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.

Observatorio de salud y seguridad en el trabajo OSST - SOANDES LTDA, modelo piloto para la implementación y desarrollo

Introducción: Contar con un diagnóstico de las condiciones en seguridad y salud en el trabajo en el país permite crear estrategias para minimizar los problemas de la población trabajadora. En Colombia existe el observatorio del Instituto Nacional de Salud, sin embargo, no cuenta, en ninguno de sus tópicos, con información y análisis sobre la salud y seguridad de la población trabajadora. Objetivo: Determinar las condiciones de salud de la población atendida en la IPS SALUD OCUPACIONAL DE LOS ANDES LDTA en la ciudad de Bogotá, durante el año 2015. Materiales y métodos: Se realizó una prueba piloto del observatorio de salud y seguridad en el trabajo mediante un estudio de corte transversal, donde se tomó una base de datos de pacientes evaluados en la IPS SALUD OCUPACIONAL DE LOS ANDES LDTA, de la ciudad de Bogotá D.C. que contiene información de exámenes médicos ocupacionales realizados en el 2015 en la plataforma ISISMAWEB con una muestra representativa de 1923 registros. Se incluyeron variables sociodemográficas y laborales, los paraclínicos registrados como alterados más prevalentes, los diagnósticos y dictámenes emitidos en la población estudiada y las recomendaciones personales dadas por el sistema de gestión de la empresa. Se realizó un análisis descriptivo y para el estudio de las interacciones se empleó el Chi-cuadrado. Resultados: El 62,1% de la población fueron hombres con edad promedio de 34.8 años (DE 10,521). El 41.5% tuvieron estudios secundarios. La evaluación médica más realizada fue el examen de ingreso en el 30.5% de los casos. El cargo operadores de instalaciones y máquinas y ensambladores represento el 27.9% y en última medida los profesionales de nivel medio en operaciones financieras y administrativas con el 0.5%. El diagnostico CIE 10 emitido más frecuente fue con el 15,8% el código Z100 (Examen de salud ocupacional), seguido del Trastorno de la refracción no especificado (H527) con el 9,0%. En cuanto a las recomendaciones generales la que más se repitió fue examen periódico con un 30%. La recomendación preventiva más frecuente fue osteomuscular con el 36,5%. Las recomendaciones SVE de mayor prevalencia fueron ergonómicas con un 40,7%. Se encontraron asociaciones (p<0.05) entre las variables escolaridad, género y estrato. Conclusiones: Se deben optimizar los mecanismos de recolección del dato para ser más viable su evaluación y asociación. Hay un subregístro importante de segundos diagnósticos asociado al no registro de los paraclínicos. Este estudio plantea un modelo a seguir para poder desarrollar el observatorio nacional de salud y seguridad en el trabajo.

LA MAPOTECA VIRTUAL: UN EJEMPLO DE COLABORACIÓN BAJO UNA PLATAFORMA DE SOFTWARE LIBRE

La Mapoteca Virtual es un sitio web construido sobre la plataforma Joomla, auspiciado por la Escuela de Ciencias Geográfica de la Universidad Nacional, en colaboración con UNA VIRTUAL.Este sitio pretende apoyar la labor docente al permitirle cargar y difundir cartografía digital para los estudiantes, y a los investigadores les facilita la localización de cartografía en línea, necesaria para la realización de sus trabajos en diferentes áreas del conocimiento. Adicionalmente, es un espacio para presentar documentos actuales en relación a la práctica de la cartografía y ciencias conexas, a la vez que fomenta la colaboración y el acceso libre a cartografía digital.Palabras clave: Cartografía, Joomla, Mapas digitales, Herramientas didácticas en líneaAbstractThe Virtual Map Library, www.mapoteca.geo.una.ac.cr, is a website constructed on the Joomla platform and supported by the School of Geographic Sciences at National University, Costa Rica, in collaboration with UNAVIRTUAL. The site intends to support the work of education by allowing the teacher to load and disseminate digital cartography for the students and helping geographic investigators locate cartography needed to accomplish their works in different areas of knowledge.In addition, Mapoteca offers a space to present current  documents relating to the practice of cartography and related sciences that at the same time promotes the contribution and free access to digital cartography.Key Words: Cartography, Mapoteca Virtual, Virtual Map Library, Joomla, digital maps, online teaching tools, School of Geographic Sciences, National University, Costa Rica.

