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https://www.readbyqxmd.com/read/29150079/mechanism-hypotheses-for-the-electrophysiological-manifestations-of-two-cases-of-endplate-acetylcholinesterase-deficiency-related-congenital-myasthenic-syndrome
#1
Qingyun Ding, Dongchao Shen, Yi Dai, Youfang Hu, Yuzhou Guan, Mingsheng Liu, Liying Cui
OBJECTIVE: To summarize the electrophysiological characteristics of two cases of endplate acetylcholinesterase deficiency (EAD) related congenital myasthenic syndrome (CMS) caused by COLQ mutation and to discuss the possible mechanism of these electrophysiological phenomena. METHODS: Electrophysiological examinations were conducted including nerve conduction studies, routine electromyography (EMG), repetitive nerve stimulation (RNS) and single fiber EMG (SFEMG)...
November 14, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29130637/how-chromosomal-deletions-can-unmask-recessive-mutations-deletions-in-10q11-2-associated-with-chat-or-slc18a3-mutations-lead-to-congenital-myasthenic-syndrome
#2
Mathias Schwartz, Damien Sternberg, Sandra Whalen, Alexandra Afenjar, Arnaud Isapof, Brigitte Chabrol, Marie-France Portnoï, Solveig Heide, Boris Keren, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi
A congenital myasthenia was suspected in two unrelated children with very similar phenotypes including several episodes of severe dyspnea. Both children had a 10q11.2 deletion revealed by Single Nucleotide Polymorphisms array or by Next Generation Sequencing analysis. The deletion was inherited from the healthy mother in the first case. These deletions unmasked a recessive mutation at the same locus in both cases, but in two different genes: CHAT and SLC18A3.
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29125502/congenital-myasthenic-syndromes-or%C3%A2-inherited-disorders-of-neuromuscular-transmission-recent-discoveries-and%C3%A2-open%C3%A2-questions
#3
Sophie Nicole, Yoshiteru Azuma, Stéphanie Bauché, Bruno Eymard, Hanns Lochmüller, Clarke Slater
Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neuromuscular junction (NMJ). The number of genes known to cause CMS when mutated is currently 30, and the relationship between fatigable muscle weakness and defective functions is quite well-understood for many of them. However, some of the most recent discoveries in individuals with CMS challenge our knowledge of the NMJ, where the basis of the pathology has mostly been investigated in animal models...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29125190/lambert-eaton-myasthenic-syndrome-mouse-passive-transfer-model-illuminates-disease-pathology-and-facilitates-testing-therapeutic-leads
#4
REVIEW
Stephen D Meriney, Tyler B Tarr, Kristine S Ojala, Man Wu, Yizhi Li, David Lacomis, Adolfo Garcia-Ocaña, Mary Liang, Guillermo Valdomir, Peter Wipf
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disorder caused by antibodies directed against the voltage-gated calcium channels that provide the calcium ion flux that triggers acetylcholine release at the neuromuscular junction. To study the pathophysiology of LEMS and test candidate therapeutic strategies, a passive-transfer animal model has been developed in mice, which can be created by daily intraperitoneal injections of LEMS patient serum or IgG into mice for 2-4 weeks. Results from studies of the mouse neuromuscular junction have revealed that each synapse has hundreds of transmitter release sites but that the probability for release at each one is likely to be low...
November 10, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29118959/congenital-myasthenic-syndrome-due-to-dok7-mutations-in-a-family-from-chile
#5
Jorge A Bevilacqua, Marian Lara, Jorge Díaz, Mario Campero, Jessica Vázquez, Ricardo A Maselli
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness, and scoliosis since childhood. Another female sibling had milder signs, while other family members were asymptomatic. Facial nerve repetitive stimulation in the proband showed decrement of muscle responses. Single fiber EMG revealed increased jitter and blocking...
June 27, 2017: European Journal of Translational Myology
https://www.readbyqxmd.com/read/29106491/short-term-outcomes-of-single-versus-multi-port-video-assisted-thoracic-surgery-in-mediastinal-diseases
#6
Qiuyuan Li, Alan Sihoe, Haifeng Wang, Diego Gonzalez-Rivas, Yuming Zhu, Dong Xie, Gening Jiang
OBJECTIVES: Although there is growing interest in single-port video-assisted thoracic surgery for a number of thoracic operations, there is still not enough known about its use for mediastinal pathologies. The present study was aimed at assessing the safety and efficacy of single-port video-assisted thoracic surgery in comparison with the multi-port variants in terms of short-term perioperative outcomes. METHODS: From July 2013 to December 2015, 285 consecutive non-myasthenic adult patients undergoing single- or multi-port video-assisted thoracic surgery for mediastinal diseases including thymoma were retrospectively reviewed...
June 30, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29100295/the-correlation-of-neutrophil-to-lymphocyte-ratio-with-the-presence-and-activity-of-myasthenia-gravis
#7
De-Hao Yang, Mei-Zi Qian, Mao-Mao Wei, Jia Li, Meng-Meng Yu, Xue-Mian Lu, Hong Yang, Hai Lin, Xiang Li, Jun-Yan Zhu, Xu Zhang
Though the pathogenesis of myasthenia gravis (MG) is not fully understood, the role of inflammation has been well appreciated in the development of MG. We aimed to investigate the role of neutrophil-to-lymphocyte ratio (NLR) in MG patients and the relationship between the NLR and the activity of the disease. A total number of 172 MG patients and 207 healthy controls (HC) were enrolled in this study. The MG patients were divided into tertiles according to NLR (low NLR < 1.58, n = 57; intermediate NLR 1.58-2...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29096852/therapeutic-plasma-exchange-in-a-rare-case-myasthenic-crisis-after-botox-injection
#8
Azita Chegini
BACKGROUND AND AIMS: Botulinum toxin (Botox) injections are used as a cosmetic treatment to decrease wrinkles in face and chin. Being a neurotoxic agent it minimizes muscle activity, while side effects are usually rare. This article subsequently presents one case of these rare effects. CASE: A 30-year-old woman presenting with ptosis, diplopia, dysarthria, dysphagia and muscle weakness was admitted to our hospital. She had no history of disease. For cosmetic reasons, she had three Botox injections during the preceding months...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29093415/a-case-of-paraneoplastic-cerebellar-degeneration-and-lambert-eaton-myasthenic-syndrome-associated-with-neuroendocrine-carcinoma-of-the-oropharynx
#9
Junji Takasugi, Munehisa Shimamura, Toru Koda, Toshihiro Kishikawa, Atsushi Hanamoto, Hidenori Inohara, Kazuaki Sato, Eiichi Morii, Masakatsu Motomura, Manabu Sakaguchi, Yuji Nakatsuji, Hideki Mochizuki
Paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenic syndrome (PCD-LEMS) are usually associated with small-cell lung carcinoma (SCLC). PCD-LEMS with extrapulmonary non-SCLC tumors; however, has not been previously reported. A 78-year-old man presented with dysarthria, dysphagia, staggering gait, and lower extremity muscle fatigue. He was diagnosed with PCD-LEMS associated with neuroendocrine carcinoma of the oropharynx, based on the histological findings of the biopsy, the existence of antibodies against P/Q-type voltage-gated calcium channels, and an incremental response of the compound muscle action potentials during repetitive nerve stimulation tests...
November 1, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29093409/myasthenic-crisis-complicated-with-myxedema-positive-for-both-anti-acetylcholine-receptor-and-anti-muscle-specific-tyrosine-kinase-antibodies-a-case-report
#10
Kazuhiro Horiuchi, Azusa Nagai, Masahiro Wakita, Shotaro Ito, Kei Takamura, Hideki Houzen
We herein report the case of myasthenic crisis occurring in a 51-year-old man. He had experienced ptosis, increased body weight with edema, and fatigue with dyspnea. He presented at our emergency department with disturbed consciousness. He was originally diagnosed with myxedema coma, and he required artificial respiration. Because his weakness persisted and he was positive for anti-acetylcholine receptor antibodies and anti-muscle-specific tyrosine kinase antibodies, we diagnosed myasthenic crisis after various examinations...
