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Objective: As exercise intolerance and exercise‐induced myalgia are commonly encountered in metabolic myopathies, functional screening tests are commonly used during the diagnostic work‐up. Our objective was to evaluate the accuracy of isometric handgrip test (IHT) and progressive cycle ergometer test (PCET) to identify McArdle disease and myoadenylate deaminase (MAD) deficiency and to propose diagnostic algorithms using exercise‐induced lactate and ammonia variations. Methods: A prospective sample of 46 patients underwent an IHT and a PCET as part of their exercise‐induced myalgia and intolerance evaluation. The two diagnostics tests were compared against the results of muscle biopsy and/or the presence of mutations in PYGM. A total of 6 patients had McArdle disease, 5 a complete MAD deficiency (MAD absent), 12 a partial MAD deficiency, and 23 patients had normal muscle biopsy and acylcarnitine profile (disease control). Results: The two functional tests could diagnose all McArdle patients with statistical significance, combining a low lactate variation (IHT: <1 mmol/L, AUC = 0.963, P < .0001; PCET: <1 mmol/L, AUC = 0.990, P < .0001) and a large ammonia variation (IHT: >100 μmol/L, AUC = 0.944, P = .0005; PCET: >20 μmol/L, AUC = 1). PCET was superior to IHT for MAD absent diagnosis, combining very low ammonia variation (<10 μmol/L, AUC = 0.910, P < .0001) and moderate lactate variation (>1 mmol/L). Conclusions: PCET‐based decision tree was more accurate than IHT, with respective generalized squared correlations of 0.796 vs 0.668. IHT and PCET are both interesting diagnostic tools to identify McArdle disease, whereas cycle ergometer exercise is more efficient to diagnose complete MAD deficiency. [ABSTRACT FROM AUTHOR]

Background: Population-based stroke registries are necessary to evaluate the precise burden of stroke. The methodology used in the Brest Stroke Registry and an estimation of its completeness are described. Methods: 'Hot pursuit' as well as 'cold pursuit' were used, and five sources of identification were included: emergency wards, brain imaging, practitioners, death certificates and hospital-based electronic research. Ascertainment for each case was certified by a neurologist. Inclusion criteria were: (1) age >15 years; (2) a stroke defined by WHO criteria or all neurological deficits lasting at least 1 h. Completeness was estimated using capture-recapture method. Results: For 2008, 2009 and 2010, 851, 898, 823 patients were collected, respectively. The number of sources of identification per patient was as follows: one source: 30.8, 24.1 and 18.7%; two sources: 54.5, 42.9 and 31.0%; three sources: 13.4, 30.1 and 46%; four sources: 1.3, 3.0 and 3.8%. Capture-recapture analysis showed data completeness over 90%. Standardized cumulative first-ever stroke incidence using a world standard population was 87 in 2008, 87 in 2009 and 84 in 2010. Conclusions: Case ascertainment by a neurologist, numerous sources, as well as 'hot' and 'cold' pursuit can provide a reliably large data set suitable for further epidemiological studies. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. Mutations of DOK7 have recently been described in recessive forms of CMS. Dok-7 is a cytoplasmic post-synaptic protein co-activator of the muscle-specific receptor-tyrosine kinase (MuSK) involved in neuromuscular synaptogenesis and maintenance. We report clinical, morphological and molecular data on 15 patients with mutations in DOK7. Eleven different mutations (5 novel) were identified and all patients but one were found to carry at least the common c.1124_1127dupTGCC mutation. Patients with DOK7 mutations have a particular limb-girdle pattern, without tubular aggregates but a frequent lipidosis on the muscle biopsy. Changes in pre- and post-synaptic compartments of the neuromuscular junction were also observed in muscle biopsies: terminal axons showed defective branching which resulted in a unique terminal axon contacting en passant postsynaptic cups. Clinical features, muscle biopsy findings or response to therapy were confusing in several patients. Characterization of this distinct phenotype is essential to provide clues for targeted genetic screening and to predict the therapeutic response to anticholinesterase treatments or ephedrine as has been suggested. [ABSTRACT FROM AUTHOR]

