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Total 174 results found since Jan 2013.

Higher incidence of vasodilator-induced left ventricular cavity dilation by PET when compared to treadmill exercise-ECHO in hypertrophic cardiomyopathy
ConclusionPET-LVCD reflects greater degree of myopathy and microvascular dysfunction in HCM. Differences in the cardiac effects of exercise and vasodilators and timing of stress-image acquisition could underlie discordance in ischemic EKG changes and LVCD by ECHO and PET, in HCM.
Source: Journal of Nuclear Cardiology - November 19, 2018 Category: Nuclear Medicine Source Type: research

Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations.
Conclusions: Noninvasive genetic screening is recommended for mtDNA mutations in MT-NDs and MT-ATP6 genes in patients with ophthalmoplegia, muscle weakness, ataxia, and respiratory disorder. Furthermore, the lactate detection in CSF and the brain MRI scanning are suggested as the diagnosis methods for LS patients with mtDNA mutations. PMID: 30425197 [PubMed - in process]
Source: Chinese Medical Journal - November 15, 2018 Category: General Medicine Authors: Yu XL, Yan CZ, Ji KQ, Lin PF, Xu XB, Dai TJ, Li W, Zhao YY Tags: Chin Med J (Engl) Source Type: research

Diagnosing polymyalgia rheumatica on 18 F-FDG PET/CT: typical uptake patterns
Conclusion18F-FDG uptake distribution patterns and morphology can contribute to the diagnosis of PMR. Significant18F-FDG uptake in the sternoclavicular joints is one of the characteristic findings in patients with PMR as well as the uptake in the shoulders, ischial tuberosities, and greater trochanters. “Y”-shaped spinous process uptake may be one of the specific findings for PMR.
Source: Annals of Nuclear Medicine - October 1, 2018 Category: Nuclear Medicine Source Type: research

Performance of an Automated Versus a Manual Whole-Body Magnetic Resonance Imaging Workflow
Objectives The aim of this study was to evaluate the performance of an automated workflow for whole-body magnetic resonance imaging (WB-MRI), which reduces user interaction compared with the manual WB-MRI workflow. Materials and Methods This prospective study was approved by the local ethics committee. Twenty patients underwent WB-MRI for myopathy evaluation on a 3 T MRI scanner. Ten patients (7 women; age, 52 ± 13 years; body weight, 69.9 ± 13.3 kg; height, 173 ± 9.3 cm; body mass index, 23.2 ± 3.0) were examined with a prototypical automated WB-MRI workflow, which automatically segments the whole body, and 10 pa...
Source: Investigative Radiology - July 4, 2018 Category: Radiology Tags: Original Articles Source Type: research

Diagnosing polymyalgia rheumatica on 18 F-FDG PET/CT: typical uptake patterns
Conclusion18F-FDG uptake distribution patterns and morphology can contribute to the diagnosis of PMR. Significant18F-FDG uptake in the sternoclavicular joints is one of the characteristic findings in patients with PMR as well as the uptake in the shoulders, ischial tuberosities, and greater trochanters. “Y”-shaped spinous process uptake may be one of the specific findings for PMR.
Source: Annals of Nuclear Medicine - June 8, 2018 Category: Nuclear Medicine Source Type: research

18FFluorodeoxyglucose positron emission tomography/computed tomography for diagnosing polymyositis/dermatomyositis.
Authors: Sun L, Dong Y, Zhang N, Lv X, Chen Q, Wei W Abstract [18F]fluorodeoxyglucose positron emission tomography/computed tomography ([18F]FDG-PET/CT) is useful for diagnosing cancers and inflammatory diseases. A polymyositis/dermatomyositis (PM/DM) lesion is an inflammatory heterogeneous disease of the striated muscle. In the present study, the maximum standardized uptake value (SUVmax) was compared between 22 cases with definite or probable PM/DM (PM/DM group) that underwent [18F]FDG-PET/CT examination and the same number of patients with no myopathy. The average proximal muscle FDG uptake value (SUVaverage) fo...
Source: Experimental and Therapeutic Medicine - May 30, 2018 Category: General Medicine Tags: Exp Ther Med Source Type: research

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
AbstractSeveral genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochromec oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations inCOA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT. We also found that all four patients had characteristic neurological features of peripheral neuropathy and atax...
Source: Brain - April 27, 2018 Category: Neurology Source Type: research

Cover Image
The cover image, by C. Hedberg‐Oldfors et al., is based on the Original Article Polyglucosan myopathy and functional characterization of a novel GYG1 mutation, DOI: 10.1111/ane.12865.
Source: Acta Neurologica Scandinavica - February 1, 2018 Category: Neurology Authors: C. Hedberg ‐Oldfors, A. Mensch, K. Visuttijai, G. Stoltenburg, D. Stoevesandt, T. Kraya, A. Oldfors, S. Zierz Tags: COVER IMAGE Source Type: research

A case of refractory acute sarcoid myopathy successfully treated with intravenous immunoglobulin.
PMID: 29376470 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Rheumatology - January 29, 2018 Category: Rheumatology Authors: Kono M, Kono M, Jodo S Tags: Scand J Rheumatol Source Type: research

