Search results for " Recurrent fevers"

showing 2 items of 2 documents

The impact of the Eurofever criteria and the new Infevers MEFV classification in real life: results from a large international FMF cohort

2022

INTRODUCTION: New Eurofever/PRINTO classification criteria (EPCC) for Familial Mediterranean Fever (FMF) and other recurrent fevers have been recently developed, together with the classification of the pathogenicity of MEFV variants. OBJECTIVES: To evaluate the impact in real life of both the EPCC and INSAID pathogenicity classification of MEFV variants in the large international Eurofever FMF cohort. METHODS: Baseline demographic, genetic and clinical data of FMF patients included in the Eurofever registry were evaluated. The EPCC and the 2018 INSAID classification for MEFV variants were applied in all eligible FMF patients. RESULTS: Since November 2009, clinical information was available …

Male*Genetic analysis*Autoinflammatory diseasesPyrinFamilial Mediterranean fever*Classification criteriaCohort StudiesAnesthesiology and Pain MedicineRheumatologySettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAMutation*Familial mediterranean feverHumansFemale*RegistryRegistriesAutoinflammatory diseases Classification criteria Familial mediterranean fever Genetic analysis Recurrent fevers Registry Cohort Studies Colchicine Female Humans Male Mutation Pyrin Registries Familial Mediterranean FeverColchicine*Recurrent fevers
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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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