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Neuromuscular dysfunction

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https://www.readbyqxmd.com/read/30308070/association-of-dysfunctional-breathing-with-health-related-quality-of-life-a-cross-sectional-study-in-a-young-population
#1
Ji-Myung Ok, Young-Bae Park, Young-Jae Park
Symptomatic hyperventilation (SH) is a pathological condition that manifests with breathlessness, dyspnea, light-headedness, anxiety, and paresthesia. However, little is known about the prevalence of SH and its association with health-related quality of life (HRQoL) in a young population. The Nijmegen questionnaire (NQ), which measures severity of SH, had not previously been cross-culturally translated into Korean. In this study, the NQ was cross-culturally translated into Korean (KNQ), using translation and back-translation methods...
2018: PloS One
https://www.readbyqxmd.com/read/30290607/winged-scapula-caused-by-dorsal-scapular-neuropathy-combined-with-suprascapular-neuropathy-a-case-report
#2
Sung Young Lee, Hyeok Dong Lee, Young-Shin Cho, Seung Hoon Han
RATIONALE: Scapular winging is caused by neuromuscular dysfunction of shoulder stabilizer muscles. Clinically, a winged scapula can be easily diagnosed by typical physical findings. We report a case of atypical winged scapula caused by dorsal scapular neuropathy combined with suprascapular neuropathy, which has rarely been reported. PATIENT CONCERNS: A 25-year-old right-handed male was admitted to the clinic due to right arm weakness for 1 year. On physical examination, right winged scapula with medially rotated inferior angle was observed on flexion...
October 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30290270/single-copy-expression-of-an-amyotrophic-lateral-sclerosis-linked-tdp-43-mutation-m337v-in-bac-transgenic-mice-leads-to-altered-stress-granule-dynamics-and-progressive-motor-dysfunction
#3
David Gordon, Ruxandra Dafinca, Jakub Scaber, Javier Alegre-Abarrategui, Lucy Farrimond, Connor Scott, Daniel Biggs, Louisa Kent, Peter L Oliver, Benjamin Davies, Olaf Ansorge, Richard Wade-Martins, Kevin Talbot
Mutations in the gene encoding the RNA-binding protein TDP-43 cause amyotrophic lateral sclerosis (ALS), clinically and pathologically indistinguishable from the majority of 'sporadic' cases of ALS, establishing altered TDP-43 function and distribution as a primary mechanism of neurodegeneration. Transgenic mouse models in which TDP-43 is overexpressed only partially recapitulate the key cellular pathology of human ALS, but may also lead to non-specific toxicity. To avoid the potentially confounding effects of overexpression, and to maintain regulated spatio-temporal and cell-specific expression, we generated mice in which an 80 kb genomic fragment containing the intact human TDP-43 locus (either TDP-43WT or TDP-43M337V ) and its regulatory regions was integrated into the Rosa26 (Gt(ROSA26)Sor) locus in a single copy...
October 2, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/30286033/enhancing-autophagy-protects-against-sepsis-induced-neuromuscular-dysfunction-associated-with-qualitative-changes-to-acetylcholine-receptors
#4
Jing-Yuan Chen, Su Min, Fei Xie, Jun Yang, Xin Wang
Sepsis-induced myopathy is a heavy burden for patients during respiratory failure as well as after discharge, which could be characterized with qualitative changes to nAChR in a rat model of sepsis, regulated by NRG-1. Autophagy is an innate immune defense mechanism against microbial challenges. We found neuromuscular dysfunction in anterior tibial muscle of male Sprague-Dawley rats 24 h after cecal ligation and puncture (CLP). CLP resulted in increased systemic and local inflammation in anterior tibial muscle tissue...
October 3, 2018: Shock
https://www.readbyqxmd.com/read/30269419/the-sympathetic-nervous-system-regulates-skeletal-muscle-motor-innervation-and-acetylcholine-receptor-stability
#5
Anna C Zaia Rodrigues, Maria Laura Messi, Zhong-Min Wang, Martin C Abba, Andrea Pereyra, Alexander Birbrair, Tan Zhang, Meaghan O'Meara, Ping Kwan, Elsa I S Lopez, Monte S Willis, Akiva Mintz, D Clark Files, Cristina Furdui, Ronald W Oppenheim, Osvaldo Delbono
AIM: Symptoms of autonomic failure are frequently the presentation of advanced age and neurodegenerative diseases that impair adaptation to common physiologic stressors. The aim of this work is to examine the interaction between the sympathetic and motor nervous system, the involvement of the sympathetic nervous system (SNS) in neuromuscular junction (NMJ) presynaptic motor function, the stability of postsynaptic molecular organization, and the skeletal muscle composition and function...
