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https://www.readbyqxmd.com/read/29221912/variable-clinical-phenotype-in-two-siblings-with-aicardi-gouti%C3%A3-res-syndrome-type-6-and-a-novel-mutation-in-the-adar-gene
#1
Lisa Schmelzer, Martin Smitka, Christine Wolf, Nadja Lucas, Victoria Tüngler, Gabriele Hahn, Andreas Tzschach, Nataliya Di Donato, Min Ae Lee-Kirsch, Maja von der Hagen
Aicardi-Goutières syndrome (AGS) is a hereditary inflammatory encephalopathy resulting in severe neurological damage in the majority of cases. We report on two siblings with AGS6 due to compound heterozygosity for a known and a novel mutation in the ADAR gene and a strikingly variable phenotype. The first sibling presented at 12 months of age with a subacute encephalopathy following a mild respiratory infection. The child developed a spastic tetraparesis, generalized dystonia and dysarthria. In contrast, the younger sibling presented with an acute episode of neurological impairment in his third year of life, from which he recovered without sequelae within a few weeks...
November 22, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29218232/the-role-of-neurectomy-in-the-management-of-spasticity-of-the-upper-limb
#2
Petros Mikalef, Dominic Power
Neurectomy is one of the treatments available to the surgeon treating patients with spasticity of the upper limb.Its popularity has increased in recent years.Accurate knowledge of the anatomical variations of the terminal branches to the muscles is required in order to achieve a successful outcome.Although the anatomy has been thoroughly studied, there are still controversies regarding the percentage of the nerve to be resected for a successful result, and also regarding the terminology that has been used in the literature to describe the procedure...
November 2017: EFORT Open Reviews
https://www.readbyqxmd.com/read/29217360/sonographic-findings-of-painful-hemiplegic-shoulder-after-stroke
#3
Pei-Hsin Lin
BACKGROUND: Hemiplegic shoulder pain is common in stroke patients and can influence rehabilitation outcome. The underlying pathology can be various: in addition to impaired motor control and altered peripheral and central nervous activity, soft tissue lesions may also play an important role. It remains unclear how these pathologies may interact or correlate with each other. METHODS: This retrospective study collected data from 26 stroke patients who received sonography examination due to shoulder pain...
December 4, 2017: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/29215095/homozygosity-for-a-nonsense-variant-in-aimp2-is-associated-with-a-progressive-neurodevelopmental-disorder-with-microcephaly-seizures-and-spastic-quadriparesis
#4
Anju Shukla, Aneek Das Bhowmik, Malavika Hebbar, Kadavigere V Rajagopal, Katta M Girisha, Neerja Gupta, Ashwin Dalal
We ascertained two unrelated consanguineous families with two affected children each having microcephaly, refractory seizures, intellectual disability, and spastic quadriparesis. Magnetic resonance imaging showed atrophy of cerebrum, cerebellum and spinal cord, prominent cisterna magna, symmetric T2 hypo-intensities in the bilateral basal ganglia and thinning of corpus callosum. Whole-exome sequencing of three affected individuals revealed c.105C>A [p.(Tyr35Ter)] variant in AIMP2. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29214587/rare-neurodegenerative-diseases-clinical-and-genetic-update
#5
Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Sara Morais, Jorge Sequeiros, Isabel Alonso, Víctor Volpini, Carmen Serrano-Munuera, Guillem Pintos-Morell, Ramiro Álvarez, Ivelisse Sánchez
More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity in the central nervous system. They include Alzheimer's disease and other less frequent dementias, brain cancer, degenerative nerve diseases, encephalitis, epilepsy, genetic brain disorders, head and brain malformations, hydrocephalus, stroke, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis (ALS or Lou Gehrig's Disease), Huntington's disease, and Prion diseases, among others...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29209961/finite-element-analysis-of-the-wrist-in-stroke-patients-the-effects-of-hand-grip
#6
Muhammad Hanif Ramlee, Gan Kok Beng, Nazri Bajuri, Mohammed Rafiq Abdul Kadir
The provision of the most suitable rehabilitation treatment for stroke patient remains an ongoing challenge for clinicians. Fully understanding the pathomechanics of the upper limb will allow doctors to assist patients with physiotherapy treatment that will aid in full arm recovery. A biomechanical study was therefore conducted using the finite element (FE) method. A three-dimensional (3D) model of the human wrist was reconstructed using computed tomography (CT)-scanned images. A stroke model was constructed based on pathological problems, i...
