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https://www.readbyqxmd.com/read/29149772/natural-history-of-infantile-onset-spinal-muscular-atrophy
#1
Stephen J Kolb, Christopher S Coffey, Jon W Yankey, Kristin Krosschell, W David Arnold, Seward B Rutkove, Kathryn J Swoboda, Sandra P Reyna, Ai Sakonju, Basil T Darras, Richard Shell, Nancy Kuntz, Diana Castro, Julie Parsons, Anne M Connolly, Claudia A Chiriboga, Craig McDonald, W Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B Shieh, Erika Finanger, Merit E Cudkowicz, Michelle M McGovern, D Elizabeth McNeil, Richard Finkel, Susan T Iannaccone, Edward Kaye, Allison Kingsley, Samantha R Renusch, Vicki L McGovern, Xueqian Wang, Phillip G Zaworski, Thomas W Prior, Arthur H M Burghes, Amy Bartlett, John T Kissel
OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death prior to age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age...
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29149731/purinergic-drug-targets-for-gastrointestinal-disorders
#2
REVIEW
Geoffrey Burnstock, Kenneth A Jacobson, Fievos L Christofi
Purinergic receptors are implicated in the pathogenesis of gastrointestinal disorders and are being explored as potential therapeutic targets. Gut inflammation releases ATP that acts on neuronal, glial, epithelial and immune cells. Purinergic signalling in glia and neurons is implicated in enteric neuropathies. Inflammation activates glia to increase ATP release and alter purinergic signalling. ATP release causes neuron death and gut motor dysfunction in colitis via a P2X7-dependent neural-glial pathway and a glial purinergic-connexin-43 pathway...
November 14, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/29149697/characteristics-of-motor-speech-phenotypes-in-multiple-sclerosis
#3
Jan Rusz, Barbora Benova, Hana Ruzickova, Michal Novotny, Tereza Tykalova, Jan Hlavnicka, Tomas Uher, Manuela Vaneckova, Michaela Andelova, Klara Novotna, Lucie Kadrnozkova, Dana Horakova
BACKGROUND: Motor speech disorders in multiple sclerosis (MS) are poorly understood and their quantitative, objective acoustic characterization remains limited. Additionally, little data regarding relationships between the severity of speech disorders and neurological involvement in MS, as well as the contribution of pyramidal and cerebellar functional systems on speech phenotypes, is available. METHODS: Speech data were acquired from 141 MS patients with Expanded Disability Status Scale (EDSS) ranging from 1 to 6...
November 8, 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29149655/one-year-after-ischemic-stroke-changes-in-leg-movement-path-stability-in-a-speed-accuracy-task-but-no-major-effects-on-the-hands
#4
Albertas Skurvydas, Vilma Juodzbaliene, Tomas Darbutas, Marius Brazaitis
First year after the stroke is essential for motor recovery. The main motor control strategy (i.e., faster movement production at the expense of lower movement accuracy and stability, or greater movement accuracy and stability at the expense of slower movement) selected by poststroke patients during a unilateral speed-accuracy task (SAT) remains unclear. We aimed to investigate the poststroke (12 months after stroke) effects on the trade-off between movement speed and accuracy, and intraindividual variability during a motor performance task...
November 14, 2017: Human Movement Science
https://www.readbyqxmd.com/read/29149358/clinically-directed-neuroimaging-of-ophthalmoplegia
#5
REVIEW
Lucia Danieli, Margherita Montali, Luca Remonda, Hanspeter E Killer, Cesare Colosimo, Alessandro Cianfoni
PURPOSE: Ophthalmoplegia (OP) can have numerous etiologies and different clinical presentations. Most causes of OP can be narrowed down to specific anatomical locations based on clinical information. The aim of this study was to outline the different categories of diseases encountered in patients with OP, based on the location along the ocular motor pathways, and the most appropriate imaging modality for the given scenarios. METHODS: Representative neuroimaging examples of pathological processes causing OP are displayed, sequenced by anatomical location and disease category...
