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Myasthenia

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https://www.readbyqxmd.com/read/28733338/early-and-lethal-neurodegeneration-with-myasthenic-and-myopathic-features-a-new-alg14-cdg
#1
David C Schorling, Simone Rost, Dirk J Lefeber, Lauren Brady, Clemens R Müller, Rudolf Korinthenberg, Mark Tarnopolsky, Carsten G Bönnemann, Richard J Rodenburg, Marianna Bugiani, Maria Beytia, Marcus Krüger, Marjo van der Knaap, Jan Kirschner
OBJECTIVE: To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features. METHODS: This case study of 5 patients from 3 families includes clinical phenotype, serial MRI, electrophysiologic testing, muscle biopsy, and full autopsy. Genetic workup included whole exome sequencing and segregation analysis of the likely causal mutation. RESULTS: All 5 patients showed severe muscular hypotonia, progressive cerebral atrophy, and therapy-refractory epilepsy...
July 21, 2017: Neurology
https://www.readbyqxmd.com/read/28732354/influence-of-body-mass-index-on-postoperative-complications-after-thymectomy-in-myasthenia-gravis-patients
#2
Xu-Dong Liu, Ming-Rui Shao, Lei Sun, Lin Zhang, Xin-Shan Jia, Wen-Ya Li
OBJECTIVES: It is not clear whether being overweight or obese influences postoperative complications in myasthenia gravis (MG) patients. We retrospectively investigated an association between body mass index (BMI) and postoperative complications in MG. MATERIALS AND METHODS: Fifty-nine MG patients who had undergone transsternal thymectomy were classified as low or high BMI based on the criteria for Asian-Pacific populations. An association between BMI and complications was analyzed...
July 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28731133/irrelevance-of-anti%C3%A2-nachr-cytoplasmic-loop-antibody-in-the-degree-of-myasthenia-gravis
#3
Ye Lin, Chen Song, Jiang Xu, Yongxiang Yang, Hang Qin, Cong Zhao, Jiaji Lin, Rui Liu, Zhuyi Li
Anti‑nicotinic acetylcholine receptor (nAChR) antibody in myasthenia gravis (MG) usually refers to that against the extracellular domain (ECD) of nAChR. However, growing evidence has indicated that there also exists the nAChR antibody against the nAChR cytoplasmic loop (CL) in patients with MG. Some studies have demonstrated that the anti‑CL antibody may play a protective role in animal models of experimental autoimmune MG. However, to date, limited or no information is available as to whether anti‑CL antibody plays a beneficial role in patients with MG...
July 19, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28730784/single-center-retrospective-analysis-of-162-cases-with-thymoma-complicating-myasthenia-gravis
#4
Qing Lin, Ye Zhang, Liuchun Yang
PURPOSE: We conducted this study to retrospectively analyze the clinical effects of surgical resection for patients with myasthenia gravis (MG) complicated with thymoma. METHODS: 162 patients with myasthenia gravis complicated with thymoma, that were admitted to our hospital and underwent surgical disease resection from Nov. 1993 to Nov. 2015, were selected for this study. Analyzed were the pathology (2004 WHO), Masaoka clinical stage, myasthenia gravis types (Osserman types), myasthenic crisis during the perioperative period, and the relationship between recurrence and survival rates during follow-up visits...
May 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28729915/the-concomitant-association-of-thyroid-disorders-and-myasthenia-gravis
#5
Yu-Pei Lin, Usman Iqbal, Phung-Anh Nguyen, Md Mohaimenul Islam, Suleman Atique, Wen-Shan Jian, Yu-Chuan Jack Li, Chen-Ling Huang, Chung-Huei Hsu
BACKGROUND: Some of the thyroid disorders (TD) and Myasthenia gravis (MG) are autoimmune related disease. The purpose of the study to evaluate the relationship of MG with all morphological and functional thyroid disorders. METHODS: We constructed a population-based cohort study during the period from January 2000-December 2002 by using reimbursement data from the Bureau National Health Insurance (NHI) system in Taiwan. Patients with TD and MG were identified by referring to the ICD-9-CM codes...
