Resumen El consumo en plataformas e-commerce está determinado por variables que afectan la confianza en línea para la toma de decisión de compra. El presente artículo divulga los resultados obtenidos a partir de una investigación cualitativa, que tuvo por objetivo la identificación de los hábitos de consumo en línea, en una muestra de personas entre los 24 y 34 años, de estratos socioeconómicos 3 y 4 de la ciudad de Bogotá. Según los resultados, dicha confianza está asociada, principalmente, con la información suministrada por el sitio web y con su historial de comentarios, la calidad del servicio posterior a la transacción en línea, la seguridad percibida y la utilidad generada en el uso de dicha plataforma. El impacto generado por el comercio electrónico en Colombia conlleva a la necesidad de investigaciones sobre las variables que definen las conductas de compra de los consumidores y que permiten una mayor efectividad en la implementación de estrategias de e-commerce en las compañías.

Abstract Consumption in e-commerce platforms is determined by variables that affect online trust for purchase decision making. The present article discloses the results obtained from qualitative research, aimed at identifying online consumption habits, in a sample of people between 24 and 34 years of age, from socio-economic levels 3 and 4 in Bogotá city. According to the results, clients associate trust mainly with the information provided by the website and its comments history, the quality of the service after the online transaction, the perceived security, and the utility generated in the use of a given platform. The impact generated by electronic commerce in Colombia leads to the need for researches on the variables that define consumers'purchasing behavior and that allow greater effectiveness in the implementation of e-commerce strategies in companies.

Resumo O consumo em plataformas e-commerce, está determinada por variáveis que afetam a confiança online para a tomada de decisão de compra, o presente artigo divulga os resultados obtidos a partir de uma pesquisa qualitativa, que teve por objetivo a identificação dos hábitos de consumo online, em uma amostra de pessoas entre os 24 e 34 anos, de estratos socioeconómicos 3 e 4 da cidade de Bogotá. Segundo os resultados, dita confiança está associada principalmente à informação fornecida pelo site e o seu historial de comentários, a qualidade do serviço posterior à transação online, a segurança percebida e a utilidade gerada no uso de dita plataforma. O impacto gerado pelo comércio eletrônico na Colômbia, leva à necessidade de pesquisas sobre as variáveis que definem as condutas de compra dos consumidores e que permitem uma maior efetividade na implementação de estratégias de e-commerce nas companhias.

Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients.