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myasthenic syndrome

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https://www.readbyqxmd.com/read/29332184/neurologic-complications-of-immune-checkpoint-inhibitors
#1
Avi Fellner, Chen Makranz, Michal Lotem, Felix Bokstein, Alisa Taliansky, Shai Rosenberg, Deborah T Blumenthal, Jacob Mandel, Suzana Fichman, Elena Kogan, Israel Steiner, Tali Siegal, Alexander Lossos, Shlomit Yust-Katz
Immune checkpoint inhibitors (ICPIs) have recently emerged as a novel treatment for cancer. These agents, transforming the field of oncology, are not devoid of toxicity and cause immune-related side effects which can involve any organ including the nervous system. In this study, we present 9 patients (7 men and 2 women) with neurologic complications secondary to ICPI treatment. These included meningoencephalitis, limbic encephalitis, polyradiculitis, cranial polyneuropathy, myasthenic syndrome and myositis...
January 13, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29315608/clinical-and-research-strategies-for-limb-girdle-congenital-myasthenic-syndromes
#2
REVIEW
Emily O'Connor, Ana Töpf, René Zahedi, Sally Spendiff, Daniel Cox, Andreas Roos, Hanns Lochmüller
Congenital myasthenic syndromes (CMS) are a group of rare disorders that cause fatigable muscle weakness due to defective signal transmission at the neuromuscular junction, a specialized synapse between peripheral motor neurons and their target muscle fibers. There are now over 30 causative genes that have been reported for CMS. Of these, there are 10 that are associated with a limb-girdle pattern of muscle weakness and are thus classed as LG-CMS. Next-generation sequencing and advanced methods of data sharing are likely to uncover further genes that are associated with similar clinical phenotypes, contributing to better diagnosis and effective treatment of LG-CMS patients...
January 5, 2018: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29313588/paraneoplastic-inverse-myasthenic-syndrome-as-a-presentation-of-bronchogenic-carcinoma
#3
G S Chowdhary, Malav Jhala
Tumours may produce growth factors and cytokines responsible for signs and symptoms distant to the primary or metastatic site. This may be the first sign of a malignancy and its recognition may be critical for early cancer detection. Moreover, proper diagnosis spares the patient of extensive and expensive search for an alternate cause of the neurological dysfunction. In neurological paraneoplastic syndromes like Lambert Eaton Myasthenic syndrome associated with small cell lung cancer, evidence of autoimmunity against presynaptic neuro-muscular junction by anti voltage gated calcium channel anti bodies is well documented...
September 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29311015/tubular-aggregates-in-congenital-myasthenic-syndrome
#4
Amalia Feresiadou, Olivera Casar-Borota, Anca Dragomir, Carola Hedberg Oldfors, Erik Stålberg, Anders Oldfors
No abstract text is available yet for this article.
November 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29307077/analysis-of-ct-features-and-quantitative-texture-analysis-in-patients-with-thymic-tumors-correlation-with-grading-and-staging
#5
Angelo Iannarelli, Beatrice Sacconi, Francesca Tomei, Marco Anile, Flavia Longo, Mario Bezzi, Alessandro Napoli, Luca Saba, Michele Anzidei, Giulia D'Ovidio, Roberto Scipione, Carlo Catalano
OBJECTIVES: To evaluate potential relationship between qualitative CT features, quantitative texture analysis (QTA), histology, WHO staging, Masaoka classification and myasthenic syndrome in patients with thymic tumors. MATERIALS AND METHODS: Sixteen patients affected by histologically proven thymic tumors were retrospectively included in the study population. Clinical information, with special regard to myasthenic syndrome and serological positivity of anti-AchR antibodies, were recorded...
January 6, 2018: La Radiologia Medica
https://www.readbyqxmd.com/read/29200116/paraneoplastic-disorders
#6
Eric Lancaster
PURPOSE OF REVIEW: Paraneoplastic neurologic syndromes target specific areas of the nervous system with pathogenic autoantibodies or T-cell responses. Each syndrome conveys a risk of particular tumors. Expanded paraneoplastic antibody testing has led to improved diagnosis but created challenges involving appropriate interpretation of test results. RECENT FINDINGS: Peripheral nervous system paraneoplastic disorders such as myasthenia gravis and Lambert-Eaton myasthenic syndrome involve pathogenic autoantibodies...
December 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29195055/neuromuscular-junction-formation-aging-and-disorders
#7
Lei Li, Wen-Cheng Xiong, Lin Mei
Synapses, the fundamental unit in neuronal circuits, are critical for learning and memory, perception, thinking, and reaction. The neuromuscular junction (NMJ) is a synapse formed between motoneurons and skeletal muscle fibers that is wrapped by Schwann cells (SCs). It is essential for controlling muscle contraction. NMJ formation requires intimate interactions among motoneurons, muscles, and SCs. Deficits in NMJ formation and maintenance cause neuromuscular disorders, including congenital myasthenic syndrome and myasthenia gravis...
December 1, 2017: Annual Review of Physiology
https://www.readbyqxmd.com/read/29191521/the-possibility-of-obtaining-marketing-authorization-of-orphan-pharmaceutical-compounding-preparations-3-4-dap-for-lambert-eaton-myasthenic-syndrome
#8
Sofieke de Wilde, Maria G H de Jong, Alexander F Lipka, Henk-Jan Guchelaar, Kirsten J M Schimmel
BACKGROUND: Pharmaceutical compounding preparations, produced by (hospital) pharmacies, usually do not have marketing authorization. As a consequence, some of these pharmaceutical compounding preparations can be picked-up by a pharmaceutical company to obtain marketing authorization, often leading to price increases. An example is the 3,4-diaminopyridine slow release (3,4-DAP SR) tablets for Lambert-Eaton Myasthenic Syndrome (LEMS). In 2009 marketing authorization was given for the commercial immediate release phosphate salt of the drug, including a fifty-fold price increase compared to the pharmaceutical compounding preparation...
November 27, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29189923/congenital-myasthenic-syndrome-with-episodic-apnoea-clinical-neurophysiological-and-genetic-features-in-the-long-term-follow-up-of-19-patients
#9
Grace McMacken, Roger G Whittaker, Teresinha Evangelista, Angela Abicht, Marina Dusl, Hanns Lochmüller
BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of apparent life-threatening events in infancy. The underlying mechanisms for sudden and recurrent episodes of respiratory arrest in these patients are unclear. Whilst CMS-EA is most commonly caused by mutations in CHAT, the list of associated genotypes is expanding. METHODS: We reviewed clinical information from 19 patients with CMS-EA, including patients with mutations in CHAT, SLC5A7 and RAPSN, and patients lacking a genetic diagnosis...
November 30, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29189554/paraneoplastic-lambert-eaton-myasthenic-syndrome-with-limbic-encephalitis-clinical-correlation-with-the-coexistence-of-anti-vgcc-and-anti-gabab-receptor-antibodies
#10
Jonathan J Cho, James P Wymer
OBJECTIVE: To characterize Lambert-Eaton myasthenic syndrome and limbic encephalitis with coexistent voltage-gated calcium channel (VGCC) antibody and γ-aminobutyric acid (GABA) B receptor antibody. METHODS: Case study. RESULTS: A 57-year-old man presented with 6 months of weakness, unsteadiness, and vision difficulties. Examination revealed proximal weakness and diminished reflexes. Electrodiagnostic study revealed low-amplitude motor potentials and facilitation on high-frequency stimulation...
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189551/distinguishing-features-of-the-repetitive-nerve-stimulation-test-between-lambert-eaton-myasthenic-syndrome-and-myasthenia-gravis-50-year-reappraisal
#11
Shin J Oh
OBJECTIVE: To reappraise the distinguishing features of the repetitive nerve stimulation (RNS) tests in the abductor digiti quinti muscle between myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) 50 years after the 1965's Lambert seminal paper. METHODS: The various parameters of the RNS test were compared between 34 patients with LEMS and 140 patients with MG to assess their diagnostic sensitivity. RESULTS: RNS test was abnormal in all (100%) patients with LEMS and 76 (54%) patients with MG...
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29150079/mechanism-hypotheses-for-the-electrophysiological-manifestations-of-two-cases-of-endplate-acetylcholinesterase-deficiency-related-congenital-myasthenic-syndrome
#12
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
#13
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
#14
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
#15
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
#16
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/29093415/a-case-of-paraneoplastic-cerebellar-degeneration-and-lambert-eaton-myasthenic-syndrome-associated-with-neuroendocrine-carcinoma-of-the-oropharynx
#17
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/29090216/congenital-myasthenic-syndrome-in-a-mixed-breed-dog
#18
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/29054425/molecular-characterization-of-congenital-myasthenic-syndromes-in-spain
#19
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...
December 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29053879/decrement-with-high-frequency-repetitive-nerve-stimulation-in-a-rapsn-congenital-myasthenic-syndrome
#20
Samantha J LoRusso, Stanley J Iyadurai
No abstract text is available yet for this article.
October 20, 2017: Muscle & Nerve
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