INTEGRACIÓN ESPACIAL Y ESPECTRAL DE IMÁGENES FOTOGRÁFICAS: EL CASO DE OROSI, PARAÍSO, CARTAGO – COSTA RICA

Los sensores remotos proveen imágenes que según sus características permiten determinar cambios en el uso de la tierra. Se han desarrollado sensores con alto potencial para llevar a cabo este tipo de trabajo, aunque en ocasiones es difícil tener todos los elementos para discriminar los objetos en una misma imagen, por ello recurrimos a transformaciones para la consecución de los objetivos. Este artículo constituye un subproducto del proyecto “Análisis de los cambios del uso de la tierra en el distrito de Orosi, utilizando datos teledetectados de los proyectos CENIGA1 (TERRA 97) y CARTA2 2003: período 1997-2003”. En el caso de Carta 2003 y Spot se presenta una coincidencia temporal pero no espacial ni espectral. El objetivo es ofrecer técnicas de transformación de imágenes fotográficas y multiespectrales del proyecto Carta 2003, así como una imagen de la plataforma del Spot. Las transformaciones de las imágenes permitieron cambiar la resolución espacial y espectral, las cuales variaban de 2 a 30 metros espacialmente y de 1 a 50 en su espectro. Para los objetivos de la investigación se seleccionaron 9 bandas a las cuales fue posible aplicarles las transformaciones. Se obtuvo resultante de 2 metros de resolución espacial y 9 bandas espectrales. Utilizando las resultantes se realizó la clasificación supervisada, con lo cual se obtuvo un mayor nivel de detalle en la delimitación de los diferentes usos presentes en el área de estudio. ABSTRACT Remote sensors supply images that, according to their characteristics, allow for determining changes in land use. Sensors have been developed with a high potential to carry out this type of work, although on occasion it is difficult to have all of the elements to distinguish the objects in the same image, and for that we resort to transformations to attain the objectives. This article constitutes a byproduct of the project: “Analysis of Land Use Changes in the District of Orosi, Using Remote Sensing Data of the Projects CENIGA (TERRA 97) and CARTA 2003: Period 1997-2003”. CARTA 2003 and Spot present temporary coincidence but not spatial or spectral. The objective is to offer techniques of transforming photographic images and multispectrals of the CARTA 2003 project, such as an image of the Spot platform. Transformation of the images allowed for changing the spatial and spectral resolution, which varied from 2 to 30 meters spatially and from 1 to 50 in their spectrum. For the objectives of the investigation, nine bands were selected to which it was possible to apply the transformations, and with them managed to obtain results of 2 meters of spatial resolution and 9 spectral bands. Utilizing the results, the supervised classification was realized, obtaining a greater level of detail in defining the different uses present in the area of study.

Inertial and magnetic sensors for upper limb kinematics: modeling, calibration, sensor fusion and clinical applications

The primary aim of the research activity presented in this PhD thesis was the development of an innovative hardware and software solution for creating a unique tool for kinematics and electromyographic analysis of the human body in an ecological setting. For this purpose, innovative algorithms have been proposed regarding different aspects of inertial and magnetic data elaboration: magnetometer calibration and magnetic field mapping (Chapter 2), data calibration (Chapter 3) and sensor-fusion algorithm. Topics that may conflict with the confidentiality agreement between University of Bologna and NCS Lab will not be covered in this thesis. After developing and testing the wireless platform, research activities were focused on its clinical validation. The first clinical study aimed to evaluate the intra and interobserver reproducibility in order to evaluate three-dimensional humero-scapulo-thoracic kinematics in an outpatient setting (Chapter 4). A second study aimed to evaluate the effect of Latissimus Dorsi Tendon Transfer on shoulder kinematics and Latissimus Dorsi activation in humerus intra - extra rotations (Chapter 5). Results from both clinical studies have demonstrated the ability of the developed platform to enter into daily clinical practice, providing useful information for patients' rehabilitation.

