Caracterización sociodemográfica de las enfermedades huérfanas en Colombia

Las enfermedades huérfanas en Colombia, se definen como aquellas crónicamente debilitantes, que amenazan la vida, de baja prevalencia (menor 1/5000) y alta complejidad. Se estima que a nivel mundial existen entre 6000 a 8000 enfermedades raras diferentes(1). Varios países a nivel mundial individual o colectivamente, en los últimos años han creado políticas e incentivos para la investigación y protección de los pacientes con enfermedades raras. Sin embargo, a pesar del creciente número de publicaciones; la información sobre su etiología, fisiología, historia natural y datos epidemiológicos persiste escasa o ausente. Los registros de pacientes, son una valiosa herramienta para la caracterización de las enfermedades, su manejo y desenlaces con o sin tratamiento. Permiten mejorar políticas de salud pública y cuidado del paciente, contribuyendo a mejorar desenlaces sociales, económicos y de calidad de vida. En Colombia, bajo el decreto 1954 de 2012 y las resoluciones 3681 de 2013 y 0430 de 2013 se creó el fundamento legal para la creación de un registro nacional de enfermedades huérfanas. El presente estudio busca determinar la caracterización socio-demográfica y la prevalencia de las enfermedades huérfanas en Colombia en el periodo 2013. Métodos: Se realizó un estudio observacional de corte transversal de fuente secundaria sobre pacientes con enfermedades huérfanas en el territorio nacional; basándose en el registro nacional de enfermedades huérfanas obtenido por el Ministerio de Salud y Protección Social en el periodo 2013 bajo la normativa del decreto 1954 de 2012 y las resoluciones 3681 de 2013 y 0430 de 2013. Las bases de datos obtenidas fueron re-categorizadas en Excel versión 15.17 para la extracción de datos y su análisis estadístico posterior, fue realizado en el paquete estadístico para las ciencias sociales (SPSS v.20, Chicago, IL). Resultados: Se encontraron un total de 13173 pacientes con enfermedades huérfanas para el 2013. De estos, el 53.96% (7132) eran de género femenino y el 46.03% (6083) masculino; la mediana de la edad fue de 28 años con un rango inter-cuartil de 39 años, el 9% de los pacientes presentaron discapacidad. El registro contenía un total de 653 enfermedades huérfanas; el 34% del total de las enfermedades listadas en nuestro país (2). Las patologías más frecuentes fueron el Déficit Congénito del Factor VIII, Miastenia Grave, Enfermedad de Von Willebrand, Estatura Baja por Anomalía de Hormona de Crecimiento y Displasia Broncopulmonar. Discusión: Se estimó que aproximadamente 3.3 millones de colombianos debían tener una enfermedad huérfana para el 2013. El registro nacional logró recolectar datos de 13173 (0.4%). Este bajo número de pacientes, marca un importante sub-registro que se debe al uso de los códigos CIE-10, desconocimiento del personal de salud frente a las enfermedades huérfanas y clasificación errónea de los pacientes. Se encontraron un total de 653 enfermedades, un 34% de las enfermedades reportadas en el listado nacional de enfermedades huérfanas (2) y un 7% del total de enfermedades reportadas en ORPHANET para el periodo 2013 (3). Conclusiones: La recolección de datos y la sensibilización sobre las enfermedades huérfanas al personal de salud, es una estrategia de vital importancia para el diagnóstico temprano, medidas específicas de control e intervenciones de los pacientes. El identificar apropiadamente a los pacientes con este tipo de patologías, permite su ingreso en el registro y por ende mejora el sub-registro de datos. Sin embargo, cabe aclarar que el panorama ideal sería, el uso de un sistema de recolección diferente al CIE-10 y que abarque en mayor medida la totalidad de las enfermedades huérfanas.

