Search results for "disability"

showing 10 items of 989 documents

Association of CYP2R1 rs10766197 with MS risk and disease progression

2017

Background MS is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Among these, vitamin D and genetic variants associated with vitamin D-metabolism gain great attention. The aim of our study was to assess five SNPs in NADSYN1 and CYP2R1 genes in relation to serum 25-OH-vitamin D3 levels in MS patients and controls. Methods 25-OH-vitamin D3 levels and genotyping of CYP2R1- and NADSYN1-SNPs were investigated both in MS patients and in healthy controls. Results The analysis revealed lower 25-OH-vitamin D3 concentrations in MS patients than in controls and an association of rs10766197 CYP2R1 SNP with MS risk. After stratifying MS p…

AdultMale0301 basic medicineOncologymedicine.medical_specialtyPathologyMultiple SclerosisGenotypeSingle-nucleotide polymorphismPolymorphism Single NucleotideSeverity of Illness IndexpolymorphismDisability Evaluation03 medical and health sciencesCellular and Molecular NeuroscienceSex Factors0302 clinical medicineInternal medicinegendermedicineVitamin D and neurologyHumansSNPGenetic Predisposition to DiseaseNADSYN1AlleleCytochrome P450 Family 2GenotypingRetrospective Studiesbusiness.industryMultiple sclerosisCase-control studyvitamin dMiddle Agedmedicine.diseaseMinor allele frequency030104 developmental biologyCase-Control Studiesmultiple sclerosiDisease ProgressionCYP2R1Cholestanetriol 26-MonooxygenaseFemaleCarbon-Nitrogen Ligases with Glutamine as Amide-N-Donorgeneticbusiness030217 neurology & neurosurgeryJournal of Neuroscience Research
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Higher vitamin B12 levels in neurodevelopmental disorders than in healthy controls and schizophrenia

2020

Recent studies suggest that both high and low levels of vitamin B12 (vitB12) may have negative health impacts. We measured VitB12 in patients with the Neurodevelopmental disorders (ND) (n = 222), comprised of Autism Spectrum Disorders, specific Developmental disorders, and Intellectual Disability (aged 2-53 years), schizophrenia (n = 401), and healthy controls (HC) (n = 483). Age-and gender-adjusted vitB12 z-scores were calculated by comparisons with a reference population (n = 76 148). We found higher vitB12 in ND (median 420 pmol/L, mean z-score: 0.30) than in HC (316 pmol/L, z-score: 0.06, P < .01) and schizophrenia (306 pmol/L, z-score: -0.02, P < .001), which was significant after adju…

AdultMale0301 basic medicinemedicine.medical_specialtyAdolescentRenal functionBiochemistryCobalaminHemoglobinsYoung Adult03 medical and health scienceschemistry.chemical_compoundFolic Acid0302 clinical medicineInternal medicineIntellectual disabilityLeukocytesGeneticsHumansMedicineIn patientVitamin B12ChildMolecular Biologybusiness.industryVitamin B 12 DeficiencyMiddle Agedmedicine.diseaseVitamin B 12030104 developmental biologyEndocrinologychemistryNeurodevelopmental DisordersSchizophreniaCase-Control StudiesChild PreschoolDietary SupplementsSchizophreniaAutismFemaleHemoglobinbusiness030217 neurology & neurosurgeryBiotechnologyThe FASEB Journal
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Application of tRNS to improve multiple sclerosis fatigue: a pilot, single-blind, sham-controlled study

2019

We evaluated the effects of transcranial random noise stimulation (tRNS) on fatigue in 17 subjects with relapsing–remitting multiple sclerosis with low physical disability. Two different patient groups underwent real or sham stimulation for 10 days, targeting the primary motor cortex of the dominant side or contralateral to the most compromised limb. In the ‘real group’, beneficial effects were observed using the Modified Fatigue Impact Scale (p = 0.04; physical subscale: p = 0.03), the subscales ‘change in health’ (p = 0.006) and ‘role limitations due to physical problems’ (p = 0.001) of the Multiple Sclerosis Quality of Life-54, and by assessing the patient impression of perceived fatigue…

AdultMale0301 basic medicinemedicine.medical_specialtyPhysical disabilityNeurologyFatigue treatmentStimulationTranscranial Direct Current StimulationSeverity of Illness IndexPlacebosYoung Adult03 medical and health sciencesMultiple Sclerosis Relapsing-Remitting0302 clinical medicinePhysical medicine and rehabilitationOutcome Assessment Health CaremedicineHumansMultiple sclerosiSingle-Blind MethodBeneficial effectsFatigueBiological Psychiatrybusiness.industryMSQoL-54Multiple sclerosisMotor CortextRNSmedicine.diseaseFatigue impact scalePsychiatry and Mental health030104 developmental biologyPrimary motor areaNeurologyQuality of LifeFemaleMFISNeurology (clinical)Single blindPrimary motor cortexbusiness030217 neurology & neurosurgeryJournal of Neural Transmission
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Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

