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https://www.readbyqxmd.com/read/28548707/phenotypes-and-genotypes-in-individuals-with-smc1a-variants
#1
Sylvia Huisman, Paul A Mulder, Egbert Redeker, Ingrid Bader, Anne-Marie Bisgaard, Alice Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valerie Cormier-Daire, Matthew A Deardorff, Karin Diderich, Mariet Elting, Anthonie van Essen, David Fitz Patrick, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Katta M Girisha, Yvonne Hilhorst-Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Jo Moss, Sarah E Noon, Chris Oliver, Ilaria Parenti, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara L Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C Hennekam
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype...
May 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28546809/comparison-of-brain-activation-during-motor-imagery-and-motor-movement-using-fnirs
#2
Alyssa M Batula, Jesse A Mark, Youngmoo E Kim, Hasan Ayaz
Motor-activity-related mental tasks are widely adopted for brain-computer interfaces (BCIs) as they are a natural extension of movement intention, requiring no training to evoke brain activity. The ideal BCI aims to eliminate neuromuscular movement, making motor imagery tasks, or imagined actions with no muscle movement, good candidates. This study explores cortical activation differences between motor imagery and motor execution for both upper and lower limbs using functional near-infrared spectroscopy (fNIRS)...
2017: Computational Intelligence and Neuroscience
https://www.readbyqxmd.com/read/28541374/motor-function-and-incident-dementia-a-systematic-review-and-meta-analysis
#3
Jacqueline Kathleen Kueper, Mark Speechley, Navena Rebecca Lingum, Manuel Montero-Odasso
Background: cognitive and mobility decline are interrelated processes, whereby mobility decline coincides or precedes the onset of cognitive decline. Objective: to assess whether there is an association between performance on motor function tests and incident dementia. Methods: electronic database, grey literature and hand searching identified studies testing for associations between baseline motor function and incident dementia in older adults...
May 25, 2017: Age and Ageing
https://www.readbyqxmd.com/read/28540536/effects-of-robot-assisted-upper-limb-rehabilitation-in-stroke-patients-a-systematic-review-with-meta-analysis
#4
Rachele Bertani, Corrado Melegari, Maria C De Cola, Alessia Bramanti, Placido Bramanti, Rocco Salvatore Calabrò
Technology-supported training is emerging as a solution to support therapists in their efforts providing high-intensity, repetitive, and task-specific treatment, in order to enhance the recovery process. The aim of this review is to assess the effectiveness of different robotic devices (end-effector and exoskeleton robots) in comparison with any other type of intervention. Furthermore, we aim to assess whether or not better improvements are obtained in the sub-acute phase after stroke onset than in the chronic phase...
May 24, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28539911/the-use-of-functional-electrical-stimulation-on-the-upper-limb-and-interscapular-muscles-of-patients-with-stroke-for-the-improvement-of-reaching-movements-a-feasibility-study
#5
Alicia Cuesta-Gómez, Francisco Molina-Rueda, Maria Carratala-Tejada, Eukene Imatz-Ojanguren, Diego Torricelli, Juan Carlos Miangolarra-Page
INTRODUCTION: Reaching movements in stroke patients are characterized by decreased amplitudes at the shoulder and elbow joints and greater displacements of the trunk, compared to healthy subjects. The importance of an appropriate and specific contraction of the interscapular and upper limb (UL) muscles is crucial to achieving proper reaching movements. Functional electrical stimulation (FES) is used to activate the paretic muscles using short-duration electrical pulses. OBJECTIVE: To evaluate whether the application of FES in the UL and interscapular muscles of stroke patients with motor impairments of the UL modifies patients' reaching patterns, measured using instrumental movement analysis systems...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28539691/goals-set-by-patients-using-the-icf-model-before-receiving-botulinum-injections-and-their-relation-to-spasticity-distribution
#6
Kevin Choi, Jaclyn Peters, Andrew Tri, Elizabeth Chapman, Ayako Sasaki, Farooq Ismail, Chris Boulias, Shannon Reid, Chetan P Phadke
Purpose: Goal Attainment Scaling (GAS) is used to assess functional gains in response to treatment. Specific characteristics of the functional goals set by individuals receiving botulinum toxin type A (BoNTA) injections for spasticity management are unknown. The primary objectives of this study were to describe the characteristics of the goals set by patients before receiving BoNTA injections using the International Classification of Functioning, Disability and Health (ICF) and to determine whether the pattern of spasticity distribution affected the goals set...
