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Total 174 results found since Jan 2013.

Search for Pompe disease among patients with undetermined myopathies
ConclusionsThe prevalence of Pompe disease in western Sweden (3 in 1.27 million or 0.24 per 100.000 inhabitants) is lower than in the Netherlands and New York. Re‐evaluation of patients with myopathies but without definite diagnosis is rewarding since 12 of 82 patients in our study had a definite molecular diagnosis after workup.
Source: Acta Neurologica Scandinavica - July 20, 2015 Category: Neurology Authors: C. Lindberg, B. Anderson, M. Engvall, M. Hult, A. Oldfors Tags: Original Article Source Type: research

Use of dual-energy computed tomography for the evaluation of calcinosis in patients with systemic sclerosis
We examined the usefulness of dual-energy computed tomography (DECT) in the evaluation of symptomatic systemic sclerosis (SSc)-related calcinosis of the hands. We performed DECT scan of the hands in 16 patients with symptomatic SSc-calcinosis to better characterize the calcinosis, their locations within the soft tissues, and exclude monosodium urate (MSU) crystal deposition. We also compared their computed tomography (CT) images to plain radiographs of one hand. Pertinent clinical information from this cohort was collected. Sixteen SSc patients underwent DECT and plain X-ray imaging of the hands. Five of the 16 SSc patient...
Source: Clinical Rheumatology - July 3, 2015 Category: Rheumatology Source Type: research

Disruption of the salivary gland muscle in tsetse, Glossina pallidipes Austen, as a result of salivary gland hypertrophy virus infection
Abstract The secretory region of the salivary glands in Glossina pallidipes Austen (Diptera: Glossinidae) is characterized by an external muscle layer. Scanning electron microscopy and transmission electron microscopy investigations provide a detailed description of the longitudinal muscle fibres and a comparison of their structure when affected by salivary gland hypertrophy virus. The virus is responsible for hypertrophy of the salivary glands in symptomatic flies, specifically of the muscle fibres, the cytoarchitecture of which is completely altered. Although observations did not reveal viral particles in the muscle cell...
Source: Medical and Veterinary Entomology - June 1, 2015 Category: Veterinary Research Authors: L. GUERRA, J. G. STOFFOLANO, M. C. BELARDINELLI, G. GAMBELLINI, A. R. TADDEI, V. LAGHEZZA MASCI, A. M. FAUSTO Tags: Original Article Source Type: research

Lung MRI and impairment of diaphragmatic function in Pompe disease
Background: Pompe disease is a progressive metabolic myopathy. Involvement of respiratory muscles leads to progressive pulmonary dysfunction, particularly in supine position. Diaphragmatic weakness is considered to be the most important component. Standard spirometry is to some extent indicative but provides too little insight into diaphragmatic dynamics. We used lung MRI to study diaphragmatic and chest-wall movements in Pompe disease. Methods: In ten adult Pompe patients and six volunteers, we acquired two static spirometer-controlled MRI scans during maximum inspiration and expiration. Images were manually segmented. Af...
Source: BMC Pulmonary Medicine - May 6, 2015 Category: Respiratory Medicine Authors: Stephan WensPierluigi CietAdria Perez-RoviraKarla LogieElizabeth SalamonPiotr WielopolskiMarleen de BruijneMichelle KruijshaarHarm TiddensPieter van DoornAns van der Ploeg Source Type: research

Dermatomyositis in a Patient with Cholangiocarcinoma Detected by an 18F-Fluorodeoxyglucose ...
We report a 66-year-old woman with metastatic cholangiocarcinoma, initially presented with bilateral proximal muscle uptake on PET-CT without clinical muscle symptoms. The initial interpretation of the high muscle uptake was metastasis to the muscles. However, while awaiting for chemotherapy, muscle weakness evolved and rapidly progressed. The level of creatine phosphokinase was significantly elevated. Electromyography revealed moderate myopathy, and a muscle biopsy showed degenerating myofibers with variable sizes. The diagnosis of paraneoplastic dermatomyositis was made. This case highlights that, although rare, paraneop...
Source: Cancer Research and Treatment - March 17, 2015 Category: Cancer & Oncology Tags: Case Report Source Type: research

Clinicopathological features of sarcoidosis manifesting as generalized chronic myopathy
Abstract Although chronic myopathy has been reported to affect skeletal muscle in sarcoidosis, its clinicopathological features have not been fully elucidated. We characterized the clinical, histopathological, and prognostic features of eleven patients with sarcoidosis manifesting with chronically progressive, generalized myopathy that was confirmed with muscle biopsy. Generalized muscle weakness extending to the four extremities and trunk was the cardinal feature of these cases. Muscle atrophy was evident in nine patients, particularly in the lower limbs, whereas myalgia was reported in only two patients. Myopath...
Source: Journal of Neurology - February 26, 2015 Category: Neurology Source Type: research