Porous polyurethane coatings bonded onto surface-modified titanium substrates for the growth of an endothelial cell layer

Cardiovascular diseases refer to the class of diseases that involve the heart or blood vessels (arteries and veins). Examples of medical devices for treating the cardiovascular diseases include ventricular assist devices (VADs), artificial heart valves and stents. Metallic biomaterials such as titanium and its alloy are commonly used for ventricular assist devices. However, titanium and its alloy show unacceptable thrombosis, which represents a major obstacle to be overcome. Polyurethane (PU) polymer has better blood compatibility and has been used widely in cardiovascular devices. Thus one aim of the project was to coat a PU polymer onto a titanium substrate by increasing the surface roughness, and surface functionality. Since the endothelium of a blood vessel has the most ideal non-thrombogenic properties, it was the target of this research project to grow an endothelial cell layer as a biological coating based on the tissue engineering strategy. However, seeding endothelial cells on the smooth PU coating surfaces is problematic due to the quick loss of seeded cells which do not adhere to the PU surface. Thus it was another aim of the project to create a porous PU top layer on the dense PU pre-layer-coated titanium substrate. The method of preparing the porous PU layer was based on the solvent casting/particulate leaching (SCPL) modified with centrifugation. Without the step of centrifugation, the distribution of the salt particles was not uniform within the polymer solution, and the degree of interconnection between the salt particles was not well controlled. Using the centrifugal treatment, the pore distribution became uniform and the pore interconnectivity was improved even at a high polymer solution concentration (20%) as the maximal salt weight was added in the polymer solution. The titanium surfaces were modified by alkli and heat treatment, followed by functionlisation using hydrogen peroxide. A silane coupling agent was coated before the application of the dense PU pre-layer and the porous PU top layer. The ability of the porous top layer to grow and retain the endothelial cells was also assessed through cell culture techniques. The bonding strengths of the PU coatings to the modified titanium substrates were measured and related to the surface morphologies. The outcome of the project is that it has laid a foundation to achieve the strategy of endothelialisation for the blood compatibility of medical devices. This thesis is divided into seven chapters. Chapter 2 describes the current state of the art in the field of surface modification in cardiovascular devices such as ventricular assist devices (VADs). It also analyses the pros and cons of the existing coatings, particularly in the context of this research. The surface coatings for VADs have evolved from early organic/ inorganic (passive) coatings, to bioactive coatings (e.g. biomolecules), and to cell-based coatings. Based on the commercial applications and the potential of the coatings, the relevant review is focused on the following six types of coatings: (1) titanium nitride (TiN) coatings, (2) diamond-like carbon (DLC) coatings, (3) 2-methacryloyloxyethyl phosphorylcholine (MPC) polymer coatings, (4) heparin coatings, (5) textured surfaces, and (6) endothelial cell lining. Chapter 3 reviews the polymer scaffolds and one relevant fabrication method. In tissue engineering, the function of a polymeric material is to provide a 3-dimensional architecture (scaffold) which is typically used to accommodate transplanted cells and to guide their growth and the regeneration of tissue. The success of these systems is dependent on the design of the tissue engineering scaffolds. Chapter 4 describes chemical surface treatments for titanium and titanium alloys to increase the bond strength to polymer by altering the substrate surface, for example, by increasing surface roughness or changing surface chemistry. The nature of the surface treatment prior to bonding is found to be a major factor controlling the bonding strength. By increasing surface roughness, an increase in surface area occurs, which allows the adhesive to flow in and around the irregularities on the surface to form a mechanical bond. Changing surface chemistry also results in the formation of a chemical bond. Chapter 5 shows that bond strengths between titanium and polyurethane could be significantly improved by surface treating the titanium prior to bonding. Alkaline heat treatment and H2O2 treatment were applied to change the surface roughness and the surface chemistry of titanium. Surface treatment increases the bond strength by altering the substrate surface in a number of ways, including increasing the surface roughness and changing the surface chemistry. Chapter 6 deals with the characterization of the polyurethane scaffolds, which were fabricated using an enhanced solvent casting/particulate (salt) leaching (SCPL) method developed for preparing three-dimensional porous scaffolds for cardiac tissue engineering. The enhanced method involves the combination of a conventional SCPL method and a step of centrifugation, with the centrifugation being employed to improve the pore uniformity and interconnectivity of the scaffolds. It is shown that the enhanced SCPL method and a collagen coating resulted in a spatially uniform distribution of cells throughout the collagen-coated PU scaffolds.In Chapter 7, the enhanced SCPL method is used to form porous features on the polyurethane-coated titanium substrate. The cavities anchored the endothelial cells to remain on the blood contacting surfaces. It is shown that the surface porosities created by the enhanced SCPL may be useful in forming a stable endothelial layer upon the blood contacting surface. Chapter 8 finally summarises the entire work performed on the fabrication and analysis of the polymer-Ti bonding, the enhanced SCPL method and the PU microporous surface on the metallic substrate. It then outlines the possibilities for future work and research in this area.

