Registros y biobancos de enfermedades raras. Una oportunidad para avanzar

In recent years, rare disease (RD) registries and biobanks have arisen as key tools for research into this group of pathologies. This paper reviews the concept of registries and their value in the RD field, providing an overview of RD registries at a national and international level. Challenges and opportunities of the registries are also dealt with. Similarly, biobanks are presented as structures created to manage biological samples for their use in research. Ethical, legal and social issues related to the activity of biobanks and technical issues associated with harmonization, standardization and quality control of samples and related information are addressed. An overview of biobanks is offered, emphasizing their importance in the RD field and the need for collaboration with RD registries.Los registros y los biobancos de enfermedades raras se han convertido durante los últimos años en instrumentos clave para la investigación de este tipo de enfermedades. En el presente artículo se hace una revisión del concepto de registro y de la utilidad de los mismos en las enfermedades raras, se muestra un panorama de los registros de enfermedades raras en el ámbito internacional y nacional y se exponen los retos y las oportunidades que presentan los registros. Se presentan asimismo los biobancos como estructuras creadas con el fin de gestionar muestras biológicas para su uso en investigación. Se abordan los aspectos éticos, legales y sociales relacionados con la actividad de los biobancos y los aspectos técnicos asociados con la armonización, estandarización y control de calidad de las muestras y de la información relacionada y se ofrece un panorama general de los biobancos, recalcando su importancia en el ámbito de las enfermedades raras y la necesidad de colaboración con los registros de enfermedades raras

A corazón abierto: vivencias de madres y padres de menores con anomalías congénitas cardiacas

ResumenObjetivoExplorar con perspectiva de género las vivencias de madres y padres en los primeros momentos tras el diagnóstico de una anomalía congénita cardiaca en un/una hijo/a, integrando la visión de personal sanitario que atiende a estos/as menores y a sus familiares.MétodoEstudio de diseño cualitativo. Se realizaron cuatro entrevistas en profundidad a personal sanitario y cuatro grupos de discusión con madres y padres residentes en la Comunitat Valenciana. Los participantes se seleccionaron mediante muestreo intencionado. El análisis del discurso se trianguló entre ambas técnicas y entre investigadores, y se verificaron los resultados con madres, padres y profesionales sanitarios.ResultadosExisten diferencias entre madres y padres en la manera de expresar emocionalmente y afrontar el diagnóstico de una enfermedad grave en un/una hijo/a. Sin embargo, ambos progenitores manifiestan la necesidad de disponer de apoyo psicológico formal, y valoran positivamente el apoyo informal de otros/as padres/madres con vivencias similares.ConclusionesLa vivencia de la enfermedad en un/una hijo/a es diferente para madres y padres. Desde los servicios de salud debería prestarse atención al bienestar psicológico de las familias, incorporando los grupos de apoyo entre iguales y las asociaciones de pacientes como activos en salud.AbstractObjectiveTo explore, from a gender perspective, the experiences of mothers and fathers of children with congenital heart disease at the time of diagnosis, including the opinions of medical staff taking care of these children and their families.MethodsQualitative research. Four individual interviews with medical staff and four focus groups with mothers and fathers living in Valencia Region (Spain) were carried out. Participants were selected by purposive sampling. The discourse analysis was triangulated between techniques and researchers and the results were verified with mothers, fathers and medical staff.ResultsMothers and fathers differed in the way they expressed their emotions and in how they accepted the diagnosis of a serious illness in their child. However, both parents expressed the need for psychological support and highly appreciated the informal support from other parents with similar experiences.ConclusionsThe experience of the disease in a child is experienced differently by mothers and fathers. Health servies should pay attention to the psychological well-being of families, by including peer support groups and patient associations, which can play an important role as health assets

Trends in socioeconomic inequalities in amenable mortality in urban areas of Spanish cities, 1996-2007

