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https://www.readbyqxmd.com/read/28937031/a-novel-agrn-mutation-leads-to-congenital-myasthenic-syndrome-only-affecting-limb-girdle-muscle
#1
Ying Zhang, Yi Dai, Jing-Na Han, Zhao-Hui Chen, Li Ling, Chuan-Qiang Pu, Li-Ying Cui, Xu-Sheng Huang
BACKGROUND: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous disorders caused by impaired neuromuscular transmission. The defect of AGRN was one of the causes of CMS through influencing the development and maintenance of neuromuscular transmission. However, CMS reports about this gene mutation were rare. Here, we report a novel homozygous missense mutation (c.5302G>C) of AGRN in a Chinese CMS pedigree. METHODS: We performed a detailed clinical assessment of a Chinese family with three affected members...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28930822/five-years-experience-on-3-4-diaminopyridine-phosphate-in-lambert-eaton-syndrome-case-reports
#2
Simona Portaro, Teresa Brizzi, Stefano Sinicropi, Alberto Cacciola, Maria Cristina De Cola, Alessia Bramanti, Demetrio Milardi, Antonino Lupica, Placido Bramanti, Antonio Toscano, Carmelo Rodolico
RATIONALE: To report our experience on 7 patients (4 males and 3 females), affected by nonparaneoplastic Lambert-Eaton myasthenic syndrome, treated with 3,4-diaminopyridine phosphate (3,4-DAPP) either alone or in combination with other immunosuppressants or steroids. PATIENT CONCERNS: Patients have been evaluated at specific timepoints (ie, baseline and last 5 year follow-up), with neurological examination, autoantibodies against presynaptic voltage-gated Cav2.1 (P/Q type) calcium ion channel (VGCC) dosage, neurophysiological evaluation focusing on the increased amplitude of the compound muscle action potential (cMAP) after maximum voluntary effort, quantitative myasthenia gravis (QMG) and activities of daily living scales, and autonomic nervous system involvement evaluation...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28916122/myasthenia-gravis-and-crisis-evaluation-and-management-in-the-emergency-department
#3
Jamie Roper, M Emily Fleming, Brit Long, Alex Koyfman
BACKGROUND: Myasthenia gravis (MG) is an uncommon autoimmune disorder affecting the neuromuscular junction and manifesting as muscle weakness. A multitude of stressors can exacerbate MG. When symptoms are exacerbated, muscle weakness can be severe enough to result in respiratory failure, a condition known as myasthenic crisis (MC). OBJECTIVE: This review discusses risk factors, diagnosis, management, and iatrogenic avoidance of MC. DISCUSSION: MC can affect any age, ethnicity, or sex and can be precipitated with any stressor, infection being the most common...
September 12, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28889642/treating-pediatric-neuromuscular-disorders-the-future-is-now
#4
REVIEW
James J Dowling, Hernan D Gonorazky, Ronald D Cohn, Craig Campbell
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review. This includes disorders of the anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g., Charcot-Marie-Tooth disease), the neuromuscular junction (e.g., congenital myasthenic syndrome), and the muscle (myopathies and muscular dystrophies)...
September 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28884711/-clinical-polymorphism-of-amyotrophic-lateral-sclerosis
#5
E A Kovrazhkina, O D Razinskaya, L V Gubsky
AIM: To clarify clinical polymorphism of amyotrophic lateral sclerosis (ALS). MATERIAL AND METHODS: The study was based on records of a hospital personalized register. Ninety-four patients, aged from 25 to 81 years, diagnosed with ALS according to El Escorial criteria were included. Electromyography and, if necessary, transcranial magnetic stimulation and magnetic-resonance tomography were used to confirm the diagnosis. Disease progression was assessed with the ARSFRS...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28872098/is-a-diagnostic-video-assisted-thoracoscopic-thymectomy-an-acceptable-first-line-approach-to-the-suspicious-anterior-mediastinal-mass
#6
Ricky Vaja, Vijay Joshi, Alan G Dawson, David A Waller
INTRODUCTION: The incidental early-stage thymic mass presents a diagnostic challenge. Video-assisted thoracoscopic (VAT) thymectomy is an attractive but potentially morbid solution. The aim was to show it can be safely applied as a first-line modality in those with undiagnosed thymic enlargement with acceptable long-term results. METHODS: A total of 45 patients were identified (24 male, median age 52 interquartile range [IQR]: 41-66 years) in a 14-year experience who had CT evidence of an enlarged, possibly malignant thymic mass, but no tissue diagnosis before undertaking VAT thymectomy...
