Bioterrorism and public health

EditorialS

Recursos asistenciales y de investigación en enfermedades raras ubicados en la Comunidad de Madrid

El principal objetivo de este trabajo es desarrollar y poner al servicios de las administraciones sanitarias y también de los ciudadanos, un informe sobre los centros y unidades asistenciales y de investigación existentes en la Comunidad de Madrid (CM), que pudieran ser de utilidad para la planifi cación de los recursos orientados al control y seguimiento de las personas con enfermedades raras en el ámbito de esta comunidad

Autism Spectrum Disorders in the European Union (ASDEU)

The improving support services for people with autism spectrum disorder (ASD) and their families in Europe requires knowledge of their epidemiological status, as well as the identification of the most effective experiences and procedures for detection, diagnosis, treatment and support that are most valued by the recipients of these services. The project "Autism Spectrum Disorder in the European Union" (ASDEU) has promoted between 2014 and 2018 a set of research strategies that have allowed the application of a public health model to ASD focused on prevalence estimation methods, early detection programs and the improvement of diagnosis and early intervention. This article presents a summary of the results obtained, as well as the main conclusions. It highlights the need to set up a comprehensive system based on ASD population registries, which provides a systematic information about the ASD prevalence in Europe; likewise, the article proposes to strengthen detection strategies to make it more systematic at a population level; to improve diagnostic processes so that they are faster, include information on the support needs of the person and incorporate families; and to promote early intervention with greater participation of families and linkage to the child's regular setting.La mejora de los servicios de apoyo para las personas con trastorno del espectro autista (TEA) y a sus familias en Europa requiere conocer su realidad epidemiológica, así como identificar las experiencias y procedimientos para la detección, diagnóstico, tratamiento y apoyo más eficaces y mejor valorados por los receptores de estos servicios. El proyecto "El Trastorno del Espectro Autista en la Unión Europea" (ASDEU) ha impulsado entre 2014 y 2018 un conjunto de estrategias de investigación que han permitido aplicar un modelo de salud pública sobre los TEA centrado en los métodos de estimación de la prevalencia, los programas de detección precoz y la mejora del diagnóstico y la intervención temprana. En este artículo se presenta un resumen de los resultados obtenidos, así como de las conclusiones principales. Se destaca la necesidad de contar con un sistema fiable de medición de la prevalencia de los TEA en la Unión Europea, siendo la versión metodológica más eficiente la basada en registros de TEA de base poblacional; así mismo se propone fortalecer las estrategias de detección para hacerla más sistemática a nivel poblacional; mejorar los procesos de diagnóstico para que sean más rápidos, incluyan información sobre las necesidades de apoyo de la persona e incorporen a las familias; y potenciar la intervención temprana con mayor participación de las familias y vinculación al entorno habitual del menor

Impact of rare diseases in oral health

Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade. Comparative observational case-control studies were analysed and a systematic review was conducted in PubMed. Each rare disease listed on the statistical data record of the Health Portal of the Ministry of Equality, Health and Social Policies Board of Andalusia was associated with ?oral health?. The variables studied included dental, oral mucosa and occlusion alterations, oral pathologies (caries, periodontal disease) and other alterations (mouth breathing, parafunctional habits, etc). A bias analysis of the variable caries was conducted. Six RD were selected through our inclusion and exclusion criteria (hypogammaglobulinemia, Rett syndrome, Marfan syndrome, Prader-Willi syndrome, cystic fibrosis and Cri du chat syndrome) in a total of 8 publications, of which four trials were classified as high risk of bias and one of them as medium risk. There were not trials with low risk of bias. The main statistically significant differences found by Syndrome compared to a control group were in Hypogammaglobulinemia with a greater tendency to enamel hypoplasia and dry mouth. The Rett syndrome had, as well, a greater tendency to an anterior open bite, ogival palate, bruxism, mouth breathing and tongue thrusting. Prader-Willi syndrome had a tendency of dental erosion, and Cri du chat syndrome showed a higher association to Tannerella forsythia

