0000000000903519

AUTHOR

Lucio Tremolizzo

showing 5 related works from this author

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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HFE p.H63D polymorphism does not influence ALS phenotype and survival.

2015

It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29.2%) were heterozygous (GC) for the p.His63Asp polymorphism and 30 (2.2%) were homozygous for the minor allele (GG). Patients with CC, GC, and GG polymorphisms did not significa…

MaleAgingSurvivalSettore MED/03 - GENETICA MEDICAMiceSuperoxide Dismutase-1C9orf72HFE polymorphismAmyotrophic lateral sclerosisAmyotrophic lateral sclerosis; HFE polymorphisms; Phenotype; SOD1; Survival; Aged; Alleles; Amyotrophic Lateral Sclerosis; Animals; Disease Progression; Female; Hemochromatosis Protein; Histocompatibility Antigens Class I; Humans; Italy; Male; Membrane Proteins; Mice; Middle Aged; Polymorphism Genetic; Superoxide Dismutase; Superoxide Dismutase-1; Survival Rate; Genetic Association Studies; PhenotypeHFE polymorphismsMembrane ProteinAlleleAmyotrophic lateral sclerosis; HFE polymorphisms; Phenotype; SOD1; Survival; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and GerontologyGeneral NeuroscienceSOD1Middle AgedPhenotypeSurvival RatePhenotypeItalyAmyotrophic lateral sclerosis; HFE polymorphisms; SOD1; phenotype; survivalDisease ProgressionFemaleHumanmedicine.medical_specialtySOD1Amyotrophic lateral sclerosis; HFE polymorphisms; Phenotype; SOD1; Survival;Genetic Association StudieBiologyTARDBPArticleGeneticInternal medicinemedicineAnimalsHumansAllelePolymorphismHemochromatosis ProteinSurvival rateAmyotrophic lateral sclerosiAllelesGenetic Association StudiesAgedNeuroscience (all)Polymorphism GeneticAnimalSuperoxide DismutaseAmyotrophic Lateral SclerosisHistocompatibility Antigens Class Inutritional and metabolic diseasesMembrane Proteinsmedicine.diseaseMinor allele frequencyEndocrinologyImmunologyNeurology (clinical)Geriatrics and GerontologyDevelopmental BiologyNeurobiology of aging
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Drug Prescription and Delirium in Older Inpatients: Results From the Nationwide Multicenter Italian Delirium Day 2015-2016

2019

Objective This study aimed to evaluate the association between polypharmacy and delirium, the association of specific drug categories with delirium, and the differences in drug-delirium association between medical and surgical units and according to dementia diagnosis. Methods Data were collected during 2 waves of Delirium Day, a multicenter delirium prevalence study including patients (aged 65 years or older) admitted to acute and long-term care wards in Italy (2015-2016); in this study, only patients enrolled in acute hospital wards were selected (n = 4,133). Delirium was assessed according to score on the 4 "A's" Test. Prescriptions were classified by main drug categories; polypharmacy w…

Malediagnosismedications0302 clinical medicinepreventionAged 80 and over; Delirium; Drug Prescriptions; Female; Hospital Departments; Humans; Male; Prevalence; Polypharmacy; Prescription Drugs80 and overPrevalenceMedicineLS4_4030212 general & internal medicineAcute hospitalmedia_commonAged 80 and overConfoundingelderly patients hip fracture hospitalized patients prediction rule risk factor dementia events medications prevention diagnosisrisk-factorrisk factorhip fracturePsychiatry and Mental HealthFemalemedicine.symptomeventsDrugmedicine.medical_specialtyPrescription Drugshospitalized-patientsmedia_common.quotation_subjectMEDLINEHospital DepartmentsSocio-culturaleelderly-patientselderly patientsbehavioral disciplines and activitiesDrug Prescriptions03 medical and health sciencesInternal medicinemental disordersDementiaHumansMedical prescriptionprediction ruleAgedPolypharmacybusiness.industryhospitalized patientsDeliriummedicine.diseasenervous system diseasesPolypharmacyDeliriumelderly-patients; hip fracture; hospitalized-patients; prediction rule; risk-factor; dementia; events; medications; prevention; diagnosisbusiness030217 neurology & neurosurgerydementia
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"Delirium Day": a nationwide point prevalence study of delirium in older hospitalized patients using an easy standardized diagnostic tool