December 5, 2017: Medical & Biological Engineering & Computing
https://www.readbyqxmd.com/read/29209898/clinical-application-of-next-generation-sequencing-in-hereditary-spinocerebellar-ataxia-increasing-the-diagnostic-yield-and-broadening-the-ataxia-spasticity-spectrum-a-retrospective-analysis
#7
REVIEW
Daniele Galatolo, Alessandra Tessa, Alessandro Filla, Filippo M Santorelli
One of the hardest challenges in medical genetics is to reach a molecular diagnosis in the presence of rare brain disorders. Hereditary spinocerebellar ataxia (HA), characterized by high clinical and genetic heterogeneity, is among the diseases that present this challenge. HA can have features overlapping with those of other neurological diseases, especially hereditary spastic paraplegia (HSP), as routine clinical application of next generation sequencing (NGS) has confirmed. This article reviews different NGS methods applied in heterogeneous cohorts of patients with suspected HA and suggests that exome sequencing should be considered the first-tier genetic approach in this setting...
December 6, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29208537/comprehensive-evaluation-of-the-learning-curve-for-peroral-endoscopic-myotomy
#8
Zuqiang Liu, Xiaocen Zhang, Wei Zhang, Yiqun Zhang, Weifeng Chen, Wenzheng Qin, Jianwei Hu, Mingyan Cai, Pinghong Zhou, Quanlin Li
BACKGROUND & AIMS: Peroral endoscopic myotomy (POEM) is a minimally invasive endoscopic surgical procedure that is effective in treatment for spastic esophageal motility disorders. However, little is known about the learning curve for endoscopists. We aimed to evaluate the effects of various factors on the POEM learning curve. METHODS: We performed a retrospective study of 1346 patients who underwent POEM for achalasia at Shanghai Zhongshan Hospital in China from August 2010 through July 2015...
December 2, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29207820/relationship-between-trunk-control-and-balance-in-children-with-spastic-cerebral-palsy-a-cross-sectional-study
#9
Sivatejaa Panibatla, Vijaya Kumar, Amitesh Narayan
Introduction: Trunk control is impaired in children with Cerebral Palsy (CP) thus influencing their functional balance. However, there is a paucity of literature determining the relationship between trunk control and balance in children with CP. Aim: To find the relationship between trunk control and balance by means of Trunk Control Measurement Scale (TCMS) and Paediatric Balance Scale (PBS). Materials and Methods: Twenty four children {age range 8-14 years, Gross Motor Function Classification System (GMFCS) Level I-III} with spastic CP were recruited and evaluated using TCMS and PBS...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29207797/audit-of-organic-acidurias-from-a-single-centre-clinical-and-metabolic-profile-at-presentation-with-long-term-outcome
#10
Seema Pavaman Sindgikar, Krithika Damodar Shenoy, Nutan Kamath, Rathika Shenoy
Introduction: Organic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors of Metabolism (IEM) in India. With prompt recognition and management, better survival but adverse neurodevelopmental outcome is reported. Aim: To study the clinical and metabolic presentation, management with immediate and long term outcome of symptomatic children with confirmed OA. Materials and Methods: Hospital based study of symptomatic children diagnosed to have OA between 2003 and 2009 and the survivors followed up over next five years...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29206272/influence-of-transcutaneous-electrical-nerve-stimulation-on-spasticity-balance-and-walking-speed-in-stroke-patients-a-systematic-review-and-meta-analysis
#11
Mohammad Etoom
No abstract text is available yet for this article.
