0000000000774693

AUTHOR

Viviana Gelardi

showing 2 related works from this author

Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A S…

2020

This study explores demographic, clinical, and therapeutic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a cohort of 80 patients recruited from 19 Italian referral Centers. Patients’ data were collected retrospectively and then analyzed according to age groups (disease onset before or after 16 years) and genotype (high penetrance (HP) and low penetrance (LP) TNFRSF1A gene variants). Pediatric- and adult-onset were reported, respectively, in 44 and 36 patients; HP and LP variants were found, respectively, in 32 and 44 cases. A positive family history for recurrent fever was reported more frequently in the pediatric group than in the adult group (p<0.05…

0301 basic medicinemyalgiaMaleAbdominal painSettore MED/16 - REUMATOLOGIATNFRSF1AGene mutationGastroenterology0302 clinical medicinePathologyMedicineRB1-214PericarditisChildPrognosisPenetranceInflamacióFamilial Mediterranean FeverAIDA networkEstudi de casosReceptors Tumor Necrosis Factor Type IChild PreschoolAutoinflammationFemalemedicine.symptomResearch ArticleAdultmedicine.medical_specialtyArticle SubjectAdolescentGenotypetumor necrosis factorImmunologyContext (language use)Asymptomatic03 medical and health sciencesYoung AdultInternal medicineAnimalsHumansRetrospective Studies030203 arthritis & rheumatologyInflammationbusiness.industrytumor necrosis factor TRAPS AIDA networkTumor Necrosis Factor-alphaInfantTRAPSCell BiologyMyalgiaBiological productmedicine.disease030104 developmental biologyMutationCase studiesbusinessKidney diseaseMediators of Inflammation
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Development and Implementation of the AIDA International Registry for Patients With Undifferentiated Systemic AutoInflammatory Diseases

2022

ObjectiveThis paper points out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to pediatric and adult patients affected by Undifferentiated Systemic AutoInflammatory Diseases (USAIDs).MethodsThis is an electronic registry employed for real-world data collection about demographics, clinical, laboratory, instrumental and socioeconomic data of USAIDs patients. Data recruitment, based on the Research Electronic Data Capture (REDCap) tool, is designed to obtain standardized information for real-life research. The instrument is endowed with flexibility, and it could change over time according to the scientific acquisitions an…

RegistrySettore MED/16 - REUMATOLOGIAprecision medicinerare diseasesGeneral Medicinepersonalized medicineautoinflammatory diseasesInternational RegistrySettore MED/38 - Pediatria Generale E Specialisticaautoinflammatory diseaseAutoinflammationHuman medicineInternational Registry; autoinflammatory diseases; personalized medicine; precision medicine; rare diseasesautoinflammatory diseases; International Registry; personalized medicine; precision medicine; rare diseases
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