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Neuromuscular dysfunction

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https://www.readbyqxmd.com/read/30119965/imaging-the-heart-to-detect-cardiomyopathy-in-duchenne-muscular-dystrophy-a-review
#1
REVIEW
Lisa C Power, Gina L O'Grady, Tim S Hornung, Craig Jefferies, Silmara Gusso, Paul L Hofman
Duchenne Muscular Dystrophy is the most common paediatric neuromuscular disorder. Mutations in the DMD gene on the X-chromosome result in progressive skeletal muscle weakness as the main clinical manifestation. However, cardiac muscle is also affected, with cardiomyopathy becoming an increasingly recognised cause of morbidity, and now the leading cause of mortality in this group. The diagnosis of cardiomyopathy has often been made late due to technical limitations in transthoracic echocardiograms and delayed symptomatology in less mobile patients...
June 6, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30114663/fasciculation-intensity-and-disease-progression-in-amyotrophic-lateral-sclerosis
#2
Jun Tsugawa, Thanuja Dharmadasa, Yan Ma, William Huynh, Steve Vucic, Matthew C Kiernan
OBJECTIVE: To investigate the association between the frequency and intensity of fasciculations with clinical measures of disease progression in amyotrophic lateral sclerosis (ALS). METHODS: Twenty-four consecutive patients with ALS underwent clinical review and neuromuscular ultrasound assessment to detect intensity of fasciculations. Results were correlated with clinical markers of disease severity, as measured by the ALS Functional Rating Scale-revised (ALSFRS-R) and rate of disease progression (ΔFS), in addition to assessment of cortical motor function...
August 2, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/30110014/-current-status-for-animal-models-of-intensive-care-unit-acquired-muscle-weakness
#3
Wenmao Zou, Furong Liu, Jinghui Li
Intensive care unit acquired muscle weakness (ICU-AW) is a neuromuscular complication secondary to severe illness. The essence for this disease is skeletal muscle dysfunction. With the development of medical technology, the survival rate for severe patients has been significantly improved. The long term complications for the severe patients with ICU-AW are getting more and more common, and they seriously affect the quality of life and prognosis of patients. However, the current treatment is ineffective. Establishment of ICU-AW animal model is an important way to study the pathogenesis and intervention targets for this disease...
June 28, 2018: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/30106673/a-high-definition-non-invasive-neuromuscular-electrical-stimulation-system-for-cortical-control-of-combinatorial-rotary-hand-movements-in-a-human-with-tetraplegia
#4
Nicholas Annetta, Jeffrey Friend, Andrew Schimmoeller, Vimal S Buck, David Friedenberg, Chad E Bouton, Marcia A Bockbrader, Patrick Ganzer, Sam Colachis, Mingming Zhang, W Jerry Mysiw, Ali R Rezai, Gaurav Sharma
OBJECTIVE: Paralysis resulting from spinal cord injury (SCI) can have a devastating effect on multiple arm and hand motor functions. Rotary hand movements, such as supination and pronation, are commonly impaired by upper extremity paralysis, and are essential for many activities of daily living. In this proof-of-concept study, we utilize a neural bypass system (NBS) to decode motor intention from motor cortex to control combinatorial rotary hand movements elicited through stimulation of the arm muscles, effectively bypassing the SCI of the study participant...
August 7, 2018: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/30098424/sarcopenia
#5
Anne Tournadre, Gaelle Vial, Frédéric Capel, Martin Soubrier, Yves Boirie
Sarcopenia is defined as a combination of low muscle mass with low muscle function. The term was first used to designate the loss of muscle mass and performance associated with aging. Now, recognized causes of sarcopenia also include chronic disease, a physically inactive lifestyle, loss of mobility, and malnutrition. Sarcopenia should be differentiated from cachexia, which is characterized not only by low muscle mass but also by weight loss and anorexia. Sarcopenia results from complex and interdependent pathophysiological mechanisms that include aging, physical inactivity, neuromuscular compromise, resistance to postprandial anabolism, insulin resistance, lipotoxicity, endocrine factors, oxidative stress, mitochondrial dysfunction, and inflammation...