2020

Abstract Background Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1‐BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3‐BP5). The deletion at BP4‐BP5 is the rearrangement most frequently observed compared to other known deletions in BP3‐BP5 and BP3‐BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speec…

AdultMale0301 basic medicinespeech delayAdolescentlcsh:QH426-470BP3-BP5 deletionspeech delay.Chromosome DisordersLocus (genetics)030105 genetics & heredity03 medical and health sciencesEpilepsySettore MED/38 - Pediatria Generale E SpecialisticaSeizuresIntellectual DisabilityIntellectual disabilitychromosome 15 q13GeneticsmedicineHumansLanguage Development DisordersChildMolecular BiologyGenetics (clinical)GeneticsChromosomes Human Pair 15business.industryBreakpointlanguage impairmentOriginal Articlesmedicine.diseasePhenotypePedigreeBP3‐BP5 deletiondevelopmental delayLanguage developmentlcsh:GeneticsPhenotype030104 developmental biologyBP3-BP5 deletion; chromosome 15 q13; developmental delay; language impairment; speech delaySpeech delayAutismFemaleOriginal ArticleChromosome Deletionmedicine.symptombusinessMolecular Genetics & Genomic Medicine
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Development and Psychometric Properties of the Detection of Sexual Abuse Risk Screening Scale (DSARss).

2019

People with intellectual disability (ID) are more vulnerable to being victims of sexual abuse (SA) because, in most cases, they are not able to detect the warning signs that abuse could occur. However, there is a lack of appropriate assessment tools to determine their vulnerability. To address this limitation, the current study tests the psychometric properties of the Detection of Sexual Abuse Risk Screening Scale (DSARss), a new scale developed to assess the ability of individuals with mild or moderate ID to detect the risk of SA. In all, 246 individuals with mild or moderate ID (55.3% males) completed the DSARss, along with other scales assessing related dimensions (e.g., psychopathologi…

AdultMale030506 rehabilitationPsychometricsVulnerabilitysexual abusepsychometric propertiesSeverity of Illness Index03 medical and health sciencesDisability EvaluationIntellectual DisabilitySurveys and QuestionnairesIntellectual disabilitymedicineHumans0501 psychology and cognitive sciencesGeneral PsychologyCrime Victims05 social sciencesSex Offensesrisk assessmentReproducibility of ResultsMiddle Agedmedicine.diseaseExploratory factor analysisPsychiatry and Mental healthRisk screeningSexual abuseintellectual disabilityScale (social sciences)Female0305 other medical scienceRisk assessmentPsychology050104 developmental & child psychologyClinical psychologyPsychopathologySexual abuse : a journal of research and treatment
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Measuring deterioration in international classification of functioning domains of people with multiple sclerosis who are ambulatory.

2007

Background and PurposeMeasures to detect important effects related to physical therapy interventions must be able to detect an important change. The purpose of this study was to select the most responsive physical functioning measures for multiple sclerosis (MS) using the International Classification of Functioning, Disability and Health (ICF) as a framework.SubjectsThe participants were 120 people with MS who were ambulatory from a population-based sample.MethodsPhysical functioning was assessed by quantitative clinical measures of activities (n=5) and body functions (n=7) and by self-reported performance in self-care, mobility, and domestic life domains in the activities and participation…

AdultMale030506 rehabilitationmedicine.medical_specialtyActivities of daily livingMultiple SclerosisPopulationPsychological interventionPhysical Therapy Sports Therapy and RehabilitationStatistics Nonparametric03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationInternational Classification of Functioning Disability and HealthSurveys and QuestionnairesActivities of Daily LivingmedicineHumansDisabled Persons10. No inequalityeducationAgededucation.field_of_studyExpanded Disability Status ScaleReceiver operating characteristicMiddle AgedTest (assessment)Self CareROC CurveAmbulatoryPhysical therapyFemale0305 other medical sciencePsychology030217 neurology & neurosurgeryPhysical therapy
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The Relevance of Dual Tasking for Improving Trunk Muscle Endurance After Back Surgery

2021

Abstract Objective To determine the effect of dual tasking on trunk muscle endurance in patients after lumbar diskectomy. Design Cross-sectional study. Setting Rehabilitation hospital setting. Participants Individuals (N=14) undergoing primary lumbar diskectomy. Intervention Using a randomized design on 2 separate days, muscle endurance was evaluated during prone bridging and Biering-Sorensen tests. Each test was randomly performed under 2 cognitive conditions: single task without cognitive condition and self-regulated dual task (ie, mathematical task). Main Outcome Measures The primary outcomes were time to failure and pain assessed by the visual analog scale from 0 to 100 mm. The secondar…

