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https://www.readbyqxmd.com/read/28650581/deficiency-of-wars2-encoding-mitochondrial-tryptophanyl-trna-synthetase-causes-severe-infantile-onset-leukoencephalopathy
#1
Benjamin E Theisen, Anastasia Rumyantseva, Julie S Cohen, Wendy A Alcaraz, Deepali N Shinde, Sha Tang, Siddarth Srivastava, Jonathan Pevsner, Aleksandra Trifunovic, Ali Fatemi
Pathogenic variants in the mitochondrial aminoacyl tRNA synthetases lead to deficiencies in mitochondrial protein synthesis and are associated with a broad range of clinical presentations usually with early onset and inherited in an autosomal recessive manner. Of the 19 mitochondrial aminoacyl tRNA synthetases, WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, was as of late the only one that had not been associated with disease in humans. A case of a family with pathogenic variants in WARS2 that caused mainly intellectual disability, speech impairment, aggressiveness, and athetosis was recently reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28650240/development-of-a-clinical-spasticity-scale-for-evaluation-of-dogs-with-chronic-thoracolumbar-spinal-cord-injury
#2
Melissa J Lewis, Natasha J Olby
OBJECTIVE To develop a spasticity scale for dogs with chronic deficits following severe spinal cord injury (SCI) for use in clinical assessment and outcome measurement in clinical trials. ANIMALS 20 chronically paralyzed dogs with a persistent lack of hind limb pain perception caused by an acute SCI at least 3 months previously. PROCEDURES Spasticity was assessed in both hind limbs via tests of muscle tone, clonus, and flexor and extensor spasms adapted from human scales. Measurement of patellar clonus duration and flexor spasm duration and degree was feasible...
July 2017: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/28649479/functional-outcomes-of-childhood-selective-dorsal-rhizotomy-20-to-28-years-later
#3
T S Park, Jenny L Liu, Caleb Edwards, Deanna M Walter, Matthew B Dobbs
BACKGROUND: Selective dorsal rhizotomy (SDR) is a surgical method used to treat childhood spastic cerebral palsy (CP). However, the effects of early SDR on functional outcomes and quality of life decades later in adulthood remains to be elucidated. OBJECTIVES: To evaluate the long-term outcomes in terms of satisfaction and mobility of adult patients who received childhood SDR. METHODS: Adult patients who received SDR in childhood were surveyed...
May 17, 2017: Curēus
https://www.readbyqxmd.com/read/28648091/mediators-go-together-high-production-of-cxcl9-cxcl10-ifn-%C3%AE-and-tnf-%C3%AE-in-ham-tsp
#4
Heytor Victor Pereira da Costa Neco, Vanessa Gabryelle da Silva Teixeira, Ana Carolina Lemos da Trindade, Paula Machado Ribeiro Magalhães, Virgínia Maria Barros de Lorena, Lúcio Roberto Cançado Castellano, Joelma Rodrigues de Souza, Luydson Richardson Vasconcelos, Patrícia Muniz Mendes Freire de Moura, Clarice Neuenschwander Lins de Morais
HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic demyelinating and disabling syndrome caused by HTLV-1. Although the pathogenic mechanisms that lead to HAM/TSP outcome have not been elucidated, genetic and immunological factors may be involved in the myelopathy occurrence. The present study aimed to compare cytokines, chemokines and nitric oxide levels in asymptomatic and HAM/TSP HTLV-1 infected patients. The study group consisted of 21 HAM/TSP and 48 asymptomatic HTLV-1 patients...
June 24, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28646841/effect-of-extracorporeal-shock-wave-therapy-on-lower-limb-spasticity-in-stroke-patients
#5
Parisa Taheri, Babak Vahdatpour, Maryam Mellat, Fereshteh Ashtari, Mojtaba Akbari
BACKGROUND: This study aims to evaluate the effect of extracorporeal shock wave therapy (ESWT) on lower limb spasticity in stroke patients. METHODS: Twenty-eight eligible patients with ankle plantar flexor spasticity were randomly assigned to two groups. ESWT group received 1 session per week for 3 weeks of ESWT along with oral anti-spastic medications and stretching exercises. The control group received only oral anti-spastic medications and stretching exercises similar to ESWT group...
June 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28645943/the-structure-of-the-tetanus-toxin-reveals-ph-mediated-domain-dynamics
#6
Geoffrey Masuyer, Julian Conrad, Pål Stenmark
The tetanus neurotoxin (TeNT) is a highly potent toxin produced by Clostridium tetani that inhibits neurotransmission of inhibitory interneurons, causing spastic paralysis in the tetanus disease. TeNT differs from the other clostridial neurotoxins by its unique ability to target the central nervous system by retrograde axonal transport. The crystal structure of the tetanus toxin reveals a "closed" domain arrangement stabilised by two disulphide bridges, and the molecular details of the toxin's interaction with its polysaccharide receptor...