September 30, 2018: Acta Physiologica
https://www.readbyqxmd.com/read/30261920/estimation-of-the-diaphragm-neuromuscular-efficiency-index-in-mechanically-ventilated-critically-ill-patients
#6
Diana Jansen, Annemijn H Jonkman, Lisanne Roesthuis, Suvarna Gadgil, Johannes G van der Hoeven, Gert-Jan J Scheffer, Armand Girbes, Jonne Doorduin, Christer S Sinderby, Leo M A Heunks
BACKGROUND: Diaphragm dysfunction develops frequently in ventilated intensive care unit (ICU) patients. Both disuse atrophy (ventilator over-assist) and high respiratory muscle effort (ventilator under-assist) seem to be involved. A strong rationale exists to monitor diaphragm effort and titrate support to maintain respiratory muscle activity within physiological limits. Diaphragm electromyography is used to quantify breathing effort and has been correlated with transdiaphragmatic pressure and esophageal pressure...
September 27, 2018: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/30261032/prediction-of-organophosphorus-insecticide-induced-intermediate-syndrome-with-stimulated-concentric-needle-single-fibre-electromyography
#7
Chanika Alahakoon, Tharaka L Dassanayake, Indika B Gawarammana, E Michael Sedgwick, Vajira S Weerasinghe, Ahmed Abdalla, Michael S Roberts, Nicholas A Buckley
BACKGROUND: Deliberate self-poisoning (DSP) using organophosphorus (OP) insecticides are a common clinical problem in Asia. OPs inhibit acetylcholine esterase (AChE), leading to over-activity of muscarinic and nicotinic cholinergic circuits. Intermediate syndrome (IMS) is mediated via prolonged nicotinic receptor stimulation at the neuromuscular junction and its onset is between 24-96 hours post ingestion. The aims of the present study were 1) to investigate whether neuromuscular junction dysfunction within the first 24 hours following exposure, quantified by jitter in single fibre electromyography (SfEMG), can predict IMS, and 2) to compare the changes in SfEMG jitter over the course of the illness among patients who developed IMS (IMS+) and those who did not (IMS-)...
2018: PloS One
https://www.readbyqxmd.com/read/30255242/dysfunction-of-neuromuscular-synapses-in-the-genetic-model-of-alzheimer-s-disease
#8
M A Mukhamedyarov, P N Grigor'ev, E A Ushanova, T L Zefirov, A V Leushina, A L Zefirov
The function of synaptic transmission and presynaptic vesicular cycle in the neuromuscular synapses of the diaphragm was studied in transgenic APP/PS1 mice (Alzheimer's disease model). The decrease in the quantal content of end-plate potential, intense depression of the amplitude of terminal plate potentials under conditions of lasting high frequency stimulation (50 Hz), a drastic prolongation of the synaptic vesicle recycling time in APP/PS1 mice in comparison with wild type mice were detected. Manifest dysfunction of the neuromuscular synapses, caused by disordered neurosecretion and recycling of the synaptic vesicles in the presynaptic nerve endings, was detected in the Alzheimer's disease model on transgenic APP/PS1 mice...
