Search results for " studi"

showing 10 items of 20942 documents

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

2016

Genome-wide study in Germans identifies four novel multiple sclerosis risk genes and confirms already known gene loci.

0301 basic medicineMaleDLEU1MedizinGenome-wide association studyEpigenesis GeneticCohort StudiesResearch ArticlesTranscriptional Regulator ERGGeneticsAged 80 and overGlycine Hydroxymethyltransferaseeducation.field_of_studyMultidisciplinaryDNA methylationSciAdv r-articlesMiddle AgedSHMT13. Good healthddc:DNA-Binding ProteinsERGDNA methylationFemaleMAZFunction and Dysfunction of the Nervous SystemResearch ArticleAdultAdolescentPopulationQuantitative Trait Loci610 Medicine & healthDleu1 ; Dna Methylation ; Erg ; L3mbtl3 ; Maz ; Multiple Sclerosis ; Shmt1 ; Genome-wide Association StudyQuantitative trait locusBiologyMajor histocompatibility complexNeurological DisordersMultiple sclerosis03 medical and health sciencesYoung AdultTranscriptional Regulator ERGHumansGenetic Predisposition to DiseaseL3MBTL3EpigeneticsAlleleeducationAllelesAgedgenome-wide association study030104 developmental biologyGenetic LociCase-Control Studiesbiology.proteinTranscription Factors
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Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy

2016

Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the genetics of which are poorly characterized. We designed a panel comprising 56 genes associated with Charcot-Marie-Tooth disease/hereditary motor neuropathy. We validated this diagnostic tool by first testing 11 patients with pathological mutations. A cohort of 33 affected subjects was selected for this study. The DNAJB2 c.352+1G>A mutation was detected in two cases; novel changes and/or variants with low frequency (50 known disease-associated genes. Mutations in some of these gene…

0301 basic medicineMaleDiseaseBioinformaticsDNA sequencingPathology and Forensic Medicine03 medical and health sciences0302 clinical medicineCharcot-Marie-Tooth DiseaseMedicineHumansGeneGeneticsbusiness.industryGenetic heterogeneityHaplotypeCase-control studyHigh-Throughput Nucleotide SequencingReproducibility of ResultsHSP40 Heat-Shock Proteins030104 developmental biologyHaplotypesCase-Control StudiesMutation (genetic algorithm)MutationMolecular MedicineFemalebusinessHereditary Sensory and Motor Neuropathy030217 neurology & neurosurgeryFounder effectMolecular Chaperones
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Sweet taste of prosocial status signaling: When eating organic foods makes you happy and hopeful.

2018

As the current research suggests that there are links between prosocial acts and status signaling (including sustainable consumer choices), we empirically study (with three experiments) whether food consumers go green to be seen. First, we examine how activating a motive for status influences prosocial organic food preferences. Then, we examine how the social visibility of the choice (private vs. public) affects these preferences. We found that when consumers' desire for status was elicited, they preferred organic food products significantly over their nonorganic counterparts; making the choice situation visible created the same effect. Finally, we go beyond consumers' evaluative and behavi…

0301 basic medicineMaleEmotionsHappinessLUXURY BRANDSChoice BehaviorStatusCONSPICUOUS CONSERVATIONEatingSurveys and QuestionnairesCOMPETITIVE ALTRUISMta512General Psychologymedia_common2. Zero hungerCONSUMER-BEHAVIORNutrition and DieteticsTaste (sociology)05 social scienceskuluttajakäyttäytyminenCHOICEProsocial signalingluomuruokaElevation (emotion)Prosocial behaviorTasteFemaleFood OrganicNonconscious behaviorDiet HealthyPsychologySocial psychologyConspicuous conservationAdultmedicine.medical_specialty515 Psychologymedia_common.quotation_subjectGREENprososiaalisuussosiaalinen asema03 medical and health sciencesFood PreferencesYoung AdulttunteetOrganic foodInternal medicine0502 economics and businessmedicineSOCIAL FACILITATIONHumansConsumer behaviourConsumption (economics)Social facilitationMotivation030109 nutrition & dieteticsCONSUMPTIONMotivational primingConsumer BehaviorCompetitive altruismSenso-emotional experienceEndocrinology416 Food Scienceta5141050211 marketingPURCHASE INTENTIONFollow-Up StudiesAppetite
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A Predictive Model of the Prevalence of Delirium in Elderly Subjects Admitted to Nursing Homes.

