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Relevant bibliographies by topics / Neuromuscular junction; Synapses; Myasthenic / Books

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Books on the topic 'Neuromuscular junction; Synapses; Myasthenic'

Author: Grafiati

Published: 4 June 2021

Last updated: 14 February 2022

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1

Kuwabara, Satoshi. Neuromuscular junction disorders. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199658602.003.0014.

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Ten seminal papers on disorders of the neuromuscular junction are described, covering historical aspects, recent advances in immunological, biological, and genetic researches, and future perspectives. Early descriptions of myasthenia gravis (MG) date back to the seventeenth century, and MG acquired its name in the nineteenth century. The first symptomatic treatment with cholinesterase inhibitors was reported in 1934, leading to the development of modern immunological therapies. Following the discovery of anti-MuSK (muscle-specific tyrosine kinase) antibody in 2001, MG is currently classified into three categories: AChR-positive, MuSK-positive, and dual-seronegative. Lambert-Eaton myasthenic syndrome was recognized in 1956, followed by the discovery of antibodies to voltage-gated calcium channels in the pre-synaptic membrane, facilitating diagnosis and improving the understanding of the pathophysiological mechanisms. Since the late twentieth century, many types of congenital myasthenic syndromes with pre-synaptic, synaptic, and post-synaptic defects have been identified, and a classification based on molecular genetics is in evolution.

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2

Nageshwaran, Sathiji, Heather C. Wilson, Anthony Dickenson, and David Ledingham. Disorders of muscle and neuromuscular junction. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199664368.003.0008.

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This chapter discusses the clinical features and evidence base for the pharmacological treatment of muscular disorders (inflammatory myopathies: polymyositis, dermatomyositis, and inclusion body myositis), mitochondrial myopathies, Duchenne muscular dystrophy (DMD), myotonic dystrophy, inherited neuromuscular channelopathies, non-dystrophic myotonias (myotonia congenita, paramyotonia congenita), periodic paralyses, acquired neuromyotonia (Isaac syndrome and Morvan syndrome), stiff person syndrome, and disorders of the neuromuscular junction (myasthenia gravis (MG), myasthenic crisis, and Lambert–Eaton myasthenic syndrome (LEMS).

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3

Sanders, Donald B. Clinical aspects of neuromuscular junction disorders. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199688395.003.0023.

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Disorders that primarily impair neuromuscular transmission (NMT) produce weakness that characteristically affects certain muscle groups and varies with activity. Acquired, autoimmune myasthenia gravis (MG) is the most common of these disorders. Much less common are genetic abnormalities of the neuromuscular junction (NMJ), the Lambert–Eaton myasthenic syndrome (LEMS), and toxic effects of various biological and chemical agents. The diagnosis of MG or LEMS is suspected from the history and clinical findings, and is confirmed in most patients by the presence of specific auto-antibodies. The precise diagnosis of most genetic myasthenic syndromes may require sophisticated DNA analysis. Impaired NMT can be confirmed in all of these conditions by repetitive nerve stimulation (RNS) testing and measuring the neuromuscular jitter. Treatment of MG requires selecting among several therapeutic options, taking into consideration the clinical characteristics of the individual patient. Treatment of LEMS and genetic myasthenic syndromes is more limited.

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4

Majumdar, Debolina Guha. Functional analysis of Drosophila Myosin VI in larval neuromuscular junction synapses. 2007.

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5

Murray, E. Lee, and Veda V. Vedanarayanan. Neuromuscular Disorders. Edited by Karl E. Misulis and E. Lee Murray. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190259419.003.0021.

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The hospital neurologist may encounter neuromuscular disorders as known chronic conditions that are exacerbated by a hospital stay, be the principal reason for admission, or develop during a prolonged hospitalization. This chapter details the presentation, diagnosis, and management of conditions affecting the peripheral nerves and neuromuscular junction, such as myasthenia gravis, Lambert-Eaton (myasthenic) syndrome, botulism, and tick paralysis; as well as muscular weakness from various causes such as rhabdomyolysis, critical illness neuromyopathy, inflammatory myopathies, muscular dystrophies, periodic paralysis, and metabolic and endocrine myopathies. Also discussed are motoneuron degeneration, including amyotrophic lateral sclerosis and progressive muscle atrophy, and neuromuscular respiratory failure.

