Search results for " variatio"

showing 10 items of 1713 documents

Genetic Diversity of HIV-1 Non-B Strains in Sicily: Evidence of Intersubtype Recombinants by Sequence Analysis ofgag,pol, andenvGenes

2007

The molecular epidemiology of HIV-1 strains in Sicily (Italy) was phylogenetically investigated by the analysis of HIV-1 gag, pol, and env gene sequences from 11 HIV-1 non-B strains from 408 HIV-1-seropositive patients observed from September 2001 to August 2006. Sequences suggestive of recombination were further investigated by bootscanning analysis of various fragments. Overall, we identified several second-generation recombinant (SGRs) strains, which contained genetic material of CRF02_AG in at least one gene. Notably, three individuals were found to be infected with subsubtype A3, and one of them showed genetic recombination with subsubtype A4. The current study emphasizes the genetic a…

AdultMaleSUBTYPE-ASequence analysisMolecular Sequence DataImmunologyGene Products gagGene Products polHIV InfectionsBiologySettore MED/42 - Igiene Generale E ApplicataGenetic recombinationGenetic analysisCRF02-AGlaw.inventionSUPERINFECTIONANTIRETROVIRAL THERAPYMOLECULAR EPIDEMIOLOGYlawVirologyHumansPHYLOGENETIC ANALYSISSicilyGeneWEST-AFRICAAgedRecombination GeneticGeneticsGenetic diversityCOMPLEXMolecular epidemiologyStrain (biology)Gene Products envGenetic Variationvirus diseasesSequence Analysis DNAMiddle AgedIMMUNODEFICIENCY-VIRUS TYPE-1VirologyInfectious DiseasesHIV-1CAMEROONRecombinant DNAFemaleAIDS Research and Human Retroviruses
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Variability of reverse transcriptase and overlapping S gene in hepatitis B virus isolates from untreated and lamivudine-resistant chronic hepatitis B…

2009

Background The high degree of diversity of the hepatitis B virus (HBV) quasispecies in chronically infected individuals raises the possibility that HBV genetic variants favouring resistance to nucleoside/nucleotide analogues (NAs) might pre-exist to treatment. The aim of this study was to investigate the genetic variability of the entire HBV reverse transcriptase (RT) domain and of the overlapping S gene in a large series of untreated hepatitis B surface antigen carriers and in lamivudine (3TC)-resistant patients. Methods Sequencing analysis of the entire HBV RT domain of isolates from 100 untreated (treatment- naive group) and 59 3TC-resistant (3TC-resistant group) consecutive patients wit…

AdultMaleSettore MED/07 - Microbiologia E Microbiologia ClinicaHepatitis B virusAdult; Aged; Drug Resistance; Viral; Female; Genetic Variation; Hepatitis B Surface Antigens; Hepatitis B virus; Hepatitis B; Chronic; Humans; Lamivudine; Male; Middle Aged; Mutation; RNA-Directed DNA Polymerase; Reverse Transcriptase Inhibitors; Sequence Analysis; DNA; Treatment OutcomeDrug ResistanceViral quasispeciesmedicine.disease_causeVirusHepatitis B ChronicOrthohepadnavirusDrug Resistance ViralmedicineHumansPharmacology (medical)ViralChronicAgedPharmacologyHepatitis B virusSettore MED/12 - GastroenterologiaHepatitis B Surface AntigensbiologyReverse-transcriptase inhibitorLamivudineGenetic VariationRNA-Directed DNA PolymeraseSequence Analysis DNADNAMiddle Agedbiology.organism_classificationHepatitis BVirologyReverse transcriptaseInfectious DiseasesTreatment OutcomeHepadnaviridaeLamivudineMutationReverse Transcriptase InhibitorsHBV reverse transcriptase gene S lamivudine resistantFemaleSequence Analysismedicine.drug
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T2 Mapping of the Sacroiliac Joints in Patients with Axial Spondyloarthritis

2020

Purpose: To test whether T2 mapping of the sacro-iliac joints (SIJs) might help identifying patients with spondyloarthritis. Method: This study included 20 biologic-naive patients with axial spondyloarthritis (10 females; mean age: 38 ± 9years; range, 19–47) and 27 controls (16 males; mean age = 39 ± 13years; range = 28–71) who prospectively underwent SIJs MRI at 1.5 T, including a multislice multiecho spin-echo sequence. Standard MRIs were reviewed to assess the SIJs according to the Assessment of SpondyloArthritis International Society (ASAS) criteria and SPondyloArthritis Research Consortium of Canada (SPARCC) MRI index. T2 maps obtained from multiecho sequences were used to draw regions…

AdultMaleT2 mappingSacroiliac joint030218 nuclear medicine & medical imagingYoung Adult03 medical and health sciences0302 clinical medicineMagnetic resonance imagingSpondylarthritisChi-square testHumansMedicineRadiology Nuclear Medicine and imagingIn patientMultisliceProspective StudiesSacroiliitisAxial spondyloarthritisBASDAISacroiliitis.Observer Variationbusiness.industrySacroiliitisCurve analysisReproducibility of ResultsGeneral MedicineMiddle Agedmedicine.diseaseCross-Sectional StudiesCartilageCase-Control Studies030220 oncology & carcinogenesisFemalebusinessNuclear medicine
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Tas1R1-Tas1R3 taste receptor variants in human fungiform papillae.

