0000000000290347

AUTHOR

C Salpietro

showing 4 related works from this author

Accelerare la discussione sul PRG portuale

2010

porto città piano regolatoreSettore ICAR/21 - Urbanistica
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Il Belice non ha bisogno di nuove case

2011

Belice ricostruzione caseSettore ICAR/21 - Urbanistica
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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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Molecular analysis of sequence variants in the Fcepsilon receptor I beta gene and IL-4 gene promoter in Italian atopic families

2004

The genetic variants in the Fcepsilon receptor I beta gene (Glu237Gly) and the T allele of the (C590T) polymorphism of interleukin (IL)-4 gene promoter were reported to be associated with atopy. But the data of the studies in different populations are contrasting with one another.

AdultHypersensitivity ImmediateMalePolymorphism GeneticGenotypeAdolescentReceptors IgEGenetic Variation; Gene Frequency; Polymorphism Genetic; Humans; Child; Receptors IgE; Genotype; Promoter Regions Genetic; Immunoglobulin E; Adult; Interleukin-4; Hypersensitivity Immediate; Middle Aged; Adolescent; Male; Amino Acid Substitution; FemaleGenetic VariationImmunoglobulin EMiddle AgedGene FrequencyAmino Acid SubstitutionFemaleInterleukin-4ChildPromoter Regions GeneticHuman
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