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Neuromuscular disease

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https://www.readbyqxmd.com/read/28088014/reduced-complexity-of-force-and-muscle-activity-during-low-level-isometric-contractions-of-the-ankle-in-diabetic-individuals
#1
E Y Suda, P Madeleine, R P Hirata, A Samani, T T Kawamura, I C N Sacco
BACKGROUND: This study evaluated the structure and amount of variability of surface electromyography (sEMG) patterns and ankle force data during low-level isometric contractions in diabetic subjects with different degrees of neuropathy. METHODS: We assessed 10 control subjects and 38 diabetic patients, classified as absent, mild, moderate, or severe neuropathy, by a fuzzy system based on clinical variables. Multichannel sEMG (64-electrode matrix) of tibialis anterior and gastrocnemius medialis muscles were acquired during isometric contractions at 10%, 20%, and 30% of the maximum voluntary contraction, and force levels during dorsi- and plantarflexion were recorded...
January 4, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/28079665/anesthetic-management-of-a-patient-with-antimuscle-specific-kinase-antibody-positive-myasthenia-gravis-undergoing-an-open-cholecystectomy-a-case-report
#2
Masahiko Akatsu, Yukihiro Ikegami, Choichiro Tase, Koichi Nishikawa
Myasthenia gravis (MG) is an autoimmune disease characterized by the production of antibodies against the acetylcholine receptor, muscle-specific kinase (MuSK), or other proteins at the neuromuscular junction. MG with antibodies against MuSK (MuSK-MG) has been described recently. Here, we report the first case of anesthetic management of a patient with MuSK-MG undergoing an open cholecystectomy. In our case, propofol and remifentanil-based anesthesia were used for successful management without using muscle relaxants...
January 11, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28079615/neuromuscular-weakness-in-chronic-obstructive-pulmonary-disease-chest-wall-diaphragm-and-peripheral-muscle-contributions
#3
Adam Alter, Loutfi S Aboussouan, Eduardo Mireles-Cabodevila
PURPOSE OF REVIEW: Chronic obstructive lung disease affects the lung parenchyma and airways leading to well described effects in respiratory function. This review describes the current knowledge and advances regarding neuromuscular function and chest wall mechanics, which are affected in chronic obstructive pulmonary disease (COPD). RECENT FINDINGS: In COPD, progressive lung hyperinflation becomes constrained by a chest wall with decreasing capacity to expand, resulting in respiratory muscle inefficiency...
January 11, 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#4
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078065/clinical-features-of-neuromuscular-disorders-in-patients-with-n-type-voltage-gated-calcium-channel-antibodies
#5
Andreas Totzeck, Petra Mummel, Oliver Kastrup, Tim Hagenacker
Neuromuscular junction disorders affect the pre- or postsynaptic nerve to muscle transmission due to autoimmune antibodies. Members of the group like myasthenia gravis and Lambert-Eaton syndrome have pathophysiologically distinct characteristics. However, in practice, distinction may be difficult. We present a series of three patients with a myasthenic syndrome, dropped-head syndrome, bulbar and respiratory muscle weakness and positive testing for anti-N-type voltage-gated calcium channel antibodies. In two cases anti-acetylcholin receptor antibodies were elevated, anti-P/Q-type voltage-gated calcium channel antibodies were negative...
September 15, 2016: European Journal of Translational Myology
https://www.readbyqxmd.com/read/28077491/sphingosine-1-phosphate-lyase-deficiency-causes-charcot-marie-tooth-neuropathy
#6
Derek Atkinson, Jelena Nikodinovic Glumac, Bob Asselbergh, Biljana Ermanoska, David Blocquel, Regula Steiner, Alejandro Estrada-Cuzcano, Kristien Peeters, Tinne Ooms, Els De Vriendt, Xiang-Lei Yang, Thorsten Hornemann, Vedrana Milic Rasic, Albena Jordanova
OBJECTIVE: To identify the unknown genetic cause in a nuclear family with an axonal form of peripheral neuropathy and atypical disease course. METHODS: Detailed neurologic, electrophysiologic, and neuropathologic examinations of the patients were performed. Whole exome sequencing of both affected individuals was done. The effect of the identified sequence variations was investigated at cDNA and protein level in patient-derived lymphoblasts. The plasma sphingoid base profile was analyzed...