November 17, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29149290/discovering-the-3-utr-mediated-regulation-of-alpha-synuclein
#6
Domenica Marchese, Teresa Botta-Orfila, Davide Cirillo, Juan Antonio Rodriguez, Carmen Maria Livi, Rubén Fernández-Santiago, Mario Ezquerra, Maria J Martí, Elias Bechara, Gian Gaetano Tartaglia
Recent evidence indicates a link between Parkinson's Disease (PD) and the expression of a-synuclein (SNCA) isoforms with different 3' untranslated regions (3'UTRs). Yet, the post-transcriptional mechanisms regulating SNCA expression are unknown. Using a large-scale in vitro/in silico screening we identified RNA-binding proteins (RBPs) that interact with SNCA 3' UTRs. We identified two RBPs, ELAVL1 and TIAR, that bind with high affinity to the most abundant and translationally active 3' UTR isoform (575 nt)...
November 15, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29149213/optimal-design-and-control-of-an-electromechanical-transfemoral-prosthesis-with-energy-regeneration
#7
Farbod Rohani, Hanz Richter, Antonie J van den Bogert
In this paper, we present the design of an electromechanical above-knee active prosthesis with energy storage and regeneration. The system consists of geared knee and ankle motors, parallel springs for each motor, an ultracapacitor, and controllable four-quadrant power converters. The goal is to maximize the performance of the system by finding optimal controls and design parameters. A model of the system dynamics was developed, and used to solve a combined trajectory and design optimization problem. The objectives of the optimization were to minimize tracking error relative to human joint motions, as well as energy use...
2017: PloS One
https://www.readbyqxmd.com/read/29148909/inhibition-of-gaba-transporters-fails-to-afford-significant-protection-following-focal-cerebral-ischemia
#8
Maria Ek Lie, Emma K Gowing, Rasmus P Clausen, Petrine Wellendorph, Andrew N Clarkson
Brain ischemia triggers excitotoxicity and cell death, yet no neuroprotective drugs have made it to the clinic. While enhancing GABAergic signaling to counterbalance excitotoxicity has shown promise in animal models, clinical studies have failed. Blockade of GABA transporters (GATs) offers an indirect approach to increase GABA inhibition to lower the excitation threshold of neurons. Among the GATs, GAT1 is known to promote neuroprotection, while the protective role of the extrasynaptic transporters GAT3 and BGT1 is elusive...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29148855/effects-of-virtual-reality-based-training-with-bts-nirvana-on-functional-recovery-in-stroke-patients-preliminary-considerations
#9
Rosaria De Luca, Margherita Russo, Antonino Naro, Provvidenza Tomasello, Simona Leonardi, Floriana Santamaria, Latella Desireè, Alessia Bramanti, Giuseppe Silvestri, Placido Bramanti, Rocco Salvatore Calabrò
AIM OF THE STUDY: cognitive impairment occurs frequently in post-stroke patients. This study aimed to determine the effects of a virtual reality training (VRT) with BTs-Nirvana (BTsN) on the recovery of cognitive functions in stroke patients, using the Interactive-Semi-Immersive Program (I-SIP). MATERIALS AND METHODS: We enrolled 12 subjects (randomly divided into two groups: experimental group -EG; and control group -CG), who attended the Laboratory of Robotic and Cognitive Rehabilitation of IRCCS Neurolesi of Messina from January to June 2016...
November 17, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29148845/speech-recovery-and-language-plasticity-can-be-facilitated-by-sensori-motor-fusion-training-in-chronic-non-fluent-aphasia-a-case-report-study
#10
Célise Haldin, Audrey Acher, Louise Kauffmann, Thomas Hueber, Emilie Cousin, Pierre Badin, Pascal Perrier, Diandra Fabre, Dominic Perennou, Olivier Detante, Assia Jaillard, Hélène Lœvenbruck, Monica Baciu
The rehabilitation of speech disorders benefits from providing visual information which may improve speech motor plans in patients. We tested the proof of concept of a rehabilitation method (Sensori-Motor Fusion, SMF; Ultraspeech player) in one post-stroke patient presenting chronic non-fluent aphasia. SMF allows visualisation by the patient of target tongue and lips movements using high-speed ultrasound and video imaging. This can improve the patient's awareness of his/her own lingual and labial movements, which can, in turn, improve the representation of articulatory movements and increase the ability to coordinate and combine articulatory gestures...