October 2017: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/28838625/-which-surgery-for-mediastinum-tumor-experience-of-the-department-of-thoracic-surgery-of-chu-hassan-ii-of-f%C3%A3-s
#7
S Rabiou, M Lakranbi, T Ghizlane, H Elfatemi, M Serraj, Y Ouadnouni, M Smahi
INTRODUCTION: Tumors of the mediastinum are a heterogeneous group of dysembryoplatic and neoplastic diseases essentially with different prognoses and therapeutic. These tumors develop slowly and remain long asymptomatic in 40-50% of cases. The purpose of our work is to bring the result of surgical management in diagnostic and therapeutic of principal mediastinum tumors framework. PATIENTS AND METHOD: We reviewed retrospectively the records of 68 patients in our training, between January 2009 and December 2013, for tumor of the mediastinum in the diagnostic framework and or therapy...
August 21, 2017: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/28830630/false-positive-immunoassay-for-acetyl-choline-receptor-antibody-achr-ab-in-patients-exposed-to-polyvalent-antisnake-venom
#8
Kaushik Sundar, Shankar Venkatasubramanian, Sundar Shanmugam, Preetam Arthur, Ramakrishnan Subbaraya, Philo Hazeena
Acute flaccid paralysis is a neuromuscular emergency characterized by rapidly worsening weakness that evolves quickly to cause diaphragmatic failure. The challenge for the treating physician is to stabilize the patient, generate the differential diagnosis and determine the management; all in quick time. Neurotoxic snake bites have inadequate signs of inflammation and are easily missed. Myasthenic crisis, on the other hand, could be the first sign of myasthenia gravis in up to 20% of patients. Both present with acute respiratory failure and inadequate history...
August 18, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28821685/nivolumab-related-myasthenia-gravis-with-myositis-and-myocarditis-in-japan
#9
Shigeaki Suzuki, Nobuhisa Ishikawa, Fumie Konoeda, Nobuhiko Seki, Satoshi Fukushima, Kikuko Takahashi, Hisashi Uhara, Yoshikazu Hasegawa, Shinichiro Inomata, Yasushi Otani, Kenji Yokota, Takashi Hirose, Ryo Tanaka, Norihiro Suzuki, Makoto Matsui
OBJECTIVE: To report the clinical features of myasthenia gravis (MG) induced by treatment with immune checkpoint inhibitors using 2-year safety databases based on postmarketing surveys in Japan. METHODS: We studied 10,277 patients with cancer who had received monotherapy with either nivolumab or ipilimumab between September 2014 and August 2016. As the control group, 105 patients with idiopathic MG were used. RESULTS: There were 12 MG cases (0...
September 12, 2017: Neurology
https://www.readbyqxmd.com/read/28803488/clinical-outcome-and-predictive-factors-of-postoperative-myasthenic-crisis-in-173-thymomatous-myasthenia-gravis-patients-myasthenic-crisis-in-thymomatous-patients
#10
Yan Li, Haiyan Wang, Pei Chen, Zhenguang Chen, Chunhua Su, Chuanming Luo, Huiyu Feng, Weibin Liu
PURPOSE: Thymectomy is the first-line therapy for thymomatous myasthenia gravis patients. The aim of this study is to explore the clinical outcome and predictors of postoperative myasthenic crisis (POMC) in these patients. METHOD: Clinical data of 173 thymomatous myasthenia gravis patients undergoing thymectomy from January 2000 to March 2013 were retrospectively reviewed. Variables potentially affecting the occurrence of POMC were evaluated using binary logistic regression analysis...
August 14, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28789662/predictive-factors-of-prolonged-mechanical-ventilation-overall-survival-and-quality-of-life-in-patients-with-post-thymectomy-myasthenic-crisis
#11
Kun-Kun Li, Kai Qian, Yong-Geng Feng, Wei Guo, Qun-You Tan, Bo Deng
BACKGROUND: Thymectomy is the primary approach for the treatment of myasthenia gravis (MG). This retrospective study aimed to identify the clinical and demographical features that may impact the duration of mechanical ventilation (DMV), the long-term survival, and the quality of life (QOL) in patients with post-thymectomy myasthenic crisis (PTMC). METHODS: We reviewed the patients who suffered from PTMC from June 2008 to November 2015. Cox proportional hazard regression analysis was used to identify potential prognostic factors that may impact DMV and long-term survival...
