0000000001327729

AUTHOR

R Sottile

showing 5 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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Pediatric Systemic Multi-Inflammatory Diseases in Italy During Sars-Cov-2 Epidemic: From Kawasaki Disease To Kawacovid

2020

Introduction: Italy was affected by the SARS-CoV-2 epidemic after its outbreak in China. With a 4-weeks delay after the peak in adults, we observed an abnormal number of patients with characteristics of a multi-inflammatory disease and similarities with Kawasaki Disease (KD). Others reported similar cases, defined PIMS-TS or MIS-C.1,2 Objectives: To better characterize clinical features and treatment response of PIMS-TS and to explore its relationship with KD. Methods: We conducted an observational, retrospective, multicenter study. On April 24th-2020 the Rheumatology Study Group of the Italian Pediatric Society launched a national online survey, to enroll patients diagnosed with KD or with…

Settore MED/38 - Pediatria Generale E SpecialisticaSystemic Multi-Inflammatory DiseaseKawacovidKawasaki DiseaseSars-Cov-2 Epidemic
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ISO 639, Yosemite e App che “parlano” dialetto. Qualche reazione e riflessione

2016

Quale teoria e concezione del dialetto soggiace all’idea di descrivere il siciliano come «abbastanza distinto dall’italiano tipico tanto da poter essere considerato un idioma separato» (Ethnologue, MOSELEY e ASHER 1994, 54)? Un certo ruolo deve avere la distorta pratica di valutare le varietà dell’italoromanzo come dialetti dell’italiano, pratica, questa, che, per altro, induce a proporre separazioni e distinzioni al punto da invocare, per alcune di queste varietà, lo statuto di «lingue madri». Se poi queste “lingue”, nella prospettiva ecolinguistica, presentano una serie di condizioni che ne mettono a rischio la sopravvivenza, entrano ne “Il Libro Rosso delle lingue in pericolo” (Red Book …

Settore L-FIL-LET/12 - Linguistica Italianalingue dialetti e web dialetti e Unesco Red Book of Endangered Languages politiche liguistiche minoranze App sul dialettoDialectology Sociolinguistics Language Planning and Policy Minority Languages Language Policy Language and New Media
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Centro di studi filologici e linguistici siciliani 1951-2011

2011

Aggiornamento del Volume che illustra l'attività scientifica e editoriale del Centro di studi filologici e linguistici siciliani

Settore L-FIL-LET/12 - Linguistica ItalianaRassegna di Studi di linguistica e filologia siciliana
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Guida allo studio della cultura dialettale delle Madonie

2011

Il lavoro, prodotto nell'ambito della Convenzione tra l'allora Dipartimento di Scienze filologiche e linguistiche dell'Università di Palermo e l'Ente Parco delle Madonie, per la realizzazione del progetto di ricerca su "Lingua e cultura tradizionale delle Madonie", si pone come uno strumento di lavoro per quanti, cultori locali, insegnanti, studenti, vogliono accostarsi allo studio del dialetto e dell'universo tradizionale dialettale. Composto da quattrro capitoli, il volumetto presenta alcuni saggi che forniscono indicazioni per raccogliere testimonianze del dialetto e delle tradizioni locali. La Guida propone anche una bibliografia sulla cultura dialettale delle Madonie nella quale vengon…

Settore L-FIL-LET/12 - Linguistica Italianadialettologiacultura oralecultura tradizionale cultura popolare
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