Search results for "medicina."

showing 10 items of 7057 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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β-amyloid wall deposit of temporal artery in subjects with spontaneous intracerebral haemorrhage.

2018

// Antonino Tuttolomondo 1 , Rosario Maugeri 4 , Elisabetta Orlando 2 , Giulio Giannone 2 , Francesco Ciccia 3 , Aroldo Rizzo 5 , Domenico Di Raimondo 1 , Francesca Graziano 4 , Rosaria Pecoraro 1 , Carlo Maida 1 , Irene Simonetta 1 , Anna Cirrincione 1 , Francesca Portelli 2 , Francesca Corpora 1 , Domenico Gerardo Iacopino 4 and Antonio Pinto 1 1 Internal Medicine and Stroke Care Ward, Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Palermo, Italy 2 Human Pathology Section, Human Pathology Section, Department of Health Sciences, University of Palermo, Palermo, Italy 3 Rheumathology Ward, Dipartimento Biomedico di Medicina Interna e Specialistica, Univers…

0301 basic medicineApolipoprotein Emedicine.medical_specialtySettore MED/09 - Medicina InternaGastroenterologysuperficial temporal artery03 medical and health sciences0302 clinical medicineβ amyloidInternal medicinemedicine.arteryBiopsymedicineβ-amyloid temporal arterymedicine.diagnostic_testbusiness.industrySettore MED/27 - Neurochirurgiaβ-amyloidintracerebral haemorrhageUniversity hospitalControl subjectsmedicine.diseaseSuperficial temporal artery030104 developmental biologyOncologyTemporal arteryCerebral amyloid angiopathybusiness030217 neurology & neurosurgeryResearch PaperCAAH
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Diabetes and Metabolism Disorders Medicinal Plants: A Glance at the Past and a Look to the Future 2018

2018

0301 basic medicineArticle SubjectTraditional medicinelcsh:Other systems of medicineBiologylcsh:RZ201-999medicine.diseaseMetabolism disorder03 medical and health sciencesEditorial030104 developmental biologyComplementary and alternative medicineDiabetes mellitusmedicineMedicinal plantsEvidence-Based Complementary and Alternative Medicine
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The European regulatory environment of rna-based vaccines

2016

A variety of different mRNA-based drugs are currently in development. This became possible, since major breakthroughs in RNA research during the last decades allowed impressive improvements of translation, stability and delivery of mRNA. This article focuses on antigen-encoding RNA-based vaccines that are either directed against tumors or pathogens. mRNA-encoded vaccines are developed both for preventive or therapeutic purposes. Most mRNA-based vaccines are directly administered to patients. Alternatively, primary autologous cells from cancer patients are modified ex vivo by the use of mRNA and then are adoptively transferred to patients. In the EU no regulatory guidelines presently exist t…

0301 basic medicineAutologous cellMessenger RNAVaccinesAnticancer vaccinationGenetically modified medicinal productsbusiness.industryGenetic enhancementmRNARNAGenetic therapy03 medical and health sciences030104 developmental biology0302 clinical medicineAntigenPreventive and therapeutic approachesInfectious disease (medical specialty)030220 oncology & carcinogenesisAdvanced therapy medicinal products (ATMP)ImmunologyMedicineVaccination against infectious diseasebusinessRegulatory framework in the EUEx vivo
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Global prevalence, treatment, and prevention of hepatitis B virus infection in 2016: a modelling study

2018

PubMed: 29599078

0301 basic medicineBIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences.HBsAgPediatricsDelphi TechniqueInfectious Disease TransmissionCHRONIC HBV INFECTION ; NATURAL-HISTORY ; FOLLOW-UP ; HBSAG ; CARRIERS ; AGE ; COUNTRIES ; DISEASE ; ANTIGEN ; COHORTddc:616.07Global Healthmedicine.disease_causeDISEASE0302 clinical medicinePrevalenceHBVChildddc:616Antiviral Agents/therapeutic useeducation.field_of_studyBIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti.Chronic/drug therapy/epidemiology/prevention & control/transmissionGastroenterologyHepatitis B Surface Antigens/bloodHepatitis BCARRIERSHepatitis B10219 Clinic for Gastroenterology and HepatologyChild Preschool030211 gastroenterology & hepatologyViral hepatitisViral loadCOUNTRIESAdultmedicine.medical_specialtyHepatitis B vaccineANTIGENPopulation610 Medicine & healthAntiviral AgentsMass VaccinationHepatology; Gastroenterology03 medical and health sciencesHepatitis B ChronicHBSAGAGESDG 3 - Good Health and Well-beingmedicineHumansCOHORT2715 GastroenterologyPreschooleducationDisease burdenHepatitis B virusHepatitis B Surface AntigensHepatologybusiness.industryViral VaccinesNATURAL-HISTORYmedicine.diseaseInfectious Disease Transmission VerticalCHRONIC HBV INFECTIONVertical/prevention & control030104 developmental biology2721 HepatologyHuman medicineFOLLOW-UPbusiness
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Making sense of big data in health research: {T}owards an {EU} action plan

