Molecular Evaluation of exons 8 and 22 of the SHANK3 gene in Autism Spectrum Disorders

Autism spectrum disorders are a group of neurodevelopmental disorders with a complex and heterogeneous etiology. Studies have shown that genetic factors play an important role in the aetiology of these diseases. Recently, de novo mutations, frameshifts and deletions have been described in the SHANK3 gene, also known as ProSAP2 gene, which encodes a synaptic scaffolding protein. All the participants of this study had normal karyotypes and underwent screening for Fragile-X syndrome. Subsequently, they were analyzed by direct sequencing of different points of exons 8 and 22 of the SHANK3 gene. None of the study participants presented with changes in these regions. These findings may be due to the fact that mutations, deletions and duplications of the SHANK3 gene are rare

The new automated daily mortality surveillance system

The experience reported in an earlier Eurosurveillance issue on a fast method to evaluate the impact of the 2003 heatwave on mortality in Portugal, generated a daily mortality surveillance system (VDM) that has been operating ever since jointly with the Portuguese Heat Health Watch Warning System. This work describes the VDM system and how it evolved to become an automated system operating year-round, and shows briefly its potential using mortality data from January 2006 to June 2009 collected by the system itself. The new system has important advantages such as: rapid information acquisition, completeness (the entire population is included), lightness (very little information is exchanged, date of death, age, sex, place of death registration). It allows rapid detection of impacts (within five days) and allows a quick preliminary quantification of impacts that usually took several years to be done. These characteristics make this system a powerful tool for public health action. The VDM system also represents an example of inter-institutional cooperation, bringing together organisations from two different ministries, Health and Justice, aiming at improving knowledge about the mortality in the population

Taxa de prenhez de vacas nelores submetidas a protocolos de IATF no Pantanal de MS.

Devido à baixa eficiência reprodutiva observada nos rebanhos brasileiros, é primordial desenvolver formas de conhecer,de controlar e de melhorar os principais índices reprodutivos (taxa de prenhez, índice de serviço, intervalo entre partos, taxa de natalidade). Essa evolução nos rebanhos de cria poderia ser incrementada através da inseminação artificial (IA), que traria benefícios indeiretos e diretos, pois a absorção de tecnologfiasespecialmente as que impactam positivamente os índices reprodutivos do rebanho de cria no Pantanal são essenciais para a manutenção do produtor na atividade em longo prazo (CARVALHO et al., 2009).bitstream/item/157417/1/CT97.pd

Spring influence of the Iberian Poleward Current into the Bay of Biscay from 1987 to 2006

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