Search results for "ITALY"

showing 10 items of 2893 documents

Shared language, diverging genetic histories: high-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe.

2015

The relationship between genetic and linguistic diversification in human populations has been often explored to interpret some specific issues in human history. The Albanian-speaking minorities of Sicily and Southern Italy (Arbereshe) constitute an important portion of the ethnolinguistic variability of Italy. Their linguistic isolation from neighboring Italian populations and their documented migration history, make such minorities particularly effective for investigating the interplay between cultural, geographic and historical factors. Nevertheless, the extent of Arbereshe genetic relationships with the Balkan homeland and the Italian recipient populations has been only partially investi…

0301 basic medicineMaleGenetics; Genetics (clinical)PopulationY-chromosome variabilityPopulationSettore BIO/08 - ANTROPOLOGIAPopulation geneticsGenetic admixtureHomelandgenetics (clinical)Diversification (marketing strategy)Population stratificationChromosomesArticle03 medical and health sciencesGeneticModelsGenetic variationHumansgeneticseducationLanguageeducation.field_of_studygenetics (clinical); geneticsChromosomes Human YY chromosomeModels GeneticMediterranean Regionpopulation geneticsGenetic Variationlanguage.human_languageY-ChromosomeChromosomes Human Y; Female; Humans; Italy; Male; Mediterranean Region; Pedigree; Population; Genetic Variation; Language; Models GeneticPedigreeHuman Population Genetics Y chromosome Arbereshe linguistic minorities genetic isolates admixture simulations micro-evolutionary history Southern Italy030104 developmental biologyGeographyItalyEvolutionary biologylanguageArbereshe linguistic minorityArbreshFemaleSicilianSicily and CalabriaYHumanEuropean journal of human genetics : EJHG
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Efficacy and tolerability of switching to a dual therapy with darunavir/ritonavir plus raltegravir in HIV-infected patients with HIV-1 RNA ≤50 cp/…

2017

Background: Nucleos(t)ide reverse transcriptase inhibitors (NRTI) toxicity may represent a threat for long-term success of combined antiretroviral therapy. Some studies have suggested a possible improvement of NRTI-related toxicity after switching to NRTI-sparing regimens. Objectives: We aimed to explore the efficacy and tolerability of switching to darunavir/ritonavir (DRV/r) plus raltegravir (RAL) while having a viral load (VL) ≤50 copies/mL in the clinical setting. Study design: Treatment-experienced HIV 1-infected patients enrolled in the ICONA Foundation Study cohort were included if they switched their current regimen to DRV/r + RAL with a HIV-RNA ≤50 copies/mL. Different defin…

0301 basic medicineMaleHIV InfectionsAntiretroviral therapy; Darunavir/ritonavir; Efficacy; NRTI-sparing regimen; Raltegravir; Tolerability; Microbiology (medical); Infectious DiseasesAntiretroviral therapy; Darunavir/ritonavir; Efficacy; NRTI-sparing regimen; Raltegravir; Tolerability; Adult; Anti-HIV Agents; Cohort Studies; Darunavir; Drug Therapy Combination; Female; HIV Infections; HIV-1; Humans; Italy; Male; Middle Aged; RNA Viral; Raltegravir Potassium; Ritonavir; Viral LoadGastroenterologyCohort StudiesAntiretroviral therapy; Darunavir/ritonavir; Efficacy; NRTI-sparing regimen; Raltegravir; Tolerability0302 clinical medicineMedicineNRTI-sparing regimen030212 general & internal medicineViralDarunavireducation.field_of_studyLamivudineGeneral MedicineMiddle AgedViral LoadTolerabilityAntiretroviral therapyInfectious DiseasesTolerabilityItalyCombinationRNA ViralDrug Therapy CombinationFemaleViral loadmedicine.drugAdultMicrobiology (medical)medicine.medical_specialtyEfficacyAnti-HIV Agents030106 microbiologyPopulationDarunavir/ritonavir; Raltegravir; Efficacy; Tolerability; Antiretroviral therapy; NRTI-sparing regimenSettore MED/17 - MALATTIE INFETTIVELower riskNO03 medical and health sciencesDrug TherapyInternal medicineRaltegravir PotassiumHumanseducationDarunavirRitonavirbusiness.industryDarunavir/ritonavirRaltegravirRaltegravirHIV-1RNARitonavirbusinessAntiretroviral therapy; Darunavir/ritonavir; Efficacy; NRTI-sparing regimen; Raltegravir; Tolerability;
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A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

