Search results for "PEDIATRIA"

showing 10 items of 692 documents

Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

2012

Objective To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Design Prospective cohort study. Setting Epilepsy centers in Italy. Patients Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Main Outcomes Measures Identification of copy number variations (CNVs) and gene enrichment. Results Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = …

MaleOncologyendocrine system diseasesMicroarrayGene DosagePreschool Cohort Studies Computational Biology Diagnostic and Statistical Manual of Mental Disorders EpilepsyBioinformaticsPolymerase Chain ReactionFluorescence Intellectual DisabilityCohort StudiesEpilepsySettore MED/38 - Pediatria Generale E SpecialisticaGene DuplicationProspective StudiesCopy-number variationAge of OnsetChildProspective cohort studyIn Situ Hybridization Fluorescenceepidemiology/genetics Nucleic Acid Hybridization Polymerase Chain Reaction Prospective Studies Young AdultGene RearrangementNucleic Acid HybridizationMiddle AgedControl subjectsMagnetic Resonance ImagingDiagnostic and Statistical Manual of Mental Disordersgenetics Female Gene Deletion Gene Dosage Gene Duplication Gene Rearrangement Genome-Wide Association Study Humans In Situ HybridizationItalyRare Copy Number Variations EpilepsyChild PreschoolFemaleepidemiology/genetics ItalyAdultmedicine.medical_specialtyAdolescentBiologyYoung AdultAdolescent Adult Age of Onset Aged Child ChildArts and Humanities (miscellaneous)Intellectual DisabilityInternal medicinemental disordersmedicineHumansIn patientClinical significanceepidemiology Magnetic Resonance Imaging Male Microarray Analysis Middle Aged Nervous System DiseaseAgedEpilepsyComputational BiologyMicroarray Analysismedicine.diseaseSettore MED/03 - Genetica MedicaNeurology (clinical)Nervous System DiseasesGene DeletionGenome-Wide Association StudyComparative genomic hybridization
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Point of view of the Italians pediatric scientific societies about the pediatric care during the COVID-19 lockdown: What has changed and future prosp…

2020

Abstract Background The coronavirus disease 2019 (COVID-19) is currently rare in children and they seem to have a milder disease course and better prognosis than adults. However, SARS-Cov-2 pandemic has indirectly caused problems in pediatric medical assistance. In view of this we wanted to draw a picture of what happened during health emergency and analyze future prospects for restarting. Methods We involved the Italian pediatric scientific societies institutionally collected in the Italian Federation of Associations and Scientific Societies of the Pediatric Area (FIARPED); We sent a questionnaire to all scientific societies about the pediatric care activity during the COVID-19 emergency a…

MaleOutcome AssessmentPediatricsPatient Care PlanningSurveys and QuestionnairesPandemicOutcome Assessment Health CareAmbulatory CareMedicineViralChildChildrenSocieties MedicalPediatricEmergency Servicelcsh:RJ1-570children; COVID-19; pediatric assistance; telemedicineSettore MED/38TelemedicineHospitalizationOutpatient visitsItalySettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAQuarantineContinuity of careFemalePediatric careCoronavirus InfectionsEmergency Service HospitalHumanAdultmedicine.medical_specialtyTelemedicineCoronavirus disease 2019 (COVID-19)Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)Pneumonia ViralDisease courseHospitalMedicalHumansPandemicsInfection ControlPediatric assistancePandemicbusiness.industryCoronavirus InfectionCOVID-19lcsh:PediatricsPneumoniaHealth CareFamily medicineChildren; COVID-19; Pediatric assistance; Telemedicine; Adult; Ambulatory Care; Child; Coronavirus Infections; Delivery of Health Care; Emergency Service Hospital; Female; Hospitalization; Humans; Infection Control; Italy; Male; Outcome Assessment Health Care; Pandemics; Patient Care Planning; Pediatrics; Pneumonia Viral; Quarantine; Societies Medical; Telemedicine; Surveys and QuestionnairesbusinessSocietiesDelivery of Health Care
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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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Multicentre Italian study of SARS-CoV-2 infection in children and adolescents, preliminary data as at 10 April 2020

2020

Data on features of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in children and adolescents are scarce. We report preliminary results of an Italian multicentre study comprising 168 laboratory-confirmed paediatric cases (median: 2.3 years, range: 1 day–17.7 years, 55.9% males), of which 67.9% were hospitalised and 19.6% had comorbidities. Fever was the most common symptom, gastrointestinal manifestations were frequent; two children required intensive care, five had seizures, 49 received experimental treatments and all recovered.

