Takotsubo Syndrome and myasthenia gravis: When neuromuscolar disease meets cardiac dysfunction
Myasthenia gravis (MG) is a neuromuscular autoimmune disease that affects the skeletal muscle through the production of autoantibodies against the nicotinic acetylcholine receptor at the neuromuscular junction, thus causing defective neuromuscular transmission in skeletal muscles [1]. MG occurs in 1: 7500 individuals, affecting women during the second to third decade and men in their fifth and sixth decade of life [2]. Typically, patients experience muscle weakness and fatigue, as well as fluctuating and fatigable extraocular (e.g. (Source: International Journal of Cardiology)
Source: International Journal of Cardiology - October 9, 2019 Category: Cardiology Authors: Francesco Pelliccia, Carlo Gaudio Source Type: research

Preliminary Findings of a Dedicated Ocular Myasthenia Gravis Rating Scale: The OMGRate
. (Source: Neuro-Ophthalmology)
Source: Neuro-Ophthalmology - October 9, 2019 Category: Opthalmology Authors: Sui Hsien Wong Eric Eggenberger Wayne Cornblath Alba Xhepa Eduardo Miranda Helena Lee Ailbhe Burke Carolina Barnett Source Type: research

Burden and impact of takotsubo syndrome in myasthenic crisis: A national inpatient perspective on the under-recognized but potentially fatal association
Patients with myasthenia gravis (MG) remain at a higher risk of developing takotsubo syndrome (TS), particularly during a myasthenic crisis (MC) event. The prevalence of MC-associated TS and its impact on subsequent in-hospital outcomes have not been explored previously. (Source: International Journal of Cardiology)
Source: International Journal of Cardiology - October 8, 2019 Category: Cardiology Authors: Rupak Desai, Shabber A. Abbas, Hee Kong Fong, Muhammad Uzair Lodhi, Rajkumar Doshi, Sejal Savani, Kishorbhai Gangani, Rajesh Sachdeva, Gautam Kumar Source Type: research

Risk factors associated with myasthenia gravis in thymoma patients: The potential role of thymic germinal centers.
Abstract Thymomas are associated with a very high risk of developing Myasthenia Gravis (MG). Our objectives were to identify histological and biological parameters to allow early diagnosis of thymoma patients susceptible to developing MG. We conducted a detailed retrospective analysis from a patient database, searching for differences between patients with thymoma-associated MG (MGT, n = 409) and thymoma without MG (TOMA, n = 111) in comparison with nonthymomatous MG patients (MG, n = 1246). We also performed multiplex and single molecule arrays to measure the serum levels of cytokines in these groups ...
Source: Journal of Autoimmunity - October 5, 2019 Category: Allergy & Immunology Authors: Lefeuvre CM, Payet CA, Fayet OM, Maillard S, Truffault F, Bondet V, Duffy D, de Montpreville V, Ghigna MR, Fadel E, Mansuet-Lupo A, Alifano M, Validire P, Gossot D, Behin A, Eymard B, Berrih-Aknin S, Le Panse R Tags: J Autoimmun Source Type: research

Thymic small cell carcinoma associated with Lambert–Eaton myasthenic syndrome
We report an extremely rare case of LEMS associated with thymic small cell carcinoma. A 71-year-old man was referred to our institution for a mediastinal tumor and a 2-month history of ptosis, fatigue, and gait disorder. Based on the radiological findings, thymoma associated with LEMS was diagnosed, and extended thymectomy was performed. After surgery, the patient’s symptoms had not improved. Anticholinesterase treatment alleviated his symptoms. (Source: The Annals of Thoracic Surgery)
Source: The Annals of Thoracic Surgery - October 4, 2019 Category: Cardiovascular & Thoracic Surgery Source Type: research

Thymoma and pure red cell aplasia with hypoplasia of megakaryocytopoiesis: a rare and life-treating condition
Thymic tumors are rare diseases with an incidence of 0.15 cases per 100,000 person-years. They can be associated with a variety of other syndromes, such as Myasthenia Gravis or autoimmune disorders. Among them, pure red cell aplasia is a hemato-pathological condition characterized by anemia, reticulocytopenia and erythroid cell hypoplasia of bone marrow. Here, we reported a case of a 62-year-old female with a long history of neurologic symptoms due to Myasthenia Gravis. She was diagnosed with thymoma, with mediastinal mass and pleural thickening. (Source: Transfusion and Apheresis Science)
Source: Transfusion and Apheresis Science - October 4, 2019 Category: Hematology Authors: Giorgio Lo Iacono, Federica Gigli, Lorenzo Gherzi, Daniele Avenoso, Stefano Fiori, Giulia Sedda, Corrado Tarella, Lorenzo Spaggiari Source Type: research