2017: Translational Neuroscience
https://www.readbyqxmd.com/read/28726234/-current-status-of-congenital-myasthenic-syndromes
#6
REVIEW
M Bestue-Cardiel, D Natera-de Benito
Since Engel reported the first case of congenital myasthenia in 1977 and the first pathogenic gene was found in 1995, knowledge about congenital myasthenic syndromes has continued to grow. Over the years, the pathogenic basis, its clinical features, the phenotype-genotype correlations that have been established and its therapeutic management have all been described. In this group of diseases the safety margin of neuromuscular transmission is altered by different mechanisms: in the synthesis or storage of acetylcholine quanta in the synaptic vesicles, in the calcium-mediated release of acetylcholine in the nerve terminal or in the efficiency of the quantum released to generate a post-synaptic depolarisation...
August 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28719502/safety-of-quadrivalent-meningococcal-conjugate-vaccine-in-children-2-10-years
#7
Sara Y Tartof, Lina S Sy, Bradley K Ackerson, Rulin C Hechter, Mendel Haag, Jeffrey M Slezak, Yi Luo, Christine A Fischetti, Harp S Takhar, Yan Miao, Zendi Solano, Steven J Jacobsen, Hung-Fu Tseng
BACKGROUND: Quadrivalent meningococcal conjugate vaccine is recommended for children, adolescents, and adults at increased risk of meningococcal disease. In 2011, MenACWY-CRM (Menveo, GSK) was approved for children aged 2-10 years in the U.S. Although no safety concerns arose from clinical trials, it remains important to monitor its safety in routine clinical settings. METHODS: Kaiser Permanente Southern California members 2-10 years old who received MenACWY-CRM between September 2011 and September 2014 were included...
July 14, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28716258/a-multicenter-prospective-observational-study-on-the-safety-and-efficacy-of-tacrolimus-in-patients-with-myasthenia-gravis
#8
Suk-Won Ahn, In Soo Joo, Byung-Jo Kim, Jung-Joon Sung, Sa-Yoon Kang, Jeeyoung Oh, Yang-Ki Minn, Bum Chun Suh, Sun-Young Oh, Yoon-Ho Hong, Tai-Seung Nam, Jung Im Seok, Young-Eun Park, Ha Young Shin, Eun Bin Cho, Je-Young Shin, Hung Youl Seok, Jin-Sung Park, Ju-Hong Min, Jin-Myoung Seok, Byoung-Joon Kim
INTRODUCTION: Several clinical studies using tacrolimus revealed reasonable therapeutic mechanisms and efficacy in patients with myasthenia gravis (MG). However, long-period studies in a large number of patients with MG are limited; therefore, the aim of this study was to investigate the therapeutic efficacies and safety of tacrolimus in patients with MG during a 12-month follow-up period. METHODS: Tacrolimus was administered to 150 patients with MG who were recruited based on the inclusion criteria...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28707128/thymectomy-is-a-beneficial-therapy-for-patients-with-non-thymomatous-ocular-myasthenia-gravis-a-systematic-review-and-meta-analysis
#9
Kai Zhu, Jiaoxing Li, Xin Huang, Wei Xu, Weibin Liu, Jiaxin Chen, Pei Chen, Huiyu Feng
Ocular myasthenia gravis, an autoimmune disease, is characterized by extraocular muscle weakness. Myasthenia gravis is closely associated with the functional status of the thymus gland. The efficacy of thymectomy for non-thymomatous ocular myasthenia gravis remains controversial. Here, we present the first systematic review and meta-analysis of studies assessing the outcome of thymectomy in patients with non-thymomatous ocular myasthenia gravis and found that the pooled rate of complete stable remission was 0...
July 13, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28699002/a-bilateral-approach-to-extended-thymectomy-using-the-da-vinci-surgical-system-for-patients-with-myasthenia-gravis
#10
Koji Kawaguchi, Takayuki Fukui, Shota Nakamura, Tetsuo Taniguchi, Kohei Yokoi
PURPOSE: We adopted a bilateral approach to complete robotic extended thymectomy with the excision of the pericardial fat tissue from both sides and analyzed the initial outcomes. METHODS: The patient cart was docked first from the left shoulder side. After dissection of the thymus and right pericardial fat tissue, the cart was temporarily rolled out, and the bed was rotated approximately 90° clockwise. The cart was then re-docked from the right-side shoulder, and extended thymectomy was performed via the left-side approach...
