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lower limb sma

Atsushi Nanashima, Naoya Imamura, Yuki Tsuchimochi, Takeomi Hamada, Kouichi Yano, Masahide Hiyoshi, Yoshiro Fujii, Fumiaki Kawano, MitsuruTamura
INTRODUCTION: This case report is intended to inform acute care surgeons about treating rare horizontal laceration of the pancreas head caused by blunt trauma. CASE PRESENTATION: A 57-year-old woman who sustained blunt abdominal trauma during a car crash was transported to the emergency center of our hospital with unstable vital signs due to hemorrhagic shock. Computed tomography showed transection of the pancreas head and massive intra-abdominal hemorrhage. She was referred for emergency surgery because of a transient response...
2017: International Journal of Surgery Case Reports
Zhe Wang, Qihua Chen, Qiuxiang Li, Fangfang Bi
Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron disease with significant phenotypic viability. Here, we present a genetically identified SBMA family without bulbar paralysis or androgen insensitivity. All four male patients presented with progressive lower motor neuron paralysis in all limbs, with distal extremities more dominant. None of them had bulbar palsy or androgen insensitivity. A consistently mild elevated blood creatine phosphokinase (CPK) levels were detected in all patients and the EMG showed a chronic neurogenic damage...
October 28, 2016: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
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...
November 2016: Neuromuscular Disorders: NMD
Sebastien G M Uzel, Randall J Platt, Vidya Subramanian, Taylor M Pearl, Christopher J Rowlands, Vincent Chan, Laurie A Boyer, Peter T C So, Roger D Kamm
Motor units are the fundamental elements responsible for muscle movement. They are formed by lower motor neurons and their muscle targets, synapsed via neuromuscular junctions (NMJs). The loss of NMJs in neurodegenerative disorders (such as amyotrophic lateral sclerosis or spinal muscle atrophy) or as a result of traumatic injuries affects millions of lives each year. Developing in vitro assays that closely recapitulate the physiology of neuromuscular tissues is crucial to understand the formation and maturation of NMJs, as well as to help unravel the mechanisms leading to their degeneration and repair...
August 2016: Science Advances
Yu-Ting Tseng, Cheng-Sheng Chen, Yuh-Jyh Jong, Fang-Rong Chang, Yi-Ching Lo
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by motor neurons degeneration and muscular atrophy. There is no effective SMA treatment. Loganin is a botanical candidate with anti-inflammatory, anti-oxidant, glucose-lowering and anti-diabetic nephropathy activities. The aim of this study is to investigate the potential protective effects of loganin on SMA using two cellular models, SMN-deficient NSC34 cells and SMA patient fibroblasts, and an animal disease model, SMAΔ7 mice...
September 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
T Lyytinen, T Bragge, M Hakkarainen, T Liikavainio, P A Karjalainen, J P Arokoski
OBJECTIVES: To determine the repeatability of knee joint impulsive loading measurements with skin-mounted accelerometers (SMAs) and lower limb surface electromyography (EMG) recordings during gait. METHODS: Triaxial SMA and EMG from 4 muscles during level and stair walking in nine healthy and nine knee osteoarthritis (OA) subjects were used. The initial peak acceleration (IPA), root mean square (RMS), maximal acceleration transient rate (ATRmax) and mean EMG activity (EMGact) were calculated...
March 2016: Journal of Musculoskeletal & Neuronal Interactions
Tomáš Veverka, Petr Hluštík, Pavel Hok, Pavel Otruba, Jana Zapletalová, Zbyněk Tüdös, Alois Krobot, Petr Kaňovský
INTRODUCTION: In post-stroke spasticity, functional imaging may uncover modulation in the central sensorimotor networks associated with botulinum toxin type A (BoNT) therapy. Investigations were performed to localize brain activation changes in stroke patients treated with BoNT for upper limb spasticity using functional magnetic resonance imaging (fMRI). METHODS: Seven ischemic stroke patients (4 females; mean age 58.86) with severe hand paralysis and notable spasticity were studied...
March 15, 2016: Journal of the Neurological Sciences
Keshav Gupta, Shashank Sood, Jayesh Modi, Rajiv Gupta
Hirayama disease, also known as Sobue disease is a rare nonprogressive spinal muscular atrophy. Here, we report a case series of three young males presenting with atrophy of distal upper limb and Hirayama disease as their clinico-radiological diagnosis. Magnetic resonance imaging (MRI) revealed loss of cervical lordosis with focal areas of lower cervical cord atrophy in a neutral position. MRI in flexion position revealed, anterior displacement of the detached posterior dura from the underlying lamina compressing the thecal sac and widened posterior epidural space with flow voids seen better on 3D-CISS images...