Background: While research continues into indicators such as preventable and amenable mortality in order to evaluate quality, access, and equity in the healthcare, it is also necessary to continue identifying the areas of greatest risk owing to these causes of death in urban areas of large cities, where a large part of the population is concentrated, in order to carry out specific actions and reduce inequalities in mortality. This study describes inequalities in amenable mortality in relation to socioeconomic status in small urban areas, and analyses their evolution over the course of the periods 1996–99, 2000–2003 and 2004–2007 in three major cities in the Spanish Mediterranean coast (Alicante, Castellón, and Valencia). Methods: All deaths attributed to amenable causes were analysed among non-institutionalised residents in the three cities studied over the course of the study periods. Census tracts for the cities were grouped into 3 socioeconomic status levels, from higher to lower levels of deprivation, using 5 indicators obtained from the 2001 Spanish Population Census. For each city, the relative risks of death were estimated between socioeconomic status levels using Poisson’s Regression models, adjusted for age and study period, and distinguishing between genders. Results: Amenable mortality contributes significantly to general mortality (around 10%, higher among men), having decreased over time in the three cities studied for men and women. In the three cities studied, with a high degree of consistency, it has been seen that the risks of mortality are greater in areas of higher deprivation, and that these excesses have not significantly modified over time. Conclusions: Although amenable mortality decreases over the time period studied, the socioeconomic inequalities observed are maintained in the three cities. Areas have been identified that display excesses in amenable mortality, potentially attributable to differences in the healthcare system, associated with areas of greater deprivation. Action must be taken in these areas of greater inequality in order to reduce the health inequalities detected. The causes behind socioeconomic inequalities in amenable mortality must be studied in depth.This work was partly supported by the FIS-FEDER projects PI040170 and PI080330

Anàlisi espacial de la mortalitat a la Comunitat Valenciana

L’anàlisi espacial pot contemplar-se, en el context epidemiològic, com una ferramenta per a l’estudi de la distribució geogràfica d’un determinat problema de salut. Els estudis geogràfics sobre resultats en salut de la població són importants perquè poden contribuir a detectar diferències entre distintes regions, a establir patrons de distribució al llarg de la geografia d’un determinat territori o a localitzar unitats geogràfiques en situació de risc extrem o altres resultats d’interés

Treinta años de evolución de la mortalidad en la Comunitat Valenciana

Una sociedad más envejecida, el tabaquismo y las actuaciones y los programas preventivos, especialmente de prevención secundaria y la inclusión de nuevos tratamientos, son los factores más destacables que pueden haber influido en la evolución de la mortalidad en la Comunitat Valenciana en los treinta años transcurridos entre 1986 y 2015

Spatial Analysis of the Relationship between Mortality from Cardiovascular and Cerebrovascular Disease and Drinking Water Hardness

Previously published scientific papers have reported a negative correlation between drinking water hardness and cardiovascular mortality. Some ecologic and case–control studies suggest the protective effect of calcium and magnesium concentration in drinking water. In this article we present an analysis of this protective relationship in 538 municipalities of Comunidad Valenciana (Spain) from 1991–1998. We used the Spanish version of the Rapid Inquiry Facility (RIF) developed under the European Environment and Health Information System (EUROHEIS) research project. The strategy of analysis used in our study conforms to the exploratory nature of the RIF that is used as a tool to obtain quick and flexible insight into epidemiologic surveillance problems. This article describes the use of the RIF to explore possible associations between disease indicators and environmental factors. We used exposure analysis to assess the effect of both protective factors—calcium and magnesium—on mortality from cerebrovascular (ICD-9 430–438) and ischemic heart (ICD-9 410–414) diseases. This study provides statistical evidence of the relationship between mortality from cardiovascular diseases and hardness of drinking water. This relationship is stronger in cerebrovascular disease than in ischemic heart disease, is more pronounced for women than for men, and is more apparent with magnesium than with calcium concentration levels. Nevertheless, the protective nature of these two factors is not clearly established. Our results suggest the possibility of protectiveness but cannot be claimed as conclusive. The weak effects of these covariates make it difficult to separate them from the influence of socioeconomic and environmental factors. We have also performed disease mapping of standardized mortality ratios to detect clusters of municipalities with high risk. Further standardization by levels of calcium and magnesium in drinking water shows changes in the maps when we remove the effect of these covariates

