Search results for " GENOTYPE"

showing 10 items of 205 documents

P0792 : Baseline factors associated with increased SVR rates in 123 treatment-naïve chronic HCV genotype 1 patients treated with a shortened 12-week …

2015

Simeprevirmedicine.medical_specialtyMultivariate analysisHepatologybusiness.industryRibavirinVirologyGastroenterologyTherapy naiveRegimenchemistry.chemical_compoundHcv genotype 1chemistryPegylated interferonInternal medicinemedicinebusinessmedicine.drugJournal of Hepatology
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Phylogenetic analysis in the clinical risk management of an outbreak of hepatitis C virus infection among transfused thalassaemia patients in Italy

2021

Background: Occurrence of hepatitis C virus (HCV) infection is reduced by effective risk management procedures, but patient-to-patient transmission continues to be reported in healthcare settings. Aim: To report the use of phylogenetic analysis in the clinical risk management of an HCV outbreak among 128 thalassaemia outpatients followed at a thalassaemia centre of an Italian hospital. Methods: Epidemiological investigation and root-cause analysis were performed. All patients with acute hepatitis and known chronic infection were tested for HCV RNA, HCV genotyping, and NS3, NS5A, and NS5B HCV genomic region sequencing. To identify transmission clusters, phylogenetic trees were built for each…

SofosbuvirClinical risk management Hepatitis C virus (HCV) Molecular epidemiology Nosocomial outbreak Phylogenetic analysis Antiviral Agents Bayes Theorem Disease Outbreaks Genotype Hepacivirus Humans Italy Phylogeny Risk Management Hepatitis C ThalassemiaHepacivirusHepacivirus030501 epidemiologySettore MED/42 - Igiene Generale E Applicatamedicine.disease_causeDisease OutbreaksSettore MED/07chemistry.chemical_compoundSettore BIO/13 - Biologia ApplicataEpidemiologyMedicinePhylogenySettore MED/12 - Gastroenterologia0303 health sciencesClinical risk managementPhylogenetic analysisbiologyTransmission (medicine)virus diseasesGeneral MedicineHepatitis CHepatitis C virus (HCV)Hepatitis CInfectious DiseasesItalyMolecular epidemiologyThalassemia0305 other medical sciencemedicine.drugMicrobiology (medical)Ledipasvirmedicine.medical_specialtyGenotypeHepatitis C virusAntiviral Agents03 medical and health sciencesPhylogenetic analysiInternal medicineHumansRisk Management030306 microbiologybusiness.industryNosocomial outbreakBayes Theorembiology.organism_classificationmedicine.diseasedigestive system diseasesChronic infectionchemistrybusiness
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…

TelomeraseMessengerCàncer d'ovariEstrogen receptorAetiology screening and detection [ONCOL 5]0302 clinical medicineBreast cancerRisk FactorsAlternative Splicing; Biomarkers Tumor; Breast Neoplasms; Case-Control Studies; Chromatin; DNA Methylation; Female; Gene Expression Profiling; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Luciferases; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms; Polymorphism Single Nucleotide; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Telomerase; Telomere; GeneticsGenotypeBUCCAL CELLSLuciferasesTelomeraseOligonucleotide Array Sequence AnalysisOvarian Neoplasms0303 health sciencesTumorTelòmerReverse Transcriptase Polymerase Chain ReactionGENETIC-VARIATIONCOMMON VARIANTSSingle Nucleotidetert-clptm1l locus; genome-wide association; genetic-variation; susceptibility loci; buccal cells; fibroblasts; common variants; carcinoma; reverse-transcriptase htert; metaanalysisTelomereAetiology screening and detection Immune Regulation [ONCOL 5]Chromatin3. Good healthTumor Markers Biological030220 oncology & carcinogenesisFemaleFIBROBLASTSGenotypeSUSCEPTIBILITY LOCICARCINOMASingle-nucleotide polymorphismBreast NeoplasmsBiologyReal-Time Polymerase Chain ReactionPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancermedicineGeneticsBiomarkers TumorHumansGenetic Predisposition to DiseaseRNA MessengerPolymorphismAlleleGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyMolecular epidemiology Aetiology screening and detection [NCEBP 1]Breast cancer susceptibilityHereditary cancer and cancer-related syndromes [ONCOL 1]Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]Gene Expression ProfilingDNA Methylationmedicine.diseaseMolecular biologyTERT-CLPTM1L LOCUSTelomereMinor allele frequencyAlternative SplicingGenetic LociCase-Control StudiesRNABiomarkersREVERSE-TRANSCRIPTASE HTERTGenome-Wide Association StudyNature genetics
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Boceprevir is highly effective in treatment-experienced hepatitis C virus-positive genotype-1 menopausal women

