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Neuromuscular disease

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https://www.readbyqxmd.com/read/28434158/physical-performance-in-newly-diagnosed-hypothyroidism-a-pilot-study
#1
D Gallo, E Piantanida, G Veronesi, A Lai, L Sassi, V Lombardi, E Masiello, P Premoli, E Bianconi, C Cusini, S Rosetti, M L Tanda, A Toniolo, M Ferrario, L Bartalena
OBJECTIVE: Hypothyroidism is complicated by neuromuscular symptoms (myalgias, slowness of movements, and tiredness) and signs (easy fatigability and cramps), which may have a negative impact on general well-being and quality of life. In a pilot, prospective, controlled study, we investigated the features of muscle dysfunction in hypothyroidism by disease questionnaire, biochemical measures, and physical performance tests. MATERIALS AND METHODS: Fifty-seven consecutive patients with newly diagnosed hypothyroidism were enrolled, 27 subclinical (S-Hypo) and 30 overt (O-Hypo)...
April 22, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28432901/neuromuscular-rate-of-force-development-deficit-in-parkinson-disease
#2
Kelley G Hammond, Ronald F Pfeiffer, Mark S LeDoux, Brian K Schilling
BACKGROUND: Bradykinesia and reduced neuromuscular force exist in Parkinson disease. The interpolated twitch technique has been used to evaluate central versus peripheral manifestations of neuromuscular strength in healthy, aging, and athletic populations, as well as moderate to advanced Parkinson disease, but this method has not been used in mild Parkinson disease. This study aimed to evaluate quadriceps femoris rate of force development and quantify potential central and peripheral activation deficits in individuals with Parkinson disease...
April 11, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/28432606/neuromuscular-electrostimulation-a-new-therapeutic-option-to-improve-radio-cephalic-arteriovenous-fistula-maturation-in-end-stage-chronic-kidney-disease-patients
#3
Lucia Martinez, Vicent Esteve, Montserrat Yeste, Vicent Artigas, Secundino Llagostera
BACKGROUND: Radio-cephalic arteriovenous fistula (RCAVF) is the gold standard vascular access for end-stage chronic kidney disease patients. Exercises after arteriovenous fistula (AVF) creation improve maturation. No articles are published regarding neuromuscular electrostimulation (NMES) in AVF maturation. OBJECTIVES: To assess the usefulness of a NMES programme on RCAVF maturation process. METHODS: An 8-week single-centre prospective study...
April 21, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28431606/screening-for-cognitive-and-behavioural-impairment-in-amyotrophic-lateral-sclerosis-frequency-of-abnormality-and-effect-on-survival
#4
Zhouwei Xu, Ashwag Rafea S Alruwaili, Robert David Henderson, Pamela Ann McCombe
OBJECTIVE: To screen for cognitive and behavioural impairment in people with amyotrophic lateral sclerosis (ALS) and controls with neuromuscular disease and to correlate these with clinical features. METHODS: 108 people with ALS and 60 controls with other neuromuscular diseases were recruited and assessed with the Addenbrooke's cognitive examination-III (ACE-III), the frontal assessment battery (FAB), and the executive function component of the Edinburgh cognitive and behavioural ALS screen (ECAS)...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28431604/a-reappraisal-of-diagnostic-tests-for-myasthenia-gravis-in-a-large-asian-cohort
#5
Yew Long Lo, Raymond P Najjar, Kelvin Y Teo, Sharon L Tow, Jing Liang Loo, Dan Milea
BACKGROUND: Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease characterized by weakness of bodily skeletal muscles. Office-based diagnostic tests such as repetitive nerve stimulation (RNS), single fiber electromyography (SFEMG), and the ice test, are used to refine the differential clinical diagnosis of this disease. Evaluating the clinical sensitivity and specificity of these tests, however, may be confounded by lack of a gold standard, non-blinding, incorporation bias, use of non-representative populations and retrospective data...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28428630/hinge-deleted-igg4-blocker-therapy-for-acetylcholine-receptor-myasthenia-gravis-in-rhesus-monkeys
