Distonia primária e transtorno obsessivo-compulsivo Primary dystonia and obsessive-compulsive disorder

OBJETIVO: Uma maior freqüência de transtorno obsessivo-compulsivo (TOC) em pacientes com distonia primária vem sendo relatada na literatura. O objetivo deste trabalho é revisar os estudos que investigaram a associação entre TOC e distonia primária. MÉTODOS: Artigos que correlacionaram ambas as condições, incluindo estudos caso-controle, descritivos, relatos e série de casos, foram selecionados. As bases de dados avaliadas foram Medline e Lilacs. RESULTADOS: Foram encontrados 12 artigos, sendo 8 estudos caso-controle e 4 séries ou relatos de casos. Metade dos estudos caso-controle observou mais sintomas obsessivo-compulsivos nos pacientes com distonia em relação a controles, enquanto a outra metade não. CONCLUSÃO: Os resultados são conflitantes, não sendo possível estabelecer uma conclusão definitiva acerca da associação entre distonia e TOC.<br>OBJECTIVE: Patients with primary dystonia have been reported to have a major incidence of obsessive-compulsive disorder (OCD). The objective of the present work is to review the studies that investigated the association between OCD and primary dystonia. METHODS: Articles that correlated both conditions, including case-control and descriptive studies as well as case-reports and series, were selected. Articles were searched on Medline and Lilacs. RESULTS: Twelve articles were found, and eight were case-control studies. In half of case-control studies, obsessive-compulsive symptoms were more common in patients with dystonia than controls, while in the other half there was no such a difference. CONCLUSION: As the results are controversial, definite conclusion regarding the association between dystonia and OCD cannot be established

The genome of the basidiomycetous yeast and human pathogen Cryptococcus neoformans

Cryptococcus neoformans is a basidionnycetous yeast ubiquitous in the environment, a model for fungal pathogenesis, and an opportunistic human pathogen of global importance. We have sequenced its similar to20-megabase genome, which contains similar to6500 intron-rich gene structures and encodes a transcriptome abundant in alternatively spliced and antisense messages. The genome is rich in transposons, many of which cluster at candidate centromeric regions. The presence of these transposons may drive karyotype instability and phenotypic variation. C. neoformans encodes unique genes that may contribute to its unusual virulence properties, and comparison of two phenotypically distinct strains reveals variation in gene content in addition to sequence polymorphisms between the genomes.</p

The genome of the basidiomycetous yeast and human pathogen Cryptococcus neoformans

Cryptococcus neoformans is a basidionnycetous yeast ubiquitous in the environment, a model for fungal pathogenesis, and an opportunistic human pathogen of global importance. We have sequenced its similar to20-megabase genome, which contains similar to6500 intron-rich gene structures and encodes a transcriptome abundant in alternatively spliced and antisense messages. The genome is rich in transposons, many of which cluster at candidate centromeric regions. The presence of these transposons may drive karyotype instability and phenotypic variation. C. neoformans encodes unique genes that may contribute to its unusual virulence properties, and comparison of two phenotypically distinct strains reveals variation in gene content in addition to sequence polymorphisms between the genomes

14-3-3 zeta deficient mice in the BALB/c background display behavioural and anatomical defects associated with neurodevelopmental disorders

© 2015 Macmillan Publishers Limited. Sequencing and expression analyses implicate 14-3-3? as a genetic risk factor for neurodevelopmental disorders such as schizophrenia and autism. In support of this notion, we recently found that 14-3-3?&lt;sup&gt;-/-&lt;/sup&gt; mice in the Sv/129 background display schizophrenia-like defects. As epistatic interactions play a significant role in disease pathogenesis we generated a new congenic strain in the BALB/c background to determine the impact of genetic interactions on the 14-3-3?&lt;sup&gt;-/-&lt;/sup&gt; phenotype. In addition to replicating defects such as aberrant mossy fibre connectivity and impaired spatial memory, our analysis of 14-3-3?&lt;sup&gt;-/-&lt;/sup&gt; BALB/c mice identified enlarged lateral ventricles, reduced synaptic density and ectopically positioned pyramidal neurons in all subfields of the hippocampus. In contrast to our previous analyses, 14-3-3?&lt;sup&gt;-/-&lt;/sup&gt; BALB/c mice lacked locomotor hyperactivity that was underscored by normal levels of the dopamine transporter (DAT) and dopamine signalling. Taken together, our results demonstrate that dysfunction of 14-3-3? gives rise to many of the pathological hallmarks associated with the human condition. 14-3-3? -deficient BALB/c mice therefore provide a novel model to address the underlying biology of structural defects affecting the hippocampus and ventricle, and cognitive defects such as hippocampal-dependent learning and memory