June 23, 2017: EMBO Reports
https://www.readbyqxmd.com/read/28644548/repetitive-peripheral-magnetic-stimulation-for-activities-of-daily-living-and-functional-ability-in-people-after-stroke
#7
REVIEW
Ryo Momosaki, Naoki Yamada, Erika Ota, Masahiro Abo
BACKGROUND: Repetitive peripheral magnetic stimulation (rPMS) is a form of therapy that creates painless stimulation of deep muscle structures to improve motor function in people with physical impairment from brain or nerve disorders. Use of rPMS for people after stroke has been identified as a feasible approach to improve activities of daily living and functional ability. However, no systematic reviews have assessed the findings of available trials. The effect and safety of this intervention for people after stroke currently remain uncertain...
June 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28641445/subcutaneous-botulinum-toxin-injection-for-post-thoracotomy-pain-syndrome-in-palliative-care-a-case-report
#8
Saima Rashid, Amanda R Fields, Steven J Baumrucker
Post-thoracotomy pain syndrome (PTPS) is a traumatic neuropathy that can affect as many as 50% of patients undergoing thoracotomy. Patients are often refractory to conservative management and may require multiple analgesics for adequate pain control. Botulinum toxin, derived from Clostridium botulinum, has many uses in treating conditions involving spasticity, dystonia, chronic migraine, and a variety of pain disorders including neuropathies. Botulinum toxin type A injections may provide an alternative or adjunct to improve symptom management in patients with PTPS...
January 1, 2017: American Journal of Hospice & Palliative Care
https://www.readbyqxmd.com/read/28641177/a-30-year-history-of-mpan-case-from-russia
#9
M Selikhova, E Fedotova, S Wiethoff, L V Schottlaender, S Klyushnikov, S N Illarioshkin, H Houlden
We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.
June 2, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28638151/the-crystal-structure-of-human-rogdi-provides-insight-into-the-causes-of-kohlschutter-t%C3%A3-nz-syndrome
#10
Hakbong Lee, Hanbin Jeong, Joonho Choe, Youngsoo Jun, Chunghun Lim, Changwook Lee
Kohlschutter-Tönz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset characterized by global developmental delay, spasticity, epilepsy, and amelogenesis imperfecta. Rogdi, an essential protein, is highly conserved across metazoans, and mutations in Rogdi are linked to KTS. However, how certain mutations in Rogdi abolish its physiological functions and cause KTS is not known. In this study, we determined the crystal structure of human Rogdi protein at atomic resolution. Rogdi forms a novel elongated curved structure comprising the α domain, a leucine-zipper-like four-helix bundle, and a characteristic β-sheet domain...
June 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28634003/spasticity-video-challenge-a-look-at-methods-for-addressing-difficult-cases
#11
Katharine E Alter, Mark Gormley, Atul T Patel
As seen in this CME online activity (available at http://courses.elseviercme.com/spasticity/662e), treatment of patients with spasticity due to upper motor neuron syndromes, including traumatic brain injury, stroke, and cerebral palsy, is multifaceted, involving chemodenervation, systemic medications, surgical therapy, rehabilitation efforts, and home care. Optimal care begins with the recognition that each patient's impairments are unique and must be assessed carefully to determine the impact of muscle overactivity, loss of dexterity, and weakness on passive and active function in the context of the patients' goals...
June 19, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28634000/dose-dependent-effects-of-abobotulinumtoxina-dysport%C3%A2-on-spasticity-and-active-movements-in-adults-with-upper-limb-spasticity-secondary-analysis-of-a-phase-3-study
#12
Michael W O'Dell, Allison Brashear, Robert Jech, Thierry Lejeune, Philippe Marque, Djamel Bensmail, Ziyad Ayyoub, David M Simpson, Magali Volteau, Claire Vilain, Philippe Picaut, Jean Michel Gracies
BACKGROUND: AbobotulinumtoxinA has beneficial effects on spasticity and active movements in hemiparetic adults with upper limb spasticity (ULS). However, evidence-based information on optimal dosing for clinical use is limited. OBJECTIVE: To describe joint-specific dose effects of abobotulinumtoxinA in adults with ULS. DESIGN: Secondary analysis of a phase 3 study (NCT01313299). SETTING: Multi-center, international, double-blind, placebo-controlled clinical trial...
June 17, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28632467/effects-of-a-single-session-of-transcranial-direct-current-stimulation-on-upper-limb-movements-in-children-with-cerebral-palsy-a-randomized-sham-controlled-study
#13
Renata Calhes Franco Moura, Cibele Santos, Luanda Collange Grecco, Giorgio Albertini, Veronica Cimolin, Manuela Galli, Claudia Oliveira
INTRODUCTION: Motor impairment in children with spastic hemiparetic cerebral palsy (CP) is generally more prominent in the affected upper limb, leading to limitations in hand function stemming from deficiencies in motor coordination and selective motor control as well as muscle weakness, slower execution of movements and deficient integration of sensory-motor information. OBJECTIVE: Determine the effect of a single session of anodal transcranial direct current stimulation (tDCS) combined with functional training on the spatiotemporal variables of upper arm movements in children with spastic hemiparesis...