August 8, 2018: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/30097477/nonataxia-symptoms-in-friedreich-ataxia-report-from-the-registry-of-the-european-friedreich-s-ataxia-consortium-for-translational-studies-efacts
#6
Kathrin Reetz, Imis Dogan, Christian Hohenfeld, Claire Didszun, Paola Giunti, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Jörg B Schulz
OBJECTIVE: To provide a systematic evaluation of the broad clinical variability in Friedreich ataxia (FRDA), a multisystem disorder presenting mainly with afferent ataxia but also a complex phenotype of nonataxia symptoms. METHODS: From the large database of the European Friedreich's Ataxia Consortium for Translational Studies, 650 patients with genetically confirmed FRDA were included. Detailed data of medical history documentation, questionnaires, and reports on clinical features were analyzed to provide in-depth description of the clinical profile and frequency rates of phenotypical features with a focus on differences between typical-onset and late-onset FRDA...
August 10, 2018: Neurology
https://www.readbyqxmd.com/read/30096161/characterization-of-drosophila-atpsync-mutants-as-a-new-model-of-mitochondrial-atp-synthase-disorders
#7
Domenica Lovero, Luca Giordano, René Massimiliano Marsano, Alvaro Sanchez-Martinez, Hadi Boukhatmi, Maik Drechsler, Marta Oliva, Alexander J Whitworth, Damiano Porcelli, Corrado Caggese
Mitochondrial disorders associated with genetic defects of the ATP synthase are among the most deleterious diseases of the neuromuscular system that primarily manifest in newborns. Nevertheless, the number of established animal models for the elucidation of the molecular mechanisms behind such pathologies is limited. In this paper, we target the Drosophila melanogaster gene encoding for the ATP synthase subunit c, ATPsynC, in order to create a fruit fly model for investigating defects in mitochondrial bioenergetics and to better understand the comprehensive pathological spectrum associated with mitochondrial ATP synthase dysfunctions...
2018: PloS One
https://www.readbyqxmd.com/read/30090685/clinical-decision-making-and-treatment-in-a-runner-with-hip-pain-and-neuromuscular-control-dysfunction-a-case-report
#8
C Nathan Vannatta, Matthew Haberl
Background and Purpose: The incidence of running related injuries remains high despite numerous efforts to understand the mechanical contributors to the etiology of these injuries. In light of continued running injury, theories of neuromuscular control, or movement patterns, have been suggested as possible contributors to running related injuries. However, the clinical decision making determining when altered neuromuscular control strategies may be affecting a runner's symptoms has not been described...
April 2018: International Journal of Sports Physical Therapy
https://www.readbyqxmd.com/read/30080908/pharmacological-characterization-of-crotamine-effects-on-mice-hind-limb-paralysis-employing-both-ex-vivo-and-in-vivo-assays-insights-into-the-involvement-of-voltage-gated-ion-channels-in-the-crotamine-action-on-skeletal-muscles
#9
Sunamita de Carvalho Lima, Lucas de Carvalho Porta, Álvaro da Costa Lima, Joana D'Arc Campeiro, Ywlliane Meurer, Nathália Bernardes Teixeira, Thiago Duarte, Eduardo Brandt Oliveira, Gisele Picolo, Rosely Oliveira Godinho, Regina Helena Silva, Mirian Akemi Furuie Hayashi
The high medical importance of Crotalus snakes is unquestionable, as this genus is the second in frequency of ophidian accidents in many countries, including Brazil. With a relative less complex composition compared to other genera venoms, as those from the Bothrops genus, the Crotalus genus venom from South America is composed basically by the neurotoxin crotoxin (a phospholipase A2), the thrombin-like gyroxin (a serinoprotease), a very potent aggregating protein convulxin, and a myotoxic polypeptide named crotamine...
August 6, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/30061431/protocol-for-a-phase-ii-monocentre-double-blind-placebo-controlled-cross-over-trial-to-assess-efficacy-of-pyridostigmine-in-patients-with-spinal-muscular-atrophy-types-2-4-space-trial
#10
Marloes Stam, Renske I Wadman, Camiel A Wijngaarde, Bart Bartels, Fay-Lynn Asselman, Louise A M Otto, H Stephan Goedee, Laura E Habets, Janke F de Groot, Marja A G C Schoenmakers, Inge Cuppen, Leonard H van den Berg, W Ludo van der Pol
INTRODUCTION: Hereditary proximal spinal muscular atrophy (SMA) is caused by homozygous loss of function of the survival motor neuron 1 gene. The main characteristic of SMA is degeneration of alpha motor neurons in the anterior horn of the spinal cord, but recent studies in animal models and patients have shown additional anatomical abnormalities and dysfunction of the neuromuscular junction (NMJ). NMJ dysfunction could contribute to symptoms of weakness and fatigability in patients with SMA...