#6
Mario Losen, Aran F Labrijn, Vivianne H van Kranen-Mastenbroek, Maarten L Janmaat, Krista G Haanstra, Frank J Beurskens, Tom Vink, Margreet Jonker, Bert A 't Hart, Marina Mané-Damas, Peter C Molenaar, Pilar Martinez-Martinez, Eline van der Esch, Janine Schuurman, Marc H de Baets, Paul W H I Parren
Autoantibodies against ion channels are the cause of numerous neurologic autoimmune disorders. Frequently, such pathogenic autoantibodies have a restricted epitope-specificity. In such cases, competing antibody formats devoid of pathogenic effector functions (blocker antibodies) have the potential to treat disease by displacing autoantibodies from their target. Here, we have used a model of the neuromuscular autoimmune disease myasthenia gravis in rhesus monkeys (Macaca mulatta) to test the therapeutic potential of a new blocker antibody: MG was induced by passive transfer of pathogenic acetylcholine receptor-specific monoclonal antibody IgG1-637...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28424375/mitochondria-a-central-target-for-sex-differences-in-pathologies
#7
REVIEW
Renée Ventura-Clapier, Maryline Moulin, Jérôme Piquereau, Christophe Lemaire, Mathias Mericskay, Vladimir Veksler, Anne Garnier
It is increasingly acknowledged that a sex and gender specificity affects the occurrence, development, and consequence of a plethora of pathologies. Mitochondria are considered as the powerhouse of the cell because they produce the majority of energy-rich phosphate bonds in the form of adenosine tri-phosphate (ATP) but they also participate in many other functions like steroid hormone synthesis, reactive oxygen species (ROS) production, ionic regulation, and cell death. Adequate cellular energy supply and survival depend on mitochondrial life cycle, a process involving mitochondrial biogenesis, dynamics, and quality control via mitophagy...
May 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28419739/cardiac-troponin-t-and-fast-skeletal-muscle-denervation-in-ageing
#8
Zherong Xu, Xin Feng, Juan Dong, Zhong-Min Wang, Jingyun Lee, Cristina Furdui, Daniel Clark Files, Kristen M Beavers, Stephen Kritchevsky, Carolanne Milligan, Jian-Ping Jin, Osvaldo Delbono, Tan Zhang
BACKGROUND: Ageing skeletal muscle undergoes chronic denervation, and the neuromuscular junction (NMJ), the key structure that connects motor neuron nerves with muscle cells, shows increased defects with ageing. Previous studies in various species have shown that with ageing, type II fast-twitch skeletal muscle fibres show more atrophy and NMJ deterioration than type I slow-twitch fibres. However, how this process is regulated is largely unknown. A better understanding of the mechanisms regulating skeletal muscle fibre-type specific denervation at the NMJ could be critical to identifying novel treatments for sarcopenia...
April 16, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28414153/inflammatory-myopathy-associated-with-myasthenia-gravis-with-and-without-thymic-pathology-report-of-four-cases-and-literature-review
#9
REVIEW
Ernestina Santos, Ester Coutinho, Ana Martins da Silva, António Marinho, Carlos Vasconcelos, Ricardo Taipa, Manuel Melo Pires, Guilherme Gonçalves, Carlos Lopes, Maria Isabel Leite
INTRODUCTION: the association of myasthenia gravis (MG) and inflammatory myopathy is rare and often only one of the diseases is diagnosed. Thymus pathology may be in the origin of such disease association. METHODS: we described four patients with both MG and inflammatory myopathy. RESULTS: these cases correspond to 2.3% of our MG cohort. Case 1: MG, polymyositis and thymolipoma; case 2: MG and necrotizing myopathy without thymic pathology on a background of scleroderma, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia (CREST); case 3: MG and dermatomyositis without thymic pathology; case 4: MG and dermatomyositis with type C thymoma...
