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https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#1
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28635875/-disturbances-of-gait-and-postural-stability-in-chronic-cerebral-ischemia
#2
N N Vakhnina, V V Zakharov
Disturbances of gait and postural stability are characteristic of the chronic progressive vascular lesion of the brain observed in moderate to severe stages of cerebrovascular disease. Disconnections between the prefrontal cortex, basal ganglia and cerebellum due to the damage of the white matter (vascular leukoencephalopathy) underlie disturbances of gait and postural stability (shorter stride length, wider gait). There are difficulties in starting with possible stoppings during the walking, waiting in front of small barriers as well as difficulties in concentration (e...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28634598/previously-unrecognized-behavioral-phenotype-in-gaucher-disease-type-3
#3
Magy Abdelwahab, Michael Potegal, Elsa G Shapiro, Igor Nestrasil
OBJECTIVE: To provide a comprehensive description of abnormal behaviors in patients with Gaucher disease type 3 (GD3) and relate these behaviors to demographic, neurodevelopmental, and neurologic characteristics. METHODS: Thirty-four Egyptian patients with GD3 (mean age of 7.9 years) were enrolled in the study. They were selected based on parent report and/or physician observation of one or more abnormal behaviors documented in 2 settings and by 2 different individuals and/or by video recording...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28634449/electromyography-data-processing-impacts-muscle-synergies-during-gait-for-unimpaired-children-and-children-with-cerebral-palsy
#4
Benjamin R Shuman, Michael H Schwartz, Katherine M Steele
Muscle synergies calculated from electromyography (EMG) data identify weighted groups of muscles activated together during functional tasks. Research has shown that fewer synergies are required to describe EMG data of individuals with neurologic impairments. When considering potential clinical applications of synergies, understanding how EMG data processing impacts results and clinical interpretation is important. The aim of this study was to evaluate how EMG signal processing impacts synergy outputs during gait...
2017: Frontiers in Computational Neuroscience
https://www.readbyqxmd.com/read/28634447/the-moving-rubber-hand-illusion-reveals-that-explicit-sense-of-agency-for-tapping-movements-is-preserved-in-functional-movement-disorders
#5
Angela Marotta, Federica Bombieri, Massimiliano Zampini, Federico Schena, Carlo Dallocchio, Mirta Fiorio, Michele Tinazzi
Functional movement disorders (FMD) are characterized by motor symptoms (e.g., tremor, gait disorder, and dystonia) that are not compatible with movement abnormalities related to a known organic cause. One key clinical feature of FMD is that motor symptoms are similar to voluntary movements but are subjectively experienced as involuntary by patients. This gap might be related to abnormal self-recognition of bodily action, which involves two main components: sense of agency and sense of body ownership. The aim of this study was to systematically investigate whether this function is altered in FMD, specifically focusing on the subjective feeling of agency, body ownership, and their interaction during normal voluntary movements...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28634343/falling-direction-can-predict-the-mechanism-of-recurrent-falls-in-advanced-parkinson-s-disease
#6
Jinyoung Youn, Yasuyuki Okuma, Minho Hwang, Dongyeop Kim, Jin Whan Cho
Falls are a common and disabling symptom in patients with Parkinson's disease (PD). For prevention, it is important to understand the pathophysiology of falls in PD patients, but the predictors for the possible mechanisms underlying such falls have not been clearly elucidated. In this prospective observational study, we investigated the implications of falling direction to predict the mechanisms of recurrent falls in PD patients. We enrolled 62 recurrent fallers with PD and divided them into two groups according to the main falling directions: 45 PD fallers who fell forward (forward fallers), and 17 PD fallers who fell in the other directions (non-forward fallers)...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28633788/fluoroscopic-and-gait-analyses-for-the-functional-performance-of%C3%A2-a%C3%A2-custom-made-total-talonavicular-replacement
#7
Claudio Belvedere, Matteo Cadossi, Antonio Mazzotti, Sandro Giannini, Alberto Leardini
The present study evaluated the restoration of joint function in a special clinical case: a professional rock climber who underwent an original total talonavicular replacement with a custom-made prosthesis after a complex articular fracture. Full body gait analysis and 3-dimensional joint kinematics using single-plane fluoroscopy were performed on the same day at the 30-month follow-up examination. Gait analysis was performed using stereophotogrammetric, dynamometric, electromyographic, and baropodometric systems...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633487/high-intensity-interval-training-hiit-improves-physical-performance-and-frailty-in-aged-mice
#8
Kenneth Ladd Seldeen, Ginger Lasky, Merced Maria Leiker, Manhui Pang, Kirkwood Ely Personius, Bruce Robert Troen
Sarcopenia and frailty are highly prevalent in older individuals, increasing the risk of disability and loss of independence. High intensity interval training (HIIT) may provide a robust intervention for both sarcopenia and frailty by achieving both strength and endurance benefits with lower time commitments than other exercise regimens. To better understand the impacts of HIIT during aging, we compared 24-month-old C57BL/6J sedentary mice with those that were administered 10-minute uphill treadmill HIIT sessions three times per week over 16 weeks...