July 11, 2017: Surgery Today
https://www.readbyqxmd.com/read/28698898/-myasthenia-gravis-should-be-considered-in-cases-of-parkinson-s-disease-and-progressive-dysphagia
#11
P P Urban, O Stammel
We report on four consecutive patients with Parkinson's disease, in whom anti-acetylcholine receptor (AChR) antibody positive bulbar myasthenia gravis (MG) turned out to be responsible for progressive dysphagia.
July 11, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28694075/double-seropositive-myasthenia-gravis-with-acetylcholine-receptor-and-low-density-lipoprotein-receptor-related-protein-4-antibodies-associated-with-invasive-thymoma
#12
Hidehiro Ishikawa, Akira Taniguchi, Yuichiro Ii, Osamu Higuchi, Hidenori Matsuo, Shunya Nakane, Masaru Asahi, Atsushi Niwa, Hidekazu Tomimoto
We describe two cases of myasthenia gravis (MG) with double seropositivity for acetylcholine receptor (AChR) and low-density lipoprotein receptor-related protein 4 (LRP4) antibodies (AChR/LRP4-MG) with invasive thymoma. Both cases showed myasthenic weakness, which was restricted to the ocular muscles for >5 months from onset, and then unprovoked severe clinical deterioration supervened with predominant bulbar symptoms. The patients responded adequately to therapeutic intervention. Serum AChR antibody levels at post-intervention were markedly decreased, whereas LRP4 antibodies were almost unchanged in case 1 and slightly decreased in case 2...
June 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28694074/memory-b-cell-resurgence-requires-repeated-rituximab-in-myasthenia-gravis
#13
Kohei Muto, Naoko Matsui, Yuki Unai, Waka Sakai, Shotaro Haji, Kengo Udaka, Hirokazu Miki, Takahiro Furukawa, Masahiro Abe, Ryuji Kaji
The immunologic effects of rituximab (RTX) in myasthenia gravis (MG) remain to be explored. We aimed to clarify immunologic reactions and their association with response to RTX in MG. Regulatory T cell and B cell profiles of MG patients were monitored. Two patients presenting with generalized MG with anti-acetylcholine receptor antibodies were treated with RTX. The treatment led to sustained clinical improvement, discontinuation of intravenous immunoglobulin or plasma exchange, and reduction of prednisolone and other drugs...
June 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28694035/assessment-of-the-itmig-statement-on-the-who-histological-classification-and-of-the-8th-tnm-staging-of-thymic-epithelial-tumors-of-a-series-of-188-thymic-epithelial-tumors
#14
Alexandra Meurgey, Nicolas Girard, Claire Merveilleux du Vignaux, Jean-Michel Maury, François Tronc, Françoise Thivolet-Bejui, Lara Chalabreysse
BACKGROUND: Thymic epithelial tumors (TETs) are rare intrathoracic malignancies which are categorized histologically according to the World Health Organization (WHO) classification, recently updated in 2015 based on a consensus statement of ITMIG; at the same time, the standard Masaoka-Koga staging system is intended to be replaced by the 8th edition of the TNM staging classification by the American Joint Committee on Cancer (AJCC)/Union Internationale Contre le Cancer (UICC) consortium...
July 7, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28691986/the-role-of-sugammadex-in-symptomatic-transient-neonatal-myasthenia-gravis-a-case-report
#15
Jamie E Rubin, Radhamangalam J Ramamurthi
We describe the case of a 3-week-old boy with pyloric stenosis who presented for laparoscopic pyloromyotomy in the setting of symptomatic transient neonatal myasthenia gravis. The patient received muscle relaxation with rocuronium, and neuromuscular blockade was successfully reversed with sugammadex with recovery guided by train-of-four monitoring. He was extubated uneventfully without complications. Because sugammadex binds directly to rocuronium rather than interfering with acetylcholine metabolism, it might provide a good option for reversal of neuromuscular blockade in transient neonatal myasthenia gravis...
