Search results for "genotypes"

showing 10 items of 53 documents

Apoe genotypes and brain imaging classes in normal cognition, mild cognitive impairment, and alzheimer’s disease: A longitudinal study

2020

Objective: To evaluate in 419 stroke-free cognitively normal subjects (CN) aged 45-82 years covering during a long prospective study (11.54 ± 1.47 years) the preclinical to dementia spectrum: 1) the distribution of small vessel disease (V) and brain atrophy (A) aggregated as following: V−/A−, V−/A+, V+/A−, V+/A+; 2) the relationship of these imaging classes with individual apolipoprotein E (APOE) genotypes; 3) the risk of progression to Alzheimer Disease (AD) of the individual APOE genotypes. Methods: Participants underwent one baseline (t0), and 4 clinical and neuropsychological assessments (t1,t2,t3, and t4). Brain MRI was performed in all subjects at t0, t2, t3 and t4.. White matter hyp…

MaleApolipoprotein Emedicine.medical_specialtyGenotypeApolipoprotein E4NeuroimagingNeuropsychological TestsAPOE genotypes Brain imaging classes Caudate atrophy Global cerebral atrophy Lacunes White matter hyperintensities Aged Aged 80 and over Alzheimer Disease Apolipoprotein E4 Apolipoproteins E Brain Case-Control Studies Cognitive Dysfunction Disease Progression Female Genotype Humans Longitudinal Studies Magnetic Resonance Imaging Male Middle Aged Neuroimaging Neuropsychological Tests Risk Factorsbrain imaging classesApolipoproteins EAtrophyNeuroimagingAlzheimer DiseaseRisk FactorsInternal medicineGlobal brain atrophymedicineHumansDementiaCognitive DysfunctionLongitudinal Studiescaudate atrophyAgedglobal cerebral atrophyAged 80 and overAPOE genotypesbusiness.industryNeuropsychologyBrainMiddle Agedwhite matter hyperintensitiesmedicine.diseaseMagnetic Resonance ImagingHyperintensityNeurologyCase-Control StudiesDisease ProgressionCardiologyFemaleNeurology (clinical)Alzheimer's diseasebusiness
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Clinical features and comorbidity pattern of HCV infected migrants compared to native patients in care in Italy: A real-life evaluation of the PITER …

2021

Background: Direct-acting antivirals are highly effective for the treatment of hepatitis C virus (HCV) infection, regardless race/ethnicity. We aimed to evaluate demographic, virological and clinical data of HCV-infected migrants vs. natives consecutively enrolled in the PITER cohort. Methods: Migrants were defined by country of birth and nationality that was different from Italy. Mann-Whitney U test, Chi-squared test and multiple logistic regression were used. Results: Of 10,669 enrolled patients, 301 (2.8%) were migrants: median age 47 vs. 62 years, (p < 0.001), females 56.5% vs. 45.3%, (p < 0.001), HBsAg positivity 3.8% vs. 1.4%, (p < 0.05). Genotype 1b was prevalent in both gro…

MaleHCV genotypesEthnic groupLinked-to-care patientComorbidityHepacivirusLogistic regressionmedicine.disease_causeComorbidities; Direct acting antivirals; HCV Cohort; Linked-to-care patients; Aged; Antiviral Agents; Coinfection; Comorbidity; Female; Hepacivirus; Hepatitis C Chronic; Humans; Italy; Male; Middle Aged; Transients and MigrantsComorbidities0302 clinical medicineMedicineComorbidities; Direct acting antivirals; HCV Cohort; Linked-to-care patientsChronicTransients and MigrantsCoinfectionGastroenterologyvirus diseasesMiddle AgedHepatitis CLife evaluationItaly030220 oncology & carcinogenesisLinked-to-care patientsCohort030211 gastroenterology & hepatologyFemaleComorbiditieHumanHepatitis C virusSettore MED/12 - GASTROENTEROLOGIAAntiviral AgentsDirect acting antivirals03 medical and health sciencesDisease severityHumansAgedAntiviral AgentHepaciviruHepatologybusiness.industrySettore MED/09 - MEDICINA INTERNAHepatitis C Chronicmedicine.diseaseComorbiditydigestive system diseasesDirect acting antiviralHCV CohortbusinessDemography
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Muscle-Related Polymorphisms (MSTN rs1805086 and ACTN3 rs1815739) Are Not Associated with Exceptional Longevity in Japanese Centenarians

