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Lance H Rodan, Christelle Moufawad El Achkar, Gerard T Berry, Annapurna Poduri, Sanjay P Prabhu, Edward Yang, Irina Anselm
TUBB2A is a gene that has recently been reported in association with structural brain abnormalities. Only 3 cases have been reported to date with disparate brain morphologic abnormalities, although all patients have presented with developmental delay and infantile-onset epilepsy. We report a fourth patient with a de novo variant in TUBB2A that is predicted to be pathogenic, presenting with developmental delay, spastic diplegia, exaggerated startle, and anterior temporal pachygyria in the absence of epilepsy...
October 21, 2016: Journal of Child Neurology
Eiji Matsuura, Yoshimi Enose-Akahata, Karen Yao, Unsong Oh, Yuetsu Tanaka, Hiroshi Takashima, Steven Jacobson
Pathology of HTLV-1 associated myelopathy/Tropical spastic paraparesis (HAM/TSP) is believed to be the result of "bystander damage" involving effector CD8 (+) T lymphocytes (CTLs) killing of virus infected cells. But the specific cellular events leading up to tissue injury are still unclear. Here, we developed the Microscopy Imaging of Cytotoxic T lymphocyte assay with Fluorescence emission (MI-CaFé), an optimized visualization analysis to explore the interactions between CTLs and virus infected or viral antigen presenting target cells...
October 3, 2016: Journal of Neuroimmunology
John McGuire, Kelly Heath, Michael W O'Dell
No abstract text is available yet for this article.
October 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Daniel Lordelo San Martin, Dislene Nascimento Dos Santos, Abrahão Fontes Baptista
OBJECTIVE: To describe the pain in patients infected with human T-cell lymphotropic virus type 1, clinically and epidemiologically. METHODS: This systematic review was based on The PRISMA Statement. Four reviewers searched PUBMED, SciELO, LILACS and BIREME for data from observational studies and clinical trials (n≥30) regarding pain prevalence, characteristics, and associated factors in patients with human T-cell lymphotropic virus type 1. No limits on publication date or language were established...
October 18, 2016: Brazilian Journal of Infectious Diseases
Meta N Eek, Kate Himmelmann
Spasticity and muscle weakness is common in children with cerebral palsy (CP). Spasticity can be treated with botulinum neurotoxin-A (BoNT-A), but this drug has also been reported to induce muscle weakness. Our purpose was to describe the effect on muscle strength in the lower extremities after BoNT-A injections in children with CP. A secondary aim was to relate the effect of BoNT-A to gait pattern and range of motion. Twenty children with spastic CP were included in the study, 8 girls and 12 boys (mean age 7...
2016: Frontiers in Human Neuroscience
Domenico Intiso, Andrea Santamato, Filomena Di Rienzo
OBJECTIVE: To investigate whether electrical stimulation (ES) as an adjunct to BTX-A boosts botulinum activity and whether the combined therapeutic procedure is more effective than BTX-A alone in reducing spasticity in adult subjects. DATA SOURCES: A search was conducted in PubMed, EMBASE, Cochrane Central Register, and CINAHL from January 1966 to January 2016. STUDY SELECTION: Only randomized controlled studies (RCT) involving the combination of BTX-A and ES were considered...
October 21, 2016: Disability and Rehabilitation
Anand Pandey, Vipin Gupta, Shailendra P Singh, Vijendra Kumar, Rajesh Verma
A trophic ulcer is a pressure ulcer caused by external trauma to a part of the body that is compromised due to disease, vascular insufficiency, or loss of afferent nerve fibers. Spinal dysraphism (ie, neural tube defects [NTD]) such as meningomyelocele is a risk factor for developing these ulcers in adults and pediatric patients. Information regarding the occurrence of trophic ulcers in pediatric patients with NTD is lacking. A review of the English-language literature on skin/neuropathic ulcers in patients with NTDs, irrespective of study design, published between 1975 and 2014, was undertaken using the PubMed database...
