Dissection of genetic associations with language-related traits in population-based cohorts

Recent advances in the field of language-related disorders have led to the identification of candidate genes for specific language impairment (SLI) and dyslexia. Replication studies have been conducted in independent samples including population-based cohorts, which can be characterised for a large number of relevant cognitive measures. The availability of a wide range of phenotypes allows us to not only identify the most suitable traits for replication of genetic association but also to refine the associated cognitive trait. In addition, it is possible to test for pleiotropic effects across multiple phenotypes which could explain the extensive comorbidity observed across SLI, dyslexia and other neurodevelopmental disorders. The availability of genome-wide genotype data for such cohorts will facilitate this kind of analysis but important issues, such as multiple test corrections, have to be taken into account considering that small effect sizes are expected to underlie such associations

Investigation of Dyslexia and SLI Risk Variants in Reading- and Language-Impaired Subjects

Dyslexia (or reading disability) and specific language impairment (or SLI) are common childhood disorders that show considerable co-morbidity and diagnostic overlaps and have been suggested to share some genetic aetiology. Recently, genetic risk variants have been identified for SLI and dyslexia enabling the direct evaluation of possible shared genetic influences between these disorders. In this study we investigate the role of variants in these genes (namely MRPL19/C20RF3,ROBO1,DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia. We perform case–control and quantitative association analyses using measures of oral and written language skills in samples of SLI and dyslexic families and cases. We replicate association between KIAA0319 and DCDC2 and dyslexia and provide evidence to support a role for KIAA0319 in oral language ability. In addition, we find association between reading-related measures and variants in CNTNAP2 and CMIP in the SLI families

Additive manufacturing: Fused deposition modeling advances

The paradigm of the manufacturing systems was broken in 1980 with the beginning of the Additive Manufacturing (AM). This technology has been considered as the complement of the classic manufacturing technology, where the material is removed from a raw material until getting the final product. The addition of material in layers have been considered the new alternative to face the impact in the environment, the economy of materials and process, and the opportunity to generate new complex shapes limited by the classic manufacturing technology. The present chapter exposes the advances of the Fused Deposition Modeling (FDM), one of the seven technologies of AM which is mostly used during the past three decades. In this field, different adaptations and investigations of the technology have been focused on the increment of the capacity of the production system and improve the quality generated by this technique. The methodology used to determine the advance of AM was to employ a Systematic Literature Review using databases. The search was developed considering the keywords of AM for the construction of specific search syntax of documents associated with this technology. The documents obtained were analyzed to identify the progress in this technology. The results present the advancements of the FDM as a technology that change the industrial processing to customize the process, where the globalization makes possible to have this technology available at each desk