Sistemas de Información epidemiológica para la Vigilancia de las Enfermedades Crónicas

Comunicación presentada en las II Jornada del Centro Nacional de Epidemiología - 2021.Se exponen los sistemas de información epidemiológica para vigilancia de las Enfermedades Crónicas del Centro Nacional de Epidemiología. son: Raziel, Ariadna, Informes, Atlas, tablas y diferentes Apps. El Sistema de Información Epidemiológica sobre Mortalidad de las Principales Enfermedades Crónicas en España (SIEMEC) y el Sistema de Información Epidemiológica del Cáncer en España (SIEC)

Association of socioeconomic deprivation with life expectancy and all-cause mortality in Spain, 2011-2013

Life tables summarise a population's mortality experience during a time period. Sex- and age-specific life tables are needed to compute various cancer survival measures. However, mortality rates vary according to socioeconomic status. We present sex- and age-specific life tables based on socioeconomic status at the census tract level in Spain during 2011-2013 that will allow estimating cancer relative survival estimates and life expectancy measures by socioeconomic status. Population and mortality data were obtained from the Spanish Statistical Office. Socioeconomic level was measured using the Spanish Deprivation Index by census tract. We produced sex- and age-specific life expectancies at birth by quintiles of deprivation, and life tables by census tract and province. Life expectancy at birth was higher among women than among men. Women and men in the most deprived census tracts in Spain lived 3.2 and 3.8 years less than their counterparts in the least deprived areas. A higher life expectancy in the northern regions of Spain was discovered. Life expectancy was higher in provincial capitals than in rural areas. We found a significant life expectancy gap and geographical variation by sex and socioeconomic status in Spain. The gap was more pronounced among men than among women. Understanding the association between life expectancy and socioeconomic status could help in developing appropriate public health programs. Furthermore, the life tables we produced are needed to estimate cancer specific survival measures by socioeconomic status. Therefore, they are important for cancer control in Spain.Instituto de Salud Carlos III (ISCIII): I18/01593 & CP17/00206-EU/FEDER. Asociación Española Contra el Cáncer (AECC): PROYE20023SÁNC and the Cancer Epidemiological Surveillance Subprogram (VICA) from the CIBER Epidemiología y Salud Pública (CIBERESP) from the Instituto de Salud Carlos III. Te funders had no role in the study design, data collection and analysis, decision to publish, or manuscript preparation.S

Evaluation of Feature Selection Techniques for Breast Cancer Risk Prediction

This study evaluates several feature ranking techniques together with some classifiers based on machine learning to identify relevant factors regarding the probability of contracting breast cancer and improve the performance of risk prediction models for breast cancer in a healthy population. The dataset with 919 cases and 946 controls comes from the MCC-Spain study and includes only environmental and genetic features. Breast cancer is a major public health problem. Our aim is to analyze which factors in the cancer risk prediction model are the most important for breast cancer prediction. Likewise, quantifying the stability of feature selection methods becomes essential before trying to gain insight into the data. This paper assesses several feature selection algorithms in terms of performance for a set of predictive models. Furthermore, their robustness is quantified to analyze both the similarity between the feature selection rankings and their own stability. The ranking provided by the SVM-RFE approach leads to the best performance in terms of the area under the ROC curve (AUC) metric. Top-47 ranked features obtained with this approach fed to the Logistic Regression classifier achieve an AUC = 0.616. This means an improvement of 5.8% in comparison with the full feature set. Furthermore, the SVM-RFE ranking technique turned out to be highly stable (as well as Random Forest), whereas relief and the wrapper approaches are quite unstable. This study demonstrates that the stability and performance of the model should be studied together as Random Forest and SVM-RFE turned out to be the most stable algorithms, but in terms of model performance SVM-RFE outperforms Random Forest.The study was partially funded by the “Accion Transversal del Cancer”, approved on the Spanish Ministry Council on the 11th October 2007, by the Instituto de Salud Carlos III-FEDER (PI08/1770, PI08/0533, PI08/1359, PS09/00773, PS09/01286, PS09/01903, PS09/02078, PS09/01662, PI11/01403, PI11/01889, PI11/00226, PI11/01810, PI11/02213, PI12/00488, PI12/00265, PI12/01270, PI12/00715, PI12/00150), by the Fundación Marqués de Valdecilla (API 10/09), by the ICGC International Cancer Genome Consortium CLL, by the Junta de Castilla y León (LE22A10-2), by the Consejería de Salud of the Junta de Andalucía (PI-0571), by the Conselleria de Sanitat of the Generalitat Valenciana (AP 061/10), by the Recercaixa (2010ACUP 00310), by the Regional Government of the Basque Country by European Commission grants FOOD-CT- 2006-036224- HIWATE, by the Spanish Association Against Cancer (AECC) Scientific Foundation, by the The Catalan Government DURSI grant 2009SGR1489. Samples: Biological samples were stored at the Parc de Salut MAR Biobank (MARBiobanc; Barcelona) which is supported by Instituto de Salud Carlos III FEDER (RD09/0076/00036). Furthermore, at the Public Health Laboratory from Gipuzkoa and the Basque Biobank. Furthermore, sample collection was supported by the Xarxa de Bancs de Tumors de Catalunya sponsored by Pla Director d’Oncologia de Catalunya (XBTC). Biological samples were stored at the “Biobanco La Fe” which is supported by Instituto de Salud Carlos III (RD 09 0076/00021) and FISABIO biobanking, which is supported by Instituto de Salud Carlos III (RD09 0076/00058).S

