0000000000194199
AUTHOR
Laurent Demougeot
Les modifications de pratique clinique liées à l’arrivée du séquençage haut débit dans le diagnostic génétique des maladies du développement
Abstract Introduction The arrival of high-throughput sequencing (HTS) has led to a sweeping change in the diagnosis of developmental abnormalities (DA) with or without intellectual deficiency (ID). With the prospect of deploying these new technologies, two questions have been raised: the representations of HTS among geneticists and the costs incurred due to these analyses. Methods Geneticists attending a clinical genetics seminar were invited to complete a questionnaire. The statistical analysis was essentially descriptive and an analysis of costs was undertaken. Results Of those responding to the questionnaire, 48% had already prescribed exome analysis and 25% had already had the occasion …
Muscle fatigue affects mental simulation of action.
International audience; Several studies suggest that when subjects mentally rehearse or execute a familiar action, they engage similar neural and cognitive operations. Here, we examined whether muscle fatigue could influence mental movements. Participants mentally and actually performed a sequence of vertical arm movements (rotation around the shoulder joint) before and after a fatiguing exercise involving the right arm. We found similar durations for actual and mental movements before fatigue, but significant temporal discrepancies after fatigue. Specifically, mental simulation was accelerated immediately after fatigue, while the opposite was observed for actual execution. Furthermore, act…
Visual gravity influences arm movement planning.
International audience; When submitted to a visuomotor rotation, subjects show rapid adaptation of visually guided arm reaching movements, indicated by a progressive reduction in reaching errors. In this study, we wanted to make a step forward by investigating to what extent this adaptation also implies changes into the motor plan. Up to now, classical visuomotor rotation paradigms have been performed on the horizontal plane, where the reaching motor plan in general requires the same kinematics (i.e., straight path and symmetric velocity profile). To overcome this limitation, we considered vertical and horizontal movement directions requiring specific velocity profiles. This way, a change i…
Action Representation in Patients with Bilateral Vestibular Impairments
During mental actions subjects feel themselves performing a movement without any corresponding motor output. Although broad information is available regarding the influence of central lesions on action representation, little is known about how peripheral damages affect mental events. In the current study, we investigated whether lack of vestibular information influences action representation. Twelve healthy adults and twelve patients with bilateral vestibular damage actually performed and mentally simulated walking and drawing. The locomotor paths implied one (first walking task) and four (second walking task) changes in the walking direction. In the drawing task, participants drew on a she…
Discrete and effortful imagined movements do not specifically activate the autonomic nervous system.
International audience; BACKGROUND: The autonomic nervous system (ANS) is activated in parallel with the motor system during cyclical and effortful imagined actions. However, it is not clear whether the ANS is activated during motor imagery of discrete movements and whether this activation is specific to the movement being imagined. Here, we explored these topics by studying the baroreflex control of the cardiovascular system. METHODOLOGY/PRINCIPAL FINDINGS: Arterial pressure and heart rate were recorded in ten subjects who executed or imagined trunk or leg movements against gravity. Trunk and leg movements result in different physiological reactions (orthostatic hypotension phenomenon) whe…
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature
IF 2.004 (2017); International audience; With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate. A review of the literature was performed, focusing on all PubMed articles repo…
Energy-related optimal control accounts for gravitational load: comparing shoulder, elbow, and wrist rotations.
International audience; Gaveau J, Berret B, Demougeot L, Fadiga L, Pozzo T, Papaxanthis C. Energy-related optimal control accounts for gravitational load: comparing shoulder, elbow, and wrist rotations. J Neurophysiol 111: 4-16, 2014. First published October 16, 2013; doi: 10.1152/jn.01029.2012.-We permanently deal with gravity force. Experimental evidences revealed that moving against gravity strongly differs from moving along the gravity vector. This directional asymmetry has been attributed to an optimal planning process that optimizes gravity force effects to minimize energy. Yet, only few studies have considered the case of vertical movements in the context of optimal control. What kin…