Therapeutic Plasma Exchange in Neurological Disorders: Experience From A Tertiary Neuroscience Centre
Therapeutic plasma exchange (TPE) involves the extracorporeal separation of plasma from the cellular components of blood with replacement fluid, such as human albumin or fresh frozen plasma. A number of studies across the world revealed that more than one third of TPE procedures were performed for neurological disorders.Myasthenia gravis (MG), Guillain-Barr é syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP) were the most frequently cited indications for TPE, followed by multiple sclerosis (MS). (Source: Transfusion and Apheresis Science)
Source: Transfusion and Apheresis Science - October 4, 2019 Category: Hematology Authors: Joyutpal Das, Vanisha D. Chauhan, Daniel Mills, Nicholas J. Johal, Maevis Tan, Rachael Matthews, Ryan Keh, James B Lilleker, David Gosal, Nazar Sharaf Source Type: research

Diffuse large B cell lymphoma mimics myasthenia gravis
(Source: Neurological Sciences)
Source: Neurological Sciences - October 3, 2019 Category: Neurology Source Type: research

Thymic small cell carcinoma associated with Lambert-Eaton myasthenic syndrome.
We report an extremely rare case of LEMS associated with thymic small cell carcinoma. A 71-year-old man was referred to our institution for a mediastinal tumor and a 2-month history of ptosis, fatigue, and gait disorder. Based on the radiological findings, thymoma associated with LEMS was diagnosed, and extended thymectomy was performed. After surgery, the patient's symptoms had not improved. Anticholinesterase treatment alleviated his symptoms. PMID: 31586614 [PubMed - as supplied by publisher] (Source: The Annals of Thoracic Surgery)
Source: The Annals of Thoracic Surgery - October 3, 2019 Category: Cardiovascular & Thoracic Surgery Authors: Hashimoto S, Hayasaka K, Suzuki K, Endoh M, Yanagawa N, Shiono S Tags: Ann Thorac Surg Source Type: research

Neurological and related adverse events in immune checkpoint inhibitors: a pharmacovigilance study from the Japanese Adverse Drug Event Report database
ConclusionsOur results showed characteristic features of neurological and related AEs associated with each ICPI subtype, reported in a large number of Japanese patients. This would help in prompt identification and treatment of neurological AEs associated with ICPI treatment. (Source: Journal of Neuro-Oncology)
Source: Journal of Neuro-Oncology - October 1, 2019 Category: Cancer & Oncology Source Type: research

EP.128Measuring motor function response to treatment in DOK7 congenital myasthenic syndrome
We describe response to salbutamol therapy in fraternal twins who presented at age 5 and 7 years, respectively, with a limb-girdle pattern of weakness. DOK7 congenital myasthenic syndrome was diagnosed in late 2017 and salbutamol treatment (4mg TDS) commenced in the same year. Motor function was assessed using the North Star ambulatory assessment (NSAA) and timed function tests (TFTs), ambulatory capacity using 6 minute walked distance (6MWD) and typical mobility with the functional mobility scale (FMS). (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: R. Kennedy, M. Ryan, K. de Valle, K. Carroll Source Type: research

P.380
Synaptotagmins are integral membrane proteins of the synaptic vesicles that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve. Synaptotagmin II, encoded by SYT2, is the major isoform expressed at the neuromuscular junction. Syt2 deficient mice are known to develop a lethal impairment in synaptic transmission with a reduction in evoked release of neurotransmitters at the neuromuscular junction, manifesting with progressive motor degeneration. Recently dominant missense mutations in SYT2 have been reported as a rare cause of distal motor neuropathy and myasthenic syndrome, clinically ...
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: S. Donkervoort, P. Mohassel, L. Laugwitz, E. Kamsteeg, K. Chao, C. Verschuuren-Bemelmans, V. Horber, J. Fock, N. Voermans, Y. Hu, M. Snyder, S. Iannaccone, H. Lochm üller, T. Haack, A. Foley, R. Horvath, C. Bönnemann Source Type: research

