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https://www.readbyqxmd.com/read/28214292/prescription-profile-of-pyridostigmine-use-in-a-population-of-patients-with-myasthenia-gravis
#1
Jorge Enrique Machado-Alba, Luis Felipe Calvo-Torres, Andrés Gaviria-Mendoza, César Augusto Mejía-Vélez
INTRODUCTION: We determined the pyridostigmine prescription pattern in a population of patients with myasthenia gravis. METHODS: A descriptive cross-sectional study was done using a prescription database of 3.5 million individuals from which patients diagnosed with myasthenia gravis (MG) and for whom pyridostigmine was prescribed. RESULTS: A total of 306 outpatients with MG were found, and 258 were receiving pyridostigmine, mean age, 53.0±18...
February 18, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28199191/trans-synaptic-homeostasis-at-the-myasthenic-neuromuscular-junction
#2
Jaap J Plomp
Properly sustained impulse transmission at the neuromuscular junction (NMJ) is crucial for successful muscle contraction. To guarantee this, NMJs not only possess a considerable safety factor in transmission but also have the ability to adjust the presynaptic acetylcholine release level to cope with any changes in the postsynaptic neurotransmitter sensitivity. This review will provide overview on the discovery and characterization of this synaptic homeostatic mechanism, especially in the condition of the neuromuscular disorder myasthenia gravis (MG) where the postsynaptic transmitter sensitivity at the NMJ becomes severely reduced due to autoimmune attack of acetylcholine receptors...
March 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28188302/vesicular-acetylcholine-transporter-defect-underlies-devastating-congenital-myasthenia-syndrome
#3
Adi Aran, Reeval Segel, Kota Kaneshige, Suleyman Gulsuner, Paul Renbaum, Scott Oliphant, Tomer Meirson, Ariella Weinberg-Shukron, Yair Hershkovitz, Sharon Zeligson, Ming K Lee, Abraham O Samson, Stanley M Parsons, Mary-Claire King, Ephrat Levy-Lahad, Tom Walsh
OBJECTIVE: To identify the genetic basis of a recessive congenital neurologic syndrome characterized by severe hypotonia, arthrogryposis, and respiratory failure. METHODS: Identification of the responsible gene by exome sequencing and assessment of the effect of the mutation on protein stability in transfected rat neuronal-like PC12(A123.7) cells. RESULTS: Two brothers from a nonconsanguineous Yemeni Jewish family manifested at birth with severe hypotonia and arthrogryposis...
February 10, 2017: Neurology
https://www.readbyqxmd.com/read/28178777/pediatric-lambert-eaton-myasthenic-syndrome
#4
Jorge A Avina Fierro, Daniel A Hernandez Avina
No abstract text is available yet for this article.
April 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28174404/-two-cases-of-invasive-thymoma-with-taste-disorder
#5
Tatsuya Katayama, Shinji Hirai
Two 50s female patients with the taste disorder of sweet taste loss and stage IV a type B2 invasive thymoma underwent surgery at our hospital. One patient with myasthenia gravis (MG) developed postoperative myasthenic crisis and recovered by the treatment with plasma apheresis and steroid pulse therapy. Her taste disorder fully recovered together with her MG symptom. The taste disorder of the other patient without MG had persisted for 3 years after the surgery. The taste disorder of sweet taste loss was reported as one of non-motor symptoms caused by MG-related autoimmune mechanisms associated with thymoma, improving with the therapy for MG...
February 2017: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/28168212/novel-synaptobrevin-1-mutation-causes-fatal-congenital-myasthenic-syndrome
#6
Xin-Ming Shen, Rosana H Scola, Paulo J Lorenzoni, Cláudia S K Kay, Lineu C Werneck, Joan Brengman, Duygu Selcen, Andrew G Engel
OBJECTIVE: To identify the molecular basis and elucidate the pathogenesis of a fatal congenital myasthenic syndrome. METHODS: We performed clinical electrophysiology studies, exome and Sanger sequencing, and analyzed functional consequences of the identified mutation. RESULTS: Clinical electrophysiology studies of the patient revealed several-fold potentiation of the evoked muscle action potential by high frequency nerve stimulation pointing to a presynaptic defect...
February 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28166107/challenges-in-the-anesthetic-management-for-a-robotic-thymectomy-in-a-patient-with-myasthenia-gravis-a-case-report
#7
Susan M Martinelli, Bilal D Lateef, Jason M Long, David Y Huang, Ameeta Karmarkar, Brian P Barrick
We describe the case of a patient with myasthenia gravis undergoing a robotic-assisted thymectomy complicated by postoperative myasthenic crisis, with a focus on the anesthetic considerations specific to this case. Because myasthenia gravis is an autoimmune disease affecting acetylcholine receptors, caution must be taken with the use of neuromuscular blockade and reversal. Utilizing a robotic-assisted surgical approach makes anesthetic management challenging given the dangers of patient movement while the robot is docked, lung isolation, extubation criteria, and postoperative disposition...