December 2015: Ostomy/wound Management
Daryl C Yang, Jennifer R Deuis, Daniel Dashevsky, James Dobson, Timothy N W Jackson, Andreas Brust, Bing Xie, Ivan Koludarov, Jordan Debono, Iwan Hendrikx, Wayne C Hodgson, Peter Josh, Amanda Nouwens, Gregory J Baillie, Timothy J C Bruxner, Paul F Alewood, Kelvin Kok Peng Lim, Nathaniel Frank, Irina Vetter, Bryan G Fry
Millions of years of evolution have fine-tuned the ability of venom peptides to rapidly incapacitate both prey and potential predators. Toxicofera reptiles are characterized by serous-secreting mandibular or maxillary glands with heightened levels of protein expression. These glands are the core anatomical components of the toxicoferan venom system, which exists in myriad points along an evolutionary continuum. Neofunctionalisation of toxins is facilitated by positive selection at functional hotspots on the ancestral protein and venom proteins have undergone dynamic diversification in helodermatid and varanid lizards as well as advanced snakes...
October 18, 2016: Toxins
Akira Ikumi, Shigeki Kubota, Yukiyo Shimizu, Hideki Kadone, Aiki Marushima, Tomoyuki Ueno, Hiroaki Kawamoto, Yasushi Hada, Akira Matsumura, Yoshiyuki Sankai, Masashi Yamazaki
CONTEXT: Recently, locomotor training with robotic assistance has been found effective in treating spinal cord injury (SCI). Our case report examined locomotor training using the robotic suit hybrid assistive limb (HAL) in a patient with complete C4 quadriplegia due to chronic SCI. This is the first report examining HAL in complete C4 quadriplegia. FINDINGS: The patient was a 19-year-old man who dislocated C3/4 during judo 4 years previously. Following the injury, he underwent C3/4 posterior spinal fusion but remained paralyzed despite rehabilitation...
October 20, 2016: Journal of Spinal Cord Medicine
Salima El Chehadeh, Renaud Touraine, Fabienne Prieur, Willie Reardon, Thierry Bienvenu, Sandrine Chantot-Bastaraud, Martine Doco-Fenzy, Emilie Landais, Christophe Philippe, Nathalie Marle, Patrick Callier, Anne-Laure Mosca-Boidron, Francine Mugneret, Nathalie Le Meur, Alice Goldenberg, Anne-Marie Guerrot, Pascal Chambon, Véronique Satre, Charles Coutton, Pierre-Simon Jouk, Françoise Devillard, Klaus Dieterich, Alexandra Afenjar, Lydie Burglen, Marie-Laure Moutard, Marie-Claude Addor, Sébastien Lebon, Danielle Martinet, Jean-Luc Alessandri, Bérénice Doray, Marguerite Miguet, Didier Devys, Pascale Saugier-Veber, Séverine Drunat, Bernard Aral, Valérie Kremer, Stéphane Rondeau, Anne-Claude Tabet, Julien Thevenon, Christel Thauvin-Robinet, Nathalie Perreton, Vincent Des Portes, Laurence Faivre
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling...
October 19, 2016: Clinical Genetics
Claudia Kathe, Thomas Haynes Hutson, Stephen Brendan McMahon, Lawrence David Falcon Moon
Brain and spinal injury reduce mobility and often impair sensorimotor processing in the spinal cord leading to spasticity. Here, we establish that complete transection of corticospinal pathways in the pyramids impairs locomotion and leads to increased spasms and excessive mono- and polysynaptic low threshold spinal reflexes in rats. Treatment of affected forelimb muscles with an adeno-associated viral vector (AAV) encoding human Neurotrophin-3 at a clinically-feasible time-point after injury reduced spasticity...
October 19, 2016: ELife
Saul Wilson, Kingsley O Abode-Iyamah, John W Miller, Chandan G Reddy, Sina Safayi, Douglas C Fredericks, Nicholas D Jeffery, Nicole A DeVries-Watson, Sara K Shivapour, Stephanus Viljoen, Brian D Dalm, Katherine N Gibson-Corley, Michael D Johnson, George T Gillies, Matthew A Howard
OBJECTIVE: To develop a large animal model of spinal cord injury (SCI), for use in translational studies of spinal cord stimulation (SCS) in the treatment of spasticity. We seek to establish thresholds for the SCS parameters associated with reduction of post-SCI spasticity in the pelvic limbs, with implications for patients. STUDY DESIGN: The weight-drop method was used to create a moderate SCI in adult sheep, leading to mild spasticity in the pelvic limbs. Electrodes for electromyography (EMG) and an epidural spinal cord stimulator were then implanted...