June 17, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28633035/economy-and-endurance-in-human-evolution
#9
REVIEW
Herman Pontzer
The evolutionary pressures shaping humans' unique bipedal locomotion have been a focus of research since Darwin, but the origins of humans' economical walking gait and endurance running capabilities remain unclear. Here, I review the anatomical and physiological determinants of locomotor economy (e.g., limb length and posture) and endurance (e.g., muscle volume and fiber type) and investigate their development in the hominin fossil record. The earliest hominins were bipedal but retained ape-like features in the hind limb that would have limited their walking economy compared to living humans...
June 19, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28632239/feasibility-of-mind-body-movement-programs-for-cancer-survivors
#10
Kristine K Browning, Jennifer Kue, Felisha Lyons, Janine Overcash
PURPOSE/OBJECTIVES: To evaluate mind-body movement exercise (MBME) classes (yoga, tai chi, and Qigong) for cancer survivors. 
. DESIGN: A single-group, repeated-measures design.
. SETTING: The Ohio State University Wexner Medical Center-Arthur G. James Cancer Hospital in Columbus.
. SAMPLE: 33 adult cancer survivors, with any cancer diagnosis, participating in MBME classes.
. METHODS: The researchers sought to examine feasibility of multiple data collection time points and data collection measures; acceptability; and changes to physical, emotional, and biometric measures over time, as a result of participation in MBME classes...
July 1, 2017: Oncology Nursing Forum
https://www.readbyqxmd.com/read/28632137/electrospun-silk-polyaniline-conduits-for-functional-nerve-regeneration-in-rat-sciatic-nerve-injury-model
#11
Suradip Das, Manav Sharma, Dhiren Saharia, Kushal Sarma, Elizabeth Muir, Utpal Bora
The present study describes the fabrication of polyaniline-silk fibroin nanocomposite based nerve conduits and its subsequent implantation in a rat sciatic nerve injury model for peripheral nerve regeneration. This is the first in vivo study of polyaniline based nerve conduit describing the safety and efficacy of the conduits in treating peripheral nerve injuries. The nanocomposite was synthesised by electrospinning a mixture of silk fibroin protein and polyaniline wherein the silk nanofibers were observed to be uniformly coated with polyaniline nanoparticles...
June 20, 2017: Biomedical Materials
https://www.readbyqxmd.com/read/28632106/speed-interactive-treadmill-training-using-smartphone-based-motion-tracking-technology-improves-gait-in-stroke-patients
#12
Junyoung Lee, Kyeongjin Lee, Changho Song
This study was conducted to investigate the effects of speed-interactive treadmill training (SITT) using smartphone-based motion tracking technology on gait in stroke patients. Thirty-four chronic stroke patients were randomly divided into a SITT group (n = 18) and a standard treadmill training (control) group (n = 16). The SITT group underwent smartphone-based SSIT while the control group underwent standard treadmill training. Both groups performed the training for 35 min per session, 3 times per week, for 6 weeks...
March 2, 2017: Journal of Motor Behavior
https://www.readbyqxmd.com/read/28632105/obstacle-avoidance-increases-asymmetry-of-crossing-step-in-individuals-with-parkinson-s-disease-and-neurologically-healthy-individuals
#13
Fabio Augusto Barbieri, Lucas Simieli, Diego Orcioli-Silva, André Macari Baptista, Mayara Borkowske Pestana, Victor Spiandor Beretta, Paulo Cezar Rocha Dos Santos, Lilian Teresa Bucken Gobbi
The authors' aim was to investigate gait asymmetry of crossing step during obstacle avoidance while walking in people with Parkinson's disease (PD) under and without the effects of dopaminergic medication. Thirteen individuals with PD and 13 neurologically healthy individuals performed 5 trials of unobstructed gait and 10 trials of obstacle crossing during gait (5 trials with each leg) and spatiotemporal parameters were analyzed. Obstacle crossing increased step duration of the crossing step for the most-affected or nondominant limb compared to the crossing step with the least-affected or dominant limb...
