Search results for "nema"

showing 10 items of 1972 documents

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

1999

Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other. There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both actin and myosin. Inherited diseases in humans have been associated with defects in cardiac actin (dilated cardiomyopathy and hypertrophic cardiomyopathy), cardiac myosin (hypertrophic cardiomyopathy) and non-muscle myosin (deafness). Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess o…

AdultMalemedicine.medical_specialtyMyofilamentAdolescentDNA Mutational AnalysisMolecular Sequence Datamacromolecular substancesBiologyMyopathies NemalineTPM203 medical and health sciences0302 clinical medicineNemaline myopathyMuscular DiseasesInternal medicineMyosinGeneticsmedicineHumansPoint MutationAmino Acid SequenceChildMuscle SkeletalPolymorphism Single-Stranded ConformationalActin030304 developmental biologyFamily Health0303 health sciencesPolymorphism GeneticBase SequenceSequence Homology Amino AcidInfantSkeletal muscleDNASequence Analysis DNAmedicine.diseaseCongenital myopathyActins3. Good healthEndocrinologymedicine.anatomical_structureAmino Acid SubstitutionChild PreschoolMutationFemaleMYH7030217 neurology & neurosurgery
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Grasp with hand and mouth: a kinematic study on healthy subjects

2001

Neurons involved in grasp preparation with hand and mouth were previously recorded in the premotor cortex of monkey. The aim of the present kinematic study was to determine whether a unique planning underlies the act of grasping with hand and mouth in humans as well. In a set of four experiments, healthy subjects reached and grasped with the hand an object of different size while opening the mouth ( experiments 1 and 3), or extending the other forearm ( experiment 4), or the fingers of the other hand ( experiment 5). In a subsequent set of three experiments, subjects grasped an object of different size with the mouth, while opening the fingers of the right hand ( experiments 6–8). The init…

AdultMalemedicine.medical_specialtyPhysiologyMovementKinematicsMotor NeuronFunctional LateralityBiomechanical PhenomenaPremotor cortexFingersPhysical medicine and rehabilitationmedicineFingerHumansSpeechMotor NeuronsCommunicationMouthHand Strengthbusiness.industryGeneral NeuroscienceGRASPHealthy subjectsMotor CortexBiomechanical PhenomenaFrontal Lobebody regionsmedicine.anatomical_structureFemalePsychologybusinesspsychological phenomena and processesAutomatic word reading; human kinematics; reaching-grasping; Broca's areaHuman
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3D characterisation of the dynamics of foot joints of adults during walking. Gait pattern identification

2017

A detailed description of the kinematics and kinetics of the ankle, midtarsal and metatarsophalangeal joints of the feet of a healthy adult male population during barefoot walking is provided. Plots of the angles and moments in each plane during the stance phase are reported, along with the mean and standard deviation values of 87 different parameters that characterise the 3D dynamics of the foot joints. These parameters were used to check for similarities between subjects through a hierarchical analysis that allowed three different gait patterns to be identified, most of the differences corresponding to the frontal and transverse planes.

AdultMalemedicine.medical_specialtyPopulationBiomedical EngineeringMetatarsophalangeal jointsBioengineeringKinematicsStandard deviation03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationImaging Three-DimensionalFiducial MarkersFoot JointsmedicineCluster AnalysisHumansgait patternseducationGaitMathematicseducation.field_of_studyDynamics (mechanics)030229 sport sciencesGeneral MedicineAnatomydynamicsfoot jointsGaitComputer Science ApplicationsBiomechanical PhenomenaHuman-Computer InteractionTransverse planemedicine.anatomical_structurekinematicskineticsAnkle030217 neurology & neurosurgery
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Increased proportion of comorbidities but no deterioration of sexual quality of life during a 5-year follow-up in patients with axial spondyloarthrit…

2021

Abstract Objective To explore patient perception of sexual quality of life (SQOL), an important category of QOL, in male and female patients with axial SpA (axSpA) after a 5 year follow-up. Methods A broad spectrum of demographic, disease-related, treatment and SQOL data was collected at baseline and at the 5 year follow-up. SQOL was assessed by the SQOL-Female (SQOL-F) questionnaire. For statistical analysis, McNemar’s tests, paired t-tests and multiple regression analyses were applied. Results A total of 245 axSpA patients (168 men and 77 women) from outpatient clinics were examined (mean age 46 years, mean disease duration 11.9 years at baseline). Compared with baseline, the patients had…