New features for scanned bioelectrical activity of motor unit in health and disease
Publication date: March 2018 Source:Biomedical Signal Processing and Control, Volume 41 Author(s): N. Tuğrul Artuğ, Imran Goker, Bülent Bolat, Onur Osman, Elif Kocasoy Orhan, M. Baris Baslo The present study aims to find new features that support the differential diagnosis of neuromuscular diseases. Scanning EMG is an experimental method developed for understanding the motor unit organization and for observing temporal and spatial characteristics of motor unit’s electrical activity. A motor unit consists of a motor neuron and muscle fibers that are innervated by its motor neuron. Both simulation and biological data o...
Source: Biomedical Signal Processing and Control - December 13, 2017 Category: Biomedical Science Source Type: research

Development and validation of an ultrahigh performance liquid chromatography ‐high resolution tandem mass spectrometry quantification method for hypoglycin A and methylene cyclopropyl acetic acid carnitine in horse serum in cases of atypical myopathy
Abstract Atypical myopathy (AM) is a fatal disease in horses presumably caused by hypoglycine A (HGA) from ingested maple seeds and its active metabolite methylene cyclopropyl acetic acid (MCPA). The aim of this study was the development and validation of a rapid and simple assay for HGA and MCPA‐carnitine in horse serum and its application to authentic samples. Identification and quantification were carried out by ultra high performance liquid chromatography–high resolution tandem mass spectrometry (UHPLC–HRMS/MS) with full‐scan/data‐dependent MS/MS. Chromatographic separation was performed by isocratic elution ...
Source: Drug Testing and Analysis - December 12, 2017 Category: Drugs & Pharmacology Authors: Wiebke Rudolph, Daniela Remane, Dirk K. Wissenbach, Carmen Klein, Dirk Barnewitz, Frank T. Peters Tags: RESEARCH ARTICLE Source Type: research

Quantitative 3D scintigraphy shows increased muscular uptake of pyrophosphate in idiopathic inflammatory myopathy
ConclusionsThe muscular uptake of99mTc-PYP was significantly higher in patients than in healthy controls by qualitative and quantitative assessment. The tracer uptake was higher in the proximal than in the distal part of the thigh muscle, and SUVmean gradients differed between groups. Hence, tomographic nuclear imaging allowing for quantification of the99mTc-PYP uptake might contribute to the diagnosis of IIM, and SPECT/CT of the lower body might suffice.
Source: EJNMMI Research - December 8, 2017 Category: Radiology Source Type: research

Extensive interstitial lung disease in inflammatory myopathy is a strong predictor of mortality
The objective of this study was to identify clinical predictors of mortality in a prospective cohort of subjects with IIM.Subjects were from the Canadian Inflammatory Myopathy Study group, a multicenter, prospective cohort of incident IIM. Clinical data, lung function were obtained per study protocol. Computed tomography scans (CT) of the chest done for clinical indications were reviewed by a respirologist for presence of ILD. Total lung involvement was estimated to the nearest 5%. Kaplan-Meier was used to identify survival differences between groups with and without ILD. Cox proportional hazard model identified predictors...
Source: European Respiratory Journal - December 6, 2017 Category: Respiratory Medicine Authors: Assayag, D., Hirsch, A., Baron, M., Vinet, E., Albert, A., Fortin, P., Hudson, M. Tags: Diffuse Parenchymal Lung Disease Source Type: research

Polyglucosan myopathy and functional characterization of a novel GYG1 mutation
ConclusionWe present functional evidence for the pathogenicity of a novel GYG1 missense mutation located in the substrate binding domain. Our results also demonstrate that glycogenin‐1 deficiency may present with highly variable distribution of weakness and wasting also in the same family.
Source: Acta Neurologica Scandinavica - November 16, 2017 Category: Neurology Authors: C. Hedberg ‐Oldfors, A. Mensch, K. Visuttijai, G. Stoltenburg, D. Stoevesandt, T. Kraya, A. Oldfors, S. Zierz Tags: ORIGINAL ARTICLE Source Type: research

Late ‐onset Pompe's disease in a hemodialysis patient: A first case report
Abstract A 37‐year‐old hemodialysis patient appeared with unusual somnolence during 2 successive hemodialysis sessions. Blood gas analysis revealed hypercapnic respiratory failure and spirometry restrictive lung disease. After exclusion of other causes of restrictive lung disease with chest CT‐scan and cerebrum MRI, electrophysiological study revealed myopathy. Because besides lordosis and limb‐girdle gait the patient was ambulant the possibility of late‐onset Pompe's disease was set and confirmed with evaluation of α‐glucosidase activity and genetic analysis. Enzyme replacement therapy (ERT) with aglucosidase...
Source: Hemodialysis International - October 3, 2017 Category: Hematology Authors: Theodoros Eleftheriadis, Panagiota Makri, Paschalia Karakosta, Georgios Pissas, Vassilios Liakopoulos, Helen Michelakakis, Georgios M. Hadjigeorgiou, Ioannis Stefanidis Tags: Case Report Source Type: research