January 11, 2017: Neurology
https://www.readbyqxmd.com/read/28075489/cough-augmentation-techniques-for-extubation-or-weaning-critically-ill-patients-from-mechanical-ventilation
#7
REVIEW
Louise Rose, Neill Kj Adhikari, David Leasa, Dean A Fergusson, Douglas McKim
BACKGROUND: There are various reasons why weaning and extubation failure occur, but ineffective cough and secretion retention can play a significant role. Cough augmentation techniques, such as lung volume recruitment or manually- and mechanically-assisted cough, are used to prevent and manage respiratory complications associated with chronic conditions, particularly neuromuscular disease, and may improve short- and long-term outcomes for people with acute respiratory failure. However, the role of cough augmentation to facilitate extubation and prevent post-extubation respiratory failure is unclear...
January 11, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28074267/reduced-serum-myostatin-concentrations-associated-with-genetic-muscle-disease-progression
#8
Peter M Burch, Oksana Pogoryelova, Joe Palandra, Richard Goldstein, Donald Bennett, Lori Fitz, Michela Guglieri, Chiara Marini Bettolo, Volker Straub, Teresinha Evangelista, Hendrik Neubert, Hanns Lochmüller, Carl Morris
Myostatin is a highly conserved protein secreted primarily from skeletal muscle that can potently suppress muscle growth. This ability to regulate skeletal muscle mass has sparked intense interest in the development of anti-myostatin therapies for a wide array of muscle disorders including sarcopenia, cachexia and genetic neuromuscular diseases. While a number of studies have examined the circulating myostatin concentrations in healthy and sarcopenic populations, very little data are available from inherited muscle disease patients...
January 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28072465/splicing-regulation-and-dysregulation-of-cholinergic-genes-expressed-at-the-neuromuscular-junction
#9
REVIEW
Kinji Ohno, Mohammad Alinoor Rahman, Mohammad Nazim, Farhana Nasrin, Yingni Lin, Jun-Ichi Takeda, Akio Masuda
We humans have evolved by acquiring diversity of alternative RNA metabolisms including alternative means of splicing and transcribing non-coding genes, and not by acquiring new coding genes. Tissue-specific and developmental stage-specific alternative RNA splicing is achieved by tightly regulated spatiotemporal regulation of expressions and activations of RNA-binding proteins that recognize their cognate splicing cis-elements on nascent RNA transcripts. Genes expressed at the neuromuscular junction (NMJ) are also alternatively spliced...
January 10, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28070671/place-of-death-of-children-with-complex-chronic-conditions-cross-national-study-of-11-countries
#10
Cecilia Håkanson, Joakim Öhlén, Ulrika Kreicbergs, Marylou Cardenas-Turanzas, Donna M Wilson, Martin Loucka, Sandra Frache, Lucia Giovannetti, Wayne Naylor, YongJoo Rhee, Miguel Ruiz Ramos, Joan Teno, Kim Beernaert, Luc Deliens, Dirk Houttekier, Joachim Cohen
: Cross-national understanding of place of death is crucial for health service systems for their provision of efficient and equal access to paediatric palliative care. The objectives of this population-level study were to examine where children with complex chronic conditions (CCC) die and to investigate associations between places of death and sex, cause of death and country. The study used death certificate data of all deceased 1- to 17-year-old children (n = 40,624) who died in 2008, in 11 European and non-European countries...