2016

Myostatin (MSTN) and α-actinin-3 (ACTN3) genes are potentially associated with preservation of muscle mass and oxidative capacity, respectively. To explore the possible role of these genes in exceptional longevity (EL), the allele/genotype frequency distribution of two polymorphisms in MSTN (rs1805086, K153R) and ACTN3 (rs1815739, R577X) was studied in Japanese centenarians of both sexes (n = 742) and healthy controls (n = 814). The rs1805086 R-allele (theoretically associated with muscle mass preservation at the expense of oxidative capacity) was virtually absent in the two groups, where genotype distributions were virtually identical. Likewise, no differences in allele (p = 0.838 (women);…

MaleMetabolic Processes0301 basic medicineAgingHeredityPhysiologyAging and Cancerlcsh:MedicinePolimorfismo genéticoGenética humanaBiochemistry0302 clinical medicineGene FrequencyJapanPolymorphism (computer science)GenotypeMedicine and Health SciencesMorphogenesisActininlcsh:ScienceMusculoskeletal SystemProtein Metabolismmedia_commonGeneticseducation.field_of_studyMultidisciplinaryMusclesCancer Risk FactorsLongevityMuscle DifferentiationGenetic MappingOncologyPopulation SurveillanceFemaleAnatomyResearch ArticleAsian Continental Ancestry Groupmedicine.medical_specialtyGenotypemedia_common.quotation_subjectLongevityAncianoPopulationMuscle TissueVariant GenotypesBiology03 medical and health sciencesAsian PeopleInternal medicineGeneticsmedicineHumansAlleleeducationAllele frequencyAllelesGenetic Association StudiesPolymorphism Geneticlcsh:RBiology and Life SciencesMyostatinGenotype frequencyBiological TissueMetabolism030104 developmental biologyEndocrinologySkeletal MusclesLongevidadlcsh:QPhysiological ProcessesXX GenotypeOrganism Development030217 neurology & neurosurgeryDevelopmental BiologyPLOS ONE
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Epidemiological profile of 806 Italian children with hepatitis C virus infection over a 15-year period

2007

BACKGROUND & AIMS: The natural course of chronic hepatitis C (CHC) in children is not well understood. The aim of this study was to assess the long-term course of CHC in a large sample of otherwise healthy children. METHODS: From 1990 to 2005, 504 consecutive antihepatitis C virus (HCV)-positive children were enrolled at 12 centers of a national observatory and were followed up retrospectively/prospectively. RESULTS: Putative exposure was perinatal in 283 (56.2%) cases, parenteral in 158 (31.3%), and unknown in 63 (12.5%). At baseline, 477 (94.6%) cases were HCV RNA seropositive, 118 (24.7%) of which were treated with standard interferon alpha. Ten years after putative exposure, the out…

MalePediatricsEpidemiologyInfectious Disease TransmissionCHILDRENHepacivirusmedicine.disease_causeGENOTYPES HCVRisk FactorsEpidemiologyPrevalenceVerticalChronicYoung adultChildHCV infection in childrenbiologyHepatitis C virus (HCV)Hepatitis CANTI-HCVHepatitis CItalyChild PreschoolHCVFemaleViral diseaseAdultmedicine.medical_specialtyEpidemiology of HCV infectionGenotypepediatricsHepatitis C virusSocio-culturaleEnzyme-Linked Immunosorbent AssayFlaviviridaeHCV vertical transmissionmedicineHumansBlood TransfusionSex DistributionPreschoolRetrospective StudiesEpidemiology of HCV infection; HCV infection in children; HCV vertical transmission; Hepatitis C virus (HCV); Adult; Blood Transfusion; Child; Child Preschool; Enzyme-Linked Immunosorbent Assay; Female; Genotype; Hepacivirus; Hepatitis C; Hepatitis C Antibodies; Hepatitis C Chronic; Humans; Infant; Infectious Disease Transmission Vertical; Italy; Male; Prevalence; Retrospective Studies; Risk Factors; Sex Distribution; HepatologyHepatologybusiness.industryHIVInfantRetrospective cohort studyHepatitis C AntibodiesHepatitis C Chronicmedicine.diseasebiology.organism_classificationHEPATITIS HCVInfectious Disease Transmission VerticalEl NiñoImmunologybusiness
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A 3-week feed restriction after weaning as an alternative to a medicated diet: effects on growth, health, carcass and meat traits of rabbits of two g…

