0000000001305694

AUTHOR

Giuseppe Lauria

showing 11 related works from this author

The MITOS system predicts long-term survival in amyotrophic lateral sclerosis

2015

ObjectiveThe choice of adequate proxy for long-term survival, the ultimate outcome in randomised clinical trials (RCT) assessing disease-modifying treatments for amyotrophic lateral sclerosis (ALS), is a key issue. The intrinsic limitations of the ALS Functional Rating Scale-Revised (ALSFRS-R), including non-linearity, multidimensionality and floor-effect, have emerged and its usefulness argued. The ALS Milano-Torino staging (ALS-MITOS) system was proposed as a novel tool to measure the progression of ALS and overcome these limitations. This study was performed to validate the ALS-MITOS as a 6-month proxy of survival in 200 ALS patients followed up to 18 months.MethodsAnalyses were performe…

MalePredictive Value of TestWalkingLogistic regressionALS; MOTOR NEURON DISEASE; NEUROMUSCULAR; RANDOMISED TRIALS; Adult; Aged; Amyotrophic Lateral Sclerosis; Communication; Deglutition; Disability Evaluation; Disease Progression; Double-Blind Method; Female; Humans; Male; Middle Aged; Noninvasive Ventilation; Predictive Value of Tests; ROC Curve; Respiration; Self Care; Survival Analysis; Walking; Neurology (clinical); Psychiatry and Mental Health; Surgery; Arts and Humanities (miscellaneous); Medicine (all)law.inventionALS long-term survival ALSFRS-RDisability EvaluationRandomized controlled triallawNEUROMUSCULARAmyotrophic lateral sclerosisMOTOR NEURON DISEASEALS; MOTOR NEURON DISEASE; NEUROMUSCULAR; RANDOMISED TRIALS; Neurology (clinical); Psychiatry and Mental Health; Surgery; Arts and Humanities (miscellaneous)CommunicationRespirationMedicine (all)Area under the curveMiddle Agedals motor neuron disease neuromuscular randomised trialsPsychiatry and Mental HealthPredictive value of testsDisease ProgressionSettore MED/26 - NeurologiaFemaleSurvival AnalysiHumanAdultmedicine.medical_specialtyNOSwallowingDouble-Blind MethodArts and Humanities (miscellaneous)Predictive Value of TestsInternal medicinemedicineRANDOMISED TRIALSHumansSurvival analysisAgedNoninvasive VentilationReceiver operating characteristicbusiness.industryAmyotrophic Lateral Sclerosisals; motor neuron disease; neuromuscular; randomised trials; adult; aged; amyotrophic lateral sclerosis; communication; deglutition; disability evaluation; disease progression; double-blind method; female; humans; male; middle aged; noninvasive ventilation; predictive value of tests; roc curve; respiration; self care; survival analysis; walking; neurology clinical; psychiatry and mental health; surgery; arts and humanities ; medicinemedicine.diseaseSurvival AnalysisSurgeryDeglutitionSelf CareALS; MOTOR NEURON DISEASE; NEUROMUSCULAR; RANDOMISED TRIALS; Adult; Aged; Amyotrophic Lateral Sclerosis; Communication; Deglutition; Disability Evaluation; Disease Progression; Double-Blind Method; Female; Humans; Male; Middle Aged; Noninvasive Ventilation; Predictive Value of Tests; ROC Curve; Respiration; Self Care; Survival Analysis; Walking; Surgery; Arts and Humanities (miscellaneous); Neurology (clinical); Psychiatry and Mental HealthROC CurveSurgeryNeurology (clinical)ALSbusinessAmyotrophic Lateral Sclerosi
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C9ORF72 in a Large Series of Italian and Sardinian Familial and Sporadic ALS Patients (IN9-1.003)

2012

Objective: To assess the frequency and the phenotype of a large series of Italian sALS and fALS with C9ORF72 repeat expansions. Background Recently we found that large expansions of hexanucleotide repeats (GGGGCC) in the first intron of the C9ORF72 gene, located in the chromosome 9p21, are related to familial and sporadic ALS cases(Renton et al, 2011). Design/Methods: We assessed 126 index fALS (106 Italians, 20 of Sardinians) and 601 sALS (485 Italians, 116 Sardinians), negative for other ALS-related genes mutations. Patients were collected through the ITALSGEN consortium. Repeat primer PCR to screen the presence of the hexanucleotide expansion in the first intron of C9ORF72 have been perf…

business.industryLarge seriesPedigree chartmedicine.diseasePenetranceC9orf72NothingAnticipation (genetics)MedicineNeurology (clinical)businessTrinucleotide repeat expansionDemographyFrontotemporal dementiaNeurology
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Wastewater surveillance of SARS-CoV-2 variants in October-November 2022 in Italy: detection of XBB.1, BA.2.75 and rapid spread of the BQ.1 lineage

