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Continuum: Lifelong Learning in Neurology

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https://www.readbyqxmd.com/read/27922875/list-of-abbreviations
#1
(no author information available yet)
No abstract text is available yet for this article.
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922874/key-points-for-issue
#2
(no author information available yet)
No abstract text is available yet for this article.
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922873/issue-overview
#3
(no author information available yet)
No abstract text is available yet for this article.
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922512/index
#4
(no author information available yet)
No abstract text is available yet for this article.
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922511/patient-management-problem-preferred-responses
#5
Hannah R Briemberg
No abstract text is available yet for this article.
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922510/patient-management-problem
#6
Hannah R Briemberg
No abstract text is available yet for this article.
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922509/postreading-self-assessment-and-cme-test-preferred-responses
#7
Ronnie Bergen, Douglas J Gelb
No abstract text is available yet for this article.
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922508/postreading-self-assessment-and-cme-test
#8
Ronnie Bergen, Douglas J Gelb
No abstract text is available yet for this article.
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922507/instructions-for-completing-postreading-self-assessment-and-cme-test-and-tally-sheet
#9
(no author information available yet)
No abstract text is available yet for this article.
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922506/coding-in-muscle-disease
#10
Lyell K Jones, John P Ney
Accurate coding is critically important for clinical practice and research. Ongoing changes to diagnostic and billing codes require the clinician to stay abreast of coding updates. Payment for health care services, data sets for health services research, and reporting for medical quality improvement all require accurate administrative coding. This article provides an overview of administrative coding for patients with muscle disease and includes a case-based review of diagnostic and Evaluation and Management (E/M) coding principles in patients with myopathy...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922505/registry-participation-in-neuromuscular-disease
#11
Anant M Shenoy
Patient registries are a resource to better study neurologic disease and may facilitate the development of future treatments. Clinicians should become comfortable with the strengths and limitations of patient registries and be able to discuss them with their patients. This article discusses the use of patient registries through the example of registries for patients with neuromuscular disease.
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922504/genetic-testing-of-presymptomatic-individuals-at-risk-for-progressive-myopathy
#12
Zachary Simmons
Patients and their family members often ask about genetic testing for asymptomatic individuals who are at risk for developing a genetic disorder. Ordering a genetic test is a complex process involving consideration of many basic ethical principles including autonomy, beneficence, and nonmaleficence, as well as the physician's duty to act in the patient's best interest. Physicians have many choices regarding what tests to order, and they must develop the knowledge and skills to best discuss genetic testing with their patients...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922503/myasthenia-gravis-and-lambert-eaton-myasthenic-syndrome
#13
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
https://www.readbyqxmd.com/read/27922502/the-limb-girdle-muscular-dystrophies-and-the-dystrophinopathies
#14
Stanley Jones P Iyadurai, John T Kissel
PURPOSE OF REVIEW: The classic approach to identifying and accurately diagnosing limb-girdle muscular dystrophies (LGMDs) relied heavily on phenotypic characterization and ancillary studies including muscle biopsy. Because of rapid advances in genetic sequencing methodologies, several additional LGMDs have been molecularly characterized, and the diagnostic approach to these disorders has been simplified. This article summarizes the epidemiology, clinical features, and genetic defects underlying the LGMDs...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922501/an-overview-of-congenital-myopathies
#15
Jean K Mah, Jeffrey T Joseph
PURPOSE OF REVIEW: This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. RECENT FINDINGS: Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922500/facioscapulohumeral-muscular-dystrophy
#16
Jeffrey M Statland, Rabi Tawil
PURPOSE OF REVIEW: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). RECENT FINDINGS: FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4. Approximately 95% of patients have FSHD type 1 (FSHD1), in which loss of DNA repetitive elements (D4Z4 repeats) in the subtelomeric region of chromosome 4q causes decreased methylation and epigenetic derepression of DUX4, a gene contained within each D4Z4 repeat...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922499/the-dystrophic-and-nondystrophic-myotonias
#17
Valeria A Sansone
PURPOSE OF REVIEW: This article describes clinical and electrical myotonia and provides an update on the classification, diagnosis, and management of myotonic disorders. RECENT FINDINGS: In the myotonic dystrophies, antisense oligonucleotides provide a general strategy to correct RNA gain of function and modulate the expression of CTG expanded repeats; they are currently being tested in a phase 1-2 randomized controlled trial in patients with adult-onset myotonic dystrophy type 1...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922498/inclusion-body-myositis
#18
Steven A Greenberg
PURPOSE OF REVIEW: Inclusion body myositis (IBM) is an enigmatic progressive disease of skeletal muscle. This review provides a summary of the clinical and pathophysiologic aspects of IBM. RECENT FINDINGS: The development of diagnostic blood testing for IBM followed from the discovery of a B-cell pathway in IBM muscle and circulating autoantibodies against NT5C1A, further establishing IBM's status as an autoimmune disease. The key role of cytotoxic T cells in IBM is further supported by the identification of a link between IBM and T-cell large granular lymphocytic leukemia...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922497/autoimmune-myopathies
#19
Andrew L Mammen
PURPOSE OF REVIEW: This article provides guidelines for diagnosing and treating the different subtypes of autoimmune myopathies. RECENT FINDINGS: The most common subtypes of autoimmune myopathies are dermatomyositis, immune-mediated necrotizing myopathy, antisynthetase syndrome, and overlap syndromes; isolated polymyositis is an exceptionally rare disease. Specific autoantibodies are associated with unique clinical phenotypes and may be used for diagnostic and prognostic purposes, such as to assess the risk of coexisting malignancy...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922496/metabolic-myopathies
#20
Mark A Tarnopolsky
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. RECENT FINDINGS: The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy; however, most cases present in childhood or in adulthood with exercise intolerance (often with rhabdomyolysis) and weakness...
December 2016: Continuum: Lifelong Learning in Neurology
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