Libri: "Myotonia"

1

Ueda, Hideho. Myotonic dystrophy and myotonic dystrophy protein kinase. Jena, Germany: Urban & Fischer, 2000.

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2

Shinichi, Ohno, e Kobayashi T. (Takayoshi), a cura di. Myotonic dystrophy and myotonic dystrophy protein kinase. Jena, Germany: Urban & Fischer, 2000.

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3

Harper, Peter S. Myotonic dystrophy. 2^a ed. New York: Oxford University Press, 2009.

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4

Harper, Peter S. Myotonic dystrophy: A lecture given by Professor Harper to the Mytotonic Dystrophy Support Group on 21.4.89. Nottingham: Myotonic Dystrophy Support Group, 1989.

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5

S, Harper Peter, a cura di. Myotonic dystrophy: Present management, future therapy. Oxford: Oxford University Press, 2004.

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6

Fanning, Lorna. Factors influencing chemically induced myotonia in rat muscles. Dublin: University College Dublin, 1995.

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7

Parker, James N., e Philip M. Parker. Myotonic dystrophy: A bibliography and dictionary for physicians, patients, and genome researchers [to Internet references]. San Diego, CA: ICON Health Publications, 2007.

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8

Takahashi, Masanori P., e Tsuyoshi Matsumura, a cura di. Myotonic Dystrophy. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5.

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9

Engvall, Monica. On oral health in children and adults with myotonic dystrophy. Gothenburg: Department of Pedodontics, Institute of Odontology at the Sahlgrenska Academy, University of Gothenburg, 2010.

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10

Pinheiro, Philip Mark. A study of RNA trinucleotide repeats involved in myotonic dystrophy. Portsmouth: University of Portsmouth, School of Biological Sciences, 1999.

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11

Chinner, Susan. Teacher intervention with a child with Phonological Dyspraxia and Myotonic Dystrophy. Birmingham: University of Birmingham, 1998.

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12

Tomorrow belongs to me. Glasgow: University of Glasgow, 2006.

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13

T, Timchenko Lubov, a cura di. Triple repeat diseases of the nervous system. New York: Kluwer Academic/Plenum Publishers, 2002.

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14

US GOVERNMENT. An Act to Amend the Public Health Service Act to Provide for Research with Respect to Various Forms of Muscular Dystrophy, Including Duchenne, Becker, Limb Girdle, Congenital, Facioscapulohumeral, Myotonic, Oculopharyngeal, Distal, and Emery-Dreifuss Muscular Dystrophies. [Washington, D.C: U.S. G.P.O., 2001.

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15

Timchenko, Lubov T. Triple repeat diseases of the nervous system. New York: Kluwer Academic/Plenum Publishers, 2002.

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16

Shaibani, Aziz. Myotonia. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0021.

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Abstract (sommario):

Myotonia is a slow relaxation phase of a muscle after normal contraction. Patients report myotonia as muscle stiffness and sometimes pain. They usually adapt to it well. Falls due to myotonia may lead to accidents. Checking for percussion and action myotonia should be part of neuromuscular examination. Electrically silent myotonia is a sign of Brody’s syndrome. Myotonia may be incidentally discovered during EMG. The most important task is to differentiate between myotonia and paramyotonia clinically and electromyographically. Most myotonic disorders are caused by mutations of sodium, and chloride channels. There has been a significant understanding of the underlying channelopathies recently. Severe myotonia respond well to Mexiletine.

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17

Shaibani, Aziz. Myotonia. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0021.

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Myotonia is a slow relaxation phase after normal contraction. Patients report dystonia as muscle stiffness and sometimes pain. They usually adapt to it well. Falls due to myotonia may lead to accidents. Examination for percussion myotonia should be part of neuromuscular examination. Percussion of the thenar muscles with the reflex hammer is the most productive method. Electrically silent myotonia is a sign of Brody myopathy. Myotonia may be incidentally discovered during electromyography (EMG). The most important task is to differentiate between myotonia from paramyotonia clinically and electrically. There has been a significant understanding of the underlying channelopathies lately. Severe myotonia respond well to mexiletine.

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18

Myotonic Dystrophy (Major Problems in Neurology, Vol 21). W.B. Saunders Company, 1989.