September 2018: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/30254622/herpes-simplex-virus-type-1-engages-toll-like-receptor-2-to-recruit-macrophages-during-infection-of-enteric-neurons
#9
Paola Brun, Melania Scarpa, Chiara Marchiori, Jessica Conti, Andromachi Kotsafti, Andrea Porzionato, Raffaele De Caro, Marco Scarpa, Arianna Calistri, Ignazio Castagliuolo
Herpes simplex virus type 1 (HSV-1) is a widespread neurotropic pathogen responsible for a range of clinical manifestations. Inflammatory cell infiltrate is a common feature of HSV-1 infections and has been implicated in neurodegeneration. Therefore, viral recognition by innate immune receptors (i.e., TLR2) and the subsequent inflammatory response are now deemed key players in HSV-1 pathogenesis. In this study we infected with HSV-1 the enteric nervous system (ENS) of wild-type (WT) and TLR2 knock-out (TLR2ko ) mice to investigate whether and how TLR2 participates in HSV-1 induced neuromuscular dysfunction...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/30248690/-dystrophic-and-non-dystrophic-myotonias
#10
Federica Montagnese, Benedikt Schoser
Myotonic syndromes are rare neuromuscular diseases characterized by the clinical or neurophysiological detection of myotonia. The genetic defects involve primarily or secondarily the muscular isoforms of the ion channels. The channel dysfunction consecutively leads to a hyper-excitability of the muscle membrane and the clinical symptom myotonia. Two forms of dystrophic myotonic diseases are currently known: the myotonic dystrophy type 1 (DM1) and the myotonic dystrophy type 2 (DM2). They are multisystemic diseases clinically characterized by a combination of myotonia and other muscular symptoms (muscle weakness, wasting and myalgia) together with the involvement of other organs and systems (cataract, diabetes, heart diseases, hormone dysfunctions)...
September 2018: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/30235676/effectiveness-of-neuromuscular-electrical-stimulation-for-wrist-rehabilitation-after-acute-ischemic-stroke
#11
Xiao-Xian Guo, Bai-Ya Fan, Yan-Yang Mao
This study investigated the effectiveness of neuromuscular electrical stimulation (NMES) for patients with wrist dysfunction after acute ischemic stroke (AIS).A total of 82 patient cases with wrist dysfunction after AIS were selected in this study. Of these, 41 cases in the intervention group received physical training and NMES treatment. The other 41 cases in the control group received physical training only. The primary outcome was measured by Action Research Arm Test (ARAT) score. The secondary outcomes were measured by the Barthel Index (BI), and numerical rating scale (NRS)...
September 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30228975/analysis-of-gbe1-mutations-via-protein-expression-studies-in-glycogen-storage-disease-type-iv-a-report-on-a-non-progressive-form-with-a-literature-review
#12
Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi
Background: Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include non-progressive form (NP-GSD IV) and adult polyglucosan body disease (APBD). Thus far, only one clinical case of a patient with compound heterozygous mutations has been reported for the molecular analysis of NP-GSD IV. This study aimed to elucidate the molecular basis in a NP-GSD IV patient via protein expression analysis and to obtain a clearer genotype-phenotype relationship in GSD IV...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30223993/the-pathophysiology-of-neuromuscular-dysfunction-in-critical-illness
#13
REVIEW
Matteo Parotto, Jane Batt, Margaret Herridge
Disability after critical illness is heterogeneous and related to multiple morbidities. Muscle and nerve injury represent prevalent and important determinants of long-term disability. As the population ages and accrues a greater burden of comorbid illness and medical complexity, those patients admitted to an intensive care unit will be challenged in their recovery because of diminished organ reserve and variable tissue resiliency. This represents a significant burgeoning public health concern. This article presents a brief overview of the pathophysiology and the emerging basic science of neuromuscular dysfunction in critical illness...
October 2018: Critical Care Clinics
https://www.readbyqxmd.com/read/30215026/stimulated-single-fiber-electromyography-ssfemg-in-lambert-eaton-syndrome
#14
Vincenzo Todisco, Giovanni Cirillo, Rocco Capuano, Alessandro d'Ambrosio, Gioacchino Tedeschi, Antonio Gallo
Objective: To report the clinical features and the neurophysiological approach of a patient with Lambert-Eaton myasthenic syndrome (LEMS), highlighting the diagnostic role of the stimulated single fiber electromyography (sSFEMG). Case report: A 60-year-old woman presenting with the LEMS triad (proximal and axial weakness, autonomic dysfunction and areflexia) was evaluated by neurophysiological tests (electroneuromyography, repetitive stimulation test (TSR), voluntary and stimulated SFEMG)...
2018: Clinical Neurophysiology Practice
https://www.readbyqxmd.com/read/30195955/gravity-fluid-flow-more-accurately-reflects-joint-fluid-pressure-compared-with-commercial-peristaltic-pump-systems-in-a-cadaveric-model
#15
Meredith Mayo, Ryan Wolsky, Todd Baldini, Peter S Vezeridis, Jonathan T Bravman
PURPOSE: To evaluate intra-articular fluid pressures and joint compliance generated by fluid management systems on cadaveric shoulders and knees under simulated arthroscopic conditions, and to compare joint compliance between knee and shoulder specimens. METHODS: Intra-articular pressures of 5 cadaver shoulders and 5 knees were recorded for 4 arthroscopic pumps (Stryker FloControl, Stryker CrossFlow, Arthrex DualWave, DePuy Mitek FMS Duo) and a gravity feed system...