2017

INTRODUCTION Delirium is common in geriatric patients admitted to nursing homes, with an incidence of 22-79% among long-term residents. AIM To establish a predictive model of the risk of delirium episodes in a sample of elderly people living in nursing homes. MATERIAL AND METHODS A retrospective, cross-sectional case-control study covering a period of 12 consecutive months (April 2014 - March 2015) was carried out. The included cases had suffered at least one episode of delirium during the study period. Sociodemographic and clinical variables as well as risk factors predisposing to or triggering episodes of delirium were recorded. RESULTS A total of 193 cases and 123 controls were recruited…

0301 basic medicineMaleEndocrinology Diabetes and MetabolismUrinary incontinenceCholinergic Antagonists0302 clinical medicinePatient AdmissionRisk FactorsOdds RatioPrevalenceImmunology and AllergyHomes for the AgedDepression (differential diagnoses)Aged 80 and overDepressionIncidence (epidemiology)Area under the curveAge FactorsArea Under CurveFemalemedicine.symptommedicine.medical_specialtymedicine.drug_classUrinary systemCommunicable Diseases03 medical and health sciencesInternal medicinemedicineAnticholinergicDementiaHumansIntensive care medicineGeriatric AssessmentRetrospective StudiesChi-Square Distributionbusiness.industryDeliriummedicine.diseaseNursing HomesAffect030104 developmental biologyCross-Sectional StudiesLogistic ModelsUrinary IncontinenceROC CurveSpainDeliriumDementiabusiness030217 neurology & neurosurgeryEndocrine, metabolicimmune disorders drug targets
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The effectiveness of influenza vaccination in preventing hospitalisations of elderly individuals in two influenza seasons: a multicentre case-control…

2017

Influenza vaccination may limit the impact of influenza in the community. The aim of this study was to assess the effectiveness of influenza vaccination in preventing hospitalisation in individuals aged ≥ 65 years in Spain. A multicentre case–control study was conducted in 20 Spanish hospitals during 2013/14 and 2014/15. Patients aged ≥ 65 years who were hospitalised with laboratory-confirmed influenza were matched with controls according to sex, age and date of hospitalisation. Adjusted vaccine effectiveness (VE) was calculated by multivariate conditional logistic regression. A total of 728 cases and 1,826 matched controls were included in the study. Overall VE was 36% (95% confidence inte…

0301 basic medicineMaleEpidemiologyLaboratory-confirmed influenzaPreventing hospitalisationsUnited-statesmatched case–controlScreening method0302 clinical medicineInfluenza A Virus H1N1 SubtypeOutcome Assessment Health Care030212 general & internal medicineAged 80 and overVaccinationAucklandVaccinationHospitalizationImpactInfluenza VaccinesPopulation SurveillanceConditional logistic regressionFemalehospitalised cases hospitalised controlsSeasonsinfluenzaResearch Articlemedicine.medical_specialtyPopulation030106 microbiologyeffectivenesselderly03 medical and health sciencesNavarreNew-zealandVirologyInternal medicineInfluenza HumanmedicineHumansIn patientVaccine PotencyAgedbusiness.industryInfluenza A Virus H3N2 SubtypePublic Health Environmental and Occupational HealthCase-control studyInfluenza aConfidence intervalSurgeryInfluenza vaccinationLogistic ModelsSpainCase-Control StudiesElderly individualsbusiness
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Phase III, randomised trial of avelumab versus physician's choice of chemotherapy as third-line treatment of patients with advanced gastric or gastro…

2018

BACKGROUND: There currently are no internationally recognised treatment guidelines for patients with advanced gastric cancer/gastro-oesophageal junction cancer (GC/GEJC) in whom two prior lines of therapy have failed. The randomised, phase III JAVELIN Gastric 300 trial compared avelumab versus physician's choice of chemotherapy as third-line therapy in patients with advanced GC/GEJC. PATIENTS AND METHODS: Patients with unresectable, recurrent, locally advanced, or metastatic GC/GEJC were recruited at 147 sites globally. All patients were randomised to receive either avelumab 10 mg/kg by intravenous infusion every 2 weeks or physician's choice of chemotherapy (paclitaxel 80 mg/m2 on days 1, …

0301 basic medicineMaleEsophageal Neoplasmsmedicine.medical_treatmentchemotherapyGastroenterologyChoice Behaviorlaw.invention0302 clinical medicineRandomized controlled triallawAntineoplastic Combined Chemotherapy ProtocolsClinical endpointMedicinePractice Patterns Physicians'Aged 80 and overHazard ratioAntibodies MonoclonalHematologyMiddle AgedPrognosisChemotherapy regimenAdenocarcinoma MucinousSurvival RateOncology030220 oncology & carcinogenesisFemaleImmunotherapyEsophagogastric Junctionmedicine.drugPD-L1Adultmedicine.medical_specialtyAdolescentPaclitaxelAdenocarcinomaAntibodies Monoclonal HumanizedIrinotecanDecision Support Techniquesgastro-oesophageal junction cancer03 medical and health sciencesYoung AdultStomach NeoplasmsInternal medicineGastrointestinal TumorsHumansddc:610Survival rateAgedChemotherapybusiness.industrygastric cancerInternational AgenciesOriginal Articlesphase IIICarcinoma PapillaryClinical trialIrinotecanEditor's Choice030104 developmental biologyavelumabNeoplasm Recurrence LocalbusinessCarcinoma Signet Ring CellBiomarkersFollow-Up Studies
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Impact of fascioliasis reinfection on Fasciola hepatica egg shedding: relationship with the immune-regulatory response.