AdultMale030506 rehabilitationmedicine.medical_specialtyVisual analogue scalemedicine.medical_treatmentPhysical Therapy Sports Therapy and RehabilitationDisability EvaluationYoung Adult03 medical and health sciences0302 clinical medicineLumbarHumansMedicinePain MeasurementMuscle WeaknessRehabilitationMuscle fatiguebusiness.industryMinimal clinically important differenceRehabilitationTorsoRepeated measures designMiddle AgedLow back painExercise TherapyOswestry Disability IndexCross-Sectional StudiesPhysical EndurancePhysical therapyFemalemedicine.symptom0305 other medical sciencebusinessLow Back Pain030217 neurology & neurosurgeryDiskectomyArchives of Physical Medicine and Rehabilitation
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Effects of a vestibular physiotherapy protocol on adults with intellectual disability in the prevention of falls: A multi-centre clinical trial

2018

Background Balance alterations are one of the main problems in people with intellectual disabilities (ID), increasing their risk of falls and impacting their life. Aims To describe a vestibular rehabilitation programme (VRP) and evaluate its effects on the ability to maintain balance and risk of suffering a fall. Methods Forty-seven adults with mild to moderate ID were randomly assigned to two groups: a control group (CG, N = 24), which performed a general physical exercise only, and an experimental group (EG, N = 23) which also completed a VRP. The variables, used pre- and post-training and 1 month after the intervention, were as follows: Center of Pressure Displacement, Berg Scale, Timed …

AdultMale030506 rehabilitationmedicine.medical_specialtymedicine.medical_treatmentPoison controlPhysical exerciseTimed Up and Go testEducationlaw.invention03 medical and health sciencesDouble-Blind MethodOccupational TherapyRandomized controlled triallawIntellectual DisabilityOutcome Assessment Health CareInjury preventionIntellectual disabilityDevelopmental and Educational PsychologymedicineHumans0501 psychology and cognitive sciencesPostural BalancePsychomotor learningRehabilitationbusiness.industry05 social sciencesReflex Vestibulo-OcularMiddle Agedmedicine.diseaseExercise TherapySpainPhysical therapyAccidental FallsFemaleVestibule Labyrinth0305 other medical sciencebusiness050104 developmental & child psychologyJournal of Applied Research in Intellectual Disabilities
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Devil in disguise : does drinking lead to a disability pension?

2016

Abstract Objectives To examine whether alcohol consumption in adulthood is related to the incidence of receiving a disability pension later in life. Methods Twin data for Finnish men and women born before 1958 were matched to register-based individual information on disability pensions. Twin differences were used to eliminate both shared environmental and genetic factors. The quantity of alcohol consumption was measured as the weekly average consumption using self-reported data from three surveys (1975, 1981 and 1990). The disability pension data were evaluated from 1990–2004. Results The models that account for shared environmental and genetic factors reveal that heavy drinkers are signifi…

AdultMaleAdolescentAlcohol DrinkingEpidemiologyalcohol consumptionPoison controlSuicide preventionAutoantigensOccupational safety and health03 medical and health sciencesPensionsYoung Adult0302 clinical medicineco-twin control0502 economics and businessInjury preventionMedicineHumansDisabled Persons030212 general & internal medicine050207 economicshealth care economics and organizationsFinlanddisability pensionConsumption (economics)ta511business.industryIncidence (epidemiology)Incidence05 social sciencesPublic Health Environmental and Occupational HealthHuman factors and ergonomicsta3142twinsMiddle AgedDisability pensionkaksosetAlcoholismFemalebusinesshuman activitiesDemographyPreventive Medicine
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Validation of the Spanish version of the Franciscan Hospital for Children Oral Health-Related Quality of Life questionnaire.

2018

Background The Franciscan Hospital for Children Oral Health-Related Quality of Life questionnaire (FHC-OHRQOL-Q) is an instrument designed specifically for parents and caregivers of patients with special needs that has not yet been applied in Spain. The aim of this study was to adapt it to Spanish and evaluate its reliability and validity in patients with intellectual disability (ID) treated under general anesthesia. Material and Methods The study was conducted in two different stages: a) cross-cultural adaptation of the original questionnaire, and b) cross-sectional study on 100 parents and caregivers who completed the piloted FHC-OHRQOL-Q. The patients were examined according to the WHO m…

AdultMaleAdolescentCross-sectional studyOral HealthAnesthesia General03 medical and health sciencesYoung Adult0302 clinical medicineCronbach's alphaQuality of lifeIntellectual DisabilitySurveys and QuestionnairesIntellectual disabilityCriterion validityContent validitymedicineHumansTranslations030212 general & internal medicineChildGeneral DentistryAgedResponse rate (survey)Cultural Characteristicsbusiness.industryDental Care for DisabledResearchDiscriminant validity030206 dentistryMiddle AgedMedically compromised patients in Dentistrymedicine.disease:CIENCIAS MÉDICAS [UNESCO]Hospitals PediatricCross-Sectional StudiesOtorhinolaryngologyChild PreschoolUNESCO::CIENCIAS MÉDICASQuality of LifeSurgeryFemalebusinessClinical psychology
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