December 4, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29205982/spasticity-or-periodic-limb-movements
#12
Jonathan Levy, Sarah Hartley, Elsa Mauruc-Soubirac, Antoine Leotard, Frederic Lofaso, Maria-Antonia Quera-Salva, Djamel Bensmail
BACKGROUND: Spasticity and spasms are distressing features of the upper motor neuron syndrome (UMNS) following spinal cord injuries (SCI) or multiple sclerosis (MS), and have common therapeutic implications. Despite an increase of antispastic drugs and strategies, sometimes up to the surgical implant of intrathecal baclofen pump, some patients still complain of disabling spasms, which poses diagnostic and therapeutic challenges. Although clinically similar, flexor spasms due to pyramidal tract disruption must be clearly differentiated from periodic limb movements (PLM), often accompanying restless leg syndrome (RLS) and occurring during sleep...
December 4, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29205472/progressive-deafness-dystonia-due-to-serac1-mutations-a-study-of-67-cases
#13
Saskia B Wortmann, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K Chung, Roberto Colombo, Niklas Darin, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grunewald, Tobias B Haack, Peter M van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A Mayr, Patricia McClean, Linda De Meirleir, Karin Naess, Lock H Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa Riley, Benjamin Roeben, Frank Rutsch, Rene Santer, Manuel Schiff, Martine Seders, Silvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W Taylor, Joanna Trubicka, Konstantinos Tsiakas, Ozlem Unal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Eva Morava, Ewa Pronicka, Ron A Wevers, Arjan P de Brouwer, Roeltje R Maas
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings. RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 years, median age 9 years)...
December 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29202845/robotic-assisted-gait-as-a-tool-for-rehabilitation-of-individuals-with-spinal-cord-injury-a-systematic-review
#14
REVIEW
Ledycnarf J Holanda, Patrícia M M Silva, Thiago C Amorim, Matheus O Lacerda, Camila R Simão, Edgard Morya
BACKGROUND: Spinal cord injury (SCI) is characterized by a total or partial deficit of sensory and motor pathways. Impairments of this injury compromise muscle recruitment and motor planning, thus reducing functional capacity. SCI patients commonly present psychological, intestinal, urinary, osteomioarticular, tegumentary, cardiorespiratory and neural alterations that aggravate in chronic phase. One of the neurorehabilitation goals is the restoration of these abilities by favoring improvement in the quality of life and functional independence...
December 4, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/29202792/the-cc-chemokine-ligand-ccl-1-upregulated-by-the-viral-transactivator-tax-can-be-downregulated-by-minocycline-possible-implications-for-long-term-treatment-of-htlv-1-associated-myelopathy-tropical-spastic-paraparesis
#15
Mineki Saito, Hiroe Sejima, Tadasuke Naito, Hiroshi Ushirogawa, Toshio Matsuzaki, Eiji Matsuura, Yuetsu Tanaka, Tatsufumi Nakamura, Hiroshi Takashima
BACKGROUND: Chemokine (C-C motif) ligand 1 (CCL1) is produced by activated monocytes/ macrophages and T-lymphocytes, and acts as a potent attractant for Th2 cells and a subset of T-regulatory (Treg) cells. Previous reports have indicated that CCL1 is overexpressed in adult T-cell leukemia cells, mediating an autocrine anti-apoptotic loop. Because CCL1 is also known as a potent chemoattractant that plays a major role in inflammatory processes, we investigated the role of CCL1 in the pathogenesis of human T-cell leukemia virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP)...
