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Neuromuscular diseases

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https://www.readbyqxmd.com/read/28819043/increased-acetylation-of-microtubules-rescues-human-tau-induced-microtubule-defects-and-neuromuscular-junction-abnormalities-in-drosophila
#1
Chuan-Xi Mao, Xue Wen, Shan Jin, Yong Q Zhang
Tau normally associates with and stabilizes microtubules (MTs), but is hyperphosphorylated and aggregated into neurofibrillary tangles in Alzheimer's disease and related neurodegenerative diseases, which are collectively known as tauopathies. MTs are regulated by different forms of post-translational modification including acetylation; acetylated MTs represent a more stable microtubule population. In our previous study, we show that inhibition of histone deacetylase 6 (HDAC6), which deacetylates tubulin at lysine 40, rescues defects in MTs and in neuromuscular junction growth caused by tau overexpression...
August 17, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28818054/comparison-of-the-trapezius-and-the-adductor-pollicis-muscle-as-predictor-of-good-intubating-conditions-a-randomized-controlled-trial
#2
Stefan Soltesz, Christian Stark, Karl G Noé, Michael Anapolski, Thomas Mencke
BACKGROUND: Adequate muscle relaxation is important for ensuring optimal conditions for intubation. Although acceleromyography of the adductor pollicis muscle is commonly used to assess conditions for intubation, we hypothesized that acceleromyography of the trapezius is more indicative of optimal intubating conditions. The primary outcome was the difference between both measurement sites with regard to prediction of good or acceptable intubating conditions. METHODS: Neuromuscular blockade after injection of rocuronium 0...
August 17, 2017: BMC Anesthesiology
https://www.readbyqxmd.com/read/28816177/electrical-stimulation-of-gut-motility-guided-by-an-in-silico-model
#3
Bradley Brigham Barth, Craig S Henriquez, Warren M Grill, Xiling Shen
OBJECTIVE: Neuromodulation of the central and peripheral nervous systems is becoming increasingly important for treating a diverse set of diseases-ranging from Parkinson's Disease and epilepsy to chronic pain. However, neuromodulation of the gastrointestinal (GI) tract has achieved relatively limited success in treating functional GI disorders, which affect a significant population, because the effects of stimulation on the enteric nervous system (ENS) and gut motility are not well understood...
August 17, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28813953/bridge-behavioural-reaching-interfaces-during-daily-antigravity-activities-through-upper-limb-exoskeleton-preliminary-results
#4
Marta Gandolla, Andrea Costa, Lorenzo Aquilante, Margit Gfoehler, Markus Puchinger, Francesco Braghin, Alessandra Pedrocchi
People with neuromuscular diseases such as muscular dystrophy experience a distributed and evolutive weakness in the whole body. Recent technological developments have changed the daily life of disabled people strongly improving the perceived quality of life, mostly concentrating on powered wheelchairs, so to assure autonomous mobility and respiratory assistance, essential for survival. The key concept of the BRIDGE project is to contrast the everyday experience of losing functions by providing them of a system able to exploit the best their own residual capabilities in arm movements so to keep them functional and autonomous as much as possible...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813849/effects-of-partial-body-weight-support-and-functional-electrical-stimulation-on-gait-characteristics-during-treadmill-locomotion-pros-and-cons-of-saddle-seat-type-body-weight-support
#5
Natsumi Kataoka, Hiroaki Hirai, Taya Hamilton, Fumiaki Yoshikawa, Akira Kuroiwa, Yuma Nagakawa, Eichi Watanabe, Yudai Ninomaru, Yuri Saeki, Mitsunori Uemura, Fumio Miyazaki, Hiroshi Nakata, Tomoki Nishi, Hiroaki Naritomi, Hermano Igo Krebs
Robotic therapy for rehabilitation of the lower extremity is currently in its early stage of development. Aiming at exploring an efficacious intervention for gait rehabilitation, we investigate the characteristics of an end-effector gait-training device that combines saddle-seat-type body-weight-supported treadmill training with functional electrical stimulation (FES). This is a task-oriented approach to restoring voluntary control of locomotion in patients with neuromuscular diseases. We evaluate the differences between walking with saddle-seat-type support and with harness-type support, in terms of personal preference, the preferred walking speed, profiles of kinematics and ground reaction force, and the effectiveness of FES...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28812043/swallowing-markers-in-spinal-and-bulbar-muscular-atrophy
#6
Haruhiko Banno, Masahisa Katsuno, Keisuke Suzuki, Seiya Tanaka, Noriaki Suga, Atsushi Hashizume, Tomoo Mano, Amane Araki, Hirohisa Watanabe, Yasushi Fujimoto, Masahiko Yamamoto, Gen Sobue
OBJECTIVE: We examined the characteristics of dysphagia in spinal and bulbar muscular atrophy, a hereditary neuromuscular disease causing weakness of limb, facial, and oropharyngeal muscles via a videofluoroscopic swallowing study, and investigated the plausibility of using these outcome measures for quantitative analysis. METHODS: A videofluoroscopic swallowing study was performed on 111 consecutive patients with genetically confirmed spinal and bulbar muscular atrophy and 53 age- and sex-matched healthy controls...
