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https://www.readbyqxmd.com/read/27922574/drop-body-syndrome-a-distinct-form-of-adult-spinal-deformity
#1
Mitsuru Yagi, Shinjiro Kaneko, Yoshiyuki Yato, Takashi Asazuma
STUDY DESIGN: A retrospective observational study. OBJECTIVE: This study examined the role of skeletal muscles in the spinal alignment of lumbar degenerative kyphosis (LDK). SUMMARY OF BACKGROUND DATA: Adult spinal deformity (ASD) may present as LDK, which is unusual in that it typically lacks any coronal deformity. METHODS: This retrospective study included 367 female ASD. Demographic and radiographic data from LDKs were compared with those with other ASD...
December 2, 2016: Spine
https://www.readbyqxmd.com/read/27922506/coding-in-muscle-disease
#2
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/27922504/genetic-testing-of-presymptomatic-individuals-at-risk-for-progressive-myopathy
#3
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/27922501/an-overview-of-congenital-myopathies
#4
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/27922497/autoimmune-myopathies
#5
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
#6
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
https://www.readbyqxmd.com/read/27922495/toxic-and-endocrine-myopathies
#7
Hans D Katzberg, Charles D Kassardjian
PURPOSE OF REVIEW: This article discusses the clinical features, pathophysiology, and management of toxic and endocrine myopathies. RECENT FINDINGS: Early detection and expeditious correction of metabolic disturbances in endocrinopathies such as Cushing syndrome, thyroid and parathyroid diseases, and acromegaly can minimize and prevent neurologic complications including myopathy. Recently proposed mechanisms of injury in patients with critical illness myopathy include inhibition of protein synthesis, mitochondrial dysfunction, disruption of the ubiquitin-proteasome system, oxidative stress, and disruption of intramuscular calcium homeostasis, which can cause a myosin-loss myopathy...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922492/myopathy-is-youropathy
#8
(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/27919547/granuloma-formation-in-a-patient-with-gne-myopathy-a-case-report
#9
Keiko Nakamura, Tsuyoshi Hamaguchi, Kenji Sakai, Daisuke Noto, Kenjiro Ono, Yukiko Hayashi, Ichizo Nishino, Masahito Yamada
We report a patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene. The patient recognized progressive weakness of extremities at age 60. Neurological examination at age 65 revealed severe weakness and atrophy in the tibialis anterior muscles and distal predominant moderate weakness in the extremities. Muscle biopsy performed at age 65 showed myopathic changes with rimmed vacuoles, and the noteworthy finding was non-caseating epithelioid cell granuloma formation surrounded by numerous inflammatory cells...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27918309/intraoperative-presentation-of-malignant-hyperthermia-confirmed-by-ryr1-gene-mutation-c-7522c-t-p-r2508c-leads-to-diagnosis-of-king-denborough-syndrome-in-a-child-with-hypotonia-and-dysmorphic-features
#10
Mark R Joseph, Mary C Theroux, James J Mooney, Shawn Falitz, Barbara W Brandom, Debra L Byler
We present the novel case report of a child with hypotonia and dysmorphic features who developed malignant hyperthermia (MH) intraoperatively. Neurology workup revealed the presence of a known causative ryanodine receptor (RYR1) mutation for MH, c.7522C>T; p.R2508C. Furthermore, the neurology workup diagnosed the child with King-Denborough syndrome (KDS). This particular mutation has never been documented in a patient with KDS. Atypical presentation of MH is more likely in patients with RYR1-related myopathy...
December 1, 2016: A & A Case Reports
https://www.readbyqxmd.com/read/27917636/-immune-mediated-necrotizing-myopathy-associated-with-statin-treatment
#11
Jiří Vencovský
Immune mediated necrotizing myopathy (IMNM) is an acquired inflammatory myopathy. One form of the disease is associated with serum anti-HMGCR autoantibodies and significant proportion of patients has a history of statin treatment. The disease is rare with the incidence estimated around 23 cases/100 000 statin treated individuals. In contrast to direct statin toxicity, anti-HMGCR associated IMNM is an induced autoimmune disease.Patients suffer particularly from severe muscle weakness, which may be occasionally totally immobilizing...
2016: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/27916937/the-emergence-and-epidemiology-of-haff-disease-in-china
#12
REVIEW
Thomas Y K Chan
Haff disease is a rare syndrome of unexplained myalgia and rhabdomyolysis occurring within 24 h of consumption of certain types of cooked freshwater fish or crustacean. It is caused by a yet unidentified heat-stable toxin. In the present review of published case studies and official press releases, the main objective is to report the emergence and epidemiology of Haff disease in China. Haff disease first occurred in Beijing in 2000 and in Lianzhou and Liannan, Guangdong Province in 2009. Subsequent outbreaks mostly occurred in the Jiangsu Province-Nanjing, Yangzhou, Huai'an, and Yancheng...
December 1, 2016: Toxins
https://www.readbyqxmd.com/read/27916754/-autoantibodies-of-inflammatory-myopathies-update
#13
Shigeaki Suzuki
Inflammatory myopathies are a heterogeneous group of immune-mediated diseases that involve the skeletal muscle as well as many other organs. In addition to a histological diagnosis at muscle biopsy, the clinical phenotypes of inflammatory myopathies can be defined by the presence of various autoantibodies that are originally detected by RNA or protein immunoprecipitation. However, the correlation between histological features and autoantibodies has not been fully elucidated. Immune-mediated necrotizing myopathy (IMNM), which is characterized by significant necrotic and regeneration muscle fibers with minimal or no inflammatory cell infiltration, is associated with the presence of autoantibodies...
