A closer look at ARSA activity in a patient with metachromatic leukodystrophy.

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills with progression to dysphagia, seizures, hypotonia and death. We present a case of a 4-year-old female with rapidly progressive developmental regression with loss of motor milestones, spasticity and dysphagia. MRI showed volume loss and markedly abnormal deep white matter. Enzymatic testing in one laboratory showed arylsulfatase A activity in their normal range. However, extraction of urine showed a large increase in sulfatide excretion in a second laboratory. Measurement of arylsulfatase A in that laboratory showed a partial decrease in arylsulfatase A activity measured under typical conditions (about 37% of the normal mean). When the concentration of substrate in the assay was lowered to one quarter of that normally used, this individual had activity \u3c10% of controls. The patient was found to be homozygous for an unusual missense mutation in the arylsulfatase A gene confirming the diagnosis of MLD. This case illustrates the importance of careful biochemical and molecular testing for MLD if there is suspicion of this diagnosis

Apuntes para la construcción del turismo cultural a partir del análisis de la oferta cultural-patrimonial y su demanda por el sector turístico del Quindío

This article resumes the main results of investigations of cultural heritage realized between 2010 and 2015 and financed by the cultural secretary and the preliminary results of the project about cultural offer and demands by tourist sector in the region of Quindío. The identification of heritage and cultural potential may contribute to diversification of tourism products by integrating more cultural issues and material and immaterial heritage innovating destination in a positive way by cultural tourism. However, the disarticulation and separation of cultural sector and tourism inhibits an efficient management of cultural actives. The methodology consists in fieldwork investigating rural heritage and in realization of questionaries’ focused on cultural and artistic actors scrutinizing the state of offer, characteristics and problems, also the cultural offer integrated to tourism products and their demand, looking for analyze interests, grabs and perceptions between the two sectors. The final work with stakeholders shows the distances and lacks disturbing an adequate articulation between actors in order to create an offer of cultural tourism.Este artículo resume los resultados de investigaciones sobre el patrimonio rural entre los años 2010 y 2015 cofinanciadas por la Secretaría de Cultura del Quindío y los resultados preliminares de la investigación de la oferta cultural y su demanda por el sector turístico en el departamento del Quindío (Colombia). La identificación de los potenciales patrimoniales permite diversificar el turismo e integrar el patrimonio material e inmaterial en el diseño de productos; así mismo, las manifestaciones culturales tradicionales y las actividades culturales-artísticas pueden aportar a la innovación del destino mediante la construcción del turismo cultural. Pero estos dos sectores, el cultural y el turístico, se encuentran separados y poco articulados para una adecuada gestión de los activos culturales. La metodología consiste, por un lado, en un trabajo de campo exhaustivo para la investigación del patrimonio rural y, por el otro lado, en la realización de encuestas dirigidas a ambos sectores (el cultural y el turístico) para indagar sobre el estado actual de los grupos culturales y artísticos y las características de su oferta, así como acerca de la oferta turística actual y su demanda cultural, identificando intereses y brechas entre ambos. Esto se comprueba con la posterior aplicación de entrevistas en profundidad dirigidas a actores culturales y turísticos multiplicadores, que permiten determinar distancias y vacíos que impiden una adecuada articulación en torno a una oferta turística cultural

The involvement of records managers in cloud computing decisions: A cross-sectional study of New Zealand records managers

Research problem: Cloud computing has become an important topic in many organisations, due to the benefits it can provide to businesses and their operations. This increased interest in cloud computing is also reflected in the records management profession. However, records managers using cloud computing need to be aware of many factors that could negatively affect control of their records, and be able to manage these potential implications. This study aims to discover the level of involvement that records managers have in decision-making relating to cloud computing, and also to determine how informed records managers are about the implications of cloud computing. Methodology: The research design used was a cross-sectional study, with an online web survey being distributed to members of the NZRecords mailing list (an e-mail list for the New Zealand recordkeeping community). Results: The results of this study highlight that records managers have low levels of involvement in cloud computing decision-making, and mostly do not believe that their opinions will influence decisions about cloud computing in their organisations. The findings of the survey reveal awareness of the potential implications of cloud computing is high, although more resources and training should be made available to these records managers, especially in the area of portability and interoperability of records in the cloud. Implications: Requests are made for additional training resources to be made available. Suggestions are made for further research into the factors affecting records managers’ involvement in cloud computing decisions