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19

Myotonic Dystrophy. 3^a ed. Bailliere Tindall, 2001.

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20

Nageshwaran, Sathiji, Heather C. Wilson, Anthony Dickenson e 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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21

Cohen, Jeffrey A., Justin J. Mowchun, Victoria H. Lawson e Nathaniel M. Robbins. A 52-Year-Old Female with Weakness and Droopy Eyelids. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190491901.003.0024.

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Myotonic dystrophy type 1 affects multiple organ systems and is associated with cardiac, endocrine, and ophthalmological disorders. Executive dysfunction can lead to missed appointments and an apathetic attitude, causing patients to underestimate symptoms. The findings of both clinical and electrical myotonia should suggest myotonia congenita, DM1, or DM2. Myotonic dystrophy demonstrates anticipation, where the disease has an earlier onset and more severe course with subsequent generations due to increasing trinucleotide repeats. Therefore, the diagnosis can be heralded in an adult by his/her affected child. Management of the disorder is supportive, addressing issues relating to loss of strength, cardiac conduction defects, endocrinopathies (regular monitoring with glycosylated hemoglobin and thyroid-stimulating hormone). Diagnosis and management of this disorder is discussed.

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22

Myotonic Dystrophy: The Facts (Oxford Medical Publications). 3^a ed. Oxford University Press, USA, 2002.

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23

Johnson, Andrea. Myotonic Dystrophy. A cura di Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi e Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0034.

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Myotonic dystrophy (DM) is a multisystemic autosomal dominant disorder. Individuals may present with symptoms at any age, but pediatric patients typically will present before 10 years of age. The clinical features of DM differ depending on the type of dystrophy and include skeletal muscle weakness, myotonia, sleep apnea, decreased gastrointestinal motility, insulin hypersecretion, cardiac conduction abnormalities, and occasionally cognitive impairment. Anesthetic management of the patient with DM should begin in the preoperative arena and should take into account the postoperative considerations and concerns for the patient with DM. This chapter will help the clinician develop an appropriate anesthetic plan and implement a safe and effective perioperative experience.

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24

Pitt, Matthew. Investigation of channelopathies. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198754596.003.0008.

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The chapter begins with a general description of the clinical findings in conditions where hyperexcitability occurs. These are divided into the dystrophic conditions, such as myotonia dystrophy, and the non-dystrophic conditions, which include myotonia congenita, paramyotonia congenita, and potassium-aggravated myotonia. Conditions where hypoexcitability occurs such as periodic paralysis are next discussed. The associated disorders of sodium, calcium, chloride, and potassium channels are described. Next, the protocols for the neurophysiological tests that are used in myotonia, and the short exercise test either at room temperature or after cooling are introduced. The different patterns seen in these tests are outlined and the algorithms allowing precise targeting of genetic testing explained. The inter-discharge interval calculation that can be used in delineating the causes of myotonia is discussed. Other conditions where prominent spontaneous activity occurs such as Schwartz–Jampel syndrome and Pompe’s disease are described. The chapter concludes with details of the long exercise test used in diagnosis of periodic paralysis.

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25

Publications, ICON Health. The Official Patient's Sourcebook on Myotonia Congenita: A Revised and Updated Directory for the Internet Age. Icon Health Publications, 2002.

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26

Shaibani, Aziz. Gait Disorders. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0001.

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Gait is a complicated process that is initiated and maintained by different mechanisms, neurological including neuromuscular, and non-neurological including musculoskeletal. Neuromuscular clinics receive referrals about patients who may have non-neuromuscular disorders such as Parkinsondisease, focal foot dystonia, and multiple sclerosis. It is important for a neuromuscular specialist to be aware of other gait disorders. Important neuromuscular disorders of gait include neuropathies (foot drop, sensory ataxia), myopathies, muscle stiffness and spasms, myotonia, and motor neuron disease. Functional gait disorder comprises a significant entity that may lead to extensive non-necessary investigations that can be saved if the specialist is aware of these symptoms.

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27

Shaibani, Aziz. Gait Disorders. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0001.

