Search results for "HC"

showing 10 items of 2361 documents

Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease

2019

AbstractNonalcoholic fatty liver disease (NAFLD) is a rising cause of hepatocellular carcinoma (HCC). We examined whether inherited pathogenic variants in candidate genes (n = 181) were enriched in patients with NAFLD-HCC. To this end, we resequenced peripheral blood DNA of 142 NAFLD-HCC, 59 NAFLD with advanced fibrosis, and 50 controls, and considered 404 healthy individuals from 1000 G. Pathogenic variants were defined according to ClinVar, likely pathogenic as rare variants predicted to alter protein activity. In NAFLD-HCC patients, we detected an enrichment in pathogenic (p = 0.024), and likely pathogenic variants (p = 1.9*10−6), particularly in APOB (p = 0.047). APOB variants were asso…

0301 basic medicineMaleCandidate geneApolipoprotein Blcsh:MedicineGastroenterologyLiver diseasechemistry.chemical_compound0302 clinical medicineNon-alcoholic Fatty Liver DiseaseRisk FactorsNonalcoholic fatty liver diseaseSequestosome-1 ProteinGenetic riskHCClcsh:ScienceMultidisciplinarybiologyLiver NeoplasmsMiddle Aged3. Good healthCholesterolHepatocellular carcinomaApolipoprotein B-100FemaleAged; Apolipoprotein B-100; Carcinoma Hepatocellular; Case-Control Studies; Cholesterol HDL; Female; Genetic Predisposition to Disease; Glial Cell Line-Derived Neurotrophic Factor Receptors; Humans; Liver Neoplasms; Male; Middle Aged; Non-alcoholic Fatty Liver Disease; Reproducibility of Results; Risk Factors; Sequestosome-1 Proteinmedicine.medical_specialtyCarcinoma HepatocellularGlial Cell Line-Derived Neurotrophic Factor ReceptorsHDLSettore BIO/18 - GENETICAdigestive systemArticle03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to DiseaseGeneAgedCholesterolbusiness.industrylcsh:RCarcinomaCholesterol HDLnutritional and metabolic diseasesReproducibility of ResultsHepatocellularmedicine.diseasedigestive system diseases030104 developmental biologychemistryNASH HCCCase-Control Studiesbiology.proteinlcsh:Qgeneticbusiness030217 neurology & neurosurgery
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Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.

2021

International audience; Background: Recent years have witnessed a considerable increase in clinical trials of new investigational agents for Fabry disease (FD). Several trials investigating different agents are currently in progress; however, lack of standardisation results in challenges to interpretation and comparison. To facilitate the standardisation of investigational programs, we have developed a common framework for future clinical trials in FD.Methods and findings: A broad consensus regarding clinical outcomes and ways to measure them was obtained via the Delphi methodology. 35 FD clinical experts from 4 continents, representing 3389 FD patients, participated in 3 rounds of Delphi p…

0301 basic medicineMaleDelphi TechniqueEndocrinology Diabetes and Metabolism[SDV]Life Sciences [q-bio]Delphi methodDisease030105 genetics & heredityKidneyBiochemistry0302 clinical medicineEndocrinologyClinical outcomesClinical Trials as TopicGlobosidesTrihexosylceramidesMiddle Aged3. Good healthClinical trialIsoenzymesTreatment OutcomeInclusion and exclusion criteriaSecondary Outcome MeasureFemaleAdultmedicine.medical_specialtyConsensusLysosomal storage disorders03 medical and health sciencesQuality of life (healthcare)Inherited metabolic disordersGeneticsmedicineHumansEnzyme Replacement TherapyIntensive care medicineMolecular BiologyFabry diseaseSphingolipidsbusiness.industryClinical study designmedicine.diseaseFabry diseaseClinical trialDelphi consensusalpha-GalactosidaseQuality of LifeFabry DiseaseGlycolipidsbusiness030217 neurology & neurosurgeryMolecular genetics and metabolism
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Predictors of Hepatitis B Surface Antigen Titers two decades after vaccination in a cohort of students and post-graduates of the Medical School at th…

2017

Introduction and objective. The introduction of a vaccine against hepatitis B virus (HBV) for newborn babies in Italy in 1991, extended to 12-year-old children for the first 12 years of application, has been a major achievement in terms of the prevention of HBV infection. The objective of this study was to analyse the long-term immunogenicity and effectiveness of HBV vaccination among healthcare students with different working seniorities. Materials and method. A cross-sectional observational study of undergraduate and postgraduate students attending the Medical School of the University of Palermo was conducted from January 2014 – July 2016. HBV serum markers were performed with commercial …

