Relevant bibliographies by topics / Musculo skeletal disorders / Books

Books on the topic 'Musculo skeletal disorders'

To see the other types of publications on this topic, follow the link: Musculo skeletal disorders.
Author: Grafiati
Published: 10 December 2022
Last updated: 28 January 2023

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 37 books for your research on the topic 'Musculo skeletal disorders.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse books on a wide variety of disciplines and organise your bibliography correctly.

1

Stonebrink, Richard D. Evaluation and manipulation management of common musculo-skeletal disorders. [Portland, Ore: Western States Chiropractic College], 1990.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
2

Stonebrink, Richard D. Evaluation and manipulative management of common musculo-skeletal disorders. 2nd ed. [Portland, Or.?]: R.D. Stonebrink, 1996.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
3

Parkes, Katharine R. Musculo-skeletal disorders, mental health and the work environment. Sudbury: HSE Books, 2005.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
4

Page, Frederick T. Occupational groups and the occurrence of musculo-skeletal disorders in industry: "an ergonomic approach". Bournemouth, England: Anglo-European College of Chiropractic, 1985.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
5

Karpati, George. Disorders of voluntary muscle. 8th ed. Cambridge: Cambridge University Press, 2010.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
6

Sayler, Mary Harwell. The encyclopedia of the muscle and skeletal systems and disorders. New York, NY: Facts On File, 2005.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
7

American Academy of Orthopaedic Surgeons, ed. Disorders of the proximal biceps tendon: Evaluation and treatment. Rosemont, IL: AAOS, American Academy of Orthopaedic Surgeons, 2014.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
8

David, Legge. Close to the bone: The treatment of musculo-skeletal disorder with acupuncture and other traditional Chinese medicine. 2nd ed. Woy Woy, N.S.W: Sydney College Press, 1997.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
9

Close to the bone: The treatment of musculo-skeletal disorder with acupuncture and other traditional Chinese medicine. Woy Woy, NSW, Australia: Sydney College Press, 1990.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
10

Karen, Bellenir, ed. Pain sourcebook: Basic consumer health information about specific forms of acute and chronic pain, including muscle and skeletal pain, nerve pain, cancer pain, and disorders characterized by pain, such as fibromyalgia ... 2nd ed. Detroit: Omnigraphics, 2002.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
11

1949-, Mackay Colin, and Great Britain. Health and Safety Executive., eds. Musculo-skeletal disorders in supermarket cashiers. Sudbury: HSE Books, 1998.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
12

Monika, Michalik, Osterholz Uwe, Rauterberg Sabine, and Projektträger "Humanisierung des Arbeitslebens", eds. Work-related musculo-skeletal disorders: Proceedings of an International Symposium. Bonn: Wirtschaftsverlag NW, 1987.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
13

George, Karpati, ed. Disorders of voluntary muscle. 8th ed. Cambridge: Cambridge University Press, 2010.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
14

George, Karpati, ed. Disorders of voluntary muscle. 8th ed. Cambridge: Cambridge University Press, 2009.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
15

Disorders of Voluntary Muscle. Cambridge University Press, 2008.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
16

Lord Walton of Detchant (Foreword), George Karpati (Editor), David Hilton-Jones (Editor), and Robert C. Griggs (Editor), eds. Disorders of Voluntary Muscle. 7th ed. Cambridge University Press, 2001.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
17

Matsuda, Nozomu. Role of Skeletal Muscle MRI inPeripheral Nerve Disorders. INTECH Open Access Publisher, 2012.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
18

Forsyth, Rob, and Richard Newton. Signs and symptoms. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198784449.003.0003.