August 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28810241/molecular-epidemiology-of-charcot-marie-tooth-disease-in-northern-ostrobothnia-finland-a-population-based-study
#7
Maria Marttila, Laura Kytövuori, Seppo Helisalmi, Mika Kallio, Marjo Laitinen, Mikko Hiltunen, Mikko Kärppä, Kari Majamaa
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder with a population prevalence of 9.7-82.3/100,000. In this study, we have estimated the prevalence of CMT and its subtypes in Finland and examined the frequency of molecular etiologies. METHODS: A population-based survey included adult patients with peripheral neuropathy from the province of Northern Ostrobothnia, Finland. Secondary causes of peripheral polyneuropathy were excluded and patients with clinical and neurophysiological features pertinent with CMT were included...
August 16, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28809841/measuring-neuromuscular-junction-functionality
#8
Emanuele Rizzuto, Simona Pisu, Carmine Nicoletti, Zaccaria Del Prete, Antonio Musarò
Neuromuscular junction (NMJ) functionality plays a pivotal role when studying diseases in which the communication between motor neuron and muscle is impaired, such as aging and amyotrophic lateral sclerosis (ALS). Here we describe an experimental protocol that can be used to measure NMJ functionality by combining two types of electrical stimulation: direct muscle membrane stimulation and the stimulation through the nerve. The comparison of the muscle response to these two different stimulations can help to define, at the functional level, potential alterations in the NMJ that lead to functional decline in muscle...
August 6, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28808928/regulation-of-survival-motor-neuron-protein-by-the-nuclear-factor-kappa-b-pathway-in-mouse-spinal-cord-motoneurons
#9
Saravanan Arumugam, Stefka Mincheva-Tasheva, Ambika Periyakaruppiah, Sandra de la Fuente, Rosa M Soler, Ana Garcera
Survival motor neuron (SMN) protein deficiency causes the genetic neuromuscular disorder spinal muscular atrophy (SMA), characterized by spinal cord motoneuron degeneration. Since SMN protein level is critical to disease onset and severity, analysis of the mechanisms involved in SMN stability is one of the central goals of SMA research. Here, we describe the role of several members of the NF-κB pathway in regulating SMN in motoneurons. NF-κB is one of the main regulators of motoneuron survival and pharmacological inhibition of NF-κB pathway activity also induces mouse survival motor neuron (Smn) protein decrease...