October 19, 2016: Journal of Spinal Cord Medicine
David Graham, Kristian Aquilina, Stephanie Cawker, Simon Paget, Neil Wimalasundera
The management of cerebral palsy (CP) is complex and requires a multidisciplinary approach. Selective dorsal rhizotomy (SDR) is a neurosurgical technique that aims to reduce spasticity in the lower limbs. A minimally invasive approach to SDR involves a single level laminectomy at the conus and utilises intraoperative electromyography (EMG). When combined with physiotherapy, SDR is effective in selected children and has minimal complications. This review discusses the epidemiology of CP and the management using SDR within an integrated multidisciplinary centre...
September 2016: J Spine Surg
Robert P Lamberts, Marlette Burger, Jacques du Toit, Nelleke G Langerak
BACKGROUND: Three-dimensional gait analysis (3DGA) is commonly used to assess the effect of orthopedic single-event multilevel surgery (SEMLS) in children with spastic cerebral palsy (CP). PURPOSE: The purpose of this systematic review is to provide an overview of different orthopedic SEMLS interventions and their effects on 3DGA parameters in children with spastic CP. METHODS: A comprehensive literature search within six databases revealed 648 records, from which 89 articles were selected for the full-text review and 24 articles (50 studies) included for systematic review...
2016: PloS One
Natália de Almeida Carvalho Duarte, Luanda André Collange Grecco, Nelci Zanon, Manuela Galli, Felipe Fregni, Claudia Santos Oliveira
A review of the literature was performed to answer the following questions: Does motor cortex excitability correlate with motor function? Do motor cortex excitability and cortex activation change after a rehabilitation program that results in improvements in motor outcomes? Can the 10-20 electroencephalography (EEG) system be used to locate the primary motor cortex when employing transcranial direct current stimulation? Is there a bihemispheric imbalance in individuals with cerebral palsy similar to what is observed in stroke survivors? the authors found there is an adaptation in the geometry of motor areas and the cortical representation of movement is variable following a brain lesion...
October 18, 2016: Journal of Motor Behavior
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
September 19, 2016: Neuromuscular Disorders: NMD
Kai Ren, Xiao-Ming Gong, Rong Zhang, Xiu-Hui Chen
OBJECTIVE: To study the effects of virtual reality (VR) training on the gross motor function of the lower limb and the fine motor function of the upper limb in children with spastic diplegia cerebral palsy. METHODS: Thirty-five children with spastic diplegia cerebral palsy were randomly assigned to VR training group (n=19) and conventional training group (n=16). The conventional training group received conventional physical therapy and occupational therapy for three months...
October 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Vildan Binay Safer, Sibel Ozbudak Demir, Esma Ozkan, Fulya Demircioglu Guneri
OBJECTIVE: To evaluate botulinum toxin serotype A (BoNT-A) effects on sleep problems in children with cerebral palsy (CP) and on mothers` sleep quality and depression at multiple time points. METHODS: This is a single center, cross sectional, and observational study was conducted to assess children with CP who were admitted. We recruited children with CP who were admitted to Ministry of Health Physical Medicine and Rehabilitation Training and Research Hospital, Ankara, Turkey between September 2012 and April 2014 for the BoNT-A injection for lower limb spasticity...
October 2016: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
Pinar Akpinar, Arzu Atici, Feyza U Ozkan, Ilknur Aktas, Duygu G Kulcu, Kubra Neslihan Kurt
OBJECTIVE: To assess the reliability of the Spinal Cord Assessment Tool for Spastic Reflexes (SCATS). DESIGN: Observational reliability study of the SCATS . SETTING: Inpatient rehabilitation unit at an education and research hospital. PARTICIPANTS: This study included 47 subjects between the ages of 18 and 88 years with spinal cord injury, American Spinal Injury Association (ASIA) impairment scale grades from A to D with spasticity, and at least 6 months post injury...
October 12, 2016: Archives of Physical Medicine and Rehabilitation
Petra Marsico, Victoria Frontzek-Weps, Julia Balzer, Hubertus J A van Hedel
The Hypertonia Assessment Tool is a 7-item instrument that discriminates spasticity, dystonia, and rigidity on 3 levels: item scores, subtype, and hypertonia diagnosis for each extremity. We quantified the inter- and intrarater reliability using Kappa statistics, Gwet's first-order agreement coefficient (both with 95% confidence interval), and percentage agreement for all levels. For validity, we compared the Hypertonia Assessment Tool subtype with the clinical diagnosis provided by the physicians. Two physiotherapists tested 45 children with neuromotor disorders...
October 14, 2016: Journal of Child Neurology
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