April 13, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28413459/expression-levels-of-tgf-%C3%AE-1-and-ctgf-are-associated-with-the-severity-of-duchenne-muscular-dystrophy
#10
Yanmin Song, Shuai Yao, Yunhai Liu, Lili Long, Huan Yang, Qiuxiang Li, Jinghui Liang, Xinxin Li, Yuling Lu, Haoran Zhu, Ning Zhang
The present study aimed to analyze the association of transforming growth factor-β1 (TGF-β1) and connective tissue growth factor (CTGF) expression levels in skeletal muscle with the clinical manifestation of Duchenne muscular dystrophy (DMD). A total of 18 cases of DMD, which were confirmed by routine pathological diagnosis were recruited into the present study, along with 8 subjects who suffered from acute trauma but did not present any neuromuscular diseases and were enrolled as the healthy controls. Immunohistochemical staining was used to detect the expression levels of CTGF and TGF-β1 in muscle biopsy specimens...
April 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28410001/respiratory-pattern-and-tidal-volumes-differ-for-pressure-support-and-volume-assured-pressure-support-in-amyotrophic-lateral-sclerosis
#11
Trevor T Nicholson, Sean B Smith, Teepu Siddique, Robert Sufit, Senda Ajroud-Driss, John M Coleman, Lisa F Wolfe
RATIONALE: Amyotrophic Lateral Sclerosis is a progressive neuromuscular disease resulting in respiratory failure and death. Use of non-invasive ventilation (NIV) improves survival. However, use of Volume-Assured Pressure Support (VAPS) has not been extensively studied in ALS. OBJECTIVES: To explore the clinical utility of a detailed evaluation of device-recorded NIV data in the management of chronic respiratory failure in ALS. To determine if there are differences in efficacy between patients using VAPS or PS...
April 14, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28409855/the-mobility-of-mitochondria-intercellular-trafficking-in-health-and-disease
#12
Michael V Berridge, Jiri Neuzil
The view that genes are constrained within somatic cells is challenged by in vitro evidence, and more recently by in vivo studies which demonstrate that mitochondria with their mitochondrial DNA (mtDNA) payload not only can, but do move between cells in tumour models and in mouse models of tissue damage. Using mouse tumour cell models without mtDNA to reflect mtDNA damage, we have shown that these cells grow tumours only after acquiring mtDNA from cells in the local microenvironment resulting in respiration recovery, tumorigenesis and metastasis...
April 13, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/28409766/vocational-situation-and-experiences-from-the-work-environment-among-individuals-with-neuromuscular-diseases
#13
E M Lexell, I Langdell, J Lexell
BACKGROUND: Neuromuscular diseases (NMD) can affect the ability to be employed and to work, but there is limited knowledge of individuals' own perspectives of factors that are important for their vocational situation. OBJECTIVE: To explore the vocational situation among people with NMD that are employed, and to describe their experiences of how their disability, personal and environmental factors influence their ability to continue to work. METHODS: Nine participants with different NMD were included...
April 12, 2017: Work: a Journal of Prevention, Assessment, and Rehabilitation
https://www.readbyqxmd.com/read/28409282/motor-neuron-vulnerability-and-resistance-in-amyotrophic-lateral-sclerosis
#14
REVIEW
Jik Nijssen, Laura H Comley, Eva Hedlund
In the fatal disease-amyotrophic lateral sclerosis (ALS)-upper (corticospinal) motor neurons (MNs) and lower somatic MNs, which innervate voluntary muscles, degenerate. Importantly, certain lower MN subgroups are relatively resistant to degeneration, even though pathogenic proteins are typically ubiquitously expressed. Ocular MNs (OMNs), including the oculomotor, trochlear and abducens nuclei (CNIII, IV and VI), which regulate eye movement, persist throughout the disease. Consequently, eye-tracking devices are used to enable paralysed ALS patients (who can no longer speak) to communicate...