Full text
Abstract:
This chapter addresses the diagnostic approach to the patterns of symptoms and signs commonly seen in the paediatric neurology clinic. It encourages pattern recognition. The presentations considered are: altered mental state (agitation/confusion); motor disorders (exercise limitation and muscle pain; eye or facial movement abnormalities; the floppy infant; a funny gait; weakness; unsteadiness or falls; toe-walking; disordered sensation, numbness, pain, dysaesthesia; deafness, loss or disturbance of hearing or vision; paroxysmal disorders (funny turns, loss of awareness, epilepsy, headache, movement disorders); developmental delay, impairment or regression, school failure; speech disturbance; behaviour disorder; symptoms that might suggest a spinal disorder such as back pain, incontinence, or scoliosis; other skeletal abnormality including abnormal skull size or shape, foot deformity; sleep disturbance.
APA, Harvard, Vancouver, ISO, and other styles
19

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

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
20

Shaibani, Aziz. Dyspnea. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0009.

Full text
Abstract:
The most common causes of dyspnea are not neuromuscular but rather are cardiac and pulmonary. However, dyspnea is an important and serious manifestation of many neuromuscular disorders, and it may compound an underlying pulmonary or cardiac problem. The diaphragm is a skeletal muscle under the control ofperipheral nerves(phrenic nerves) and may be targeted by inflammatory neuropathies such as Guillain-Barrésyndrome(GBS), chronic inflammatory demyelinating polyneuropathy(CIDP), and brachial plexitis, myopathies such as acid maltase deficiency and muscular dystrophies, and neuromuscular disorders such as myasthenia gravis. Periodic measurement of pulmonary function isrecommended in neuromuscular clinics.
APA, Harvard, Vancouver, ISO, and other styles
21

Hilton-Jones, David. Muscle diseases. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0543.

Full text
Abstract:
This chapter is concerned with those disorders in which the primary pathological process affects skeletal muscle, for which in everyday clinical practice the term myopathy is convenient shorthand. However, it must be stressed that diseases of the motor nerves and neuromuscular junction can produce an identical clinical picture to several of the myopathies, and this will be emphasized many times throughout the chapter when considering differential diagnosis. Indeed sometimes, despite one’s best efforts, one is left uncertain as to whether the primary disease process is in the nerves or muscles—it may be that in some conditions the disease process directly affects both nerves and muscles. The intimate relationship, both structural and functional, between nerves and the muscles they innervate means that disease of one may have a profound effect on the other—the most striking example is the change that occurs to skeletal muscle fibre-type distribution in denervation.
APA, Harvard, Vancouver, ISO, and other styles
22

Shaibani, Aziz. Dyspnea. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0009.

Full text
Abstract:
The most common causes of dyspnea are not neuromuscular, but rather cardiac and pulmonary. However, dyspnea is an important and serious manifestation of many neuromuscular disorders, and it may compound an underlying pulmonary or cardiac problem. The diaphragm is a skeletal muscle under the control of a peripheral nerve and may be targeted by inflammatory neuropathies such as Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyneuropathy (CIDP), and brachial plexitis or myopathies such as acid maltase deficiency, muscular dystrophy (MD), and neuromuscular disorders such as myasthenia gravis (MG). Periodic measurement of pulmonary function is a recommended measure in neuromuscular clinics.
APA, Harvard, Vancouver, ISO, and other styles
23

Rahman, Shamima, and Mirian C. H. Janssen. Disorders of Mitochondrial Energy Metabolism. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0007.

Full text
Abstract:
Mitochondrial disease can be diagnosed at every age, and the clinical presentation is very heterogeneous. In rare cases only a single organ is affected, but multisystem involvement may develop with progression of the disease. Organ systems relying most on aerobic metabolism are preferentially affected, including the central nervous system, peripheral nerves, eye, skeletal and cardiac muscle, and endocrine organs. These disorders can be classified according to whether the causative mutations affect mitochondrial DNA or nuclear DNA. Since specific treatment options are still limited, the management of mitochondrial disorders is largely supportive.
APA, Harvard, Vancouver, ISO, and other styles
24

Stafstrom, Carl E. Disorders Caused by Botulinum Toxin and Tetanus Toxin. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0156.