2017: Physiotherapy Canada. Physiothérapie Canada
https://www.readbyqxmd.com/read/28539399/using-theoretical-models-from-adult-stroke-recovery-to-improve-use-of-non-invasive-brain-stimulation-for-children-with-congenital-hemiparesis
#7
Yin-Liang Lin, Kelsey A Potter-Baker
Non-invasive brain stimulation has been widely used for adults with stroke to improve upper limb motor function. A recent study by Kirton and colleagues (Kirton A, Ciechanski P, Zewdie E et al. Neurology 2017, doi: 10.1212/WNL.0000000000003518) applied non-invasive brain stimulation to children with congenital hemiparesis but found no significant effect of non-invasive brain stimulation on motor function. Here, we explore theories about cortical reorganization in both adult and children with hemiparesis and discuss how to improve the approaches of non-invasive brain stimulation to generate optimal motor improvement and development for children with congenital hemiparesis...
May 24, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28538303/examining-fundamental-movement-competency-and-closed-chain-upper-extremity-dynamic-balance-in-swimmers
#8
Garrett S Bullock, Nate Brookreson, Amy M Knab, Robert J Butler
Bullock, GS, Brookreson, N, Knab, AM, and Butler, RJ. Examining fundamental movement competency and closed-chain upper-extremity dynamic balance in swimmers. J Strength Cond Res 31(6): 1544-1551, 2017-Abnormal fundamental movement patterns and upper-quarter dynamic balance are proposed mechanisms affecting athletic performance and injury risk. There are few studies investigating functional movement and closed-chain upper-extremity dynamic stability in swimmers. The purpose of this study was to determine differences in fundamental movement competency and closed-chain upper-extremity dynamic balance, using the Functional Movement Screen (FMS) and Upper-Quarter Y Balance Test (YBT-UQ), of high school (HS; n = 70) and collegiate (COL; n = 70) swimmers...
June 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28535551/angiotensin-converting-enzyme-inhibitors-and-angiotensin-receptor-blockers-modulate-the-function-of-myelinated-fibers-after-chemotherapy-a-quantitative-sensory-testing-study
#9
Carlos J Roldan, Juhee Song, Mitchell P Engle, Patrick M Dougherty
BACKGROUND: Angiotensin-converting enzyme inhibitors (ACEI) and angiotensin receptor blockers (ARB) have sufficient scientific support for their use as tissue protectors. Preliminary studies suggest that their angiotensin-II type 2 receptor (AT2R)-blocking properties have a beneficial profile in the treatment of neuropathic pain. OBJECTIVES: The purpose of the current study was to quantify the extent of the somatosensory effects of ACEI and ARB in cancer patients with chemotherapy-induced peripheral neuropathy...
May 2017: Pain Physician
https://www.readbyqxmd.com/read/28532877/task-based-mirror-therapy-enhances-ipsilesional-motor-functions-in-stroke-a-pilot-study
#10
Kamal Narayan Arya, Shanta Pandian, Dharmendra Kumar
OBJECTIVE: To examine the effect of Mirror therapy (MT) on dexterity, coordination, and muscle strength of the less-affected upper limb in stroke. DESIGN: Pre-test post-test, single group, experimental design. SETTING: Rehabilitation institute. PARTICIPANTS: Post-stroke hemiparetic chronic subjects (N = 21). INTERVENTIONS: Forty sessions of MT using various tasks in addition to the conventional rehabilitation...