0301 basic medicineMaleHBsAgSettore MED/07 - Microbiologia E Microbiologia ClinicaStudents Medicalmedicine.disease_causeLogistic regressionCohort Studies0302 clinical medicine030212 general & internal medicineChildWaste Management and DisposalHBV infectionlcsh:Environmental sciencesSchools Medicallcsh:GE1-350Anti-HBs titreHepatitis BVaccinationCohortFemaleAdultmedicine.medical_specialtyHepatitis B virusAdolescent030106 microbiologyHBV infection HBV vaccination Anti-HBs titre Healthcare students postgraduate medical studentsHealthcare studentslcsh:Agriculture03 medical and health sciencesYoung AdultInternal medicinemedicineHumansHepatitis B VaccinesHepatitis B AntibodiesStudentsEcology Evolution Behavior and SystematicsHBV vaccinationHepatitis B virusHepatitis B Surface Antigensbusiness.industrySettore MED/44 - Medicina Del Lavorolcsh:SPublic Health Environmental and Occupational HealthOdds ratioConfidence intervalpostgraduate medical studentsCross-Sectional StudiesImmunologyObservational studybusinessBiomarkersFollow-Up Studies
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MICA-129 Dimorphism and Soluble MICA Are Associated With the Progression of Multiple Myeloma

2018

Natural killer (NK) cells are immune innate effectors playing a pivotal role in the immunosurveillance of multiple myeloma (MM) since they are able to directly recognize and kill MM cells. In this regard, among activating receptors expressed by NK cells, NKG2D represents an important receptor for the recognition of MM cells, being its ligands expressed by tumor cells, and being able to trigger NK cell cytotoxicity. The MHC class I-related molecule A (MICA) is one of the NKG2D ligands; it is encoded by highly polymorphic genes and exists as membrane-bound and soluble isoforms. Soluble MICA (sMICA) is overexpressed in the serum of MM patients, and its levels correlate with tumor progression. …

0301 basic medicineMaleModels MolecularProtein ConformationGenotypeImmunology and AllergyReceptorpredictive biomarkerOriginal ResearchAged 80 and overnatural killer cellsbiologyChemistryMiddle AgedImmunosurveillanceGene Expression Regulation NeoplasticKiller Cells Naturalmultiple myelomaNK Cell Lectin-Like Receptor Subfamily KDisease ProgressionFemaleNKG2D receptorProtein Bindinglcsh:Immunologic diseases. AllergyGenotypeImmunologyEnzyme-Linked Immunosorbent AssayMICA polymorphismImmunophenotyping03 medical and health sciencesStructure-Activity RelationshipImmune systemMHC class IHumansGenetic Predisposition to DiseaseAllelesGenetic Association StudiesAgedPolymorphism GeneticHistocompatibility Antigens Class INKG2DMolecular biologyMolecular Typingstomatognathic diseases030104 developmental biologyAmino Acid SubstitutionTumor progressionbiology.proteinmultiple myeloma natural killer cells NKG2D receptor MICA polymorphism predictive biomarkerGene polymorphismlcsh:RC581-607Frontiers in Immunology
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Myeloid Cells Restrict MCMV and Drive Stress- Induced Extramedullary Hematopoiesis through STAT1

2019

Cytomegalovirus (CMV) has a high prevalence worldwide, is often fatal for immunocompromised patients, and causes bone marrow suppression. Deficiency of signal transducer and activator of transcription 1 (STAT1) results in severely impaired antiviral immunity. We have used cell- type restricted deletion of Stat1 to determine the importance of myeloid cell activity for the defense against murine CMV (MCMV). We show that myeloid STAT1 limits MCMV burden and infection- associated pathology in the spleen but does not affect ultimate clearance of infection. Unexpectedly, we found an essential role of myeloid STAT1 in the induction of extramedullary hematopoiesis (EMH). The EMH- promoting function…

0301 basic medicineMaleMuromegalovirusMyeloidIFN-II receptorReceptor Interferon alpha-betamonocytes signal transducer and activator of transcription Herpesviridae IFN-I receptor IFN-II receptor L-27 receptor TLR9 agonistmedicine.disease_causeVirus Replication0302 clinical medicineTLR9 agonistMyeloid CellsSTAT1Cells CulturedHerpesviridaeReceptors Interferonsignal transducer and activator of transcriptionvirus diseasesIL-27 receptorHerpesviridae InfectionsExtramedullary hematopoiesisKiller Cells NaturalHaematopoiesismedicine.anatomical_structureSTAT1 Transcription FactorBone marrow suppressionHematopoiesis ExtramedullaryFemalemonocytesBIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti.SpleenBiologyGeneral Biochemistry Genetics and Molecular BiologyHerpesviridaeArticle03 medical and health sciencesStress PhysiologicalmedicineAnimalsBIOMEDICINE AND HEALTHCARE. Basic Medical Sciences.Receptors Interleukinmedicine.diseaseMice Inbred C57BL030104 developmental biologyImmunologySTAT proteinbiology.protein030217 neurology & neurosurgeryGene DeletionSpleenIFN-I receptor
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Microevolution of bank voles (Myodes glareolus) at neutral and immune-related genes during multiannual dynamic cycles: consequences for Puumala hanta…