November 1, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29090216/congenital-myasthenic-syndrome-in-a-mixed-breed-dog
#11
Theresa J Blakey, Jennifer R Michaels, Ling T Guo, Amy J Hodshon, G Diane Shelton
A 6-month-old, male, intact mixed breed dog was presented for a 3-month history of progressive generalized weakness. Neurologic examination revealed non-ambulatory tetraparesis, weakness of the head and neck, and decreased withdrawal reflexes in all limbs consistent with a generalized neuromuscular disorder. Electromyography and motor nerve conduction velocity were normal. Repetitive nerve stimulation showed a decremental response of the compound muscle action potential with improvement upon intravenous administration of edrophonium chloride...
2017: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/29083502/a-clinical-predictive-score-for-postoperative-myasthenic-crisis
#12
Tetsuya Kanai, Akiyuki Uzawa, Yasunori Sato, Shigeaki Suzuki, Naoki Kawaguchi, Keiichi Himuro, Fumiko Oda, Yukiko Ozawa, Jin Nakahara, Norihiro Suzuki, Yuko K Takahashi, Satoru Ishibashi, Takanori Yokota, Takashi Ogawa, Kazumasa Yokoyama, Nobutaka Hattori, Shoko Izaki, Satoru Oji, Kyoichi Nomura, Juntaro Kaneko, Kazutoshi Nishiyama, Ichiro Yoshino, Satoshi Kuwabara
OBJECTIVE: Myasthenia gravis (MG) is an autoimmune disease mostly caused by autoantibodies against acetylcholine receptor associated with thymus abnormalities. Thymectomy has been proven to be an efficacious treatment for patients with MG, but postoperative myasthenic crisis often occurs and is a major complication. We aimed to develop and validate a simple scoring system based on clinical characteristics in the preoperative status to predict the risk of postoperative myasthenic crisis...
October 30, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29078673/the-results-of-video-assisted-thoracoscopic-thymectomies-in-saint-petersburg-russia-20-year-of-experience
#13
Piotr Yablonsky, Vadim Pischik, Marina G Tovbina, Mikhail Atiukov
BACKGROUND: During the period from 1996 to 2016, we have performed 281 thymectomies in patients with various diseases of the thymus. In 179 patients, thymic pathology was associated with autoimmune myasthenia gravis (MG), and, in 108 patients, thymoma was diagnosed. METHODS: The majority of surgeries [254] were performed using video thoracoscopy, 79 of them with an additional cervical approach. The long-term results of video thoracoscopic thymectomies in myasthenic patients were followed up for 1 to 15...
2017: J Vis Surg
https://www.readbyqxmd.com/read/29078631/robotic-thymectomy
#14
REVIEW
Giuseppe Marulli, Giovanni Maria Comacchio, Federico Rea
Thymectomy is the most frequent surgical operation involving the mediastinum, both for the treatment of thymic tumors and for the multidisciplinary management of myasthenia gravis (MG). Different surgical approaches have been described, either traditional open approaches or minimally invasive ones. Robotic thymectomy represents a further step in the evolution of minimally invasive surgery. Available data show that robotic thymectomy may be considered a safe and feasible operation, with encouraging long-term results in myasthenic patients and promising results in patients with early stage thymoma, both in terms of surgical and oncological outcomes...
2017: J Vis Surg
https://www.readbyqxmd.com/read/29054425/molecular-characterization-of-congenital-myasthenic-syndromes-in-spain
#15
D Natera-de Benito, A Töpf, J J Vilchez, L González-Quereda, J Domínguez-Carral, J Díaz-Manera, C Ortez, M Bestué, P Gallano, M Dusl, A Abicht, J S Müller, J Senderek, A García-Ribes, N Muelas, T Evangelista, Y Azuma, G McMacken, A Paipa Merchan, P M Rodríguez Cruz, A Camacho, E Jiménez, M C Miranda-Herrero, A Santana-Artiles, O García-Campos, R Dominguez-Rubio, M Olivé, J Colomer, D Beeson, H Lochmüller, A Nascimento
Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain. Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five of them not reported so far...