2023

This study adds insight regarding the occurrence and spread of SARS-CoV-2 Variants of Concern (VOCs) and Var-iants of Interest (VOIs) in Italy in October and November 2022, by testing urban wastewater collected through-out the country. A total of 332 wastewater samples were collected from 20 Italian Regions/Autonomous Provinces (APs) within the framework of national SARS-CoV-2 environmental surveillance. Of these, 164 were collected in the first week of October and 168 in the first week of November. A similar to 1600 bp fragment of the spike protein was sequenced by Sanger (for individual samples) and long-read nanopore sequencing (for pooled Region/AP samples).In October, mutations charact…

BA2.75Environmental EngineeringSurveillanceMED/42 - IGIENE GENERALE E APPLICATAOmicronSARS-CoV-2BQ.1BA2.75; BQ.1; Omicron; SARS-CoV-2; Surveillance; Wastewater; XBB.1WastewaterBIO/19 - MICROBIOLOGIA GENERALEPollutionMED/07 - MICROBIOLOGIA E MICROBIOLOGIA CLINICABA2.75 BQ.1 Omicron SARS-CoV-2 Surveillance Wastewater XBB.1XBB.1Environmental ChemistryWaste Management and Disposal
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Dataset related to article "Chronic inflammatory demyelinating polyradiculoneuropathy: can a diagnosis be made in patients not fulfilling electrodiag…

2021

This record contains data related to article “Chronic inflammatory demyelinating polyradiculoneuropathy: can a diagnosis be made in patients not fulfilling electrodiagnostic criteria?" Abstract Background and purpose: The aim was to identify the clinical and diagnostic investigations that may help to support a diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in patients not fulfilling the European Federation of Neurological Societies and Peripheral Nerve Society (EFNS/PNS) electrodiagnostic criteria. Methods: The data from patients with a clinical diagnosis of CIDP included in a national database were retrospectively reviewed. Results: In all, 535 p…

chronic inflammatory demyelinating polyradiculoneuropathydiagnostic criteriaelectrophysiology
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Cisplatin-induced peripheral neuropathy: neuroprotection by erythropoietin without affecting tumour growth

2007

This study examined the dose-dependent efficacy of erythropoietin (EPO) for preventing and/or treating cisplatin (CDDP) induced peripheral neurotoxicity (CINP), and its influence on tumour treatment and growth. Rats received eight intraperitoneal (ip) injections of 2 mg/kg CDDP twice weekly. EPO co-administered (50 or 10 microg/kg ip, three times/week) had a dose-dependent effect, partially preventing CINP, but 0.5 microg/kg ip was not effective. The neuroprotective effect lasted at least 5 weeks after the last dose of EPO and CDDP. In addition, EPO (50 microg/kg ip three times/week) after the last injection of CDDP still induced a significant recovery of CINP. In a separate experiment in r…

medicine.medical_specialtyCancer ResearchPeripheral neuropathyNeural ConductionNeurophysiologyAntineoplastic AgentsHindlimbHematocritNeuroprotectionAntineoplastic AgentInternal medicinemedicinePathologyAnimalsRats WistarErythropoietinCisplatincisplatin; Erythropoietin; peripheral neuropathy; tumor growthmedicine.diagnostic_testDose-Response Relationship Drugbusiness.industryAnimalNeurotoxicityPeripheral Nervous System DiseasesMammary Neoplasms ExperimentalTumour growthHematologymedicine.diseaseRatsHindlimbDose–response relationshipPeripheral neuropathyEndocrinologyOncologyHematocritErythropoietinRatFemalePeripheral Nervous System DiseaseCisplatinbusinessCell Divisionmedicine.drug
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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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Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database

2019

ObjectivesA few variants of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) have been described, but their frequency and evolution to typical CIDP remain unclear. To determine the frequency and characteristics of the CIDP variants, their possible evolution to typical CIDP, and treatment response.MethodsWe applied a set of diagnostic criteria to 460 patients included in a database of Italian patients with CIDP. Clinical characteristics and treatment response were reviewed for each patient. The Kaplan-Meier curve was used to estimate the progression rate from atypical to typical CIDP.ResultsAt the time of inclusion, 376 (82%) patients had a diagnosis of typical CIDP while 84 …