P.378A complex movement disorder associated with myasthenic features: a novel phenotype caused by a homozygous NGLY1 mutation
The gene NGLY1 encodes for a cytosolic enzyme, N-glycanase 1, involved in degradation of N-glycosylated proteins. N-glycanase 1 deficiency was described by Need et al. in 2012 as the first congenital disorder of deglycosylation, and less than thirty cases have been reported since. Hallmark features include autosomal recessive inheritance and a multisystemic disorder. The neurological involvement starts in infancy with hypotonia, ataxia, hyperkinetic movement disorder, seizures and developmental delay/intellectual disability of various degree. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: D. Jacquier, J. Good, B. Laubscher, D. Mercati, E. Roulet-Perez, T. Kuntzer, B. Royer-Bertrand, L. Mittaz-Crettol, H. Fostad, A. Superti-Furga, A. Klein Source Type: research

P.377Myasthenia gravis (MG) anti-musk in Argentina: demographic, clinical findings and therapeutic response in a cohort of 56 patients
MuSK antibody positive Myasthenia Gravis (MuSK-MG) is diagnosed between 0-49% cases with generalized seronegative MG in different populations. Segmental muscular atrophy, frequent bulbar symptoms and a high incidence of myasthenic crisis characterize the disease. The aim of this study is to present a large cohort of MuSK-MG patients from Argentina. We performed a retrospective chart review on 56 muscle-specific kinase antibody (MuSK-Ab)-positive myasthenia gravis (MG) patients in nine neuromuscular centers in Argentina. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: M. Rugiero, M. Bettini, V. Alvarez, D. Genco, V. Salutto, C. Mazia, M. Figueredo, H. Gomez, E. Fulgenzi, L. Pirra, M. De Rosa, A. Dubrovsky, R. Reisin, J. Muntadas, M. Nogues Source Type: research

P.376Effect of low-dose rituximab treatment on T- and B-cell lymphocyte imbalance in refractory myasthenia gravis
We aimed to explore the effects of low-dose rituximab (RTX) on circulating T- and B-cell lymphocytes and the improvement of clinical symptoms in refractory myasthenia gravis (MG) patients. Fifteen patients with refractory MG were treated with a low dose of 600 mg RTX and were evaluated by serial-clinical scales, flow cytometry of peripheral blood T and B cells, and antibody titer before and after six months of RTX treatment. The quantitative MG score (QMGS), manual muscle testing (MMT), MG-related activities of daily living (MG-ADL) and MG-specific quality-of-life (QOL) were significantly improved and the average steroid-d...
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: S. Jing, J. Lu, J. Song, S. Luo, L. Zhou, C. Quan, J. Xi, C. Zhao Source Type: research

P.375Does rhythmic auditory stimulation influence walking speed in the 6-minute walk test in patients with myasthenia gravis?
The 6-minute walk test (6MWT) is widely used in the clinic to measure treatment efficacy and disease progression in patients with neuromuscular diseases and is found valid and reliable to measure decrease in walking speed. 2) Rhythmic auditory stimulation has repeatedly been shown to improve gait parameters in individuals with neurologic impairment. The aim of this ongoing study is to investigate if rhythmic auditory stimulation can influence walking speed, during a 6MWT in patients with myasthenia gravis (MG). (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: L. Andersen, N. Witting, J. Vissing Source Type: research

Myasthenia gravis
We describe a non-consanguineous couple whose first 3 pregnancies were complicated by FARIS. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: D. Nguyen, S. Botez, C. Nguyen Source Type: research

P.252LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families
Plectin is a giant multifunctional cytolinker protein (500 kDa) expressed in several tissues with essential roles in striated and smooth muscles, epithelia and nerve. It is a component of hemidesmosomes, desmosomes and focal adhesion contacts where it interacts with actin and intermediate filaments. Pathogenic variants in the PLEC1 gene lead to a group of diseases including epidermolysis bullosa (simplex ogna with or without muscular dystrophy, myasthenic syndrome, or pyloric atresia) and isolated limb-girdle muscular dystrophy. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: R. Ben Yaou, T. Stojkovic, M. Cerino, F. Duval, R. Juntas-Morales, I. Nelson, M. Beuvin, E. Lacene, D. Sternberg, J. Nectoux, M. Martin-Negrier, M. Bartoli, M. Cossee, F. Leturcq, G. Sole, M. Krahn, N. Romero, B. Eymard, G. Bonne Source Type: research

