[Prevalencia de la Telangiectasia Hemorrágica Hereditaria: estudio de base poblacional en la Comunitat Valenciana (España).] / Prevalence of Hereditary Hemorrhagic Telangiectasia: a population-based study in the Valencian region (Spain).

OBJECTIVE: The Hereditary Haemorrhagic Telangiectasia (HHT) is a low prevalence disease which presents heterogeneous signs and symptoms and just few population-based epidemiological studies are available. The aims of this paper were to describe the sociodemographic characteristics of people affected by HHT in the Valencian Region (VR), to determine its prevalence and mortality rate, and to analyse the sources of recruitment and verification tests used by the Rare Diseases Information System of the VR (SIER-CV). METHODS: Cross-sectional observational epidemiological study of HHT prevalent cases between 2010-2019 in SIER-CV was performed. The distribution of sociodemographic and clinical characteristics were determined, the prevalence and mortality rates, and the sources of recruitment and verification tests used by SIER-CV were analysed. Statistical analysis was performed using Stata (version 16.1) and Microsoft Excel Office. RESULTS: During 2010-2019, two hundred cases were identified, 55.5% were female. The mean ages were: 56.8 years at recruitment and 50.9 years at diagnosis. 48.4% of cases were diagnosed between thirty-six/sixty-four years of age. 25.5% died, with a mean age of 76.6 years, identifying statistically significant differences above the age of 64. The prevalence was 39.6/1,000,000 inhabitants and the crude mortality rate was 10.1/1,000,000 inhabitants. 95.5% of cases were recruited from the Hospital discharges database and the most frequent verification test was the clinical basis (45.7%). CONCLUSIONS: The increasing trend in prevalence coincides with a better knowledge of HHT, which favours its detection, and also with dying at older ages. To describe the situation of HHT in the VR facilitates its health management and contributes to the establishment of the relevant health policies for the HHT. The need to promote genetic diagnosis and to incorporate the Primary Care Clinical History as a source of recruitment in the population-based registries has been shown.

OBJECTIVE: La Telangiectasia Hemorrágica Hereditaria (THH) es una enfermedad de baja prevalencia, que se presenta con signos y síntomas muy heterogéneos y de la que apenas se dispone de estudios epidemiológicos de base poblacional. Los objetivos de este estudio fueron describir las características sociodemográficas de las personas afectadas por THH en la Comunitat Valenciana (CV), determinar su prevalencia y mortalidad, y analizar las fuentes de captación y pruebas de verificación utilizadas por el Sistema de Información de Enfermedades Raras de la CV (SIER-CV). METHODS: Se realizó un estudio epidemiológico observacional transversal de casos prevalentes de THH durante 2010-2019 en el SIER-CV. Se determinó la distribución de las características sociodemográficas y clínicas, la prevalencia y mortalidad, y se analizaron las fuentes de captación y pruebas de verificación utilizadas por SIER-CV. El análisis estadístico de los datos se realizó mediante el programa Stata (versión 16.1) y Microsoft Excel Office. RESULTS: Durante 2010-2019 se identificaron doscientos casos, de los que el 55,5% eran mujeres. Las edades medias fueron: de captación 56,8 años, y de diagnóstico 50,9 años. El 48,4% fueron diagnosticados entre los treinta y seis, y los sesenta y cuatro años. Fallecieron el 25,5%, con 76,6 años de edad media, identificándose diferencias estadísticamente significativas en mayores de sesenta y cuatro años. La prevalencia fue 39,6 por cada millón de habitantes y la tasa cruda de mortalidad de 10,1 por cada millón de habitantes. El 95,5% se captaron por el Conjunto Mínimo Básico de Datos y la prueba de verificación más frecuente fue la base clínica (45,7%). CONCLUSIONS: La tendencia ascendente de la prevalencia coincide con un mejor conocimiento de la THH, que facilita la detección de casos, y también con fallecimientos en edades avanzadas. Describir la situación de la THH en la CV facilita su manejo sanitario y contribuye al establecimiento de las políticas sanitarias correspondientes. Se muestra la necesidad de favorecer el diagnóstico genético e incorporar la Historia de Atención Primaria como fuente de captación en los registros poblacionales.

[Updating of the official statistics of deaths causes: "Let's get stronger after the COVID-19 pandemic".] / Actualización de la estadística oficial de defunciones por causas: "Salgamos reforzados tras la pandemia de la COVID-19".

