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https://www.readbyqxmd.com/read/28576131/analysis-of-31-year-old-patient-with-syngap1-gene-defect-points-to-importance-of-variants-in-broader-splice-regions-and-reveals-developmental-trajectory-of-syngap1-associated-phenotype-case-report
#1
Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
BACKGROUND: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. The definition of the phenotype range and course of rare genetic conditions requires long-term clinical follow-up of patients. CASE PRESENTATION: We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy gait and constipation...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28549648/characterization-of-long-term-gait-deficits-in-mouse-dmcao-using-the-catwalk-system
#2
E Caballero-Garrido, J C Pena-Philippides, Z Galochkina, E Erhardt, T Roitbak
Evaluation of functional outcome is widely used across species to assess the recovery process following various pathological conditions, including spinal cord injury, musculo-skeletal injury, mithochondrial disease, neuropathic cancer, Huntington's disease, chronic pain, cortical lesion, and olivocerebellar degeneration among others. The Stroke Therapy Academic Industry Roundtable (STAIR) recommends multiple endpoints for behavioral studies in pre-clinical stroke research, to demonstrate their clinical relevance...
May 23, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28535762/gait-initiation-and-termination-strategies-in-patients-with-prader-willi-syndrome
#3
Veronica Cimolin, Nicola Cau, Manuela Galli, Cristina Santovito, Graziano Grugni, Paolo Capodaglio
BACKGROUND: Gait Initiation (GI) is a functional task representing one of the first voluntary destabilizing behaviours observed in the development of a locomotor pattern as the whole body centre of mass transitions from a large to a small base of support. Conversely, Gait Termination (GT) consists in the transition from walking to standing which, in everyday life, is a very common movement. Compared to normal walking, it requires higher control of postural stability. For a safe GT, the forward movement of the body has to be slowed down to achieve a stable upright position...
May 23, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28530503/comparison-of-self-selected-walking-speeds-and-walking-speed-variability-when-data-are-collected-during-repeated-discrete-trials-and-during-continuous-walking
#4
Marcus J Brown, Laura A Hutchinson, Michael J Rainbow, Kevin J Deluzio, Alan R De Asha
A typical gait analysis data collection consists of a series of discrete trials, where a participant initiates gait, walks through a motion capture volume, and then terminates gait. This is not a normal 'everyday' gait pattern, yet measurements are considered representative of normal walking. However, walking speed, a global descriptor of gait quality that can affect joint kinematics and kinetics, may be different during discrete trials, compared to continuous walking. Therefore, the purpose of this study was to investigate the effect of continuous walking versus discrete trials on walking speed and walking speed variability...
May 22, 2017: Journal of Applied Biomechanics
https://www.readbyqxmd.com/read/28487630/analysis-of-interrelationships-among-voluntary-and-prosthetic-leg-joint-parameters-using-cyclograms
#5
Farahiyah Jasni, Nur Azah Hamzaid, Nor Elleeiana Mohd Syah, Tze Y Chung, Noor Azuan Abu Osman
The walking mechanism of a prosthetic leg user is a tightly coordinated movement of several joints and limb segments. The interaction among the voluntary and mechanical joints and segments requires particular biomechanical insight. This study aims to analyze the inter-relationship between amputees' voluntary and mechanical coupled leg joints variables using cyclograms. From this analysis, the critical gait parameters in each gait phase were determined and analyzed if they contribute to a better powered prosthetic knee control design...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28450686/serial-neurophysiological-and-neurophysiological-examinations-for-delayed-facial-nerve-palsy-in-a-patient-with-fisher-syndrome
#6
Motoyuki Umekawa, Keiko Hatano, Hideyuki Matsumoto, Takahiro Shimizu, Hideji Hashida
The patient was a 47-year-old man who presented with diplopia and gait instability with a gradual onset over the course of three days. Neurological examinations showed ophthalmoplegia, diminished tendon reflexes, and truncal ataxia. Tests for anti-GQ1b antibodies and several other antibodies to ganglioside complex were positive. We made a diagnosis of Fisher syndrome. After administration of intravenous immunoglobulin, the patient's symptoms gradually improved. However, bilateral facial palsy appeared during the recovery phase...
April 27, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28380319/the-coefficient-of-friction-in-parkinson-s-disease-gait
#7
Ana Kleiner, M Galli, M Franceschini, M F De Pandis, F Stocchi, G Albertini, Ricardo Machado Leite de Barros
This study aimed to characterize the coefficient of friction (COF) curves of patients with Parkinson's disease (PD) during barefoot gait and to evaluate the relationships between this variable and functional scales. Twenty-two subjects with PD (ON phase of levodopa) and 22 healthy subjects participated in this study. The participants walked barefoot along a pathway that went over two force plates embedded in the floor of the data collection room. The instantaneous COF was calculated as the ratio between the horizontal and vertical components of the ground reaction forces...