Modelling, simulation and control of rotary-wing aircraft in multi-agent scenario

The topic of this thesis is the design and the implementation of mathematical models and control system algorithms for rotary-wing unmanned aerial vehicles to be used in cooperative scenarios. The use of rotorcrafts has many attractive advantages, since these vehicles have the capability to take-off and land vertically, to hover and to move backward and laterally. Rotary-wing aircraft missions require precise control characteristics due to their unstable and heavy coupling aspects. As a matter of fact, flight test is the most accurate way to evaluate flying qualities and to test control systems. However, it may be very expensive and/or not feasible in case of early stage design and prototyping. A good compromise is made by a preliminary assessment performed by means of simulations and a reduced flight testing campaign. Consequently, having an analytical framework represents an important stage for simulations and control algorithm design. In this work mathematical models for various helicopter configurations are implemented. Different flight control techniques for helicopters are presented with theoretical background and tested via simulations and experimental flight tests on a small-scale unmanned helicopter. The same platform is used also in a cooperative scenario with a rover. Control strategies, algorithms and their implementation to perform missions are presented for two main scenarios. One of the main contributions of this thesis is to propose a suitable control system made by a classical PID baseline controller augmented with L1 adaptive contribution. In addition a complete analytical framework and the study of the dynamics and the stability of a synch-rotor are provided. At last, the implementation of cooperative control strategies for two main scenarios that include a small-scale unmanned helicopter and a rover.

Supporting requirement elicitation and ontology testing in knowledge graph engineering

Knowledge graphs and ontologies are closely related concepts in the field of knowledge representation. In recent years, knowledge graphs have gained increasing popularity and are serving as essential components in many knowledge engineering projects that view them as crucial to their success. The conceptual foundation of the knowledge graph is provided by ontologies. Ontology modeling is an iterative engineering process that consists of steps such as the elicitation and formalization of requirements, the development, testing, refactoring, and release of the ontology. The testing of the ontology is a crucial and occasionally overlooked step of the process due to the lack of integrated tools to support it. As a result of this gap in the state-of-the-art, the testing of the ontology is completed manually, which requires a considerable amount of time and effort from the ontology engineers. The lack of tool support is noticed in the requirement elicitation process as well. In this aspect, the rise in the adoption and accessibility of knowledge graphs allows for the development and use of automated tools to assist with the elicitation of requirements from such a complementary source of data. Therefore, this doctoral research is focused on developing methods and tools that support the requirement elicitation and testing steps of an ontology engineering process. To support the testing of the ontology, we have developed XDTesting, a web application that is integrated with the GitHub platform that serves as an ontology testing manager. Concurrently, to support the elicitation and documentation of competency questions, we have defined and implemented RevOnt, a method to extract competency questions from knowledge graphs. Both methods are evaluated through their implementation and the results are promising.

A Distributed Support based on Kubeflow to Ease MLOps of Federated Learning Algorithms

The main objective of my thesis work is to exploit the Google native and open-source platform Kubeflow, specifically using Kubeflow pipelines, to execute a Federated Learning scalable ML process in a 5G-like and simplified test architecture hosting a Kubernetes cluster and apply the largely adopted FedAVG algorithm and FedProx its optimization empowered by the ML platform ‘s abilities to ease the development and production cycle of this specific FL process. FL algorithms are more are and more promising and adopted both in Cloud application development and 5G communication enhancement through data coming from the monitoring of the underlying telco infrastructure and execution of training and data aggregation at edge nodes to optimize the global model of the algorithm ( that could be used for example for resource provisioning to reach an agreed QoS for the underlying network slice) and after a study and a research over the available papers and scientific articles related to FL with the help of the CTTC that suggests me to study and use Kubeflow to bear the algorithm we found out that this approach for the whole FL cycle deployment was not documented and may be interesting to investigate more in depth. This study may lead to prove the efficiency of the Kubeflow platform itself for this need of development of new FL algorithms that will support new Applications and especially test the FedAVG algorithm performances in a simulated client to cloud communication using a MNIST dataset for FL as benchmark.