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Gait is a complicated process that is initiated and maintained by different mechanisms, both neurological (including neuromuscular) and nonneurological (including musculoskeletal). Neuromuscular clinics receive referrals about patients who may have nonneuromuscular disorders such as Parkinson disease, focal foot dystonia, and multiple sclerosis (MS). It is important for neuromuscular specialists to be aware of other gait disorders as well. Important neuromuscular disorders of gait include neuropathies (foot drop, sensory ataxia), myopathies, muscle stiffness and spasms, myotonia, and motor neuron disease. Functional gait disorder comprises a significant entity that may lead to extensive, unnecessary investigations that can be saved if the specialist is aware of the characteristic features of these symptoms.

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28

Kennett, Robin P., e Sidra Aurangzeb. Primary muscle diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199688395.003.0024.

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This chapter on primary muscle diseases explains how analysis of compound muscle action potential (CMAP) amplitude, abnormal spontaneous activity on needle electromyography (EMG), and motor unit action potentials (MUAP) characteristics may be used to give an indication of pathophysiological processes, and goes on to describe the combination and distribution of abnormalities that may be expected in the more commonly encountered myopathies. The conditions considered in detail are inflammatory myopathy (including myositis), critical illness myopathy, disorders with myotonia, inherited myopathy (including muscular dystrophy), and endocrine, metabolic and toxic disorders. Each of these has a characteristic combination of CMAP, spontaneous EMG, and MUAP findings, but the systematic approach to clinical neurophysiology as a way of understanding muscle pathophysiology can be used to investigate the myriad of rare myopathies that may be encountered in clinical practice.

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29

Turney, Ben, e John Reynard. Kidney stones. A cura di John Reynard. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0013.

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The composition of kidney stones is variable and the predisposing factors multifactorial. Consequently, a detailed evaluation of the patient’s lifestyle, diet, fluid intake, medical history, drug history, urinary tract anatomy, blood, and urine biochemistry and stone composition is required determine predisposing factors for stone formation in an individual patient. Combinatorial subtle variants in biochemistry may act synergistically to increase risk of stone formation/recurrence. Many medications may alter blood and/or urine biochemistry and predispose to stone formation. Corticosteroids increase absorption of calcium from the gut and cause hypercalciuria. Topirimate (for seizures or migraines), sulphasalazine (for rheumatoid arthritis), diuretics containing triamterene, acetazolamide (for myotonia), antacids containing trisilicate, calcium supplements, vitamin D supplements, vitamin C in high doses, indinavir (for HIV), and some herbal medicines (containing ephedrine) all increase stone risk.

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30

Aminoff, Michael J. Clinical Observations on the Nervous System. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190614966.003.0009.

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With his remarkable knowledge of anatomy and his analytical mind, Bell developed into an outstanding clinical neurologist even before the specialty had been invented. Thus it was that in his later years, when finally he returned to the University of Edinburgh as professor of surgery, referrals and requests for consultation were often for him to provide a neurological opinion rather than to perform surgical operations. His clinical observations regarding motor or sensory disturbances involving the face are of particular interest given his interests in the facial expression of emotions and the innervation of the face. Bell described or elaborated on several clinical disorders, although not always recognizing them as distinct entities—Bell’s palsy and spasms; the numb chin; motor neuron diseases; muscular dystrophy; myotonia; various movement disorders (torticollis and writer’s cramp); atlantoaxial dislocation; trigeminal neuralgia; and referred pain.

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31

(Editor), Peter S. Harper, Baziel G. M. van Engelen (Editor), Bruno Eymard (Editor) e Douglas E. Wilcox (Editor), a cura di. Myotonic Dystrophy: Present Management, Future Therapy. Oxford University Press, USA, 2004.

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32

Schoser, Benedikt, e Giovanni Meola, a cura di. Beyond Borders: Myotonic Dystrophies – A European Perception. Frontiers Media SA, 2019. http://dx.doi.org/10.3389/978-2-88945-709-0.

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33

Jenkins, Sandra. Myotonic Dystrophies: Epidemiology, Diagnosis and Therapeutic Challenges. Nova Science Publishers, Incorporated, 2015.

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34

Winblad, Stefan. Myotonic Dystrophy Type 1: Cognition, Personality and Emotion. Dept. of Psychology, Goteborg University, 2006.

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35

Cascio, Stefania. Coloring Book - You Will Get Better - Myotonic Dystrophy. Independently Published, 2021.