The National Spanish Institute of Statistics (INE) website is the main means of communication for official statistics in Spain. The INE publishes the annual statistics of deaths according to the cause of death. This vital statistic has improved a lot in recent years; also, thanks to the collaboration from the Autonomous Communities. There are certain areas that could optimize its usefulness. Indicator improvements could include provisional case-counts by causes of death, besides the age-standardization of specified causes of death and the Potential Years of Life Lost by cause of death, for territorial comparison. Meanwhile, the usefulness of social indicators applied to the statistics of death causes could be enhanced, as is the case of education. By updating the databases, it would be possible to maintain the registries of deceased and their causes of death without an annual closure before the statistical publication. Moreover, we could link the databases of demographic records of the population to their health files, to obtain individually the people at risk of sickness or death, and to enable their respective vital, social, health trajectories for statistics. In this way, the INE would increase its leadership and reference on mortality statistics in Spain and EuroStat, as well. Furthermore, the State, Autonomous and municipal administrations could redefine their publication offer into a more specified or innovative statistics of death causes.

El portal del Instituto Nacional de Estadística (INE) es el principal medio de comunicación de la estadística oficial de España. El INE publica la estadística anual de defunciones según la causa de la muerte. Dicha estadística ha mejorado mucho en los últimos años; también, gracias a la colaboración con las Comunidades Autónomas. Existen determinadas áreas que podrían optimizar su utilidad. Entre las mejoras en los indicadores estadísticos podrían estar: los recuentos provisionales de casos por causas de muerte; la estandarización por edad para su comparación interterritorial de las causas específicas y de los años potenciales de vida perdidos según causa; además de la extensión territorial de los indicadores al municipio. A la vez que se podría reelaborar la utilidad de los indicadores sociales aplicados a la estadística de causas de muerte como es el caso de la educación. En la actualización de los registros, cabría: mantener las bases de datos de los fallecidos y sus causas sin el cierre anual tras la publicación estadística e interconectar los registros demográficos de población y los archivos sanitarios para poder disponer individualmente de las personas a riesgo de enfermar o morir, junto con sus respectivas trayectorias sociosanitarias y vitales. Así, el INE acrecentaría su liderazgo y utilidad en la estadística de mortalidad en España y ante EuroStat. Igualmente, las administraciones estatal, autonómica y municipal podrían redefinir su oferta de publicación a una estadística de mortalidad más específica o innovadora.

[Do women in the Valencian Community accept self-sampling as a form of cervical cancer screening?] / ¿Aceptan las mujeres de la Comunidad Valenciana la auto-toma como forma de cribado de cáncer de cérvix?

OBJECTIVE: The use of new devices such as the self-sampling for the determination of the Human Papilloma Virus (HPV), could facilitate the implementation of population screening programs and increase the participation of women. The objective of the study was to find out the women´s knowledge and attitudes towards cervical cancer screening as well as the acceptability of self-sampling. METHODS: Analytical cross-sectional study by telephone survey carried out on a random sample of 389 women from 35 to 65 years of age. The women were asked about their attitudes and knowledge of the screening and preference for HPV determination by self-sampling or by a healthcare professional. RESULTS: 86.9% of the women preferred self-sampling as a screening method and 93.3% had undergone a previous cervical cytology. 51.4% of the women had a high level of knowledge about cervical cancer screening. Younger women (POR 9.26; 95% CI 1.04-24.38), higher level of education (POR 4.6; 95% CI: 1.92-11.00), and higher level of knowledge (POR 2.78; 95% CI: 1.69-9.29), presented higher preferences for the determination of HPV by self-sampling. The trend in age, educational level and knowledge was the same for the prevalence of previous cervical cytology. CONCLUSIONS: The acceptance of self-testing as a method of cervical cancer screening is high among women. Efforts should be made to raise awareness among women to reduce possible inequalities in access and to encourage informed participation.

OBJETIVO: El uso de la auto-toma para determinación del Virus del Papiloma Humano (VPH), podría facilitar la implantación de los programas de cribado poblacional y aumentar la participación de las mujeres. El objetivo de estudio fue conocer los conocimientos y actitudes de las mujeres frente al cribado del cáncer de cérvix y la aceptación de la auto-toma como método de cribado para la detección del VPH. METODOS: Estudio transversal analítico mediante encuesta telefónica realizada a una muestra aleatoria de 389 mujeres entre 35 y 65 años de la Comunitat Valenciana. Se preguntó a las mujeres sobre prácticas preventivas previas, actitudes y conocimientos del cribado, y la preferencia por la determinación de VPH mediante auto-toma o por un profesional sanitario. RESULTADOS: El 86,9% de las mujeres encuestadas prefirieron la auto-toma como método de cribado y el 93,3% se habían realizado una citología cervical previa. El 51,4% de las mujeres tenían un nivel de conocimiento alto sobre el cribado del cáncer de cérvix. Las mujeres de menor edad (POR 9,26; IC95%1,04-24,38), mayor nivel de estudios (POR 4,6; IC95%:1,92-11,00), y mayor nivel de conocimientos (POR 2,78; IC95%:1,69-9,29), presentaron preferencias mayores por la determinación de VPH mediante auto-toma. La tendencia en la edad, nivel de estudios y conocimientos fue la misma para la prevalencia de realización de la citología cervical previa. CONCLUSIONES: La aceptación de la auto-toma como método de cribado del cáncer de cérvix es elevada entre las mujeres. Se deben dedicar esfuerzos para aumentar el conocimiento en las mujeres para reducir posibles desigualdades de acceso y fomentar una participación informada.

