Search results for "Sclerosis"

showing 10 items of 1583 documents

The HLA locus and multiple sclerosis in Sicily

2005

The authors report the analysis of HLA-class II allelic heterogeneity in a well characterized multiple sclerosis (MS) Sicilian dataset. Family-based association analysis revealed evidence for excess transmission to affected individuals for alleles HLA-DRB1*1501, DRB1*04, and DQB1*0302. When analyzed as haplotypes, the authors observed excess transmission for the DRB1*0400-DQB1*0302 haplotype. Sicilian patients share the HLA-DRB1*1501 susceptibility allele with affecteds living in continental Italy, but also display the allelic heterogeneity that characterizes Mediterranean populations.

AdultMaleRiskmusculoskeletal diseasesMultiple SclerosisAdolescentGenes MHC Class IILocus (genetics)Human leukocyte antigenBiologySeverity of Illness IndexLinkage DisequilibriumCohort StudiesDisability EvaluationGene Frequencyimmune system diseasesMultiple Sclerosis/epidemiologyPrevalencemedicineHumansGenetic Predisposition to DiseaseAge of OnsetAlleleskin and connective tissue diseasesSicilyAllelesGenetic associationGeneticsHLA-D AntigensIncidenceMultiple sclerosisHaplotypeGene Poolmedicine.diseaselanguage.human_languageSettore BIO/18 - GeneticaHaplotypeslanguageFemaleAllelic heterogeneitySettore MED/26 - NeurologiaNeurology (clinical)Sicilian
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Sporadic ALS is not associated with VAPB gene mutations in Southern Italy

2006

Abstract Mutations in the Cu/Zn superoxide dismutase (Sod1) gene have been reported to cause adult-onset autosomal dominant Amyotrophic Lateral Sclerosis (FALS). In sporadic cases (SALS) de novo mutations in the Sod1 gene have occasionally been observed. The recent finding of a mutation in the VAMP/synaptobrevin-associated membrane protein B (VAPB) gene as the cause of amyotrophic lateral sclerosis (ALS8), prompted us to investigate the entire coding region of this gene in SALS patients. One hundred twenty-five unrelated patients with adult-onset ALS and 150 healthy sex-age-matched subjects with the same genetic background were analyzed. Genetic analysis for all exons of the VAPB gene by DH…

AdultMaleSOD1Vesicular Transport ProteinsGlutamic AcidBiologyGene mutationmedicine.disease_causeGenetic analysisGeneral Biochemistry Genetics and Molecular BiologyPharmacology Toxicology and Pharmaceutics(all)03 medical and health sciencesExon0302 clinical medicineGene FrequencymedicineHumansCoding regionGeneral Pharmacology Toxicology and PharmaceuticsGeneAged030304 developmental biologyMedicine(all)Aged 80 and overGeneticsAspartic Acid0303 health sciencesMutationBase SequenceBiochemistry Genetics and Molecular Biology(all)Brief ReportAmyotrophic Lateral SclerosisGenetic VariationExonsGeneral MedicineMiddle AgedVAPBMolecular biologyIntrons3. Good healthAmino Acid SubstitutionItalyCase-Control StudiesMutationFemale030217 neurology & neurosurgeryJournal of Negative Results in BioMedicine
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Obesity, hypertension and atherosclerosis

1993

Hypertension and obesity are associated with an increased risk of clinical cardiovascular complications due to atherosclerosis. Moreover has been reported that hypertension may predispose to atheroma development. In the present review some common aspects to hypertension and atherosclerosis including smooth muscle cell proliferation, endothelial damage and intervention of growth factors have been analyzed. Additional data have to be provided to explain if the connections between hypertension and atherosclerosis could be considered two effects with one unknown cause. In addition some aspects related to obesity and atherosclerosis have been dissected. In particular we have reported our results…

AdultMaleSettore MED/09 - Medicina InternaArteriosclerosisMyocardial InfarctionLipidsSettore MED/45 - Scienze Infermieristiche Generali Cliniche E PediatricheSettore MED/11 - Malattie Dell'Apparato CardiovascolareBlood Coagulation FactorsObesity hypertension atherosclerosisRisk FactorsHypertensionPrevalenceHumansFemaleObesity
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Sleep-wake disturbances in patients with amyotrophic lateral sclerosis

2011

Objective To evaluate the frequency, severity and determinants of sleep disturbances in patients with amyotrophic lateral sclerosis (ALS). Methods Information about night-time complaints was collected using a standardised questionnaire, the Pittsburgh Sleep Quality Index (PSQI), and the Epworth Sleepiness Scale (ESS) in a group of 100 patients with ALS and in 100 control subjects matched for age and sex. Functional disability was assessed using the ALS Functional Rating Scale-Revised (ALSFRS-R). Sleep was studied by overnight polysomnography in 12 patients. Results Fifty-nine patients with ALS and 36 controls reported sleep disturbances. The mean global PSQI score of patients with ALS was s…