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36

Takahashi, Masanori P., e Tsuyoshi Matsumura. Myotonic Dystrophy: Disease Mechanism, Current Management and Therapeutic Development. Springer, 2018.

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37

Takahashi, Masanori P., e Tsuyoshi Matsumura. Myotonic Dystrophy: Disease Mechanism, Current Management and Therapeutic Development. Springer, 2018.

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38

Takahashi, Masanori P., e Tsuyoshi Matsumura. Myotonic Dystrophy: Disease Mechanism, Current Management and Therapeutic Development. Springer, 2019.

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39

Publications, ICON Health. Myotonic Dystrophy - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References. ICON Health Publications, 2004.

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40

Shaibani, Aziz. EMG Findings. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0028.

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While this chapter and even this book are not intended to be a textbook in electrodiagnosis, we have chosen video samples of typical abnormal discharges that neuromuscular specialists often face, such as myopathic units, myotonic discharges, myokymia, fibrillations, and neurogenic firing. Other EMG clips are embedded in other chapters. It is not unusual for referred neuromuscular patients to carry an erroneous clinical diagnosis based on incidental EMG discharges such as myotonic discharges. On the other hand, voluntary activity may be reported as abnormal discharges and a diagnosis of denervation is erroneously given. Knowledge of anatomy, physiology, and clinical neuromuscular medicine are important for an EMG to be useful in the diagnosis.

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41

History of Medicine Collections (Duke e William 1666-1709 Cowper. Myotomia Reformata, or, a New Administration of All the Muscles of Humane Bodies: ; C. 1. Creative Media Partners, LLC, 2021.

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42

Jolly, Elaine, Andrew Fry e Afzal Chaudhry, a cura di. Genetics. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199230457.003.0010.

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Chapter 10 covers the basic science and clinical topics relating to genetics which trainees are required to learn as part of their basic training and demonstrate in the MRCP. It covers karyotype, mitosis, and meiosis, mechanisms of inheritance/disease transmission, mitochondrial disease, trinucleotide repeats and imprinting, investigative techniques in genetic medicine, Down syndrome, Klinefelter syndrome, Turner syndrome, neurofibromatosis, tuberous sclerosis, myotonic dystrophy, Friedreich ataxia, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, and Ehlers-Danlos syndrome.

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43

Teasdale, Andrew, e Jane Halsall. Neurological and muscular disorders. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198719410.003.0011.

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This chapter describes the anaesthetic management of the patient with those neurological or muscular disorders which are relevant to anaesthetic practice, including malignant hyperthermia. Other topics covered include epilepsy, cerebrovascular disease, Parkinson’s disease, spinal cord lesions, myasthenia gravis, multiple sclerosis, Guillain-Barré syndrome, motor neuron disease, dystrophia myotonica, and the muscular dystrophies. For each topic, preoperative investigation and optimization, treatment, and anaesthetic management are described. For malignant hyperthermia, trigger-free anaesthetic techniques are described, as well as the management of an acute episode.

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44

Teasdale, Andrew, e Jane Halsall. Neurological and muscular disorders. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198719410.003.0011_update_001.

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Abstract (sommario):

This chapter describes the anaesthetic management of the patient with those neurological or muscular disorders which are relevant to anaesthetic practice, including malignant hyperthermia. Other topics covered include epilepsy, cerebrovascular disease, Parkinson’s disease, spinal cord lesions, myasthenia gravis, multiple sclerosis, Guillain-Barré syndrome, motor neuron disease, dystrophia myotonica, and the muscular dystrophies. For each topic, preoperative investigation and optimization, treatment, and anaesthetic management are described. For malignant hyperthermia, trigger-free anaesthetic techniques are described, as well as the management of an acute episode.

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45

Kuhn, E. Progressive Muskeldystrophie Myotonie · Myasthenie: Symposium vom 30. November bis 4. Dezember 1965 anläßlich der 125. Wiederkehr des Geburtstages von Wilhelm Erb. Springer, 2012.

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46

Shaibani, Aziz. Electromyogram (EMG) Findings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0028.