2018

Abstract Introduction Breast cancer (BC) in men is a rare disease, whose etiology appears to be associated with genetic factors. Inherited mutations in BRCA1/2 genes account for about 10–15% of all cases. FANCM, functionally linked to BRCA1/2, has been suggested as a novel BC susceptibility gene. Our aim was to test if FANCM germline mutations could further explain male BC (MBC) susceptibility. Methods We screened the entire coding region of FANCM in 286 MBCs by a multi-gene panel analysis, and compared these data with available whole exome sequencing data from 415 men used as population controls. Moreover, we genotyped the two most frequent FANCM mutations (c.5101C>T and c.5791C>T) in 506 …

0301 basic medicineMaleMutation rateSettore MED/06 - Oncologia MedicaDNA Helicasemedicine.disease_causeBRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer; Adult; Aged; Aged 80 and over; Biomarkers Tumor; Breast Neoplasms Male; Case-Control Studies; DNA Helicases; Genetic Predisposition to Disease; Genotype; Germ-Line Mutation; Humans; Italy; Male; Middle Aged; Risk Factors; Whole Genome Sequencing; Young Adult; Surgery0302 clinical medicineFANCMRisk Factorshemic and lymphatic diseasesGermline mutationGenotypeBRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer; SurgeryFANCMMutation frequencyGeneticsAged 80 and overeducation.field_of_studyMutationGeneral MedicineMiddle AgedItaly030220 oncology & carcinogenesisMale breast cancerCase-Control StudieHumanAdultcongenital hereditary and neonatal diseases and abnormalitiesGenotypePopulationBreast Neoplasms Male03 medical and health sciencesYoung AdultGermline mutationBRCA1/2medicineBiomarkers TumorHumansGenetic Predisposition to DiseaseeducationGermline mutationsGerm-Line MutationAgedBreast cancer susceptibilityWhole Genome Sequencingbusiness.industryRisk FactorDNA Helicasesnutritional and metabolic diseasesmedicine.diseaseMale breast cancer030104 developmental biologyCase-Control StudiesSurgerybusiness
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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

2017

Abstract The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, esp…

0301 basic medicineMaleNeonatal intensive care unitDiseaseReview030105 genetics & heredityPediatricsWhole Exome SequencingNeonateNeonatalOutcome Assessment Health CareDiagnosisPolicy MakingExome sequencingSanger sequencingGenomelcsh:RJ1-570Perinatology and Child HealthSettore MED/38Intensive Care UnitsItalyWhole-exome sequencingPractice Guidelines as TopicsymbolsWESFemaleHumanDiagnosiNICUmedicine.medical_specialtyMendelian03 medical and health sciencessymbols.namesakeOutcome Assessment (Health Care)Neonatal ScreeningNeonatal intensive care unitGeneticIntensive Care Units NeonatalExome SequencingmedicineDiagnosis; Genetic; Genome; Mendelian; Neonatal intensive care unit; Neonate; NICU; WES; WGS; Whole-exome sequencing; Pediatrics Perinatology and Child HealthHumansGenetic TestingIntensive care medicineSettore MED/06 - ONCOLOGIA MEDICAGenetic heterogeneityCritically illbusiness.industryGenome HumanInfant NewbornInfantlcsh:PediatricsNewbornInfant newborn030104 developmental biologyDiagnosis; Genetic; Genome; Mendelian; NICU; Neonatal intensive care unit; Neonate; WES; WGS; Whole-exome sequencing; Female; Genetic Testing; Genome Human; Humans; Infant; Infant Newborn; Intensive Care Units Neonatal; Italy; Male; Neonatal Screening; Outcome Assessment (Health Care); Policy Making; Whole Exome Sequencing; Practice Guidelines as TopicPediatrics Perinatology and Child HealthDifferential diagnosisbusinessWGS
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RAAS inhibitors are not associated with mortality in COVID-19 patients: Findings from an observational multicenter study in Italy and a meta-analysis…

2020

Abstract Objective The hypothesis that been set forward that use of Renin Angiotensin Aldosterone System (RAAS) inhibitors is associated with COVID−19 severity. We set-up a multicenter Italian collaboration (CORIST Project, ClinicalTrials.gov ID: NCT04318418 ) to retrospectively investigate the relationship between RAAS inhibitors and COVID−19 in-hospital mortality. We also carried out an updated meta-analysis on the relevant studies. Methods We analyzed 4069 unselected patients with laboratory-confirmed SARS-CoV-2 infection and hospitalized in 34 clinical centers in Italy from February 19, 2020 to May 23, 2020. The primary end-point in a time-to event analysis was in-hospital death, compar…

