The de novo FAIRification process of a registry for vascular anomalies

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A Framework for eHealth Interoperability Management

Reliable and secure access to and sharing of medical data can help patients practice self-care, promote patient engagement and improve their communication with healthcare professionals. This requires overcoming several interoperability, usability, ethics, security, and regulatory issues. The existence of a common interoperability framework can accelerate digital transformation in support of disease specific solutions. This paper presents a useful and relevant interoperability management framework with the potential to improve the quality of life and better control costs for the development and provision of electronic health services to individuals, within a coordinated care environment, under a local, regional, national, or cross-border setting

Foundations Of Service Science Technology And Architecture

This paper concludes the conspectus of Service Science for academicians and practitioners. It follows the two previous papers, entitled Foundations of Service Science: Concepts and Facilities and Foundations of Service Science: Management and Business, with the express purpose of defining the scope of the discipline. An eclectic background in service technology and service architecture is required to fully explore the research potential of a science based on services. This paper reviews the technical concepts needed to apply the concepts that have previously been introduced

Towards Interoperability in E-health Systems: a three-dimensional approach based on standards and semantics

Proceedings of: HEALTHINF 2009 (International Conference on Helath Informatics), Porto (Portugal), January 14-17, 2009, is part of BIOSTEC (Intemational Joint Conference on Biomedical Engineering Systems and Technologies)The interoperability problem in eHealth can only be addressed by mean of combining standards and technology. However, these alone do not suffice. An appropiate framework that articulates such combination is required. In this paper, we adopt a three-dimensional (information, conference and inference) approach for such framework, based on OWL as formal language for terminological and ontological health resources, SNOMED CT as lexical backbone for all such resources, and the standard CEN 13606 for representing EHRs. Based on tha framewok, we propose a novel form for creating and supporting networks of clinical terminologies. Additionally, we propose a number of software modules to semantically process and exploit EHRs, including NLP-based search and inference, wich can support medical applications in heterogeneous and distributed eHealth systems.This work has been funded as part of the Spanish nationally funded projects ISSE (FIT-350300-2007-75) and CISEP (FIT-350301-2007-18). We also acknowledge IST-2005-027595 EU project NeO

A FRAMEWORK FOR BIOPROFILE ANALYSIS OVER GRID

An important trend in modern medicine is towards individualisation of healthcare to tailor care to the needs of the individual. This makes it possible, for example, to personalise diagnosis and treatment to improve outcome. However, the benefits of this can only be fully realised if healthcare and ICT resources are exploited (e.g. to provide access to relevant data, analysis algorithms, knowledge and expertise). Potentially, grid can play an important role in this by allowing sharing of resources and expertise to improve the quality of care. The integration of grid and the new concept of bioprofile represents a new topic in the healthgrid for individualisation of healthcare. A bioprofile represents a personal dynamic "fingerprint" that fuses together a person's current and past bio-history, biopatterns and prognosis. It combines not just data, but also analysis and predictions of future or likely susceptibility to disease, such as brain diseases and cancer. The creation and use of bioprofile require the support of a number of healthcare and ICT technologies and techniques, such as medical imaging and electrophysiology and related facilities, analysis tools, data storage and computation clusters. The need to share clinical data, storage and computation resources between different bioprofile centres creates not only local problems, but also global problems. Existing ICT technologies are inappropriate for bioprofiling because of the difficulties in the use and management of heterogeneous IT resources at different bioprofile centres. Grid as an emerging resource sharing concept fulfils the needs of bioprofile in several aspects, including discovery, access, monitoring and allocation of distributed bioprofile databases, computation resoiuces, bioprofile knowledge bases, etc. However, the challenge of how to integrate the grid and bioprofile technologies together in order to offer an advanced distributed bioprofile environment to support individualized healthcare remains. The aim of this project is to develop a framework for one of the key meta-level bioprofile applications: bioprofile analysis over grid to support individualised healthcare. Bioprofile analysis is a critical part of bioprofiling (i.e. the creation, use and update of bioprofiles). Analysis makes it possible, for example, to extract markers from data for diagnosis and to assess individual's health status. The framework provides a basis for a "grid-based" solution to the challenge of "distributed bioprofile analysis" in bioprofiling. The main contributions of the thesis are fourfold: A. An architecture for bioprofile analysis over grid. The design of a suitable aichitecture is fundamental to the development of any ICT systems. The architecture creates a meaiis for categorisation, determination and organisation of core grid components to support the development and use of grid for bioprofile analysis; B. A service model for bioprofile analysis over grid. The service model proposes a service design principle, a service architecture for bioprofile analysis over grid, and a distributed EEG analysis service model. The service design principle addresses the main service design considerations behind the service model, in the aspects of usability, flexibility, extensibility, reusability, etc. The service architecture identifies the main categories of services and outlines an approach in organising services to realise certain functionalities required by distributed bioprofile analysis applications. The EEG analysis service model demonstrates the utilisation and development of services to enable bioprofile analysis over grid; C. Two grid test-beds and a practical implementation of EEG analysis over grid. The two grid test-beds: the BIOPATTERN grid and PlymGRID are built based on existing grid middleware tools. They provide essential experimental platforms for research in bioprofiling over grid. The work here demonstrates how resources, grid middleware and services can be utilised, organised and implemented to support distributed EEG analysis for early detection of dementia. The distributed Electroencephalography (EEG) analysis environment can be used to support a variety of research activities in EEG analysis; D. A scheme for organising multiple (heterogeneous) descriptions of individual grid entities for knowledge representation of grid. The scheme solves the compatibility and adaptability problems in managing heterogeneous descriptions (i.e. descriptions using different languages and schemas/ontologies) for collaborated representation of a grid environment in different scales. It underpins the concept of bioprofile analysis over grid in the aspect of knowledge-based global coordination between components of bioprofile analysis over grid

