0000000001227038

AUTHOR

D Peroni

showing 2 related works from this author

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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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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