2016

Background To date, delirium prevalence in adult acute hospital populations has been estimated generally from pooled findings of single-center studies and/or among specific patient populations. Furthermore, the number of participants in these studies has not exceeded a few hundred. To overcome these limitations, we have determined, in a multicenter study, the prevalence of delirium over a single day among a large population of patients admitted to acute and rehabilitation hospital wards in Italy. Methods This is a point prevalence study (called “Delirium Day”) including 1867 older patients (aged 65 years or more) across 108 acute and 12 rehabilitation wards in Italian hospitals. Delirium wa…

MaleCross-sectional studyHospitalized patientsPrevalence0302 clinical medicineSurveys and Questionnaires80 and overOdds RatioPrevalenceMedicine030212 general & internal medicineProspective StudiesProspective cohort studyMulticenterAcute hospital2. Zero hungerAged 80 and overMedicine(all)Medicine (all)Settore BIO/14General Medicine3. Good health4AT; Delirium; Hospital; Multicenter; Prevalence; Aged; Aged 80 and over; Cross-Sectional Studies; Delirium; Female; Humans; Inpatients; Italy; Logistic Models; Male; Odds Ratio; Prevalence; Prospective Studies; Surveys and QuestionnairesItalyFemalemedicine.symptomResearch ArticleRehabilitation hospitalmedicine.medical_specialty4AT; Delirium; Hospital; Multicenter; Prevalence; Aged; Aged 80 and over; Cross-Sectional Studies; Delirium; Female; Humans; Inpatients; Italy; Logistic Models; Male; Odds Ratio; Prevalence; Prospective Studies; Surveys and Questionnaires; Medicine (all)NO03 medical and health sciencesHospital4AT Delirium Hospital Multicenter Prevalence Aged Aged 80 and over Cross-Sectional Studies Delirium Female Humans Inpatients Italy Logistic Models Male Odds Ratio Prevalence Prospective Studies Surveys and Questionnairesmental disordersHumans4ATPsychiatry4AT; Delirium; Hospital; Multicenter; Prevalence;AgedInpatientsbusiness.industryDeliriumOdds ratio4AT; Delirium; Hospital; Multicenter; Prevalence; Medicine (all)Cross-Sectional StudiesLogistic ModelsEmergency medicineDeliriumDelirium; Prevalence; Hospital; Multicenter; 4ATbusiness030217 neurology & neurosurgery
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Generation and validation of algorithms to identify subjects with dementia using administrative data

2019

Objectives: To generate and validate algorithms for the identification of individuals with dementia in the community setting, by the interrogation of administrative records, an inexpensive and already available source of data. Methods: We collected and anonymized information on demented individuals 65 years of age or older from ten general practitioners (GPs) in the district of Brianza (Northern Italy) and compared this with the administrative data of the local health protection agency (Agenzia per la Tutela della Salute). Indicators of the disease in the administrative database (diagnosis of dementia in the hospital discharge records; use of cholinesterase inhibitors/memantine; neuropsycho…

Malemedicine.medical_specialtyNeurologyDatabases FactualAdministrative dataDermatologyDiseaseSensitivity and SpecificityMedical Records03 medical and health sciences0302 clinical medicineSensitivityCost of IllnessmedicinePrevalenceDementiaHumans030212 general & internal medicineMED/01 - STATISTICA MEDICANeuroradiologyAgedAged 80 and overMED/26 - NEUROLOGIAbusiness.industryMedical recordNeuropsychologyMemantineGeneral Medicinemedicine.diseaseAlgorithmPsychiatry and Mental healthItalySpecificityFemaleDementiaNeurology (clinical)NeurosurgerybusinessAlgorithm030217 neurology & neurosurgeryAlgorithmsmedicine.drug
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