Serviços de integração de dados para aplicações biomédicas

Doutoramento em Informática (MAP-i)In the last decades, the field of biomedical science has fostered unprecedented scientific advances. Research is stimulated by the constant evolution of information technology, delivering novel and diverse bioinformatics tools. Nevertheless, the proliferation of new and disconnected solutions has resulted in massive amounts of resources spread over heterogeneous and distributed platforms. Distinct data types and formats are generated and stored in miscellaneous repositories posing data interoperability challenges and delays in discoveries. Data sharing and integrated access to these resources are key features for successful knowledge extraction. In this context, this thesis makes contributions towards accelerating the semantic integration, linkage and reuse of biomedical resources. The first contribution addresses the connection of distributed and heterogeneous registries. The proposed methodology creates a holistic view over the different registries, supporting semantic data representation, integrated access and querying. The second contribution addresses the integration of heterogeneous information across scientific research, aiming to enable adequate data-sharing services. The third contribution presents a modular architecture to support the extraction and integration of textual information, enabling the full exploitation of curated data. The last contribution lies in providing a platform to accelerate the deployment of enhanced semantic information systems. All the proposed solutions were deployed and validated in the scope of rare diseases.Nas últimas décadas, o campo das ciências biomédicas proporcionou grandes avanços científicos estimulados pela constante evolução das tecnologias de informação. A criação de diversas ferramentas na área da bioinformática e a falta de integração entre novas soluções resultou em enormes quantidades de dados distribuídos por diferentes plataformas. Dados de diferentes tipos e formatos são gerados e armazenados em vários repositórios, o que origina problemas de interoperabilidade e atrasa a investigação. A partilha de informação e o acesso integrado a esses recursos são características fundamentais para a extração bem sucedida do conhecimento científico. Nesta medida, esta tese fornece contribuições para acelerar a integração, ligação e reutilização semântica de dados biomédicos. A primeira contribuição aborda a interconexão de registos distribuídos e heterogéneos. A metodologia proposta cria uma visão holística sobre os diferentes registos, suportando a representação semântica de dados e o acesso integrado. A segunda contribuição aborda a integração de diversos dados para investigações científicas, com o objetivo de suportar serviços interoperáveis para a partilha de informação. O terceiro contributo apresenta uma arquitetura modular que apoia a extração e integração de informações textuais, permitindo a exploração destes dados. A última contribuição consiste numa plataforma web para acelerar a criação de sistemas de informação semânticos. Todas as soluções propostas foram validadas no âmbito das doenças raras

