Publications by authors named "F Bouhour"
Objectives: The aim of this study was to describe an alternative method for the electrodiagnostic (EDX) evaluation of the sensory radial nerve (SRN).
Methods: In this retrospective study, all patients from a French EDX center (November 2022-April 2023) for whom SNAP amplitudes of the same SRN were obtained through both a conventional and an alternative method were included. In the conventional method, the active recording electrode was placed at the base of the snuff box, whereas in the alternative method, it was placed 3-4 cm proximally on the lateral border of the radial bone.
Article Synopsis
- * Researchers analyzed data from 275 CMTX1 patients across 13 centers in France, finding that those with mutations in transmembrane domains had more severe symptoms and earlier onset than those with mutations in intracellular or extracellular domains.
- * The findings suggest that the type of genetic mutation not only helps diagnose CMTX1 but also predicts disease severity, emphasizing the need to consider these correlations in upcoming clinical research.
Article Synopsis
- In three clinical trials involving 142 participants with Pompe disease, 17 were deemed suitable for home infusion of avalglucosidase alfa, receiving a total of 419 supervised infusions.
- The majority of participants with late-onset Pompe disease (LOPD) experienced non-serious adverse events, while those with infantile-onset Pompe disease (IOPD) did not report any adverse effects.
- The safety and adverse event rates during home infusion were comparable to those during clinic infusions, indicating that home administration is feasible and safe for stable patients with a prior good infusion history.
Article Synopsis
- The study assessed the link between inherited mitochondrial dysfunction and neuromuscular junction (NMJ) remodeling in patients with mitochondrial disorders, analyzing muscle biopsies from 15 patients and 10 controls.
- Results showed that patients with mitochondrial disorders had significantly more remodeled and neoformed NMJ endplates, with a trend towards increased Schwann cell extensions, indicating NMJ alterations even without muscle weakness.
- The findings suggest that mitochondrial disorders may lead to NMJ remodeling as a primary issue, separate from structural muscle damage, though the exact mechanisms and clinical indicators warrant further investigation.