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Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study.

Pneumonite Crónica da Infância

ResumoAs doenças pulmonares intersticiais (DPI) crónicas caracterizam-se por persistência ou recorrência de dispneia e/ou tosse, de desenvolvimento insidioso e duração superior a um mês, pela presença de infiltrados pulmonares bilaterais e por alterações das trocas gasosas. A prevalência na idade pediátrica é muito baixa e o diagnóstico etiológico e o tratamento são, em regra, difíceis. Em 1995, Katzenstein e c...

Hipertiroidismo na Criança: A Propósito de Cinco Casos Clínicos

O hipertiroidismo é raro na idade pediátrica, aumentando a sua incidência na puberdade, sobretudo no sexo feminino. Uma das suas causas mais frequentes é a doença de Graves, cujo tratamento é ainda objecto de grande controvérsia, em todos os grupos etários, mas de forma ainda mais intensa na infância.Os autores fazem uma revisão dos cinco casos clínicos observados na Unidade de Endocrinologia Pediátrica do Hosp...

Congenital Heart Disease At Maternidade Júlio Dinis

Gravidez na adolescência. Sou mãe. E agora?

A realidade no HFF relativamente a gravidezes na adolescência é, segundo dados fornecidos pela Assistente Social do Serviço de Obstetrícia, ainda um número considerável: 135 mães adolescentes em 2007, 72 em 2010, 109 em 2011 e 102 no ano de 2012. O principal objectivo que temos com a apresentação deste trabalho é incutir nos profissionais de saúde que lidam com estas adolescentes diariamente no seu contexto de ...

Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Eti...

Copy Number Variants (CNVs) play an important role in susceptibility to ASD, often mediated by the deletion or duplication of genes involved in synaptic structure and function. Increasing evidence suggests a central role for defects in synaptic structure and function in the pathogenesis of non-syndromic ASD. In this study we tested the hypothesis of an enrichment in CNVs encompassing synaptic transmission genes...

Bioactive macro/micro porous silk fibroin/Nano-sized calcium phosphate scaffold...

Aim: The development of novel silk/nano-sized calcium phosphate (silk/nano-CaP) scaffolds with highly dispersed CaP nanoparticles in the silk fibroin (SF) matrix for bone tissue engineering. Materials & methods: Nano-CaP was incorporated in a concentrated aqueous SF solution (16 wt.%) by using an in situ synthesis method. The silk/nano-CaP scaffolds were then prepared through a combination of salt-leaching/ lyo...

Soil nitrogen availability in olive orchards after mulching legume cover crop r...

A natural source of nitrogen (N) is needed to increase soil fertility in traditional olive orchards and to maintain the N nutritional status of olive trees. With this aim, we studied the introduction of legume cover crops in two olive orchards, which were converted into mulches and left on the ground as phytomass after they had been cut. The experiments were carried out in Suçães and Qta do Carrascal, NE Portug...

Sustainable management of olive rainfed orchards by the introduction of legumin...

The olive sector has a crucial economic, social, cultural and ecological relevance in the Mediterranean region, where tillage and herbicides application are still generalized practices. However, these practices oppose the recommendations of UE Common Agricultural Policy and thus, management methods that decrease requirement for agricultural chemicals are needed to reduce adverse environmental impacts. Moreover,...

Green manure legumes affect seasonal soil and leaf CO2 exchange rates in an oli...

Management methods that decrease requirement for agricultural chemicals are needed to reduce adverse environmental impacts. Moreover, they can play an important role in atmospheric C02 emission and fixation. We propose green manure legumes to reduce erosion, soil compaction and nitrate pollution, to improve biodiversity, soil carbon sink and fertility, to save fossil fuels and to increase yield and the nutritio...