Search results for "Familial Mediterranean fever"

showing 3 items of 23 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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AB0715 THE PREVALENCE OF FIBROMIYALGIA IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THE RELATIONSHIP BETWEEN FATIGUE AND QUALITY OF LIFE

2021

Background:Familial Mediterranean Fever (FMF) can cause various muscle diseases. Because it is a chronic auto inflammatory disease, painful trigger points may be encountered in the examination due to a decrease in the pain threshold (1-3).Objectives:The aim of this study was to determine the prevalence of Fibromiyalgia in patients with FMF, at the same time to identify the relationship between fatigue and quality of life.Methods:Sixtyseven patients (38 female, 29 male) with FMF were enrolled in the study. They were diagnosed with FMF based on the Livneh diagnostic criteria (4). Fibromyalgia involvement of the patients was evaluated according to the Fibromyalgia Impact Questionnaire (FIQ). P…

medicine.medical_specialtybusiness.industryImmunologyFamilial Mediterranean fevermedicine.diseaseGeneral Biochemistry Genetics and Molecular BiologyRheumatologyRheumatologyQuality of lifeFibromyalgiaInternal medicineThreshold of painImmunology and AllergyMedicineFamily historybusinessBody mass indexDepression (differential diagnoses)Annals of the Rheumatic Diseases
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Early Treatment of Systemic Juvenile Idiopathic Arthritis with Canakinumab and Complete Remission After 2 Years of Treatment Suspension: Case Report …

2019

Systemic juvenile idiopathic arthritis (sJIA) is an autoinflammatory disease characterised by fever and arthritis. We describe the case of a 14-year-old girl hospitalised with fever associated with rash, myalgia, arthralgia and polyarticular involvement. Examinations revealed increased levels of C-reactive protein, erythrocyte sedimentation rate, ferritin, triglycerides, leukocytes, neutrophils, lactate dehydrogenase, fibrinogen, aspartate aminotransferase (AST), alanine aminotransferase (ALT) and γ-glutamyl transferase (GGT). Bone marrow biopsy showed polyclonal leukocyte activation. A genetic study revealed a heterozygous mutation of the MEFV gene, c.442G>C (E148Q), which is typical of…

myalgiaAbdominal painmedicine.medical_specialtyTime FactorsAdolescentCanakinumabFamilial Mediterranean feverArthritisCase Report030204 cardiovascular system & hematologyAntibodies Monoclonal Humanized030226 pharmacology & pharmacyGastroenterology03 medical and health sciences0302 clinical medicineautoinflammatory diseaseInternal medicinemedicineHumansPharmacology (medical)medicine.diagnostic_testbusiness.industryRemission InductionAntibodies MonoclonalGeneral MedicineExanthemamedicine.diseaseMEFVRashdigestive system diseasesArthritis JuvenileCanakinumabTreatment OutcomeErythrocyte sedimentation rateSystemic juvenile idiopathic arthritiFemalemedicine.symptombusinessmedicine.drug
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