[Epidemiological surveillance of congenital heart defects: the Tetralogy of Fallot in the Valencian Region, 2007-2017.] / Vigilancia epidemiológica de las anomalías congénitas cardíacas: La tetralogía de Fallot en la Comunitat Valenciana, 2007-2017.

OBJECTIVE: Tetralogy of Fallot is characterized by the presence of four congenital heart defects. Objective: to describe the temporal trend and distribution of Tetralogy of Fallot, in children under one year in the Valencian Region. METHODS: Cases with Tetralogy of Fallot (code Q21.3 from the ICD10-British Paediatric Association) were selected from the Congenital Anomalies Population-based Registry between 2007-2017. Prevalence per 10,000 births with 95%CI was calculated, and a descriptive analysis of sociodemographic and clinical variables was made. RESULTS: 165 cases were identified (43.6% male, 30.9% female and 25.5% unknown). The overall prevalence was 3.1/10,000 births (95%CI:2.6-3.6), being 2015 and 2017 the years with the highest (4.3/10,000 births and 4.7/10,000 births respectively) and 2011 with the lowest (1.8/10,000 births). 72.1% were live births, 24.8% Termination of Pregnancy for Fetal Anomaly (TOPFA) and 3.0% stillbirths. The prevalence in live births was 2.2/10,000 births (95%CI:1.8-2.7) and in TOPFA it was 0.8/10,000 births (95%CI:0.5-1.0), identifying an increasing trend along the period in the last one. 10.1% of live births died during the first year of life and 55.8% were diagnosed prenatally. Mothers younger than 20 years had the highest prevalence (4.8/10,000 births). CONCLUSIONS: The prevalence obtained in the Valencian Region was slightly lower than EUROCAT's but coincides with that of the registries that are closer geographically, and in all of them it is noted that their increasing trend specifically affects cases ending in TOPFA.

OBJETIVO: La Tetralogía de Fallot está caracterizada por la presencia de cuatro anomalías congénitas cardíacas. El objetivo de este trabajo fue describir la tendencia temporal y distribución de la Tetralogía de Fallot en menores de un año en la Comunitat Valenciana. METODOS: Se seleccionaron los casos con Tetralogía de Fallot (código Q21.3 de la CIE10 de la Asociación Pediátrica Británica) nacidos entre 2007-2017 del Registro Poblacional de anomalías congénitas de la Comunitat Valenciana. Se calculó la prevalencia por 10.000 nacimientos con IC95% y se realizó un análisis descriptivo de las variables sociodemográficas y clínicas. RESULTADOS: Se identificaron 165 casos (43,6% niños, 30,9% niñas y 25,5% de sexo desconocido). La prevalencia global fue 3,1/10.000 nacimientos (IC95%:2,6­3,6), siendo los años de mayor prevalencia 2015 y 2017 (4,3/10.000 nacimientos y 4,7/10.000 nacimientos respectivamente) y 2011 el de menor (1,8/10.000 nacimientos). El 72,1% fueron nacidos vivos, el 24,8% Interrupciones Voluntarias del Embarazo y el 3,0% nacidos muertos. La prevalencia en nacidos vivos fue 2,2/10.000 nacimientos (IC95%:1,8-2,7) y en Interrupciones Voluntarias del Embarazo fue 0,8/10.000 nacimientos (IC95%:0,5-1,0), identificándose en la segunda una tendencia en aumento a lo largo del periodo. El 10,1% de nacidos vivos fallecieron durante el primer año de vida y el 55,8% se diagnosticaron prenatalmente. El grupo con mayor prevalencia fueron las embarazadas menores de 20 años (4,8/10.000 nacimientos. CONCLUSIONES: La prevalencia obtenida en la Comunitat Valenciana fue ligeramente inferior a la de EUROCAT pero coincide con la de registros próximos geográficamente, y en todos ellos destaca que su tendencia creciente afecta específicamente a casos que finalizan en Interrupciones Voluntarias del Embarazo.