Neural Network based Non Orthogonal Random Access for 6G NTN-IoT

Pervasive and distributed Internet of Things (IoT) devices demand ubiquitous coverage beyond No-man’s land. To satisfy plethora of IoT devices with resilient connectivity, Non-Terrestrial Networks (NTN) will be pivotal to assist and complement terrestrial systems. In a massiveMTC scenario over NTN, characterized by sporadic uplink data reports, all the terminals within a satellite beam shall be served during the short visibility window of the flying platform, thus generating congestion due to simultaneous access attempts of IoT devices on the same radio resource. The more terminals collide, the more average-time it takes to complete an access which is due to the decreased number of successful attempts caused by Back-off commands of legacy methods. A possible countermeasure is represented by Non-Orthogonal Multiple Access scheme, which requires the knowledge of the number of superimposed NPRACH preambles. This work addresses this problem by proposing a Neural Network (NN) algorithm to cope with the uncoordinated random access performed by a prodigious number of Narrowband-IoT devices. Our proposed method classifies the number of colliding users, and for each estimates the Time of Arrival (ToA). The performance assessment, under Line of Sight (LoS) and Non-LoS conditions in sub-urban environments with two different satellite configurations, shows significant benefits of the proposed NN algorithm with respect to traditional methods for the ToA estimation.

Iis--integrated Interactome System: A Web-based Platform For The Annotation, Analysis And Visualization Of Protein-metabolite-gene-drug Interactions By Integrating A Variety Of Data Sources And Tools.

High-throughput screening of physical, genetic and chemical-genetic interactions brings important perspectives in the Systems Biology field, as the analysis of these interactions provides new insights into protein/gene function, cellular metabolic variations and the validation of therapeutic targets and drug design. However, such analysis depends on a pipeline connecting different tools that can automatically integrate data from diverse sources and result in a more comprehensive dataset that can be properly interpreted. We describe here the Integrated Interactome System (IIS), an integrative platform with a web-based interface for the annotation, analysis and visualization of the interaction profiles of proteins/genes, metabolites and drugs of interest. IIS works in four connected modules: (i) Submission module, which receives raw data derived from Sanger sequencing (e.g. two-hybrid system); (ii) Search module, which enables the user to search for the processed reads to be assembled into contigs/singlets, or for lists of proteins/genes, metabolites and drugs of interest, and add them to the project; (iii) Annotation module, which assigns annotations from several databases for the contigs/singlets or lists of proteins/genes, generating tables with automatic annotation that can be manually curated; and (iv) Interactome module, which maps the contigs/singlets or the uploaded lists to entries in our integrated database, building networks that gather novel identified interactions, protein and metabolite expression/concentration levels, subcellular localization and computed topological metrics, GO biological processes and KEGG pathways enrichment. This module generates a XGMML file that can be imported into Cytoscape or be visualized directly on the web. We have developed IIS by the integration of diverse databases following the need of appropriate tools for a systematic analysis of physical, genetic and chemical-genetic interactions. IIS was validated with yeast two-hybrid, proteomics and metabolomics datasets, but it is also extendable to other datasets. IIS is freely available online at: http://www.lge.ibi.unicamp.br/lnbio/IIS/.

The International LAM Registry: A Component of an Innovative Web-Based Clinician, Researcher, and Patient-Driven Rare Disease Research Platform

Background: A relative friability to capture a sufficiently large patient population in any one geographic location has traditionally limited research into rare diseases. Methods and Results: Clinicians interested in the rare disease lymphangioleiomyomatosis (LAM) have worked with the LAM Treatment Alliance, the MIT Media Lab, and Clozure Associates to cooperate in the design of a state-of-the-art data coordination platform that can be used for clinical trials and other research focused on the global LAM patient population. This platform is a component of a set of web-based resources, including a patient self-report data portal, aimed at accelerating research in rare diseases in a rigorous fashion. Conclusions: Collaboration between clinicians, researchers, advocacy groups, and patients can create essential community resource infrastructure to accelerate rare disease research. The International LAM Registry is an example of such an effort.