December 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27916753/-diagnosis-of-idiopathic-inflammatory-myopathy-a-muscle-pathology-perspective
#14
Michio Inoue, Ichizo Nishino
Idiopathic inflammatory myopathies are historically classified into polymyositis and dermatomyositis based on the presence or absence of skin lesions. Recently, however, a more histology-oriented classification into 6 subtypes has been proposed. The subtypes include dermatomyositis, polymyositis, inclusion body myositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, and non-specific myositis. With strict criteria applied, polymyositis is now extremely rare, while immune-mediated necrotizing myopathy is the most common among all inflammatory myopathies and is often associated with autoantibodies including those for signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR)...
December 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27916343/cardiac-autophagic-vacuolation-in-severe-x-linked-myopathy-with-excessive-autophagy
#15
Iulia Munteanu, Hannu Kalimo, Antti Saraste, Ichizo Nishino, Berge A Minassian
X-linked myopathy with excessive autophagy (XMEA), caused by mutations of the VMA21 gene, is a strictly skeletal muscle disease. Extensive studies in yeast established VMA21 as the master assembly chaperone of V-ATPase, the complex multisubunit proton pump that acidifies organelles and that is vital to all mammalian tissues. As such, skeletal muscle disease exclusivity in XMEA is highly surprising. We now show that the severest VMA21 mutation, c.164-6t>g, does result in XMEA-typical pathology with autophagic vacuolar changes outside skeletal muscle, namely in the heart...
October 19, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#16
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27913002/clinical-evaluation-and-management-of-radiation-fibrosis-syndrome
#17
REVIEW
Michael D Stubblefield
Radiation fibrosis syndrome describes the multiple neuromuscular, musculoskeletal, visceral, and other late effects that result from radiation-induced fibrosis. Radiation can damage the spinal cord, nerve roots, plexus, local peripheral nerves, and muscles within the radiation field. This constellation is known as a "myelo-radiculo-plexo-neuro-myopathy" and can result in pain, sensory loss, weakness, and other signs and symptoms. Although there is no curative treatment for radiation damage, supportive management of symptoms can be helpful in restoring and maintaining function and quality of life...
February 2017: Physical Medicine and Rehabilitation Clinics of North America
https://www.readbyqxmd.com/read/27912993/rehabilitation-in-chronic-graft-versus-host-disease
#18
REVIEW
Sean Robinson Smith, Arash Asher
Chronic graft-versus-host disease is a potentially debilitating complication of allogeneic hematopoietic stem cell transplantation. Due to the direct inflammatory effects of the disease on tissue, and the impact on muscle and bone of the high-dose glucocorticoid immunosuppression used to treat the disease, patients are at risk of developing multifactorial functional impairment. This review outlines the clinical assessment and rehabilitation interventions to manage aspects of the disease that cause the most impairment: involvement of the skin/fascial and cardiopulmonary organ systems, as well as steroid-induced myopathy and bone and joint destruction...
February 2017: Physical Medicine and Rehabilitation Clinics of North America
https://www.readbyqxmd.com/read/27911874/effects-of-dietary-vitamin-e-deficiency-on-systematic-pathological-changes-and-oxidative-stress-in-fish
#19
Kaiyu Wang, Erlong Wang, Zhenyang Qin, Zhen Zhou, Yi Geng, Defang Chen
The aim of this study was to investigate the effects of dietary vitamin E deficiency on systematic pathological changes and oxidative stress in fish. A total of 320 healthy common carp (Cyprinus carpio) were randomized into four groups; the control group was fed a basal diet supplemented with 100 IUkg-1 of vitamin E, while the three experimental groups were fed the same basal diet with reduced vitamin E content (0, 25, or 50 IUkg-1). Findings showed that fish in the experimental groups mainly presented with sekoke disease, exophthalmia, leprnorthsis, and ascites...
November 30, 2016: Oncotarget
https://www.readbyqxmd.com/read/27911767/phosphatidylinositol-3-kinase-inhibition-restores-ca2-release-defects-and-prolongs-survival-in-myotubularin-deficient-mice
#20
Candice Kutchukian, Mirella Lo Scrudato, Yves Tourneur, Karine Poulard, Alban Vignaud, Christine Berthier, Bruno Allard, Michael W Lawlor, Ana Buj-Bello, Vincent Jacquemond
Mutations in the gene encoding the phosphoinositide 3-phosphatase myotubularin (MTM1) are responsible for a pediatric disease of skeletal muscle named myotubular myopathy (XLMTM). Muscle fibers from MTM1-deficient mice present defects in excitation-contraction (EC) coupling likely responsible for the disease-associated fatal muscle weakness. However, the mechanism leading to EC coupling failure remains unclear. During normal skeletal muscle EC coupling, transverse (t) tubule depolarization triggers sarcoplasmic reticulum (SR) Ca(2+) release through ryanodine receptor channels gated by conformational coupling with the t-tubule voltage-sensing dihydropyridine receptors...
November 28, 2016: Proceedings of the National Academy of Sciences of the United States of America
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