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https://www.readbyqxmd.com/read/28087666/dysregulation-of-b-cell-repertoire-formation-in-myasthenia-gravis-patients-revealed-through-deep-sequencing
#1
Jason A Vander Heiden, Panos Stathopoulos, Julian Q Zhou, Luan Chen, Tamara J Gilbert, Christopher R Bolen, Richard J Barohn, Mazen M Dimachkie, Emma Ciafaloni, Teresa J Broering, Francois Vigneault, Richard J Nowak, Steven H Kleinstein, Kevin C O'Connor
Myasthenia gravis (MG) is a prototypical B cell-mediated autoimmune disease affecting 20-50 people per 100,000. The majority of patients fall into two clinically distinguishable types based on whether they produce autoantibodies targeting the acetylcholine receptor (AChR-MG) or muscle specific kinase (MuSK-MG). The autoantibodies are pathogenic, but whether their generation is associated with broader defects in the B cell repertoire is unknown. To address this question, we performed deep sequencing of the BCR repertoire of AChR-MG, MuSK-MG, and healthy subjects to generate ∼518,000 unique VH and VL sequences from sorted naive and memory B cell populations...
January 13, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28087067/-successful-use-of-sugammadex-for-caesarean-section-in-a-patient-with-myasthenia-gravis
#2
Lokman Soyoral, Ugur Goktas, Muhammed Bilal Cegin, Volkan Baydi
Myasthenia gravis is an autoimmune disorder that is characterized by muscle weakness that fluctuates, worsening with exertion, and improving with rest. Diagnosis of myasthenia gravis is made following clinical and physical examination and is confirmed by serum immunoassays to measure autoantibody levels. Myasthenia gravis especially when associated with pregnancy is a high-risk disease, and its course is unpredictable. We described the second report about use of sugammadex after rocuronium for a caesarean delivery with myasthenia gravis, but, unlike our case that formerly was diagnosed with myasthenia gravis, the patient was extubated on postoperative successfully and we did not encounter any respiratory problems...
January 10, 2017: Revista Brasileira de Anestesiologia
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
#3
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/28078065/clinical-features-of-neuromuscular-disorders-in-patients-with-n-type-voltage-gated-calcium-channel-antibodies
#4
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/28075449/construction-of-an-mirna-regulated-drug-pathway-network-reveals-drug-repurposing-candidates-for-myasthenia-gravis
#5
Yuze Cao, Xiaoyan Lu, Jianjian Wang, Huixue Zhang, Zhaojun Liu, Si Xu, Tianfeng Wang, Shangwei Ning, Bo Xiao, Lihua Wang
Myasthenia gravis (MG) is a rare debilitating autoimmune neuromuscular disorder. Many studies have focused on the mechanism and treatment strategies of MG. However, the exact pathogenesis of MG and effective treatment strategies remain unclear. Recent studies have indicated that microRNAs (miRNAs or miRs) can regulate the pathological pathways of MG, suggesting their potential role in novel treatments. In the present study, we created a comprehensive catalog of experimentally confirmed MG risk genes and miRNAs by manually mining published literature and public databases...
January 11, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28069867/the-carboxyl-terminal-region-of-dok-7-plays-a-key-but-not-essential-role-in-activation-of-muscle-specific-receptor-kinase-musk-and-neuromuscular-synapse-formation
#6
Ryo Ueta, Tohru Tezuka, Yosuke Izawa, Sadanori Miyoshi, Satoru Nagatoishi, Kouhei Tsumoto, Yuji Yamanashi
As the synapse between a motor neuron and skeletal muscle, the neuromuscular junction (NMJ) is required for muscle contraction. The formation and maintenance of NMJs are controlled by the muscle-specific receptor kinase MuSK. Dok-7 is the essential cytoplasmic activator of MuSK, and indeed mice lacking Dok-7 form no NMJs. Moreover, DOK7 gene mutations underlie DOK7 myasthenia, an NMJ synaptopathy. Previously, we failed to detect MuSK activation in myotubes by Dok-7 mutated in the N-terminal pleckstrin homology (PH) or phosphotyrosine binding (PTB) domain or that lacked the C-terminal region (Dok-7-ΔC)...
January 7, 2017: Journal of Biochemistry
https://www.readbyqxmd.com/read/28066568/thymectomy-for-myasthenia-gravis-what-we-know-and-what-we-don-t
#7
EDITORIAL
Carlos E Bravo-Iñiguez, Michael T Jaklitsch
No abstract text is available yet for this article.
November 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28062220/sleep-lung-function-and-quality-of-life-in-patients-with-myasthenia-gravis-a-cross-sectional-study
#8
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/28061919/myasthenia-gravis-and-its-aeromedical-implications
#9
Tania Jagathesan, Michael D O'Brien
BACKGROUND: Myasthenia gravis is an autoimmune condition where antibodies form against the acetylcholine receptors at the neuromuscular junction, eventually causing damage to the motor end plate. The clinical features include muscle fatigability as well as ocular, bulbar, and limb weakness, which can have implications on the role of a pilot or air traffic controller. This retrospective study reviewed the United Kingdom Civil Aviation Authority (UK CAA) experience of myasthenia gravis...