Full text
Abstract:
Anaerobic organisms of the genus Clostridia (C) can cause significant human disease. Exotoxins secreted by C botulinum and C tetani cause botulism and tetanus, respectively (summarized in Table 156.1). Botulinum neurotoxin causes neuromuscular blockade by interfering with vesicular acetylcholine release, leading to cholinergic blockade at the neuromuscular junctions of skeletal muscle, and consequently, symmetric flaccid paralysis. Tetanus toxin prevents release of inhibitory neurotransmitters at central synapses, leading to overactivity of motor neurons and muscle rigidity and spasms. This chapter reviews clinical features of botulism and tetanus and discusses their pathophysiological basis.
APA, Harvard, Vancouver, ISO, and other styles
25

Sutherland, Tori N., and Kirk Lalwani. Duchenne’s Muscular Dystrophy. Edited by Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi, and Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0035.

Full text
Abstract:
Duchenne’s muscular dystrophy (DMD) is a progressive X-linked recessive disorder that affects boys and female carriers. It is the most common dystrophy with onset in childhood in the United States. It is associated with severe, progressive proximal muscle weakening due to absence of dystrophin, which is found in skeletal and cardiac muscles This chapter presents a review of anesthetic considerations for patients with DMD in the context of the disease’s natural history with special consideration for cardiomyopathy evaluation and management, restrictive lung disease evaluation, and management and postoperative ventilation. The chapter covers an overview of the disease; etiology and pathogenesis; cognitive, neuromuscular, cardiac, and pulmonary clinical presentation; diagnosis and management; and special anesthetic considerations.
APA, Harvard, Vancouver, ISO, and other styles
26

Frise, Matthew C., and Jonathan B. Salmon. Disorders of potassium in the critically ill. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199600830.003.0251.

Full text
Abstract:
Plasma potassium levels are maintained in health between 3.5 and 5.0 mmol/L, and reflect total body potassium only in stable states at normal pH. Most true hyperkalaemia results from renal insufficiency. The goals of therapy are myocardial protection and return of plasma potassium to a safe level. Measures are commonly initiated above 5.5 mmol/L; above 6.5 mmol/L, aggressive measures should be adopted and calcium salts given if there are cardiac dysrhythmias or QRS-broadening. Glucose-insulin infusions and beta-2-agonists promote potassium shifts into cells. Diuretics and sodium bicarbonate may be helpful, but persistent hyperkalaemia is an indication for renal replacement therapy. Hypokalaemia may lead to dangerous arrhythmias, skeletal muscle weakness, ileus, and reduced vascular smooth muscle contractility. Rapid replacement should only be undertaken for severe hypokalaemia or in the context of arrhythmias. Once the extracellular deficit is corrected, there will usually be a continuing need for potassium supplementation to replenish intracellular stores.
APA, Harvard, Vancouver, ISO, and other styles
27

Esen, Figen. Disorders of magnesium in the critically ill. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199600830.003.0252.

Full text
Abstract:
Plasma potassium levels are maintained in health between 3.5 and 5.0 mmol/L, and reflect total body potassium only in stable states at normal pH. Most true hyperkalaemia results from renal insufficiency. The goals of therapy are myocardial protection and return of plasma potassium to a safe level. Measures are commonly initiated above 5.5 mmol/L; above 6.5 mmol/L, aggressive measures should be adopted and calcium salts given if there are cardiac dysrhythmias or QRS-broadening. Glucose-insulin infusions and beta-2-agonists promote potassium shifts into cells. Diuretics and sodium bicarbonate may be helpful, but persistent hyperkalaemia is an indication for renal replacement therapy. Hypokalaemia may lead to dangerous arrhythmias, skeletal muscle weakness, ileus, and reduced vascular smooth muscle contractility. Rapid replacement should only be undertaken for severe hypokalaemia or in the context of arrhythmias. Once the extracellular deficit is corrected, there will usually be a continuing need for potassium supplementation to replenish intracellular stores.
APA, Harvard, Vancouver, ISO, and other styles
28

Maegawa, Gustavo H. B. Lysosomal Storage Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0068.