Mutable Class Design Pattern

The dissertation proposes, presents and analyzes a new design pattern, the Mutable Class pattern, to support the processing of large-scale heterogeneous data models with multiple families of algorithms. Handling data-algorithm associations represents an important topic across a variety of application domains. As a result, it has been addressed by multiple approaches, including the Visitor pattern and the aspect-oriented programming (AOP) paradigm. Existing solutions, however, bring additional constraints and issues. For example, the Visitor pattern freezes the class hierarchies of application models and the AOP-based projects, such as Spring AOP, introduce significant overhead for processing large-scale models with fine-grain objects. The Mutable Class pattern addresses the limitations of these solutions by providing an alternative approach designed after the Class model of the UML specification. Technically, it extends a data model class with a class mutator supporting the interchangeability of operations. Design patterns represent reusable solutions to recurring problems. According to the design pattern methodology, the definition of these solutions encompasses multiple topics, such as the problem and applicability, structure, collaborations among participants, consequences, implementation aspects, and relation with other patterns. The dissertation provides a formal description of the Mutable Class pattern for processing heterogeneous tree-based models and elaborates on it with a comprehensive analysis in the context of several applications and alternative solutions. Particularly, the commonality of the problem and reusability of this approach is demonstrated and evaluated within two application domains: computational accelerator physics and compiler construction. Furthermore, as a core part of the Unified Accelerator Library (UAL) framework, the scalability boundary of the pattern has been challenged and explored with different categories of application architectures and computational infrastructures including distributed three-tier systems. The Mutable Class pattern targets a common problem arising from software engineering: the evolution of type systems and associated algorithms. Future research includes applying this design pattern in other contexts, such as heterogeneous information networks and large-scale processing platforms, and examining variations and alternative design patterns for solving related classes of problems

A standards-based ICT framework to enable a service-oriented approach to clinical decision support

This research provides evidence that standards based Clinical Decision Support (CDS) at the point of care is an essential ingredient of electronic healthcare service delivery. A Service Oriented Architecture (SOA) based solution is explored, that serves as a task management system to coordinate complex distributed and disparate IT systems, processes and resources (human and computer) to provide standards based CDS. This research offers a solution to the challenges in implementing computerised CDS such as integration with heterogeneous legacy systems. Reuse of components and services to reduce costs and save time. The benefits of a sharable CDS service that can be reused by different healthcare practitioners to provide collaborative patient care is demonstrated. This solution provides orchestration among different services by extracting data from sources like patient databases, clinical knowledge bases and evidence-based clinical guidelines (CGs) in order to facilitate multiple CDS requests coming from different healthcare settings. This architecture aims to aid users at different levels of Healthcare Delivery Organizations (HCOs) to maintain a CDS repository, along with monitoring and managing services, thus enabling transparency. The research employs the Design Science research methodology (DSRM) combined with The Open Group Architecture Framework (TOGAF), an open source group initiative for Enterprise Architecture Framework (EAF). DSRM’s iterative capability addresses the rapidly evolving nature of workflows in healthcare. This SOA based solution uses standards-based open source technologies and platforms, the latest healthcare standards by HL7 and OMG, Decision Support Service (DSS) and Retrieve, Update Locate Service (RLUS) standard. Combining business process management (BPM) technologies, business rules with SOA ensures the HCO’s capability to manage its processes. This architectural solution is evaluated by successfully implementing evidence based CGs at the point of care in areas such as; a) Diagnostics (Chronic Obstructive Disease), b) Urgent Referral (Lung Cancer), c) Genome testing and integration with CDS in screening (Lynch’s syndrome). In addition to medical care, the CDS solution can benefit organizational processes for collaborative care delivery by connecting patients, physicians and other associated members. This framework facilitates integration of different types of CDS ideal for the different healthcare processes, enabling sharable CDS capabilities within and across organizations