2016

Genome medicine 8(1), 71 (2016). doi:10.1186/s13073-016-0323-y

0301 basic medicineBiomedical ResearchDatabases FactualPREDICTIONComputer scienceBig data: Santé publique services médicaux & soins de santé [D22] [Sciences de la santé humaine]XXBioinformaticsBases de dadesSYSTEMS MEDICINE0302 clinical medicineINFORMATICSCultural diversityHealth careGenetics(clinical)030212 general & internal medicineGenetics (clinical)media_commonGenetics & HeredityExabyteCHALLENGESMacrodadesCANCER3. Good healthAction planMolecular MedicineErratumLife Sciences & BiomedicineMedical GeneticsOpinion: Public health health care sciences & services [D22] [Human health sciences]MedicinaInformation DisseminationMECHANISMS03 medical and health sciencesFUTUREJournal ArticleGeneticsmedia_common.cataloged_instanceHumansKNOWLEDGEEuropean UnionEuropean unionMolecular BiologyMedicinsk genetik0604 GeneticsScience & Technologybusiness.industryInformation DisseminationHealth Plan Implementation1103 Clinical SciencesCAREData scienceData sharing030104 developmental biologyUNDIAGNOSED DISEASES NETWORKbusiness
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Dry selection and wet evaluation for the rational discovery of new anthelmintics

2017

Helminths infections remain a major problem in medical and public health. In this report, atom-based 2D bilinear indices, a TOMOCOMD-CARDD (QuBiLs-MAS module) molecular descriptor family and linear discriminant analysis (LDA) were used to find models that differentiate among anthelmintic and non-anthelmintic compounds. Two classification models obtained by using non-stochastic and stochastic 2D bilinear indices, classified correctly 86.64% and 84.66%, respectively, in the training set. Equation 1(2) correctly classified 141(135) out of 165 [85.45%(81.82%)] compounds in external validation set. Another LDA models were performed in order to get the most likely mechanism of action of anthelmin…

0301 basic medicineBiophysicsNon-stochastic and stochastic atom-based bilinear indicesBilinear interpolationLDA-based QSAR modelQuBiLs-MAS module01 natural sciencesSet (abstract data type)03 medical and health sciencesMolecular descriptorStatisticsPhysical and Theoretical ChemistryMolecular BiologySelection (genetic algorithm)MathematicsFree and open source softwareTraining setTOMOCOMD-CARDD softwareExternal validationAnthelmintic activityAtom (order theory)Computational creeningCondensed Matter PhysicsLinear discriminant analysis0104 chemical sciencesIndazole010404 medicinal & biomolecular chemistry030104 developmental biologyLead generationMolecular Physics
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Mast cells contribute to autoimmune diabetes by releasing interleukin-6 and failing to acquire a tolerogenic IL-10+ phenotype

2017

Mast cells (MCs) are innate immune cells that exert positive and negative immune modulatory functions capable to enhance or limit the intensity and/or duration of adaptive immune responses. Although MCs are crucial to regulate T cell immunity, their action in the pathogenesis of autoimmune diseases is still debated. Here we demonstrate that MCs play a crucial role in T1D pathogenesis so that their selective depletion in conditional MC knockout NOD mice protects them from the disease. MCs of diabetic NOD mice are overly inflammatory and secrete large amounts of IL-6 that favors differentiation of IL-17-secreting T cells at the site of autoimmunity. Moreover, while MCs of control mice acquire…

0301 basic medicineBlood GlucoseAutoimmune diabeteAutoimmunityNodmedicine.disease_causeT-Lymphocytes RegulatoryAutoimmunityImmune toleranceSettore MED/13 - EndocrinologiaMiceAutoimmune diabetes0302 clinical medicineMice Inbred NODImmunology and AllergyNOD miceMice KnockoutInterleukin-17Forkhead Transcription FactorsFlow CytometryImmunohistochemistryhumanitiesInterleukin-10Interleukin 10Tumor necrosis factor alphaImmunologySettore MED/50 - Scienze Tecniche Mediche ApplicateMice TransgenicLaser Capture MicrodissectionReal-Time Polymerase Chain Reactionbehavioral disciplines and activities03 medical and health sciencesIslets of LangerhansImmune systemChymasesmedicineAnimalsInflammationInnate immune systembusiness.industryInterleukin-6Immune toleranceSettore MED/46 - Scienze Tecniche di Medicina di LaboratorioAutoimmune diabetes; Immune tolerance; Interleukin-10; Interleukin-6; Mast cells030104 developmental biologyDiabetes Mellitus Type 1ImmunologyMast cellsTh17 CellsMast cells; Autoimmune diabetes; Interleukin-6; Immune tolerance; Interleukin-10business030215 immunology
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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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AKT3 Expression in Mesenchymal Colorectal Cancer Cells Drives Growth and Is Associated with Epithelial-Mesenchymal Transition

2021

Simple Summary Colorectal cancer can be subdivided into four distinct subtypes that are characterised by different clinical features and responses to therapies currently used in the clinic to treat this disease. One of those subtypes, called CMS4, is associated with a worse prognosis and poor response to therapies compared to other subtypes. We therefore set out to explore what proteins are differentially expressed and used in CMS4 to find potential new targets for therapy. We found that protein AKT3 is highly expressed in CMS4, and that active AKT3 inhibits a protein that stalls growth of cancer cells (p27KIP1). We can target AKT3 with inhibitors which leads to strongly reduced growth of c…

0301 basic medicineCancer ResearchColorectal cancergrowthBiologylcsh:RC254-282AKT3Article03 medical and health sciences0302 clinical medicinemedicinemesenchymal CRCEpithelial–mesenchymal transitionAKT3CMSMesenchymal stem cellCell cyclemedicine.diseaselcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPhenotypeGene expression profiling030104 developmental biologyOncology030220 oncology & carcinogenesisCancer cellCancer researchSettore MED/46 - Scienze Tecniche Di Medicina Di LaboratorioCancers
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