[Perinatal mortality assessment in native and immigrant women: influence of exhaustiveness and quality of the registries]. / Evaluación de la mortalidad perinatal en mujeres autóctonas e inmigrantes: influencia de la exhaustividad y la calidad de los registros.

OBJECTIVE: To analyze the exhaustiveness and reliability of the data on perinatal mortality in two Spanish registries, namely, the National Statistics Institute and the Perinatal Mortality Registry of the Valencian Community and to calculate and compare the perinatal mortality rate (PMR) and its components in native and immigrant women, based on the cases reported to both registries in 2005 and 2006. METHODS: Perinatal mortality and its components were defined according to the World Health Organization's criteria. The magnitude of underreporting was calculated by taking into account the frequencies and percentages of deaths not declared for 2005-2006. Rates and their 95% confidence intervals were calculated and compared between native and immigrant women using data from both registries. RESULTS: Fetal and neonatal deaths were substantially underreported in the National Statistics Institute compared with the Perinatal Mortality Registry of the Valencian Community. Moreover, in the National Statistics Institute, some neonatal deaths among the offspring of immigrant women were misclassified as being of Spanish nationality. These two factors distorted the proportion of fetal and neonatal deaths in immigrant women, giving rise to an underestimation of the PMR and its components, since the rates obtained from the Perinatal Mortality Registry of the Valencian Community were higher in immigrant than in Spanish women, particularly among east-European and sub-Saharan women. CONCLUSIONS: Our results indicate that both registries are complementary. However, the Perinatal Mortality Registry of the Valencian Community was found to be more exhaustive and to have greater reliability. Our results also suggest the importance of monitoring trends in PMR in the immigrant population in Spain.

[Wilson disease: The look of medical staff, patients and family members]. / La enfermedad de Wilson: las diversas perspectivas del profesional sanitario, afectado y familiar.

OBJECTIVE: Wilson disease (WD) is a rare congenital disease that causes hepatic, neurological or lenticular degeneration due to the accumulation of copper. Sometimes it is incapacitating with implications in the quality of life of those affected and their families. The objective of this work was to identify the needs of medical staff and the social and emotional needs of patients with WD and their families. METHODS: A qualitative research was developed in the Valencian Region during 2015-2016, five interviews with medical staff and two focus groups were made, one with family members and another with patients using a script divided into: diagnosis, treatment, health care and quality of life. The information was collected in audio/video and transcribed. An analysis of discourse (professional vs family/affected) determining needs was made. RESULTS: Medical staff need more knowledge about this pathology. Better educational training for them would facilitate the diagnosis. Families and patients need more information about the guidelines for the treatment's administration and foods that should be excluded from the diet. The correct administration of the treatment will allow those affected to improve their quality of life with a total or partial recovery of their symptoms.. CONCLUSIONS: Peru has made significant progress in reducing chronic malnutrition in children, but it still represents a health problem due to high prevalence in the sierra and expansion to jungles districts in 2016. Policies and programs should continue and enhance to avoid the high burden of disease that generates malnutrition in the development of children.

OBJETIVO: La Enfermedad de Wilson (EW) es una patología rara congénita y hereditaria que se produce por acumulación de cobre en el organismo, degeneración crónica hepática, neurológica o lenticular. En ocasiones es incapacitante por lo que influye en la calidad de vida de afectados y familiares. El objetivo de este trabajo fue identificar las necesidades médicas, sociales y emocionales de pacientes y familiares. METODOS: Con metodología cualitativa se realizaron en la Comunitat Valenciana (CV), en 2015-2016, 5 entrevistas a profesionales sanitarios y 2 grupos de discusión, uno con familiares y otro con afectados. Se elaboró un guión estructurado en: diagnóstico, tratamiento, atención sanitaria y calidad de vida. La información se recogió en audio/video, previa autorización y se transcribió literalmente. Se realizó un análisis del discurso (profesionales vs. familiares/afectados) determinando necesidades y demandas concretas. RESULTADOS: Los profesionales se mostraron emocionalmente distantes de las necesidades emocionales de afectados y familiares y consideraron necesario disponer de mayor información para facilitar el diagnóstico precoz. Las familias expresaron preocupación sobre la adherencia al tratamiento, especialmente en adolescentes, y confusión sobre la importancia de seguir una dieta baja en cobre. Los afectados reconocieron tener dudas sobre la funcionalidad de la medicación. Los afectados neurológicamente se sintieron estigmatizados por las secuelas físicas de la enfermedad. CONCLUSIONES: Los sanitarios consideran que tener un mayor conocimiento sobre esta enfermedad facilitaría una detección precoz. Familiares y afectados necesitan indicaciones claras y especificadas sobre las pautas de administración del tratamiento y sobre los alimentos que deben excluir de la dieta.

