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Introduction En medecine, les cours facultaires sont desertes par les etudiants, qui preferent apprendre dans les livres. De nouvelles methodes d’enseignement interactives sont necessaires pour ameliorer les performances et la motivation. Objectifs Nous avons developpe et evalue une methode d’apprentissage de la semiologie neurologique basee sur le principe du jeu du chapeau. Patients et methodes Deux equipes d’etudiants jouent l’une contre l’autre. Un signe ou symptome est ecrit sur chaque carte d’une pile. Chaque equipe dispose d’un temps pre-defini pour faire deviner un maximum de mots a l’equipe adverse au cours de 3 manches : 1. par une description en utilisant tous les termes souhaites 2, avec un seul mot 3, en mimant le signe/symptome. Nous avons evalue l’efficacite de cette methode grâce a des QCM avant et apres l’enseignement, et par l’analyse des resultats aux examens de neurologie. Resultats Parmi 373 etudiants en 2e annee de medecine, 112 volontaires (32,4 %) ont participe au jeu du chapeau. Cent sept sur 112 etudiants ont complete les QCMs avant et apres l’enseignement avec une amelioration significative de leurs performances (p Discussion L’enseignement de la semiologie neurologique par le jeu du chapeau est une methode interessante car centree sur l’etudiant, amusante, et complementaire par rapport aux enseignements classiques. Notre etude presente de possibles biais de selection, et une etude controlee et randomisee serait interessante pour confirmer ces resultats preliminaires. Conclusion Le jeu du chapeau est une nouvelle methode d’enseignement efficace et amusante, qui peut etre utilisee pour l’apprentissage de la semiologie neurologique, mais qui peut egalement etre proposees pour l’enseignement d’autres specialites medicales.

Wolfram syndrome (WS) is a progressive neurodegenerative disease characterized by early-onset optic atrophy and diabetes mellitus, which can be associated with more extensive central nervous system and endocrine complications. The majority of patients harbour pathogenic WFS1 mutations, but recessive mutations in a second gene, CISD2, have been described in a small number of families with Wolfram syndrome type 2 (WFS2). The defining diagnostic criteria for WFS2 also consist of optic atrophy and diabetes mellitus, but unlike WFS1, this phenotypic subgroup has been associated with peptic ulcer disease and an increased bleeding tendency. Here, we report on a novel homozygous CISD2 mutation (c.215A > G; p.Asn72Ser) in a Moroccan patient with an overlapping phenotype suggesting that Wolfram syndrome type 1 and type 2 form a continuous clinical spectrum with genetic heterogeneity. The present study provides strong evidence that this particular CISD2 mutation disturbs cellular Ca2+ homeostasis with enhanced Ca2+ flux from the ER to mitochondria and cytosolic Ca2+ abnormalities in patient-derived fibroblasts. This Ca2+ dysregulation was associated with increased ER-mitochondria contact, a swollen ER lumen and a hyperfused mitochondrial network in the absence of overt ER stress. Although there was no marked alteration in mitochondrial bioenergetics under basal conditions, culture of patient-derived fibroblasts in glucose-free galactose medium revealed a respiratory chain defect in complexes I and II, and a trend towards decreased ATP levels. Our results provide important novel insight into the potential disease mechanisms underlying the neurodegenerative consequences of CISD2 mutations and the subsequent development of multisystemic disease.

The dopamine partial agonist aripiprazole is increasingly used to treat pathologies for which other antipsychotics are indicated because it displays fewer side effects, such as sedation and depression-like symptoms, than other dopamine receptor antagonists. Previously, we showed that aripiprazole may protect motivational function by preserving reinforcement-related signals used to sustain reward-maximization. However, the effect of aripiprazole on more cognitive facets of human reinforcement learning, such as learning from the forgone outcomes of alternative courses of action (i.e., counterfactual learning), is unknown. To test the influence of aripiprazole on counterfactual learning, we administered a reinforcement learning task that involves both direct learning from obtained outcomes and indirect learning from forgone outcomes to two groups of Gilles de la Tourette (GTS) patients, one consisting of patients who were completely unmedicated and the other consisting of patients who were receiving aripiprazole monotherapy, and to healthy subjects. We found that whereas learning performance improved in the presence of counterfactual feedback in both healthy controls and unmedicated GTS patients, this was not the case in aripiprazole-medicated GTS patients. Our results suggest that whereas aripiprazole preserves direct learning of action-outcome associations, it may impair more complex inferential processes, such as counterfactual learning from forgone outcomes, in GTS patients treated with this medication.