August 8, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28780706/validity-reliability-and-sensitivity-to-change-of-the-myasthenia-gravis-activities-of-daily-living-profile-in-a-sample-of-italian-myasthenic-patients
#12
Alberto Raggi, Carlo Antozzi, Fulvio Baggi, Matilde Leonardi, Lorenzo Maggi, Renato Mantegazza
The purpose of this study is to report on the validity, reliability, and sensitivity of the myasthenia gravis activities of daily living profile (MG-ADL) in a sample of Italian patients. Patients with myasthenia gravis (MG) completed a protocol that included the MG-ADL, the WHO Disability Assessment Schedule (WHODAS 2.0), the Besta Neurological Institute rating scale for myasthenia gravis, and the MG-composite. Cronbach's alpha was used to test reliability, Spearman's correlation and intra-class correlation coefficient (ICC) to test short-term test-retest, Kruskal-Wallis test to assess differences in MG-ADL between patients with different disease severity, and Wilcoxon signed-rank test to assess sensitivity to change...
August 5, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28756524/muscle-satellite-cells-are-functionally-impaired-in-myasthenia-gravis-consequences-on-muscle-regeneration
#13
Mohamed Attia, Marie Maurer, Marieke Robinet, Fabien Le Grand, Elie Fadel, Rozen Le Panse, Gillian Butler-Browne, Sonia Berrih-Aknin
Myasthenia gravis (MG) is a neuromuscular disease caused in most cases by anti-acetyl-choline receptor (AChR) autoantibodies that impair neuromuscular signal transmission and affect skeletal muscle homeostasis. Myogenesis is carried out by muscle stem cells called satellite cells (SCs). However, myogenesis in MG had never been explored. The aim of this study was to characterise the functional properties of myasthenic SCs as well as their abilities in muscle regeneration. SCs were isolated from muscle biopsies of MG patients and age-matched controls...
July 29, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28755803/sleep-in-infants-with-congenital-myasthenic-syndromes
#14
Serena Caggiano, Sonia Khirani, Elisabetta Verrillo, Christine Barnerias, Alessandro Amaddeo, Cyril Gitiaux, Briac Thierry, Isabelle Desguerre, Renato Cutrera, Brigitte Fauroux
BACKGROUND AND OBJECTIVES: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained event (BRUE) and sleep-disordered breathing. The aim of the study was to explore sleep in infants with CMS with a particular focus on heart rate (HR) variability. METHODS: Overnight polygraphy was performed and HR variations associated with respiratory events were analysed. Bradycardia and tachycardia were defined as a variation of HR of ±10 bpm from baseline and analysed as events/hour...
July 21, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28733338/early-and-lethal-neurodegeneration-with-myasthenic-and-myopathic-features-a-new-alg14-cdg
#15
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/28730784/single-center-retrospective-analysis-of-162-cases-with-thymoma-complicating-myasthenia-gravis
#16
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/28726234/-current-status-of-congenital-myasthenic-syndromes
#17
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/28712002/mutations-in-gfpt1-related-congenital-myasthenic-syndromes-are-associated-with-synaptic-morphological-defects-and-underlie-a-tubular-aggregate-myopathy-with-synaptopathy
#18
Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie-Joséphine Fontenille, Elodie De Bruyckere, Claire-Sophie Davoine, Guy Brochier, Julien Messéant, Lucie Wolf, Michel Fardeau, Emmanuelle Lacène, Norma Romero, Jeanine Koenig, Emmanuel Fournier, Daniel Hantaï, Nathalie Streichenberger, Veronique Manel, Arnaud Lacour, Aleksandra Nadaj-Pakleza, Sylvie Sukno, Françoise Bouhour, Pascal Laforêt, Bertrand Fontaine, Laure Strochlic, Bruno Eymard, Frédéric Chevessier, Tanya Stojkovic, Sophie Nicole
Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregates (TAs) characterized predominantly by affection of the proximal skeletal muscles and presence of highly organized and remodeled sarcoplasmic tubules in patients' muscle biopsies. We report here the first long-term clinical follow-up of 11 French individuals suffering from LG-CMS with TAs due to GFPT1 mutations, of which nine are new...
August 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28695360/erratum-to-lambert-eaton-myasthenic-syndrome-lems-a-rare-autoimmune-presynaptic-disorder-often-associated-with-cancer
#19
Benedikt Schoser, Bruno Eymard, Joe Datt, Renato Mantegazza
No abstract text is available yet for this article.
September 2017: Journal of Neurology
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
#20
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
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