July 6, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28687435/evaluation-of-coexisting-polymyositis-in-feline-myasthenia-gravis-a-case-series
#16
Vincent Mayousse, Aurélien Jeandel, Nicolas Blanchard-Gutton, Catherine Escriou, Kirsten Gnirs, G Diane Shelton, Stéphane Blot
Acquired myasthenia gravis (MG) is relatively uncommon in cats. In humans, MG may be associated with other immune-mediated disorders, in particular polymyositis (PM). In this study, we described in-depth electrodiagnostic findings and pathological changes in muscles of cats diagnosed with MG, and assessed the presence of concurrent PM. Six cats with confirmed acetylcholine receptor antibody seropositive MG, and two suspected cases with clinical signs and electrophysiological changes consistent with MG, were reviewed...
June 16, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28682883/nivolumab-induced-myasthenia-gravis-in-a-patient-with-squamous-cell-lung-carcinoma-case-report
#17
Yu-Hsiu Chen, Feng-Cheng Liu, Chang-Hung Hsu, Chih-Feng Chian
RATIONALE: Nivolumab (Nivo) is an immune checkpoint inhibitor that has been used to treat advanced melanoma, nonsmall cell lung carcinoma, and renal cell carcinoma since 2015. Nivo is associated with several side effects, including hepatitis, pneumonitis, acute renal failure, endocrine disorder, and other immune-related adverse events. Here, we describe the case of a 65-year-old man with squamous cell lung carcinoma who developed myasthenia gravis (MG) after a third Nivo infusion. PATIENT CONCERNS: A 65-year-old man with advanced squamous cell lung carcinoma developed ptosis, diplopia, drop head, and general weakness 5 days after a third Nivo infusion...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28678751/association-between-cd40-rs1883832-and-immune-related-diseases-susceptibility-a-meta-analysis
#18
Jiaxuan Qin, Jinchun Xing, Rongfu Liu, Bin Chen, Yuedong Chen, Xuan Zhuang
BACKGROUND/OBJECTIVE: It has been reported that CD40 rs1883832 might be associated with immune-related diseases susceptibility. Owing to mixed and inconclusive results, we conducted a meta-analysis of case-control studies to summarize and clarify this association.Methods/main results: A systematic search of studies on the association between CD40 rs1883832 and immune-related diseases susceptibility was conducted in databases. Odds ratios and 95% confidence intervals were used to pool the effect size...
June 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28675961/maxillary-deformity-following-cpap-treatment-in-myasthenia-gravis
#19
Yaron Haviv, Shirley Leibovitz, Galit Almoznino, Yair Sharav, Uri Zilberman
OBJECTIVE: Patients with Myasthenia gravis (MG) are characterized by muscle weakness that may cause obstructive sleep apnea (OSA). The use of a continuous positive airway pressure (CPAP) device is often needed in order to maintain free breathing during the night and sometimes even during the day. CLINICAL PRESENTATION: A 29-year-old MG patient is presented who used a CPAP continuously since the age of 12. Tight fitting of a nasal mask applied enough force to cause severe maxillary deformity...
July 4, 2017: Cranio: the Journal of Craniomandibular Practice
https://www.readbyqxmd.com/read/28674368/thymoma-associated-progressive-encephalomyelitis-with-rigidity-and-myoclonus-perm-with-myasthenia-gravis
#20
Satoshi Morise, Masataka Nakamura, Jun-Ichi Morita, Kousuke Miyake, Takenobu Kunieda, Satoshi Kaneko, Hirofumi Kusaka
We report a case of a 72-year-old woman who initially presented with symptoms of bulbar myasthenia and was positive for anti-acetylcholine receptor antibodies. She subsequently developed painful muscle spasms, myoclonus, and stiffness. Thymoma was detected, and both anti-glycine receptor and anti-glutamic acid decarboxylase antibodies were found. She was diagnosed with thymoma-associated progressive encephalomyelitis with rigidity and myoclonus (PERM). She experienced marked improvement after thymectomy followed by plasma exchange and intravenous immunoglobulin and prednisolone...
2017: Internal Medicine
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