November 17, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/29148568/intrathecal-baclofen-in-dyskinetic-cerebral-palsy-effects-on-function-and-activity
#11
Meta N Eek, Kristina Olsson, Karin Lindh, Berit Askljung, Magnus Påhlman, Olle Corneliusson, Kate Himmelmann
AIM: To investigate the effect of intrathecal baclofen (ITB) on function and activity in dyskinetic cerebral palsy (CP). METHOD: A retrospective cohort study of records from 25 children (15 males, 10 females; mean age 10y 11mo, SD 4y 9mo). Five were classified in Gross Motor Function Classification level IV and 20 in level V. Parents were interviewed about activities in daily life, sitting, communication, pain, sleep, and gross and fine motor function. Differences before and 1 year after ITB were graded as positive, no change, or negative...
November 17, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29148558/ultrasound-propelled-nanowire-motors-enhance-asparaginase-enzymatic-activity-against-cancer-cells
#12
Murat Uygun, Beatriz Jurado-Sánchez, Deniz Aktas Uygun, Virendra Vikram Singh, Liangfang Zhang, Joseph Wang
Ultrasound-(US) propelled nanowires consisting of Au/Ni/Au/PEDOT-PPy-COOH segments are modified with asparaginase enzyme and applied as an effective anti-cancer agent. After immobilization of asparaginase onto the surface of the nanowire motors, the enzyme displays enhanced thermal and pH stabilities, improved resistance towards protease, and higher affinity for the substrate. The fast motion of the motor-carrying asparaginase leads to greatly accelerated biocatalytic depletion of asparagine and hence to a significantly enhanced inhibition efficacy against El4 lymphoma cancer cells (92%) as compared to free enzyme counterpart (17%) and other control groups...
November 17, 2017: Nanoscale
https://www.readbyqxmd.com/read/29148138/artificial-walking-technologies-to-improve-gait-in-cerebral-palsy-multichannel-neuromuscular-stimulation
#13
Jessica Rose, Katelyn Cahill-Rowley, Erin E Butler
Cerebral palsy (CP) is the most common childhood motor disability and often results in debilitating walking abnormalities, such as flexed-knee and stiff-knee gait. Current medical and surgical treatments are only partially effective in improving gait abnormalities and may cause significant muscle weakness. However, emerging artificial walking technologies, such as step-initiated, multichannel neuromuscular electrical stimulation (NMES), can substantially improve gait patterns and promote muscle strength in children with spastic CP...
November 2017: Artificial Organs
https://www.readbyqxmd.com/read/29148137/brain-computer-interfaces-with-multi-sensory-feedback-for-stroke-rehabilitation-a-case-study
#14
Danut C Irimia, Woosang Cho, Rupert Ortner, Brendan Z Allison, Bogdan E Ignat, Guenter Edlinger, Christoph Guger
Conventional therapies do not provide paralyzed patients with closed-loop sensorimotor integration for motor rehabilitation. This work presents the recoveriX system, a hardware and software platform that combines a motor imagery (MI)-based brain-computer interface (BCI), functional electrical stimulation (FES), and visual feedback technologies for a complete sensorimotor closed-loop therapy system for poststroke rehabilitation. The proposed system was tested on two chronic stroke patients in a clinical environment...
November 2017: Artificial Organs
https://www.readbyqxmd.com/read/29148131/temporal-and-spatial-variability-of-surface-motor-activation-zones-in-hemiplegic-patients-during-functional-electrical-stimulation-therapy-sessions
#15
Jovana Malešević, Matija Štrbac, Milica Isaković, Vladimir Kojić, Ljubica Konstantinović, Aleksandra Vidaković, Suzana Dedijer Dujović, Miloš Kostić, Thierry Keller
The goal of this study was to investigate surface motor activation zones and their temporal variability using an advanced multi-pad functional electrical stimulation system. With this system motor responses are elicited through concurrent activation of electrode matrix pads collectively termed "virtual electrodes" (VEs) with appropriate stimulation parameters. We observed VEs used to produce selective wrist, finger, and thumb extension movements in 20 therapy sessions of 12 hemiplegic stroke patients. The VEs which produce these three selective movements were created manually on the ergonomic multi-pad electrode by experienced clinicians based on visual inspection of the muscle responses...
