiologybiology.proteinReactive Oxygen Species030217 neurology & neurosurgeryOxidative stressFree Radical Biology and Medicine
researchProduct

Crucial role for Nox2 and sleep deprivation in aircraft noise-induced vascular and cerebral oxidative stress, inflammation, and gene regulation

2018

Abstract Aims Aircraft noise causes endothelial dysfunction, oxidative stress, and inflammation. Transportation noise increases the incidence of coronary artery disease, hypertension, and stroke. The underlying mechanisms are not well understood. Herein, we investigated effects of phagocyte-type NADPH oxidase (Nox2) knockout and different noise protocols (around-the-clock, sleep/awake phase noise) on vascular and cerebral complications in mice. Methods and results C57BL/6j and Nox2 −/− (gp91phox −/−) mice were exposed to aircraft noise (maximum sound level of 85 dB(A), average sound pressure level of 72 dB(A)) around-the-clock or during sleep/awake phases for 1, 2, and 4 days. Adverse effec…

0301 basic medicinemedicine.medical_specialtyEndotheliumAircraft10208 Institute of NeuropathologyInflammation610 Medicine & health030204 cardiovascular system & hematologySystemic inflammationmedicine.disease_cause2705 Cardiology and Cardiovascular Medicine03 medical and health sciences0302 clinical medicineBasic ScienceVascular BiologyInternal medicineeNOS uncouplingmedicineHumansEndothelial dysfunctionEndothelial dysfunctionInflammationSystemic inflammationbusiness.industryEnvironmental stressorCerebral redox balancemedicine.diseaseEnvironmental stressorSleep deprivationNoiseSleep deprivationOxidative Stress030104 developmental biologymedicine.anatomical_structureEndocrinologyNADPH oxidase-derived oxidative stress570 Life sciences; biologymedicine.symptombusinessNoiseCardiology and Cardiovascular MedicineOxidative stressNoise exposure
researchProduct