0000000000586269

AUTHOR

Davide Bertuzzo

showing 3 related works from this author

Amyotrophic lateral sclerosis outcome measures and the role of albumin and creatinine: a population-based study.

2014

Importance There is an urgent need to identify reliable biomarkers of amyotrophic lateral sclerosis (ALS) progression for clinical practice and pharmacological trials. Objectives To correlate several hematological markers evaluated at diagnosis with ALS outcome in a population-based series of patients (discovery cohort) and replicate the findings in an independent validation cohort from an ALS tertiary center. Design, Setting, and Participants The discovery cohort included 712 patients with ALS from the Piemonte and Valle d’Aosta Register for Amyotrophic Lateral Sclerosis from January 1, 2007, to December 31, 2011. The validation cohort comprised 122 patients with ALS at different stages of…

MaleanalysisGastroenterologyCohort Studieschemistry.chemical_compoundAdult Aged Aged; 80 and over Amyotrophic Lateral Sclerosis; blood/mortality/pathology Biological Markers; blood Cohort Studies Creatinine; blood Disease Progression Female Humans Italy Lymphocyte Count Male Middle Aged Outcome Assessment (Health Care) Predictive Value of Tests Prognosis Sensitivity and Specificity Serum Albumin; analysisblood/mortality/pathologyOutcome Assessment Health Care80 and overAged 80 and overeducation.field_of_studybiologymedicine.diagnostic_testHazard ratioMiddle AgedPrognosisItalyErythrocyte sedimentation rateCreatinineCohortDisease ProgressionSettore MED/26 - NeurologiaBiological MarkersFemaleCohort studyAdultmedicine.medical_specialtyPopulationSerum albuminSensitivity and SpecificityOutcome Assessment (Health Care)bloodPredictive Value of TestsInternal medicinemedicineHumansLymphocyte CounteducationSerum AlbuminAgedCreatininebusiness.industryAmyotrophic Lateral SclerosisAlbuminchemistryImmunologybiology.proteinNeurology (clinical)ALSbusinessBiomarkersJAMA neurology
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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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Persistent idiopathic hypoglossal nerve palsy: A motor neuron disease-mimic syndrome?

2014

Unilateral isolated hypoglossal nerve palsy (IHNP) is a condition (1–7) usually symptomatic of a pathology of the skull base (6,8). In rare cases, IHNP remains of unknown aetiology and is classifie...

MaleHypoglossal Nerve PalsyAdolescentUnknown aetiologybusiness.industryALS mimic syndromeDiseaseAnatomyHypoglossal Nerve DiseasesMotor neuronmedicine.diseaseSkullmedicine.anatomical_structureNeurologymedicineHumansSettore MED/26 - NeurologiaNeurology (clinical)Motor Neuron DiseaseAmyotrophic lateral sclerosisbusiness
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