Search results for " age of onset"

showing 9 items of 19 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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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9…

2012

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for 40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotrophic lateral sclerosis. We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic l…

MaleParentsPathologyphenotype-genotype correlationCohort Studies0302 clinical medicineC9orf72amyotrophic lateral sclerosigeneticsAmyotrophic lateral sclerosisAge of Onsetamyotrophic lateral sclerosis; familial als; C9Orf72; phenotype-genotype correlation0303 health sciencesSex CharacteristicsDNA Repeat ExpansionAdult Age of Onset Aged Amyotrophic Lateral Sclerosis; genetics/pathology Cohort Studies DNA Repeat Expansion DNA; genetics Female Humans Italy Male Middle Aged Mutation; genetics Parents Pedigree Phenotype Proteins; genetics Sex Characteristics Survival AnalysisMiddle Aged3. Good healthPedigreeSettore MED/26 - NEUROLOGIAPhenotypeItalyC9Orf72Settore MED/26 - NeurologiaFemaleFrontotemporal dementiaAdultmedicine.medical_specialtySOD1BiologyTARDBP03 medical and health sciencesInternal medicinemedicineHumans030304 developmental biologyAgedamyotrophic lateral sclerosis familial ALS C9ORF72 gene phenotype–genotype correlationC9orf72 ProteinAmyotrophic Lateral Sclerosisgenetics/pathologyProteinsOriginal ArticlesDNAmedicine.diseaseSurvival AnalysisC9orf72 ProteinSettore BIO/18 - Geneticaamyotrophic lateral sclerosis; familial ALS C9ORF72 gene; phenotype-genotype correlation;MutationNeurology (clinical)Age of onsetTrinucleotide repeat expansionfamilial al030217 neurology & neurosurgery
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Paracetamol and antibiotics in childhood and subsequent development of wheezing/asthma: association or causation?

2011

Background Several studies found an association between early administration of paracetamol and antibiotics and development of wheezing. This could be due to confounding: wheeze and asthmatic symptoms in early childhood are difficult to distinguish from respiratory tract infections that are widely treated with these drugs; in case of persistence of symptoms up to school age, this could explain the observed relationship. Methods We investigated the association between paracetamol and antibiotics use in the first year of life and wheezing phenotypes, i.e. wheezing starting in different time periods (early, persistent and late-onset) in the SIDRIA-2 study, a cross-sectional survey of 16,933 ch…

MalePediatricsmedicine.medical_specialtyLogistic ModelAdolescentEpidemiologyCross-sectional studyRisk AssessmentFollow-Up StudieAge Distributionbias; causality; children; confounding factors; phenotypes; wheezingSurveys and QuestionnairesWheezeAnti-Bacterial AgentOdds RatiomedicineHumansAge of OnsetSex DistributionChildAcetaminophenRespiratory SoundsAsthmaCross-Sectional StudieRespiratory tract infectionsQuestionnairebusiness.industryIncidenceIncidence (epidemiology)Infant NewbornInfantGeneral MedicineOdds ratiomedicine.diseaseAsthmaConfidence intervalAnti-Bacterial AgentsCross-Sectional StudiesLogistic ModelsRespiratory Sounds; Odds Ratio; Questionnaires; Age of Onset; Humans; Infant Newborn; Asthma; Child; Italy; Risk Assessment; Age Distribution; Infant; Anti-Bacterial Agents; Cross-Sectional Studies; Logistic Models; Incidence; Follow-Up Studies; Adolescent; Sex Distribution; Male; Acetaminophen; FemaleItalyFemaleRespiratory Soundmedicine.symptomAge of onsetbusinessHumanFollow-Up StudiesInternational Journal of Epidemiology
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Pollen-induced allergic rhinitis in 1360 Italian children: comorbidities and determinants of severity