Introduction: Sport is recognized as beneficial for health. In certain situation of practice, it nevertheless appears likely to induce a stress response. Anxiety is a stress response-modulating factor. Our objective is to characterize the role of anxiety in the stress response induced by a selective physical exercise.Method: Sixty-three young male military conducted a selective sporting running event (a 8-km commando-walk) and were recorded the day before, the day of the race, and the day after. The variables were psychometric [personality questionnaires, coping and anxious/stress state, and physiological (nocturnal heart rate variability and actigraphy)]. The subjects were classified, using scores on anxiety questionnaires at baseline, into two groups according to their anxious (G ANX) or non-anxious (G N-ANX).Results: Before the race, the G ANX was characterized by a lower level of self-esteem, higher scores in dysfunctional coping and a greater perceived stress compared to the G N-ANX. Compared to G N-ANX, the stress response to the exercise was higher in G ANX: G ANX exhibited (Selye, 1950) in immediate post-exercise, greater level in activation markers, and mental fatigue associated with a same level of physical fatigue and (Kim et al., 2018) in nocturnal post-exercise, an increase in sympathetic activation associated with a higher sleep fragmentation.Conclusion: A competition selection sport exercise causes a stress response, particularly for anxious subjects. Anxious status could be involved in the risk of emergence of overtraining in sport practice. These results must be taken into account when sport practice is used for anxiety management.

Abstract: Schwannomas are tumors with slowly progressive symptoms, more often painful than associated with neurologic deficits. Involvement of the sciatic nerve mimics chronic sciatic pain due to a herniated disk. If there is no lumbar pain and lumbar MRI is normal, the sciatic nerve must be clinically and radiologically examined all along its course. We report a patient with chronic sciatica in whom physical examination revealed a painful mass with a Tinel sign in her back tigh. MRI showed a multilobular mass along the sciatic nerve. Surgery of this plexiform schwannoma allowed a complete relief from pain. [Copyright &y& Elsevier]

Introduction. – Infection with Histoplasma capsulatum (Hc) is a rare importing disease in metropolitan France, the most often minor but sometimes letal in its spread form.Exegesis. – A 58 years old French man, HIV seronegative, was admitted for an alteration of its general condition, disorder and buccal ulcerations. He had a prostate cancer history and came back in France after 17 years in Central Africa. The imaging showed numerous cerebral nodes, a bilateral adrenal tumor, and pulmonary calcifications. Histoplasmosis diagnosis has been done after neurosurgical cerebral biopsy wich displayed characteristic Hc. The sick man died 4 months later with multivisceral failures, in spite of amphotericine B treatment followed by oral then intraveinous itraconazole.Conclusion. – Even in an old tropical residence, ones can be able to conjure up a deep exotic fungal infection, and most specifically Hc histoplasmosis, in front of meaningful multivisceral lesions. Disseminated histoplasmosis (HD) with neurological location is misleading, mimicking tuberculosis or cancer. In order to obtain formal mycological evidence, ones have to make adapted biopsies. Antifungal agents must take into account medicinal interaction. Therefore, prognosis is bad, according to inoculum, immunodeficiency, age of disease and diagnosis delay. [Copyright &y& Elsevier]