January 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28045063/profile-of-upregulated-inflammatory-proteins-in-sera-of-myasthenia-gravis-patients
#10
Carl Johan Molin, Elisabet Westerberg, Anna Rostedt Punga
This study describes specific patterns of elevated inflammatory proteins in clinical subtypes of myasthenia gravis (MG) patients. MG is a chronic, autoimmune neuromuscular disease with antibodies most commonly targeting the acetylcholine receptors (AChRab), which causes fluctuating skeletal muscle fatigue. MG pathophysiology includes a strong component of inflammation, and a large proportion of patients with early onset MG additionally present thymus hyperplasia. Due to the fluctuating nature and heterogeneity of the disease, there is a great need for objective biomarkers as well as novel potential inflammatory targets...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28043477/thymectomy-for-myasthenia-gravis-complete-stable-remission-and-associated-prognostic-factors-in-over-1000-cases
#11
Andrew J Kaufman, Justin Palatt, Mark Sivak, Peter Raimondi, Dong-Seok Lee, Andrea Wolf, Fouad Lajam, Faiz Bhora, Raja M Flores
The efficacy of thymectomy and the optimal surgical technique in the treatment of myasthenia gravis (MG) remain controversial. Long-term outcomes are lacking and remission rates are based on small populations. We reviewed our institutional experience of thymectomy for MG focusing on long-term outcomes, complete stable remission (CSR), improvement of symptoms, after transcervical, transsternal, thoracotomy, and VATS thymectomy. A retrospective review of a prospectively maintained database of 3017 patients from 1941-2013 with MG was performed...
July 2016: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28038891/characterization-of-a-reproducible-rat-eamg-model-induced-with-various-human-acetylcholine-receptor-domains
#12
Konstantinos Lazaridis, Vassiliki Baltatzidi, Nikolaos Trakas, Eleni Koutroumpi, Nikolaos Karandreas, Socrates J Tzartos
Myasthenia gravis (MG) is usually caused by antibodies against the muscle acetylcholine receptor (AChR). Experimental autoimmune MG (EAMG) is the animal model of MG, typically induced by immunization of rodents with AChR isolated from the electric organ of Torpedo californica. We have successfully induced EAMG in Lewis rats by immunization with the extracellular domains (ECDs) of the human AChR subunits (α, β, γ, δ and ε) expressed in yeast. Analysis of the antibody titers revealed a robust antigenic response against all the peptides, but a marked difference in their pathogenicity; the α subunit ECD was the most pathogenic, resulting in the highest percentage of affected animals...
December 21, 2016: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28033668/cognitive-fatigue-in-patients-with-myasthenia-gravis
#13
Berit Jordan, Tabea L K Schweden, Theresa Mehl, Uwe Menge, Stephan Zierz
INTRODUCTION: Cognitive fatigue has frequently been reported in myasthenia gravis (MG). However, objective assessment of cognitive fatigability has never been evaluated. METHODS: Thirty-three MG patients with stable generalized disease and 17 healthy controls underwent a test battery including repeated testing of attention and concentration (d2-R) and PASAT (Paced Auditory Serial Addition Test). Fatigability was based on calculation of linear trend (LT) reflecting dynamic performance within subsequent constant time intervals...
December 29, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/28029925/myasthenia-gravis
#14
REVIEW
Nils E Gilhus
No abstract text is available yet for this article.
29, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/28029697/validation-of-the-italian-version-of-the-15-item-myasthenia-gravis-quality-of-life-questionnaire-mg-qol15
#15
Alberto Raggi, Matilde Leonardi, Roberta Ayadi, Carlo Antozzi, Lorenzo Maggi, Fulvio Baggi, Renato Mantegazza
INTRODUCTION: We present the Italian version of the 15-item Myasthenia Gravis Quality of Life questionnaire (MG-QOL15). METHODS: The protocol included the MG-QOL15, the SF-36, the Besta Neurological Institute Rating Scale for Myasthenia Gravis, and the MG-Composite. We used the Cronbach alpha to test reliability, Spearman correlations to test short-term test-retest, Kruskal-Wallis test to assess differences in MG-QOL15 between patients with different disease severity, and Wilcoxon signed-rank test to assess sensitivity to change...
December 28, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/28029691/electrophysiological-testing-is-correlated-with-myasthenia-gravis-severity
#16
Alon Abraham, Ari Breiner, Carolina Barnett, Hans D Katzberg, Leif E Lovblom, Mylan Ngo, Vera Bril
INTRODUCTION: Electrophysiological studies play an important role in the diagnosis of myasthenia gravis (MG). OBJECTIVES: To explore the correlation of jitter and decrement with various clinical symptoms and signs and disease severity. METHODS: We performed a retrospective chart review of 75 MG patients who attended the neuromuscular clinic from April 2013 to May 2014. We compared clinical characteristics between patients with high jitter (>100 µs) and decrement (>10%), and patients with lower values to explore the correlations and optimal thresholds of jitter and decrement for different clinical features...