MalePediatricsEpidemiologyProtease InhibitorComorbiditymedicine.disease_causeClinical Laboratory TechniqueSevere Acute Respiratory SyndromeDisease OutbreaksFeces0302 clinical medicineSettore MED/38 - Pediatria Generale E SpecialisticaCOVID-19 TestingRetrospective StudiePandemic030212 general & internal medicineViralChildCoronavirusPediatricDisease OutbreakCoinfectionHospitals PediatricSettore MED/38HospitalsDiarrheaTreatment OutcomeSARS-CoV-2 infection; children; covid-19; hydroxychloroquine; pneumonia; Adolescent; Antiviral Agents; Betacoronavirus; COVID-19; COVID-19 Testing; Child; Child Preschool; Chronic Disease; Clinical Laboratory Techniques; Coinfection; Comorbidity; Coronavirus; Coronavirus Infections; Diarrhea; Disease Outbreaks; Feces; Female; Fever; Hospitals Pediatric; Humans; Immunocompromised Host; Infant; Infant Newborn; Italy; Male; Noninvasive Ventilation; Pandemics; Pneumonia Viral; Protease Inhibitors; Retrospective Studies; SARS-CoV-2; Severe Acute Respiratory Syndrome; Treatment OutcomeItalyChild PreschoolCoinfectionFemalemedicine.symptomCoronavirus InfectionsRapid CommunicationHumanDiarrheamedicine.medical_specialtyCOVID-19; ItalyhydroxychloroquineAdolescentFeverCoronaviruPneumonia ViralAntiviral Agents03 medical and health sciencesBetacoronavirusImmunocompromised Hostchildren030225 pediatricsVirologyIntensive caremedicineHumanspneumoniaProtease InhibitorsPreschoolPandemicsRetrospective StudiesAntiviral Agentchildren; covid-19; hydroxychloroquine; pneumonia; SARS-CoV-2 infection; Adolescent; Antiviral Agents; Betacoronavirus; Child; Child Preschool; Chronic Disease; Clinical Laboratory Techniques; Coinfection; Comorbidity; Coronavirus; Coronavirus Infections; Diarrhea; Disease Outbreaks; Feces; Female; Fever; Hospitals Pediatric; Humans; Immunocompromised Host; Infant; Infant Newborn; Italy; Male; Noninvasive Ventilation; Pandemics; Pneumonia Viral; Protease Inhibitors; Retrospective Studies; Severe Acute Respiratory Syndrome; Treatment OutcomeNoninvasive VentilationBetacoronaviruPandemicbusiness.industryClinical Laboratory TechniquesCoronavirus InfectionSARS-CoV-2pneumonia.SARS-CoV-2 infectionPublic Health Environmental and Occupational HealthInfant NewbornCOVID-19InfantRetrospective cohort studymedicine.diseaseNewbornComorbidityCoronavirusPneumoniaChronic DiseaseFecebusiness
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Personal and Environmental Risk Factors at Birth and Hospital Admission: Direct and Vitamin D-Mediated Effects on Bronchiolitis Hospitalization in It…

2021

Seasonal variations in UV-B radiation may influence vitamin D status, and this, in turn, may influence the risk of bronchiolitis hospitalization. The aim of this study was using a causal inference approach to investigate, simultaneously, the interrelationships between personal and environmental risk factors at birth/hospital admission (RFBH), serum vitamin D levels and bronchiolitis hospitalization. A total of 63 children (&lt

MalePediatricsHealth Toxicology and Mutagenesislcsh:Medicinevitamin Dchemistry.chemical_compoundSettore MED/38 - Pediatria Generale E Specialistica0302 clinical medicinePregnancyRisk Factors030212 general & internal medicineChildseasonalityGestational ageVitaminsHospitalsHospitalizationItalyChild PreschoolHospital admissionBronchiolitisPremature BirthFemaleSeasonsVitaminmedicine.medical_specialtyUltraviolet RaysBirth weightGestational AgeEnvironmentLower riskArticle03 medical and health sciencesEnvironmental risk030225 pediatricsmedicineVitamin D and neurologyHumansmediation analysisbusiness.industrylcsh:RPublic Health Environmental and Occupational HealthInfant NewbornInfantmediation analysimedicine.diseasebronchiolitis hospitalizationchemistryBronchiolitisbusinessInternational Journal of Environmental Research and Public Health
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Association of maternal hypertension and chorioamnionitis with preterm outcomes

2014

OBJECTIVES: We compared the relative effect of hypertensive disorders of pregnancy and chorioamnionitis on adverse neonatal outcomes in very preterm neonates, and studied whether gestational age (GA) modulates these effects. METHODS: A cohort of neonates 23 to 30 weeks' GA, born in 2008 to 2011 in 82 hospitals adhering to the Italian Neonatal Network, was analyzed. Infants born from mothers who had hypertensive disorders (N = 2096) were compared with those born after chorioamnionitis (N = 1510). Statistical analysis employed logistic models, adjusting for GA, hospital, and potential confounders. RESULTS: Overall mortality was higher after hypertension than after chorioamnionitis (odds rati…

MalePediatricsLogistic models; Mortality; Outcomes; Pregnancy complications; Preterm infants; Risks; Female; Gestational Age; Humans; Infant Newborn; Infant Premature Diseases; Male; Pregnancy; Pregnancy Outcome; Prospective Studies; Chorioamnionitis; Hypertension Pregnancy-Induced; Pediatrics Perinatology and Child Health; Medicine (all); Arts and Humanities (miscellaneous)DiseasesInfant Premature DiseasesChorioamnionitisoutcomesPediatricsPregnancyRisksMaternal hypertensionProspective StudiesriskObstetricspregnancy complicationsMedicine (all)Pregnancy OutcomeGestational ageRetinopathy of prematurityPerinatology and Child HealthChorioamnionitisSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICALogistic models Mortality Outcomes Pregnancy complications Preterm infants RisksNecrotizing enterocolitisHypertensionoutcomeFemaleHumanmedicine.medical_specialtyGestational AgeOutcomesPregnancy-Inducedpreterm infantPregnancy complicationArts and Humanities (miscellaneous)medicineLogistic models; Mortality; Outcomes; Pregnancy complications; Preterm infants; Risks; Female; Gestational Age; Humans; Infant Newborn; Infant Premature Diseases; Male; Pregnancy; Pregnancy Outcome; Prospective Studies; Chorioamnionitis; Hypertension Pregnancy-Induced; Pediatrics Perinatology and Child HealthHumanspreterm infantsMortalityPrematurelogistic modelPregnancyChorioamnionitibusiness.industryInfant NewbornPreterm infantsInfantInfant Premature DiseaseOdds ratioHypertension Pregnancy-Inducedmedicine.diseaseNewbornmortalityLogistic modelsProspective StudiePregnancy complicationsBronchopulmonary dysplasiaPediatrics Perinatology and Child Healthbusinesslogistic modelsrisks
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Kawasaki disease: guidelines of the Italian Society of Pediatrics, part I - definition, epidemiology, etiopathogenesis, clinical expression and manag…

2018

Abstract The primary purpose of these practical guidelines related to Kawasaki disease (KD) is to contribute to prompt diagnosis and appropriate treatment on the basis of different specialists’ contributions in the field. A set of 40 recommendations is provided, divided in two parts: the first describes the definition of KD, its epidemiology, etiopathogenetic hints, presentation, clinical course and general management, including treatment of the acute phase, through specific 23 recommendations. Their application is aimed at improving the rate of treatment with intravenous immunoglobulin and the overall potential development of coronary artery abnormalities in KD. Guidelines, however, should…