January 9, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28070484/deep-learning-predictions-of-survival-based-on-mri-in-amyotrophic-lateral-sclerosis
#11
Hannelore K van der Burgh, Ruben Schmidt, Henk-Jan Westeneng, Marcel A de Reus, Leonard H van den Berg, Martijn P van den Heuvel
Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease, with large variation in survival between patients. Currently, it remains rather difficult to predict survival based on clinical parameters alone. Here, we set out to use clinical characteristics in combination with MRI data to predict survival of ALS patients using deep learning, a machine learning technique highly effective in a broad range of big-data analyses. A group of 135 ALS patients was included from whom high-resolution diffusion-weighted and T1-weighted images were acquired at the first visit to the outpatient clinic...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28068376/an-objective-functional-characterisation-of-head-movement-impairment-in-individuals-with-neck-muscle-weakness-due-to-amyotrophic-lateral-sclerosis
#12
Silvia Pancani, Wendy Tindale, Pamela J Shaw, Christopher J McDermott, Claudia Mazzà
BACKGROUND: Neck muscle weakness and head drop are well recognised in patients with Amyotrophic lateral sclerosis (ALS), but an objective characterisation of the consequent head movement impairment is lacking. The aim of this study was to quantitatively characterise head movements in ALS compared to aged matched controls. METHODS: We evaluated two groups, one of thirteen patients with ALS and one of thirteen age-matched controls, during the execution of a series of controlled head movements, performed while wearing two inertial sensors attached on the forehead and sternum, respectively...
2017: PloS One
https://www.readbyqxmd.com/read/28067943/gamma-aminobutyric-acid-gaba-modulators-for-amyotrophic-lateral-sclerosis-motor-neuron-disease
#13
REVIEW
Andrea Diana, Rita Pillai, Paolo Bongioanni, Aidan G O'Keeffe, Robert G Miller, Dan H Moore
BACKGROUND: Imbalance of gamma aminobutyric acid (GABA) and related modulators has been implicated as an important factor in the pathogenesis of amyotrophic lateral sclerosis (ALS), which is also known as motor neuron disease (MND). In this context, the role and mechanism of action of gabapentin and baclofen have been extensively investigated, although with conflicting results. This is the first systematic review to assess clinical trials of GABA modulators for the treatment of ALS. OBJECTIVES: To examine the efficacy of gabapentin, baclofen, or other GABA modulators in delaying the progression of ALS, and to evaluate adverse effects of these interventions...
January 9, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28065847/a-drosophila-model-of-gdap1-function-reveals-the-involvement-of-insulin-signalling-in-the-mitochondria-dependent-neuromuscular-degeneration
#14
Víctor López Del Amo, Martina Palomino-Schätzlein, Marta Seco-Cervera, José Luis García-Giménez, Federico Vicente Pallardó, Antonio Pineda-Lucena, Máximo Ibo Galindo
Charcot-Marie-Tooth disease is a rare peripheral neuropathy for which there is no specific treatment. Some forms of Charcot-Marie-Tooth are due to mutations in the GDAP1 gene. A striking feature of mutations in GDAP1 is that they have a variable clinical manifestation, according to disease onset and progression, histology and mode of inheritance. Studies in cellular and animal models have revealed a role of GDAP1 in mitochondrial morphology and distribution, calcium homeostasis and oxidative stress. To get a better understanding of the disease mechanism we have generated models of over-expression and RNA interference of the Drosophila Gdap1 gene...
January 5, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28062220/sleep-lung-function-and-quality-of-life-in-patients-with-myasthenia-gravis-a-cross-sectional-study
#15
Ezequiel Fernandes Oliveira, Sergio Roberto Nacif, Jessica Julioti Urbano, Anderson Soares Silva, Claudia Santos Oliveira, Eduardo Araujo Perez, Melissa Nunes Polaro, Berenice Cataldo Oliveira Valerio, Roberto Stirbulov, Giuseppe Insalaco, Acary Sousa Bulle Oliveira, Luis Vicente Franco Oliveira
The purpose of this study was to investigate the physiological variables of lung function, respiratory muscle strength, and sleep in clinically stable patients with myasthenia gravis. This was a prospective cross-sectional study conducted in accordance with the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement. Patients adhering to the eligibility criteria were consecutively recruited from the Research Department of Neuromuscular Diseases at the Federal University of Sao Paulo and the Department of Neurology at Santa Casa de Misericordia of Sao Paulo and were referred to the Nove de Julho University Sleep Laboratory (Sao Paulo, Brazil)...
