Search results for " Senso"

showing 10 items of 1766 documents

Phenotype and natural history of inherited neuropathies caused byHSJ1c.352+1G>A mutation

2015

Mutations in the HSJ1 ( Heat-Shock Protein J1 ) gene, also called DNAJB2 (DnaJ (Hsp40) homologue, subfamily B, member 2), have been recently described as a cause of hereditary neuropathies. The HSJ1 c.352+1G>A mutation in homozygote state has been reported as the causative mutation in a single family with autosomal recessive distal hereditary motor neuropathy (dHMN).1 Since then, two other families with different HSJ1 mutations have been described: one with a dHMN phenotype and the other with a Charcot-Marie-Tooth disease type 2 (CMT2) phenotype.2 We identified the HSJ1 c.352+1G>A mutation in 10 patients who underwent long-lasting follow-up. We describe their phenotype and clinical evolutio…

AdultMale0301 basic medicineNeural ConductionCell Cycle ProteinsNeurological examinationDisease03 medical and health sciencessymbols.namesake0302 clinical medicineCharcot-Marie-Tooth DiseasemedicineHumansGeneHeat-Shock ProteinsExome sequencingAdaptor Proteins Signal TransducingGenetic testingGeneticsSanger sequencingmedicine.diagnostic_testbusiness.industryNuclear ProteinsMiddle AgedPhenotypePsychiatry and Mental healthPhenotype030104 developmental biologySpainMutationMutation (genetic algorithm)symbolsFemaleSurgeryNeurology (clinical)Hereditary Sensory and Motor Neuropathybusiness030217 neurology & neurosurgeryJournal of Neurology, Neurosurgery & Psychiatry
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Effectiveness of Mirror Therapy for Subacute Stroke in Relation to Chosen Factors.

2016

Purpose The aim of this study was to determine the effectiveness of mirror therapy (MT) combined with comprehensive treatment and to investigate the possible relationships of functional state. Design Prospective, controlled trial of 60 stroke inpatients. Methods The Functional Index "Repty" (FIR) was an outcome measure to assess changes of independence in daily activities. The Frenchay Arm Test (FAT) and Motor Status Score were outcome measures to assess changes in hand function. Findings The analysis of pre- and posttest data indicated a significant improvement in hand function ([INCREMENT]FAT in the Mirror group p = .035, N = 30). Age factor indicated a significant change in relation to F…

AdultMale030506 rehabilitationmedicine.medical_specialtyActivities of daily livingSubacute strokePhysical Therapy Sports Therapy and RehabilitationRehabilitation Nursinglaw.invention03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationRandomized controlled triallawFeedback SensoryActivities of Daily LivingmedicineHumansClinical significanceProspective StudiesProspective cohort studyStrokeolder adultsGeneral NursingPhysical Therapy ModalitiesParesisAgedRehabilitationGeneral MedicineMiddle Agedmedicine.diseasemobilityParesisPatient Outcome AssessmentStrokeMirror therapyPhysical therapyFemalemedicine.symptom0305 other medical sciencePsychology030217 neurology & neurosurgeryRehabilitation nursing : the official journal of the Association of Rehabilitation Nurses
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''Sex-related Trends In Participation and Performance In the 'swiss Bike Masters' From 1994-2012''

2013

Gloor, Roman Urs | Knechtle, Beat | Knechtle, Patrizia | Ruest, Christoph Alexander | Haupt, Samuel | Rosemann, Thomas | Lepers, Romuald; International audience; ''General participation in contests such as ultra-marathons and ultra-triathlons has increased considerably over the past 30 years, especially among women. This study investigated performance trends in the Swiss Bike Masters, one of the first and most prestigious mountain bike, ultra-endurance races in its class, with comparisons of participation and performance trends to similar races. The development of performance in the Swiss Bike Masters held between 1994 and 2012 was investigated by analysing the number of finishers, their ag…

AdultMale11035 Institute of General PracticeCompetitive BehaviorTime FactorsSTATES''Adolescent''GENDER-DIFFERENCESExperimental and Cognitive Psychology610 Medicine & healthAthletic Performance03 medical and health sciencesYoung Adult2809 Sensory Systems0302 clinical medicineAltitudeSex FactorsSex factorsHumans030212 general & internal medicineAgedGENDER-DIFFERENCESbiologyAthletes3205 Experimental and Cognitive Psychology[SCCO.NEUR]Cognitive science/NeuroscienceAge FactorsWOMENSex relatedMOTIVATION030229 sport sciencesMiddle Agedbiology.organism_classificationSensory SystemsBicyclingGeographySTATES[ SCCO.NEUR ] Cognitive science/NeuroscienceFemaleINJURIESCyclingDemography
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Mirror Visual Feedback Training Improves Intermanual Transfer in a Sport-Specific Task: A Comparison between Different Skill Levels

