Search results for " GENOTYPE"

showing 10 items of 205 documents

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

2017

PubMed ID: 29047407

lcsh:MedicineFamilial Mediterranean feverCaps; Eurofever; FMF; Genotype-phenotype associations; Hereditary recurrent fevers; Infevers; MKD; Traps; Databases Genetic; Europe; Hereditary Autoinflammatory Diseases; Humans; Retrospective Studies; Genetic Association Studies; Registries0302 clinical medicineHereditary recurrent feverInfeversDatabases GeneticPharmacology (medical)030212 general & internal medicineRegistriesGenetics (clinical)EurofeverGeneral MedicineMEFVResponse to treatmentCapHereditary recurrent fevers3. Good healthGenotype-phenotype associationTrapEuropeComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMSInformationSystems_MISCELLANEOUSInflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]medicine.medical_specialtyGenotype-Phenotype AssociationInfever03 medical and health sciencesDatabasesFMFGeneticInternal medicineJournal ArticlemedicineHumansHereditary Recurrent FeversIn patientMKDTrapsGenetic Association StudiesRetrospective Studies030203 arthritis & rheumatologyGenotype-phenotype associationsbusiness.industryResearchlcsh:RComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKSHereditary Autoinflammatory DiseasesRetrospective cohort studymedicine.diseaseHuman geneticsComputingMethodologies_PATTERNRECOGNITIONCapsbusinessCaps; Eurofever; FMF; Genotype-phenotype associations; Hereditary recurrent fevers; Infevers; MKD; Traps; Genetics (clinical); Pharmacology (medical)
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Data from: Multi-modal defenses in aphids offer redundant protection and increased costs likely impeding a protective mutualism

2018

1.The pea aphid, Acyrthosiphon pisum, maintains extreme variation in resistance to its most common parasitoid wasp enemy, Aphidius ervi, which is sourced from two known mechanisms: protective bacterial symbionts, most commonly Hamiltonella defensa, or endogenously encoded defenses. We have recently found that individual aphids may employ each defense individually, occasionally both defenses together, or neither. 2.In field populations, Hamiltonella-infected aphids are found at low to moderate frequencies and while less is known about the frequency of resistant genotypes, they show up less often than susceptible genotypes in field collections. To better understand these patterns, we sought t…

medicine and health careHamiltonella defensaAphidius erviAcyrthosiphon pisumLife SciencesMedicinefood and beveragesnatural enemy defenseInsect symbiosismicrobe mediatedPopulation Ecologygenotype by genotype
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Prevalence estimation of celiac disease in the general adult population of Latvia using serology and HLA genotyping

2015

Background: Prevalence estimates for celiac disease (CD) depend on the method used. The role of deamidated gliadin peptide (DGP) and genetic testing in epidemiological studies and diagnostic settings of celiac disease (CD) has still to be established. Objectives: The objective of this article is to assess the prevalence of CD in Latvia by combining serological tests with DQ2.5/ DQ8 testing. Methods: A total of 1444 adults from a randomly selected cross-sectional general population sample were tested by ELISA for tTG IgA, DGP IgA and IgG antibodies (QUANTA Lite, Inova Diagnostics Inc). Samples with tTG IgA 20U were tested for EMA IgA by indirect immunofluorescence assay, and all specimens wi…

medicine.medical_specialty:MEDICINE [Research Subject Categories]Tissue transglutaminasePopulationSerologyChemiluminescent assaysEpidemiologyGenotypePrevalenceCeliac diseaseMedicineDQ2.5/8 genotypeeducationGenotypingGenetic testingeducation.field_of_studyDeamidated gliadin peptidemedicine.diagnostic_testbiologybusiness.industryTissue transglutaminaseGastroenterologynutritional and metabolic diseasesOriginal ArticlesOncologyImmunologybiology.proteinAntibodybusinessUnited European Gastroenterology Journal
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Prevalence of Genital Human Papilloma Virus Infection and Genotypes among Young Women in Sicily, South Italy

2008

Abstract Infection with oncogenic human papilloma virus (HPV) types is a necessary cause of cervical cancer. This study assessed the prevalence of HPV infection and genotypes among 1,006 randomly selected women, ages 18 to 24 years, living in Sicily (south Italy). The overall HPV rate was 24.1% (95% confidence interval, 21.5-26.9). The most frequent types were HPV-16 (4.5%), HPV-53 (2.7%), and HPV-84 (2.6%). The prevalence of vaccine types HPV-6, HPV-11, and HPV-18 was 1.4%, 0.1%, and 1.3%, respectively. Cytologic abnormalities were uncommon (3.1%) and associated with HPV detection (P < 0.0001). The only risk factor for HPV infection was the number of sexual partners (women with 2-3 …

medicine.medical_specialtyAdolescentGenotypeEpidemiologyYoung AdultEpidemiologymedicinePrevalenceHumansSex organYoung adultPapillomaviridaeRisk factorfemale genotype Human papillomavirusPapillomaviridaeCervical cancerChi-Square Distributionbiologybusiness.industryObstetricsPapillomavirus InfectionsHPV infectionvirus diseasesOdds ratioSexually Transmitted Diseases Viralbiology.organism_classificationmedicine.diseasefemale genital diseases and pregnancy complicationsLogistic ModelsOncologyItalyImmunologyFemalebusiness
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LO3 : Safety and efficacy of the combination daclatasvir-sofosbuvir in HCV genotype 1-mono-infected patients from the french observational cohort ANR…