Calidad y uso de los datos del Registro de Mortalidad de la Comunitat Valenciana

La creación del Registro de Mortalidad de la Comunitat Valenciana contribuyó a mejorar la fiabilidad y calidad de las estadísticas de mortalidad de la Comunitat Valenciana. A lo largo de los 30 años de existencia del Registro, este ha colaborado con el aporte de sus datos en 44 proyectos de investigación sobre el estudio de la salud de los valencianos

Regional variability in population acute myocardial infarction cumulative incidence and mortality rates in Spain 1997 and 1998

[Abstract] Background: Myocardial infarction (MI) incidence and mortality display a high geographic variation. Aims: The objective of the present study was to analyze MI mortality, cumulative incidence rate variability in seven regions of Spain from 1997 to 1998. Methods and Results: Standardized methods were used to identify, find, register, and classify MI cases that were classified as definite, possible, insufficient-dataMI, and non-MI. The total population of the seven monitored regions was 7,364,682 inhabitants. Of the 11,256 cases fulfilling eligibility criteria to investigate, 10,660 were selected to calculate MI rates: 6554 (61.5%)non-fatal definite MI, 1179 (11.1%)fatal definite MI, 1859 (17.4%)fatal possible MI, 1068 (10.0%)fatal cases with insufficient data. The IBERICA 25–74 years age-standardized cumulative incidence rates for men and women, were 207 (range: 175–252) and 45 (range: 36–65) per 100,000, respectively. The age-standardized mortality rates for men and women, were 73 (range: 62–94) and 20 (range: 13–29) per 100,000, respectively. Age-standardized case-fatality was 31.4 and 24.2% in men aged 25–74 and 35–64 years, respectively, and 32.7 and 27.0%, respectively, in women. Conclusions: MI cumulative incidence and mortality rates are low compared with other industrialized countries but, vary considerably among regions in a Mediterranean country like Spain.Cataluña. Comissió Interdepartamental de Recerca i Innovació Tecnològica; CIRIT/2001 SGR 00408Instituto de Salud Carlos III; FIS 96/0026-01 to 05Instituto de Salud Carlos III; FIS 97/1270Instituto de Salud Carlos III; FIS 98/153

Differences in breast cancer-risk factors between screen-detected and non-screen-detected cases (MCC-Spain study)

Purpose: The variation in breast cancer (BC)-risk factor associations between screen-detected (SD) and non-screen-detected (NSD) tumors has been poorly studied, despite the interest of this aspect in risk assessment and prevention. This study analyzes the differences in breast cancer-risk factor associations according to detection method and tumor phenotype in Spanish women aged between 50 and 69. Methods: We examined 900 BC cases and 896 controls aged between 50 and 69, recruited in the multicase-control MCC-Spain study. With regard to the cases, 460 were detected by screening mammography, whereas 144 were diagnosed by other means. By tumor phenotype, 591 were HR+, 153 were HER2+, and 58 were TN. Lifestyle, reproductive factors, family history of BC, and tumor characteristics were analyzed. Logistic regression models were used to compare cases vs. controls and SD vs. NSD cases. Multinomial regression models (controls used as a reference) were adjusted for case analysis according to phenotype and detection method. Results: TN was associated with a lower risk of SD BC (OR 0.30 IC 0.10-0.89), as were intermediate (OR 0.18 IC 0.07-0.44) and advanced stages at diagnosis (OR 0.11 IC 0.03-0.34). Nulliparity in postmenopausal women and age at menopause were related to an increased risk of SD BC (OR 1.60 IC 1.08-2.36; OR 1.48 IC 1.09-2.00, respectively). Nulliparity in postmenopausal women was associated with a higher risk of HR+ (OR 1.66 IC 1.15-2.40). Age at menopause was related to a greater risk of HR+ (OR 1.60 IC 1.22-2.11) and HER2+ (OR 1.59 IC 1.03-2.45) tumors. Conclusion: Reproductive risk factors are associated with SD BC, as are HR+ tumors. Differences in BC-risk factor associations according to detection method may be related to prevailing phenotypes among categories