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Total 174 results found since Jan 2013.

P.21.4 Combining MRI and muscle biopsy improves diagnostic accuracy in subacute-onset idiopathic inflammatory myopathy
In approximately 10–20% of patients suffering from subacute-onset idiopathic inflammatory myopathy (IIM) muscle biopsy is normal or shows non-specific findings. MRI can be used as triage test prior to a muscle biopsy and as add-on test if a muscle biopsy has proven to be non-diagnostic.A prospective study was performed on forty-eight consecutive patients with subacute-onset IIM of whom MRI scans of the skeletal muscles and muscle biopsies were systematically evaluated. The results of MRI, muscle biopsy findings and definite diagnosis including response to treatment which was considered the gold standard were collected an...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: M. de Visser, J. van de Vlekkert, M. Maas, J.E. Hoogendijk, I.N. Schaik Source Type: research

P.5.2 A comparison of muscle imaging in DYSF and ANO5 related muscular dystrophies
In this descriptive retrospective and cross-sectional study we compared muscle images of patients with Miyoshi distal myopathy phenotype (MMD1 and MMD3) to limb girdle muscular dystrophy 2L (LGMD2L) patients. MMD1 and MMD3 are genetically heterogenous diseases based on DYSF and ANO5 gene defects. MMD3 and LGMD2L are clinically different diseases caused by an ANO5 gene defect. A total of 35 muscle imaging studies of MMD1, MMD3 and LGMD2L patients was evaluated for fatty degeneration, muscle hypertrophy or atrophy and asymmetric muscle involvement.Eight muscle imaging scans of six MMD1 patients, 11 scans of nine MMD3 patient...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: L. ten Dam, A.J. van der Kooi, F. Rövekamp, W.H. Linssen, M. de Visser Source Type: research

Metabolic Consequences of Adipose Trigliceride Lipase Deficiency in Humans: An In Vivo Study in Patients with Neutral Lipid Storage Disease with Myopathy.
Conclusions.In humans ATGL has a remarkable effect on cellular lipid droplets handling and its lack causes both peri-visceral, skeletal muscle and pancreas fat accumulation; in contrast, the impact on whole body insulin sensitivity and fatty acid metabolism is minor. PMID: 23824421 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - July 3, 2013 Category: Endocrinology Authors: Natali A, Gastaldelli A, Camastra S, Baldi S, Quagliarini F, Minicocci I, Bruno C, Pennisi E, Arca M Tags: J Clin Endocrinol Metab Source Type: research

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies
Conclusions Our study reveals that autosomal recessive mutations in DES cause LGMD2 phenotype without features of myofibrillar myopathy.
Source: Journal of Medical Genetics - June 11, 2013 Category: Genetics & Stem Cells Authors: Cetin, N., Balci-Hayta, B., Gundesli, H., Korkusuz, P., Purali, N., Talim, B., Tan, E., Selcen, D., Erdem-Ozdamar, S., Dincer, P. Tags: Genetic screening / counselling, Immunology (including allergy), Muscle disease, Neuromuscular disease, Clinical diagnostic tests New loci Source Type: research

Adult osteomalacia: A treatable cause of "fear of falling" gait
A 65-year-old man was hospitalized with a gait disorder, obliging him to shuffle laterally1 (video on the Neurology® Web site at www.neurology.org) because of pain and proximal limb weakness. He had a gastrectomy for cancer 7 years previously, with severe vitamin D deficiency; parathormone and alkaline phosphatase were increased, with reduced serum and urine calcium and phosphate. There was reduced bone density (figure). He was mildly hypothyroid and pancytopenic. B12 and folate levels were normal. Investigation for an endocrine neoplasm (CT scan, Octreoscan) was negative. EMG of proximal muscles was typical for chroni...
Source: Neurology - May 27, 2013 Category: Neurology Authors: Ripellino, P., Terazzi, E., Bersano, E., Cantello, R. Tags: Endocrine, Gastrointestinal, Gait disorders/ataxia, Muscle disease, All Neuropsychology/Behavior VIDEO NEUROIMAGES Source Type: research

Steroid-Sparing Effect of Corticorelin Acetate in Peritumoral Cerebral Edema Is Associated With Improvement in Steroid-Induced Myopathy
In this randomized, placebo-controlled, double-blind study of patients with brain tumors who were being treated with dexamethasone for peritumoral brain edema, corticorelin acetate tended to reduce the...
Source: OncologySTAT Journal Scans - February 20, 2013 Category: Cancer & Oncology Source Type: research

A Broad Phenotype Related to a New POLG1 Mutation (P01.121)
CONCLUSIONS: We described a new POLG mutation (A143V). This mutation seems to show a broad phenotype ranging from intractable epilepsy to cachectic myopathy. Face to uncommon condition affecting both central and peripheral nervous system, the clinician should evoke POLG spectrum disorders.Disclosure: Dr. Chrestian has nothing to disclose. Dr. Dupre has nothing to disclose.
Source: Neurology - February 14, 2013 Category: Neurology Authors: Chrestian, N., Dupre, N. Tags: P01 Muscle Disease: Other Source Type: research

No effect of combined coenzyme Q10 and selenium supplementation on atorvastatin-induced myopathy
Scandinavian Cardiovascular Journal, Volume 0, Issue 0, Page 1-8, Early Online.
Source: Scandinavian Cardiovascular Journal - January 11, 2013 Category: Cardiology Tags: article Source Type: research

The lung is involved in juvenile dermatomyositis
ConclusionThe frequency of lung involvement in children with JDM justifies systematic respiratory assessment with PFT including measures of respiratory muscle strength. We suggest that a chest HRCT scan is indicated in cases of respiratory symptoms and/or PFT abnormalities. Longitudinal studies are needed to assess pediatric characteristics, long‐term outcomes, and responses to treatment taking into account the risk–benefit ratio. Pediatr Pulmonol. © 2012 Wiley Periodicals, Inc.
Source: Pediatric Pulmonology - December 31, 2012 Category: Respiratory Medicine Authors: Guillaume Pouessel, Antoine Deschildre, Muriel Le Bourgeois, Jean‐Marie Cuisset, Benoit Catteau, Chantal Karila, Véronique Nève, Caroline Thumerelle, Pierre Quartier, Isabelle Tillie‐Leblond Tags: Original Article: Other Source Type: research