August 14, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28806453/neurologic-complications-associated-with-the-zika-virus-in-brazilian-adults
#10
Ivan Rocha Ferreira da Silva, Jennifer A Frontera, Ana Maria Bispo de Filippis, Osvaldo Jose Moreira do Nascimento
Importance: There are no prospective cohort studies assessing the incidence and spectrum of neurologic manifestations secondary to Zika virus (ZIKV) infection in adults. Objective: To evaluate the rates of acute ZIKV infection among patients hospitalized with Guillain-Barré syndrome (GBS), meningoencephalitis, or transverse myelitis. Design, Setting, and Participants: A prospective, observational cohort study was conducted at a tertiary referral center for neurological diseases in Rio de Janeiro, Brazil, between December 5, 2015, and May 10, 2016, among consecutive hospitalized adults (>18 years of age) with new-onset acute parainfectious or neuroinflammatory disease...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28800337/the-new-zealand-neuromuscular-disease-patient-registry-five-years-and-a-thousand-patients
#11
Miriam J Rodrigues, Gina L O'Grady, Graeme Hammond-Tooke, Alexa Kidd, Donald O Love, Ronelle K Baker, Richard H Roxburgh
The New Zealand Neuromuscular Disease Patient Registry has been recruiting for five years. Its primary aim is to enable people with neuromuscular disease to participate in research including clinical trials. It has contributed data to large anonymised cohort studies and many feasibility studies, and has provided practical information and advice to researchers wanting to work with people with neuromuscular conditions. 1019 people have enrolled since the Registry's launch in August 2011 with over 70 different diagnoses...
August 11, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28799491/exercise-programmes-for-osteoarthritis-with-different-localization
#12
Sevdalina Lambova
Therapeutic exercises in osteoarthritis (OA) are therapeutic approach with proven efficacy. On the other hand, the different disease form, the lack of established consensus and system for patient education limit the widespread use of therapeutic exercises in clinical practice. The mechanisms of action of therapeutic exercise in OA include the following components e. g., neuromuscular (improvement of proprioception, muscle strength and joint stability), intra-articular (prevention of cartilage degeneration, antiinflammatory effect, improvement of the quality of the joint fluid), periarticular, general health with reduction of cardiovascular risk and psychological components...
August 10, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28798922/practical-approach-to-the-patient-with-acute-neuromuscular-weakness
#13
REVIEW
Rajeev Nayak
Acute neuromuscular paralysis (ANMP) is a clinical syndrome characterized by rapid onset muscle weakness progressing to maximum severity within several days to weeks (less than 4 wk). Bulbar and respiratory muscle weakness may or may not be present. It is a common neurological emergency which requires immediate and careful investigations to determine the etiology because accurate diagnosis has significant impact on therapy and prognosis. Respiratory failure caused by neuromuscular weakness is considered as more critical than lung disease because its development may be insidious or subtle until sudden decompensation leads to life threatening hypoxia...
July 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28796527/role-of-leptin-in-obstructive-sleep-apnea
#14
Ikuyo Imayama, Bharati Prasad
Leptin is a peptide hormone mainly produced in white adipose tissue. It is known to regulate energy homeostasis, inflammation, metabolism, and sympathetic nerve activity. Increasing evidence suggests it has a role in ventilatory function and upper airway obstruction. Leptin levels correlate positively with measurements of adiposity and can potentially provide important insights into the pathophysiology of diseases associated with obesity. Obesity is a strong risk factor for obstructive sleep apnea, a disease characterized by periodic upper airway occlusion during sleep...
August 10, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28796340/application-of-differentiated-human-tonsil-derived-stem-cells-to-trembler-j-mice
#15
Saeyoung Park, Yoonyoung Choi, Geon Kwak, Young Bin Hong, Namhee Jung, Jieun Kim, Byung-Ok Choi, Sung-Chul Jung
INTRODUCTION: Mesenchymal stem cells (MSCs) can differentiate into various cell types. METHODS: We investigated the potential of human tonsil-derived MSCs (T-MSCs) for neuromuscular regeneration in trembler-J (Tr-J) mice: a model for Charcot-Marie-Tooth disease type 1A (CMT1A. RESULTS: T-MSCs differentiated toward skeletal myocytes with increased expression of skeletal muscle-related markers (including troponin I type 1, and myogenin), and the formation of myotubes in vitro...