2017

ABSTRACTUnderstanding how host dynamics, including variations of population size and dispersal, may affect the epidemiology of infectious diseases through ecological and evolutionary processes is an active research area. Here we focus on a bank vole (Myodes glareolus) metapopulation surveyed in Finland between 2005 and 2009. Bank vole is the reservoir of Puumala hantavirus (PUUV), the agent of nephropathia epidemica (NE, a mild form of hemorrhagic fever with renal symptom) in humans.M glareoluspopulations experience multiannual density fluctuations that may influence the level of genetic diversity maintained in bank voles, PUUV prevalence and NE occurrence. We examine bank vole metapopulati…

0301 basic medicineMaleMyxovirus Resistance Proteins0106 biological sciencesSELECTIONPopulation geneticsPopulation DynamicsGene ExpressionPopulation geneticsNATURAL-POPULATIONPuumala virus01 natural sciencesRodent DiseasesNephropathia epidemicaFinlandGeneticsMolecular Epidemiology0303 health scienceseducation.field_of_studyRodentArvicolinaeMicroevolutionBiological EvolutionBank voleInfectious DiseasesMHC DIVERSITYHemorrhagic Fever with Renal SyndromeHost-Pathogen Interactions[SDV.IMM]Life Sciences [q-bio]/ImmunologyFemaleDisease SusceptibilityDensity fluctuationsMicrobiology (medical)Gene FlowPopulationMetapopulationBiologyMicrobiology010603 evolutionary biology03 medical and health sciencesGenetic driftGeneticsmedicineImmunogeneticsAnimalsHumansPOPULATION-STRUCTUREAdaptationeducationMolecular BiologyEcology Evolution Behavior and SystematicsDisease Reservoirs030304 developmental biologyTOLL-LIKE RECEPTORSHost-pathogen interactionPolymorphism Genetic[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]MX2 PROTEINGenetic DriftNECROSIS-FACTOR-ALPHADENSITY-FLUCTUATIONSmedicine.diseasebiology.organism_classificationEUROPEAN ROE DEERToll-Like Receptor 4030104 developmental biologyToll-Like Receptor 7Evolutionary biology3121 General medicine internal medicine and other clinical medicineVoleRODENT HOST[SDV.EE.IEO]Life Sciences [q-bio]/Ecology environment/Symbiosis
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Field evaluation of a rapid antigen test (Panbio™ COVID-19 Ag Rapid Test Device) for COVID-19 diagnosis in primary healthcare centres.

2021

Abstract Objectives To our knowledge no previous study has assessed the performance of a rapid antigen diagnostic immunoassay (RAD) conducted at the point of care (POC). We evaluated the Panbio™ COVID-19 Ag Rapid Test Device for diagnosis of coronavirus 2019 disease (COVID-19) in symptomatic patients (n = 412) attending primary healthcare centres. Methods RAD was performed immediately after sampling following the manufacturer's instructions (reading at 15 min). RT-PCRs were carried out within 24 h of specimen collection. Samples displaying discordant results were processed for culture in Vero E6 cells. Presence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in cell cultures…

0301 basic medicineMaleRapid antigen detection test (RAD)medicine.disease_causeAmbulatory Care Facilities0302 clinical medicineNasopharynx030212 general & internal medicineChildAntigens ViralCoronavirusAged 80 and overImmunoassaymedicine.diagnostic_testGeneral MedicineMiddle AgedEarly diagnosisResearch NoteInfectious DiseasesSpecimen collectionRapid antigen testPoint-of-Care TestingCOVID-19 Nucleic Acid TestingChild PreschoolFemaleMicrobiology (medical)Adultmedicine.medical_specialtyCoronavirus disease 2019 (COVID-19)AdolescentPoint-of-care testing030106 microbiologySensitivity and SpecificityCOVID-19 Serological Testing03 medical and health sciencesYoung AdultAntigenInternal medicinemedicineHumansPoint of careAgedbusiness.industrySARS-CoV-2COVID-19InfantImmunoassayReagent Kits DiagnosticbusinessPrimary healthcare centreClinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
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Epidemiology of rare cancers and inequalities in oncologic outcomes

2019

Rare cancers epidemiology is better known compared to the other rare diseases. Thanks to the long history of the European population-based cancer registries and to the EUROCARE huge database, the burden of rare cancers has been estimated the European (EU28) population. A considerable fraction of all cancers is represented by rare cancers (24%). They are a heterogeneous group of diseases, but they share similar problems: uncertainty of diagnosis, lack of therapies, poor research opportunities, difficulties in clinical trials, lack of expertise and of centres of reference. This paper analyses the major epidemiological indicators of frequency (incidence and prevalence) and outcome (5-year surv…