O.33Subcutaneous immunoglobulin in myasthenia gravis: results of a North American open label study
To assess efficacy, safety and tolerability of subcutaneous immunoglobulin (SCIg) in the treatment in myasthenia gravis (MG) patients who are on IVIg as part of routine clinical care. IVIg has been demonstrated to improve the MG status as compared to placebo and in another study to be equally efficacious to plasma exchange. In routine care, SCIg might be preferred to administer over IVIg. This multi-center North American open label prospective investigator-initiated study had 2 components: IVIg Screening Phase (ISP; Weeks -10 to -1) followed by Experimental Treatment Phase (ETP; Weeks 0 to 12). (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: M. Pasnoor, V. Bril, T. Levine, J. Trivedi, N. Silvestri, M. Phadnis, D. Saperstein, S. Nations, H. Katzberg, G. Wolfe, L. Herbelin, K. Higgs, A. Heim, J. Statland, R. Barohn, M. Dimachkie Source Type: research

EP.30Usefulness of extraocular muscle imagery in the diagnosis of myasthenia gravis and chronic progressive external ophthalmoplegia
Myasthenia gravis (MG) and mitochondrial disorders may induce oculomotor troubles or ptosis. When these troubles are isolated, differential diagnosis between both diseases can be difficult. The aim of our study is to compare extraocular muscle (EOM) mass in patients affected by chronic progressive external ophtalmoplegia (CPEO) due to mitochondrial disorders and in patients presenting with MG. We retrospectively collected data from MG patients and CPEO referred to our French neuromuscular center. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: M. Lepetit, F. Toulgoat, S. Wiertlewski, Y. P éréon, A. Magot Source Type: research

P.15Myopathies featuring early or prominent dysphagia
Dysphagia occurs in a variety of neuromuscular disorders, including motor neuron diseases, myasthenia gravis (MG) and myopathies. Limited data exist regarding myopathies with early/ prominent dysphagia. We conducted a retrospective study over 16 years to identify myopathy patients, in whom dysphagia was the initial symptom or was disproportionately severe compared to limb weakness (evidence of aspiration on swallowing study or requirement of diet modification, procedural intervention or feeding tube while ambulatory).. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: J. Triplett, M. Pinto, M. Milone, T. Liewluck Source Type: research

I.3Glycosylation related myopathies
Protein glycosylation is one of the major processes in human biology with at least 1% of our genes directly involved in this process. The important role of glycosylation for neuromuscular function is illustrated by the increasing number of inherited neuromuscular diseases that is being associated with metabolic disturbances in glycosylation pathways. Well known examples include the Muscular Dystrophy Dystroglycanopathy syndromes (Dystroglycanopathies) due to defective O-mannosylation of the sarcolemmal protein alpha-dystroglycan, GNE myopathy due to a defect in sialic acid biosynthesis, and congenital myasthenic syndromes ...
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: D. Lefeber Source Type: research

Pediatric Ocular Myasthenia Gravis
We present a review of current strategies in the treatment of pediatric ocular myasthenia gravis (OMG). A critical appraisal was performed of the current literature available on OMG and the treatment options available for all age populations. From this data, we present the evidence surrounding therapeutic options for pediatric OMG and discuss treatment outcomes in the pediatric population. We also present gaps in the literature with regard to pediatric OMG and possibilities for future research.Recent findingsWhile there is data on the use of steroid-sparing immunosuppressive agents for myasthenia gravis (MG), as a whole it...
Source: Current Treatment Options in Neurology - September 26, 2019 Category: Neurology Source Type: research

Diagnosis and treatment of myasthenia gravis
This article provides an update on the most recent advances in diagnostic procedures and therapeutic approaches for myasthenia gravis, spanning from autoantibody and neuroelectrophysiological tests as diagnostic tools, to innovative and promising treatments based on biological drugs. Recent findings Novel studies performed by cell-based assays (CBAs) indicate an improvement in the chance of identifying serum autoantibodies in myasthenic patients. Clinical trials on the use of biological drugs were recently concluded, providing important data on safety and efficacy of eculizumab, efgartigimod and amifampridine phosphate:...
Source: Current Opinion in Rheumatology - September 25, 2019 Category: Rheumatology Tags: MYOSITIS AND MYOPATHIES: Edited by Andrea Doria, Anna Ghirardello, and Mariele Gatto Source Type: research

Comparison of PLEX vs. IVIG Treatments on Short-Term In-Hospital Outcomes in Patients with Myasthenia Gravis
This study aims to compare PLEX vs. IVIG in patients with MG. (Source: Archives of Physical Medicine and Rehabilitation)
Source: Archives of Physical Medicine and Rehabilitation - September 25, 2019 Category: Rehabilitation Authors: Andrew Dang, Derek Schirmer, Russell Arellanes, Barth Wright Source Type: research