2017

Feed restriction after weaning is widely used in meat rabbit farms to promote health and reduce mortality, but this practice impacts negatively on rabbit growth and slaughter performance. This study compared a 3-week post-weaning feed restriction with ad libitum medicated feeding, evaluating effects on feed intake, growth, health, carcass and meat quality of rabbits of two genotypes: Italian White pure breed and Hycole hybrid×Italian White crossbred. A total of 512 rabbits at 36 days of age, of both sexes and two genotypes, were divided into four homogeneous groups assigned, from 36 to 57 days of age, to different feeding programmes (FP): restricted non-medicated (R-N), ad libitum non-medic…

MaleSettore AGR/19 - Zootecnica Speciale040301 veterinary sciencesAnimal feedgenotypegrowthWeaningBreedingfeed restriction; genotypes; growth; health; meat;BiologySF1-1100CrossbreedFeed conversion ratiofeed restriction0403 veterinary scienceEatingmeatAnimal sciencegenotypesmedicineAnimalsWeaningCompensatory growth (organism)Dry matterbusiness.industry0402 animal and dairy sciencehealth04 agricultural and veterinary sciencesAnimal Feed040201 dairy & animal scienceDietAnimal cultureBiotechnologyTendernessPhenotypeFemaleAnimal Science and ZoologyRabbitsmedicine.symptomFood DeprivationbusinessPurebredAnimal
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Phylogenetic Analysis of isolates from new cases of HBV infection in Southern Italy.

2012

The level of endemicity of hepatitis B virus (HBV) infections in Italy is low and genotype D infections predominant. New HBV strains may however be introduced as a result of movements of people from regions of high endemicity. The aim of the present study was to determine whether strains from new cases of acute hepatitis B detected in southern Italy were due to endemic or new HBV strains. We studied 34 isolates from patients with acute hepatitis B infection, and 35 from chronic hepatitis B patients. A phylogenetic analysis of preS/S region was done by comparing the sequences from the acute and chronic cases with references sequences. The study showed that 44% of strain from acute hepatitis …

Microbiology (medical)AdultMalemedicine.medical_specialtyHepatitis B virusSettore MED/07 - Microbiologia E Microbiologia ClinicaGenotypeBiologymedicine.disease_causeMicrobiologyLiver diseaseEpidemiologyGenotypeGeneticsmedicineHumansMolecular BiologyEcology Evolution Behavior and SystematicsPhylogenyAgedHepatitis B virusAged 80 and overMolecular EpidemiologySettore MED/12 - GastroenterologiaMolecular epidemiologyPhylogenetic treeSequence Analysis DNAHepatitis BMiddle Agedmedicine.diseaseHepatitis BVirologyInfectious DiseasesItalyImmunologyDNA ViralFemaleViral hepatitisHBV genotypes molecular epidemiology Acute HBV infection phylogenetic analysis
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Impact of Vaccination on Rotavirus Genotype Diversity: A Nearly Two-Decade-Long Epidemiological Study before and after Rotavirus Vaccine Introduction…

2022

Sicily was the first Italian region to introduce rotavirus (RV) vaccination with the monovalent G1P[8] vaccine Rotarix® in May 2012. In this study, the seasonal distribution and molecular characterization of RV strains detected over 19 years were compared to understand the effect of Rotarix® on the evolutionary dynamics of human RVs. A total of 7846 stool samples collected from children < 5 years of age, hospitalized with acute gastroenteritis, were tested for RV detection and genotyping. Since 2013, vaccine coverage has progressively increased, while the RV prevalence decreased from 36.1% to 13.3% with a loss of seasonality. The local distribution of RV genotypes changed over th…

Microbiology (medical)Settore MED/07 - Microbiologia E Microbiologia ClinicarotaviruInfectious Diseasesantigenic epitopeGeneral Immunology and MicrobiologyRotarixgenotypevaccinerotavirus; genotypes; vaccine; Rotarix; antigenic epitopesImmunology and AllergyMolecular BiologyPathogens
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Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumpti…

2011

Alcohol consumption is a moderately heritable trait, but the genetic basis in humans is largely unknown, despite its clinical and societal importance. We report a genome-wide association study meta-analysis of ∼2.5 million directly genotyped or imputed SNPs with alcohol consumption (gram per day per kilogram body weight) among 12 population-based samples of European ancestry, comprising 26,316 individuals, with replication genotyping in an additional 21,185 individuals. SNP rs6943555 in autism susceptibility candidate 2 gene ( AUTS2 ) was associated with alcohol consumption at genome-wide significance ( P = 4 × 10 −8 to P = 4 × 10 −9 ). We found a genotype-specific expression of AUTS2 in 9…