"Mechanic's hands" during antisynthetase syndrome: A marker of systemic involvement?
CONCLUSION: Mechanic's hands may be considered a marker of visceral involvement and should be sought in any instance of suspected antisynthetase syndrome flare-up. PMID: 25620556 [PubMed - as supplied by publisher]
Source: Annales de Dermatologie et de Cenereologie - January 22, 2015 Category: Dermatology Authors: Nahas O, Haddad F, Maalouly G Tags: Ann Dermatol Venereol Source Type: research

What's in the Literature?
AbstractIn this issue, we review reports of a congenital myasthenic syndrome with agrin mutations, a distal myopathy phenotype, and presynaptic neurophysiology. Regarding myasthenia gravis, we address articles on health-related quality of life and therapeutic goals, the risk of osteoporosis, and thymic pathology and the possible role of positron emission tomography in detecting active metabolism when planning thymectomy. Topics covered in amyotrophic sclerosis include an increased risk of executive dysfunction in women, diagnostic delay, biomarkers including neurofilament and creatinine, and magnetic resonance imaging (gra...
Source: Journal of Clinical Neuromuscular Disease - December 1, 2014 Category: Neurology Tags: Literature Review Source Type: research

What's in the Literature?.
In this issue, we review reports of a congenital myasthenic syndrome with agrin mutations, a distal myopathy phenotype, and presynaptic neurophysiology. Regarding myasthenia gravis, we address articles on health-related quality of life and therapeutic goals, the risk of osteoporosis, and thymic pathology and the possible role of positron emission tomography in detecting active metabolism when planning thymectomy. Topics covered in amyotrophic sclerosis include an increased risk of executive dysfunction in women, diagnostic delay, biomarkers including neurofilament and creatinine, and magnetic resonance imaging (gray and wh...
Source: Journal of Clinical Neuromuscular Disease - November 22, 2014 Category: Neurology Tags: Literature Review: PDF Only Source Type: research

A case of congenital myopathy masquerading as paroxysmal dyskinesia
Harsh Patel, Biswaroop Chakrabarty, Sheffali Gulati, Mehar C Sharma, Lokesh SainiAnnals of Indian Academy of Neurology 2014 17(4):441-443Gastroesophageal reflux (GER) disease is a significant comorbidity of neuromuscular disorders. It may present as paroxysmal dyskinesia, an entity known as Sandifer syndrome. A 6-week-old neonate presented with very frequent paroxysms of generalized stiffening and opisthotonic posture since day 22 of life. These were initially diagnosed as seizures and he was started on multiple antiepileptics which did not show any response. After a normal video electroencephalogram (VEEG) was documented,...
Source: Annals of Indian Academy of Neurology - November 5, 2014 Category: Neurology Authors: Harsh PatelBiswaroop ChakrabartySheffali GulatiMehar C SharmaLokesh Saini Source Type: research

Muscle magnetic resonance imaging 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. Muscle Nerve, 2014
Source: Muscle and Nerve - October 30, 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

The Effects of Statin Medications on Aerobic Exercise Capacity and Training Adaptations
Abstract The incidence of myopathy increases dramatically in statin users who also exercise, likely limiting the positive impact of this lifesaving medication. New evidence also indicates that statin use can directly compromise aerobic exercise capacity; however, we are just beginning to understand the interactions of statins with exercise training and adaptations. This review focuses on the interactions of statins with aerobic exercise capacity and training adaptations to summarize the available information and draw attention to the gaps in our current knowledge in this area. PubMed, Web of knowledge, and Google...
Source: Sports Medicine - October 24, 2014 Category: Sports Medicine Source Type: research

Moving to connective tissue disease
We present an approach to the neurological presentations of CTD and reveal possible manifestations and important treatment considerations.
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Singh, A., Sivagnanasundaram, J., Doshi, A., Kock, N. Tags: Abstracts Source Type: research

G.P.267: Nebulin-associated myopathy: New genetic and pathologic presentations
This study represents the disease associated with novel NEB mutations marked by the presence of additional pathological features, as well as nemaline rods. Although mixed pathology has been already reported in core-rod myopathy with NEB mutations, muscle pathology in these patients is more characteristic, and clinical manifestation is much milder compared with the previous ones. This report suggests the expanded clinical and pathological spectrum of nebulin-associated myopathy with new genetic and pathologic features. Further, next genome sequencing might be helpful for searching mutations in big, huge-sized genes, such as NEB.
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: Y.E. Park, S.H. Park, J.M. Lee, J.H. Shin, B.R. Kang, C.H. Lee, D.S. Kim Source Type: research