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6

Katirji, Bashar. Electrodiagnostic Findings in Neuromuscular Disorders. Edited by Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0004.

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Neuromuscular disorders are often classified into four major categories: anterior horn cell disorders, peripheral neuropathies, neuromuscular junction disorders and myopathies. This chapter discusses the electrodiagnostic and clinical EMG findings in these various neuromuscular disorders. Peripheral neuropathies are subdivided into focal mononeuropathies, radiculopathies, plexopathies and generalized peripheral polyneuropathies. Focal peripheral nerve lesions and generalized peripheral polyneuropathies may be axonal or demyelinating, and manifest quite distinctly on nerve conduction studies. Neuromuscular junction disorders may be presynaptic, as seen with the Lambert-Eaton myasthenic syndrome, or postsynaptic, as seen with myasthenia gravis.

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7

Katirji, Bashar. Case 21. Edited by Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0025.

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Lambert-Eaton myasthenic syndrome is a rare yet very important neuromuscular disorder that may be difficult to confirm if not considered in the differential diagnosis. It is often misdiagnosed as myasthenic gravis or other nonspecific neuromuscular disorder. The electrodiagnostic findings in Lambert-Eaton myasthenic syndrome continue to be the cornerstone of the diagnosis. This case outlines the clinical and electrodiagnostic features of a patient with this syndrome and highlights the findings on repetitive nerve stimulation. It also discusses the practical approach in the search for occult malignancy. The distinguishing features among the various neuromuscular junction disorders are emphasized.

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8

Hopkins, Philip M. Neuromuscular physiology in anaesthetic practice. Edited by Jonathan G. Hardman. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199642045.003.0007.

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The pharmacological interventions that constitute general anaesthesia are targeted at producing unconsciousness and an immobile patient even in response to noxious stimuli. Surgical anaesthesia also requires skeletal muscle relaxation, the degree of which depends on the site and nature of the surgical procedure. The anaesthetist therefore needs an advanced level of knowledge and understanding of the function of nerves, synapses, and muscle in order to understand, from first principles, how the drugs they use every day mediate their effects. Nerves and muscle cells are termed excitable cells because the electrical potential across their cell membranes (membrane potential) can be rapidly and profoundly altered because of the presence of specialized ion channels. Some drugs, such as local anaesthetics, act on ion channels involved in nerve conduction while many others act on synaptic transmission, the neurochemical communication between neurons or between a neuron and its effector organ. The neuromuscular junction is a synapse of specific interest to anaesthetists because it is the site of action of neuromuscular blocking drugs. This chapter covers the fundamentals of cellular electrophysiology, structure and function of key ion channels, and the physiology of nerves, synapses, and skeletal muscle.

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9

(Editor), Mark A. Agius, David P. Richman (Editor), Robert H. Fairclough (Editor), and Ricardo A. Maselli (Editor), eds. Myasthenia Gravis and Related Disorders: Biochemical Basis for Disease of the Neuromuscular Junction (Annals of the New York Academy of Sciences, V. 998). New York Academy of Sciences, 2003.

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10

Katirji, Bashar. Case 17. Edited by Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0021.

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Myasthenia gravis is a relatively common neuromuscular junction disorder. The diagnosis of myasthenia gravis may be challenging particularly in seronegative patients. This case starts by discussing the diagnostic modalities available to confirm the diagnosis of myasthenia gravis including serum antibodies, the Tensilon test, and the ice pack test. After a detailed discussion of the physiology of neuromuscular transmission, the case emphasizes the role of electrodiagnostic studies in the diagnosis of myasthenic gravis. This includes detailed findings on repetitive nerve stimulation recording distal and proximal muscles as well as single-fiber electromyography jitter studies. Finally, the diagnostic sensitivity of the available tests in myasthenia gravis is compared and a suggested electrodiagnostic strategy for patients with suspected myasthenic gravis is outlined.

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11

Katirji, Bashar. Case 24. Edited by Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0028.

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Botulism is an extremely rare neuromuscular disorder, caused by botulinum toxin which is produced by the anaerobic bacteria Clostridium botulinum. It has several forms: classic foodborne, infantile, wound, intestinal, and iatrogenic forms. The presentation is often acute and severe but may be occasionally subacute and moderate. The diagnosis may be difficult and requires a high index of suspicion. This case presents an adult with classic foodborne botulism and highlights the clinical and electrodiagnostic findings that distinguish this disorder from other neuromuscular junction disorders including myasthenia gravis and Lambert-Eaton myasthenic syndrome. Specifically, the findings on repetitive nerve stimulation are discussed and distinguished from the results seen in other neuromuscular junction disorders.

