0000000000228468

AUTHOR

Martina Finetti

showing 6 related works from this author

Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Two

2017

lcsh:Diseases of the musculoskeletal systemlcsh:RJ1-570lcsh:Pediatricslcsh:RC925-935Meeting Abstracts
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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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ASSESSING THE CLINICAL RELEVANCE AND RISK MINIMIZATION OF ANTIBODIES TO BIOLOGICS IN JUVENILE IDIOPATHIC ARTHRITIS (JIA) (ABIRISK) - PRELIMINARY RESU…

2018

Introduction: ABIRISK is a project funded by Innovative Medicine Initiative, with the aim to investigate anti-drug antibody (ADA) formation in the treatment of JIA with biologics (BPs). A major limitation to the use of biologics is the development of ADA that may decrease the efficacy of BPs. Objectives: The aim of this project is to improve the capability to predict biologic immunogenicity in JIA patients. Methods: JIA Patients (by ILAR criteria) followed by 24 PRINTO centres in 12 countries were prospectively enrolled and treated with Etanercept, Adalimumab or Tocilizumab. Patient’s data were obtained from Pharmachild, a pharmacovigilance data registry of JIA patients. For each patient de…

Settore MED/38 - Pediatria Generale E SpecialisticaJIA ABIRISK
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A national cohort study on pediatric Behçet's disease: Cross-sectional data from an Italian registry

2017

Abstract Background Behçet’s disease is a rare multi-systemic inflammatory disease with unknown etiology which involves principally oral and genital mucosa, skin and eyes. Average age at onset of the disease is about 25-30 years, but it may be diagnosed before the age of 16. It is not very rare in Italy, even though there are limited data concerning epidemiology. Aim of this study is to describe the baseline data of an Italian cohort of patients with as having BD or probable BD. Methods We described the baseline data of the first national epidemiological study on children coming from 16 Italian Pediatric Rheumatologic Centers diagnosed by the treating physicians as having Behçet’s Disease. …

Malelcsh:Diseases of the musculoskeletal systemDiagnostic criteriaCross-sectional studyConstitutional symptomsBehcet's diseasePediatricsCohort StudiesBehçet’s diseaseBiological Factors0302 clinical medicineEpidemiologyImmunology and AllergyLongitudinal StudiesRegistries030212 general & internal medicineBehçet’s disease Children Clinical features Diagnostic criteria Treatment Pediatrics Perinatology and Child Health Rheumatology Immunology and AllergyChildChildrenBehçet's disease; Children; Clinical features; Diagnostic criteria; Treatment; Adolescent; Behcet Syndrome; Biological Factors; Child; Cohort Studies; Cross-Sectional Studies; Female; Glucocorticoids; Humans; Immunosuppressive Agents; Italy; Longitudinal Studies; Male; Registries; Pediatrics Perinatology and Child Health; Rheumatology; Immunology and Allergyeducation.field_of_studyBehçet's diseaseBehcet Syndromelcsh:RJ1-570Perinatology and Child HealthItalySettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICACohortFemaleImmunosuppressive AgentsResearch ArticleCohort studyBehçet's disease; Children; Clinical features; Diagnostic criteria; Treatment; Pediatrics Perinatology and Child Health; Rheumatology; Immunology and Allergymedicine.medical_specialtyAdolescentPopulationBehçet's disease03 medical and health sciencesRheumatologyInternal medicinemedicineHumansBehçet's disease; Children; Clinical features; Diagnostic criteria; Treatment; Pediatrics Perinatology and Child Health; Rheumatology; Immunology and AllergyeducationGlucocorticoids030203 arthritis & rheumatologybusiness.industrylcsh:PediatricsClinical featuresmedicine.diseaseTreatmentCross-Sectional StudiesClinical featurePediatrics Perinatology and Child HealthEtiologylcsh:RC925-935business
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Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

2017

lcsh:Diseases of the musculoskeletal systemlcsh:RJ1-570lcsh:Pediatricslcsh:RC925-935Meeting Abstracts
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Significance of I313V mutation of NLPR3 gene in two pediatric patients

2011

Results Both case #1 (M.T) and #2 (V.C) displayed a mild clinical phenotype (episodes of urticarial rash and arthralgia associated with elevation of acute phase reactants), compatible with FCAS and Muckle-Wells syndrome, respectively. Both patients displayed good response to NSAID and/or steroid on demand. Compared to HD controls, patients displayed enhanced and delayed IL1b secretion. This was accompanied by higher levels of lL1Ra and IL-6 without any significant differences in IL-8. Interestingly, parents carrying the mutation also displayed higher levels of secreted IL-1b compared to HD control group. Conclusion The I313V mutation is associated with a mild CAPS phenotype and with an incr…

medicine.medical_specialtyMutationlcsh:Diseases of the musculoskeletal systembusiness.industryAcute-phase proteinlcsh:RJ1-570lcsh:Pediatricsmedicine.disease_causePhenotypeRheumatologyEndocrinologyRheumatologyUrticarial rashInternal medicineOn demandPoster PresentationPediatrics Perinatology and Child HealthmedicineImmunology and AllergySecretionPediatrics Perinatology and Child Healthlcsh:RC925-935businessGenePediatric Rheumatology
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