0000000001024769

AUTHOR

R Gallizzi

showing 3 related works from this author

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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Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease

2012

Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant ambiguity regarding some of the symptoms which are also present in FD. The objective of this study was to determine the spectrum of mutations present in these genes, in order to identify cases of mistaken diagnosis of FMF and/or missed diagnosis of FD. Ten out of 42 patients had one mutation in homozygo…

GeneticsMutationmedicine.medical_specialtybusiness.industryFamilial Mediterranean fevermedicine.diseasemedicine.disease_causeMEFVPyrin domainFabry diseaseInternal medicineGenotypeGeneticsmedicineYoung adultDifferential diagnosisbusinessGenetics (clinical)Clinical Genetics
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Safety profile of the interleukin-1 inhibitors anakinra and canakinumab in real life clinical practice: a nationwide multicenter retrospective observ…

2018

A few studies have reported the safety profile of interleukin (IL)-1 blockers from real life. The aim of this study is to describe anakinra (ANA) and canakinumab (CAN) safety profile in children and adults, based on data from a real-life setting. Demographic, clinical, and therapeutic data from patients treated with ANA and CAN were retrospectively collected and analyzed. Four hundred and seventy five patients were enrolled; ANA and CAN were prescribed in 421 and 105 treatment courses, respectively. During a mean follow-up of 24.39 ± 27.04 months, 89 adverse events (AE) were recorded; 13 (14.61%) were classified as serious AE (sAE). The overall estimated rate of AE and sAE was 8.4 per 100 p…

Anakinra; Autoinflammatory disorders; Canakinumab; Interleukin-1; Safety profile0301 basic medicineMaleSettore MED/16 - REUMATOLOGIAAutoinflammatory disorders0302 clinical medicineRetrospective StudieAnakinra; Autoinflammatory disorders; Canakinumab; Interleukin-1; Safety profile; RheumatologyChildAntibodies MonoclonalGeneral MedicineMiddle AgedAnakinraTreatment OutcomeAutoinflammationFemaleCohort studymedicine.drugHumanAdultmedicine.medical_specialtyAdolescentLogistic ModelCanakinumabNeutropeniaAntibodies Monoclonal HumanizedAutoimmune DiseaseAutoimmune Diseases03 medical and health sciencesYoung AdultRheumatologyInternal medicineInjection site reactionmedicineHumansAnakinra Autoinflammatory disorders Canakinumab Interleukin-1 Safety profile Adolescent Adult Antibodies Monoclonal Antibodies Monoclonal Humanized Autoimmune Diseases Child Female Humans Interleukin 1 Receptor Antagonist Protein Logistic Models Male Middle Aged Retrospective Studies Treatment Outcome Young AdultAdverse effectRetrospective Studies030203 arthritis & rheumatologyAnakinrabusiness.industryRetrospective cohort studymedicine.diseaseCanakinumabInterleukin 1 Receptor Antagonist ProteinLogistic Models030104 developmental biologyAutoinflammatory disorderSafety profileObservational studybusinessInterleukin-1
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