0000000000650946

AUTHOR

V Albano

showing 2 related works from this author

Development and implementation of the AIDA International Registry for patients with Behçet's disease

2022

AbstractPurpose of the present paper is to point out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to pediatric and adult patients with Behçet’s disease (BD). The Registry is a clinical physician-driven non-population- and electronic-based instrument implemented for the retrospective and prospective collection of real-life data about demographics, clinical, therapeutic, laboratory, instrumental and socioeconomic information from BD patients; the Registry is based on the Research Electronic Data Capture (REDCap) tool, which is thought to collect standardised information for clinical real-life research, and has been rea…

AdultRegistrieAutoinflammatory diseaseRegistrySettore MED/16 - REUMATOLOGIAprecision medicinebehçet’s diseaseSettore MED/38 - Pediatria Generale E SpecialisticaRetrospective StudieInternal MedicineHumansProspective StudiesRegistriesChildinternational registryRetrospective StudiesBehçet's diseaseautoinflammatory diseases; behçet’s disease; international registry; precision medicine; rare diseases; uveitisBehcet Syndromerare diseasesautoinflammatory diseasesProspective StudieUveitiEmergency MedicineuveitisRare diseaseHuman
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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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