Impact of Smoking on In-Hospital Outcomes in Patients With Myasthenia Gravis Undergoing PLEX vs. IVIG
This study aims to compare PLEX vs. IVIG in smokers with MG. (Source: Archives of Physical Medicine and Rehabilitation)
Source: Archives of Physical Medicine and Rehabilitation - September 25, 2019 Category: Rehabilitation Authors: Andrew Dang, Derek Schirmer, Russell Arellanes, Barth Wright Source Type: research

Impact of SLE/RA on In-Hospital Outcomes in Patients with Myasthenia Gravis Undergoing PLEX vs. IVIG
This study aims to compare PLEX vs. IVIG in patients with MG who have SLE/RA. (Source: Archives of Physical Medicine and Rehabilitation)
Source: Archives of Physical Medicine and Rehabilitation - September 25, 2019 Category: Rehabilitation Authors: Andrew Dang, Derek Schirmer, Russell Arellanes, Barth Wright Source Type: research

Medication adherence in patients with myasthenia gravis in Brazil: a cross-sectional study
AbstractAdvances in the treatment of MG have allowed most patients to effectively treat their disorder with oral medications. In parallel, non-adherence to medication treatment regimens is a worldwide health problem. Other chronic neurological disorders have already been associated with low adherence to treatment. However, the literature regarding adherence among patients with MG is definitely poor. The purpose of this study was to capture the prevalence and the associated factors of non-adherence to pharmacological treatment in patients with MG. We carried out a cross-sectional cohort study with 58 consecutive patients wi...
Source: Acta Neurologica Belgica - September 25, 2019 Category: Neurology Source Type: research

Factors Affecting Generalization of Ocular Myasthenia Gravis in Patients with Positive Acetylcholine Receptor Antibody
To evaluate associated factors of conversion of ocular myasthenia gravis (OMG) to generalized myasthenia gravis (GMG) among patients with seropositive acetylcholine receptor antibody (AchR Ab). (Source: American Journal of Ophthalmology)
Source: American Journal of Ophthalmology - September 25, 2019 Category: Opthalmology Authors: Supanut Apinyawasisuk, Yuda Chongpison, Chawin Thitisaksakul, Supharat Jariyakosol Tags: Original Articles Source Type: research

[Exacerbation of ocular myasthenia gravis].
Abstract This case report describes an exacerbation of ocular myasthenia gravis after intravitreal injection using local anesthesia. A possible association with local therapeutic agents is critically discussed but cannot be excluded. PMID: 31555837 [PubMed - as supplied by publisher] (Source: Der Ophthalmologe)
Source: Der Ophthalmologe - September 25, 2019 Category: Opthalmology Authors: Sermeus L, Rickmann A, Schlosser R, Szurman P, Januschowski K Tags: Ophthalmologe Source Type: research

A mechanism in Agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome
Neuromuscular junction is a synapse between motoneurons and skeletal muscles, where acetylcholine receptors (AChRs) are concentrated to control muscle contraction. Studies of this synapse have contributed to our understanding of synapse assembly and pathological mechanisms of neuromuscular disorders. Nevertheless, underlying mechanisms of NMJ formation was not well understood. To this end, we took a novel approach - studying mutant genes implicated in congenital myasthenic syndrome (CMS). We showed that knock-in mice carrying N88K, a prevalent CMS mutation of Rapsyn (Rapsn), died soon after birth with profound NMJ deficits...
Source: eLife - September 24, 2019 Category: Biomedical Science Tags: Neuroscience Source Type: research

Amifampridine for the treatment of Lambert-Eaton myasthenic syndrome.
Authors: Oh SJ Abstract Introduction: The present status of amifampridine (AFP) for the treatment of Lambert-Eaton myasthenic syndrome (LEMS) is reviewed. Areas covered: All relevant literature identified through a PubMed search under treatment of LEMS, aminopyridine, and amifampridine are reviewed. An expert opinion on AFP was formulated. Expert opinion: AFPs, 3,4-DAP and 3,4-DAPP, are the most studied drugs in neuromuscular diseases. Randomized and non-randomized studies showed the most effective drug as symptomatic medication for LEMS. AFPs are safe and tolerable. Thus, AFPs should be the drug of choice for the ...
Source: Expert Review of Clinical Immunology - September 21, 2019 Category: Allergy & Immunology Tags: Expert Rev Clin Immunol Source Type: research