July 30, 2018: BMJ Open
https://www.readbyqxmd.com/read/30051389/mitochondria-and-sex-specific-cardiac-function
#11
Rosa Vona, Barbara Ascione, Walter Malorni, Elisabetta Straface
The focus of this chapter is the gender differences in mitochondria in cardiovascular disease. There is broad evidence suggesting that some of the gender differences in cardiovascular outcome may be partially related to differences in mitochondrial biology (Ventura-Clapier R, Moulin M, Piquereau J, Lemaire C, Mericskay M, Veksler V, Garnier A, Clin Sci (Lond) 131(9):803-822, 2017)). Mitochondrial disorders are causally affected by mutations in either nuclear or mitochondrial genes involved in the synthesis of respiratory chain subunits or in their posttranslational control...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/30050493/-of-mice-and-men-advances-in-the-understanding-of-neuromuscular-aspects-of-myotonic-dystrophy
#12
REVIEW
Sandra O Braz, Julien Acquaire, Geneviève Gourdon, Mário Gomes-Pereira
Intensive effort has been directed toward the modeling of myotonic dystrophy (DM) in mice, in order to reproduce human disease and to provide useful tools to investigate molecular and cellular pathogenesis and test efficient therapies. Mouse models have contributed to dissect the multifaceted impact of the DM mutation in various tissues, cell types and in a pleiotropy of pathways, through the expression of toxic RNA transcripts. Changes in alternative splicing, transcription, translation, intracellular RNA localization, polyadenylation, miRNA metabolism and phosphorylation of disease intermediates have been described in different tissues...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/30041689/surgical-treatment-for-dropped-head-syndrome-with-cervical-spondylotic-amyotrophy-a-case-report
#13
Shinji Taniguchi, Hiroshi Takahashi, Yasuchika Aoki, Arata Nakajima, Fumiaki Terajima, Masato Sonobe, Yorikazu Akatsu, Manabu Yamada, Takeo Furuya, Masao Koda, Masashi Yamazaki, Seiji Ohtori, Koichi Nakagawa
BACKGROUND: Dropped head syndrome (DHS) is a flexion deformity of the neck that is caused by severe weakness of the neck extensor muscles. DHS occurs in combination with not only neuromuscular disorders, but also cervical spondylosis. However, there are few reports of DHS complicated by cervical spondylotic amyotrophy (CSA). Here we report a case of DHS with CSA in a patient who underwent surgical treatment. CASE PRESENTATION: A 79-year-old man became aware of dropped head and gait disturbance in addition to the paralysis of his right upper extremity...
July 24, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/30038839/evidence-based-procedures-for-performing-the-single-leg-squat-and-step-down-tests-in-evaluation-of-non-arthritic-hip-pain-a-literature-review
#14
Ryan P McGovern, RobRoy L Martin, John J Christoforetti, Benjamin R Kivlan
Background: Functional performance tests are commonly utilized in screening for injury prevention, evaluating for athletic injuries, and making return-to-play decisions. Two frequently performed functional performance tests are the single leg squat and step-down tests. Purpose: The purpose of this study was to systematically review the available psychometric evidence for use of the single leg squat and step-down tests for evaluating non-arthritic hip conditions and construct an evidence-based protocol for test administration...
June 2018: International Journal of Sports Physical Therapy
https://www.readbyqxmd.com/read/30025839/the-interaction-between-pain-and-movement
#15
Shannon L Merkle, Kathleen A Sluka, Laura A Frey-Law
STUDY DESIGN: Clinical commentary. INTRODUCTION/PURPOSE: Pain and movement are universally relevant phenomena that influence human experiences in readily observable ways. Improved understanding of pain-movement relationships can guide medical and rehabilitative approaches to recovery and decrease risk of dysfunctional long-term consequences of otherwise normal neuromuscular responses. Therefore, the overall intent of this article is to elucidate the relationships between pain and movement as they relate to clinical decision making...
