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Summary Objectives Metabolic abnormalities, such as, glycemic disorders and metabolic syndrome (GDMS) are one of the main causes of peripheral neuropathies. The objective of this study was to evaluate the impact of adding specific coaching care (CC) to standard care (SC) of therapeutic education based on lifestyle recommendations for neuropathies associated with GDMS. Methods This prospective randomized study included two groups of four patients (SC vs. CC) with examiners blinded to group allocation. The SC group had one day of therapeutic education on lifestyle measures (physical activity and diet recommendations) followed by only one phone call of reinforcement. The CC group received an additional weekly phone call of reinforcement for 3 months. Clinical, biological and neurophysiological variables were compared between the two groups at baseline and for the percentage of change at 3 months. Results All patients (4 men and 4 women) had diabetes or pre-diabetes, which was associated with metabolic syndrome in 5 cases. There was no difference on any variable at baseline, but at 3 months, Mann-Whitney test showed a difference (P = 0.0008) between the two groups regarding the sensory neurophysiological variable, which deteriorated in the SC group (median: −6.0%) and improved in the CC group (median: +12.4%). No significant difference was observed between the two groups for the other variables at 3 months. Conclusion The weekly coaching of recommendations for lifestyle measures over a period of three months allows an improvement of GDMS neuropathies, at least in terms of sensory aspects, as evidenced by neurophysiological assessments. [ABSTRACT FROM AUTHOR]

Highlights: [•] In 74 patients, quantitative sensory testing was performed to characterize the changes induced by peripheral neuropathy, especially associated with pain. [•] The presence or absence of pain was not associated with differences in sensory thresholds, regarding either detection or pain thresholds for mechanical and thermal sensations. [•] However, the intensity of pain, when present, increased with thermal and pain threshold alteration, showing complex relationship between pain and small fiber dysfunction. [ABSTRACT FROM AUTHOR]

Individuals carrying the amyloidogenic transthyretin (TTR) mutation are predisposed to develop familial amyloid polyneuropathy (FAP). The first clinical manifestations are often subjective sensory symptoms and, therefore, objective markers are needed to confirm the onset of TTR-FAP. The purpose of this study was to evaluate the usefulness of a comprehensive battery of neurophysiological tests to provide early markers of FAP in TTR-mutation carriers. Twenty patients with documented pathogenic TTR mutation were enrolled, including eight clinically asymptomatic carriers and 12 paucisymptomatic carriers who had subjective sensory symptoms or doubtful sensory signs but no firm clinical deficit at clinical examination. Neurophysiological assessment of large fibres consisted of conventional nerve conduction studies. Small-fibre tests included laser evoked potentials, sympathetic skin responses and the measurement of cold and warm detection thresholds and heart-rate variability. Abnormalities in small-fibre tests were found in two of the eight asymptomatic carriers and nine of the 12 paucisymptomatic carriers. In contrast, conventional conduction studies did not show any sign of polyneuropathy. Early neuropathic involvement in TTR-mutation carriers can be detected or confirmed by neurophysiological tests specifically assessing small nerve fibres. These tests did not show any redundancy or difference in their sensitivity, emphasizing the value of combining them for TTR-FAP diagnosis. [ABSTRACT FROM AUTHOR]

La plupart des patients sarcoïdosiques se plaignent de fatigue, même en dehors de toute activité objective de leur maladie. L’origine de cette fatigue n’est pas connue. Nous avons fait l’hypothèse que le système nerveux périphérique somatique moteur et que le système nerveux autonome pouvaient jouer un rôle et nous avons testé cette hypothèse en utilisant des questionnaires et des tests objectifs : le test d’Ewing, le Sudoscan et l’électroneuromyographie. Nous avons inclus huit patients sarcoïdosiques qui se plaignaient de fatigue (4 hommes et 4 femmes, âgés en moyenne de 55 ans). Cinq de ces patients présentaient une anomalie au test d’Ewing en faveur d’une dysautonomie. Toutefois, aucune corrélation significative n’a pu être retrouvée entre le score de fatigue (FAS) et le score de dysautonomie d’Ewing. Aucune corrélation significative n’était non plus retrouvée entre le FAS et le score de neuropathie des petites fibres (SFNSL). En revanche, une corrélation positive significative était retrouvée entre le niveau de fatigue des patients (évalué par le FAS) et la latence distale motrice après effort bref. En conclusion, les atteintes du système nerveux autonome semblent fréquentes chez les patients sarcoïdosiques présentant une fatigue. Un problème d’adaptabilité à l’effort des fibres nerveuses motrices périphériques pourrait également participer à la physiopathologie de ces symptômes. Toutefois, de nouvelles études portant sur un nombre de patients plus important et avec une population contrôle devraient être réalisées pour confirmer ces résultats préliminaires. Ces futures études devraient également comporter une exploration du système nerveux central (notamment de l’excitabilité corticale) compte tenu du rôle potentiel de ces structures dans la genèse de la fatigue. [ABSTRACT FROM AUTHOR]

Objective: We attempted to determine whether clinical features could differentiate painful small‐fiber neuropathy related to primary Sj€ogren's syndrome (pSS‐SFN) from idiopathic SFN (idio‐SFN). Methods: Validated clinical questionnaires and neurophysiological investigations specific for pain and SFN assessment were performed in 25 patients with pSS‐SFN and 25 patients with idio‐SFN. Results: Patients with idio‐SFN had more frequent severe burning sensations and higher mean anxiety scores and daily pain intensity compared to patients with pSSSFN. Conversely, patients with pSS‐SFN had reduced electrochemical skin conductance measured by Sudoscan_, and almost half of them had the sensation of walking on cotton wool. Conclusion: Our results suggest that idio‐SFN more specifically involved small sensory fibers than pSS‐SFN, in which subtle dysfunction of larger sensory fibers and damage of distal autonomic sudomotor innervation may occur. A practical algorithm is proposed to help to differentiate SFN associated with pSS from idio‐SFN, based on information very easy to obtain by clinical interview. [ABSTRACT FROM AUTHOR]

Background: Vinblastine (VBL) is the standard treatment for systemic Langerhans cell histiocytosis (LCH), but little is known about its efficacy in central nervous system (CNS) mass lesions.Methods: A retrospective chart review was conducted. Twenty patients from the French LCH Study Group register met the inclusion criteria. In brief, they had CNS mass lesions, had been treated with VBL, and were evaluable for radiologic response.Results: The median age at diagnosis of LCH was 11.5 years (range: 1-50). Intravenous VBL 6 mg/m2 was given in a 6-week induction treatment, followed by a maintenance treatment. The median total duration was 12 months (range: 3-30). Eleven patients received steroids concomitantly. Fifteen patients achieved an objective response; five had a complete response (CR: 25%), ten had a partial response (PR: 50%), four had stable disease (SD: 20%) and one patient progressed (PD: 5%). Of interest, four out of the six patients who received VBL without concomitant steroids achieved an objective response. With a median follow-up of 6.8 years, the 5-year event-free and overall survival was 61% and 84%, respectively. VBL was well-tolerated and there were no patient withdrawals due to adverse events.Conclusion: VBL, with or without steroids, could potentially be a useful therapeutic option in LCH with CNS mass lesions, especially for those with inoperable lesions or multiple lesions. Prospective clinical trials are warranted for the evaluation of VBL in this indication. [ABSTRACT FROM AUTHOR]