0301 basic medicineMalePhysiologyMiddle Aged Renin-Angiotensin SystemAngiotensin-Converting Enzyme Inhibitors030204 cardiovascular system & hematologyACE-I; ARB; COVID-19; angiotensin converting enzyme inhibitors; angiotensin receptor blockers; mortality; sartansSeverity of Illness IndexRenin-Angiotensin System0302 clinical medicineangiotensin converting enzyme inhibitorsRisk FactorsACE-I80 and overMedicineHospital MortalitySartanAged 80 and overIncidence (epidemiology)IncidenceHazard ratioAngiotensin Receptor AntagonistMiddle AgedsartansARBHospitalizationAntihypertensive AgentItalyMeta-analysisHypertensionSartansMolecular MedicineFemaleRisk assessmentHumanmedicine.medical_specialtyAngiotensin converting enzyme inhibitors; ACE-I; Angiotensin receptor blockers; ARB; Sartans; COVID-19; MortalityCoronavirus disease 2019 (COVID-19)Risk AssessmentArticleCOVID−1903 medical and health sciencesAngiotensin Receptor AntagonistsMeta-Analysis as TopicInternal medicineSeverity of illnessHumansAngiotensin receptor blockerMortalityAntihypertensive AgentsAgedPharmacologyACE-I; ARB; Angiotensin converting enzyme inhibitors; Angiotensin receptor blockers; COVID−19; Mortality; Sartans; Aged; Aged 80 and over; Angiotensin Receptor Antagonists; Angiotensin-Converting Enzyme Inhibitors; Antihypertensive Agents; COVID-19; Female; Hospitalization; Humans; Hypertension; Incidence; Italy; Male; Meta-Analysis as Topic; Middle Aged; Renin-Angiotensin System; Risk Assessment; Risk Factors; Severity of Illness Index; Hospital Mortalitybusiness.industryRisk FactorCOVID-19Angiotensin-Converting Enzyme InhibitorAngiotensin receptor blockersmortalityConfidence intervalangiotensin receptor blockersAngiotensin converting enzyme inhibitors030104 developmental biologyACE-I; ARB; COVID-19 angiotensin converting enzyme inhibitors angiotensin receptor blockers mortality sartansObservational studyAngiotensin converting enzyme inhibitorbusiness
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Case-based surveillance of measles in Sicily during 2012-2017: The changing molecular epidemiology and implications for vaccine strategies.

2018

Following the indication of the World Health Organization, a national plan for the elimination of measles was approved in Italy and this included the improvement of the molecular surveil- lance of measles viruses and the interruption of indigenous transmission of the disease. Nevertheless, large outbreaks continue to occur in almost all regions of the country, includ- ing Sicily. Here we describe the epidemiology and molecular dynamics of measles viruses as a result of the measles surveillance activity carried out by the “Reference Laboratory for Measles and Rubella” in Sicily over a 5-year period. Biological samples of 259 suspected measles cases were tested for viral RNA detection and a t…

0301 basic medicineMaleRNA virusesViral DiseasesHeredityMeasles Surveillance Vaccine Epidemiology Molecular epidemiology Genotyping Sicily Italylcsh:MedicineSettore MED/42 - Igiene Generale E ApplicataPathology and Laboratory MedicineGeographical locationsEpidemiologyMedicine and Health SciencesPublic and Occupational HealthChildlcsh:ScienceSicilyData ManagementMolecular EpidemiologyMultidisciplinarybiologyTransmission (medicine)Database and informatics methodsSequence analysisPhylogenetic AnalysisVaccination and ImmunizationPhylogeneticsEuropeGenetic MappingInfectious DiseasesItalyMedical MicrobiologyChild PreschoolViral PathogensVirusesRNA ViralPathogensResearch ArticleAdultmedicine.medical_specialtyComputer and Information SciencesAdolescentBioinformaticsMeasles VaccineImmunologyNucleotide SequencingMeasles VirusVariant GenotypesRubellaMeaslesMicrobiologyMeasles virus03 medical and health sciencesYoung AdultmedicineGeneticsHumansEvolutionary SystematicsEuropean UnionMolecular Biology TechniquesSequencing TechniquesGenotypingMicrobial PathogensMolecular BiologyDNA sequence analysisRetrospective StudiesTaxonomyEvolutionary BiologyMolecular epidemiologyBiology and life scienceslcsh:ROrganismsOutbreakInfantbiology.organism_classificationmedicine.diseaseVirologyResearch and analysis methods030104 developmental biologyParamyxoviruseslcsh:QPreventive MedicinePeople and placesMeaslesPLoS ONE
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Hyperuricemia and Risk of Cardiovascular Outcomes: The Experience of the URRAH (Uric Acid Right for Heart Health) Project