January 2017: Functional Neurology
https://www.readbyqxmd.com/read/28324993/dynamic-knee-muscle-co-contraction-quantified-during-walking
#8
Annachiara Strazza, Alessandro Mengarelli, Valentina Agostini, Marco Knaflitz, Laura Burattini, Sandro Fioretti, Francesco Di Nardo
The purpose of the present study was the quantification of the co-activation patterns of the knee extensor and flexor muscles during walking at self-selected speed and cadence. To this aim, the Statistical Gait Analysis, a recent methodology providing a statistical characterization of gait, was performed on surface EMG signals from Vastus Lateralis (VL) and Medial Hamstrings (MH) in 14 healthy young adult subjects. Muscular co-contraction was assessed as the overlapping period between activation intervals of agonist and antagonist muscles...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28306641/a-kinematic-symmetry-index-of-gait-pattern-between-older-adults-with-and-without-low-back-pain
#9
Paul S Sung, Pamela Danial
STUDY DESIGN: Cross-sectional study. OBJECTIVE: To investigate the symmetry index for limb support patterns in right limb dominant older adults with and without low back pain (LBP). SUMMARY OF BACKGROUND DATA: The effects of bilateral asymmetry on gait performance were reported; however, there is a lack of understanding on kinematic symmetry to assess subjects with LBP. This asymmetry might be related to increased compensatory patterns to the dominant side in subjects with LBP...
March 16, 2017: Spine
https://www.readbyqxmd.com/read/28284567/the-analysis-of-three-dimensional-ground-reaction-forces-during-gait-in-children-with-autism-spectrum-disorders
#10
Che Zawiyah Che Hasan, Rozita Jailani, Nooritawati Md Tahir, Suryani Ilias
Minimal information is known about the three-dimensional (3D) ground reaction forces (GRF) on the gait patterns of individuals with autism spectrum disorders (ASD). The purpose of this study was to investigate whether the 3D GRF components differ significantly between children with ASD and the peer controls. 15 children with ASD and 25 typically developing (TD) children had participated in the study. Two force plates were used to measure the 3D GRF data during walking. Time-series parameterization techniques were employed to extract 17 discrete features from the 3D GRF waveforms...
March 9, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28268770/evaluation-of-a-variable-resistance-orthotic-knee-joint
#11
Andrew Herbert-Copley, Edward D Lemaire, Natalie Baddour
Knee-ankle-foot orthoses (KAFOs) are full leg braces for individuals with knee extensor weakness, designed to support the person during weight bearing activities by preventing knee flexion. KAFOs typically result in an unnatural gait pattern and are primarily used for level ground walking. A novel variable resistance orthotic knee joint, the Ottawalk-Variable Speed (OWVS), was designed to address these limitations. This paper presents a pilot test to evaluate the OWVS functional performance during walking and stair descent...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28241008/variability-of-spatial-temporal-gait-parameters-and-center-of-pressure-displacements-during-gait-in-elderly-fallers-and-nonfallers-a-6-month-prospective-study
#12
Zdenek Svoboda, Lucia Bizovska, Miroslav Janura, Eliska Kubonova, Katerina Janurova, Nicolas Vuillerme
Considering that most of the falls in elderly population arise during walking, tests derived from walking performance would be desirable for comprehensive fall risk assessment. The analysis of spatial temporal parameters and the center of pressure displacement, which represents the interaction between the human body and the ground, would be beneficial. The aim of this study was to compare spatial temporal gait parameters and their variability and the variability of the center of pressure displacement between elderly fallers and nonfallers during gait at self-selected, defined and fast speeds...