November 25, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28060254/quantitative-magnetic-resonance-imaging-of-skeletal-muscle-disease
#16
Bruce M Damon, Ke Li, Richard D Dortch, E Brian Welch, Jane H Park, Amanda K W Buck, Theodore F Towse, Mark D Does, Daniel F Gochberg, Nathan D Bryant
Quantitative magnetic resonance imaging (qMRI) describes the development and use of MRI to quantify physical, chemical, and/or biological properties of living systems. Neuromuscular diseases often exhibit a temporally varying, spatially heterogeneous, and multi-faceted pathology. The goal of this protocol is to characterize this pathology using qMRI methods. The MRI acquisition protocol begins with localizer images (used to locate the position of the body and tissue of interest within the MRI system), quality control measurements of relevant magnetic field distributions, and structural imaging for general anatomical characterization...
December 18, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28056494/sensitivity-distribution-simulations-of-surface-electrode-configurations-for-electrical-impedance-myography
#17
Seward Rutkove, Adam Pacheck, Benjamin Sanchez
OBJECTIVE: Surface-based electrical impedance myography (EIM) is sensitive to muscle condition in neuromuscular disorders. However, the specific contribution of muscle to the obtained EIM values is unknown. METHODS: We combined theory and the finite element method to calculate the electrical current distribution in a three-dimensional model using different electrode array designs and subcutaneous fat thicknesses (SFT). Through a sensitivity analysis, we decoupled the contribution of muscle from other surrounding tissues in the measured surface impedance values...
January 5, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28053302/polymyositis-without-beneficial-response-to-steroid-therapy-should-miyoshi-myopathy-be-a-differential-diagnosis
#18
Renata Siciliani Scalco, Paulo José Lorenzoni, David S Lynch, William Alves Martins, Heinz Jungbluth, Ros Quinlivan, Jefferson Becker, Henry Houlden
BACKGROUND Miyoshi myopathy (MM) is an autosomal-recessive muscle disorder caused by mutations in the DYSF gene. Clinical features and histopathological changes in dysferlinopathies may mimic inflammatory myopathies and a high degree of clinical suspicion is required to guide the genetic investigation. CASE REPORT We report the case of a 16-year-old male who presented with severe bilateral calf pain and elevated CK levels (15 000 IU/l) who was on prolonged steroid therapy prompted by the clinical suspicion of inflammatory myopathy...
January 5, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28053031/muscle-fibers-secrete-fgfbp1-to-slow-degeneration-of-neuromuscular-synapses-during-aging-and-progression-of-als
#19
Thomas Taetzsch, Milagros J Tenga, Gregorio Valdez
: The identity of muscle secreted factors critical for the development and maintenance of neuromuscular junctions (NMJs) remains largely unknown. Here, we show that muscle fibers secrete and concentrate the fibroblast growth factor binding protein 1 (FGFBP1) at NMJs. Although FGFBP1 expression increases during development, its expression decreases before NMJ degeneration during aging and in SOD1(G93A) mice, a mouse model for amyotrophic lateral sclerosis (ALS). Based on these findings, we examined the impact of deleting FGFBP1 on NMJs...
January 4, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28049716/sideroflexin-3-is-a-%C3%AE-synuclein-dependent-mitochondrial-protein-that-regulates-synaptic-morphology
#20
Inês S Amorim, Laura C Graham, Roderick N Carter, Nicholas M Morton, Fella Hammachi, Tilo Kunath, Giuseppa Pennetta, Sarah M Carpanini, Jean C Manson, Douglas J Lamont, Thomas M Wishart, Thomas H Gillingwater
α-synuclein plays a central role in Parkinson's disease, where it contributes to the vulnerability of synapses to degeneration. However, the downstream mechanisms through which α-synuclein controls synaptic stability and degeneration are not fully understood. Here, comparative proteomics on synapses isolated from α-synuclein(-/-) mouse brain identified mitochondrial proteins as primary targets of α-synuclein, revealing 37 mitochondrial proteins not previously linked to α-synuclein or neurodegeneration pathways...
January 3, 2017: Journal of Cell Science
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