2015

International audience; no abstract

medicine.medical_specialtyDaclatasvirHepatologySofosbuvir[ SDV ] Life Sciences [q-bio]business.industry[SDV]Life Sciences [q-bio]3. Good healthHcv genotype 1Internal medicineCohortMedicineObservational studybusinessComputingMilieux_MISCELLANEOUSmedicine.drug
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Direct-acting antivirals ombitasvir/paritaprevir/rotonavir+dasabuvir with or without ribavirin in hepatitis C virus (HCV) genotype 1-infected treatme…

2018

Background: The current international multicentre open-label, uncontrolled, real-world retrospective study aimed at evaluating the effectiveness and safety of ombitasvir / paritaprevir / ritonavir + dasabuvir ± ribavirin (3D therapy) in treatment-naive and treatment-experienced hepatitis C virus (HCV) genotype 1-infected (GT1) patients. Methods: Adult patients with chronic HCV GT1 infection, scheduled for 3D therapy according to therapeutic guidelines, were eligible. Demographic and clinical data were collected retrospectively by reviewing individuals health records. The primary effectiveness endpoint was the sustained virological response at 12 weeks following the end of treatment (SVR12).…

medicine.medical_specialtyDasabuvirCirrhosisHepatologymedicine.diagnostic_testbusiness.industryRibavirinmedicine.diseaseOmbitasvir03 medical and health scienceschemistry.chemical_compoundRegimen0302 clinical medicineInfectious DiseaseschemistryParitaprevirInternal medicinemedicine030211 gastroenterology & hepatologyRitonavir030212 general & internal medicineChronic hepatitis C ; genotype-1HCV ; ombitasvir ; paritaprevir ; dasabuvir ; cirrhosis ; liver transplant ; 3D therapyLiver function testsbusinessmedicine.drug
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Treatment outcomes in hepatitis C virus genotype 1a infected patients with and without baseline NS5A resistance‐associated substitutions

2020

Background&aims The presence of baseline resistance-associated substitutions (RASs) reduced sustained virologic response (SVR) rates in chronic hepatitis C virus (HCV) genotype 1a infected patients treated with Elbasvir/Grazoprevir (EBR/GZR). This study aimed to evaluate the frequency of NS5A RASs and treatment outcomes in patients for whom EBR/GZR was intended. Methods We sequenced NS5A in 832 samples from German genotype1a-infected DAA-naive patients population-based, which were collected in the European Resistance Database. Treatment outcomes and clinical parameters were evaluated in 519 of these patients retrospectively. Results Overall, 6.5% of patients harbored EBR-specific NS5A RASs …

medicine.medical_specialtyElbasvirHepatologybusiness.industryHepatitis C virusTreatment outcomemedicine.disease_causeGastroenterology03 medical and health sciences0302 clinical medicineGenotype 1bGrazoprevir030220 oncology & carcinogenesisInternal medicineHepatitis C virus genotypeMedicine030211 gastroenterology & hepatologyIn patientbusinessNS5ALiver International
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Resistance-associated substitutions in patients with chronic hepatitis C virus genotype 4 infection

2020

Data on the prevalence of resistance-associated substitutions (RASs) and their implications for treatment with direct-acting antivirals (DAAs) are sparse in European patients with HCV genotype 4. This study investigated RASs before and after DAA failure in different genotype 4 subtypes and evaluated retreatment efficacies. Samples of 195 genotype 4-infected patients were collected in the European Resistance Database and investigated for NS3, NS5A and NS5B RASs. Retreatment efficacies in DAA failure patients were analysed retrospectively. After NS5A inhibitor (NS5Ai) failure, subtype 4r was frequent (30%) compared to DAA-naive patients (5%) and the number of NS5A RASs was significantly highe…

medicine.medical_specialtyGenotypeHepatitis C virusMedizinHCV genotype 4HepacivirusViral Nonstructural Proteinsmedicine.disease_causeGastroenterologyAntiviral AgentsVirus03 medical and health scienceschemistry.chemical_compound0302 clinical medicineResistance-associated substitutionsChronic hepatitisMembrane interactionVirologyInternal medicineGenotypeDrug Resistance ViralmedicineHumansIn patient030212 general & internal medicineTreatment FailureNS5ANS5BRetrospective Studiesddc:616Hepatologybusiness.industryHepatitis C virusvirus diseasesHepatitis C Chronicdigestive system diseasesInfectious DiseaseschemistryRetreatmentDAA failure030211 gastroenterology & hepatologybusiness
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CRT-724 Can the Aortic Wall Communicate with Us?

2014

Association between aortic aneurysm wall and risk of rupture or dissection. Aortic specimens were obtained from 73 patients (51 men and 22 women, whose median age 61.7± 10.7 years) undergoing surgical repair of thoracic ascending aneurysm (TAA). Histopathological and immunohistochemical analyses

musculoskeletal diseasesSurgical repairmedicine.medical_specialtybusiness.industrygenotypeaortic wallSettore MED/23 - Chirurgia CardiacaDissection (medical)medicine.diseaseAneurysmSurgeryAortic wallAneurysm aortic wall genotypeAortic aneurysmAneurysmcardiovascular systemmedicineCardiology and Cardiovascular MedicinebusinessJACC: Cardiovascular Interventions
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Oil composition of homozygous and heterozygous plants of Citrus clementina Hort. ex Tan.

2010

oil composition clementine genotype
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