Exercise efficiency impairment in metabolic myopathies

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Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

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The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies

International audienceMetabolic myopathies comprise a diverse group of inborn errors of intermediary metabolism affecting skeletal muscle, and often present clinically as an inability to perform normal exercise. Our aim was to use the maximal mechanical performances achieved during two functional tests, isometric handgrip test and cycloergometer, to identify metabolic myopathies among patients consulting for exercise-induced myalgia. Eighty-three patients with exercise-induced myalgia and intolerance were evaluated, with twenty-three of them having a metabolic myopathy (McArdle, n = 9; complete myoadenylate deaminase deficiency, n = 10; respiratory chain deficiency, n = 4) and sixty patients with non-metabolic myalgia. In all patients, maximal power (MP) was determined during a progressive exercise test on a cycloergometer and maximal voluntary contraction force (MVC) was assessed using a handgrip dynamometer. The ratio between percent-predicted values for MVC and MP was calculated for each subject (MVC%pred:MP%pred ratio). In patients with metabolic myopathy, the MVC%pred:MP%pred ratio was significantly higher compared to non-metabolic myalgia (1.54 ± 0.62 vs. 0.92 ± 0.25; p < 0.0001). ROC analysis of MVC%pred:MP%pred ratio showed AUC of 0.843 (0.758-0.927, 95% CI) for differentiating metabolic myopathies against non-metabolic myalgia. The optimum cutoff was taken as 1.30 (se = 69.6%, sp = 96.7%), with a corresponding diagnostic odd ratio of 66.3 (12.5-350.7, 95% CI). For a pretest probability of 15% in our tertiary reference center, the posttest probability for metabolic myopathy is 78.6% when MVC%pred:MP%pred ratio is above 1.3. In conclusion, the MVC%pred:MP%pred ratio is appropriate as a screening test to distinguish metabolic myopathies from non-metabolic myalgia

Telemonitoring of patients at home: a software agent approach.

International audienceTo address the issue of the increasing social, economical and medical needs of maintaining at home people in loss of autonomy while preserving privacy and quality of life, the authors present a software agent based telemonitoring and alarm raising system. The article describes the overall architecture, the various components of the model, and the methodology that has been used. It specifically addresses the issue of reflecting in the object oriented model of the system various dimensions including: the physical world of in-home bio-signal sensors, the numerical world of software agents and Internet-related technologies, and the medical and social worlds of patients, physicians and caregivers. In the model, the main stream of information goes from the biophysical world of patients at home to the socio-medical world of carers through a chain of devices including in-home sensors, local area network, home computer, remote server, and carers' computers. Each device hosts software agents with different levels of knowledge and complexity. Internet and Java technologies provide the building blocks of the designed telemonitoring software. Laboratory experiments have been realized using a fully equipped 'smart' demonstration home for telecare. The study takes place into a more general research project on 'smart' homes for telecare conducted at the Hospital Centre of Grenoble, France

Genotype–phenotype correlation in French patients with myelin protein zero gene‐related inherited neuropathy

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Genotype‐phenotype correlation in French patients with myelin protein zero

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Electrophysiological features of Chronic Inflammatory Demyelinating Polyradiculoneuropathy associated with IgG4 antibodies targeting Neurofascin 155 or Contactin1 glycoproteins

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Electrophysiological features of chronic inflammatory demyelinating polyradiculoneuropathy associated with IgG4 antibodies targeting neurofascin 155 or contactin 1 glycoproteins

OBJECTIVE: Chronic inflammatory demyelinating polyradiculoneuropathies (CIDP) with antibodies against neurofascin 155 (Nfasc155) or contactin-1 (CNTN1) have distinctive clinical features. Knowledge on their electrophysiological characteristics is still scarce. In this study, we are investigating whether these patients have specific electrophysiological characteristics. METHODS: The electrophysiological data from 13 patients with anti-Nfasc155 IgG4 antibodies, 9 with anti-CNTN1 IgG4 antibodies were compared with those of 40 consecutive CIDP patients without antibodies. RESULTS: All the patients with antibodies against Nfasc155 or CNTN1 fulfilled the EFNS/PNS electrodiagnostic criteria for definite CIDP. There was no electrophysiological difference between patients with anti-CNTN1 and anti-Nfasc155 antibodies. Nerve conduction abnormalities were heterogeneously distributed along nerves trunks and roots. They were more pronounced than in CIDP without antibodies. Motor conduction velocity on median nerve &lt;24 m/s or motor velocity on ulnar nerve &lt;26 m/s or motor distal latency on ulnar nerve &gt;7.4 ms were predictive of positive antibodies against the node of Ranvier with a sensitivity of 59% and a specificity of 93%. CONCLUSIONS: Marked conduction abnormalities may suggest the presence of positive antibodies against the node of Ranvier. SIGNIFICANCE: Anti-Nfasc155 and anti-CNTN1 antibodies target the the paranodal axo-glial domain but are associated with nerve conduction abnormalities mimicking a "demyelinating" neuropathy

MYOSITIS IN PATIENTS WITH PRIMARY SJÖGREN’S SYNDROME: DATA FROM A FRENCH NATIONWIDE SURVEY

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