2017: PloS One
https://www.readbyqxmd.com/read/28227316/dynamic-knee-muscle-co-contraction-quantified-during-walking
#13
Annachiara Strazza, Alessandro Mengarelli, Valentina Agostini, Marco Knaflitz, Laura Burattini, Sandro Fioretti, Francesco Di Nardo, Annachiara Strazza, Alessandro Mengarelli, Valentina Agostini, Marco Knaflitz, Laura Burattini, Sandro Fioretti, Francesco Di Nardo, Sandro Fioretti, Francesco Di Nardo, Annachiara Strazza, Valentina Agostini, Marco Knaflitz, Laura Burattini, Alessandro Mengarelli
The purpose of the present study was the quantification of the co-activation patterns of the knee extensor and flexor muscles during walking at self-selected speed and cadence. To this aim, the Statistical Gait Analysis, a recent methodology providing a statistical characterization of gait, was performed on surface EMG signals from Vastus Lateralis (VL) and Medial Hamstrings (MH) in 14 healthy young adult subjects. Muscular co-contraction was assessed as the overlapping period between activation intervals of agonist and antagonist muscles...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226959/evaluation-of-a-variable-resistance-orthotic-knee-joint
#14
Andrew Herbert-Copley, Edward D Lemaire, Natalie Baddour, Andrew Herbert-Copley, Edward D Lemaire, Natalie Baddour, Andrew Herbert-Copley, Natalie Baddour, Edward D Lemaire
Knee-ankle-foot orthoses (KAFOs) are full leg braces for individuals with knee extensor weakness, designed to support the person during weight bearing activities by preventing knee flexion. KAFOs typically result in an unnatural gait pattern and are primarily used for level ground walking. A novel variable resistance orthotic knee joint, the Ottawalk-Variable Speed (OWVS), was designed to address these limitations. This paper presents a pilot test to evaluate the OWVS functional performance during walking and stair descent...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28222529/progressive-motor-deficit-is-mediated-by-the-denervation-of-neuromuscular-junctions-and-axonal-degeneration-in-transgenic-mice-expressing-mutant-p301s-tau-protein
#15
Zhuoran Yin, Femke Valkenburg, Betty E Hornix, Ietje Mantingh-Otter, Xingdong Zhou, Muriel Mari, Fulvio Reggiori, Debby Van Dam, Bart J L Eggen, Peter P De Deyn, Erik Boddeke
Tauopathies include a variety of neurodegenerative diseases associated with the pathological aggregation of hyperphosphorylated tau, resulting in progressive cognitive decline and motor impairment. The underlying mechanism for motor deficits related to tauopathy is not yet fully understood. Here, we use a novel transgenic tau mouse line, Tau 58/4, with enhanced neuron-specific expression of P301S mutant tau to investigate the motor abnormalities in association with the peripheral nervous system. Using stationary beam, gait, and rotarod tests, motor deficits were found in Tau 58/4 mice already 3 months after birth, which deteriorated during aging...
February 10, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28199924/hip-ankle-coordination-during-gait-in-individuals-with-chronic-ankle-instability
#16
Sheng-Che Yen, Kevin K Chui, Marie B Corkery, Elizabeth A Allen, Caitlin M Cloonan
Individuals with chronic ankle instability (CAI) may have sensorimotor impairments that affect control at the hip in addition to the ankle. The purpose of this study was to compare hip-ankle coordination and coordination variability between individuals with CAI and healthy individuals during walking. Ten healthy subjects and 10 subjects with CAI were recruited to walk on a treadmill. Hip-ankle coordination was quantified using vector coding, and coordination variability was quantified using coefficient of correspondence...
March 2017: Gait & Posture
https://www.readbyqxmd.com/read/28167388/unplanned-gait-termination-in-individuals-with-multiple-sclerosis
#17
Kathleen L Roeing, Yaejin Moon, Jacob J Sosnoff
Despite the pervasive nature of gait impairment in multiple sclerosis (MS), there is limited information concerning the control of gait termination in individuals with MS. The purpose of this investigation was to examine unplanned gait termination with and without cognitive distractors in individuals with MS compared to healthy controls. Thirty-one individuals with MS and 14 healthy controls completed a series of unplanned gait termination tasks over a pressure sensitive walkway under distracting and non-distracting conditions...
January 30, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28103470/gender-differences-in-asymmetrical-limb-support-patterns-between-subjects-with-and-without-recurrent-low-back-pain
#18
Paul S Sung, J Tim Zipple, Pamela Danial
New insight regarding limb-dominance effects on temporal-spatial gait parameters is needed to further investigate subjects with recurrent low back pain (LBP). Although an asymmetrical gait pattern was found to reflect natural functional differences, there is a lack of information regarding gender differences on dominant limb support patterns in subjects with LBP. The purpose of this study was to investigate temporal-spatial gait parameters based on limb dominance and gender between subjects with and without LBP...
April 2017: Human Movement Science
https://www.readbyqxmd.com/read/28099115/examination-of-the-reliability-of-an-inertial-sensor-based-gait-analysis-system
#19
Katja Orlowski, Falko Eckardt, Fabian Herold, Norman Aye, Jürgen Edelmann-Nusser, Kerstin Witte
Gait analysis is an important and useful part of the daily therapeutic routine. InvestiGAIT, an inertial sensor-based system, was developed for using in different research projects with a changing number and position of sensors and because commercial systems do not capture the motion of the upper body. The current study is designed to evaluate the reliability of InvestiGAIT consisting of four off-the-shelf inertial sensors and in-house capturing and analysis software. Besides the determination of standard gait parameters, the motion of the upper body (pelvis and spine) can be investigated...
January 18, 2017: Biomedizinische Technik. Biomedical Engineering
https://www.readbyqxmd.com/read/28095359/gait-deviations-associated-with-plantar-heel-pain-a-systematic-review
#20
REVIEW
Adam Phillips, Shane McClinton
BACKGROUND: Plantar heel pain is a common foot disorder associated with significant pain and gait-related disability. The aim of this systematic review was to identify gait deviations associated with plantar heel pain. METHODS: A systematic review of articles with quantitative gait variables in individuals with plantar heel pain was conducted using the CINAHL, MEDLINE, Scopus, and Embase databases. Methodological quality was assessed using the modified Downs and Black criteria and used along with the number of studies per gait variable to determine level of evidence...
February 2017: Clinical Biomechanics
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