Full text
Abstract:
The lysosomal storage disorders (LSDs) are a group of inborn organelle disorders, clinically heterogeneous, and biochemically characterized by accumulation of nondegraded macromolecules primarily in the lysosomal and other cellular compartments. Given the common and essential cellular function of the lysosomal system in different organs and systems, patients afflicted with these disorders present a broad range of clinical problems, including neurological problems, visceromegaly, and skeletal deformities. Onset of symptoms may range from fetal period to adulthood. The neurological problems include developmental delay, seizures, acroparesthesia, motor weakness, muscle wasting, behavioral/psychiatric disturbances, cerebrovascular ischemic events, and extrapyramidal signs. Patients may present with symptoms later that include psychiatric manifestations, are slowly progressive, and may precede other neurologic or systemic features. Most of LSDs are autosomal recessive; however, a few are X-linked with symptpmatic female carriers (e.g., Fabry disease). In most of them, the diagnosis is established by biochemical and/or molecular assays. In terms of management, disease-modifying therapies include enzyme replacement, hematopoietic stem cell transplantation, and substrate reduction therapy. Patients and their families require genetic counseling regarding reproductive risks, disease prognosis, and therapeutic options. Investigations of disease molecular mechanisms provide insights into potential targets for the development of therapeutic strategies. Supportive care has been the key and essential for most LSDs, resulting in substantial improvement in quality of life of patients and families.
APA, Harvard, Vancouver, ISO, and other styles
29

Jadon, Deepak R., Tehseen Ahmed, and Ashok K. Bhalla. Disorders of bone mineralization—osteomalacia. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0146.

Full text
Abstract:
Disorders of bone mineralization cause rickets in children and osteomalacia in adults. Both remain common in developing countries. Incidence in Western countries had declined since the fortification of foodstuffs, but appears to be increasing again. Calcium and inorganic phosphate are the key precursors for bone mineralization and growth. The commonest aetiology of osteomalacia is vitamin D deficiency, primarily due to low dietary intake and inadequate sun exposure. In the last decade gene mutations have been identified that are responsible for inherited rickets and osteomalacia, particularly those that result in phosphate deficiency, hypophosphatasia, and vitamin D receptor or metabolizing enzyme mutations. Additionally, the pathogenesis of tumour-induced osteomalacia is becoming better understood. Osteomalacia may present as bone pain and tenderness, muscle pain and weakness, and skeletal deformity or fracture. Key investigations include biochemical assessment and plain radiographs. Radioisotope bone scans and bone biopsy may be considered in selected cases. Differential diagnoses include osteoporosis, seronegative arthritides, and localized soft tissue disorders. Treatment, guided by the underlying aetiology, aims to reduce symptoms, fracture risk, bone deformity and sequelae. Vitamin D deficient patients require vitamin D and calcium replacement.
APA, Harvard, Vancouver, ISO, and other styles
30

Jadon, Deepak R., Tehseen Ahmed, and Ashok K. Bhalla. Disorders of bone mineralization—osteomalacia. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199642489.003.0146_update_001.

Full text
Abstract:
Disorders of bone mineralization cause rickets in children and osteomalacia in adults. Both remain common in developing countries. Incidence in Western countries had declined since the fortification of foodstuffs, but appears to be increasing again. Calcium and inorganic phosphate are the key precursors for bone mineralization and growth. The commonest aetiology of osteomalacia is vitamin D deficiency, primarily due to low dietary intake and inadequate sun exposure. In the last decade gene mutations have been identified that are responsible for inherited rickets and osteomalacia, particularly those that result in phosphate deficiency, hypophosphatasia, and vitamin D receptor or metabolizing enzyme mutations. Additionally, the pathogenesis of tumour-induced osteomalacia is becoming better understood. Osteomalacia may present as bone pain and tenderness, muscle pain and weakness, and skeletal deformity or fracture. Key investigations include biochemical assessment and plain radiographs. Radioisotope bone scans and bone biopsy may be considered in selected cases. Differential diagnoses include osteoporosis, seronegative arthritides, and localized soft tissue disorders. Treatment, guided by the underlying aetiology, aims to reduce symptoms, fracture risk, bone deformity and sequelae. Vitamin D deficient patients require vitamin D and calcium replacement.
APA, Harvard, Vancouver, ISO, and other styles
31

Lori, M.D. Siegel (Foreword), ed. The Encyclopedia of Muscle and Skeletal Systems and Disorders (Facts on File Library of Health and Living). Facts on File, 2005.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
32

Rich, Mark M. Critical Illness Neuropathy, Myopathy, and Sodium Channelopathy. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199653461.003.0033.