April 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28400871/results-of-arthroscopic-ankle-arthrodesis-with-fixation-using-two-parallel-headless-compression-screws-in-a-heterogenic-group-of-patients
#15
Lukas Kolodziej, Boguslaw Sadlik, Sebastian Sokolowski, Andrzej Bohatyrewicz
BACKGROUND: As orthopedic surgeons become skilled in ankle arthroscopy technique and evidence -based data is supporting its use, arthroscopic ankle arthrodesis (AAA) will likely continue to increase, but stabilization methods have not been described clearly. We present a technique for two parallel 7.3-mm headless compression screws fixation (HCSs) for AAA in cases of ankle arthritis with different etiology, both traumatic and non-traumatic, including neuromuscular and inflammatory patients...
2017: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/28399889/cardiac-pathology-in-spinal-muscular-atrophy-a-systematic-review
#16
REVIEW
C A Wijngaarde, A C Blank, M Stam, R I Wadman, L H van den Berg, W L van der Pol
BACKGROUND: Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the spinal cord are most vulnerable to reduced SMN concentrations but the development or function of other tissues may also be affected, and cardiovascular abnormalities have frequently been reported both in patients and SMA mouse models...
April 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28399101/-clinical-and-epidemiological-characteristics-of-hereditary-motor-sensory-neuropathy-1x-caused-by-the-mutation-c-259c-g-p-p87a-in-the-gjb1-gene-of-patients-from-the-republic-of-bashkortostan
#17
E V Saifullina, R V Magzhanov, I M Khidiyatova, E K Khusnutdinova
BACKGROUND: Hereditary motor-sensory neuropathy 1X (НМСН 1X) is the second frequent form of hereditary motor-sensory neuropathies caused by mutations in the GJB1 gene (gap junction B1 type). The authors have established earlier that the с.259C>G (р.P87A) mutation is the most frequent cause of НМСН 1Х (92%) in patients from the Republic of Bashkortostan. AIM: To study in details the territorial ethnic distribution and clinical manifestations of the с...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28394662/validation-of-an-ambient-measurement-system-ams-for-walking-speed
#18
Jonathan S Varsanik, Zebadiah M Kimmel, Carl de Moor, Wendy Gabel, Glenn A Phillips
Walking speed is an important indicator of worsening in a variety of neurological and neuromuscular diseases, yet typically is measured only infrequently and in a clinical setting. Passive measurement of walking speed at home could provide valuable information to track the progression of many neuromuscular conditions. The purpose of this study was to validate the measurement of walking speed by a shelf-top ambient measurement system (AMS) that can be placed in a patient's home. Twenty-eight healthy adults (16 male, 12 female) were asked to walk three pre-defined routes two times each (total of 168 traversals)...
April 10, 2017: Journal of Medical Engineering & Technology
https://www.readbyqxmd.com/read/28389016/myotonic-dystrophy-and-brugada-syndrome-a-common-pathophysiologic-pathway
#19
REVIEW
Andrés Ricardo Pérez-Riera, Adrian Baranchuk, Li Zhang, Raimundo Barbosa-Barros, Luiz Carlos de Abreu, Pedro Brugada
Type 1 myotonic dystrophy (DM1) is a hereditary neuromuscular disease affecting multiple organs in human adults. Here we report a 42-year-old man diagnosed with DM1. Having a history of progressive muscular weakness and gradual loss of visual acuity, he was referred to us by his ophthalmologist for risk assessment of undergoing cataract surgery. Cardiology workup revealed type 1 Brugada ECG pattern, positive late potentials and inducible ventricular fibrillation in an electrophysiology study. Literature review revealed that those ECG changes may be observed in DM1, suggesting that DM1 and Brugada syndrome may share a common pathophysiologic pathway...
March 14, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/28388720/new-uses-of-abobotulinumtoxina-in-aesthetics
#20
Joel Schlessinger, Erin Gilbert, Joel L Cohen, Joely Kaufman
BotulinumtoxinA (BoNT-A) is now widely established for the main approved indication of reducing glabellar lines, and is also widely used off-label to improve the appearance of wrinkles and lines in other parts of the face. The number of aesthetic procedures continues to increase as the patient population becomes more diverse, in particular with increasing numbers of people of color and men. Further developments in treatment may continue to expand the audience for BoNT-A by making procedures more comfortable and by delivering a more natural, less static appearance...
May 1, 2017: Aesthetic Surgery Journal
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