September 5, 2018: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/30179684/brain-derived-neurotrophic-factor-insulin-like-growth-factor-1-and-inflammatory-cytokine-responses-to-continuous-and-intermittent-exercise-in-patients-with-type-1-diabetes
#16
Aleksandra Żebrowska, Barbara Hall, Adam Maszczyk, Rafał Banaś, Joanna Urban
AIMS: Type 1 diabetes mellitus (T1DM) is an important risk factor for cognitive decline and motor dysfunction due to progressive muscular atrophy. Chronic hyperglycemia may be responsible for impaired vascular function, loss of muscle mass, and morphological abnormalities in the myocytes. For the proper functioning of the neuromuscular system, two crucial growth factors are necessary: brain-derived neurotrophic factor (BDNF) and insulin-like growth factor-1 (IGF-1), whose reduced expressions have been implicated in progressive neuropathy and muscle atrophy in patients with T1DM...
September 1, 2018: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/30177455/does-albuterol-have-an-effect-on-neuromuscular-junction-dysfunction-in-spinal-muscular-atrophy
#17
Maria Carmela Pera, Marco Luigetti, Serena Sivo, Leonardo Lapenta, Giuseppe Granata, Laura Antonaci, Giorgia Coratti, Nicola Forcina, Marika Pane, Eugenio Mercuri
No abstract text is available yet for this article.
October 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30169600/improved-mobility-with-metformin-in-patients-with-myotonic-dystrophy-type-1-a-randomized-controlled-trial
#18
Guillaume Bassez, Etienne Audureau, Jean-Yves Hogrel, Raphaëlle Arrouasse, Sandrine Baghdoyan, Hamza Bhugaloo, Marie-Laurence Gourlay-Chu, Philippe Le Corvoisier, Marc Peschanski
Metformin, the well-known anti-diabetic drug, has been shown recently to improve the grip test performance of the DMSXL mouse model of myotonic dystrophy type 1. The drug may have positively affected muscle function via several molecular mechanisms, on RNA splicing, autophagia, insulin sensitivity or glycogen synthesis. Myotonic dystrophy remains essentially an unmet medical need. Since metformin benefits from a good toxicity profile, we investigated its potential for improving mobility in patients. Forty ambulatory adult patients were recruited consecutively at the neuromuscular reference centre of Henri-Mondor Hospital...
August 29, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30148697/muscle-wasting-diseases-novel-targets-and-treatments
#19
Regula Furrer, Christoph Handschin
Adequate skeletal muscle plasticity is an essential element for our well-being, and compromised muscle function can drastically affect quality of life, morbidity, and mortality. Surprisingly, however, skeletal muscle remains one of the most under-medicated organs. Interventions in muscle diseases are scarce, not only in neuromuscular dystrophies, but also in highly prevalent secondary wasting pathologies such as sarcopenia and cachexia. Even in other diseases that exhibit a well-established risk correlation of muscle dysfunction due to a sedentary lifestyle, such as type 2 diabetes or cardiovascular pathologies, current treatments are mostly targeted on non-muscle tissues...
August 27, 2018: Annual Review of Pharmacology and Toxicology
https://www.readbyqxmd.com/read/30148187/-ex-vivo-whole-cell-recordings-in-adult-drosophila-brain
#20
Alexa J Roemmich, Soleil S Schutte, Diane K O'Dowd
Cost-effective and efficient, the fruit fly ( Drosophila melanogaster ) has been used to make many key discoveries in the field of neuroscience and to model a number of neurological disorders. Great strides in understanding have been made using sophisticated molecular genetic tools and behavioral assays. Functional analysis of neural activity was initially limited to the neuromuscular junction (NMJ) and in the central nervous system (CNS) of embryos and larvae. Elucidating the cellular mechanisms underlying neurological processes and disorders in the mature nervous system have been more challenging due to difficulty in recording from neurons in adult brains...
July 20, 2018: Bio-protocol
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