AdultMalemedicine.medical_specialtySexual BehaviorDiseaseComorbidityMcNemar's testRheumatologyQuality of lifeInternal medicineSurveys and QuestionnairesSpondylarthritismedicineOutpatient clinicHumansPharmacology (medical)Axial spondyloarthritisAnkylosing spondylitisBiological Productsbusiness.industryEnthesitisMiddle Agedmedicine.diseaseComorbidityAntirheumatic AgentsQuality of LifeFemalemedicine.symptombusinessFollow-Up StudiesRheumatology (Oxford, England)
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Daily changes of individual gait patterns identified by means of support vector machines.

2016

Despite the common knowledge about the individual character of human gait patterns and about their non-repeatability, little is known about their stability, their interactions and their changes over time. Variations of gait patterns are typically described as random deviations around a stable mean curve derived from groups, which appear due to noise or experimental insufficiencies. The purpose of this study is to examine the nature of intrinsic inter-session variability in more detail by proving separable characteristics of gait patterns between individuals as well as within individuals in repeated measurement sessions. Eight healthy subjects performed 15 gait trials at a self-selected spee…

AdultMalemedicine.medical_specialtySupport Vector MachineMovementBiophysicsPoison controlKinematicsStability (probability)Models Biological03 medical and health sciences0302 clinical medicineGait (human)Physical medicine and rehabilitationRange (statistics)medicineHumansOrthopedics and Sports MedicineMultiple correlationGround reaction forceGaitMathematicsRehabilitation030229 sport sciencesRepeatabilityHealthy VolunteersBiomechanical PhenomenaCircadian RhythmPhysical therapyFemalehuman activities030217 neurology & neurosurgeryGaitposture
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FUNCTIONAL EFFECT OF SHORT-TERM IMMOBILIZATION: KINEMATIC CHANGES AND RECOVERY ON REACHING-TO-GRASP

2012

Abstract Although previous investigations agree in showing significant cortical modifications related to short-term limb immobilization, little is known about the functional changes induced by non-use. To address this issue, we studied the kinematic effect of 10 h of hand immobilization. In order to prevent any movement, right handed healthy participants wore on their dominant hand a soft bandage. They were requested to perform the same reaching-to-grasping task immediately after immobilization, 1 day before (baseline 1) and in other two following days without non-use (baseline 2 and baseline 3). While no differences were found among baseline conditions, an increase of the total duration of…

AdultMalemedicine.medical_specialtyTime FactorsPlasticityMovementSensory systemKinematicsReach050105 experimental psychologyTask (project management)03 medical and health sciencesImmobilization0302 clinical medicinePhysical medicine and rehabilitationmedicineHumans0501 psychology and cognitive sciencesBaseline (configuration management)Analysis of VarianceCommunicationGraspHand Strengthbusiness.industryGeneral Neuroscience05 social sciencesGrasp; Immobilization; Kinematic; Plasticity; Reach;HandKinematicAnticipationBiomechanical PhenomenaTerm (time)FemaleAnalysis of variancebusinessPsychologyPsychomotor Performance030217 neurology & neurosurgeryBandage
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Diagnosis and surgical management of colovesical fistulas due to sigmoid diverticulitis.

2009

Diverticular disease of the colon is the most frequent cause of colovesical fistulas. In this study we evaluated the accuracy of different diagnostic procedures for the detection of colovesical fistula and the clinical outcome in a series of 49 patients who underwent surgery for colovesical fistula due to sigmoid diverticulitis.Between 1982 and 2007, 42 men and 7 women underwent surgery for colovesical fistula due to sigmoid diverticulitis. Preoperative diagnostic procedures included the poppy seed test, abdominopelvic computerized tomography, magnetic resonance tomography of the abdomen, cystogram, retrograde colonic enema, urethrocystoscopy and colonoscopy.All patients had urinary tract i…

AdultMalemedicine.medical_specialtyUrologymedicine.medical_treatmentDiverticulitis ColonicFecaluriamedicineIntestinal FistulaDysuriaHumansAgedAged 80 and overPneumaturiaSigmoid DiseasesPoppy seed testbusiness.industryEnemaDiverticulitisMiddle Agedmedicine.diseaseSurgerymedicine.anatomical_structureDiverticular diseaseAbdomenFemaleRadiologymedicine.symptombusinessThe Journal of urology
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Kinematics and electromyographic activity of horse riders during various cross-country jumps in equestrian