Identification and specification of relationships as the foundation for service bundling

Service bundling can be regarded as an option for service providers to strengthen their competitive advantages, cope with dynamic market conditions and heterogeneous consumer demand. Despite these positive effects, actual guidance for the identification of service bundles and the act of bundling itself can be regarded as a gap. Previous research has resulted in a conceptualization of a service bundling method relying on a structured service description in order to fill this gap. This method addresses the reasoning about the suitability of services to be part of a bundle based on analyzing existing relationships between services captured by a description language. This paper extends the aforementioned research by presenting an initial set of empirically derived relationships between services in existing bundles that can subsequently be utilized to identify potential new bundles. Additionally, a gap analysis points out to what extent prominent ontologies and service description languages accommodate for the identified relationships.

Disclosure, conservatism and the cost of equity capital : a review of the foundation literature

In this review piece, we survey the literature on the cost of equity capital implications of corporate disclosure and conservative accounting policy choice decisions with the principle objective of providing insights into the design and methodological issues, which underlie the empirical investigations. We begin with a review of the analytical studies most typically cited in the empirical research as providing a theoretical foundation. We then turn to consider literature that offers insights into the selection of proxies for each of our points of interest, cost of equity capital, disclosure quality and accounting conservatism. As a final step, we review selected empirical studies to illustrate the relevant evidence found within the literature. Based on our review, we interpret the literature as providing the researcher with only limited direct guidance on the appropriate choice of measure for each of the constructs of interest. Further, we view the literature as raising questions about both the interpretation of empirical findings in the face of measurement concerns and the suitability of certain theoretical arguments to the research setting. Overall, perhaps the message which is most clear is that one of the most controversial and fundamental issues underlying the literature is the issue of the diversifiability or nondiversifiability of information effects.

Identifying the beliefs which predict environmentally friendly behaviour in the Brisbane area : a foundation for informed interventions

A move to more sustainable living can provide immediate and long term health and environmental benefits. The Green Living Study consisted of a mail survey of 1186 South East Queensland residents and an online survey of a further 451 individuals, primarily from South East Queensland, and explored the predictors of environmentally friendly behaviour. This paper explores the underlying beliefs that were found to predict specific environmentally friendly behaviours, such as walking for transport, switching off lights when not in use, switching off unused appliances at the wall and shopping with reusable bags. Beliefs explored included social norms, advantages and disadvantages of performing the behaviours, and issues of control over ones behaviour. The findings showed that people’s environmentally friendly behaviours may be influenced by convenience, saving money and saving face; i.e. is it easy to do, will I be better off, and will I be seen as ‘different’? Understanding the beliefs which directly predict behaviour can help inform public policy and educational initiatives. A number of models for transferring this knowledge into policy and practice will be discussed.