July 16, 2018: Journal of Hand Therapy: Official Journal of the American Society of Hand Therapists
https://www.readbyqxmd.com/read/30017354/mitofusin-2-regulates-axonal-transport-of-calpastatin-to-prevent-neuromuscular-synaptic-elimination-in-skeletal-muscles
#16
Luwen Wang, Ju Gao, Jingyi Liu, Sandra L Siedlak, Sandy Torres, Hisashi Fujioka, Mikayla L Huntley, Yinfei Jiang, Haiyan Ji, Tingxiang Yan, Micah Harland, Pichet Termsarasab, Sophia Zeng, Zhen Jiang, Jingjing Liang, George Perry, Charles Hoppel, Cheng Zhang, Hu Li, Xinglong Wang
Skeletal muscles undergo atrophy in response to diseases and aging. Here we report that mitofusin 2 (Mfn2) acts as a dominant suppressor of neuromuscular synaptic loss to preserve skeletal muscles. Mfn2 is reduced in spinal cords of transgenic SOD1G93A and aged mice. Through preserving neuromuscular synapses, increasing neuronal Mfn2 prevents skeletal muscle wasting in both SOD1G93A and aged mice, whereas deletion of neuronal Mfn2 produces neuromuscular synaptic dysfunction and skeletal muscle atrophy. Neuromuscular synaptic loss after sciatic nerve transection can also be alleviated by Mfn2...
July 2, 2018: Cell Metabolism
https://www.readbyqxmd.com/read/30009380/association-of-ctla-4-polymorphisms-with-increased-risks-of-myasthenia-gravis
#17
Fang Li, Wuzhou Yuan, Xiushan Wu
Myasthenia gravis (MG) is considered to be a kind of autoimmune disorder resulting from dysfunction of neuromuscular transmission caused by autoantibodies against the nicotinic acetylcholine receptors. A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. Several recent reports have indicated that single nucleotide polymorphisms (SNPs) of CTLA-4, including rs733618, rs4553808, rs5742909, rs231775, and rs3087243 were associated with the risks of MG; however, the results were not consistent...
July 15, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/30001440/acute-respiratory-failure-in-children
#18
Matthew L Friedman, Mara E Nitu
This article reviews the definition, pathophysiology, etiology, assessment, and management of acute respiratory failure in children. Acute respiratory failure is the inability of the respiratory system to maintain oxygenation or eliminate carbon dioxide. Acute respiratory failure is a common cause for admission to a pediatric intensive care unit. Most causes of acute respiratory failure can be grouped into one of three categories: lung parenchymal disease, airway obstruction, or neuromuscular dysfunction. Many patients with acute respiratory failure are managed successfully with noninvasive respiratory support; however, in severe cases, patients may require intubation and mechanical ventilation...
July 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29990478/respiratory-failure-in-amyotrophic-lateral-sclerosis
#19
REVIEW
Shannon Niedermeyer, Michael Murn, Philip J Choi
Amyotrophic lateral sclerosis is a progressive neuromuscular disease characterized by both lower motor neuron and upper motor neuron dysfunction. While clinical presentations can vary, there is no cure for ALS and the disease is universally terminal, with most patients dying from respiratory complications. Patients die on average within 3-5 years of diagnosis, unless they choose to undergo tracheostomy, in which case, they may live on average 2 more years. Up to 95% with ALS in the United States choose not to undergo tracheostomy, so management of respiratory failure is aimed at both prolonging survival as well as improving quality of life...
July 7, 2018: Chest
https://www.readbyqxmd.com/read/29985724/effects-of-kinesio-taping-on-neuromuscular-performance-and-pain-of-individuals-affected-by-patellofemoral-pain-a-randomized-controlled-trial
#20
Samara Alencar Melo, Liane de Brito Macedo, Daniel Tezoni Borges, Jamilson Simões Brasileiro
Patellofemoral pain (PFP) is one of the most frequent musculoskeletal dysfunctions in the knee and its treatment is controversial. This study analyzed the effects of Kinesio Taping (KT) immediately and 72 hours after its application on the electromyographic (EMG) activity of the vastus medialis oblique (VMO) muscle, on the isokinetic performance of the quadriceps femoris and on the pain of subjects with PFP. Fifty-four participants were divided into three groups and performed one of the following protocols: (1) control group (CG)-remained at rest; (2) KT tension group (TG)-KT application with tension in the VMO region; and (3) KT without tension group (WTG)-KT application without tension in the same region...
July 9, 2018: Physiotherapy Theory and Practice
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