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Total 174 results found since Jan 2013.

G.P.71: Inflammatory myopathy associated with anti-MDA5 antibodies: A new entity?
The anti-MDA5 auto-antibody (Ab) is specifically associated with a subgroup of dermatomyositis patients. Patients suffer from mainly extramuscular involvement (lung and skin) whereas clinical signs of myopathy are rather mild or absent. Although extra muscular lesions are well described, there are no reports about the affection of the muscle in terms of morphology and immunology. To describe the histological pattern of the skeletal muscle and the intrinsic immune response. Immunohistochemical analysis and molecular testing of a comprehensive panel of mediators involved in the immune response were performed by quantitative ...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: Y. Allenbach, G. Leroux, A. Rigolet, B. Hervier, T. Maisonobe, F.J. Authier, J. Aouizerate, N. Limal, A. Meyer, P. Hufnagl, N. Zerbe, C. Preusse, K. Mariampillai, S. Herson, O. Benveniste, W. Stenzel Source Type: research

G.P.72: Necrotizing auto-immune Myopathies: New myopathological aspects
Among acquired idiopathic inflammatory myopathies necrotizing auto-immune myopathy (NAM) has been recognized as distinct based on morphological features. Anti-SRP and antiHMCR antibody (Ab) are specifically associated with NAM. Data concerning histological features are sparse. We aim to describe the histological pattern of the muscle of a large series (N=44) of NAM-seropositive patients. Fiber necrosis and regeneration were defined based on specific histological features. For immohistochemical analysis, a semi-quantitative score (0–5) was used for MHC-I (e.g. 0: no overt expression, 2: focal over-expression more than 50%...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: Y. Allenbach, A. Rigolet, T. Stojkovic, A. Behin, B. Eymard, P. Laforet, K. Mariampillai, N. Zerbe, P. Hufnagl, C. Preusse, T. Maisonobe, S. Herson, H.H. Goebel, O. Benveniste, W. Stenzel Source Type: research

Successful open abdomen treatment for multiple ischemic duodenal perforated ulcers in dermatomyositis
Conclusions: In patients with dermatomyositis, when clinical findings and symptoms suggest abdominal vasculitis, it is very important to be aware of the risk of bowel and particularly duodenal perforations. Open abdomen treatment favors control of contamination by gastrointestinal contents, offers temporary abdominal closure, helps ICU care and delays definitive surgery.
Source: World Journal of Emergency Surgery - August 30, 2014 Category: Emergency Medicine Authors: Roberta VillaStefano CostaSibilla FocchiCarlo CorbelliniMassimo VigorelliEttore Contessini Avesani Source Type: research

Muscle MRI and histopathology in ACTA1‐related congenital nemaline myopathy
Conclusions: We highlight the contribution of muscle imaging in addressing the genetic diagnosis of ACTA1‐related NM. Analysis of the degree and pattern of muscle involvement in ACTA1‐related NM of the entire body, including the tongue and pectoral muscles is described. © 2014 Wiley Periodicals, Inc.
Source: Muscle and Nerve - August 1, 2014 Category: Internal Medicine Authors: Claudia Castiglioni, Denis Cassandrini, Fabiana Fattori, Emanuele Bellacchio, Adele D’Amico, Karin Alvarez, Roger Gejman, Jorge Diaz, Filippo M. Santorelli, Norma B. Romero, Enrico Bertini, Jorge A. Bevilacqua Tags: Case of the Month Source Type: research

Combining MRI and muscle biopsy improves diagnostic accuracy in subacute‐onset idiopathic inflammatory myopathy
Conclusion: We recommend both MRI and muscle biopsy in patients suspected of having IIM. © 2014 Wiley Periodicals, Inc.
Source: Muscle and Nerve - June 3, 2014 Category: Internal Medicine Authors: Janneke Vlekkert, Mario Maas, Jessica E. Hoogendijk, Marianne Visser, Ivo N. Schaik Tags: Research Article Source Type: research

Ovarian reserve in adult patients with childhood-onset lupus: a possible deleterious effect of methotrexate?
Conclusions: The present study demonstrated for the first time that a high cumulative methotrexate dose is a possible cause of subclinical ovarian dysfunction in adult c-SLE patients. Further studies are required to confirm this deleterious effect in other rheumatic diseases, particularly juvenile idiopathic arthritis and idiopathic inflammatory myopathy. PMID: 24881927 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Rheumatology - June 2, 2014 Category: Rheumatology Authors: de Araujo D, Yamakami L, Aikawa N, Bonfá E, Viana V, Pasoto S, Pereira R, Serafin P, Borba E, Silva C Tags: Scand J Rheumatol Source Type: research