February 25, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28630259/triacylglycerol-mimetics-regulate-membrane-interactions-of-glycogen-branching-enzyme-implications-for-therapy
#14
Rafael Alvarez, Jesús Casas, David J López, Maitane Ibarguren, Ariadna Suari-Rivera, Silvia Terés, Francisca Guardiola-Serrano, Alexander Lossos, Xavier Busquets, Or Kakhlon, Pablo V Escribá
Adult Polyglucosan Body Disease (APBD) is a neurological disorder characterized by adult-onset neurogenic bladder, spasticity, weakness, and sensory loss. The disease is caused by aberrant glycogen branching enzyme (GBE1-Y329S) yielding less branched, globular and soluble glycogen which tends to aggregate. We explore here whether, despite being a soluble enzyme, GBE1 activity is regulated by protein-membrane interactions. Since soluble proteins can contact a wide variety of cell membranes, we investigated the interactions of purified wild-type and Y329S GBE1 proteins with different types of model membranes (liposomes)...
June 19, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28629806/prevalence-of-bleeding-complications-following-ultrasound-guided-botulinum-toxin-injections-in-patiens-on-anticoagulation-or-antiplatelet-therapy
#15
Jeffrey Lavallee, Regan Royer, Geoffrey Smith
BACKGROUND: Patients on anticoagulation or antiplatelet therapy may be at higher risk of bleeding complications following intramuscular chemodenervation injections. Musculoskeletal ultrasound may be able to reduce the risk of bleeding complications by providing real time visualization of vascular structures and post-injection monitoring. Limited data exist addressing risk of bleeding complications following ultrasound-guided botulinum neurotoxin intramuscular chemodenervation procedures in the setting of anticoagulation or antiplatelet therapy...
June 16, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28629570/the-association-between-multiple-sclerosis-and-spondylosis-when-and-why
#16
Vasileios G Xydis, Anastasia K Zikou, Vassiliki Kostadima, Loukas G Astrakas, Paraskevi Kosta, Maria I Argyropoulou
OBJECTIVES: To evaluate risk factors for the development of cervical spine spondylosis (CSS) in patients with multiple sclerosis (MS) and to propose a pathogenetic mechanism. METHODS: Forty-two consecutive patients aged 23-66 years with MS and 42 age and sex matched controls were evaluated retrospectively; Clinical disability was evaluated with the expanded disability status scale (EDSS) and spasticity with the Asworth score. Total brain lesion volume (BLV), total grey matter (GM) volume and deep GM volume were assessed...
June 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28629415/kaps-kinematic-assessment-of-passive-stretch-a-tool-to-assess-elbow-flexor-and-extensor-spasticity-after-stroke-using-a-robotic-exoskeleton
#17
Andrew Centen, Catherine R Lowrey, Stephen H Scott, Ting-Ting Yeh, George Mochizuki
BACKGROUND: Spasticity is a common sequela of stroke. Traditional assessment methods include relatively coarse scales that may not capture all characteristics of elevated muscle tone. Thus, the aim of this study was to develop a tool to quantitatively assess post-stroke spasticity in the upper extremity. METHODS: Ninety-six healthy individuals and 46 individuals with stroke participated in this study. The kinematic assessment of passive stretch (KAPS) protocol consisted of passive elbow stretch in flexion and extension across an 80° range in 5 movement durations...
June 19, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28628539/effects-of-an-off-axis-pivoting-elliptical-training-program-on-gait-function-in-persons-with-spastic-cerebral-palsy-a-preliminary-study
#18
Liang-Ching Tsai, Yupeng Ren, Deborah J Gaebler-Spira, Gadi A Revivo, Li-Qun Zhang
This preliminary study examined the effects of off-axis elliptical training on reducing transverse-plane gait deviations and improving gait function in 8 individuals with cerebral palsy (CP) (15.5 ± 4.1 years) who completed an training program using a custom-made elliptical trainer that allows transverse-plane pivoting of the footplates during exercise. Lower-extremity off-axis control during elliptical exercise was evaluated by quantifying the root-mean-square and maximal angular displacement of the footplate pivoting angle...
July 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28626794/febrile-ataxia-and-myokymia-broaden-the-spg26-hereditary-spastic-paraplegia-phenotype
#19
Rubina Dad, Susan Walker, Stephen W Scherer, Muhammad Jawad Hassan, Mohammad Domaia Alghamdi, Berge A Minassian, Reem A Alkhater
No abstract text is available yet for this article.
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28626478/comparative-effects-of-chronic-administrations-of-gabapentin-pregabalin-and-baclofen-on-rat-memory-using-object-recognition-test
#20
Asma Salimzade, Ali Hosseini-Sharifabad, Mohammad Rabbani
Memory impairment is one of the greatest concerns when it comes to long-term CNS-affecting drug administration. Drugs like gabapentin, pregabalin and baclofen are administered in a long-term period in conditions such as epilepsy, neuropathic pain, spasticity associated with spinal cord injury or multiple sclerosis. Despite their wide spread use, few data are available on the effects of these drugs on cognitive functions, such as learning memory. In the present study, the effects of long-term administration of gabapentin, pregabalin and baclofen on memory were investigated in a comparative manner...
June 2017: Research in Pharmaceutical Sciences
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