Full text
Abstract:
Skeletal muscle weakness is a common problem that complicates recovery from critical illness. The primary causes of weakness include neuropathic disorders, myopathic disorders, and mixed disorders. Recent studies have demonstrated that reduced excitability of the nerve and muscle cell membranes might contribute to weakness during the acute stages of the polyneuropathy and myopathy encountered in critically ill patients. In both tissues, an acquired sodium channelopathy can lead to increased inactivation of channels, leading to inexcitability an paralysis. Experimental sepsis models have demonstrated a similar reduction in excitability in myocardial cells as well as in motor neurons within the spinal cord. The presence of a channelopathy in multiple tissues raises the possibility that reduced excitability of neurons within the CNS might contribute to septic encephalopathy. If this is the case, a single therapy to improve excitability might treat failure of a number of electrically active tissues.
APA, Harvard, Vancouver, ISO, and other styles
33

Gray, Françoise, Charles Duyckaerts, and Umberto De Girolami, eds. Escourolle and Poirier's Manual of Basic Neuropathology. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199929054.001.0001.

Full text
Abstract:
Now in its 5th edition, this resource is one of the most respected texts in neuropathology and provides an introduction to the various diseases of the nervous system and their underlying pathology. It covers the full spectrum of the various categories of neurologic disease, including neoplasia, trauma, vascular disease, and infection, with separate chapters on prion diseases, multiple sclerosis, degenerative disorders, acquired metabolic diseases, hereditary metabolic diseases, congenital malformations, perinatal diseases, skeletal muscle, peripheral nerve, and the pituitary gland. The most current techniques in neuropathology are covered in their own chapter at the end of the book. Richly illustrated throughout, it features over 700 images of various neuropathogical diagnoses such as tumor, stroke, infection, degeneration, and malformation, among others.
APA, Harvard, Vancouver, ISO, and other styles
34

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

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
35

Chinoy, Hector, and Robert G. Cooper. Polymyositis and dermatomyositis. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0124.

Full text
Abstract:
Polymyositis (PM), dermatomyositis (DM), and inclusion body myositis (IBM) form part of the idiopathic inflammatory myopathies (IIM), a heterogeneous group of rare autoimmune diseases characterized by an acquired proximal muscle weakness, raised muscle enzymes (including creatine kinase), inflammatory cell infiltrates in muscle biopsy tissue, electrophysiological abnormalities, and presence of circulating myositis-specific/myositis-associated autoantibodies. The underlying aetiology of IIM is poorly understood, but likely involves interactions between environmental and genetic risk factors. Myositis may also manifest in association with other connective tissue disorders. The predominant clinical presentation of IIM is skeletal muscle weakness, but many extramuscular features can also occur. Access to good neuropathological support is essential in securing an accurate IIM diagnosis and excluding non-inflammatory myopathies, although IBM is often difficult to distinguish from PM. Antibody testing can help define IIM clinical subtypes, including cancer-associated myositis, predict prognosis, and help in optimizing treatment decisions. MRI can be invaluable for differentiating disease activity from damage, and detecting treatment-induced interval changes. Therapeutic effectiveness of new and existing treatments (where the evidence base remains poor) depends on making a prompt diagnosis and initiating early and appropriately aggressive treatment to prevent establishment of muscle damage. This chapter attempts to summarize the salient features of IIM and update the reader about currently used diagnostics and treatment paradigms in this rare and understudied disease.
APA, Harvard, Vancouver, ISO, and other styles
36

Hamel, Johanna, and Emma Ciafaloni. Neuromuscular Diseases. Edited by Emma Ciafaloni, Cheryl Bushnell, and Loralei L. Thornburg. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190667351.003.0024.