Randomized Evaluation of Two Drug-Eluting Stents With Identical Metallic Platform and Biodegradable Polymer But Different Agents (Paclitaxel or Sirolimus) Compared Against Bare Stents: 1-Year Results of the PAINT Trial

Objectives: We tested two novel drug-eluting stents (DES), covered with a biodegradable-polymer carrier and releasing paclitaxel or sirolimus, which were compared against a bare metal stent (primary objective). The DES differed by the drug, but were identical otherwise, allowing to compare the anti-restenosis effects of sirolimus versus paclitaxel (secondary objective). Background: The efficacy of novel DES with biodegradable polymers should be tested in the context of randomized trials, even when using drugs known to be effective, such as sirolimus and paclitaxel. Methods: Overall, 274 patients with de novo coronary lesions in native vessels scheduled for stent implantation were randomly assigned (2:21 ratio) for the paclitaxel (n = 111), sirolimus (n = 106), or bare metal stent (n = 57) groups. Angiographic follow-up was obtained at 9 months and major cardiac adverse events up to 12 months. Results: Both paclitaxel and sirolimus stents reduced the 9-month in-stent late loss (0.54-0.44 mm, 0.32-0.43 mm, vs. 0.90-0.45 mm respectively), and 1-year risk of target vessel revascularization and combined major adverse cardiac events (P < 0.05 for both, in all comparisons), compared with controls. Sirolimus stents had lower late loss than paclitaxel stents (P < 0.01), but similar 1-year clinical outcomes. There were no differences in the risk of death, infarction, or stent thrombosis among the study groups. Conclusion: Both novel DES were effective in reducing neointimal hyperplasia and 1-year re-intervention, compared to bare metal stents. Our findings also suggest that sirolimus is more effective than paclitaxel in reducing angiographic neointima, although this effect was not associated with better clinical outcomes. (C) 2009 Wiley-Liss, Inc.

Customized Topography-guided Photorefractive Keratectomy With the MEL-70 Platform and Mitomycin C to Correct Hyperopia After Radial Keratotomy

PURPOSE: To evaluate topography-guided photorefractive keratectomy (PRK) for correcting hyperopia and astigmatism after radial keratotomy (RK). METHODS., Prospective study of 12 consecutive patients (19 eyes) who were treated with topography-guided PRK with 0.02% mitomycin C using an Asclepion-Meditec MEL-70 excimer laser with a 9.5-mm ablation zone. All eyes were operated by the same surgeon and followed for 1 year. RESULTS: Thirteen eyes had complete epithelialization by day 7 and all eyes by day 10. At 1 year, uncorrected visual acuity was 20/25 or better in 42.1% of eyes and 20/40 or better in 68.4%. Preoperative mean spherical equivalent refraction was +3.80 +/- 2.47 diopters (D) and +0.24 +/- 2.36 D (P <.001) 1 year postoperative, with 47.4% of eyes being within +/- 1.00 D and 73.7% within +/- 2.00 D. Preoperative mean cylinder was -2.30 +/- 1.41 D and -0.62 +/- 0.73 D (P <.1001) 1 year postoperative. At 1 year, 68.4% of eyes gained at least 1 line of best-spectacle corrected visual acuity, 36.8% gained more than 1 line, and only 2 eyes lost 1 line (one due to corneal haze). Three eyes developed central haze. Mean regression from 6 to 12 months in these 3 eyes was +1.83 D and in the remaining 16 eyes was -0.50 D. CONCLUSIONS: Topography-guided PRK with mitomycin C was safe and reasonably effective for the treatment of hyperopia after RK [J Refract Surg. 2008;24:911-922.]

A Caregiver Support Platform within the Scope of an Ambient Assisted Living Ecosystem

The Ambient Assisted Living (AAL) area is in constant evolution, providing new technologies to users and enhancing the level of security and comfort that is ensured by house platforms. The Ambient Assisted Living for All (AAL4ALL) project aims to develop a new AAL concept, supported on a unified ecosystem and certification process that enables a heterogeneous environment. The concepts of Intelligent Environments, Ambient Intelligence, and the foundations of the Ambient Assisted Living are all presented in the framework of this project. In this work, we consider a specific platform developed in the scope of AAL4ALL, called UserAccess. The architecture of the platform and its role within the overall AAL4ALL concept, the implementation of the platform, and the available interfaces are presented. In addition, its feasibility is validated through a series of tests.

The undergraduate level (1st study cycle) as a fundamental platform/standard for the development of Urban and Regional Planning in higher education programs

LUDA is a research project of Key Action 4 "City of Tomorrow & Cultural Heritage" of the programme "Energy, Environment and Sustainable Development" within the Fifth Framework Programme of the European Commission