November 2017: Artificial Organs
https://www.readbyqxmd.com/read/29148128/step-ergometer-training-augmented-with-functional-electrical-stimulation-in-individuals-with-chronic-spinal-cord-injury-a-feasibility-study
#16
Candy Tefertiller, Don Gerber
Spinal cord injury (SCI) often results in loss of upright mobility and independence subsequently challenging rehabilitation practitioners for meaningful intervention strategies. The objective of this study was to evaluate the feasibility and potential impact on walking function of the stimulation and ergometer training protocol (STEP) in chronic SCI. Fourteen individuals with a chronic motor incomplete SCI (>1-year post injury) were enrolled in the study. The intervention consisted of a 12-week walking training program delivered three times per week from 20 up to 45 min in combination with 10 channels of FES on a step ergometer...
November 2017: Artificial Organs
https://www.readbyqxmd.com/read/29148080/genetic-risk-factors-for-perception-of-symptoms-in-gerd-an-observational-cohort-study
#17
A Patel, S Hasak, B D Nix, G S Sayuk, R D Newberry, C P Gyawali
BACKGROUND: Genetic polymorphisms in G-protein beta-3 subunit (GNβ3) and beta-2 adrenergic receptor (ADRB2) are associated with pain and gut hypersensitivity, which can overlap with gastroesophageal reflux disease (GERD). AIM: To evaluate relationships between single nucleotide polymorphisms (SNPs) within GNβ3 and ADRB2 systems, and reflux symptom burden, GERD phenotypes from ambulatory reflux monitoring, and quality of life. METHODS: Symptomatic adults undergoing ambulatory reflux testing were recruited and phenotyped based on acid burden and symptom reflux association; major oesophageal motor disorders and prior foregut surgery were exclusions...
November 17, 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29148051/mechanical-parameters-of-the-molecular-motor-myosin-ii-determined-in-permeabilised-fibres-from-slow-and-fast-skeletal-muscles-of-the-rabbit
#18
Valentina Percario, Simona Boncompagni, Feliciano Protasi, Irene Pertici, Francesca Pinzauti, Marco Caremani
The skeletal muscle exhibits large functional differences depending on the myosin heavy chain (MHC) isoform expressed in its molecular motor myosin II. The differences in the mechanical features of force generation by myosin isoforms are investigated in situ by using fast sarcomere-level mechanical methods in permeabilised fibres (sarcomere length 2.4 μm, temperature 12°C, 4% dextran T-500) from the slow (soleus, containing the MHC-1 isoform) and the fast (psoas, containing the MHC-2X isoform) skeletal muscle of the rabbit...
November 17, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/29148035/late-age-onset-of-amyotrophic-lateral-sclerosis-is-often-not-considered-in-elderly-people
#19
E Broussalis, S Grinzinger, A B Kunz, M Killer-Oberpfalzer, E Haschke-Becher, H-P Hartung, J Kraus
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease causing an upper and lower motor neuron loss. It is neurology textbook knowledge that the mean age of onset is about 60 years. However, recent investigations show an increasing incidence in older persons. We therefore evaluated whether ALS is potentially not considered in elderly people with ALS symptoms, respectively, not recognized. MATERIALS AND METHODS: We included retrospectively all patients with ALS diagnoses after work-up that were admitted to our neurological and geriatric departments from 2007 to 2010 and collected their clinical data...
November 17, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29147795/preoperative-pregabalin-has-no-effect-on-intraoperative-neurophysiological-monitoring-in-adolescents-undergoing-posterior-spinal-fusion-for-spinal-deformities-a-double-blind-randomized-placebo-controlled-clinical-trial
#20
Linda Helenius, Antti Puhakka, Tuula Manner, Olli Pajulo, Ilkka Helenius
PURPOSE: This study was designed to evaluate the effect of preoperative pregabalin on intraoperative neurophysiological monitoring in adolescents undergoing surgery for spinal deformities. METHODS: Thirty-one adolescents undergoing posterior spinal fusion were randomized to receive preoperatively either pregabalin 2 mg/kg twice daily or placebo. The ability to make reliable intraoperative neurophysiological measurements, transcranial motor (MEPs) and sensory evoked potentials (SSEP) was evaluated...
November 17, 2017: European Spine Journal
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