Competitive advantages as a foundation for social advantage: The role of social enterprise in regional development

The belief that regions play a role in determining national economic development and that advantages are found at the local and regional level has been the focus of economic geography and development studies over the last 10 years. However, this issue has historically been dominated by economic perspectives, industrial firms, and public bodies. In recent years the social economy is starting to receive greater attention in creating regional advantage as well as ameliorating regional disadvantage. The social economy includes the impact of the third sector such as social enterprises. This paper proposes that understanding the role and function of social enterprise will enable a more nuanced understanding of the socio-economic aspects of regional development. Drawing upon Oliver’s (1997) framework for sustainable competitive advantage it is argued that this established management framework provides a valuable foundation for examining the organisational resources that social enterprise need to operate effectively, as well as the socio-economic resources they produce for regional communities.

Isotactics as a foundation for alignment and abstraction of behavioral models

There are many use cases in business process management that require the comparison of behavioral models. For instance, verifying equivalence is the basis for assessing whether a technical workflow correctly implements a business process, or whether a process realization conforms to a reference process. This paper proposes an equivalence relation for models that describe behaviors based on the concurrency semantics of net theory and for which an alignment relation has been defined. This equivalence, called isotactics, preserves the level of concurrency of aligned operations. Furthermore, we elaborate on the conditions under which an alignment relation can be classified as an abstraction. Finally, we show that alignment relations induced by structural refinements of behavioral models are indeed behavioral abstractions.

Comments on the Australian Accounting Research Foundation's Legislation Policy Discussion Paper NO.4 (A framework for financial reporting by incorporated associations)

The Australian Accounting Research Foundation (AARF) recently issued Legislative Policy Discussion Paper No.4 which proposes a framework for financial reporting by Australian incorporated associations.This paper comments on both the merits and deficiencies of the proposal. In particular it notes that the proposal simply advocates that the application of differential reporting, accounting standards, and the conceptual framework be imposed on incorporated associations by amended statutes. It is noted that in light of long experience in the corporate sector, he espoused benefits of such a move may not eventuate. Further, concern is expressed that the proposal is a blank cheque one because of the inadequacy of existing relevant accounting standards and the proposal to introduce new relevant standards. Another major defect in the proposal is that it emanates from accountants who acknowledge in their conceptual framework, the need for external reports to report on performance through both financial and non-financial reporting methods. Despite that acknowledgment, the standard set of external reports prepared by accountants do not measure performance as defined in their own conceptual framework (SAC 2) and in their auditing pronouncements (AUP 33), and they have restricted their domain to financial reporting (SAC 2). Accordingly the proposal appears to be seriously deficient and it is suggested that it be rejected and a new proposal be prepared by a multi-party group free from vested interests.

Queensland Emergency Medicine Research Foundation: Special report

The development of any new profession is dependent on the development of a special body of knowledge which is the domain of the profession and key to this is the conduct of research. In 2007, as part of the settlement of an Enterprise Bargaining Agreement and following sustained lobbying by Emergency Physicians, the Queensland Government agreed to establish an Emergency Medicine Research Fund to foster the development of research activities in Emergency Medicine in Queensland. That fund is now managed by the Queensland Emergency Medicine Research Foundation. The aims of this article are to describe the strategic approaches taken by the Foundation and its first three years of experience, to describe the application of research funds and to foreshadow an evaluative framework for determining the strategic value of this community investment. The Foundation has developed a range of personnel and project support funding programs and competition for funding has increased. Ongoing evaluation will seek to determine the effectiveness of this funding strategy on improving the effectiveness of research performance and the clinical and organisational outcomes that may derive from that initiative.

Teaching design and emotion in the foundation year : an industrial design approach

This paper showcases two design tools; the ‘storyboard’ and ‘a day in the life’ demonstrated to design students in their foundational year (first year) of study. By employing these tools during the design process the aim was to provoke students to consider and design for emotional experiences for potential users. The assessment asked students to design an MP3 player using these tools. This is demonstrated through a student project that successfully used the tools and method introduced. The teaching theory, project context, student outcome as well as challenges faced by students using this approach are discussed. The paper concludes with implications for teaching emotion theory at an undergraduate level and potential future directions.