Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns.

BACKGROUND: Huntington's disease (HD) is a progressive neurodegenerative condition characterized by chorea, dystonia, behavioral disturbances and cognitive decline. The aim of this study is to assess temporal and spatial changes on mortality attributable to HD over 30 years in Spain. METHODS: HD data were extracted from the nationwide mortality registry for the period 1984-2013. Annual and 5-year gender- and age-specific rates adjusted for the standard European population were calculated. Geographic analysis was performed by districts from 1999 through 2013, and then estimated standardized mortality ratios (SMRs) and smoothed SMRs. RESULTS: There were 1,556 HD-related deaths across the study period. An increasing trend in age-adjusted HD mortality was in evidence, specifically from 1994 through 1998. On a year-by-year basis, age-adjusted mortality rates increased from 0.076 per 100,000 population in 1984 to 0.157 in 2013. Geographical differences among districts were evident in specific areas and in the southwest of Spain with a significantly higher HD mortality risk. CONCLUSION: HD mortality rising trends in Spain might be attributable to improvements in diagnosis leading to a rise in prevalence. Geographical variability in HD mortality could be related to regional differences in disease prevalence, health-care disparities, or other factors which call for in-depth assessment in future studies.

Registros de enfermedades respiratorias integrados en el Registro Nacional de Enfermedades Raras / Respiratory Diseases Registries in the National Registry of Rare Diseases

En el presente trabajo se describen las características generales, objetivos y aspectos organizativos de los registros de enfermedades respiratorias minoritarias integrados en el Registro Nacional de Enfermedades Raras del Instituto de Investigación de Enfermedades Raras (IIER), con el objetivo de dar a conocer su existencia y fomentar la participación de los profesionales. Se recoge información sobre registros de las siguientes enfermedades: déficit de alfa-1 antitripsina, estenosis traqueal idiopática, histiocitosis pulmonar de células de Langerhans del adulto, linfangioleiomiomatosis, proteinosis alveolar y sarcoidosis

This report describes the general characteristics, objectives, and organizational aspects of the registries of minority respiratory diseases included in the National Registry of Rare Diseases of the Research Institute for Rare Diseases (ISCIII), in order to publicize their existence and encourage the participation of professionals. Information is collected on the following conditions: alpha-1 antitrypsin deficiency, idiopathic tracheal stenosis, adult pulmonary Langerhans’ cell histiocytosis, lymphangioleiomyomatosis, alveolar proteinosis, and sarcoidosis (AU)

Respiratory diseases registries in the national registry of rare diseases.

This report describes the general characteristics, objectives and organizational aspects of the registries of rare respiratory diseases included in the National Registry of Rare Diseases of the Research Institute for Rare Diseases (ISCIII), in order to publicize their existence and encourage the participation of professionals. Information is collected on the following conditions: alpha-1 antitrypsin deficiency, idiopathic tracheal stenosis, adult pulmonary Langerhans' cell histiocytosis, lymphangioleiomyomatosis, alveolar proteinosis, and sarcoidosis.

Rare diseases epidemiology research.

Rare Diseases Epidemiology is a novel action field still largely unexplored. However, Rare Diseases is a topic of growing interest at world level. The aims of this chapter are to revise useful epidemiological tools and define areas where epidemiology can help improve the rare disease knowledge, and facilitate policy decisions taking into account the real burden of rare diseases in society. This chapter also seeks to describe: the problems of coding and classification of diseases, measuring disease frequency, the study designs and association studies, the causality, the evolution from descriptive to epigenetic epidemiology and the natural history of disease. One of the major challenges facing analytical epidemiology and clinical epidemiological research into rare diseases is that genes can be involved in both aetiology and prognosis. Despite the many similarities between genetic association studies and classic observational epidemiological studies, the former pose several specific limitations, including an unprecedented volume of new data and the likelihood of very small individual effects, as well other limitations. Selecting the appropriate pathway from among all those available, i.e. the one that best relates genes from the various known regions and disease mechanisms, is crucial for the success of this type of studies.

High prevalence of cardiovascular risk in patients with toxic oil syndrome: a comparative study using the general Spanish population.

BACKGROUND: The objective of this study was to compare current prevalence of major cardiovascular risk factors (CRF) between a cohort of patients affected by the toxic oil syndrome (TOS) epidemic, which occurred in Spain in 1981, and the unaffected Spanish population. METHODS: This was a case-referent study covering 1276 TOS cases and a referent population of 2843 (aged 35-65 years) using data collected from 1996 to 2003. Study variables were high blood pressure, hyperglycemia, dyslipemia, obesity, and metabolic syndrome. Smoking habit, alcohol intake, family and personal history of ischemic heart disease, as well as a personal history of cerebrovascular disease were also assessed in TOS patients. RESULTS: Compared to the general population, TOS patients registered a threefold rise in prevalence of diabetes, a 2.57-fold increase in hypertension, a 1.38-fold increase in total hypercholesterolemia, a 1.20-fold increase in hyper-LDL-cholesterolemia, and a high prevalence of metabolic syndrome (35% versus 25%). Nevertheless, the prevalence of hypo-HDL-cholesterolemia was significantly lower in those affected by TOS. No differences were found for other CRFs. CONCLUSION: Compared to the general population, cases display a much higher prevalence of all major CRFs. However, an increase in HDL-cholesterol protective factor is in evidence for the first time.