2013

BACKGROUND: Pollen-induced allergic rhinoconjunctivitis (AR) is highly prevalent and rapidly evolving during childhood. General practitioners may not be fully aware of the nature and severity of symptoms experienced by patients and might underestimate the prevalence of moderate or severe disease. Thus, the relevance of early diagnosis and intervention may be overlooked. OBJECTIVES: To investigate the severity of pollen-induced AR and its determinants in Italian children referred to allergy specialists and who had never received specific immunotherapy (SIT). METHODS: Children (age 4-18 yr) affected by pollen-induced AR who had never undergone SIT were recruited between May 2009 and June 2011…

MaleQuestionnairesAllergyPediatricsmultiple pollen sydromemultiple pollen syndromeBreastfeedingComorbidityAirborne allergenSurveys and QuestionnairesEpidemiologyPrevalenceImmunology and AllergyOutpatient clinicAge of OnsetChildConjunctivitis AllergicRhinitispan-allergens; multiple pollen syndrome; profilin; asthma; children; allergic rhinitis; epidemiology; italy; allergic conjunctivitisEnvironmental exposuremultiple pollen syndrome; Humans; profilin; Disease Progression; children; Child; Italy; Comorbidity; pan-allergens; Allergens; asthma; Male; Antigens Plant; Questionnaires; Age of Onset; Conjunctivitis Allergic; Skin Tests; epidemiology; Pollen; Child Preschool; Rhinitis Allergic Seasonal; allergic rhinitis; Early Diagnosis; allergic conjunctivitis; Female; PrevalenceAllergic conjunctivitisItalypan-allergensChild PreschoolpanallergenDisease ProgressionPollenepidemiologyFemaleallergic rhinitimedicine.medical_specialtyItaly; allergic conjunctivitis; allergic rhinitis; asthma; children; epidemiology; multiple pollen syndrome; pan-allergens; profilinImmunologyAllergicchildrenmedicineHumansprofilinallergic conjunctivitiAntigensPreschoolAsthmaSkin TestsSettore MED/38 - Pediatria Generale e SpecialisticaSeasonalallergic rhinitisbusiness.industryallergic rhinitis; allergic conjunctivitis; asthma; children; epidemiology; Italy; multiple pollen syndrome; pan-allergens; profilinRhinitis Allergic SeasonalPlantAntigens PlantAllergensasthmamedicine.diseaseConjunctivitispan-allergenallergic conjunctivitisEarly DiagnosisPediatrics Perinatology and Child Healthbusiness
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Risk of Persistent Disability in Patients With Pediatric-Onset Multiple Sclerosis

2021

Importance Availability of new disease-modifying therapies (DMTs) and changes of therapeutic paradigms have led to a general improvement of multiple sclerosis (MS) prognosis in adults. It is still unclear whether this improvement also involves patients with pediatric-onset MS (POMS), whose early management is more challenging. Objective To evaluate changes in the prognosis of POMS over time in association with changes in therapeutic and managing standards. Design, Setting, and Participants Retrospective, multicenter, observational study. Data were extracted and collected in May 2019 from the Italian MS Registry, a digital database including more than 59 000 patients. Inclusion criteria were…

MaleRegistriePediatricsAdolescent; Adult; Age of Onset; Aged; Child; Child Preschool; Female; Humans; Italy; Male; Middle Aged; Multiple Sclerosis; Registries; Retrospective Studies; Risk Factors; Young Adult; Disabled Persons; Disease ProgressionRisk of Disability0302 clinical medicineRisk FactorsRetrospective StudieMultiple Sclerosi030212 general & internal medicineRegistriesAge of OnsetChildOriginal InvestigationHazard ratioConfoundingMiddle Agedpediatric-onset MS (POMS)Italytherapeutic and managing standardsChild PreschoolDisease ProgressionSettore MED/26 - NeurologiaFemaleDisabled PersonHumanAdultmedicine.medical_specialtyMultiple SclerosisAdolescentMEDLINEProfile of mood states03 medical and health sciencesYoung AdultmedicineHumansIn patientDisabled PersonsPreschoolpediatric-onset MS (POMS) therapeutic and managing standardsRetrospective StudiesAgedExpanded Disability Status Scalebusiness.industryPediatric-Onset Multiple SclerosisMultiple sclerosisRisk Factormedicine.diseaseObservational studyNeurology (clinical)business030217 neurology & neurosurgery
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Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