February 3, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28109638/myasthenia-triggered-by-immune-checkpoint-inhibitors-new-case-and-literature-review
#8
Natalia L Gonzalez, Araya Puwanant, Angela Lu, Stanley M Marks, Saša A Živković
Immune checkpoint molecules are potent regulators of immunologic homeostasis that prevent the development of autoimmunity while maintaining self-tolerance. Inhibitors of immune checkpoint molecules are used as immunotherapy in the treatment of melanoma and different types of refractory cancer, and can trigger various autoimmune complications including myositis and myasthenia gravis. We describe a case of generalized myasthenia gravis induced by pembrolizumab and review 11 other cases. Five patients also had elevated serum CK levels ranging from 1200 to 8729 IU/L, and biopsy showed myositis in one...
January 6, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28099277/benefits-of-comprehensive-rehabilitation-therapy-in-thymectomy-for-myasthenia-gravis-a-propensity-score-matching-analysis
#9
Vincenzo Ambrogi, Tommaso Claudio Mineo
OBJECTIVE: To demonstrate the effectiveness of a comprehensive program of rehabilitation therapy in patients undergoing thymectomy for myasthenia gravis (MG). DESIGN: From 2005 to 2010, 46 consecutive patients affected by MG underwent a rehabilitation program both before and after thymectomy. We matched each patient with a "control patient" who underwent thymectomy within the period 1999 to 2004 with no preoperative rehabilitation, who had the closest propensity score matching...
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28078065/clinical-features-of-neuromuscular-disorders-in-patients-with-n-type-voltage-gated-calcium-channel-antibodies
#10
Andreas Totzeck, Petra Mummel, Oliver Kastrup, Tim Hagenacker
Neuromuscular junction disorders affect the pre- or postsynaptic nerve to muscle transmission due to autoimmune antibodies. Members of the group like myasthenia gravis and Lambert-Eaton syndrome have pathophysiologically distinct characteristics. However, in practice, distinction may be difficult. We present a series of three patients with a myasthenic syndrome, dropped-head syndrome, bulbar and respiratory muscle weakness and positive testing for anti-N-type voltage-gated calcium channel antibodies. In two cases anti-acetylcholin receptor antibodies were elevated, anti-P/Q-type voltage-gated calcium channel antibodies were negative...
September 15, 2016: European Journal of Translational Myology
https://www.readbyqxmd.com/read/28072465/splicing-regulation-and-dysregulation-of-cholinergic-genes-expressed-at-the-neuromuscular-junction
#11
REVIEW
Kinji Ohno, Mohammad Alinoor Rahman, Mohammad Nazim, Farhana Nasrin, Yingni Lin, Jun-Ichi Takeda, Akio Masuda
We humans have evolved by acquiring diversity of alternative RNA metabolisms including alternative means of splicing and transcribing non-coding genes, and not by acquiring new coding genes. Tissue-specific and developmental stage-specific alternative RNA splicing is achieved by tightly regulated spatiotemporal regulation of expressions and activations of RNA-binding proteins that recognize their cognate splicing cis-elements on nascent RNA transcripts. Genes expressed at the neuromuscular junction (NMJ) are also alternatively spliced...
January 10, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28064139/neurological-adverse-events-associated-with-immune-checkpoint-inhibitors-review-of-the-literature
#12
REVIEW
S Cuzzubbo, F Javeri, M Tissier, A Roumi, C Barlog, J Doridam, C Lebbe, C Belin, R Ursu, A F Carpentier
Immune checkpoint inhibitors (ICIs) targeting CTLA4 and PD1 constitute a promising class of cancer treatment but are associated with several immune-related disorders. We here review the literature reporting neurological adverse events (nAEs) associated with ICIs. A systematic search of literature, up to February 2016, mentioning nAEs in patients treated with ICIs was conducted. Eligible studies included case reports and prospective trials. One case seen in our ward was also added. Within the 59 clinical trials (totalling 9208 patients) analysed, the overall incidence of nAEs was 3...
January 5, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28042994/assessing-neuromuscular-junction-stability-from-stimulated-emg-in-children
#13
Matthew C Pitt, John C Mchugh, Jacquie Deeb, Ralph A Smith
OBJECTIVE: We present our 9-year experience of stimulated EMG potential analysis using concentric electrodes (SPACE) to evaluate neuromuscular junction (NMJ) disorders in awake children. The technique uses high frequency filtration of stimulated motor unit potentials and applies peak detection software to estimate mean consecutive difference (MCD). METHODS: SPACE was carried out in orbicularis oculi of 878 children (377 girls; median age 47months) between 2007 and 2015, stimulating the facial nerve with a monopolar cathode...
February 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28024842/congenital-myasthenic-syndrome-in-israel-genetic-and-clinical-characterization
#14
Sharon Aharoni, Menachem Sadeh, Yehuda Shapira, Simon Edvardson, Muhannad Daana, Talia Dor-Wollman, Aviva Mimouni-Bloch, Ayelet Halevy, Rony Cohen, Liora Sagie, Zohar Argov, Malcolm Rabie, Ronen Spiegel, Ilana Chervinsky, Naama Orenstein, Andrew G Engel, Yoram Nevo
The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS. Additional specific tests were performed in patients of Iranian and/or Iraqi Jewish origin. All medical records were reviewed and clinical data, genetic mutations and outcomes were recorded. Forty-five patients with genetic mutations in known CMS genes from 35 families were identified...