August 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29053879/decrement-with-high-frequency-repetitive-nerve-stimulation-in-a-rapsn-congenital-myasthenic-syndrome
#16
Samantha J LoRusso, Stanley J Iyadurai
No abstract text is available yet for this article.
October 20, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29040921/effect-of-local-cooling-on-excitation-contraction-coupling-in-myasthenic-muscle-another-mechanism-of-ice-pack-test-in-myasthenia-gravis
#17
Daisuke Yamamoto, Tomihiro Imai, Emiko Tsuda, Takayoshi Hozuki, Rika Yamauchi, Shin Hisahara, Jun Kawamata, Shun Shimohama
OBJECTIVE: The ice-pack test is a convenient diagnostic testing procedure for myasthenia gravis (MG). We investigated the underlying mechanism of the ice-pack test performed on bilateral masseters. METHODS: We performed trigeminal repetitive nerve stimulation (RNS), excitation-contraction (E-C) coupling assessment (Imai's method) and bite force measurement before and after cooling of the masseters in MG patients and normal controls. After placing the ice-pack on the masseters for 3min, serial recordings of the three tests were performed at various time intervals during 10min after cooling...
September 22, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29036836/a-panel-of-slow-channel-congenital-myasthenic-syndrome-mice-reveals-a-unique-locomotor-behavioral-signature
#18
José G Grajales-Reyes, Aurian García-González, José C María-Ríos, Gary E Grajales-Reyes, Manuel Delgado-Vélez, Carlos A Báez-Pagán, Orestes Quesada, Christopher M Gómez, José A Lasalde-Dominicci
Muscle nicotinic acetylcholine receptor (nAChR) mutations can lead to altered channel kinetics and neuromuscular junction degeneration, a neurodegenerative disorder collectively known as slow-channel congenital myasthenic syndrome (SCCMS). A multivariate analysis using running wheels was used to generate activity profiles for a variety of SCCMS models, uncovering unique locomotor patterns for the different nAChR mutants. Particularly, the αL251T and ɛL269F mutations exhibit decreased event distance, duration, and velocity over a period of 24 hours...
October 13, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29030770/diagnostics-of-myasthenic-syndromes-detection-of-anti-achr-and-anti-musk-antibodies
#19
REVIEW
Francesca Andreetta, Elena Rinaldi, Emanuela Bartoccioni, Anna Pia Riviera, Elena Bazzigaluppi, Raffella Fazio, Giovanni Deiana, Alessandro Pini, Maria Grazia Giudizi, Fulvio Baggi
This paper presents the Italian guidelines for autoantibody testing in myasthenia gravis that have been developed following a consensus process built on questionnaire-based surveys, internet contacts and discussions during dedicated workshops of the sponsoring Italian Association of Neuroimmunology (AINI). Essential clinical information on myasthenic syndromes, indications and limits of antibody testing, instructions for result interpretation and an agreed laboratory protocol (Appendix) are reported for the communicative community of neurologists and clinical pathologists...
October 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29017138/pitfalls-and-errors-in-measuring-jitter
#20
REVIEW
Erik Stålberg, Donald B Sanders, João Aris Kouyoumdjian
The safety factor of neuromuscular transmission can be assessed by measuring the neuromuscular jitter, which reflects the time variability of processes in the motor end-plate. Jitter is increased in any condition with disturbed end-plate function, such as myasthenic conditions and ongoing reinnervation. Jitter is increasingly being measured with concentric needle (CN) electrodes, which are more prone to artefacts than single fiber EMG recordings. The objective of this review is to identify and demonstrate pitfalls that can be seen with CN jitter measurements, made with both voluntary activation and electrical stimulation...
September 21, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
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