2014

AIM: To investigate the safety/efficacy of Boceprevirbased triple therapy in hepatitis C virus (HCV)-G1 menopausal women who were historic relapsers, partial-responders and null-responders. METHODS: In this single-assignment, unblinded study, we treated fifty-six menopausal women with HCV-G1, 46% F3-F4, and previous PEG-α/RBV failure (7% null, 41% non-responder, and 52% relapser) with 4 wk lead-in with PEG-IFNα2b/RBV followed by PEGIFNα2b/RBV+Boceprevir for 32 wk, with an additional 12 wk of PEG-IFN-α-2b/RBV if patients were HCV-RNA-positive by week 8. In previous null-responders, 44 wk of triple therapy was used. The primary objective of retreatment was to verify whether a sustained virolo…

Time FactorsViral HepatitisClinical Trials StudyHepacivirusViral hepatitiPolyethylene GlycolPolyethylene Glycolschemistry.chemical_compoundPegylated interferonOdds RatioMultivariate AnalysiPegylated InterferonGastroenterologyGeneral MedicineHepatitis CHepatitis c virus treatmentMiddle AgedRecombinant ProteinViral LoadGenotype 1Recombinant ProteinsMenopauseTreatment OutcomeItalyRNA ViralDrug Therapy CombinationFemaleMenopauseViral hepatitisViral loadPegylated interferonHumanmedicine.drugmedicine.medical_specialtyGenotypeLogistic ModelProlineTime FactorInterferon alpha-2Hepatitis C virus treatmentAntiviral AgentsPharmacotherapyInternal medicineBoceprevirRibavirinmental disordersmedicineHumansAntiviral AgentHepacivirubusiness.industryInterferon-alphaBiomarkerGenotype 1; Hepatitis c virus treatment; Menopause; Pegylated interferon; Viral hepatitis; Antiviral Agents; Biomarkers; Drug Therapy Combination; Female; Genotype; Hepacivirus; Hepatitis C Chronic; Humans; Interferon-alpha; Italy; Logistic Models; Middle Aged; Multivariate Analysis; Odds Ratio; Polyethylene Glycols; Proline; RNA Viral; Recombinant Proteins; Ribavirin; Time Factors; Treatment Outcome; Viral Load; Menopause; GastroenterologyHepatitis C Chronicmedicine.diseaseVirologyLogistic ModelschemistryHepatitis C Virus PositiveMultivariate AnalysisGenotype 1; Hepatitis C virus treatment; Menopause; Pegylated Interferon; Viral HepatitisbusinessBiomarkers
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Analysis of integrated virological and epidemiological reports of norovirus outbreaks collected within the Foodborne Viruses in Europe network from 1…

2008

ABSTRACT The Foodborne Viruses in Europe network has developed integrated epidemiological and virological outbreak reporting with aggregation and sharing of data through a joint database. We analyzed data from reported outbreaks of norovirus (NoV)-caused gastroenteritis from 13 European countries (July 2001 to July 2006) for trends in time and indications of different epidemiology of genotypes and variants. Of the 13 countries participating in this surveillance network, 11 were capable of collecting integrated epidemiological and virological surveillance data and 10 countries reported outbreaks throughout the entire period. Large differences in the numbers and rates of reported outbreaks pe…

Veterinary medicineEpidemiologyMESH : Genotypemedicine.disease_causeDisease OutbreaksFoodborne DiseasesMESH: GenotypeEpidemiologyMedicineMESH: Disease OutbreaksMESH: Caliciviridae InfectionsCaliciviridae Infections0303 health sciencesFood poisoningbiologyTransmission (medicine)Incidence (epidemiology)Gastroenteritis3. Good healthEuropeMESH : GastroenteritisDisease Notification[SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/VirologyMESH : Caliciviridae InfectionsMicrobiology (medical)MESH: Norovirusmedicine.medical_specialtyGenotypeMESH: Disease NotificationMESH : Europe[ SDV.MP.VIR ] Life Sciences [q-bio]/Microbiology and Parasitology/VirologyMESH: Multivariate Analysis03 medical and health sciencesEnvironmental healthHumansMESH : Disease OutbreaksMESH : Foodborne DiseasesMESH: Foodborne DiseasesDisease Notification030304 developmental biologyMESH: Humans030306 microbiologybusiness.industryMESH : NorovirusNorovirusMESH : HumansOutbreakMESH : Multivariate AnalysisMESH : Disease Notificationmedicine.diseasebiology.organism_classificationCaliciviridaeMESH: GastroenteritisMultivariate AnalysisNorovirusMESH: Europebusiness
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Evaluation of vetch (Vicia sativa L) genotypes in semi-arid environment of Italy

2012

Vicia sativa evaluation genotypesSettore AGR/02 - Agronomia E Coltivazioni Erbacee
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Global change in hepatitis C virus prevalence and cascade of care between 2015 and 2020

2022

Background Since the release of the first global hepatitis elimination targets in 2016, and until the COVID-19 pandemic started in early 2020, many countries and territories were making progress toward hepatitis C virus (HCV) elimination. This study aims to evaluate HCV burden in 2020, and forecast HCV burden by 2030 given current trends. Methods This analysis includes a literature review, Delphi process, and mathematical modelling to estimate HCV prevalence (viraemic infection, defined as HCV RNA-positive cases) and the cascade of care among people of all ages (age =0 years from birth) for the period between Jan 1, 2015, and Dec 31, 2030. Epidemiological data were collected from published …

