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Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by pathogenic variants in GBA1 which result in the deficient activity of glucocerebrosidase (GCase). There are few data on the genetic characterization of Brazilian GD patients. This study aimed at characterizing the genotype of 72 unrelated Brazilian GD patients (type I = 63, type II = 4, type III = 5; male = 31). Forty patients were from South Brazil (SB), and 32 were from other regions of Brazil (Others). The exons and exon/intron junctions of GBA1 were analyzed by Sanger sequencing in 8 patients, or by massive parallel sequencing followed by Sanger of exons 9 and 10 in 64 patients. In total, 31 pathogenic variants were identified. The most frequent allele found was N370S (p.(Asn409Ser)) (41.0%), and the most frequent genotype was N370S/RecNciI p.[Asn409Ser];[Leu483Pro;Ala495Pro;Val499=](23.6%). Three variants (N370S – in exon 9, and RecNciI and L444P (p.(Leu483Pro), in exon 10) correspond to 76.3% of total alleles in SB and 59.4% in Others. Two novel variants were described: c.326del(p.(Gln109Argfs*9)) and c.690G>A (p.(?)). Although sequencing all the exons of GBA1 is the gold-standard method for the genetic analysis of GD patients, a step analysis can be proposed for Brazilian patients, starting with analysis of exons 9 and 10. The N370S allele is the most frequently associated with GD in Brazil.

Additive manufacturing has shown advantages for nanocomposite fabrication. Despite VAT-photopolymerization being one of the first developed 3D printing technologies, high device costs made it a technology that was difficult to access. The massive production of these devices in recent years has opened this technology to everyone. Stereolithography and Digital light processing are the most prominent technologies used in this field. This systematic review studied 217 articles regarding SLA and DLP for additive manufacture of nanocomposites. The main finding of this systematic review shows that further research on circular economy and life cycle assessment of the SLA and DLP technologies is urgently needed. Also, a deeper discussion on the technology and material costs is recommended in order to give a more detailed insight on the final cost of these 3D-printed nanocomposites.

Con el objetivo de establecer criterios mínimos relativos a la innovación social en organizaciones comunitarias agropecuarias, se hizo uso de herramientas propias de la investigación cualitativa que incluyeron búsquedas especializadas y uso de programas para análisis de datos bibliográficos (por ejemplo VOSviewer™) para determinar los elementos relativos a la gestión, gobernanza, capacidades, modelo de negocio sostenibilidad para ocho (8) organizaciones comunitarias de productores agropecuarios de la provincia del Sugamuxi, en el departamento de Boyacá, Colombia.Se pudo establecer que algunas organizaciones de productores agropecuarios que ejercen actividades en el departamento de Boyacá no están apropiando de forma integral los elementos de innovación social (en niveles operativos y gerenciales) y, consecuentemente, existe toda una ruta de mejoramiento por desarrollar con estas para optimizar los índices de eficiencia organizacional; además, se evidencia la complejidad de la temática, dado que la sostenibilidad de las innovaciones sociales dependerá en gran medida de la gestión de las organizaciones, donde se establezcan agendas institucionales compartidas contextualizadas y ajustadas a los territorios. Es necesario optimizar los canales de participación de manera mancomunada entre el Estado, las organizaciones y los mismos productores para poder dinamizar procesos, metas y alcances reales de la innovación social a la luz de los acelerados cambios a los que se enfrenta el productor agropecuario agremiado en Colombia, relativos estos a la dinámica del mercado, el acceso a recursos y otros.