Indicadores de salud ambiental

This presentation gives a general overview of the project titled Environmental Health Indicators, coordinated by WHO and managed by the Research Centre on the Toxic Oil Syndrome and Rare Diseases in Spain. The presentations describes the objectives of the project, the steps taken and the results obtained during the feasibility study. The project aims to develop an environmental health information system that will allow the monitoring of public health and its health determinants and make international comparisons, develop environmental policies and facilitate communication with citizens. WHO developed a methodology for the development of these indicators within the conceptual framework of DPSEEA (Driving Force, Pressure, State, Exposure, Effect, Action) and selected a total of 55 indicators (which included 168 variables) in 10 environmental health areas. The feasibility study predicted the successful gathering of 89% of the indicators. However, data recollection proved difficult due to the frequent incompatibility of some variables in the Spanish information systems with the WHO defined variables. On a management level, the greatest difficulty arose from the disperse distribution of responsibilities in environmental health matters. In addition to the technical contribution of this project to Environmental Health in Spain, an added value has been to establish a close collaboration with the different Ministries involved.Esta ponencia presenta una visión general del proyecto de Indicadores de Salud Ambiental, coordinado por la OMS a nivel internacional y liderado por el Centro de Investigación sobre el Síndrome del Aceite Tóxico y Enfermedades Raras (CISATER) en España. En ella se describen los objetivos del proyecto, las gestiones realizadas y los resultados obtenidos durante la fase de viabilidad de este proyecto. El proyecto consiste en el establecimiento de un sistema de información sobre salud ambiental que permita desarrollar una vigilancia de los factores ambientales determinantes de los estados de salud, realizar comparaciones internacionales, elaborar políticas de acción, así como facilitar la comunicación con la ciudadanía. La OMS desarrolló una metodología para el desarrollo de estos indicadores dentro del marco conceptual de información ambiental DPSEEA (Fuerzas impulsoras, Presión, Estado, Exposición, Efecto, Acción) y seleccionó un total de 55 indicadores (que incluyen 168 variables) sobre 10 áreas de la salud ambiental. Durante la fase de viabilidad se predijo que podrían obtenerse el 89% de los indicadores. Sin embargo la recolección de los datos supuso muchas dificultades debido a la incompatibilidad de algunas variables en los sistemas de información españoles con las variables definidas por la OMS. A nivel de gestión del proyecto, la mayor dificultad radica en la disparidad de responsabilidades en materia de medio ambiente y salud entre las instituciones españolas. Además de la aportación técnica a la salud ambiental en España, un valor añadido de este proyecto ha sido el establecimiento de líneas de colaboración estrechas con los responsables de los diferentes Ministerios implicados

The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration

BACKGROUND: The European Union acknowledges the relevance of registries as key instruments for developing rare disease (RD) clinical research, improving patient care and health service (HS) planning and funded the EPIRARE project to improve standardization and data comparability among patient registries and to support new registries and data collections. METHODS: A reference list of patient registry-based indicators has been prepared building on the work of previous EU projects and on the platform stakeholders' information needs resulting from the EPIRARE surveys and consultations. The variables necessary to compute these indicators have been analysed for their scope and use and then organized in data domains. RESULTS: The reference indicators span from disease surveillance, to socio-economic burden, HS monitoring, research and product development, policy equity and effectiveness. The variables necessary to compute these reference indicators have been selected and, with the exception of more sophisticated indicators for research and clinical care quality, they can be collected as data elements common (CDE) to all rare diseases. They have been organized in data domains characterized by their contents and main goal and a limited set of mandatory data elements has been defined, which allows case notification independently of the physician or the health service. CONCLUSIONS: The definition of a set of CDE for the European platform for RD patient registration is the first step in the promotion of the use of common tools for the collection of comparable data. The proposed organization of the CDE contributes to the completeness of case ascertainment, with the possible involvement of patients and patient associations in the registration process.This work is part of the activities of the project titled “Building Consensus and synergies for the EU Registration of Rare Disease Patients” (EPIRARE), funded by the European Commission within the framework of the Health Project, Work Plan 2010 (Grant n. 20101202).S

El retraso en el diagnóstico de las enfermedades raras y sus consecuencias

Artículo de divulgación publicado en The Conversation España, el 16/03/2023.El diagnóstico de las enfermedades raras es tan complejo que lo habitual es que se prolongue en el tiempo. Las consecuencias de ese retraso las sufren los pacientes, que tardan años, o incluso décadas, en poder ponerle nombre a su enfermedad. Hablamos de retraso diagnóstico cuando se tarda más de un año en ser diagnosticado de una enfermedad rara conocida. Pese a que es un problema de primer nivel reivindicado por las asociaciones de pacientes y los organismos internacionales, apenas hay datos sobre cuál es la situación.N

Temporal and Cartographic Analyses of the Distribution within Spain of Mortality Due to Granulomatosis with Polyangiitis (1984⁻2016)

The aim is to conduct a descriptive, population-based study in order to assess temporal and spatial changes in mortality due to granulomatosis with polyangiitis (GPA) in Spain from 1984 to 2016. Mortality data were obtained from the Spanish Annual Death Registry. Deaths in which GPA was the underlying cause were selected using the 446.4 and M31.3 codes from the International Classification of Diseases, 9th and 10th revision. Annual average age at death and age-adjusted mortality rates were calculated. Geographic analysis was performed at municipality and district level. Variations in mortality according to the type of municipality (urban, agro-urban or rural), district and geographic location (degrees of latitude) were assessed using standardized mortality ratios (SMRs) and smoothed-SMRs. Over the whole period, 620 deaths due to GPA were identified. Age at death increased at an average annual rate of 0.78% over the period 1987-2016 (p < 0.05). Age-adjusted mortality rates increased by an annual average of 20.58% from 1984 to 1992, after which they fell by 1.91% a year (p < 0.05). The agro-urban category had the highest percentage (4.57%) of municipalities with a significantly higher GPA mortality rate than expected. Geographic analysis revealed four districts with a higher risk of death due to GPA, two in the North of Spain and two in the South. This population-based study revealed an increase in the age at death attributed to GPA. Age-adjusted mortality rates went up sharply until 1992, after which they started to decline until the end of the study period. Geographic differences in mortality risk were identified but further studies will be necessary to ascertain the reasons for the distribution of GPA disease.This research was supported by the Spanish Stategy Action for Health (AESI), project no. TPY1238/15. GS enjoys a research grant funded by the Spanish Ministry of Education, Culture and Sport (No. FPU14/03914).S

Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations

Familial Mediterranean Fever (FMF) is a rare, hereditary, auto-inflammatory disease. The aims of this study were to explore the time trend and geographical distribution of hospitalizations in Spain from 2008 to 2015. We identified hospitalizations of FMF from the Spanish Minimum Basic Data Set at hospital discharge, using ICD-9-CM code 277.31. Age-specific and age-adjusted hospitalization rates were calculated. The time trend and the average percentage change were analyzed using Joinpoint regression. Standardized morbidity ratios were calculated and mapped by province. A total of 960 FMF-related hospitalizations (52% men) were identified across the period 2008-2015, with an increase in hospitalizations of 4.9% per year being detected (p 1) in 13 provinces (5 in the Mediterranean area), and lower (SMR < 1) in 14 provinces (3 in the Mediterranean area). There was an increase in hospitalizations of patients with FMF in Spain throughout the study period, with a risk of hospitalization that was higher, though not exclusively so, in provinces along the Mediterranean coast. These findings contribute to the visibility of FMF and provide useful information for health planning. Further research should take into account new population-based information, in order to continue monitoring this disease.S

Evaluación de la eficacia de las intervenciones psicoeducativas en los trastornos del espectro autista

Este proyecto ha sido financiado por el Fondo de Investigaciones Sanitarias del Instituto de Salud Carlos III en el Programa de Promoción de la Investigación Biomédica y en Ciencias de la Salud para la realización de estudios de investigaciones sobre evaluación de tecnologías sanitarias e investigación en servicios de salud en el marco del Plan Nacional I+D+I 2004-2007, durante el año 2007, con el número de proyecto PI 07/90613.El objetivo prioritario de la presente revisión sistemática es analizar el esta doactual del conocimiento en relación a las intervenciones psicoeducativas en atención temprana en niños con un diagnóstico del espectro autista. Para ello se pretenden analizar las revisiones sistemáticas publicadas entre enero de 2000 y enero de 2009, y cuyo objetivo prioritario haya sido evaluar la efectividad y/o la eficacia de las intervenciones psicoeducativas para la mejora de cualquiera de los síntomas del espectro autista. Teniendo en cuenta este objetivo global, se pueden desprender del mismo algunos objetivos específicos que nos permitirán hacer un análisis pormenorizado de los resultados obtenidos a partir de la literatura