2009

International audience; Monosodium glutamate as well as metabotropic and ionotropic glutamate receptor agonists have been reported to be perceived as umami by humans. In spite of the fact that Tas1R1-Tas1R3 has been shown to mediate most of the glutamate taste sensation in mice other candidate receptors have been put forward for which a clear role in detection is still lacking. This work was aimed at investigating the molecular determinants underlying umami taste detection in humans. First, we show evidence supporting expression of Tas1R1 and Tas1R3 but not mGluRs in the fungiform papillae of several individuals. Next, we report a number of naturally occurring l-glutamate taste receptor var…

AdultMaleTasteTASTE RECEPTORSGlutamic AcidSNPFUNGIFORM PAPILLAEUmamiBiologyLigandsReceptors Metabotropic GlutamatePolymorphism Single NucleotideReceptors G-Protein-CoupledTAS1R103 medical and health sciencesGLUTAMATE0302 clinical medicineTAS1R3Allosteric RegulationTongueTaste receptorHumansProtein IsoformsMSG030304 developmental biologyAgedGenetics0303 health sciencesBinding SitesGeneral Neuroscience[SCCO.NEUR]Cognitive science/NeuroscienceGenetic VariationHUMANMiddle AgedTaste BudsProtein Structure TertiaryTAS2R38BiochemistryTasteTaste Threshold[ SCCO.NEUR ] Cognitive science/NeuroscienceMetabotropic glutamate receptor 1Ionotropic glutamate receptorFemaleUNAMI030217 neurology & neurosurgery
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The planimetric Grothoff's criteria by cardiac magnetic resonance can improve the specificity of left ventricular non-compaction diagnosis in thalass…

2020

We differentiated the left ventricle non-compaction (LVNC) from hypertrabeculated myocardium due to a negative remodeling in thalassemia intermedia (TI) patients applying linear and planimetric criteria and comparing the cardiovascular magnetic resonance (CMR) findings. CMR images were analyzed in 181 TI patients enrolled in the Myocardial Iron Overload in Thalassemia Network and 27 patients with proved LVNC diagnosis. The CMR diagnostic criteria applied in TI patients were: a modified linear CMR Petersen’s criterion based on a more restrictive ratio of diastolic NC/C > 2.5 at segmental level and the combination of planimetric Grothoff’s criteria (percentage of trabeculated LV myocardial…

AdultMaleThalassemia intermedia · Magnetic resonance imaging · Isolated non-compaction of the ventricular myocardium · ventricular remodelingmedicine.medical_specialtyDatabases FactualThalassemiaIronDiastoleMagnetic Resonance Imaging CineVentricular Function LeftDiagnosis DifferentialYoung AdultPredictive Value of TestsInternal medicinemedicineHumansRadiology Nuclear Medicine and imagingVentricular remodelingCardiac imagingObserver VariationIsolated Noncompaction of the Ventricular Myocardiummedicine.diagnostic_testVentricular Remodelingbusiness.industryMyocardiumbeta-ThalassemiaReproducibility of ResultsMagnetic resonance imagingMiddle Agedmedicine.diseaseFibrosismedicine.anatomical_structureVentricleCase-Control StudiesCardiologyFemaleThalassemia intermediaCardiology and Cardiovascular MedicinebusinessCardiac magnetic resonanceCardiomyopathiesBiomarkers
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Analysis of genetic variations of protein tyrosine kinase fyn and their association with alcohol dependence in two independent cohorts.

2003

Abstract Background Decreased sensitivity to and increased tolerance for the effects of alcohol is a phenotype, which was shown to be associated with an increased risk for alcoholism in humans and was observed in protein tyrosine kinase (PTK) fyn knockout mice. Methods We performed an association study of genetic variations of PTK fyn in 430 alcohol-dependent patients and 365 unrelated control subjects from two independent samples. Results In a combined analysis, we found an association of alcohol dependence with the single nucleotide polymorphism (SNP) T137346C in the 5′ untranslated region (UTR) of the gene. A relevant association could be excluded for the remaining two informative SNPs. …

AdultMaleThreonineLinkage disequilibriumGenotypeGlycineSingle-nucleotide polymorphismBiologyProto-Oncogene Proteins c-fynPolymorphism Single NucleotideCohort StudiesFYNGene FrequencyProto-Oncogene ProteinsGenotypeSNPHumansCysteineAlleleBiological PsychiatryGeneticsAlanineChi-Square DistributionAlcohol dependenceGenetic VariationMiddle AgedAlcoholismCase-Control StudiesFemale5' Untranslated RegionsTyrosine kinaseBiological psychiatry
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Trends and Prevalence of Nocturia Among US Adults, 2005-2016