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Abstract (sommario):

While this chapter, and even this book, are not intended to be a textbook in electrodiagnosis, we have chosen video samples of typical abnormal discharges that often are faced by neuromuscular specialists, such as myopathic units, myotonic discharges, myokymia, fibrillation, and neurogenic firing. Other electromyogram (EMG) clips are embedded in other chapters. Firing frequency of the motor unit potentials can be calculated and it is increased in denervation. Observation for 40–60 seconds may be needed to detect infrequent fasciculations after needle placement. Mixed short and long duration is a features of chronic myopathy and can be confused with chronic denervation.

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47

Brown, James P. R., e M. Joanne Douglas. Musculoskeletal disorders. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198713333.003.0046.

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This chapter describes the major musculoskeletal diseases stating manifestations, associations, and their implications for pregnancy, delivery, and obstetric anaesthesia. It reviews and summarizes the literature, presenting the available evidence for methods of mitigating risks to the parturient. The chapter starts by discussing the pathophysiology, presentation, diagnosis, and management of malignant hyperthermia. The following conditions are then introduced in turn: backache, scoliosis, myopathies (including myotonic dystrophy), Ehlers–Danlos syndrome, rheumatoid arthritis, ankylosing spondylitis, achondroplasia, and osteogenesis imperfecta. The chapter aims to provide a pragmatic resource to allow obstetric anaesthetists to make informed decisions and management plans when faced with caring for a parturient with an uncommon musculoskeletal condition.

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48

Manlapaz, Mariel, e Perin Kothari. Neuromuscular Disorders and Anesthesia. A cura di David E. Traul e Irene P. Osborn. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190850036.003.0029.

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The various neuromuscular diseases present with different airway, cardiovascular, pulmonary, and anesthetic considerations. It is useful to categorize these different diseases into nerve, neuromuscular junction, and primary muscle diseases. Understanding their pathophysiology is paramount in choosing the right anesthetic drugs (for example, depolarizing versus nondepolarizing and regional versus general anesthesia). Knowing their manifestations such as autonomic dysfunction, skeletal/cardiac/smooth/bulbar muscle involvement, or tendency for tonic contraction, allows for expectant perioperative management. Finally appreciating their association with certain disease states such as malignant hyperthermia or endocrine dysfunction can prevent complications. A brief review of myotonic dystrophy is presented here, followed by a brief summary of anesthetic considerations for various neuromuscular diseases.

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49

Harrison, John Henry, e Magdalena Anitescu. Neuraxial Anesthesia in Coexisting Neurologic Conditions. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190271787.003.0041.

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Some patients who need surgery may have coexisting neurologic disorders like multiple sclerosis, amyotrophic lateral sclerosis, peripheral neuropathies (e.g., Charcot-Marie-Tooth disease or Guillain-Barré syndrome), or muscular dystrophies (e.g., Duchenne’s or myotonic dystrophy). When neuraxial analgesia and anesthesia are indicated, the anesthesiologist should be aware of the risks and benefits of the technique. Neuraxial anesthesia is not absolutely contraindicated in nervous system diseases and there are undeniable benefits to ruling out general anesthesia. In patients with coexisting neurologic disorders, prolonged sensory and motor block can be confused with epidural hematoma and abscess when present. Minor nerve injury from local anesthetic cytotoxicity or ischemia and mechanical trauma may cause permanent nerve injury through the double crush phenomenon. Lower concentrations of local anesthetics are generally recommended.

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50

Cohen, Jeffrey A., Justin J. Mowchun, Victoria H. Lawson e Nathaniel M. Robbins. A 39-Year-Old Man with Low Back Pain and Scapular Winging. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190491901.003.0023.

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Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy, following Duchenne muscular dystrophy and myotonic dystrophy. The clinical secerity is extremely variable, with symptom onset anywhere from infancy to middle adulthood. The cardinal clinical features of facioscapulohumeral muscular dystrophy include facial weakness and scapular winging. Other important examination findings including scalloping of the trapezius, “Popeye” forearms, horizontal axillary folds, and a positive Beevor’s sign. It can rarely present as a pattern of weakness mimicking limb-girdle muscular dystrophy with approximately 20% of patients eventually requiring a wheelchair for ambulation. Creatine kinase is normal or mildly elevated. Genetic testing for the D4Z4 repeat contraction on chromosome 4q35 detects 95% of cases but may not reflect severity of the disease.

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Libri sul tema "Myotonia"

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