[Myasthenia gravis].
This article reviews the basic and advanced treatment options of the different disease subtypes including plasma exchange and immunoglobulins for treatment in a myasthenic crisis. Recently, clinical approval of eculizumab, a complement inhibitor, enriched the pharmacological armamentarium for AChR antibody-positive MG patients not appropriately responding to immunosuppression alone. PMID: 31538208 [PubMed - as supplied by publisher] (Source: Der Nervenarzt)
Source: Der Nervenarzt - September 19, 2019 Category: Neurology Authors: Müllges W, Stoll G Tags: Nervenarzt Source Type: research

[Seronegative myasthenic syndrome?]
ilich P PMID: 31535177 [PubMed - as supplied by publisher] (Source: Der Nervenarzt)
Source: Der Nervenarzt - September 18, 2019 Category: Neurology Authors: Selge C, Kümpfel T, Havla J, Schöberl F, Danek A, Reilich P Tags: Nervenarzt Source Type: research

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
European Journal of Human Genetics, Published online: 16 September 2019; doi:10.1038/s41431-019-0506-2Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 16, 2019 Category: Genetics & Stem Cells Authors: Sunitha Balaraju Ana T öpf Grace McMacken Veeramani Preethish Kumar Astrid Pechmann Helen Roper Seena Vengalil Kiran Polavarapu Saraswati Nashi Niranjan Prakash Mahajan Ines A. Barbosa Charu Deshpande Robert W. Taylor Judith Cossins David Beeson Steven L Source Type: research

De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure
Non-dystrophic myotonias are a rare group of neuromuscular disorders caused by variants in skeletal muscle sodium (SCN4A) or chloride (CLCN1) channels genes. Variants in SCN4A are associated with different phenotypes such as paramyotonia congenita, hyper- or hypokalemic periodic paralysis, sodium channel myotonia but also with congenital myasthenic syndromes and congenital myopathies [1, 2]. Clinical symptoms are mainly characterized by episodes with muscle stiffness or paralysis triggered by exercise, cold, infections or fasting [2, 3]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 13, 2019 Category: Neurology Authors: Astrid Pechmann, Matthias Eckenweiler, David Schorling, Dimitra Stavropoulou, Hanns Lochm üller, Janbernd Kirschner Tags: Case report Source Type: research

The Mary Walker effect: Mary Broadfoot Walker.
Authors: McCarter SJ, Burkholder DB, Klaas JP, Martinez-Thompson JM, Boes CJ Abstract Mary Broadfoot Walker (1888-1974) was the first to demonstrate the 'Mary Walker effect' describing the weakness of other muscle groups following release of the arteriovenous occlusion of an unrelated exercising muscle group in patients with myasthenia gravis, which led to the search for a circulating causative agent for myasthenia gravis. She was the first to clearly demonstrate that strength temporarily improved in patients with myasthenia gravis with physostigmine or Prostigmin (neostigmine). This dramatic treatment response has...
Source: Journal of the Royal College of Physicians of Edinburgh - September 11, 2019 Category: General Medicine Tags: J R Coll Physicians Edinb Source Type: research

Myasthenia Gravis With Reversible Pyramidal Tract Damage and Pseudo Internuclear Ophthalmoplegia. A Case Report and Literature Review
Myasthenia gravis (MG) is a rare and treatable antibody-mediated autoimmune disease. Pseudo internuclear ophthalmoplegia (-INO) or pyramidal tract damage is rarely observed in MG, and there were no known cases of MG with both pseudo-INO and pyramidal tract damage. Here, we report a case of a 61-year-old female suffering from MG accompanied by pseudo-INO and pyramidal tract damage with a rapid progressive course. Her blood and cerebrospinal fluid (CSF) tests were normal, except for the presence of the anti-acetylcholine receptor antibody. CT and contrast enhancement of the chest showed a thymic involution. MRI and contrast ...
Source: Frontiers in Neurology - September 10, 2019 Category: Neurology Source Type: research