Netherlands Twin Register (NTR)alcohol consumptionPopulationautismSingle-nucleotide polymorphismGenome-wide association studygenome-wide analysis; epidemiologic; transcriptional expression analysis; alcohol consumption; autismBiologyQuantitative trait locus03 medical and health sciences0302 clinical medicineSDG 3 - Good Health and Well-beingADDICTIVE BEHAVIORDEPENDENCEGenotype/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicineSNPeducationGenotyping030304 developmental biologyGenetics0303 health scienceseducation.field_of_studyMultidisciplinaryepidemiologicMENAlcohol Drinking/genetics; Alcohol Drinking/metabolism; Animals; Drosophila melanogaster/genetics; Drosophila melanogaster/metabolism; European Continental Ancestry Group/genetics; Female; Gene Expression Regulation/genetics; Genome-Wide Association Study; Genotype; Humans; Male; Mice; Nuclear Proteins/biosynthesis; Nuclear Proteins/genetics; Polymorphism Single Nucleotide; Proteins/genetics; Proteins/metabolism; Quantitative Trait HeritableBiological Sciencesmedicine.diseaseGENOTYPES3. Good healthDROSOPHILA/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingAutismtranscriptional expression analysis030217 neurology & neurosurgerygenome-wide analysisProceedings of the National Academy of Sciences of the U.S.A.
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A Prognostic Model for Estimating the Time to Virologic Failure in HIV-1 Infected Patients Undergoing a New Combination Antiretroviral Therapy Regimen

2011

Abstract Background HIV-1 genotypic susceptibility scores (GSSs) were proven to be significant prognostic factors of fixed time-point virologic outcomes after combination antiretroviral therapy (cART) switch/initiation. However, their relative-hazard for the time to virologic failure has not been thoroughly investigated, and an expert system that is able to predict how long a new cART regimen will remain effective has never been designed. Methods We analyzed patients of the Italian ARCA cohort starting a new cART from 1999 onwards either after virologic failure or as treatment-naïve. The time to virologic failure was the endpoint, from the 90th day after treatment start, defined as the firs…

OncologyMaleAdult; Anti-HIV Agents; Cohort Studies; Drug Therapy Combination; Female; HIV Infections; HIV-1; Humans; Male; Middle Aged; Proportional Hazards Models; Treatment Failure; Viral LoadHIV InfectionsCohort Studies0302 clinical medicineANTIRETROVIRAL THERAPYMedicineHIV Infection030212 general & internal medicineTreatment Failure0303 health sciencesHealth PolicyMiddle AgedViral Load3. Good healthComputer Science ApplicationsCensoring (clinical trials)CohortCombinationlcsh:R858-859.7Drug Therapy CombinationFemaleViral loadHumanResearch ArticleCartAdultmedicine.medical_specialtyAnti-HIV AgentsHIV-1; antiretroviral therapyHealth InformaticsSettore MED/17 - MALATTIE INFETTIVElcsh:Computer applications to medicine. Medical informatics03 medical and health sciencesDrug TherapyInternal medicineHumansSurvival analysisProportional Hazards Models030306 microbiologybusiness.industryProportional hazards modelAdult; Anti-HIV Agents; Cohort Studies; Drug Therapy Combination; Female; HIV Infections; HIV-1; Humans; Male; Middle Aged; Proportional Hazards Models; Treatment Failure; Viral Load; Health Informatics; Health PolicyANTIRETROVIRAL DRUGSAnti-HIV AgentHIVGENOTYPESDiscontinuationRegimenImmunologyProportional Hazards ModelHIV-1Cohort StudiebusinessBMC Medical Informatics and Decision Making
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Predominio del genotipo G9 de rotavirus en Valencia y Castellón entre 2005 y 2007

2010

Resumen: Introducción: Las infecciones por rotavirus son la causa más frecuente de gastroenteritis aguda en la infancia. Existen disponibles vacunas para su prevención, pero su uso todavía es limitado y estos virus continúan infectando a la población infantil, principalmente en los meses fríos del año. Objetivos: Caracterizar los genotipos G (VP7) y P (VP4) de rotavirus detectados en niños con gastroenteritis aguda y determinar la prevalencia de las cepas de rotavirus con genotipo G9 en 3 departamentos de Salud Pública de la Comunidad Valenciana. Pacientes y métodos: Se estudiaron de forma prospectiva 541 muestras de heces de niños con gastroenteritis desde octubre de 2005 a septiembre de 2…

RotavirusRotavirusPediatrics Perinatology and Child HealthGenotypesmedicineBiologymedicine.disease_causeHumanitiesPediatricsRJ1-570GastroenteritisAnales de Pediatría
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