April 2017: Journal of Bodywork and Movement Therapies
https://www.readbyqxmd.com/read/28532464/neurorehabilitation-in-upper-limb-amputation-understanding-how-neurophysiological-changes-can-affect-functional-rehabilitation
#11
REVIEW
Lewis A Wheaton
BACKGROUND: Significant advances have been made in developing new prosthetic technologies with the goal of restoring function to persons that suffer partial or complete loss of the upper limb. Despite these technological advances, many challenges remain in understanding barriers in patient adoption of technology, and what critical factors should be of focus in prosthetics development from a motor control perspective. This points to a potential opportunity to improve our understanding of amputation using neurophysiology and plasticity, and integrate this knowledge into the development of prosthetics technology in novel ways...
May 22, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28527226/play-seriously-effectiveness-of-serious-games-and-their-features-in-motor-rehabilitation-a-meta-analysis
#12
Diana Tăut, Sebastian Pintea, Jan-Paul W R Roovers, Miguel-Angel Mañanas, Adriana Băban
BACKGROUND: Evidence for the effectiveness of serious games (SGs) and their various features is inconsistent in the motor rehabilitation field, which makes evidence based development of SGs a rare practice. OBJECTIVE: To investigate the effectiveness of SGs in motor rehabilitation for upper limb and movement/balance and to test the potential moderating role of SGs features like feedback, activities, characters and background. METHODS: We ran a meta-analysis including 61 studies reporting randomized controlled trials (RCTs), controlled trials (CTs) or case series designs in which at least one intervention for motor rehabilitation included the use of SGs as standalone or in combination...
May 19, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28527225/clinical-feasibility-of-gait-training-with-a%C3%A2-robotic-exoskeleton-wpal-in-an-individual-with-both-incomplete-cervical-and-complete-thoracic-spinal-cord-injury-a%C3%A2-case-study
#13
Shigeo Tanabe, Soichiro Koyama, Eiichi Saitoh, Satoshi Hirano, Kanan Yatsuya, Tetsuya Tsunoda, Masaki Katoh, Takeshi Gotoh, Ayako Furumoto
BACKGROUND: Patients with tetraplegia can achieve independent gait with lateral-type powered exoskeletons; it is unclear whether medial-type powered exoskeletons allow for this. OBJECTIVE: To investigate gait training with a medial-type powered exoskeleton wearable power-assist locomotor (WPAL) in an individual with incomplete cervical (C5) and complete thoracic (T12) spinal cord injury (SCI). METHODS: The 60-session program was investigated retrospectively using medical records...
May 19, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28527156/the-effect-of-aerobic-or-aerobic-strength-exercise-on-body-composition-and-functional-capacity-in-patients-with-bmi-%C3%A2-35-after-bariatric-surgery-a-randomized-control-trial
#14
Alireza Hassannejad, Alireza Khalaj, Mohammad Ali Mansournia, Mastaneh Rajabian Tabesh, Zahra Alizadeh
BACKGROUND: Although previous studies suggested that bariatric surgery is the most effective and sustainable treatment method for morbid obesity in long term, but without changing in lifestyle, maintaining optimal weight loss is almost impossible. METHODS: Sixty morbid obese patients (BMI ≥ 35) were evaluated before and after 12 weeks of bariatric surgery in order to compare the impact of two different exercise programs on body composition and functional capacity outcomes...
May 19, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28525482/artificial-cervical-disk-replacement-for-the-treatment-of-adjacent-segment-disease-after-anterior-cervical-decompression-and-fusion
#15
Sheng Bin, Huang Xiangwang, Xiao Sheng, Xiang Tiecheng, Liu Xiangyang, Zhang Yi, Liu Bin
STUDY DESIGN: Retrospective study. OBJECTIVE: To evaluate the outcome of artificial cervical disk replacement (ACDR) for the treatment of adjacent segment disease (ASD) after anterior cervical decompression and fusion (ACDF). SUMMARY OF BACKGROUND DATA: ACDF is the useful procedure for degenerative cervical diseases. However, studies have reported accelerated degeneration of functional spinal units adjacent to the fusion site after ACDF. MATERIALS AND METHODS: Between January 2004 and January 2011, 32 inpatients (18 male, 14 female; age, 38-61 y; mean, 48 y) underwent ACDR for the treatment of ASD after previous ACDF (single-level: n=12; 2-level: n=15; 3-level: n=5)...