2019

Purpose: Increased nocturia episodes can be a clinical marker of poor health status. The present study aimed to evaluate patterns and temporal trends in nocturia and sociodemographic and lifestyle correlates in the US population. Methods: Participants, aged 20 years or older, were included in this repeated cross-sectional study. The National Health and Nutrition Examination Survey from 2005 to 2016 was used. Participants were asked “During the past 30 days, how many times per night did you most typically get up to urinate, from the time you went to bed at night until the time you got up in the morning?”. Individuals were categorized as either ≥ 1 nocturia episode or ≥ 2 nocturia episodes pe…

AdultMaleTime FactorsNational Health and Nutrition Examination SurveyUrologymedia_common.quotation_subjectPopulation030232 urology & nephrologyClinical marker030204 cardiovascular system & hematologyUrination03 medical and health sciencesYoung AdultSoysal P. Cao C. Xu T. Yang L. Isik A. Turan K. Liu Q. Pizzol D. Veronese N. Demurtas J. et al. -Trends and prevalence of nocturia among US adults 2005-2016.- International urology and nephrology 20190302 clinical medicineAge groupsPrevalenceMedicineNocturiaHumanseducationNocturia · Trend · United States · NHANESMorningmedia_commoneducation.field_of_studybusiness.industryMiddle AgedUnited StatesSecular variationCross-Sectional StudiesNephrologyFemaleNocturiamedicine.symptombusinessDemography
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Primary motor area contribution to attentional reorienting after distraction

2008

The anatomical structures involved in distraction-related processing in the auditory domain were investigated using magnetoencephalography. Participants performed a duration-discrimination task on a sequence of 200 and 400 ms long tones. Infrequent (12%) task-irrelevant pitch changes resulted in slower discriminative responses and more errors. Event-related potentials to these changes show an increased N1, a mismatch negativity, a P3a, and a reorienting negativity. The event-related magnetic fields revealed focal activities in superior and medial temporal areas in the N1/mismatch negativity time range. No significant activity was found in the P3a interval. In the reorienting negativity inte…

AdultMaleTime Factorsgenetic structuresMismatch negativityContingent Negative VariationNeuropsychological Testsbehavioral disciplines and activitiesBrain mappingPitch DiscriminationP3aCognitionOrientationDistractionReaction TimemedicineHumansAttentionEvoked PotentialsAuditory CortexBrain Mappingmedicine.diagnostic_testGeneral NeuroscienceMotor CortexMagnetoencephalographyMagnetoencephalographyElectrophysiologyMemory Short-Termmedicine.anatomical_structureAcoustic StimulationAuditory PerceptionEvoked Potentials AuditoryFemalePrimary motor cortexPsychologyNeurosciencePsychomotor PerformanceMotor cortex
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Influence of sex and genetic variability on expression of X-linked genes in human monocytes

2011

Abstract In humans, the fraction of X-linked genes with higher expression in females has been estimated to be 5% from microarray studies, a proportion lower than the 25% of genes thought to escape X inactivation. We analyzed 715 X-linked transcripts in circulating monocytes from 1,467 subjects and found an excess of female-biased transcripts on the X compared to autosomes (9.4% vs 5.5%, p  −5 ). Among the genes not previously known to escape inactivation, the most significant one was EFHC2 whose 20% of variability was explained by sex. We also investigated cis expression quantitative trait loci (eQTLs) by analyzing 15,703 X-linked SNPs. The frequency and magnitude of X-linked cis eQTLs were…

AdultMaleTranscription GeneticMicroarrayQuantitative Trait LociSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideMonocytesX-inactivationSex FactorsGenes X-LinkedX Chromosome InactivationGene expressionGeneticsHumansGenetic variabilityGeneAgedGeneticsChromosomes Human XAutosomeCalcium-Binding ProteinsGenderGenetic VariationMiddle AgedExpression Quantitative Trait LocusExpression quantitative trait lociFemaleGene expressionGenome-Wide Association StudyGenomics
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Examining task-dependencies of different attentional processes as reflected in the P3a and reorienting negativity components of the human event-relat…

2005

Abstract Unexpected changes in task-irrelevant auditory stimuli are capable to distract processing of task-relevant visual information. This effect is accompanied by the elicitation of event-related potential (ERP) components associated with attentional orientation, i.e. P3a and reorienting negativity (RON). In the present study we varied the demands of a visual task in order to test whether the RON component – as an index of attentional reorientation after distraction – is confined to a semantic task requiring working memory. In two ERP experiments we applied an auditory-visual distraction paradigm in which subjects were instructed to discriminate visual stimuli preceded by a task-irreleva…

AdultMaleVisual perceptionMismatch negativityContingent Negative VariationTask (project management)Developmental psychologyTone (musical instrument)P3aDiscrimination PsychologicalOrientationDistractionReaction TimeHumansAttentionEvoked PotentialsWorking memoryGeneral NeuroscienceBrainElectroencephalographySemanticsFeature (linguistics)Memory Short-TermAcoustic StimulationFemalePsychologyCognitive psychologyNeuroscience Letters
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