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(Myopathy)
180,522 results
  • [Tubular aggregate myopathy and Stormorken syndrome]. [Journal Article]
  • MSMed Sci (Paris) 2018; 34 Hors série n°2:26-31
  • Böhm J, Laporte J
  • Calcium (Ca2+) is an essential regulator for a large number of cellular functions in various tissues and organs, and small disturbances of Ca2+ homeostasis can severely compromise normal physiology. ...
  • Needle Electromyography and Histopathologic Correlation in Myopathies. [Journal Article]
  • MNMuscle Nerve 2018 Nov 10
  • Sener U, Martinez-Thompson J, … Rubin DI
  • CONCLUSIONS: Fibrillation potentials and short duration MUP predict pathologic changes of muscle fiber necrosis, splitting, and/or vacuolar changes (as seen with inflammatory myopathies and muscular dystrophies). Absence of fibrillation potentials suggests other myopathologic changes (e.g. congenital myopathy). This article is protected by copyright. All rights reserved.
  • Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. [Journal Article]
  • NeurNeurology 2018 Nov 09
  • Zagaglia S, Selch C, … Sisodiya SM
  • CONCLUSIONS: COL4A1/COL4A2 mutations typically cause a severe neurologic condition and a broader spectrum of milder phenotypes, in which epilepsy is the predominant feature. Early identification of patients carrying COL4A1/COL4A2 mutations may have important clinical consequences, while for research efforts, omission from large-scale epilepsy sequencing studies of individuals with abnormalities on brain MRI may generate misleading estimates of the genetic contribution to the epilepsies overall.
  • A Nationwide Survey on Danon Disease in Japan. [Journal Article]
  • IJInt J Mol Sci 2018 Nov 08; 19(11)
  • Sugie K, Komaki H, … Nishino I
  • Danon disease, an X-linked dominant cardioskeletal myopathy, is caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). To clarify the clinicopathological features and manage...
  • [Minimally invasive dorsal decompression-stabilization surgery in patients with overweight and obesity]. [Journal Article]
  • ZVZh Vopr Neirokhir Im N N Burdenko 2018; 82(5):69-80
  • Byval'tsev VA, Kalinin AA
  • CONCLUSIONS: The original technique of minimally invasive rigid stabilization is safe and highly effective in surgical treatment of degenerative lumbar spine diseases in patients with overweight and obesity. MIS-TLIF has a number of significant advantages over O-TLIF in the dynamics of clinical parameters and a low number of perioperative complications, which is confirmed by smaller injury to paravertebral tissues and a better performance status in the long-term postoperative period.
  • Hypothyroidism induced by phenytoin and gabapentin: A Case Report. [Journal Article]
  • MMedicine (Baltimore) 2018; 97(43):e12938
  • Miyake Z, Ishii K, Tamaoka A
  • CONCLUSIONS: In this case, the patient's hypothyroidism was assumed to result from different mechanisms of the 2 AEDs leading to thyroid hormone reduction. AEDs can not only cause asymptomatic thyroid hormone abnormalities but also clinically observable hypothyroidism. Therefore, clinicians should be aware of the association between anticonvulsants and symptomatic hypothyroidism.
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