2019

Abstract Fascioliasis is a disease caused by liver flukes. In human fascioliasis hyperendemic areas, reinfection and chronicity are the norm. Control strategies in humans require the use of egg count techniques to calculate the appropriate treatment dose for colic risk prevention. The present study investigates how fascioliasis reinfection affects liver fluke egg shedding and its relationship with the immune-regulatory response. The experimental design reproduced the usual reinfection/chronicity conditions in human fascioliasis endemic areas and included Fasciola hepatica primo-infected Wistar rats (PI) and rats reinfected at 4 weeks (R4), 8 weeks (R8), 12 weeks (R12), and negative control …

0301 basic medicineMaleFascioliasisVeterinary (miscellaneous)030231 tropical medicinePhysiologySpleenBiology03 medical and health sciences0302 clinical medicineImmune systemRecurrenceparasitic diseasesmedicineFasciola hepaticaAnimalsLongitudinal StudiesRats WistarParasite Egg CountEggs per gramFecesFOXP3030108 mycology & parasitologyLiver flukeFasciola hepaticabiology.organism_classificationInterleukin-10RatsInterleukin 10Infectious Diseasesmedicine.anatomical_structureCross-Sectional StudiesInsect ScienceImmunoglobulin GParasitologyActa tropica
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Transthyretin familial amyloid polyneuropathy (TTR‐FAP): Parameters for early diagnosis

2017

Abstract Background Familial transthyretin amyloidosis is a life‐threatening disease presenting with sensorimotor and autonomic polyneuropathy. Delayed diagnosis has a detrimental effect on treatment and prognosis. To facilitate diagnosis, we analyzed data patterns of patients with transthyretin familial amyloid polyneuropathy (TTR‐FAP) and compared them to polyneuropathies of different etiology for clinical and electrophysiological discriminators. Methods Twenty‐four patients with TTR‐FAP and 48 patients with diabetic polyneuropathy (dPNP) were investigated (neurological impairment score NIS; neurological disability score NDS) in a cross‐sectional design. Both groups were matched for gende…

0301 basic medicineMaleGastroenterologyCohort StudiesBehavioral Neuroscience0302 clinical medicineDiabetic NeuropathiesHeart RateMedicineHeart rate variabilityUlnar nerveOriginal ResearchNeurologic ExaminationUnivariate analysisbiologyAmyloidosisMiddle Agedmedicine.anatomical_structureHyperalgesiaUpper limbFemaleautonomic functionPolyneuropathyAdultmedicine.medical_specialtyTTR‐FAPPainAutonomic Nervous SystemDiagnosis Differential03 medical and health sciencesPolyneuropathiesInternal medicineHumansAgedamyloidosisAmyloid Neuropathies Familialbusiness.industrynutritional and metabolic diseasesmedicine.diseaseHandTransthyretin030104 developmental biologyCross-Sectional StudiesEarly DiagnosisEtiologybiology.proteinpolyneuropathyneurophysiologybusinessHereditary Sensory and Motor Neuropathy030217 neurology & neurosurgeryBrain and Behavior
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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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Positioning of darunavir/cobicistat-containing antiretroviral regimens in real life: results from a large multicentre observational prospective cohor…

2019

Abstract Background Study aim was to evaluate the safety and durability of darunavir/cobicistat (DRV/c) in a real life setting. Methods Multicentre prospective cohort study performed in the context of SCOLTA (Surveillance Cohort Long-Term Toxicity Antiretrovirals). Patients were evaluated at baseline, week 24 and 48. Changes were evaluated using the paired t test or signed rank test. The multivariable analysis was performed using a general linear model, after ranking of not normally distributed variables. Results A total of 249 patients were included, 72 (29%) were in DRV/c-based dual therapies (DT). Hypercholesterolemia, HC, (total cholesterol (TC) ≥ 200 mg/dL or low density-C (LDL-C) ≥ 13…

0301 basic medicineMaleHIV Infections0302 clinical medicineDualMedicineHIV InfectionPharmacology (medical)030212 general & internal medicineProspective StudiesProspective cohort studyDarunavirCobicistatMiddle AgedViral LoadTolerabilityTolerabilityAnti-Retroviral AgentsCohortMolecular MedicineDrug Therapy CombinationFemaleDarunavir/cobicistatHumanmedicine.drugAdverse eventAdultlcsh:Immunologic diseases. Allergymedicine.medical_specialty030106 microbiologyContext (language use)Durability03 medical and health sciencesDarunavir/cobicistat Dual Durability Tolerability CISAI Adverse eventsVirologyInternal medicineHumansDarunavirbusiness.industryResearchHypertriglyceridemiamedicine.diseaseCISAIDiscontinuationProspective StudieAdverse eventsHIV-1Anti-Retroviral AgentCobicistatbusinesslcsh:RC581-607
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