March 2, 2017: Journal of Motor Behavior
https://www.readbyqxmd.com/read/28632055/muscle-activity-in-sprinting-a-review
#14
Róisín M Howard, Richard Conway, Andrew J Harrison
The use of electromyography (EMG) is widely recognised as a valuable tool for enhancing the understanding of performance drivers and potential injury risk in sprinting. The timings of muscle activations relative to running gait cycle phases and the technology used to obtain muscle activation data during sprinting are of particular interest to scientists and coaches. This review examined the main muscles being analysed by surface EMG (sEMG), their activations and timing, and the technologies used to gather sEMG during sprinting...
February 28, 2017: Sports Biomechanics
https://www.readbyqxmd.com/read/28631623/morphological-self-stabilization-of-locomotion-gaits-illustration-on-a-few-examples-from-bio-inspired-locomotion
#15
Christine Chevallereau, Frédéric Boyer, Mathieu Porez, Johan Mauny, Yannick Aoustin
To a large extent, robotics locomotion can be viewed as cyclic motions, named gaits. Due to the high complexity of the locomotion dynamics, to find the control laws that ensure an expected gait and its stability with respect to external perturbations, is a challenging issue for feedback control. To address this issue, a promising way is to take inspiration from animals that intensively exploit the interactions of the passive degrees of freedom of their body with their physical surroundings, to outsource the high-level exteroceptive feedback control to low-level proprioceptive ones...
June 20, 2017: Bioinspiration & Biomimetics
https://www.readbyqxmd.com/read/28631166/morphology-and-the-gradient-of-a-symmetric-potential-predict-gait-transitions-of-dogs
#16
Simon Wilshin, G Clark Haynes, Jack Porteous, Daniel Koditschek, Shai Revzen, Andrew J Spence
Gaits and gait transitions play a central role in the movement of animals. Symmetry is thought to govern the structure of the nervous system, and constrain the limb motions of quadrupeds. We quantify the symmetry of dog gaits with respect to combinations of bilateral, fore-aft, and spatio-temporal symmetry groups. We tested the ability of symmetries to model motion capture data of dogs walking, trotting and transitioning between those gaits. Fully symmetric models performed comparably to asymmetric with only a [Formula: see text] increase in the residual sum of squares and only one-quarter of the parameters...
June 19, 2017: Biological Cybernetics
https://www.readbyqxmd.com/read/28630220/beyond-cervical-lipomas-myoclonus-gait-disorder-and-multisystem-involvement-leading-to-mitochondrial-disease
#17
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m...
June 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28629941/does-patella-lowering-improve-crouch-gait-in-cerebral-palsy-comparative-retrospective-study
#18
Eric Desailly, Camille Thévenin-Lemoine, Nejib Khouri
BACKGROUND: Patellalowering aims to improve quadriceps function as a means of correcting crouch gait in patients with cerebral palsy (PC). Few studies have assessed the effects of patella lowering as a component of multilevel surgery. HYPOTHESIS: Including patella lowering into the components of multilevel surgery is beneficial in patients with crouch gait and patella alta. MATERIAL ET METHODS: In 12 lower limbs with patella alta (Caton-Deschamps index >1...
June 16, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28629717/sarcopenia-screened-by-the-sarc-f-questionnaire-and-physical-performances-of-elderly-women-a-cross-sectional-study
#19
Yves Rolland, Charlotte Dupuy, Gabor Abellan Van Kan, Matteo Cesari, Bruno Vellas, Marie Faruch, Cedric Dray, Philipe de Souto Barreto
OBJECTIVES: Screening for sarcopenia in daily practice can be challenging. Our objective was to explore whether the SARC-F questionnaire is a valid screening tool for sarcopenia (defined by the Foundation for the National Institutes of Health [FNIH] criteria). Moreover, we evaluated the physical performance of older women according to the SARC-F questionnaire. DESIGN: Cross-sectional study. PARTICIPANTS: Data from the Toulouse and Lyon EPIDémiologie de l'OStéoporose study (EPIDOS) on 3025 women living in the community (mean age: 80...
June 16, 2017: Journal of the American Medical Directors Association
https://www.readbyqxmd.com/read/28629269/aquatic-obstacle-training-improves-freezing-of-gait-in-parkinson-s-disease-patients-a-randomized-controlled-trial
#20
Zhizhong Zhu, Miaomiao Yin, Liling Cui, Ying Zhang, Weijia Hou, Yaqing Li, Hua Zhao
OBJECTIVE: Our aim was to evaluate the effect of aquatic obstacle training on balance parameters in comparison with a traditional aquatic therapy in patients with Parkinson's disease. DESIGN: A randomized single-blind controlled trial. SETTING: Outpatients in the rehabilitation department. SUBJECTS: A total of 46 patients with Parkinson's disease in Hoehn-Yahr stage 2-3. INTERVENTIONS: Participants were randomly assigned to (1) aquatic therapy or (2) obstacle aquatic therapy...
June 1, 2017: Clinical Rehabilitation
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