Risk factors for the exacerbation of myasthenic symptoms after surgical therapy for myasthenia gravis and thymoma
Extended thymectomy is employed for patients with myasthenia gravis (MG) and/or thymoma with elevated serum antiacetylcholine receptor antibody (AchR) titers. However, MG symptoms occasionally worsen in postthymectomy patients. We explored the risk factors for exacerbation of MG symptoms after surgical therapy for patients with MG and/or thymoma with an elevated AchR titer. We retrospectively analyzed 90 patients suffering from MG and/or thymoma with an elevated AchR titer who underwent thymectomy in our institute. (Source: Seminars in Thoracic and Cardiovascular Surgery)
Source: Seminars in Thoracic and Cardiovascular Surgery - September 10, 2019 Category: Cardiovascular & Thoracic Surgery Authors: Taketo Kato, Koji Kawaguchi, Takayuki Fukui, Shota Nakamura, Shuhei Hakiri, Masahiro Nakatochi, Kohei Yokoi Tags: THORACIC – Original Submission Source Type: research

Tumor location may affect the clinicopathological features and prognosis of thymomas
This study aimed to evaluate the impact of tumor location on the clinicopathological features and prognosis of thymomas.MethodsWe performed a retrospective review of patients at our institution who underwent an extended thymectomy for a thymoma from 1976 to 2015. The tumor location was classified as either the superior or inferior mediastinum based on the maximum tumor diameter. The clinicopathological characteristics of the thymoma were also evaluated. Kaplan ‐Meier estimates and Cox proportional hazards models were used to analyze the survival outcomes and risk factors for recurrence.ResultsA total of 194 patients with...
Source: Thoracic Cancer - September 9, 2019 Category: Cancer & Oncology Authors: Dong Tian, Haruhiko Shiiya, Masaaki Sato, Chang ‐Bo Sun, Masaki Anraku, Jun Nakajima Tags: ORIGINAL ARTICLE Source Type: research

Myasthenia Gravis Induced by Immune Checkpoint Inhibitors
We report a case of our experience and review the current literature of MG exacerbated or occurring during immunotherapy to describe characteristics of this AE, warn the oncologist about this toxicity, and summarize the treatments conducted. Thirty-four cases of MG were reported, mostly with anti-programmed cell death protein 1 checkpoint inhibitor, and with melanoma. Onset was quick after the first or second infusion. Treatment comprised corticosteroids, prostigmine, and more or less plasmapheresis or immunoglobulins. Prognosis is poor, as 13 patients died after MG. MG is a rare immune-related AE that must be rapidly evok...
Source: Journal of Immunotherapy - September 7, 2019 Category: Allergy & Immunology Tags: Clincal Studies Source Type: research

Systematic Review of Safety and Efficacy of Rituximab in Treating Immune-Mediated Disorders
Conclusions: Rituximab is both safe and effective for the treatment of acquired angioedema with C1-inhibitor deficiency, ANCA-associated vasculitis, autoimmune hemolytic anemia, Behçet’s disease, bullous pemphigoid, Castleman’s disease, cryoglobulinemia, Goodpasture’s disease, IgG4-related disease, immune thrombocytopenia, juvenile idiopathic arthritis, membraneous nephropathy, relapsing-remitting multiple sclerosis, myasthenia gravis, nephrotic syndrome, neuromyelitis optica, pemphigus, rheumatoid arthritis, spondyloarthropathy, and systemic sclerosis. Conversely, rituximab failed to show an effec...
Source: Frontiers in Immunology - September 6, 2019 Category: Allergy & Immunology Source Type: research

A novel case of inclusion body myositis and myasthenia gravis
Myasthenia gravis (MG) is an autoimmune disorder caused by antibodies targeting the neuromuscular junction, which in most cases are directed towards the skeletal muscle acetylcholine receptor (AChR) [1]. The pathophysiology of MG is accepted to be immune mediated [2]. Sporadic inclusion body myositis (IBM) is considered the most common inflammatory myopathy in patients over 50 years old, but its pathophysiology remains to this day an enigma: It is still unclear whether it is a primary degenerative disease with secondary dysimmune reaction or vice versa [3]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 6, 2019 Category: Neurology Authors: Sakis Lambrianides, Evgenios Kinnis, Michele Cleanthous, Revekka Papacharalambous, Elena Panayiotou, Eleni Zamba-Papanicolaou, Theodoros Kyriakides Tags: Case report Source Type: research

Efficacy and tolerability of subcutaneously administered immunoglobulin in myasthenia gravis: A systematic review
The objective of this study is to determine the efficacy and safety of SCIg in the treatment of adult patients with myasthenia gravis. Relevant records were identified from August 2018 to January 2019 systematic search. Five relevant articles with a total of 34 patients with MG were included in this review. Data on functional disability score and adverse events were obtained. Based on the included uncontrolled studies, the functional disability scores of adult MG patients after SCIg administration showed consistent improvement. Headache and local site injection reactions were the most common adverse events reported. The ev...
Source: Journal of Clinical Neuroscience - September 5, 2019 Category: Neuroscience Source Type: research