2018

Abstract Background and aims Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels of blood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients is crucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with the diagnosis in the setting of general medicine is essential to improve FH patient identification. Methods This study evaluated the performance of the Dutch Lipid Clinic Network (DLCN) score in FH patients enrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patients with genetic dyslipidaemias, including FH.…

MaleSettore MED/09 - Medicina InternaGenetic testingPredictive Value of TestFamilial hypercholesterolemia030204 cardiovascular system & hematologyDecision Support Technique0302 clinical medicineRetrospective StudieRisk FactorsCardiovascular DiseaseGenetic MarkerProspective Studies030212 general & internal medicineAge of OnsetProspective cohort studyeducation.field_of_studymedicine.diagnostic_testMiddle AgedDutch Lipid Clinic Network score; Familial hypercholesterolemia; Genetic testing; Adult; Age of Onset; Biomarkers; Cardiovascular Diseases; Cholesterol LDL; Female; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Humans; Hyperlipoproteinemia Type II; Italy; Male; Middle Aged; Phenotype; Predictive Value of Tests; Prospective Studies; Reproducibility of Results; Retrospective Studies; Risk Assessment; Risk Factors; Decision Support Techniques; Mutation3. Good healthCholesterolPhenotypeItalyCardiovascular DiseasesFemaleCardiology and Cardiovascular MedicineHumanAdultGenetic Markersmedicine.medical_specialtyDutch Lipid Clinic Network scorePopulationFamilial hypercholesterolemiaReproducibility of ResultPhysical examinationDutch Lipid Clinic Network score; Familial hypercholesterolemia; Genetic testing; Cardiology and Cardiovascular MedicineRisk AssessmentLDLDecision Support TechniquesHyperlipoproteinemia Type II03 medical and health sciencesPredictive Value of TestsInternal medicinemedicineHumansGenetic Predisposition to DiseaseFirst-degree relativeseducationRetrospective StudiesGenetic testingDutch Lipid Clinic Network score; Familial hypercholesterolemia; Genetic testingbusiness.industryRisk FactorReproducibility of ResultsSettore MED/13 - ENDOCRINOLOGIABiomarkerCholesterol LDLmedicine.diseaseMissing dataDutch Lipid Clinic Network score Familial hypercholesterolemia Genetic testingProspective StudieMutationAge of onsetbusinessBiomarkers
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Mould/dampness exposure at home is associated with respiratory disorders in Italian children and adolescents: the SIDRIA-2 Study

2005

Aims: To report on the relation between home mould and/or dampness exposure and respiratory disorders in a large sample of children and adolescents in Italy, accounting for age at time of exposure. Methods: 20 016 children (mean age 7 years) and 13 266 adolescents (mean age 13 years) completed questionnaires on indoor exposures and respiratory symptoms/diseases. Statistical analyses were adjusted for sex, age, questionnaire's compiler, area of residence, season of interview, parental educational status, family history of asthma, rhinitis, eczema, chronic obstructive pulmonary disease, presence of gas water heaters, passive smoking, pets, and active smoking (only for adolescents). Population…

Malemedicine.medical_specialtyPediatricsPassive smokingAdolescentmedicine.disease_causeRegression Analysiimmune system diseasesRisk FactorsWheezeEpidemiologyPrevalenceHumansMedicineAge of OnsetChildAsthmabusiness.industryRisk FactorPhlegmFungiPublic Health Environmental and Occupational HealthHumidityEnvironmental ExposureEnvironmental exposureRespiration DisorderRespiration Disordersmedicine.diseaseEducational Staturespiratory tract diseasesItalyAttributable riskHousingEducational StatusRegression AnalysisOriginal ArticleFemalemedicine.symptomAge of onsetRegression Analysis; Educational Status; Age of Onset; Housing; Fungi; Humans; Respiration Disorders; Humidity; Child; Italy; Risk Factors; Environmental Exposure; Adolescent; Female; Male; PrevalencebusinessHumanOccupational and Environmental Medicine
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Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis.