2016

Mirror training therapy is a promising tool to initiate neural plasticity and facilitate the recovery process of motor skills after diseases such as stroke or hemiparesis by improving the intermanual transfer of fine motor skills in healthy people as well as in patients. This study evaluated whether these augmented performance improvements by mirror visual feedback (MVF) could be used for learning a sport-specific skill and if the effects are modulated by skill level. A sample of 39 young, healthy, and experienced basketball and handball players and 41 novices performed a stationary basketball dribble task at a mirror box in a standing position and received either MVF or direct feedback. Af…

AdultMaleArticle SubjectTransfer PsychologyeducationBasketballlcsh:RC321-571Young AdultFeedback SensoryMotor Skills150 PsychologieVisual PerceptionHumansFemale150 Psychologylcsh:Neurosciences. Biological psychiatry. NeuropsychiatryPhotic StimulationPsychomotor PerformanceResearch ArticleNeural Plasticity
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The Effect of Adaptive Nonlinear Frequency Compression on Phoneme Perception

2017

Purpose This study implemented a fitting method, developed for use with frequency lowering hearing aids, across multiple testing sites, participants, and hearing aid conditions to evaluate speech perception with a novel type of frequency lowering. Method A total of 8 participants, including children and young adults, participated in real-world hearing aid trials. A blinded crossover design, including posttrial withdrawal testing, was used to assess aided phoneme perception. The hearing aid conditions included adaptive nonlinear frequency compression (NFC), static NFC, and conventional processing. Results Enabling either adaptive NFC or static NFC improved group-level detection and recognit…

AdultMaleAuditory perceptionHearing aidmedicine.medical_specialtyAdolescentComputer scienceHearing lossHearing Loss SensorineuralSpeech recognitionmedia_common.quotation_subjectmedicine.medical_treatmentCommunication Sciences and DisordersAudiology01 natural sciencesFrequency compressionYoung Adult03 medical and health sciencesSpeech and HearingHearing Aids0302 clinical medicinePhoneticsProsthesis FittingPerception0103 physical sciencesotorhinolaryngologic diseasesmedicineHumansChildHearing Loss High-Frequency030223 otorhinolaryngology010301 acousticsmedia_commonCross-Over StudiesPhoneticsNonlinear systemNonlinear DynamicsMultiple comparisons problemAuditory PerceptionFemalemedicine.symptomSoftwareAmerican Journal of Audiology
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Path Following in Non-Visual Conditions.

2018

Path-following tasks have been investigated mostly under visual conditions, that is when subjects are able to see both the path and the tool, or limb, used for navigation. Moreover, only basic path shapes are usually adopted. In the present experiment, participants must rely exclusively on continuous, non-speech, and ecological auditory and vibrotactile cues to follow a path on a flat surface. Two different, asymmetric path shapes were tested. Participants navigated by moving their index finger over a surface sensing position and force. Results show that the different non-visual feedback modes did not affect the task's accuracy, yet they affected its speed, with vibrotactile feedback causin…

AdultMaleComputer scienceInformationSystems_INFORMATIONINTERFACESANDPRESENTATION(e.g.HCI)Path following02 engineering and technology050105 experimental psychologyTask (project management)Haptic InterfacesPosition (vector)Feedback SensoryPhysical Stimulation0202 electrical engineering electronic engineering information engineeringmedicineHumans0501 psychology and cognitive sciencesComputer visionHuman computer interaction User interfaces Audio user interfaces Haptic interfacesAudio User InterfacesSettore ING-INF/05 - Sistemi Di Elaborazione Delle InformazioniSettore INF/01 - Informaticabusiness.industry05 social sciences020207 software engineeringIndex fingerHuman Computer InteractionComputer Science ApplicationsVisualizationHuman-Computer Interactionmedicine.anatomical_structureAcoustic StimulationTouch PerceptionPath (graph theory)Task analysisAuditory PerceptionFemaleArtificial intelligenceCuesbusinessPsychomotor PerformanceGestureUser InterfacesSpatial NavigationIEEE transactions on haptics
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Precision of a commercial hartmann-shack aberrometer: limits of total wavefront laser vision correction.