The spectrum of underlying causes of iatrogenic Kaposi & #39;s sarcoma in a large series: A retrospective study
Conclusions: Our study revealed one of the highest rates for iatrogenic KS (27%) reported in the literature. Besides well-known causes, relatively frequent association with MG was remarkable. Usage of different forms of TCs was the cause of KS in a few cases. (Source: Indian Journal of Dermatology)
Source: Indian Journal of Dermatology - September 5, 2019 Category: Dermatology Authors: Can Baykal Tugba Atci Nesimi Buyukbabani Armagan Kutlay Source Type: research

Respiratory muscle training in children and adults with neuromuscular disease.
CONCLUSIONS: RMT may improve lung capacity and respiratory muscle strength in some NMDs. In ALS there may not be any clinically meaningful effect of RMT on physical functioning or quality of life and it is uncertain whether it causes adverse effects. Due to clinical heterogeneity between the trials and the small number of participants included in the analysis, together with the risk of bias, these results must be interpreted very cautiously. PMID: 31487757 [PubMed - as supplied by publisher] (Source: Cochrane Database of Systematic Reviews)
Source: Cochrane Database of Systematic Reviews - September 5, 2019 Category: General Medicine Authors: Silva IS, Pedrosa R, Azevedo IG, Forbes AM, Fregonezi GA, Dourado Junior ME, Lima SR, Ferreira GM Tags: Cochrane Database Syst Rev Source Type: research

Role of complement and potential of complement inhibitors in myasthenia gravis and neuromyelitis optica spectrum disorders: a brief review
AbstractThe complement system is a powerful member of the innate immune system. It is highly adept at protecting against pathogens, but exists in a delicate balance between its protective functions and overactivity, which can result in autoimmune disease. A cascade of complement proteins that requires sequential activation, and numerous complement regulators, exists to regulate a proportionate response to pathogens. In spite of these mechanisms there is significant evidence for involvement of the complement system in driving the pathogenesis of variety of diseases including neuromyelitis optica spectrum disorders (NMOSD) a...
Source: Journal of Neurology - September 3, 2019 Category: Neurology Source Type: research

Mucosa-associated lymphoid tissue lymphoma of the accessory parotid gland presenting as a simple cheek mass: A case report
Rationale: Mucosa-associated lymphoid tissue (MALT) lymphoma, also known as extranodal marginal zone B-cell lymphoma, usually occurs in the gastric mucosa, lung, lacrimal glands, and salivary glands. MALT lymphoma arising from the accessory parotid gland is extremely rare and can therefore be easily confused with other types of soft tissue masses. Patient concerns: A 56-year-old woman presented with a 1-month history of a mass on the left cheek. The mass was hard and nontender. She had a history of thymectomy 26 years ago due to myasthenia gravis. Diagnosis: A soft tissue tumor measuring 2.5 × 0.8 cm wa...
Source: Medicine - September 1, 2019 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

[Myasthenia gravis: perioperative complications of 1002 transsternal thymectomies - historical overwiev of 34 years long practice at one institution].
Conclusions: In a historical overview, the ratio of serious respiratory and airway complications and the mortality after transsternal thymectomies has considerably decreased, but the postoperative respiratory failure and the surgical risk of transsecting the sternum still pose a real risk. PMID: 31544487 [PubMed - in process] (Source: Magyar Sebeszet)
Source: Magyar Sebeszet - September 1, 2019 Category: Surgery Authors: Kas J, Kocsis Á, Kiss D, Simon V, Komoly S, Rózsa C, Svastics E Tags: Magy Seb Source Type: research

Magnesium sulfate reduces the rocuronium dose needed for satisfactory double lumen tube placement conditions in patients with myasthenia gravis
Using a minimum dose of neuromuscular blockade (NMB) to achieve intubation condition is one of the goals in anaesthesia management of patients with myasthenia gravis (MG) for thoracoscopic (VATS) thymectomy. H... (Source: BMC Anesthesiology)
Source: BMC Anesthesiology - August 31, 2019 Category: Anesthesiology Authors: Shoujun Fei, Hengfu Xia, Xiaowei Chen, Dazhi Pang and Xuebing Xu Tags: Research article Source Type: research