0000000000650939

AUTHOR

S Martino

showing 4 related works from this author

Musculoskeletal manifestations of childhood cancer and differential diagnosis with juvenile idiopathic arthritis (ONCOREUM): a multicentre, cross-sec…

2021

Summary Background Presenting symptoms of childhood cancers might mimic those of rheumatic diseases. However, the evidence available to guide differential diagnosis remains scarce. Preventing wrong or delayed diagnosis is therefore important to avoid incorrect administration of glucocorticoid or immunosuppressive therapy and worsening of prognosis. As such, we aimed to assess the prevalence and characteristics of presenting musculoskeletal manifestations in patients at cancer onset and to identify the factors that differentiate childhood malignancies with arthropathy from juvenile idiopathic arthritis. Methods We did a multicentre, cross-sectional study at 25 paediatric haemato-oncology cen…

medicine.medical_specialtybusiness.industryImmunologyArthritisCancerOdds ratioMusculoskeletal manifestationJuvenile idiopathic arthritismedicine.diseaseHistiocytosisRheumatologySettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAPrednisoneInternal medicineJoint painArthropathyMusculoskeletal manifestations childhood cancer juvenile idiopathic arthritismedicinechildhood cancerImmunology and AllergyDifferential diagnosismedicine.symptombusinessmedicine.drug
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Canakinumab in Systemic Juvenile Idiopathic Arthritis: Clinical Inactive Disease Rate and Safety in Italian Patients

2020

Introduction: Systemic juvenile idiopathic arthritis (sJIA) accounts for 10-20% of all patients with JIA. The demonstration of a key role of IL-1 and IL-6 in the pathogenesis of the disease, led to consider sJIA an autoinflammatory disease: this explain the successfully use of IL-1 and IL-6 inhibitors. While the efficacy and safety of anakinra in sJIA is widely documented, there are no reports on large series of patients treated with canakinumab outside of the setting of clinical trials. Objectives: The aim of this study was to evaluate clinical response rate and disease course of canakinumab in Italian cohort of patients with sJIA. Methods: This is a retrospective multicenter study. Demogr…

Clinical Inactive Disease RateSettore MED/38 - Pediatria Generale E SpecialisticaCanakinumabSystemic Juvenile Idiopathic ArthritiSafety
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Clinical features and follow-up in patients with 22q11.2 deletion syndrome

2014

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…

MalePediatrics22q11.2 deletionDelayed DiagnosisTime FactorsChromosomes Human Pair 22Developmental Disabilitiesdigeorge syndromeSex FactorSeverity of Illness IndexRetrospective StudieDiGeorge syndromeEarly DiagnosiAge FactorProspective StudiesNeonatal hypocalcemiaProspective cohort studyChildmedicine.diagnostic_testDelayed Diagnosi22q11.2 deletion; Primary immune disordersAge Factorsdel 22qMIMAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease ProgressionChild PreschoolCohortDisease ProgressionPrimary immune disordersFemaleAbnormalitiesMultipleAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease Progression; Pediatrics Perinatology and Child HealthHumanAdultmedicine.medical_specialtyTime FactorAdolescentMonitoringDevelopmental DisabilitieItalian Association of Pediatric Haematology and OncologyContext (language use)Risk AssessmentChromosomesFollow-Up StudieYoung AdultSex FactorsSeverity of illnessmedicineDiGeorge SyndromeHumansAbnormalities MultipleGenetic Testing22q11DS; 22q11.2 deletion syndrome; AIEOP; Italian Association of Pediatric Haematology and Oncology; MIM; Mendelian Inheritance in Man22q11DSPreschoolPhysiologicdigeorge syndrome; del 22qGenetic testingMonitoring PhysiologicRetrospective StudiesSettore MED/38 - Pediatria Generale e Specialisticabusiness.industryMendelian Inheritance in ManInfant NewbornInfantRetrospective cohort studymedicine.diseaseNewbornAIEOPProspective StudieEarly Diagnosis22q11.2 deletion syndromePediatrics Perinatology and Child HealthPair 22businessFollow-Up Studies
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Canakinumab in systemic juvenile idiopathic arthritis: clinical inactive disease rate and safety in italian patients

2019

Introduction: Systemic juvenile idiopathic arthritis (sJIA) is a polygenic autoinflammatory disease. The pathophysiology is still unclear, it is now well known that innate immune mechanisms play a central role with overproduction of inflammatory cytokines. The increased knowledge on the role of these cytokines has provided a change in the natural history of the disease with the introduction of the targeted treatments. Remarkable results has been observed with canakinumab, an anti-interleukin-1β monoclonal antibody, in two clinical trials but little information are available in real life. Objectives: To evaluate clinical inactive disease rate and safety of canakinumab in Italian patients wit…

Settore MED/38 - Pediatria Generale E SpecialisticaSystemic juvenile idiopathic arthritis canakinumab IL1Canakinumab Systemic Juvenile Idiopathic Arthritis Interleukin-1β
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