December 28, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/28012741/analysis-of-tnf-related-apoptosis-inducing-ligand-and-receptors-and-implications-in-thymus-biology-and-myasthenia-gravis
#17
Irem Kanatli, Bahar Akkaya, Hilmi Uysal, Sevim Kahraman, Ahter Dilsad Sanlioglu
Myasthenia Gravis is an autoantibody-mediated, neuromuscular junction disease, and is usually associated with thymic abnormalities presented as thymic tumors (~10%) or hyperplastic thymus (~65%). The exact role of thymus in Myasthenia Gravis development is not clear, yet many patients benefit from thymectomy. The apoptotic ligand TNF-Related Apoptosis-Inducing Ligand is thought to be involved in the regulation of thymocyte counts, although conflicting results are reported. We investigated differential expression profiles of TNF-Related Apoptosis-Inducing Ligand and its transmembrane receptors, Nuclear Factor-kB activation status, and apoptotic cell counts in healthy thymic tissue and pathological thymus from Myasthenia Gravis patients...
November 4, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28010051/qmg-and-mg-adl-correlations-study-of-eculizumab-treatment-of-myasthenia-gravis
#18
James F Howard, Miriam Freimer, Fanny O'Brien, Jing Jing Wang, Stephen R Collins, John T Kissel, Laura Herbelin, April L McVey, Mazen M Dimachkie, Mamatha Pasnoor, Debbie Lu, Alexander Waltz, Vinay Chaudhry, Andrea Corse, Elizabeth Mosmiller, Caroline Klein, Manisha Chopra, Elizabeth Richardson, Janice M Massey, Lisa D Hobson-Webb, Jeffrey Guptill, Wendy King, Annabel K Wang, Kaveh Saremi, Patricia A Tully, Denise Davis, Veronica Martin, Robert M Pascuzzi, Sandy Guingrich, Angela Micheels, Michael Pulley, Kenneth Hentschel, Lisa Smith, Rhonda Calhoun, James Gilchrist, George Sachs, Brigid Crabtree, Elena Kim Perez, Kenneth Gorson, Elizabeth Harrahy Cobb, Elinita Rosseto, Zaeem Siddiqi, Syed Nizamuddin Ahmed, Derrick Blackmore, Shannon Butler-Tyler, Sarah Louise Miller, Caroline Carmichael, Ted Burns, William David, Peter Donofrio, Bashar Katirji, Richard Lewis, Shin Oh, David Richman, Mark Sivak, Rup Tandan, Gil Wolfe, Shawn Bird, David Hilton-Jones
INTRODUCTION: A phase 2 study of eculizumab for treating myasthenia gravis (MG) used the quantitative myasthenia gravis score (QMG) and myasthenia gravis activities of daily living profile (MG-ADL) to evaluate baseline disease severity and treatment response. Correlations were then analyzed between these assessments. METHODS: Patients were given eculizumab or placebo during the first 16-week treatment period of the crossover study, with treatment assignments reversed for the second treatment period following a 5-week washout...
December 23, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/28009774/effect-of-plasmapheresis-and-passage-of-anti-retinal-antibodies-through-the-placenta-in-a-case-of-non-paraneoplastic-autoimmune-retinopathy
#19
David I Sierpina, David M Skale, Joseph T Fan
PURPOSE: To present a case of nonparaneoplastic autoimmune retinopathy in association with myasthenia gravis in a young woman, and to report the effect of plasmapheresis as well as passage of antiretinal antibodies through the placenta. METHODS: Case report. RESULTS: A 31-year-old woman presented with a history of myasthenia gravis and rapidly progressive vision loss at the age of 23. Funduscopic appearance and fluorescein angiographic findings on presentation were consistent with an autoimmune retinopathy...
January 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28009770/fatal-morvan-syndrome-associated-with-myasthenia-gravis
#20
Madhu Nagappa, Anita Mahadevan, Sanjib Sinha, Parayil S Bindu, Pavagada S Mathuranath, Cheminikara Bineesh, Rose D Bharath, Arun B Taly
INTRODUCTION: Morvan syndrome is a rare and complex autoimmune disorder affecting multiple sites of neuraxis. CASE REPORT: We present fulminant Morvan syndrome, developing on a background of chronic myasthenia gravis. A 54-year-old gentleman presented with fluctuating ophthalmoplegia and proximal muscles weakness of 7 years duration that remitted with pyridostigmine and prednisolone. He developed insomnia of 2 months duration, worsening of myasthenic symptoms and respiratory distress, dysautonomia, encephalopathy, and peripheral nerve hyperexcitability...
January 2017: Neurologist
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