0000000001050104

AUTHOR

L Massacesi

showing 3 related works from this author

Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans.

2006

By combining all the data available from the Genetic Analysis of Multiple sclerosis in EuropeanS (GAMES) project, we have been able to identify 17 microsatellite markers showing consistent evidence for apparent association. As might be expected five of these markers map within the Major Histocompatibility Complex (MHC) and are in LD with HLA-DRB1. Individual genotyping of the 12 non-MHC markers confirmed association for three of them — D11S1986, D19S552 and D20S894. Association mapping across the candidate genes implicated by these markers in 937 UK trio families revealed modestly associated haplotypes in JAG1 (p=0.019) on chromosome 20p12.2 and POU2AF1 (p=0.003) on chromosome 11q23.1.

Multiple sclerosisGenome screenLinkage disequilibriumMeta-analysiSettore MED/26 - NeurologiaJAG1POU2AF1
researchProduct

Do patients' and referral centers' characteristics influence multiple sclerosis phenotypes? Results from the Italian multiple sclerosis and related d…

2022

Abstract Background Multiple sclerosis (MS) is characterized by phenotypical heterogeneity, partly resulting from demographic and environmental risk factors. Socio-economic factors and the characteristics of local MS facilities might also play a part. Methods This study included patients with a confirmed MS diagnosis enrolled in the Italian MS and Related Disorders Register in 2000–2021. Patients at first visit were classified as having a clinically isolated syndrome (CIS), relapsing–remitting (RR), primary progressive (PP), progressive-relapsing (PR), or secondary progressive MS (SP). Demographic and clinical characteristics were analyzed, with centers’ characteristics, geographic macro-ar…

Multiple SclerosisCenters’ characteristics; Italian Multiple Sclerosis Register; Multiple sclerosis phenotypes; Real-world dataSettore MED/42 - Igiene Generale e ApplicataItalian Multiple Sclerosis RegisterDermatologyGeneral MedicineMultiple Sclerosis Chronic ProgressiveSettore MED/26Settore SECS-S/04 - DemografiaCenters’ characteristicsMultiple sclerosis phenotypeReal-world dataSettore MED/01 - Statistica MedicaPsychiatry and Mental healthMultiple Sclerosis Relapsing-RemittingPhenotypeRecurrenceHumansFemaleSettore MED/26 - NeurologiaNeurology (clinical)Centers’ characteristicReferral and ConsultationMultiple sclerosis phenotypes
researchProduct

The Italian multiple sclerosis register

2019

The past decade has seen extraordinary increase in worldwide availability of and access to several large multiple sclerosis (MS) databases and registries. MS registries represent powerful tools to provide meaningful information on the burden, natural history, and long-term safety and effectiveness of treatments. Moreover, patients, physicians, industry, and policy makers have an active interest in real-world observational studies based on register data, as they have the potential to answer the questions that are most relevant to daily treatment decision-making. In 2014, the Italian MS Foundation, in collaboration with the Italian MS clinical centers, promoted and funded the creation of the …

Register (sociolinguistics)AdultMaleKnowledge managementDatabases FactualEpidemiologymedia_common.quotation_subjectDisease epidemiologyEpidemiology; Multiple sclerosis; Quality of care; RegisterLongitudinal StudieDermatologyNOCohort StudiesMultiple sclerosisDatabases03 medical and health sciences0302 clinical medicineMultiple SclerosiHumansQuality (business)Longitudinal Studies030212 general & internal medicineRegistriesEpidemiology Multiple sclerosis Quality of care Register Adult Cohort Studies Data Collection Databases Factual Female; Humans Italy; Longitudinal Studies Male Multiple Sclerosis RegistriesQuality of careFactualmedia_commonData collectionbusiness.industryData CollectionQuality of careCorrectionEpidemiology; Multiple sclerosis; Quality of care; Register; Adult; Cohort Studies; Data Collection; Databases Factual; Female; Humans; Italy; Longitudinal Studies; Male; Multiple Sclerosis; RegistriesGeneral MedicineRegisterItalyRegister dataPsychiatry and Mental HealthObservational studyOriginal ArticleSettore MED/26 - NeurologiaFemaleBusinessNeurology (clinical)Cohort Studie030217 neurology & neurosurgeryEpidemiology; Multiple sclerosis; Quality of care; Register; 2708; Neurology (clinical); Psychiatry and Mental Health2708Human
researchProduct