The JAK3Q988P mutation reveals oncogenic potential and resistance to ruxolitinib

T-cell acute lymphoblastic leukemia (T-ALL) arises from the malignant transformation of T-cell progenitors at various differentiation stages. Given that patients who relapse have a dismal prognosis, there is an urgent need to identify the molecular alterations that are present in such patients and promote leukemogenesis to implement personalized therapies with higher efficacy and fewer adverse effects. In the present manuscript, we identified the JAK3Q988P mutation in a T-ALL patient who did not achieve a durable response after the conventional treatment and whose tumor cells at relapse presented constitutive activation of the JAK/STAT pathway. Although JAK3Q988P has been previously identified in T-ALL patients from different studies, the functional consequences exerted by this mutation remain unexplored. Through the combination of different hematopoietic cellular models, we functionally characterize JAK3Q988P as an oncogenic mutation that contributes to leukemogenesis. Notably, JAK3Q988P not only promotes constitutive activation of the JAK/STAT pathway in the absence of cytokines and growth factors, as is the case for other JAK3 mutations that have been functionally characterized as oncogenic, but also functions independently of JAK1 and IL2RG, resulting in high oncogenic potential as well as resistance to ruxolitinib. Our results indicate that ruxolitinib may not be efficient for future patients bearing the JAK3Q988P mutation who instead may obtain greater benefits from treatments involving other pharmacological inhibitors such as tofacitinib.This work was supported in part by funds from Ministerio de Economía y Competitividad (SAF2015‐70561‐R; MINECO/FEDER, EU to J.F.‐P. and M.V.‐M.); Ministerio de Ciencia, Innovación y Universidades (RTI2018‐093330‐B‐I00; MCIU/FEDER, EU to J.F.‐P. and J.S.); Fundación Ramón Areces (CIVP19S7917 to J.F.‐P.); Comunidad de Madrid (B2017/BMD‐3778; LINFOMAS‐CM to J.F.‐P.); Asociación Española Contra el Cáncer (AECC, 2018; PROYE18054PIRI to J.F.‐P.);and Instituto de Investigación Sanitaria Fundación Jiménez Díaz to J.F.‐P.;institutional grants from the Fundación Ramón Areces and Banco de Santander to the CBMSO are also acknowledged.S

Rural-urban gradients and all-cause, cardiovascular and cancer mortality in Spain using individual data

The literature reporting on rural-urban health status disparities remains inconclusive. We analyzed data from a longitudinal population-based study using individual observations. Our results show that the risks of all-cause and cancer mortality are greater in large cities than in other municipalities, with no clear urban-rural gradient. Not differences were found among territories in cardiovascular mortality.This work was supported by the Institute of Health Carlos III (ISCIII), Ministry of Science and Innovation [grant number PI19CIII/00021 and FI17CIII/00003].S