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12

A, Wernig, ed. Plasticity of motoneuronal connections. Amsterdam: Elsevier, 1991.

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13

Katirji, Bashar. Specialized Electrodiagnostic Studies. Edited by Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0003.

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In addition to nerve conduction nerve studies and needle EMG, the clinical EMG study include more specialized examinations Some of the tests, such as the F waves and H reflexes are now often used as part of the routine nerve conduction studies. Others are utilized for specific indications: Repetitive nerve stimulation and single fiber EMG are used predominantly in patients with suspected neuromuscular junction disorders such as myasthenia gravis, Lambert-Eaton myasthenic syndrome or botulism; the blink reflexes are used in patients with disorders of the facial and trigeminal nerves as well as brainstem conditions. This chapter covers the late responses, including the F waves, H reflexes and blink reflexes and their applications in the diagnosis of peripheral nerve disorders. This is a followed by a discussion of the basic concepts of slow and rapid repetitive nerve stimulation and single fiber EMG, as well as their applications in the diagnosis of neuromuscular junction disorders.

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14

Cohen, Jeffrey A., Justin J. Mowchun, Victoria H. Lawson, and Nathaniel M. Robbins. A 46-Year-Old Man with Double Vision and Proximal Leg Weakness. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190491901.003.0033.

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Lambert-Eaton myasthenic syndrome (LEMS) can be a difficult condition to diagnose. In this chapter, the clinical picture and characteristics are discussed. The pathophysiology is also reviewed. Features to distinguish LEMS from more common neuromuscular junction conditions such as myasthenia gravis are reviewed. We review features that distinguish between idiopathic and paraneoplastic forms, and we discuss the importance of tumor surveillance. Antibody testing and the correct electrodiagnostic strategy are presented. Treatment of LEMS is outlined.Lambert-Eaton syndrome (LES) is a difficult condition to diagnose. The unique clinical picture and its characteristics are discussed. This is especially true in the patient without a diagnois of cancer. Antibody testing and the correct electrodiagnostic strategy are presented. Treatment of LES is outlined.

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15

Reddy, Ugan, and Nicholas Hirsch. Diagnosis, assessment, and management of myasthenia gravis and paramyasthenic syndromes. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199600830.003.0244.

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Diseases that affect the neuromuscular junction (NMJ) interfere with normal nerve transmission and cause weakness of voluntary muscles. The two most commonly encountered are acquired myasthenia gravis (MG) and the Lambert–Eaton myasthenic syndrome (LEMS). Acquired MG is an autoimmune disease in which antibodies are directed towards receptors at the NMJ. In 85% of patients, IgG antibodies against the postsynaptic acetylcholine receptor (AChR) are found (seropositive MG). The thymus gland appears to be involved in the production of these which cause an increase rate of degradation of AChR resulting in a decreased receptor density resulting in a reduced postsynaptic end-plate potential following motor nerve stimulation and leading to muscle weakness. Although all voluntary muscles can be affected, ocular, bulbar, respiratory, and proximal limb weakness predominates. In the majority of seronegative patients, an antibody directed towards a NMJ protein called muscle specific tyrosine kinase (MUSK) is found. Anti-MUSK MG is characterized by severe bulbar and respiratory muscle weakness. Diagnosis of MG requires a high degree of clinical suspicion coupled with pharmacological and electrophysiological testing, and detection of the various causative antibodies. Treatment of MG involves enhancing neuromuscular transmission with long-acting anticholinesterase agents and immunosuppression. Acute exacerbations are treated with either plasma exchange or intravenous immunoglobulin. Myasthenic crisis is associated with severe muscle weakness that necessitates tracheal intubation and mechanical ventilation. LEMS is an autoimmune disease in which IgG antibodies are directed towards the pre-synaptic voltage-gated calcium channels at the NMJ. It is often associated with malignant disease (usually small cell carcinoma of the lung). Autonomic dysfunction is prominent and patients show abnormal responses to neuromuscular blocking drugs.

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