Viremia/epidemiologyGenotype DistributionHepatitis C/epidemiologyHepatologyEpidemiologyGastroenterologyInfant NewbornCOVID-19HepacivirusHepatitis ATodays Treatment ParadigmInfectionsHepatitis CFuture Disease BurdenSDG 3 - Good Health and Well-beingHCVfuture disease burden ; todays treatment paradigm ; genotype distribution ; epidemiology ; infectionsPrevalenceHumansHuman medicineViremiaPandemicsCOVID-19/epidemiologyThe Lancet Gastroenterology and Hepatology
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Distinct Clones of Yersinia pestis Caused the Black Death

2010

From AD 1347 to AD 1353, the Black Death killed tens of millions of people in Europe, leaving misery and devastation in its wake, with successive epidemics ravaging the continent until the 18th century. The etiology of this disease has remained highly controversial, ranging from claims based on genetics and the historical descriptions of symptoms that it was caused by Yersinia pestis to conclusions that it must have been caused by other pathogens. It has also been disputed whether plague had the same etiology in northern and southern Europe. Here we identified DNA and protein signatures specific for Y. pestis in human skeletons from mass graves in northern, central and southern Europe that …

Yersinia pestis[SDV]Life Sciences [q-bio]Sequence HomologyDiseaseMESH: Base SequenceMESH: Genetic Markers[SHS]Humanities and Social SciencesDisease OutbreaksInfectious Diseases/Bacterial InfectionsMESH: GenotypeGenotypeMass ScreeningBiology (General)MESH: Disease OutbreaksMESH: PhylogenyCladePhylogenyGenetics0303 health sciencesMicrobiology/Microbial Evolution and GenomicsbiologyClones; Yersinia pestis; Black DeathBacterialGenetics and Genomics/Microbial Evolution and Genomics3. Good healthEuropeEvolutionary Biology/Human EvolutionInfectious DiseasesResearch ArticleDNA BacterialGenetic MarkersGenotypeQH301-705.5Molecular Sequence DataImmunologyMESH: Yersinia pestisZoologyMolecular Biology/Molecular EvolutionPlague (disease)MESH: PlagueMESH: Sequence Homology Nucleic AcidMicrobiologyNO03 medical and health sciencesPhylogeneticsSequence Homology Nucleic AcidVirologyGeneticsHumansMESH: Mass ScreeningEpidemicsMolecular BiologyMESH: EpidemicsMass screening030304 developmental biologyPlagueEvolutionary BiologyMESH: HumansMESH: Molecular Sequence DataNucleic AcidBase Sequence030306 microbiologyGenetics and GenomicsDNARC581-607biology.organism_classificationMESH: DNA BacterialYersinia pestisBase Sequence; DNA Bacterial; Disease Outbreaks; Epidemics; Europe; Genetic Markers; Genotype; Humans; Mass Screening; Molecular Sequence Data; Phylogeny; Plague; Sequence Homology Nucleic Acid; Yersinia pestisEtiologyParasitologyMESH: EuropeImmunologic diseases. Allergy
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Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.

2020

Mowat-Wilson syndrome is a genetic disorder associated with a variable phenotype including peculiar facial features associated with intellectual disability, epilepsy, language impairment, and multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. The ZEB2 protein is a complex transcription factor that encompasses multiple functional domains that interact with the regulatory regions of target genes including those involved in brain development. Recently, it has been documented that ZEB2 regulates the differentiation of interneuron progenitors migrating from the medial ganglionic eminence to cortical layers by repression of the Nkx2-1 homeobox transcription factor. It…

ZEB2genotype-phenotype correlationSettore MED/38 - Pediatria Generale E SpecialisticaSettore M-PSI/08 - Psicologia ClinicaIntellectual DisabilityHumansMowat-Wilson syndromeEEGgenotype-phenotype correlationSCN1AHirschsprung DiseaseEEGChildGenetic Association StudiesZEB2Zinc Finger E-box Binding Homeobox 2EpilepsyEEG; epilepsy; GABAergic interneurons; genotype-phenotype correlation; Mowat-Wilson syndrome; SCN1A; ZEB2FaciesElectroencephalographySettore MED/39 - Neuropsichiatria InfantileGABAergic interneuronsMowat-Wilson syndromeepilepsyNAV1.1 Voltage-Gated Sodium ChannelGABAergic interneuronsMicrocephalySettore MED/26 - NeurologiaFemaleEpileptic disorders : international epilepsy journal with videotape
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Impact of the growth of different maize genotypes on arbuscular mycorrhizal fungi

2001

International audience

[SDV] Life Sciences [q-bio][SDV.GEN]Life Sciences [q-bio]/Genetics[SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics[SDV]Life Sciences [q-bio]arbuscular mycorrhizal fungi[SDV.GEN] Life Sciences [q-bio]/Genetics[SDV.GEN.GA] Life Sciences [q-bio]/Genetics/Animal geneticsImpact of the growth of different maize genotypesComputingMilieux_MISCELLANEOUS
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