2012

Purpose To assess the intrasession and intersession precision of higher-order aberrations (HOAs) measured using a commercial Hartmann-Shack wavefront sensor (Zywave; Bausch & Lomb) in refractive surgery candidates. Design Prospective, experimental study of a device. Methods To analyze intrasession repeatability, 1 experienced examiner measured 30 healthy eyes 5 times successively. To study intersession reproducibility, the same clinician obtained measurements from another 30 eyes in 2 consecutive sessions at the same time of day 1 week apart. Results For intrasession repeatability, excellent intraclass correlation coefficients (ICCs) were obtained for total ocular aberrations, total HOAs, a…

AdultMaleCorneal Wavefront AberrationIntraclass correlationZernike polynomialsmedicine.medical_treatmentRefraction Ocularsymbols.namesakeYoung AdultOpticsRefractive surgeryAberrometrymedicineHumansProspective StudiesMathematicsWavefrontObserver VariationReproducibilitybusiness.industryAberrometryReproducibility of ResultsRepeatabilityWavefront sensorMiddle AgedRefractive ErrorsOphthalmologysymbolsOptometryFemalebusinessAmerican journal of ophthalmology
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The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease

2015

Background and purpose A three-generation family affected by axonal Charcot−Marie−Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype. Methods The clinical, nerve conduction studies and muscle magnetic resonance images of the patients were reviewed. A whole exome sequencing was performed and the changes were investigated by genetic studies, in silico analysis and luciferase reporter assays. Results A novel c.1226G>A change (p.R409Q) in the EGR2 gene was identified. Patients presented with a typical, late-onset axonal CMT phenotype with variable severity that was confirmed in the ancillary tests. The in silico studies sho…

AdultMaleEarly Growth Response Protein 2In silicomedicine.disease_causeCharcot-Marie-Tooth diseaseSeverity of Illness Indexhereditary motor sensory neuropathywhole exome sequencingYoung AdultCharcot-Marie-Tooth DiseasemedicineEGR2 geneHumansExomeeducationGeneExomeExome sequencingEarly Growth Response Protein 2Genetic testingAgedGeneticsAged 80 and overeducation.field_of_studyMutationmedicine.diagnostic_testbusiness.industryMiddle AgedPhenotypeAxonsPedigreePhenotypeNeurologyMutationFemaleNeurology (clinical)business
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Arrival-time judgments on multiple-lane streets: the failure to ignore irrelevant traffic

2014

How do road users decide whether or not they have enough time to cross a multiple-lane street with multiple approaching vehicles? Temporal judgments have been investigated for single cars approaching an intersection; however, close to nothing is known about how street crossing decisions are being made when several vehicles are simultaneously approaching in two adjacent lanes. This task is relatively common in urban environments. We report two simulator experiments in which drivers had to judge whether it would be safe to initiate street crossing in such cases. Matching traffic gaps (i.e., the temporal separation between two consecutive vehicles) were presented either with cars approaching o…

AdultMaleEngineeringMatching (statistics)Automobile Drivingmedia_common.quotation_subjectSeparation (aeronautics)Decision MakingCARREFOURPoison controlHuman Factors and Ergonomics050105 experimental psychologyTask (project management)Transport engineering03 medical and health sciencesJudgment0302 clinical medicineRisk-TakingPerceptionOrientation11. SustainabilityHumans0501 psychology and cognitive sciencesAttentionComputer SimulationSafety Risk Reliability and Qualitymedia_common[SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behaviorbusiness.industry05 social sciencesPERCEPTION SENSORIELLEPublic Health Environmental and Occupational HealthTime perceptionSightTime PerceptionEnvironment DesignFemaleProbability LearningSafetyTRAVERSEE DE LA RUEbusiness030217 neurology & neurosurgeryIntersection (aeronautics)
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A new method to calculate external mechanical work using force-platform data in ecological situations in humans: Application to Parkinson's disease

2016

Abstract Background and aim To accurately quantify the cost of physical activity and to evaluate the different components of energy expenditure in humans, it is necessary to evaluate external mechanical work ( W EXT ). Large platform systems surpass other currently used techniques. Here, we describe a calculation method for force-platforms to calculate long-term W EXT . Methods Each force-platform (2.46 × 1.60 m and 3.80 × 2.48 m) rests on 4 piezoelectric sensors. During long periods of recording, a drift in the speed of displacement of the center of mass (necessary to calculate W EXT ) is generated. To suppress this drift, wavelet decomposition is used to low-pass filter the source signal.…

AdultMaleExternal mechanical workPiezoelectric sensorComputer scienceParkinson's diseaseBiophysicsMédecine humaine et pathologieModels BiologicalSignalDisplacement (vector)Human physical activity03 medical and health sciences0302 clinical medicine[SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]HumansOrthopedics and Sports MedicineForce platformPhysiologieSimulationenergy expenditure;external mechanical work;human physical activity;parkinson's disease;work efficiencySignal processing[ SDV.MHEP.PHY ] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO][SCCO.NEUR]Cognitive science/NeuroscienceRehabilitationWork (physics)PendulumParkinson DiseaseWork efficiency030229 sport sciencesFilter (signal processing)Biomechanical PhenomenaCase-Control Studiesphysiology[ SCCO.NEUR ] Cognitive science/NeuroscienceExercise TestHuman health and pathologyEnergy expenditureEnergy Metabolism030217 neurology & neurosurgery
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