Introduction: Injuries induced by falls represent the main cause of failure in the French Navy Special Forces selection course. In the present study, we made the assumption that probing the posture might contribute to predicting the risk of fall-related injury at the individual level., Methods: Before the start of the selection course, the postural signals of 99 male soldiers were recorded using static posturography while they were instructed to maintain balance with their eyes closed. The event to be predicted was a fall-related injury during the selection course that resulted in the definitive termination of participation. Following a machine learning methodology, we designed an artificial neural network model to predict the risk of fall-related injury from the descriptors of postural signal., Results: The neural network model successfully predicted with 69.9% accuracy (95% CI 69.3-70.5) the occurrence of a fall-related injury event during the selection course from the selected descriptors of the posture. The area under the curve value was 0.731 (95% CI 0.725-0.738), the sensitivity was 56.8% (95% CI 55.2-58.4) and the specificity was 77.7% (95% CI 76.8-0.78.6)., Conclusion: If confirmed with a larger sample, these findings suggest that probing the posture using static posturography and machine learning-based analysis might contribute to inform risk assessment of fall-related injury during military training, and could ultimately lead to the development of novel programmes for personalised injury prevention in military population., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Automatic tools for detecting new lesions in patients with MS between two MRI scans are now available to clinicians. They have been assessed from the radiologist's point of view, but their impact on the therapeutic strategies that neurologists offer their patients has not yet been documented., Objectives: To compare neurologist's decisions according to whether a lesion detection support system had been used and describe variability between neurologists on decision-making for the same clinical cases., Methods: We submitted 28 clinical cases associated with pairs of MRI images and radiological reports (produced by the same radiologist without vs. with the help of a system to detect new lesions) to 10 neurologists who regularly follow patients with MS. They examined each clinical case twice (without vs. with support system) in two sessions several weeks apart, and their patient management decisions were recorded., Results: There was considerable variability between neurologists on decision-making (both with and without support system). When the support system had been used, neurologists more often made changes to patient management (75 % vs. 68 % of cases, p = 0.01) and spent significantly less time analyzing the clinical cases (249 s vs. 216 s, p == 3.10-4)., Conclusion: The use of a lesion detection support system has an impact not only on radiologists' reports, but also on neurologists' subsequent decision-making. This observation constitutes another strong argument for promoting the wider use of such systems in clinical routine. However, despite their use, there is still considerable variability in decision-making across neurologists, which should encourage us to refine the guidelines., Competing Interests: Declaration of Competing Interest On behalf of all authors, the corresponding author states that there is no conflict of interest., (Copyright © 2023. Published by Elsevier B.V.)

Continuous subcutaneous apomorphine infusion (CSAI) is used to treat patients with Parkinson's disease (PD) who are experiencing motor fluctuations. However, the need to initiate this treatment during a hospital stay may restrict patients' access to it. To assess the feasibility and benefits of initiating CSAI in the patient's own home. A French prospective multicenter longitudinal observational study (APOKADO) among patients with PD who required subcutaneous apomorphine, comparing in-hospital versus home initiation. Clinical status was assessed according to the Hoehn and Yahr score), the Unified Parkinson's Disease Rating Scale Part III, and the Montreal Cognitive Assessment. We assessed patients' quality of life with the 8-item Parkinson's Disease Questionnaire, rated the improvement in their clinical status on the 7-point Clinical Global Impression-Improvement scale, recorded adverse events, and ran a cost-benefit analysis. 145 patients with motor fluctuations were included in 29 centers (office and hospital). Of these, 106 (74%) were initiated onto CSAI at home, and 38 (26%) in hospital. At inclusion, the two groups were comparable for all demographic and PD characteristics. After 6 months, quality of life, adverse events and early dropout rates were similarly rare-across the two groups. Patients in the home group improved more quickly their quality of life and became more autonomous in managing the device than those in the hospital group, and their care costed less. This study shows that home (versus in-hospital) initiation of CSAI is feasible, improves patients' quality of life more quickly, with the same level of tolerance. It is also less expensive. This finding should make it easier for patients to access this treatment in the future., (© 2023. The Author(s).)

Purpose of Review: We assessed the relation between environmental greenness and risk of dementia and cognitive impairment, based on a systematic review and meta-analysis up to March 30, 2022, characterizing whenever possible the shape of the association using dose-response meta-analysis., Recent Findings: Twelve studies were included in this review, either using normalized difference vegetation index (NDVI) or land use/cover (LU/LC) methodology to assess greenness. Comparing the highest versus lowest exposure categories of greenness assessed using the NDVI (6 studies) or LU/LC (6 studies), we found no association with dementia. Dose-response meta-analysis of the association between greenness measured by LU/LC and dementia, based on only 3 studies, indicated a U-shaped association, but estimates were imprecise. Our systematic review and meta-analysis provided some evidence of a slight inverse association between greenness and dementia at intermediate exposure levels, but not at high levels. Potential methodological limitations, such as exposure misclassification and unmeasured confounding, may have affected the results., (© 2022. The Author(s).)