AdultMaleSleep Wake Disordersmedicine.medical_specialtyNeuromuscular diseasePolysomnographyPolysomnographySeverity of Illness IndexPittsburgh Sleep Quality IndexSurveys and QuestionnairesmedicineHumansNocturiaamyotrophic lateral sclerosis sleep disordersWakefulnessAmyotrophic lateral sclerosisDepression (differential diagnoses)Agedmedicine.diagnostic_testEpworth Sleepiness ScaleAmyotrophic Lateral SclerosisMiddle Agedmedicine.diseaseSleep in non-human animalsPsychiatry and Mental healthCase-Control StudiesPhysical therapyFemaleSurgeryNeurology (clinical)medicine.symptomSleepPsychologyJournal of Neurology, Neurosurgery & Psychiatry
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Fatigue in multiple sclerosis is closely related to sleep disorders: a polysomnographic cross-sectional study.

2011

Background: Sleep disorders can cause tiredness. The relationship between sleep disorders and fatigue in patients with multiple sclerosis (MS) has not yet been investigated systematically. Objective: To investigate the relationship between fatigue and sleep disorders in patients with MS. Methods: Some 66 MS patients 20 to 66 years old were studied by overnight polysomnography. Using a cut-off point of 45 in the Modified Fatigue Impact Scale (MFIS), the entire cohort was stratified into a fatigued MS subgroup ( n = 26) and a non-fatigued MS subgroup ( n = 40). Results: Of the fatigued MS patients, 96% ( n = 25) were suffering from a relevant sleep disorder, along with 60% of the non-fatigue…

AdultMaleSleep Wake Disordersmedicine.medical_specialtyPeriodic limb movement disorderMultiple SclerosisPolysomnographyNeurological disorderPolysomnographyRisk AssessmentCentral nervous system diseaseYoung AdultRisk FactorsInternal medicineGermanySurveys and QuestionnairesmedicineInsomniaOdds RatioHumansRestless legs syndromeFatigueAgedSleep disordermedicine.diagnostic_testbusiness.industryMiddle Agedmedicine.diseaseCross-Sectional StudiesLogistic ModelsNeurologyCohortPhysical therapyFemaleNeurology (clinical)medicine.symptombusinessSleepMultiple sclerosis (Houndmills, Basingstoke, England)
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Moral reasoning and moral conflict in patients of the amyotrophic lateral sclerosis – Frontotemporal dementia spectrum

2020

The aim of this study was to investigate the moral reasoning and moral conflict in patients of the amyotrophic lateral sclerosis – frontotemporal dementia (ALSFTD) spectrum. Ten ALS patients without cognitive impairment, 10 ALS patients with cognitive or behavioral impairment, 10 ALSFTD patients and 23 controls were examined with neuropsychological and behavioral tests as well as with a set of eight well -designed moral dilemmas. The responses to the moral dilemmas were used as proxies to evaluate interpersonal moral reasoning. Reactivity to change, reaction time and arousal were used as markers of moral conflict. ALSFTD patients showed more “utilitarian” responses and less moral conflict t…

AdultMaleSocial PsychologyDecision MakingMoral reasoningDevelopmentNeuropsychological TestsMoralsfrontotemporal dementia050105 experimental psychologyConflict Psychological03 medical and health sciencesBehavioral NeuroscienceDisability EvaluationMoral conflict0302 clinical medicineMental ProcessesmedicineReaction TimeHumans0501 psychology and cognitive sciencesIn patientAmyotrophic lateral sclerosishealth care economics and organizationsAgedPsychiatric Status Rating Scalesmoral reasoning05 social sciencesmoral conflictMiddle Agedmedicine.diseaseAmyotrophic lateral sclerosishumanitiesMoral reasoningFemalePsychologyCognition Disorders030217 neurology & neurosurgeryFrontotemporal dementiaFrontotemporal dementiaClinical psychologySocial Neuroscience
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Sensitivity of laser-evoked potentials versus somatosensory evoked potentials in patients with multiple sclerosis

2003

Somatosensory evoked potentials (SEPs) play a less important role in the diagnosis of multiple sclerosis (MS) than visually evoked potentials. Since standard SEPs only reflect the dorsal column function, we now investigated spinothalamic tract function in patients with MS using laser-evoked potentials (LEPs).LEPs to thulium laser stimuli (3ms, 540 mJ, 5mm diameter) were recorded from 3 midline positions (Fz, Cz, Pz) in 20 patients with MS, and 6 patients with possible but unconfirmed MS. Peak latencies and peak-to-peak amplitude of the vertex potential negativity (N2) and positivity (P2) were evaluated and compared with normative values from 22 healthy control subjects. Median and tibial ne…