August 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28796094/patulous-eustachian-tube-dysfunction-patient-demographics-and-comorbidities
#16
Bryan K Ward, Yehia Ashry, Dennis S Poe
OBJECTIVE: The objective is to describe a large cohort of patients presenting with patulous Eustachian tube (pET) dysfunction. STUDY DESIGN: Retrospective patient series. SETTING: Tertiary referral center. PATIENTS: All outpatient visits (2004-2016) that were assigned ICD9 code (381.7-Patulous Eustachian tube) were screened. Only patients with observed tympanic membrane movements during ipsilateral nasal breathing or acoustic reflex decay testing demonstrating transmitted nasal breathing were included (n = 190, n = 239 ears)...
August 8, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28795588/feasibility-of-peripheral-nerve-mr-neurography-using-diffusion-tensor-imaging-adapted-to-skeletal-muscle-disease
#17
Sarah Keller, Zhiyue J Wang, Amir Golsari, Anne Catherine Kim, Hendrik Kooijman, Gerhard Adam, Jin Yamamura
Background Diffusion tensor imaging (DTI) of peripheral nerves may provide additional information about nerve involvement in muscular disorders, but is considered difficult due to different optimal scan parameters tailored to magnetic resonance (MR) signal properties of muscle and neural tissues. Purpose To assess the feasibility of sciatic nerve DTI using two different approaches of region of interest (ROI)-localization in DTI scans with b-values 500 s/mm(2), in participants with muscular disorders and in controls...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28794251/clinicopathologic-features-of-myositis-patients-with-cd8-mhc-1-complex-pathology
#18
Chiseko Ikenaga, Akatsuki Kubota, Masato Kadoya, Kenichiro Taira, Naohiro Uchio, Ayumi Hida, Meiko Hashimoto Maeda, Yu Nagashima, Hiroyuki Ishiura, Kenichi Kaida, Jun Goto, Shoji Tsuji, Jun Shimizu
OBJECTIVE: To determine the clinical features of myositis patients with the histopathologic finding of CD8-positive T cells invading non-necrotic muscle fibers expressing major histocompatibility complex class 1 (CD8-MHC-1 complex), which is shared by polymyositis (PM) and inclusion body myositis (IBM), in relation to the p62 immunostaining pattern of muscle fibers. METHODS: All 93 myositis patients with CD8-MHC-1 complex who were referred to our hospital from 1993 to 2015 were classified on the basis of the European Neuromuscular Center (ENMC) diagnostic criteria for IBM (Rose, 2013) or PM (Hoogendijk, 2004) and analyzed...
August 9, 2017: Neurology
https://www.readbyqxmd.com/read/28790398/shedding-light-on-alzheimer-s-%C3%AE-amyloidosis-photosensitized-methylene-blue-inhibits-self-assembly-of-%C3%AE-amyloid-peptides-and-disintegrates-their-aggregates
#19
Byung Il Lee, Yoon Seok Suh, You Jung Chung, Kweon Yu, Chan Beum Park
Abnormal aggregation of β-amyloid (Aβ) peptides is a major hallmark of Alzheimer's disease (AD). In spite of numerous attempts to prevent the β-amyloidosis, no effective drugs for treating AD have been developed to date. Among many candidate chemicals, methylene blue (MB) has proved its therapeutic potential for AD in a number of in vitro and in vivo studies; but the result of recent clinical trials performed with MB and its derivative was negative. Here, with the aid of multiple photochemical analyses, we first report that photoexcited MB molecules can block Aβ42 aggregation in vitro...
August 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28781934/signaling-in-parasitic-nematodes-physicochemical-communication-between-host-and-parasite-and-endogenous-molecular-transduction-pathways-governing-worm-development-and-survival
#20
James B Lok
Signaling or communication between host and parasite may occur over relatively long ranges to enable host finding and acquisition by infective parasitic nematode larvae. Innate behaviors in infective larvae transmitted from the soil that enhance the likelihood of host contact, such as negative geotaxis and hypermotility, are likely mediated by mechanoreception and neuromuscular signaling. Host cues such as vibration of the substratum, elevated temperature, exhaled CO2, and other volatile odorants are perceived by mechanosensory and chemosensory neurons of the amphidial complex...
December 2016: Current Clinical Microbiology Reports
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