2020

The latest European Guidelines of Arterial Hypertension have officially introduced uric acid evaluation among the cardiovascular risk factors that should be evaluated in order to stratify patient's risk. In fact, it has been extensively evaluated and demonstrated to be an independent predictor not only of all-cause and cardiovascular mortality, but also of myocardial infraction, stroke and heart failure. Despite the large number of studies on this topic, an important open question that still need to be answered is the identification of a cardiovascular uric acid cut-off value. The actual hyperuricemia cut-off (> 6 mg/dL in women and 7 mg/dL in men) is principally based on the saturation …

0301 basic medicineMaleTime FactorsDiseaseUric acid.chemistry.chemical_compound0302 clinical medicineRisk FactorsUric Acid Cardiovascular events epidemiologyEpidemiologyMulticenter Studies as TopicHyperuricemiaStrokeCardiovascular events; Cardiovascular mortality; Uric acid; URRAHMiddle AgedPrognosisObservational Studies as TopicItalyCardiovascular DiseasesResearch DesignFemaleCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyCardiovascular mortalityUric acid · Cardiovascular mortality · Cardiovascular events · URRAHContext (language use)Cardiovascular eventHyperuricemiaRisk AssessmentCardiovascular events03 medical and health sciencesURRAHcardiovascular events; cardiovascular mortality; urrah; uric acidPharmacotherapyInternal medicineInternal MedicinemedicineHumansAgedRetrospective Studiesbusiness.industrymedicine.disease030104 developmental biologychemistryHeart failureUric acidbusinessUric acid030217 neurology & neurosurgeryCardiovascular events; Cardiovascular mortality; Uric acid; URRAH; Adult; Aged; Biomarkers; Cardiovascular Diseases; Female; Humans; Hyperuricemia; Italy; Male; Middle Aged; Multicenter Studies as Topic; Observational Studies as Topic; Prognosis; Research Design; Retrospective Studies; Risk Assessment; Risk Factors; Time Factors; Uric AcidBiomarkers
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Impact of Pre-Analytical Time on the Recovery of Pathogens from Blood Cultures: Results from a Large Retrospective Survey.

2017

Background Prompt identification of bloodstream pathogens is essential for optimal management of patients. Significant changes in analytical methods have improved the turnaround time for laboratory diagnosis. Less attention has been paid to the time elapsing from blood collection to incubation and to its potential effect on recovery of pathogens. We evaluated the performance of blood cultures collected under typical hospital conditions in relation to the length of their pre-analytical time. Methods We carried out a large retrospective study including 50,955 blood cultures collected, over a 30-month period, from 7,035 adult septic patients. Cultures were accepted by the laboratory only durin…

0301 basic medicineMaleTime FactorsResearch FacilitiesPhysiologylcsh:MedicineBacteremiaYeast and Fungal ModelsMedicine (all); Biochemistry Genetics and Molecular Biology (all); Agricultural and Biological Sciences (all)Pathology and Laboratory MedicineTurnaround timeSurveys and QuestionnairesMedicine and Health SciencesMedicineBlood culturelcsh:ScienceIncubationCandidaFungal PathogensMultidisciplinarymedicine.diagnostic_testPre analyticalHematologyMiddle AgedHospitalsClinical Laboratory SciencesBody FluidsClinical LaboratoriesBloodItalyExperimental Organism SystemsMedical MicrobiologyFemaleAnatomyPathogensResearch LaboratoriesResearch ArticleBiotechnologymedicine.medical_specialtyCatheters030106 microbiologyMycologyResearch and Analysis MethodsMicrobiologySpecimen HandlingSepsis03 medical and health sciencesSigns and SymptomsRetrospective surveyDiagnostic MedicineInternal medicineSepsisHumansCandida AlbicansMicrobial PathogensAgedRetrospective StudiesBacteriological TechniquesBacteriabusiness.industryClinical Laboratory Techniqueslcsh:ROrganismsFungiBiology and Life SciencesRetrospective cohort studymedicine.diseaseYeastSurgeryBlood CultureBacteremialcsh:QMedical Devices and EquipmentbusinessGovernment LaboratoriesPloS one
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Subclinical and clinical atherosclerosis in rheumatoid arthritis: results from the 3-year, multicentre, prospective, observational GIRRCS (Gruppo Ita…