Patterns of Differentially Expressed circRNAs in Human Thymocytes

Circular RNAs (circRNAs) are suggested to play a discriminative role between some stages of thymocyte differentiation. However, differential aspects of the stage of mature single-positive thymocytes remain to be explored. The purpose of this study is to investigate the differential expression pattern of circRNAs in three different development stages of human thymocytes, including mature single-positive cells, and perform predictions in silico regarding the ability of specific circRNAs when controlling the expression of genes involved in thymocyte differentiation. We isolate human thymocytes at three different stages of intrathymic differentiation and determine the expression of circRNAs and mRNA by RNASeq. We show that the differential expression pattern of 50 specific circRNAs serves to discriminate between the three human thymocyte populations. Interestingly, the downregulation of RAG2, a gene involved in T-cell differentiation in the thymus, could be simultaneously controlled by the downregulation of two circRNASs (hsa_circ_0031584 and hsa_circ_0019079) through the hypothetical liberation of hsa-miR-609. Our study provides, for the first time, significant insights into the usefulness of circRNAs in discriminating between different stages of thymocyte differentiation and provides new potential circRNA-miRNA-mRNA networks capable of controlling the expression of genes involved in T-cell differentiation in the thymus.This work was financed by grants from the Spanish Ministry of Science, Innovation and Universities (MCIU)(RTI2018- 093330-B-I00; MCIU/FEDER, EU), Ramón Areces Foundation (CIVP19S7917); Autonomous Community of Madrid, Spain (B2017/BMD-3778; LINFOMAS-CM); the Spanish Association Against Cancer (AECC, 2018; PROYE18054PIRI); and the Spanish Ministry (Juan de la Cierva Grant IJCI-2016-29155). Institutional grants from the Fundación Ramón Areces and Banco de Santander to the CBMSO are also acknowledged.S

Geographical variations in the risk of adverse birth outcomes in Spain

The objective of this study was to describe the spatial risk-patterns of prematurity and low birth weight in Spain. A descriptive spatial analysis of births registered in the Spanish Vital Statistics during 2004–2008 using municipalities as the observation unit was carried out. Besag-York-Mollié autoregressive spatial models were adjusted using the Integrated Nested Laplace approximation to calculate relative risks and posterior probabilities of having very and moderate preterm or low weight newborns. Results were represented in maps to assess geographic risk-patterns. Spatial analysis shows geographical variations in the risk of adverse reproductive outcomes in Spain highlighting three main high-risk zones, namely, municipalities in Asturias, Madrid City and Murcia. The specific risk patterns identified on each zone suggests some differences regarding the potential underlying risk factors and specific areas for future research. A differential exposure during pregnancy to some risks potentially related to industry or agriculture and other contextual factors could underlie an unequal vulnerability to adverse reproductive outcomes in some Spanish regions.Fondo de Investigación Sanitaria (PI081330); Spanish Ministry of Science and Innovation (SEJ 2005/07679); CIBER en Epidemiología y Salud Pública (CIBERESP), Spain.S

Association between residential proximity to environmental pollution sources and childhood renal tumors

FI=3.835 (año 2016), Q1Background: Few risk factors for childhood renal tumors are well established. While a small fraction of cases might be attributable to susceptibility genes and congenital anomalies, the role of environmental factors needs to be assessed. Objectives: To explore the possible association between residential proximity to environmental pollution sources (industrial and urban areas, and agricultural crops) and childhood renal cancer, taking into account industrial groups and toxic substances released. Methods: We conducted a population-based case-control study of childhood renal cancer in Spain, including 213 incident cases gathered from the Spanish Registry of Childhood Tumors (period 1996-2011), and 1278 controls individually matched by year of birth, sex, and region of residence. Distances were computed from the respective subject's residences to the 1271 industries, the 30 urban areas with ≥75,000 inhabitants, and the agricultural crops located in the study area. Using logistic regression, odds ratios (ORs) and 95% confidence intervals (95%CIs) for categories of distance to pollution sources were calculated, with adjustment for matching variables and socioeconomic confounders. Results: Excess risk (OR; 95%CI) of childhood renal tumors was observed for children living near (≤2.5km) industrial installations as a whole (1.97; 1.13-3.42) - particularly glass and mineral fibers (2.69; 1.19-6.08), galvanization (2.66; 1.14-6.22), hazardous waste (2.59; 1.25-5.37), ceramic (2.35; 1.06-5.21), surface treatment of metals (2.25; 1.24-4.08), organic chemical industry (2.22; 1.15-4.26), food and beverage sector (2.19; 1.18-4.07), urban and waste-water treatment plants (2.14; 1.07-4.30), and production and processing of metals (1.98; 1.03-3.82) -, and in the proximity of agricultural crops (3.16; 1.54-8.89 for children with percentage of crop surface ≥24.35% in a 1-km buffer around their residences). Conclusions: Our study provides some epidemiological evidence that living near certain industrial areas and agricultural crops may be a risk factor for childhood renal cancer.This study was funded by Spain's Health Research Fund (Fondo de Investigación Sanitaria - FIS 12/01416 and FIS CP11/00112).N