Background The Italian Clinical network for FSHD (ICNF) has established the Italian National Registry for FSHD (INRF), collecting data from patients affected by Facioscapulohumeral dystrophy (FSHD) and their relatives. The INRF has gathered data from molecular analysis, clinical evaluation, anamnestic information, and family history from more than 3500 participants. Methods A data management framework, called Mediator Environment for Multiple Information Sources (MOMIS) FSHD Web Platform, has been developed to provide charts, maps and search tools customized for specific needs. Patients’ samples and their clinical information derives from the Italian Clinical network for FSHD (ICNF), a consortium consisting of fourteen neuromuscular clinics distributed across Italy. The tools used to collect, integrate, and visualize clinical, molecular and natural history information about patients affected by FSHD and their relatives are described. Results The INRF collected the molecular data regarding FSHD diagnosis conducted on 7197 subjects and identified 3362 individuals carrying a D4Z4 Reduced Allele (DRA): 1634 were unrelated index cases. In 1032 cases the molecular testing has been extended to 3747 relatives, 1728 carrying a DRA. Since 2009 molecular analysis has been accompanied by clinical evaluation based standardized evaluation protocols. In the period 2009–2020, 3577 clinical forms have been collected, 2059 follow the Comprehensive Clinical Evaluation form (CCEF). The integration of standardized clinical information and molecular data has made possible to demonstrate the wide phenotypic variability of FSHD. The MOMIS (Mediator Environment for Multiple Information Sources) data integration framework allowed performing genotype–phenotype correlation studies, and generated information of medical importance either for clinical practice or genetic counseling. Conclusion The platform implemented for the FSHD Registry data collection based on OpenClinica meets the requirement to integrate patient/disease information, as well as the need to adapt dynamically to security and privacy concerns. Our results indicate that the quality of data collection in a multi-integrated approach is fundamental for clinical and epidemiological research in a rare disease and may have great value in allowing us to redefine diagnostic criteria and disease markers for FSHD. By extending the use of the MOMIS data integration framework to other countries and the longitudinal systematic collection of standardized clinical data will facilitate the understanding of disease natural history and offer valuable inputs towards trial readiness. This approach is of high significance to FSHD medical community and also to rare disease research in general.
In the My Smart Age with HIV (MySAwH) project1, an innovative mobile and IoMT framework has been developed to empower patients via health promotion, assessing reduction in health deficit and improvement in quality of life. The MySAwH IoMT framework has been designed to expand the traditional healthcare infrastructure providing patient monitoring and support outside the hospitals. It allows the collection of patient's data from smartphone and wearable devices, the integration and analysis of the collected data, and provide real-time insights of patient's health status. Health coaches can monitor the patient's care path and establish a direct communication channel through an integrated secure chat system. This paper describes the MySAwH IoMT framework features and demonstrate how the IoMT, mobile and wearable technologies have been successfully exploited to provide: i) physicians with a continuous patient monitoring to measure the response to illness and the life quality improvement; ii) patients with an up to date insight of health conditions and a constant support via a direct communication with the health coaches
Abstract. We investigate a security framework for collaborative applications that relies on the role-based access control (RBAC) model. In our framework, roles are pre-defined and organized in a hierarchy (partial order). However, we assume that users are not previously identified, therefore the actions that they can perform are dynamically determined based on their own attribute values and on the attribute values associated with the resources. Those values can vary over time (e.g., the user's location or whether the resource is open for visiting) thus enabling or disabling a user's ability to perform an action on a particular resource. In our framework, constraint values form partial orders and determine the association of actions with the resources and of users with roles. We have implemented our framework by exploring the capabilities of semantic web technologies, and in particular of OWL 1.1, to model both our framework and the domain of interest and to perform several types of reasoning. In addition, we have implemented a user interface whose purpose is twofold: (1) to offer a visual explanation of the underlying reasoning by displaying roles and their associations with users (e.g., as the user's locations vary); and (2) to enable monitoring of users that are involved in a collaborative application. Our interface uses the Google Maps API and is particularly suited to collaborative applications where the users' geospatial locations are of interest.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.