0000000001226994

AUTHOR

M Duse

showing 4 related works from this author

Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study

2002

A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years; mean age at diagnosis and mean duration of follow-up were 3.5 and 10 years respectively. After the mid-1980s all but 2 were on intravenous immunoglobulin (IVIG) substitution therapy, with residual IgG >500 mg/dl in 94% of the patients at the time of enrollment. Respiratory infections were the most frequent manifestation both prior to diagnosis and over follow-up. Chronic lung disease (CLD) was prese…

Lung DiseasesAdultMalePediatricsmedicine.medical_specialtyGenetic Linkage; Agammaglobulinemia; Humans; Infant Newborn; Protein-Tyrosine Kinases; Child; Child Preschool; X Chromosome; Immunoglobulins Intravenous; Lung Diseases; Adult; Cohort Studies; Chronic Disease; Follow-Up Studies; Adolescent; Mutation; Maleclinical featuresX ChromosomeX-linked agammaglobulinemiaAdolescentGenetic LinkageImmunologyX-linked agammaglobulinemiaImmunoglobulinsX-linked agammaglobulinemia; infections; intravenous immunoglobulin; BTK mutationSepsisCohort StudiesAgammaglobulinemiaImmunopathologyintravenous immunoglobulinEpidemiologymedicineAgammaglobulinaemia Tyrosine KinaseImmunology and AllergyHumansinfectionsChildPreschoolSettore MED/38 - Pediatria Generale e SpecialisticaBTK mutationsbusiness.industryChronic sinusitisInfant NewbornMeningoencephalitisImmunoglobulins IntravenousInfantProtein-Tyrosine Kinasesmedicine.diseaseNewbornBTK mutationagammaglobulinemia; clinical features; BTK mutationsChild PreschoolChronic DiseaseMutationbusinessIntravenousMeningitisCohort studyFollow-Up Studies
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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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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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