2019

Background Rheumatoid arthritis (RA) is associated with an increased risk of morbidity and mortality, when compared with general population, largely due to enhanced atherosclerotic disease. In this work, we aimed at assessing both occurrence and predictive factors of subclinical and clinical atherosclerosis in RA. Methods From January 1, 2015, to December 31, 2015, consecutive participants with RA, admitted to Italian Rheumatology Units, were assessed in the GIRRCS (Gruppo Italiano di Ricerca in Reumatologia Clinica e Sperimentale) cohort. After that, those participants were followed up in a 3-year, prospective, observational study, assessing the occurrence of subclinical and clinical ather…

0301 basic medicineMaleTime Factorslcsh:Diseases of the musculoskeletal systemType 2 diabetesComorbidityArthritis Rheumatoid0302 clinical medicineProspective StudiesSubclinical infectionAged 80 and overeducation.field_of_studyIncidence (epidemiology)IncidenceAge FactorsType 2 diabetesMiddle AgedPrognosisCardiovascular diseaseSurvival RateCardiovascular diseasesItalyRheumatoid arthritisAtherosclerosiCohortDisease ProgressionFemaleResearch ArticleAdultmedicine.medical_specialtyRemissionPopulation03 medical and health sciencesYoung AdultAge DistributionSex FactorsInternal medicinemedicineHumansSex DistributionRheumatoid arthritiseducationRheumatoid arthritiAged030203 arthritis & rheumatologybusiness.industryAtherosclerosis; Cardiovascular diseases; Remission; Rheumatoid arthritis; Type 2 diabetesmedicine.diseaseAtherosclerosisRheumatologySettore MED/16 - Reumatologia030104 developmental biologyBlood pressurelcsh:RC925-935businessFollow-Up Studies
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Influenza like Illness among Medical Residents Anticipates Influenza Diffusion in General Population: Data from a National Survey among Italian Medic…

2016

The aim of this multicentre study was to assess incidence of influenza like illness (ILI) among Italian medical residents (MRs) during 2011±2012 influenza season, to detect variables associated with ILI and to compare estimated ILI incidence among MRs and general population. A cross-sectional survey was carried out throughout an anonymous questionnaire administered to all MRs attending the post-graduate medical schools of 18 Italian Universities. At the same time an analysis of the ILI incidence in the Italian general population was conducted through the Italian Influenza Surveillance Network. Of a total of 2,506 MRs, 1,191 (47.5%) reported at least one ILI episode. A higher proportion of I…

0301 basic medicineMaleViral DiseasesHospital settingEpidemiologyIatrogenic DiseasePopulation DynamicsSocial Scienceslcsh:MedicineGeographical Locations0302 clinical medicineSociologyMedicine and Health SciencesMedicineEthnicitiesCumulative incidencePublic and Occupational Health030212 general & internal medicinelcsh:Scienceeducation.field_of_studyMultidisciplinaryIncidence (epidemiology)IncidenceVaccinationvirus diseasesVaccination and ImmunizationItalian PeopleVaccinationEuropeInfectious DiseasesItalyInfluenza VaccinesPopulation dataEngineering and TechnologyFemaleMedical emergencySafety EquipmentSafetyResearch ArticleInfectious Disease Control030106 microbiologyPopulationImmunologyEquipmentDisease SurveillanceInfluenza Community outbreak Influenza vaccines Hygiene and hospital infections ILI IncidenceEducation03 medical and health sciencesInfluenza HumanHumanseducationInfluenza-like illnessPopulation Biologybusiness.industrylcsh:RInternship and ResidencyBiology and Life Sciencesmedicine.diseaseInfluenzaGeographic DistributionNorthern italyrespiratory tract diseasesMedical EducationInfectious Disease SurveillancePeople and PlacesPopulation Groupingslcsh:QPreventive MedicinebusinessMedical HumanitiesDemography
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