Myopathy is a poor prognostic feature in systemic sclerosis: results from the Canadian Scleroderma Research Group (CSRG) cohort.
Conclusions: Muscle involvement in SSc has a poor prognosis impacting survival, especially in men with early dcSSc with topo1 and RNP autoantibodies and interstitial lung disease (ILD). PMID: 24650305 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Rheumatology - March 21, 2014 Category: Rheumatology Authors: Jung M, Bonner A, Hudson M, Baron M, Pope J, On Behalf Of The Canadian Scleroderma Research Group Csrg Tags: Scand J Rheumatol Source Type: research

Rhabdomyolysis associated with initiation of febuxostat therapy for hyperuricaemia in a patient with chronic kidney disease
This report is first case of rhabdomyolysis associated with initiation of febuxostat. Febuxostat should be withdrawn when rhabdomyolysis is confirmed. This report is first case of rhabdomyolysis associated with initiation of febuxostat. Febuxostat should be withdrawn when rhabdomyolysis is confirmed.
Source: Journal of Clinical Pharmacy and Therapeutics - March 11, 2014 Category: Drugs & Pharmacology Authors: Y. Kang, M. J. Kim, H. N. Jang, E. J. Bae, S. Yun, H. S. Cho, S.‐H. Chang, D. J. Park Tags: Case Report Source Type: research

Dilative vasculopathy and cerebral haemorrhage as a presentation of late-onset pompe disease
Conclusion Vasculopathy is an under recognised complication of Pompe disease. The subsequent intracerebral and subarachnoidal heamorrhages can be the presenting feature leading to diagnosis of Pompe disease, despite symptoms of the disease often being present for a number of years previously. With the advent of enzyme replacement which has revolutionised treatment, particularly in paediatric populations, it is important to diagnose this disorder early. Dry blood spot analysis for acid maltase enzyme activity provides a low cost way of screening for Pompe disease which should be considered in any adult patient presenting wi...
Source: Journal of Neurology, Neurosurgery and Psychiatry - October 9, 2013 Category: Neurosurgery Authors: Lilleker, J., Roberts, M., Boothman, B. Tags: Genetics, Muscle disease, Neuromuscular disease, Radiology, Musculoskeletal syndromes, Surgical diagnostic tests Association of British Neurologists (ABN) joint meeting with the Royal College of Physicians (RCP), London, 23-24 October 2013 Source Type: research

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 16, 2013 Category: Neurology Authors: M. de Visser, J. van de Vlekkert, M. Maas, J.E. Hoogendijk, I.N. Schaik Source Type: research

P.21.7 Rippling muscle disease associated with myasthenia gravis: A case report
We present a case of a man (66y.) hospitalized two years ago in the Medical University of Warsaw, Department of Neurology with muscle stiffness, pain, cramps and involuntary muscle rolling contraction provoked by mechanical stimuli. Fifteen years ago he experienced a 3months-long period of diplopia and ptosis. At that time MG was excluded on the basis of normal repetitive stimulation nerve (RNS) tests, SFEMG and normal chest CT scan. Acetylocholine receptor autoantibody (AChRAb) was not tested at that time. Cerebral arteries and brain stem pathology were excluded.Muscle symptoms which were the reason of the hospitalization...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: A. Lusakowska, M. Gawel, A.M. Kaminska Source Type: research

O.23 A novel desmin mutation causes autosomal recessive limb girdle muscular dystrophy without features of myofibrillar myopathy
This study expands the spectrum of phenotypes associated with DES mutations and identifies a novel LGMD2 subtype.
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: N. Cetin, B. Balci-Hayta, H. Gundesli, P. Korkusuz, N. Purali, B. Talim, E. Tan, D. Selcen, S. Erdem-Ozdamar, P. Dincer 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 16, 2013 Category: Neurology Authors: L. ten Dam, A.J. van der Kooi, F. Rövekamp, W.H. Linssen, M. de Visser Source Type: research

O.23 A novel desmin mutation causes autosomal recessive limb girdle muscular dystrophy without features of myofibrillar myopathy
This study expands the spectrum of phenotypes associated with DES mutations and identifies a novel LGMD2 subtype.
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: N. Cetin, B. Balci-Hayta, H. Gundesli, P. Korkusuz, N. Purali, B. Talim, E. Tan, D. Selcen, S. Erdem-Ozdamar, P. Dincer Source Type: research

P.21.7 Rippling muscle disease associated with myasthenia gravis: A case report
We present a case of a man (66y.) hospitalized two years ago in the Medical University of Warsaw, Department of Neurology with muscle stiffness, pain, cramps and involuntary muscle rolling contraction provoked by mechanical stimuli. Fifteen years ago he experienced a 3months-long period of diplopia and ptosis. At that time MG was excluded on the basis of normal repetitive stimulation nerve (RNS) tests, SFEMG and normal chest CT scan. Acetylocholine receptor autoantibody (AChRAb) was not tested at that time. Cerebral arteries and brain stem pathology were excluded.Muscle symptoms which were the reason of the hospitalization...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: A. Lusakowska, M. Gawel, A.M. Kaminska Source Type: research