February 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28009770/fatal-morvan-syndrome-associated-with-myasthenia-gravis
#15
Madhu Nagappa, Anita Mahadevan, Sanjib Sinha, Parayil S Bindu, Pavagada S Mathuranath, Cheminikara Bineesh, Rose D Bharath, Arun B Taly
INTRODUCTION: Morvan syndrome is a rare and complex autoimmune disorder affecting multiple sites of neuraxis. CASE REPORT: We present fulminant Morvan syndrome, developing on a background of chronic myasthenia gravis. A 54-year-old gentleman presented with fluctuating ophthalmoplegia and proximal muscles weakness of 7 years duration that remitted with pyridostigmine and prednisolone. He developed insomnia of 2 months duration, worsening of myasthenic symptoms and respiratory distress, dysautonomia, encephalopathy, and peripheral nerve hyperexcitability...
January 2017: Neurologist
https://www.readbyqxmd.com/read/27997683/lambert-eaton-myasthenic-syndrome-lems-epidemiology-and-therapeutic-response-in-the-national-veterans-affairs-va-population
#16
Daniel C Abenroth, A Gordon Smith, John E Greenlee, Sharon D Austin, Stacey L Clardy
INTRODUCTION: One nation-wide study (Netherlands) of LEMS has been published. We report LEMS epidemiology and therapeutic response in the United States Veterans Affairs (VA) population. METHODS: Medical records for all active patients (12.5 million) in the VA health system were queried for relevant ICD-9 codes for 10/1/1999 - 9/30/2013. Clinical, electrophysiologic, and serologic features were evaluated to confirm diagnosis; epidemiologic and treatment data were collected...
December 20, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27966543/limb-girdle-myasthenia-with-digenic-rapsn-and-a-novel-disease-gene-ak9-mutations
#17
Ching-Wan Lam, Ka-Sing Wong, Ho-Wan Leung, Chun-Yiu Law
Though dysfunction of neuromuscular junction (NMJ) is associated with congenital myasthenic syndrome (CMS), the proteins involved in neuromuscular transmission have not been completely identified. In this study, we aimed to identify a novel CMS gene in a consanguineous family with limb-girdle type CMS. Homozygosity mapping of the novel CMS gene was performed using high-density single-nucleotide polymorphism microarrays. The variants in CMS gene were identified by whole-exome sequencing (WES) and Sanger sequencing...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27941137/tubular-aggregates-and-cylindrical-spirals-have-distinct-immunohistochemical-signatures
#18
Stefen Brady, Estelle G Healy, Qiang Gang, Matt Parton, Ros Quinlivan, Saiju Jacob, Elizabeth Curtis, Safa Al-Sarraj, Caroline A Sewry, Michael G Hanna, Henry Houlden, David Beeson, Janice L Holton
Tubular aggregates and cylindrical spirals are 2 distinct ultrastructural abnormalities observed in muscle biopsies that have similar histochemical staining characteristics on light microscopy. Both are found in a wide range of disorders. Recently, a number of genetic mutations have been reported in conditions with tubular aggregates in skeletal muscle. It is widely accepted that tubular aggregates arise from the sarcoplasmic reticulum, but the origin of cylindrical spirals has been less clearly defined. We describe the histopathological features of myopathies with tubular aggregates, including a detailed immunohistochemical analysis of congenital myasthenic syndromes with tubular aggregates due to mutations in GFPT1 and DPAGT1, and myopathies with cylindrical spirals...
December 2016: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/27927941/a-population-based-epidemiologic-study-of-adult-neuromuscular-disease-in-the-republic-of-ireland
#19
Stela Lefter, Orla Hardiman, Aisling M Ryan
OBJECTIVE: To estimate the prevalence rates (PRs) of acquired and inherited neuromuscular diseases (NMD) in the adult Irish population, reflecting the burden of these conditions in a single country. METHODS: This population-based study was performed in the Republic of Ireland (RoI), with a PR estimated for December 2013. Multiple case ascertainment sources were utilized. Demographic and clinical information and relevant diagnostic results were registered. RESULTS: A total of 2,641 adults were identified, giving a PR of 62...
December 7, 2016: Neurology
https://www.readbyqxmd.com/read/27922503/myasthenia-gravis-and-lambert-eaton-myasthenic-syndrome
#20
Michael W Nicolle
PURPOSE OF REVIEW: This article discusses the pathogenesis, diagnosis, and management of autoimmune myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS). RECENT FINDINGS: Recognition of new antigenic targets and improved diagnostic methods promise to improve the diagnosis of MG, although the clinical phenotypes associated with newer antibodies have not yet been defined. Future therapies might specifically target the aberrant immune response. The apparent increase in the prevalence of MG is not fully explained...
December 2016: Continuum: Lifelong Learning in Neurology
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