[Guide to the principles and methods of health sentinel networks in Spain]. / Guía de principios y métodos de las redes centinelas sanitarias en España.

Health sentinel networks are being increasingly used in the study of health-related problems. The present article aims to provide a methodological guide - designed by regional sentinel network managers and based on the results of a Delphi study - that can be used to set up and develop a health sentinel network. The main topics in the guide are the following: definition of a health sentinel network; network description: aims and structure; methods for the selection of sentinel participants; description of health processes suitable for study through this methodology: incidence, case definition, exclusion and inclusion criteria; description of the target population: the denominator for incidence rates estimates; quality indicators; periodicity of data collection; dissemination of the information: periodicity and methods, and incorporation of the participants in the decision-making process through multidisciplinary commissions. This guide aims to contribute to the development of sentinel networks in the autonomous communities by providing a common methodology, which could be highly useful when introducing new networks in Spain. Finally, we conclude that it is important to raise awareness of the concept of health sentinel networks, disseminate the information generated, and promote its use by public health administration.

[Health sentinel networks in Spain. Consensus for a guide of principles and methods]. / Redes centinela sanitarias en España. Consenso para una guía de principios y métodos.

Since the eighties, health sentinel networks have been active in our country, but with a variety of objectives, methods and different development levels in the autonomous communities. The necessity of standardising the management and harmonising the indicators has concluded in a research project on the Spanish health sentinel networks, one of whose objectives is to establish a guide for work principles and methods. A panel of 23 experts has made a study using the Delphi method to agree, in three consecutive phases, a definition of sentinel network, the objectives and the management principles and other aspects related to the organisation and functioning. Altogether, 41 questions were gathered from a previous draft which needed 80% of consensus in the first phase and 70% in the second. All the experts participated in the first phase, 22 in the second and 20 in the third. A consensus was achieved on 36 questions in the first phase and in 4 of the remaining ones in the second. In the third phase the shape of the guide document was given. The Delphi consensus method has been extremely useful in the resolution of discrepancies and divergences. The experts who were selected outside of the sentinel networks contributed with a wider vision on the objectives and applicability of the health sentinel networks in Spain.

[Disease registries in the epidemiological researching of rare diseases in Spain]. / Los registros de enfermedades en la investigacion epidemiológica de las enfermedades raras en España.

BACKGROUND: The use of tools such as disease registries poses a problem in the case of rare diseases. This study is aimed at describing the current situation concerning rare disease registries in Spain. METHODS: The information provided by two Spanish health registries directories prepared by the Spanish Health Assessment Technologies Agencies are employed, a descriptive cross-sectional study being conducted. The registries identified in these directories has been classified as: (1) "Specific rare diseases" (2) "Unspecific but with information on rare disease and (3) "Non-informative regarding rare diseases". RESULTS: The 2000 directory listed 82 registries, 15.8% of which were classified under Group 1, whilst a total of 107 registries, 16.8% in Group 1, were identified in the 2005 review. The main health registries in Group 2, by topic, were: cancer, mortality, psychiatry and nephrology. No general rare disease registries were found in the directories. CONCLUSIONS: Although few in number, health registries do exist in Spain including information on rare diseases. Areas have been identified by topic lacking registries and also information systems or registries unidentified in the sources used. Continuing efforts must be made to improve the information available on rare diseases.

Algunos factores determinantes de la mortalidad infantil en España / Some factors determinants of the infant mortality in Spain

Se presenta un estudio ecológico realizado para España entre los años 1975 y 1979 intentando explicar la variación de la mortalidad infantil. Los factores socioeconómicos, tales como la renta familiar disponible (R2=0.44) y la renta per cápita, juegan un papel importante, mientras que los sanitarios representan un papel menor; las variables de utilización de recursos sanitarios son las que más relevancia han tenido de este grupo, tales como las consultas por habitante (coeficiente de regresión parcial de -0.15 y 0.14 en 1977 y 1978 respectivamente) y las actividades quirúrgicas; todo ello refleja a un país en cambio.

We introduce an ecological research for Spain between the 1975 and 1979, triyng to explain the variation of childhood mortality. The social-economical factor had an important weight, as the disponible familiar rent (R2=0.44) and the per capita rent, while the health factors had a least important influence. From this last group, the health resources utilization were the most important, as the consultation per habitant (partial regretion coeficient -0.15 and -0.14 in 1977 and 1978 respectively) and the surgery activities. Every this reflect a country in change.