AdultMaleTreatment responselewis-sumner syndromeAdolescentDatabases FactualDisease durationchronic inflammatory demyelinating polyradiculoneuropathy; CIDP; diagnostic criteria; distal acquired demyelinating symmetric neuropathy; lewis-sumner syndrome; Surgery; Neurology (clinical); Psychiatry and Mental HealthKaplan-Meier EstimateCIDPcomputer.software_genreDisease courseYoung Adultlewis–sumner syndrome03 medical and health sciences0302 clinical medicineHumansMedicineIn patientChildAgedRetrospective StudiesAged 80 and overchronic inflammatory demyelinating polyradiculoneuropathyRetrospective reviewdistal acquired demyelinating symmetric neuropathyDatabasebusiness.industryPolyradiculoneuropathyMiddle Agedchronic inflammatory demyelinating polyradiculoneuropathy; CIDP; diagnostic criteria; distal acquired demyelinating symmetric neuropathy; lewis-sumner syndromemedicine.diseasePsychiatry and Mental healthchronic inflammatory demyelinating polyradiculoneuropathy; CIDP; diagnostic criteria; distal acquired demyelinating symmetric neuropathy; lewis-sumner syndrome; surgery; neurology ; psychiatry and mental healthItalyPolyradiculoneuropathy Chronic Inflammatory Demyelinatingdiagnostic criteriaDisease ProgressionFemaleSettore MED/26 - NeurologiaSurgeryProgression rateNeurology (clinical)CIDP; chronic inflammatory demyelinating polyradiculoneuropathy; diagnostic criteria; distal acquired demyelinating symmetric neuropathy; lewis–sumner syndromebusinesscomputer030217 neurology & neurosurgeryJournal of Neurology, Neurosurgery & Psychiatry
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Protein misfolding, amyotrophic lateral sclerosis and guanabenz: Protocol for a phase II RCT with futility design (ProMISe trial)

2017

IntroductionRecent studies suggest that endoplasmic reticulum stress may play a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS) through an altered regulation of the proteostasis, the cellular pathway-balancing protein synthesis and degradation. A key mechanism is thought to be the dephosphorylation of eIF2α, a factor involved in the initiation of protein translation. Guanabenz is an alpha-2-adrenergic receptor agonist safely used in past to treat mild hypertension and is now an orphan drug. A pharmacological action recently discovered is its ability to modulate the synthesis of proteins by the activation of translational factors preventing misfolded protein accumula…

0301 basic medicineOncologyPathologyamyotrophic lateral sclerosisamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response; adrenergic alpha-2 receptor agonist s; age of onset; amyotrophic lateral sclerosis; disease progression; double-blind method; endoplasmic reticulum stress; guanabenz; humans; italy; medical futility; neuroprotective agents; proteostasis deficienciesamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response; Medicine (all)randomized clinical trial guanabenzHelsinki declaration0302 clinical medicineProtocolAdrenergic alpha-2 Receptor Agonists1506Amyotrophic lateral sclerosisAge of OnsetGuanabenzMedicine (all)amyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein responseNeurodegenerationamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response;amyotrophic lateral sclerosis; guanabenz; motor neurone disease; neuromuscular disease; randomized clinical trial; unfolded protein response; Adrenergic alpha-2 Receptor Agonists; Age of Onset; Amyotrophic Lateral Sclerosis; Disease Progression; Double-Blind Method; Endoplasmic Reticulum Stress; Guanabenz; Humans; Italy; Medical Futility; Neuroprotective Agents; Proteostasis DeficienciesGeneral Medicineunfolded protein responseEndoplasmic Reticulum StressRiluzoleNeuroprotective AgentsNeurologyTolerabilityItalyDisease Progression1713GuanabenzMedical Futilitymedicine.drugmedicine.medical_specialtyamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response; Adrenergic alpha-2 Receptor Agonists; Age of Onset; Amyotrophic Lateral Sclerosis; Disease Progression; Double-Blind Method; Endoplasmic Reticulum Stress; Guanabenz; Humans; Italy; Medical Futility; Neuroprotective Agents; Proteostasis Deficiencies; Medicine (all)Neuroprotection03 medical and health sciencesmotor neurone diseaseDouble-Blind MethodInternal medicinemedicineHumansProteostasis Deficienciesbusiness.industryAmbientaleneuromuscular diseaserandomized clinical trialmedicine.diseaseClinical trial030104 developmental biologybusiness030217 neurology & neurosurgery
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Sensitivity and specificity of a commercial ELISA test for anti-MAG antibodies in patients with neuropathy