2019

International audience; The objective of this study was to identify the key biomechanical patterns (functional muscles and kinematics) of amateur horse riders during various cross-country jumps in equestrian. Eleven riders first performed a control condition that corresponded to jumps over three different obstacles (log wall, brush and tree trunk) before jumping over the same three obstacles in a cross-country course. 3D Kinematics and electromyographic (EMG) activity was synchronously collected which included seven muscles of the riders back, lower and upper limbs. Maximum voluntary isometric strength of knee extensors was also measured before and immediately after the race to investigate …

AdultMalemedicine.medical_specialtycontractileAdolescentKnee Jointneuromuscular fatigueMovement0206 medical engineeringwarmPhysical Therapy Sports Therapy and Rehabilitation02 engineering and technologyKinematicsIsometric exercisemuscle activation intervalsmedicine.disease_cause03 medical and health sciencesYoung AdultMotion0302 clinical medicineJumpingLower bodyPhysical medicine and rehabilitationhorse ridersmedicineAnimalsHumansOrthopedics and Sports MedicineHorsesMuscle SkeletalCross countryKnee extensorsElectromyographyHorse030229 sport sciences020601 biomedical engineeringBiomechanical PhenomenaMuscle FatigueFemaleactivationfatigue[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Psychologyperformance3d kinematicsSports
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The effect of visual focus on spatio-temporal and kinematic parameters of treadmill running

2017

The characteristics of a treadmill and the environment where it is based could influence the user’s gaze and have an effect on their running kinematics and lower limb impacts. The aim of this study was to identify the effect of visual focus on spatio-temporal parameters and lower limb kinematics during treadmill running. Twenty six experienced runners ran at 3.33 m s−1 on a treadmill under two visual conditions, either looking ahead at a wall or looking down at the treadmill visual display. Spatio-temporal parameters, impact accelerations of the head and tibia, and knee and ankle kinematics were measured for the final 15 s of a 90 s bout of running under each condition. At the end of the te…

AdultMalemedicine.medical_specialtygenetic structuresAccelerationBiophysicsSTRIDEFixation OcularKinematicsRunningYoung Adult03 medical and health sciences0302 clinical medicinemedicineHumansOrthopedics and Sports MedicineTibiaTreadmillGaitRehabilitationBiomechanics030229 sport sciencesGazeGaitBiomechanical Phenomenamedicine.anatomical_structureLower ExtremityTime and Motion StudiesExercise TestPhysical therapyAnklePsychologyhuman activities030217 neurology & neurosurgeryGait & Posture
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Forty-slice MDCT enteroclysis: evaluation after oral administration of isotonic solution in Crohn's disease.

2007

Objective. The aim of this study was to evaluate the accuracy of multidetector computed tomography (MDCT) enteroclysis after oral hyperhydration with isotonic solution in detecting bowel wall alterations in patients with Crohn’s disease. Materials and methods. Twenty-eight patients with a diagnosis of Crohn’s disease established by ileocolonoscopy and histology were enrolled in the study; 15 patients with negative ileocolonoscopy served as controls. In all cases, MDCT enteroclysis was performed after oral administration of 2,000 ml of isotonic solution and intravenous administration of N-butylscopolamine. Axial, isotropic multiplanar and volume-rendered reconstructions were used to evaluate…

AdultMalemedicine.medical_specialtymedicine.medical_treatmentAdministration OralContrast MediaIntestino tenueSensitivity and SpecificityPolyethylene GlycolsCrohn DiseaseOral administrationPatologie gastrointestinaliIntestine SmallMedicineIntubationHumansRadiology Nuclear Medicine and imagingNeuroradiologyTC multidetettoreCrohn's diseasemedicine.diagnostic_testbusiness.industryCatharticsMultidetector CTUltrasoundInterventional radiologyGeneral MedicineEnemamedicine.diseaseGastrointestinal diseaseSmall boweldigestive system diseasesSpiral computed tomographyIopamidolFemaleRadiologyIsotonic SolutionsbusinessTomography X-Ray ComputedLa Radiologia medica
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