X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern

A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)

Meeting abstrac

Entrepreneurship research in service industries: a literature classification and trend analysis

In this paper, the influence of entrepreneurship on service management research is examined. Entrepreneurship research occupies a central place in organizational theory and strategic thinking, but its theories and models have little influence on business management. Entrepreneurship research can have a better integration with other areas of management, but there is still certain isolation. This article reviews the emerging areas in entrepreneurship research that provides complementary theoretical framework to service business models. In order to determine the areas in service management research in which entrepreneurship theories can be useful, a classification of the papers published in the last 2 years in the JCR service management journals is carried out. The study concludes that innovation is the most outstanding priority in service management research that can be enriched by entrepreneurial theories. 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