January 2016: Journal of Neurosciences in Rural Practice
Chiara Pranteda, Danilo Menna, Laura Capoccia, Pasqualino Sirignano, Wassim Mansour, Francesco Speziale
The coral reef aorta (CRA) is a rare syndrome commonly referred to a distribution of calcified plaques in the visceral part of the aorta. Because those plaques can cause malperfusion of the lower limbs, visceral ischemia or renovascular hypertension, surgical treatment is recommended. Transaortic endarterectomy is accepted as a standard repair and it is often performed through an extensive thoracoabdominal approach. CRA has been reported in association with polidistrectual atherosclerotic disease, such as Leriche syndrome...
April 2016: Annals of Vascular Surgery
Justin D Wagner, Lijia Huang, Martine Tetreault, Jacek Majewski, Kym M Boycott, Dennis E Bulman, David A Dyment, Hugh J McMillan
Charcot-Marie-Tooth disease is a group of genetically heterogeneous disorders characterized by a sensorimotor polyneuropathy with subsequent muscle atrophy, areflexia, and sensory loss. More than 60 genes have been linked to Charcot-Marie-Tooth phenotypes, including IGHMBP2. Until recently, mutations in IGHMBP2 were exclusively associated with spinal muscular atrophy with respiratory distress (SMARD1). We present a sibling pair with a novel homozygous truncating mutation in IGHMBP2. The patients presented with childhood-onset distal weakness, wasting in the upper and lower limbs, areflexia and decreased sensation, but no respiratory involvement...
October 2015: Neuromuscular Disorders: NMD
Simone Pittaccio, Lorenzo Garavaglia, Carlo Ceriotti, Francesca Passaretti
Shape memory alloys (SMAs) are a very promising class of metallic materials that display interesting nonlinear properties, such as pseudoelasticity (PE), shape memory effect (SME) and damping capacity, due to high mechanical hysteresis and internal friction. Our group has applied SMA in the field of neuromuscular rehabilitation, designing some new devices based on the mentioned SMA properties: in particular, a new type of orthosis for spastic limb repositioning, which allows residual voluntary movement of the impaired limb and has no predetermined final target position, but follows and supports muscular elongation in a dynamic and compliant way...
2015: Journal of Functional Biomaterials
Naotoshi Iwahara, Shin Hisahara, Takashi Hayashi, Jun Kawamata, Shun Shimohama
BACKGROUND: Mutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies. Only one report of spinal muscular atrophy and cardiomyopathy phenotype with lamin A/C gene mutations has been published. The concept that lamin A/C gene mutations cause spinal muscular atrophy has not been established. CASE PRESENTATION: We report a man aged 65 years who presented with amyotrophy of lower limbs, arrhythmia and cardiac hypofunction...
2015: BMC Neurology
Kevin C Chun, Eugene S Lee
Popliteal artery aneurysms (PAAs) occur in approximately 1 of every 100 men ages 65 to 80 years. They can occur bilaterally, and abdominal aortic aneurysm is simultaneously present in 50% of cases. Therefore, patients with PAAs should undergo ultrasonography to exclude abdominal aortic aneurysms and contralateral PAAs. The main risk of PAAs is thrombus/embolus formation causing lower limb ischemia. Any symptomatic PAA or PAA containing a thrombus should be repaired regardless of size. Asymptomatic PAAs should be considered for repair if the diameter is 2 cm or greater...
April 2015: FP Essentials
Naotoshi Iwahara, Shin Hisahara, Takashi Hayashi, Jun Kawamata, Shun Shimohama
BACKGROUND: Mutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies. Only one report of spinal muscular atrophy and cardiomyopathy phenotype with lamin A/C gene mutations has been published. The concept that lamin A/C gene mutations cause spinal muscular atrophy has not been established. CASE PRESENTATION: We report a man aged 65 years who presented with amyotrophy of lower limbs, arrhythmia and cardiac hypofunction...
December 2015: BMC Neurology
Zsolt Turóczi, András Fülöp, Zoltán Czigány, Gabriella Varga, Oliver Rosero, Tünde Tökés, József Kaszaki, Gábor Lotz, László Harsányi, Attila Szijártó
BACKGROUND: Major lower limb vascular surgeries may result in severe, remote injury of the gastrointestinal system, which has high mortality rates. Postconditioning is a technique with potential capability of reducing remote gastrointestinal complications. Our aim was to assess the remote macro- and micro-hemodynamic changes of the small intestine following an infrarenal aortic occlusion and to evaluate the effects of postconditioning on these alterations. METHODS: Rats underwent 3h of infrarenal aortic occlusion followed by 4h of reperfusion...
March 2015: Microvascular Research
Mariacristina Scoto, Alexander M Rossor, Matthew B Harms, Sebahattin Cirak, Mattia Calissano, Stephanie Robb, Adnan Y Manzur, Amaia Martínez Arroyo, Aida Rodriguez Sanz, Sahar Mansour, Penny Fallon, Irene Hadjikoumi, Andrea Klein, Michele Yang, Marianne De Visser, W C G Truus Overweg-Plandsoen, Frank Baas, J Paul Taylor, Michael Benatar, Anne M Connolly, Muhammad T Al-Lozi, John Nixon, Christian G E L de Goede, A Reghan Foley, Catherine Mcwilliam, Matthew Pitt, Caroline Sewry, Rahul Phadke, Majid Hafezparast, W K Kling Chong, Eugenio Mercuri, Robert H Baloh, Mary M Reilly, Francesco Muntoni
OBJECTIVE: To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene. METHODS: Patients with a phenotype suggestive of a motor, non-length-dependent neuronopathy predominantly affecting the lower limbs were identified at participating neuromuscular centers and referred for targeted sequencing of DYNC1H1. RESULTS: We report a cohort of 30 cases of SMA-LED from 16 families, carrying mutations in the tail and motor domains of DYNC1H1, including 10 novel mutations...
February 17, 2015: Neurology
Alexander M Rossor, Emily C Oates, Hannah K Salter, Yang Liu, Sinead M Murphy, Rebecca Schule, Michael A Gonzalez, Mariacristina Scoto, Rahul Phadke, Caroline A Sewry, Henry Houlden, Albena Jordanova, Iyailo Tournev, Teodora Chamova, Ivan Litvinenko, Stephan Zuchner, David N Herrmann, Julian Blake, Janet E Sowden, Gyuda Acsadi, Michael L Rodriguez, Manoj P Menezes, Nigel F Clarke, Michaela Auer Grumbach, Simon L Bullock, Francesco Muntoni, Mary M Reilly, Kathryn N North
Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in SMN1 on chromosome 5q. Cases without SMN1 mutations are subclassified according to phenotype. Spinal muscular atrophy, lower extremity-predominant, is characterized by lower limb muscle weakness and wasting, associated with reduced numbers of lumbar motor neurons and is caused by mutations in DYNC1H1, which encodes a microtubule motor protein in the dynein-dynactin complex and one of its cargo adaptors, BICD2...
February 2015: Brain: a Journal of Neurology
Tülin Savaş, Ilknur Erol, Yasemin Özkale, Semra Saygi
Spinal muscular atrophies are genetic disorders in which anterior horn cells in the spinal cord and motor nuclei of the brainstem are progressively lost. We present a patient with arthrogryposis due to congenital spinal muscular atrophy predominantly affecting the upper limbs. Spinal muscular atrophies with onset at birth may be a cause of arthrogryposis. Localized forms of neurogenic arthrogryposis have been divided into cervical and caudal forms. Our case is similar to the cases described by Hageman et al (J Neurol Neurosurg Psychiatry 1993;56:365-368): severe symmetric lower motor neuron deficit in the upper extremities at the time of birth, no history of injury to the cervical spinal cord or the brachial plexus during delivery, and severe muscle wasting suggesting chronic denervation in utero...
March 2015: Journal of Child Neurology
Hadi Moein, Carlo Menon
BACKGROUND: Disorders associated with excessive swelling of the lower extremities are common. They can be associated with pain, varicose veins, reduced blood pressure when standing and may cause syncope or fainting. The common physical remedy to these disorders is the use of compression stockings and pneumatic compression leg massagers, which both attempt to limit blood pooling and capillary filtration in the lower limbs. However, compression stockings provide a constant pressure, and their efficiency has been challenged according to some recent studies...
2014: Biomedical Engineering Online
Nobuaki Mizuguchi, Hiroki Nakata, Kazuyuki Kanosue
We utilized functional magnetic resonance imaging (fMRI) to evaluate the common brain region of motor imagery for the right and left upper and lower limbs. The subjects were instructed to repeatedly imagined extension and flexion of the right or left hands/ankles. Brain regions, which included the supplemental motor area (SMA), premotor cortex and parietal cortex, were activated during motor imagery. Conjunction analysis revealed that the left SMA and inferior frontal gyrus (IFG)/ventral premotor cortex (vPM) were commonly activated with motor imagery of the right hand, left hand, right foot, and left foot...
October 3, 2014: Neuroscience Letters
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