June 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28521852/upper-limb-nerve-transfers-a-review
#16
A Forli, M Bouyer, M Aribert, C Curvale, M Delord, D Corcella, F Moutet
While upper limb nerve transfers were first described and performed several years ago, they have seen expanded use in the past 20 years. Initially indicated for surgical repair of brachial plexus injuries with nerve root avulsion, the indications have been extended to post-ganglionic lesions because of the excellent results of certain intraplexus nerve transfers. The traditional nerve repair techniques - primary suture and nerve grafting - form the basis of nerve surgery. Although nerve transfer does not replace them, they are a useful supplement as they provide a targeted approach to reinnervation and recovery of key functions of the upper limb...
June 2017: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/28518079/a-method-for-quantifying-upper-limb-performance-in-daily-life-using-accelerometers
#17
Catherine E Lang, Kimberly J Waddell, Joseph W Klaesner, Marghuretta D Bland
A key reason for referral to rehabilitation services after stroke and other neurological conditions is to improve one's ability to function in daily life. It has become important to measure a person's activities in daily life, and not just measure their capacity for activity in the structured environment of a clinic or laboratory. A wearable sensor that is now enabling measurement of daily movement is the accelerometer. Accelerometers are commercially-available devices resembling large wrist watches that can be worn throughout the day...
April 21, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28515706/research-priorities-in-limb-and-task-specific-dystonias
#18
REVIEW
Sarah Pirio Richardson, Eckart Altenmüller, Katharine Alter, Ron L Alterman, Robert Chen, Steven Frucht, Shinichi Furuya, Joseph Jankovic, H A Jinnah, Teresa J Kimberley, Codrin Lungu, Joel S Perlmutter, Cecília N Prudente, Mark Hallett
Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer's cramp, runner's dystonia, or musician's dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28513303/effects-of-functional-task-training-on-older-adults-with-alzheimer-s-disease
#19
Renata Valle Pedroso, Carlos Ayán, Francisco J Fraga, Thays Martins Vital da Silva, José Maria Cancela, Ruth Ferreira Santos-Galduròz
The aim of this study was to verify the effects of functional-task training on cognitive function, activities of daily living (ADL) performance and functional fitness in community-dwelling older adults with diagnosis of Alzheimer's disease (AD). A total of 57 participants (22 functional-task training group-FTG, 21 social gathering group-SGG, 14 control group-CG) were recruited. Participants in both intervention groups carried out three one-hour sessions per week of a functional-task program and social gathering activities for 12-weeks...
May 17, 2017: Journal of Aging and Physical Activity
https://www.readbyqxmd.com/read/28512066/use-of-electroencephalography-brain-computer-interface-systems-as-a-rehabilitative-approach-for-upper-limb-function-after-a-stroke-a-systematic-review
#20
REVIEW
Esther Monge-Pereira, Jaime Ibañez-Pereda, Isabel M Alguacil-Diego, Jose I Serrano, María P Spottorno-Rubio, Francisco Molina-Rueda
BACKGROUND: Brain computer interface (BCI) systems have been suggested as a promising tool for neurorehabilitation. However, to date, there is a lack of homogeneous findings. Furthermore, no systematic reviews have analyzed the degree of validation of these interventions for upper limb (UL) motor rehabilitation post-stroke. OBJECTIVES: To compile all available studies that assess an UL intervention based on an electroencephalography (EEG) - BCI system in stroke...
May 13, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
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