2020

For the diagnosis of anti-MAG polyneuropathy the commercial ELISA manufacturer currently recommends a cut-off of 1000 Bühlmann Titer Units (BTU). We analyzed sera from 80 anti-MAG neuropathy patients and 383 controls (with other neuropathies or healthy controls) to assess the ELISA sensitivity and specificity at different thresholds. A better combination of sensitivity/specificity was found at a threshold >1500 BTU than at >1000 BTU. The best value of specificity was obtained at threshold >7000 BTU. There was a diagnostic grey area between 1500 and 7000 BTU in which the clinical phenotypes as well as electrophysiological studies need to be carefully assessed particularly to differe…

0301 basic medicinemedicine.medical_specialtyanti-MAG polyneuropathy; chronic inflammatory demyelinating polyradiculoneuropathy; ELISA; sensitivity; specificity; autoantibodies; case-control studies; enzyme-linked immunosorbent assay; humans; myelin-associated glycoprotein; polyneuropathies; retrospective studiesImmunologyAnti-MAG polyneuropathyEnzyme-Linked Immunosorbent AssaySettore MED/26GastroenterologyPolyneuropathies03 medical and health sciencesSensitivity0302 clinical medicineInternal medicinemedicineHumansImmunology and AllergyIn patientAutoantibodiesRetrospective Studieschronic inflammatory demyelinating polyradiculoneuropathyAnti-MAG polyneuropathy chronic inflammatory demyelinating polyradiculoneuropathybiologybusiness.industryAnti magAnti-MAG polyneuropathy chronic inflammatory demyelinating polyradiculoneuropathy; ELISA; Sensitivity; Specificitymedicine.diseaseAutoantibodieMyelin-Associated GlycoproteinTiter030104 developmental biologyPolyneuropathienervous systemNeurologyCase-Control StudiesElisa testSpecificitybiology.proteinELISANeurology (clinical)AntibodyCase-Control StudiebusinessSensitivity (electronics)Polyneuropathy030217 neurology & neurosurgeryHumanJournal of Neuroimmunology
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Risk factors for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): antecedent events, lifestyle and dietary habits. Data from the Ita…

2020

Background and purpose: The role of lifestyle and dietary habits and antecedent events has not been clearly identified in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Methods: Information was collected about modifiable environmental factors and antecedent infections and vaccinations in patients with CIDP included in an Italian CIDP Database. Only patients who reported not having changed their diet or the lifestyle habits investigated in the study after the appearance of CIDP were included. The partners of patients with CIDP were chosen as controls. Gender-matched analysis was performed with randomly selected controls with a 1:1 ratio of patients and controls. Results: D…

AdultMalemedicine.medical_specialtylifestyleDatabases FactualDiseasecomputer.software_genreSettore MED/26chronic inflammatory demyelinating neuropathy; chronic inflammatory demyelinating polyradiculoneuropathy; diet; epidemiology; infections; lifestyle; vaccination03 medical and health sciences0302 clinical medicineRisk FactorsEpidemiologymedicineHumans030212 general & internal medicineinfectionsRisk factorChildLife Stylechronic inflammatory demyelinating polyradiculoneuropathyDatabasebusiness.industryAntecedent variablechronic inflammatory demyelinating neuropathyPolyradiculoneuropathyFeeding BehaviorMiddle Agedmedicine.diseasevaccinationinfectionSettore MED/26 - NEUROLOGIAAntecedent (behavioral psychology)ItalyPolyradiculoneuropathy Chronic Inflammatory DemyelinatingNeurologyFemaleepidemiologyNeurology (clinical)ComplicationbusinessLifestyle habitsdietcomputer030217 neurology & neurosurgery
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Dataset relative to article "Sensitivity and specificity of a commercial ELISA test for anti-MAG antibodies in patients with neuropathy"

2021

This record contains data related to article “Sensitivity and specificity of a commercial ELISA test for anti-MAG antibodies in patients with neuropathy". Abstract For the diagnosis of anti-MAG polyneuropathy the commercial ELISA manufacturer currently recommends a cut-off of 1000 Bühlmann Titer Units (BTU). We analyzed sera from 80 anti-MAG neuropathy patients and 383 controls (with other neuropathies or healthy controls) to assess the ELISA sensitivity and specificity at different thresholds. A better combination of sensitivity/specificity was found at a threshold >1500 BTU than at >1000 BTU. The best value of specificity was obtained at threshold >7000 BTU. There…

chronic inflammatory demyelinating polyradiculoneuropathySensitivitynervous systemAnti-MAG polyneuropathyELISASpecificity.
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