December 4, 2017: Virology Journal
https://www.readbyqxmd.com/read/29200616/electromyographic-analysis-of-constraint-induced-movement-therapy-effects-in-patients-after-stroke-in-chronic-course
#16
Mariéle Marchezan Zarantonello, Marco Antonio Stefani, João Carlos Comel
[Purpose] The purpose is to analyze the effects of Constraint-induced Movement Therapy in post stroke patients in chronic course. [Subjects and Methods] This is a Quasi-experiment study and the adopted protocol consisted of a three-hour therapy for ten consecutive working days applied to a constraint intact upper limb. Surface Electromyography, Motor Activity Log, Wolf Motor Function Test and Functional Independence Measure were used for evaluating the experiment. [Results] The individuals showed reduction in the degree of spasticity, confirmed by Surface Electromyography...
November 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/29200489/flexion-deformities-of-the-wrist-and-fingers-in-spastic-cerebral-palsy-a-protocol-of-management
#17
Tarek Hassan Abdelaziz, Shady Samir Elbeshry, Mahmoud Mahran, Ahmad Saeed Aly
Background: Literature is confusing regarding grading and treatment of flexion deformities of wrist and fingers in spastic cerebral palsy (CP). The most established classification is that described by Zancolli; unfortunately, it has its shortcomings which we experienced in the beginning of our approach to manage this rather difficult deformity. We thus modified Zancolli's classification and developed a classification system and treatment protocol. Materials and Methods: Thirty patients with spastic CP were operated upon due to flexion deformity of the wrist and fingers and were included in this study...
November 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/29197788/effects-of-antagonistic-and-synergistic-muscles-co-activation-on-mechanics-of-activated-spastic-semitendinosus-in-children-with-cerebral-palsy
#18
Filiz Ateş, Yener Temelli, Can A Yucesoy
OBJECTIVES: Most activities involve co-activation of several muscles and epimuscular myofascial force transmission (EMFT) can affect their mechanics. This can be relevant for spastic muscles of cerebral palsy (CP) patients. Isometric spastic semitendinosus (ST) forces vs. knee angle (KA-FST) data were collected intra-operatively to test the following hypotheses: (i) Inter-antagonistic EMFT elevates FST, (ii) changes the shape of KA-FST characteristics, (iii) reduces the muscle's joint range of force exertion (Range-FST) and (iv) combined inter-antagonistic and synergistic EMFT further changes those effects...
November 30, 2017: Human Movement Science
https://www.readbyqxmd.com/read/29193663/clinical-and-genetic-characterization-of-ap4b1-associated-spg47
#19
Darius Ebrahimi-Fakhari, Chi Cheng, Kira Dies, Amelia Diplock, Danielle B Pier, Conor S Ryan, Brendan C Lanpher, Jennifer Hirst, Wendy K Chung, Mustafa Sahin, Elisabeth Rosser, Basil Darras, James T Bennett
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by degeneration of the corticospinal and spinocerebellar tracts leading to progressive spasticity. One subtype, spastic paraplegia type 47 (SPG47 or HSP-AP4B1), is due to bi-allelic loss-of-function mutations in the AP4B1 gene. AP4B1 is a subunit of the adapter protein complex 4 (AP-4), a heterotetrameric protein complex that regulates the transport of membrane proteins. Since 2011, 11 individuals from six families with AP4B1 mutations have been reported, nine of whom had homozygous mutations and were from consanguineous families...
November 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29192855/early-outcomes-after-intrathecal-baclofen-therapy-in-ambulatory-patients-with-multiple-sclerosis
#20
Bryan S Lee, Jaes Jones, Min Lang, Rebecca Achey, Lu Dai, Darlene A Lobel, Sean J Nagel, Andre G Machado, Francois Bethoux
OBJECTIVE Multiple sclerosis (MS) is a chronic autoimmune disease that causes demyelination and axonal loss. Walking difficulties are a common and debilitating symptom of MS; they are usually caused by spastic paresis of the lower extremities. Although intrathecal baclofen (ITB) therapy has been reported to be an effective treatment for spasticity in MS, there is limited published evidence regarding its effects on ambulation. The goal of this study was to characterize ITB therapy outcomes in ambulatory patients with MS...
December 1, 2017: Journal of Neurosurgery
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