Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

Objective: Tourette’s syndrome is polygenic and highly heritable. Genome-wide association study (GWAS) approaches are useful for interrogating the genetic architecture and determinants of Tourette’s syndrome and other tic disorders. The authors conducted a GWAS meta-analysis and probed aggregated Tourette’s syndrome polygenic risk to test whether Tourette’s and related tic disorders have an underlying shared genetic etiology and whether Tourette’s polygenic risk scores correlate with worst-ever tic severity and may represent a potential predictor of disease severity. Methods: GWAS meta-analysis, gene-based association, and genetic enrichment analyses were conducted in 4,819 Tourette’s syndrome case subjects and 9,488 control subjects. Replication of top loci was conducted in an independent population-based sample (706 case subjects, 6,068 control subjects). Relationships between Tourette’s polygenic risk scores (PRSs), other tic disorders, ascertainment, and tic severity were examined. Results: GWAS and gene-based analyses identified one genome-wide significant locus within FLT3 on chromosome 13, rs2504235, although this association was not replicated in the population-based sample. Genetic variants spanning evolutionarily conserved regions significantly explained 92.4% of Tourette’s syndrome heritability. Tourette’s-associated genes were significantly preferentially expressed in dorsolateral prefrontal cortex. Tourette’s PRS significantly predicted both Tourette’s syndrome and tic spectrum disorders status in the population-based sample. Tourette’s PRS also significantly correlated with worst-ever tic severity and was higher in case subjects with a family history of tics than in simplex case subjects. Conclusions: Modulation of gene expression through noncoding variants, particularly within cortico-striatal circuits, is implicated as a fundamental mechanism in Tourette’s syndrome pathogenesis. At a genetic level, tic disorders represent a continuous spectrum of disease, supporting the unification of Tourette’s syndrome and other tic disorders in future diagnostic schemata. Tourette’s PRSs derived from sufficiently large samples may be useful in the future for predicting conversion of transient tics to chronic tic disorders, as well as tic persistence and lifetime tic severity

Réflexions à propos d’une expérience de formation des travailleurs sociaux sur le sida

Le présent article relate une expérience de formation qui concerne 21 groupes de travailleurs sociaux répartis dans quatre régions de France. Après avoir mentionné comment s'est manifesté le besoin de formation, l'auteure décrit les contenus des programmes, l'approche pédagogique et les divers questionnements qui ont entouré cette expérience

Elderly respondents\u27 perceptions of patronizing speech by service providers toward elderly adults.

This study examined the effects of several factors in elderly respondents\u27 evaluations of neutral and patronizing speech by nurses toward elderly targets. Thirty-eight nursing home and 62 community Caucasian elderly women viewed two videotaped vignettes, one in which a nurse spoke to an elder target in a patronizing tone, and one with a neutral tone. Both samples rated the nurse more favorably, rated the elder target more satisfied with the conversation, and assumed that the nurse-elder dyad knew each other better when the nurse\u27s speech was neutral as opposed to patronizing. Contrary to what was predicted, community elders did not rate patronizing speech any less favorably than did the nursing home sample. As predicted cognitive ability covaried significantly with speech ratings in both samples, such that speech style did not predict any unique variance in respondents\u27 evaluations after accounting for the effects of cognitive ability. Cognitive ability predicted favorable ratings of neutral speech, but not negative ratings of patronizing speech. Contrary to what was predicted, length of institutionalization was not a significant factor in nursing home elders\u27 speech style ratings. Community respondents rated the elder targets of patronizing speech as less competent and active/potent than the elder targets of neutral speech, suggesting a “blaming the victim” effect. In contrast to what was predicted, the target elder\u27s residence was not a significant factor in community respondents\u27 evaluations of speech styles or elder target\u27s competence and activity/potency. However, the manipulation of the elder target\u27s residence was most likely not salient enough to produce the predicted effect

Jeunesse et politique de la ville: quels jeunes pour quelles politiques?

« La jeunesse n’est plus ce qu’elle était », comme le rappelle Dominique Charvin; hier privilège de quelques-uns, elle est devenue avec le XXe siècle « le sort commun de tous les jeunes ». Selon les sociétés, les temps et les lieux, la jeunesse peut être ou ne pas être, peut s’ancrer ou non dans une réalité sociale. La jeunesse est un passage, passage de l’enfance à l’âge adulte qui peut se résumer à un rite d’initiation et être consommé quasiment dans l’instant. Au contraire, il peut trouver..

La Cuma forestière du Centre Var

International audienc

Etude de l'influence des pratiques de traite et d'élevage sur la qualité sanitaire du lait de chamelle en République islamique de Mauritanie

La société Tiviski achète du lait dans le Sud de la Mauritanie pour le transformer en produits finis à Nouakchott. Cette étude est menée sur un échantillon des producteurs de lait de chamelle travaillant avec cette société. Elle a pour but de déceler les liens existant entre les pratiques de traite et d'élevage et la qualité sanitaire du lait. Le principe est de croiser les caractéristiques des producteurs choisis par tirage au sort et les résultats des analyses bactériologiques du lait prélevé sur leurs chamelles. L'étude a commencé en mai 2001 pour se terminer en Août 2001. Le résultat de cette étude montre tout d'abord que les tests de laboratoire, utilisés habituellement sur des laits de vache ou de petit ruminant, s'avèrent applicables au lait de chamelle. Elle montre par ailleurs que la qualité sanitaire du lait varie avec les pratiques de traite mais aussi avec les facteurs environnementaux tels que la saison des pluies. Ce travail permet enfin de dresser une liste non exhaustive de recommandations simples à mettre en ouvre et susceptibles d'améliorer significativement la qualité sanitaire du lait

Brain structure in pediatric Tourette syndrome

Previous studies of brain structure in Tourette syndrome (TS) have produced mixed results, and most had modest sample sizes. In the present multicenter study, we used structural magnetic resonance imaging (MRI) to compare 103 children and adolescents with TS to a well-matched group of 103 children without tics. We applied voxel-based morphometry methods to test gray matter (GM) and white matter (WM) volume differences between diagnostic groups, accounting for MRI scanner and sequence, age, sex and total GM+WM volume. The TS group demonstrated lower WM volume bilaterally in orbital and medial prefrontal cortex, and greater GM volume in posterior thalamus, hypothalamus and midbrain. These results demonstrate evidence for abnormal brain structure in children and youth with TS, consistent with and extending previous findings, and they point to new target regions and avenues of study in TS. For example, as orbital cortex is reciprocally connected with hypothalamus, structural abnormalities in these regions may relate to abnormal decision making, reinforcement learning or somatic processing in TS

Mécanisation du travail forestier en régions méditerranéennes.

Compte rendu de travaux préparatoires et de 3 journées de débats et de visites d'une importante démonstration de matériels forestiers. La forêt méditerranéenne ne peut se passer de mécanisation mais ses caractéristiques botaniques, économiques, géographiques, historiques nécessitent une adaptation particulière