Full text
Abstract:
Myasthenia gravis is an acquired autoimmune disorder characterized by weakness of skeletal muscle, which often affects women in the childbearing age. A number of questions arise when a woman with myasthenia gravis plans to become pregnant or presents with pregnancy, as myasthenia can affect the pregnancy, delivery and the fetus. In addition, the pregnancy can affect the course of myasthenia and worsening of the disease during pregnancy may require treatment modifications. Therefore supportive counseling, ideally preceding conception, is indicated, focusing on issues of fertility, treatment optimization and drug safety, risks of worsening of symptoms during pregnancy and delivery. Counseling on possible effects on the infant should be discussed, as such as neonatal myasthenia gravis, a treatable and transient disease. Patients with myasthenia gravis may require more intensive monitoring and care, and should be supported by a multidisciplinary team involving the obstetrician, anesthesiologist, and neurologist.
APA, Harvard, Vancouver, ISO, and other styles
37

Hall, Andrew, and Shamima Rahman. Mitochondrial diseases and the kidney. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0340.

Full text
Abstract:
Mitochondrial disease can affect any organ in the body including the kidney. As increasing numbers of patients with mitochondrial disease are either surviving beyond childhood or being diagnosed in adulthood, it is important for all nephrologists to have some understanding of the common renal complications that can occur in these individuals. Mitochondrial proteins are encoded by either mitochondrial or nuclear DNA (mtDNA and nDNA, respectively); therefore, disease causing mutations may be inherited maternally (mtDNA) or autosomally (nDNA), or can arise spontaneously. The commonest renal phenotype in mitochondrial disease is proximal tubulopathy (Fanconi syndrome in the severest cases); however, as all regions of the nephron can be affected, from the glomerulus to the collecting duct, patients may also present with proteinuria, decreased glomerular filtration rate, nephrotic syndrome, water and electrolyte disorders, and renal tubular acidosis. Understanding of the relationship between underlying genotype and clinical phenotype remains incomplete in mitochondrial disease. Proximal tubulopathy typically occurs in children with severe multisystem disease due to mtDNA deletion or mutations in nDNA affecting mitochondrial function. In contrast, glomerular disease (focal segmental glomerulosclerosis) has been reported more commonly in adults, mainly in association with the m.3243A<G point mutation. Co-enzyme Q10 (CoQ10) deficiency has been particularly associated with podocyte dysfunction and nephrotic syndrome in children. Underlying mitochondrial disease should be considered as a potential cause of unexplained renal dysfunction; clinical clues include lack of response to conventional therapy, abnormal mitochondrial morphology on kidney biopsy, involvement of other organs (e.g. diabetes, cardiomyopathy, and deafness) and a maternal family history, although none of these features are specific. The diagnostic approach involves acquiring tissue (typically skeletal muscle) for histological analysis, mtDNA screening and oxidative phosphorylation (OXPHOS) complex function tests. A number of nDNA mutations causing mitochondrial disease have now been identified and can also be screened for if clinically indicated. Management of mitochondrial disease requires a multidisciplinary approach, and treatment is largely supportive as there are currently very few evidence-based interventions. Electrolyte deficiencies should be corrected in patients with urinary wasting due to tubulopathy, and CoQ10 supplementation may be of benefit in individuals with CoQ10 deficiency. Nephrotic syndrome in mitochondrial disease is not typically responsive to steroid therapy. Transplantation has been performed in patients with end-stage kidney disease; however, immunosuppressive agents such as steroids and tacrolimus should be used with care given the high incidence of diabetes in mitochondrial disease.
APA, Harvard, Vancouver, ISO, and other styles
You might also be interested in the bibliographies on the topic 'Musculo skeletal disorders' for other source types:
Journal articles Dissertations / Theses
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!

To the bibliography