Background and Aim: The COVID-19 pandemic has severely affected the world's population in the last two years. Along with non-pharmacological public health interventions, major efforts have also been made to identify effective drugs or active substances for COVID-19 prevention and treatment. These include, among many others, the trace elements zinc and selenium, based on laboratory studies and some observational human studies. However, both of these study designs are not adequate to identify and approve treatments in human medicine, and experimental studies in the form of randomized controlled trials are needed to demonstrate the effectiveness and the safety of any interventions., Methods: We undertook a systematic review in which we searched for published and unpublished clinical trials using zinc or selenium supplementation to treat or prevent COVID-19 in the Pubmed, Scopus and ClinicalTrials databases up to 10 January 2022., Results: Amongst the published studies, we did not find any trial with selenium, whereas we retrieved four eligible randomized clinical trials using zinc supplementation, only one of which was double-blind. One of these trials looked at the effect of the intervention on the rate of new SARS-CoV-2 infections, and three at the COVID-19 clinical outcome in already infected individuals. The study populations of the four trials were very heterogeneous, ranging from uninfected individuals to those hospitalized for COVID-19. Only two studies investigated zinc alone in the intervention arm with no differences in the endpoints. The other two studies examined zinc in association with one or more drugs and supplements in the intervention arm, therefore making it impossible to disentangle any specific effects of the element. In addition, we identified 22 unpublished ongoing clinical trials, 19 on zinc, one on selenium and two on both elements., Conclusion: No trials investigated the effect of selenium supplementation on COVID-19, while the very few studies on the effects of zinc supplementation did not confirm efficacy. Therefore, preventive or therapeutic interventions against COVID-19 based on zinc or selenium supplementation are currently unjustified, although when the results of the on-going studies are published, this may change our conclusion., (Copyright © 2022 Elsevier GmbH. All rights reserved.)

Background: Studies have shown that oral high-dose methylprednisolone (MP) is non-inferior to intravenous MP in treating multiple sclerosis relapses in terms of effectiveness and tolerance. In order to assist with resource allocation and decision-making, its cost-effectiveness must also be assessed. Our objective was to evaluate the cost-utility of per os high-dose MP as well as the cost-savings associated with implementing the strategy., Methods: A cost-utility analysis at 28 days was carried out using data from the French COPOUSEP multicenter, double-blind randomized controlled non-inferiority trial and the statutory health insurance reimbursement database. Costs were calculated using a societal perspective, including both direct and indirect costs. An incremental cost-effectiveness ratio was calculated and bootstrapping methods assessed the uncertainty surrounding the results. An alternative scenario analysis in which MP was administered at home was also carried out. A budgetary impact analysis was carried at five years., Results: In the conditions of the trial (hospitalized patients), there was no significant difference in utilities and costs at 28 days. The incremental cost-effectiveness ratio was €15,360 per quality-adjusted life-year gained. If multiple sclerosis relapses were treated at home, oral MP would be more effective, less costly and associated with annual savings up to 25 million euros for the French healthcare system., Conclusions: Oral MP is cost-effective in the treatment of multiple sclerosis relapses and associated with major savings., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Neuromyelitis optica spectrum disorder is characterized by attacks of optic neuritis and/or longitudinally extensive transverse myelitis and the presence of anti-aquaporin-4 autoantibodies. Most relapses of neuromyelitis optica worsen over days and then slowly improve in the weeks or months after the maximum clinical deficit has been reached. However, recovery is usually incomplete. The diagnosis of the disease and attacks must be made as early as possible and require emergency treatment. Dermatologists can play a role in achieving this end. Neuropathic pruritus is common and can be used to diagnose neuromyelitis optica. Hence, the association of pruritus with optic neuropathy and some symptoms of transverse myelitis strongly suggest this diagnosis. Many autoimmune diseases can sometimes be associated with neuromyelitis optica. Patients with newly diagnosed skin infections or sexually transmitted diseases need to be informed that these infections could trigger a relapse of neuromyelitis optica., (© 2022 S. Karger AG, Basel.)