AdultMaleSpinothalamic tractmedicine.medical_specialtyPathologyMultiple SclerosisSpinothalamic TractsHydrocortisoneLaser-Evoked PotentialsInfrared RaysAnti-Inflammatory AgentsAudiologySomatosensory systemPoser criteriaEvoked Potentials SomatosensoryPhysiology (medical)Reaction TimemedicineHumansTibial nerveLegLasersMultiple sclerosisReproducibility of ResultsElectroencephalographyMiddle AgedHandmedicine.diseaseMagnetic Resonance ImagingSensory SystemsNociceptionmedicine.anatomical_structureNeurologySomatosensory evoked potentialCase-Control StudiesImmunoglobulin GSensory ThresholdsFemaleNeurology (clinical)PsychologyClinical Neurophysiology
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Real-life impact of early interferon beta therapy in relapsing multiple sclerosis.

2009

OBJECTIVE: Recent findings support greater efficacy of early vs. delayed interferon beta (IFNbeta) treatment in patients with a first clinical event suggestive of multiple sclerosis (MS). We aimed to evaluate the effectiveness of early IFNbeta treatment in definite relapsing-remitting MS (RRMS) and to assess the optimal time to initiate IFNbeta treatment with regard to the greatest benefits on disability progression. METHODS: A cohort of 2,570 IFNbeta-treated RRMS patients was prospectively followed for up to 7 years in 15 Italian MS Centers. A Cox proportional hazards regression model adjusted for propensity score (PS) quintiles was used to assess differences between groups of patients wit…

AdultMaleTime FactorsMultiple Sclerosis; Interferon betaInterferon-beta.Interferon betaCohort StudiesYoung AdultMultiple Sclerosis Relapsing-RemittingTreatment Outcomeobservational study multiple sclerosis interferon treatment earlySickness Impact ProfileMultiple SclerosiQuality of LifeHumansFemaleSettore MED/26 - NeurologiaProspective StudiesFollow-Up Studies
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The Italian Multiple Sclerosis Database Network (MSDN): The risk of worsening according to IFNβ exposure in multiple sclerosis

2006

We evaluated the risk of worsening according to the length of exposure to interferon beta (IFNβ)ina large cohort of 2090 multiple sclerosis patients collected by the Italian MS Database Network. Overall 44-140 patient-visits with a follow-up of 22-143 patient-years were evaluated. Forty-one per cent of patients were exposed to IFNβ for up to 2 years, 39% for 2- 4 years and 20% for more than 4 years. A Cox regression model was used to analyse two clinical outcomes: disability progression and worsening of relapse rate. The technique of propensity score was applied to reduce bias in the comparison of non-randomized groups. The risks of disability progression (HR=0.23; 95% CI: 0.17 - 0.30) and …

AdultMaleTime Factorscomputer.software_genreCentral nervous system diseaseCohort Studies03 medical and health sciencesDisability Evaluation0302 clinical medicineAdjuvants ImmunologicmedicineHumansImmunologic Factors030212 general & internal medicineRisk factorMULTIPLE SCLEROSISDemographyProportional Hazards ModelsRISKAnalysis of VarianceDatabasebusiness.industryProportional hazards modelMultiple sclerosisInterferon-betaIFNP; Long term effectiveness; Multiple sclerosis; Observational studies;Middle Agedmedicine.diseaseTreatment OutcomeNeurologyDatabases as TopicItalyPropensity score matchingDisease ProgressionRegression AnalysisObservational studyFemaleNeurology (clinical)Analysis of variancebusinesscomputer030217 neurology & neurosurgeryCohort study
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The frequency and characteristics of idiopathic osteosclerosis and condensing osteitis lesions in a Turkish patient population.

2009

The objective of this study was to investigate the frequency of idiopathic osteosclerosis (IO) and condensing osteitis (CO) in a Turkish patient population, considering factors such as age and sex of the population, in addition to shape and localization, as well as the dental relationship between IO and CO lesions.A retrospective study was performed using panoramic radiographs of 6,154 patients ranging in age from 5 to 69 years old, who had been subjected to dental treatment. Descriptive characteristics of radiopacities, including shape, localization and dental relationship were recorded. The Chi-squared test was used.A total of 238 radiopacities were detected, which included 185 IO lesions…

AdultMaleTurkish populationmedicine.medical_specialtyAdolescentTurkeyRadiographyCondensing osteitisDentistryIdiopathic osteosclerosisYoung AdultRadiography PanoramicMedicineHumansPulpitisYoung adultChildGeneral DentistryOsteitisAgedRetrospective Studiesbusiness.industryRetrospective cohort studyMiddle Agedmedicine.disease:CIENCIAS MÉDICAS [UNESCO]SurgeryPatient populationOtorhinolaryngologyChild PreschoolUNESCO::CIENCIAS MÉDICASSurgeryFemalebusinessOsteosclerosisMedicina oral, patologia oral y cirugia bucal
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