2006

Variation in major histocompatibility complex genes on chromosome 6p21.3, specifically the human leukocyte antigen HLA-DR2 or DRB1*1501-DQB1*0602 extended haplotype, confers risk for multiple sclerosis (MS). Previous studies of DRB1 variation and both MS susceptibility and phenotypic expression have lacked statistical power to detect modest genotypic influences, and have demonstrated conflicting results. Results derived from analyses of 1339 MS families indicate DRB1 variation influences MS susceptibility in a complex manner. DRB1*15 was strongly associated in families (P=7.8x10(-31)), and a dominant DRB1*15 dose effect was confirmed (OR=7.5, 95% CI=4.4-13.0, P<0.0001). A modest dose effect…

Models MolecularMaleSequence Homologyimmune system diseasesModelsRisk FactorsDatabases GeneticAdult Alleles Amino Acid Sequence Databases; Genetic Female Genetic Variation Genotype HLA-DR Antigens; chemistry/genetics HLA-DRB1 Chains Humans Male Middle Aged Models; Molecular Molecular Sequence Data Multiple Sclerosis; Chronic Progressive; genetics/immunology Multiple Sclerosis; genetics/immunology Phenotype Risk Factors Sequence Homology; Amino Acidskin and connective tissue diseasesHLA-DRB1Genetics (clinical)GeneticsGeneral MedicineMultiple Sclerosis Chronic ProgressiveMiddle AgedAmino AcidChronic ProgressivePhenotypeFemalemusculoskeletal diseasesAdultMultiple SclerosisGenotypeMolecular Sequence DataLocus (genetics)Human leukocyte antigenBiologyDatabases. Alleles phenotype heterogeneity human leukocyte antigens age of onset chromosomes genes genotype haplotypesmultiple sclerosis relapsing-remitting genetics disability primary progressive multiple sclerosis hla-drb1 gene illness length severity of illnessGeneticGenetic variationGeneticsmedicineHumansAmino Acid SequenceAlleleMolecular BiologyAllelesSequence Homology Amino AcidMultiple sclerosisHaplotypeGenetic VariationMolecularHLA-DR Antigensmedicine.diseasegenetics/immunologychemistry/geneticsImmunologyAge of onsetHLA-DRB1 Chains
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Prognostic indicators in pediatric clinically isolated syndrome

2017

To assess prognostic factors for a second clinical attack and a first disability worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of Multiple Sclerosis (MS) patients. Objective: To assess prognostic factors for a second clinical attack and a first disability-worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of multiple sclerosis (MS) patients. Methods: A cohort of 770 pCIS patients was followed up for at least 10 years. Cox proportional hazard models and Recursive Partitioning and Amalgamation (RECPAM) tree-regression were used to analyze data. Results: In pCIS, female sex and a multifocal onset were risk factors for a second clinical att…

RegistrieMaleMultiple SclerosisAdolescentAdolescent; Age of Onset; Child; Demyelinating Diseases; Female; Follow-Up Studies; Humans; Male; Multiple Sclerosis; Prognosis; Retrospective Studies; Risk Factors; Disease Progression; Registries; Neurology; Neurology (clinical)PrognosiONSET MULTIPLE-SCLEROSISCHILDHOODCHILDRENPARACLINICAL FEATURESDISABILITY PROGRESSIONNOFollow-Up StudieRisk FactorsRetrospective Studieprognostic indicatorsMultiple Sclerosipediatric multiple sclerosis prognosis indicatorsHumansRegistriesAge of OnsetChildOPTIC NEURITISRetrospective StudiesRisk FactorDemyelinating DiseaseNATURAL-HISTORYPrognosismultiple sclerosis clinically isolated syndrome prognostic indicatorsNeurologyTRANSVERSE MYELITISclinically isolated syndromeINTERFERON BETA-1BDisease ProgressionSettore MED/26 - NeurologiaFemaleNeurology (clinical)FOLLOW-UPDemyelinating DiseasesFollow-Up StudiesHuman
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