0301 basic medicineMaleSettore MED/06 - Oncologia Medica0302 clinical medicineNeoplasmsEpidemiologyPrevalenceEurope ; Population-based cancer registry ; Rare cancersChildeducation.field_of_studyRelative survivalIncidence (epidemiology)IncidenceGeneral MedicineMiddle AgedSurvival RateEuropeHealthcare DisparitieOncology030220 oncology & carcinogenesisChild PreschoolFemaleHumanAdultmedicine.medical_specialtyAdolescentEurope; Population-based cancer registry; Rare cancers; Surgery; OncologyPopulationSocio-culturaleEurope Population-based cancer registry Rare cancers03 medical and health sciencesYoung AdultRare DiseasesAge DistributionRare DiseasemedicineHumansRare cancersHealthcare DisparitiesSex DistributioneducationPopulation-based cancer registrySurvival rateAgedbusiness.industryPublic healthInfant NewbornCancerRare cancerInfantmedicine.diseaseClinical trial030104 developmental biologyNeoplasmSurgerybusinessDemography
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Positive Role of the MHC Class-I Antigen Presentation Regulator m04/gp34 of Murine Cytomegalovirus in Antiviral Protection by CD8 T Cells

2020

Murine cytomegalovirus (mCMV) codes for MHC class-I trafficking modulators m04/gp34, m06/gp48, and m152/gp40. By interacting with the MHC class-Iα chain, these proteins disconnect peptide-loaded MHC class-I (pMHC-I) complexes from the constitutive vesicular flow to the cell surface. Based on the assumption that all three inhibit antigen presentation, and thus the recognition of infected cells by CD8 T cells, they were referred to as “immunoevasins.” Improved antigen presentation mediated by m04 in the presence of m152 after infection with deletion mutant mCMV-Δm06W, compared to mCMV-Δm04m06 expressing only m152, led us to propose renaming these molecules “viral regulators of antigen present…

0301 basic medicineMicrobiology (medical)BAC mutagenesisMuromegalovirusAdoptive cell transfer030106 microbiologyImmunologyAntigen presentationMutantlcsh:QR1-502CD8 T cellsPeptide bindingCD8-Positive T-LymphocytesMajor histocompatibility complexAntiviral AgentsMicrobiologylcsh:MicrobiologyMiceViral Proteins03 medical and health sciencesCellular and Infection MicrobiologyMHC class IAnimalsCytotoxic T cellnext-generation sequencing (NGS)adoptive cell transferimmune evasionAntigen PresentationMembrane GlycoproteinsbiologyMHC class I antigenHistocompatibility Antigens Class IimmunoevasinBrief Research ReportCell biology030104 developmental biologyInfectious Diseasesbiology.proteinrecombinant virusFrontiers in Cellular and Infection Microbiology
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New Synthetic Nitro-Pyrrolomycins as Promising Antibacterial and Anticancer Agents

2020

: Pyrrolomycins (PMs) are polyhalogenated antibiotics known as powerful biologically active compounds, yet featuring high cytotoxicity. The present study reports the antibacterial and antitumoral properties of new chemically synthesized PMs, where the three positions of the pyrrolic nucleus were replaced by nitro groups, aiming to reduce their cytotoxicity while maintaining or even enhancing the biological activity. Indeed, the presence of the nitro substituent in diverse positions of the pyrrole determined an improvement of the minimal bactericidal concentration (MBC) against Gram-positive (i.e., Staphylococcus aureus) or -negative (i.e., Pseudomonas aeruginosa) pathogen strains as compare…

0301 basic medicineMicrobiology (medical)Staphylococcus aureusmedicine.drug_classAntibioticspyrrolomycinmedicine.disease_causeSettore BIO/19 - Microbiologia Generale01 natural sciencesBiochemistryMicrobiologypyrrolic nucleusHCT116Article03 medical and health sciencesantibacterial activityMCF 7medicinePharmacology (medical)General Pharmacology Toxicology and PharmaceuticsSettore BIO/06 - Anatomia Comparata E CitologiaCytotoxicityheterocyclesMinimum bactericidal concentrationantitumoral activity010405 organic chemistryChemistryPseudomonas aeruginosalcsh:RM1-950MCF7Biological activitySettore CHIM/08 - Chimica Farmaceutica0104 chemical scienceslcsh:Therapeutics. Pharmacology030104 developmental biologyInfectious DiseasesMCF-7BiochemistryStaphylococcus aureusPseudomonas aeruginosaNitroAntibiotics
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