0000000001226997

AUTHOR

E Anastasio

showing 2 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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A survey on features of allergic rhinitis in children

2013

Objective: A number of epidemiologic studies evaluated the prevalence of allergic rhinitis (AR), but few data are available on its different clinical presentations. We addressed this survey to assess the features of AR in children and adolescents. Methods: Thirty-five centers in Italy included 2623 pediatric patients with rhinitis, of whom 2319 suffered from AR, while 304 had other kinds of rhinitis. For each patient a standardized questionnaire was filled in, including ARIA classification, the duration of symptoms, the allergen identified as clinically relevant, the co-morbidities, the kind of treatment, the response to treatment, the satisfaction with the treatment, and the feasibility of…

QuestionnairesMalePediatricsmedicine.disease_causeAdrenal Cortex HormoneAllergic rhinitisDrug treatmentAllergenAdrenal Cortex HormonesGrass pollenSurveys and QuestionnairesChildRhinitisAllergen immunotherapybiologyMedicine (all)PyroglyphidaeGeneral MedicineDust mitesResponse to treatmentPhenotypesPhenotypeItalyChild PreschoolFemaleAdolescent; Adrenal Cortex Hormones; Animals; Child; Child Preschool; Female; Histamine Antagonists; Humans; Italy; Male; Rhinitis Allergic Seasonal; Pyroglyphidae; QuestionnairesHistamine AntagonistHumanallergen immunotherapy; phenotypes; aria classification; allergic rhinitis; drug treatmentmedicine.medical_specialtyAllergen immunotherapyAdolescentHistamine AntagonistsAnimals; Questionnaires; Humans; Pyroglyphidae; Child; Italy; Adrenal Cortex Hormones; Child Preschool; Histamine Antagonists; Rhinitis Allergic Seasonal; Adolescent; Female; MaleAllergen immunotherapy; Allergic rhinitis; ARIA classification; Drug treatment; PhenotypesAllergicmedicineAllergic rhinitiAnimalsHumansPreschoolSettore MED/38 - Pediatria Generale e SpecialisticaSeasonalbusiness.industryAnimalQuestionnairePyroglyphidaeRhinitis Allergic Seasonalbiology.organism_classificationDermatologyClinical trialMulticenter studyARIA classificationbusiness
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