0000000000650956

AUTHOR

G Corsello

showing 4 related works from this author

LA NUTRIZIONE PARENTERALE e L'INTESTINO RESIDUO: quale relazione nel decorso dei pazienti con Sindrome da Intestino Corto? Valutazione da una Casisti…

2004

In età pediatrica la Sindrome da INtestino Corto (SIC), il più delle volte conseguenza di un intervento chirurgico di resezione intestinale massiva, è la più frequente causa di Insufficienza Intestinale (ID). L'esigenza di conoscere la realtà delle SIC ha promosso uno Studio Nazionale Multicentrico retrospettivo ("SIC 91" ) per valutare i casi di SIC osservati dal 1991 al 2001, avvalendosi inoltre dei dati del Network Italiano "Insufficienza Intestinale in Età Pediatrica". I dati preliminari sono già stati presenatti e pubblicati in altra sede ed hanno permesso di esprimere alcune considerazioni iniziali. Gli obiettivi di questo Studio sono quelli di valutare l'outcome dei pazienti in relaz…

Resezione intestinale massiva Sindrome da Intestino Corto Nutrizione parenterale
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Guideline on management of the acute asthma attack in children by Italian Society of Pediatrics

2018

Abstract Background Acute asthma attack is a frequent condition in children. It is one of the most common reasons for emergency department (ED) visit and hospitalization. Appropriate care is fundamental, considering both the high prevalence of asthma in children, and its life-threatening risks. Italian Society of Pediatrics recently issued a guideline on the management of acute asthma attack in children over age 2, in ambulatory and emergency department settings. Methods The Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was adopted. A literature search was performed using the Cochrane Library and Medline/PubMed databases, retrieving studies in Englis…

MaleAsthma; Asthma attack; Children; GuidelinesPediatricsReviewGuidelineCochrane LibraryIpratropium bromidePediatricsSeverity of Illness Index0302 clinical medicineAnti-Asthmatic AgentsChildChildrenSocieties MedicalPediatriclcsh:RJ1-570PrognosisBronchodilator AgentsEpinephrineTreatment OutcomeInhalationItalyChild PreschoolAmbulatoryAdministrationCombinationPractice Guidelines as TopicDrug Therapy CombinationFemaleHumanmedicine.drugmedicine.medical_specialtyAdolescentPrognosiAsthma attackMEDLINEGuidelinesRisk Assessment03 medical and health sciencesDrug Therapy030225 pediatricsMedicalAdministration InhalationmedicineAnti-Asthmatic AgentHumansAsthma; Asthma attack; Children; Guidelines; Administration Inhalation; Adolescent; Anti-Asthmatic Agents; Asthma; Bronchodilator Agents; Child; Child Preschool; Drug Therapy Combination; Female; Humans; Italy; Male; Pediatrics; Prognosis; Risk Assessment; Severity of Illness Index; Societies Medical; Treatment Outcome; Practice Guidelines as TopicPreschoolBronchodilator AgentAsthmabusiness.industrylcsh:PediatricsEmergency departmentGuidelinemedicine.diseaseAsthma030228 respiratory systemPediatrics Perinatology and Child HealthbusinessSocieties
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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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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

2017

Abstract The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, esp…

0301 basic medicineMaleNeonatal intensive care unitDiseaseReview030105 genetics & heredityPediatricsWhole Exome SequencingNeonateNeonatalOutcome Assessment Health CareDiagnosisPolicy MakingExome sequencingSanger sequencingGenomelcsh:RJ1-570Perinatology and Child HealthSettore MED/38Intensive Care UnitsItalyWhole-exome sequencingPractice Guidelines as TopicsymbolsWESFemaleHumanDiagnosiNICUmedicine.medical_specialtyMendelian03 medical and health sciencessymbols.namesakeOutcome Assessment (Health Care)Neonatal ScreeningNeonatal intensive care unitGeneticIntensive Care Units NeonatalExome SequencingmedicineDiagnosis; Genetic; Genome; Mendelian; Neonatal intensive care unit; Neonate; NICU; WES; WGS; Whole-exome sequencing; Pediatrics Perinatology and Child HealthHumansGenetic TestingIntensive care medicineSettore MED/06 - ONCOLOGIA MEDICAGenetic heterogeneityCritically illbusiness.industryGenome HumanInfant NewbornInfantlcsh:PediatricsNewbornInfant newborn030104 developmental biologyDiagnosis; Genetic; Genome; Mendelian; NICU; Neonatal intensive care unit; Neonate; WES; WGS; Whole-exome sequencing; Female; Genetic Testing; Genome Human; Humans; Infant; Infant Newborn; Intensive Care Units Neonatal; Italy; Male; Neonatal Screening; Outcome Assessment (Health Care); Policy Making; Whole Exome Sequencing; Practice Guidelines as TopicPediatrics Perinatology and Child HealthDifferential diagnosisbusinessWGS
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