MalePediatricsReviewPediatricsSeverity of Illness Index0302 clinical medicineRetrospective StudieEpidemiology030212 general & internal medicineDisease management (health)Coronary artery abnormalitieChildrenSocieties MedicalRandomized Controlled Trials as TopicPediatriclcsh:RJ1-570Disease ManagementImmunoglobulins IntravenousGeneral MedicinePrognosisSettore MED/38Treatment OutcomeSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAItalyMeta-analysisAcute DiseasePractice Guidelines as TopicDisease ProgressionFemaleCoronary artery abnormalitiesAspirin; Children; Coronary artery abnormalities; Intravenous immunoglobulin; Kawasaki disease;Humanmedicine.medical_specialtyPrognosiMucocutaneous Lymph Node SyndromeRisk Assessment03 medical and health sciences030225 pediatricsSeverity of illnessmedicineHumansRisk factorIntravenous immunoglobulinRetrospective Studiesaspirin; children; coronary artery abnormalities; intravenous immunoglobulin; Kawasaki disease; pediatrics perinatology and child healthAspirinKawasaki diseasebusiness.industrylcsh:PediatricsRetrospective cohort studymedicine.diseaseImmunoglobulins IntravenouPediatrics Perinatology and Child Healthperinatology and child healthKawasaki diseaseDifferential diagnosisbusiness
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Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

2010

MalePediatricsmedicine.medical_specialtyAdolescentDNA Mutational AnalysisSettore MED/38 - Pediatria Generale E SpecialisticaGene DuplicationIntellectual DisabilityGene duplicationGeneticsmedicinePervasive developmental disorderHumansArray comparative genomic hybridization autistic disorder 1p duplication mental retardationChildGenetics (clinical)In Situ Hybridization FluorescenceGeneticsChromosome AberrationsComparative Genomic HybridizationModels Geneticbusiness.industryChromosomemedicine.diseaseDevelopmental disorderMental deficiencyPhenotypeAutism spectrum disorderChild Development Disorders PervasiveChromosomes Human Pair 1MutationAutismbusinessComparative genomic hybridization
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The "Invisible Children": Uncertain Future of Unaccompanied Minor Migrants in Europe.

2016

Because of their particular helpless condition, the unaccompanied minor migrants are at serious risk to be further deprived of their rights, and to become de facto “invisible” to the authorities, to the public health services, and in general to the public opinion. Furthermore, when they arrive at a destination, or during their journey through Europe, many children often vanish. The full dimension of such phenomenon that further hits the unaccompanied minors along their European migration routes currently is unknown. However, the intense migration that has affected the south Mediterranean borders of the EU over the last 10 years has allowed the collection of sufficient data to raise the high…

MalePediatricsmedicine.medical_specialtyAdolescentMinor (academic)Child Abandoned03 medical and health sciencesHomeless Youth0302 clinical medicinechildren030225 pediatricsMedicinemedia_common.cataloged_instanceHumans030212 general & internal medicineEuropean unionChildmedia_commonTransients and Migrantsbusiness.industryEmigration and ImmigrationEuropeMinorsmigrantSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAPediatrics Perinatology and Child HealthEthnologyFemalebusinessunaccompained minorThe Journal of pediatrics
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Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study

2013

Background: Intrauterine growth restriction (IUGR) and small for gestational age (SGA) birth have been considered possible indicators of the presence of malformations. The aim of this study is to evaluate such relationships in a population of newborns, along with other epidemiological and auxological parameters, in particular the ponderal index (PI). Methods: We analyzed the birth data of 1093 infants, classified according to weight for gestational age as SGA, appropriate for gestational age (AGA) or large for gestational age (LGA). The prevalence of malformations was analyzed in relation to weight percentile at birth and SGA birth, maternal smoking, pregnancy diseases and PI. Results: Our …

MalePediatricsmedicine.medical_specialtyBirth weightPopulationIntrauterine growth restrictionGestational AgeSensitivity and SpecificityBody Mass IndexCongenital AbnormalitiesSettore MED/38 - Pediatria Generale E SpecialisticaWeight percentileNeonatal ScreeningPredictive Value of TestsPregnancyRisk FactorsPrevalenceMedicineBirth WeightHumanseducationSicilyreproductive and urinary physiologyRetrospective StudiesCongenital malformationsSGAPregnancyeducation.field_of_studyFetal Growth Retardationbusiness.industryObstetricsResearchInfant NewbornGestational agemedicine.diseaseBody Heightfemale genital diseases and pregnancy complicationsPonderal indexPredictive value of testsInfant Small for Gestational AgeSmall for gestational ageCongenital malformationFemalebusinessBody mass indexItalian Journal of Pediatrics
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