BackgroundWe have examined the genomic distribution of large rare autosomal deletions in a sample of 440 parent-parent-child trios from the Quebec founder population (QFP) which was recruited for a study of Attention Deficit Hyperactivity Disorder.Methodology/Principal FindingsDNA isolated from blood was genotyped on Illumina Hap300 arrays. PennCNV combined with visual evaluation of images generated by the Beadstudio program was used to determine deletion boundary definition of sufficient precision to discern independent events, with near-perfect concordance between parent and child in about 98% of the 399 events detected in the offspring; the remaining 7 deletions were considered de novo. We defined several genomic regions of very high deletion frequency (‘hotspots’), usually of 0.4–0.6 Mb in length where independent rare deletions were found at frequencies of up to 100 fold higher than the average for the genome as a whole. Five of the 7 de novo deletions were in these hotspots. The same hotspots were also observed in three other studies on members of the QFP, those with schizophrenia, with endometriosis and those from a longevity cohort.Conclusions/SignificanceNine of the 13 hotspots carry one gene (7 of which are very long), while the rest contain no known genes. All nine genes have been implicated in disease. The patterns of exon deletions support the proposed roles for some of these genes in human disease, such as NRXN1 and PARKIN, and suggest limited roles or no role at all, for others, including MACROD2 and CTNNA3. Our results also offer an alternative interpretation for the observations of deletions in tumors which have been proposed as reflecting tumor-suppressive activity of genes in these hotspots.

Dans l’optique de l’amélioration d’une couverture de la psychothérapie au Québec, le ministère de la Santé et des Services sociaux a confié à l’Institut national d’excellence en santé et en services sociaux le mandat d’évaluer l’efficacité de la psychothérapie comparée à la pharmacothérapie dans le traitement des adultes souffrant de troubles anxieux et dépressifs. Une mise à jour d’une revue de la littérature récente et de bonne qualité a été effectuée grâce à une revue des revues systématiques traitant de la psychothérapie comparée à la pharmacothérapie dans le traitement des adultes anxieux et dépressifs avec un horizon temporel compris entre 2009 et 2013. Le niveau de l’ensemble de la preuve scientifique permet de dire que de manière générale, il n’y a pas de différence significative entre la psychothérapie et la pharmacothérapie sur le plan de la réduction des symptômes des patients souffrant de troubles anxieux ou dépressifs modérés, ce qui indique une efficacité comparable de ces deux modes de traitement. Cependant, les avantages de la psychothérapie sont maintenus plus longtemps après la fin du traitement que ceux des médicaments. La psychothérapie offre donc une meilleure protection contre la rechute. Par ailleurs, la combinaison de la psychothérapie et de la pharmacothérapie présente une efficacité supérieure à celle de la psychothérapie seule dans les cas chroniques ou graves.Introduction In Quebec, mental disorders affect one in five people in their lifetime. Anxiety and depressive disorders are the main common or moderate mental health disorders. They affect both the individuals with the disorder and the people around them and have substantial economic impact. Psychotropic drugs are the treatment option most often proposed to patients presenting with moderate mental health disorders. Psychotherapy is nevertheless a treatment that should be given consideration.Physical and financial access to psychotherapy remains limited because only one third of professionals qualified to offer it practise in the public sector, and the coverage and reimbursement policy for this service is very restricted. In order to improve such coverage, the Ministère de la Santé et des Services sociaux (MSSS) mandated the Institut national d’excellence en santé et en services sociaux (INESSS) to assess the evidence on the effectiveness of psychotherapy compared with those of pharmacotherapy for the treatment of adults with anxiety and depressive disorders.Methods An update of a review of recent and good quality literature was conducted through a review of systematic reviews dealing with psychotherapy compared to pharmacotherapy in the treatment of anxiety and depression in adults. The period covered included 2009 to 2013. The literature search strategy, modelled on that of the reference review, was applied to Medline, Cochrane Library, CINAHL, Web of Science and health technology assessment agencies. Exploration of the grey literature focused on information available on the websites of various health assessment organizations.Resu...

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