0000000000650997

AUTHOR

G Presta

showing 3 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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Work environment, volume of activity and staffing in neonatal intensive care units in Italy: results of the SONAR-nurse study

2016

Background Neonatal units’ volume of activity, and other quantitative and qualitative variables, such as staffing, workload, work environment, care organization and geographical location, may influence the outcome of high risk newborns. Data about the distribution of these variables and their relationships among Italian neonatal units are lacking. Methods Between March 2010-April 2011, 63 neonatal intensive care units adhering to the Italian Neonatal Network participated in the SONAR Nurse study. Their main features and work environment were investigated by questionnaires compiled by the chief and by physicians and nurses of each unit. Twelve cross-sectional monthly-repeated surveys on diff…

Cross-sectional studyStaffingWorkloadCritical Care NursingPediatrics03 medical and health sciences0302 clinical medicineSettore MED/38 - Pediatria Generale E SpecialisticaNursing030225 pediatricsIntensive careCritical care nursingSurveys and QuestionnairesNeonatalIntensive Care Units NeonatalMedicineHumansSurveys and Questionnaire030212 general & internal medicineLocationWorkplaceCross-Sectional Studiebusiness.industryResearchNurse-Patient RelationInfant NewbornPatient AcuityInfantWorkloadPatient AcuityPerinatology and Child HealthNewbornInfant Newborn; Intensive Care Units Neonatal; Nurse-Patient Relations; Patient Acuity; Workload; Cross-Sectional Studies; Humans; Infant Newborn; Intensive Care Units Neonatal; Italy; Surveys and Questionnaires; Critical Care Nursing; Pediatric Nursing; Workload; WorkplacePediatric NursingInfant Newborn; Intensive Care Units Neonatal; Nurse-Patient Relations; Patient Acuity; WorkloadIntensive Care UnitsCross-Sectional StudiesItalyWorkforceInfant; Intensive care units; Neonatal; Newborn; Nurse-patient relations; Patient acuity; Workload; Cross-Sectional Studies; Humans; Infant Newborn; Intensive Care Units Neonatal; Italy; Surveys and Questionnaires; Critical Care Nursing; Pediatric Nursing; Workload; Workplace; Pediatrics Perinatology and Child HealthPediatric nursingbusinessNurse-Patient RelationsHuman
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A controlled trial of intra-articular corticosteroids with or without methotrexate in oligoarticular juvenile idiopathic arthritis

2014

In contrast with the numerous controlled trials conducted in polyarticular or systemic juvenile idiopathic arthritis (JIA), little evidence-based information is available for oligoarticular JIA. As a result, the management of children with this subtype, which is the most prevalent in Western countries, is largely empiric. Intra-articular corticosteroid (IAC) injection is the therapy of first choice for oligoarthritis in many pediatric rheumatology centers. However, although IAC injections are usually highly efficacious, relapses of synovitis are common and sometimes occur only a few months after the procedure. It is still unclear whether concomitant administration of methotrexate (MTX) may …

musculoskeletal diseasesPediatricsmedicine.medical_specialtyArthritislaw.inventionSettore MED/38 - Pediatria Generale E SpecialisticaRheumatologyRandomized controlled triallawInternal medicineSynovitismedicineImmunology and AllergyPediatrics Perinatology and Child Healthskin and connective tissue diseasesmethotrexate oligoarticular juvenile idiopathic arthritisOligoarthritisbusiness.industrymedicine.diseaseRheumatologyConcomitantPoster PresentationPediatrics Perinatology and Child HealthMethotrexateOligoarticular Juvenile Idiopathic Arthritisbusinessmedicine.drugPediatric Rheumatology
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