Políticas públicas en trasplante de órganos, tejidos y células: una evaluación de la actividad de trasplante de Células Progenitoras Hematopoyéticas (CPH) en personas no emparentadas / Public policies in transplantation of organs, tissues and cells: an evaluation of the transplant activity of Hematopoietic Progenitor Cells (HPC) in unrelated people

El Trasplante de Células Progenitoras Hematopoyéticas con donante no emparentado (TCPH NE) se inicia en Argentina en el sub sector privado, constituyéndose desde el año 2003 en política pública del Estado. El estudio multicéntrico tiene una perspectiva histórica/política, utilizando metodología evaluativa observacional y combinando técnicas cuantitativas y cualitativas, con diseño retrospectivo-longitudinal. La investigación centró su análisis en el diseño, implementación y resultados de las acciones llevadas adelante por el INCUCAI con relación a los TCPH NE en el período 2003-2015. El objetivo del estudio fue analizar y evaluar la política de TCPH NE que desarrolló el Estado Nacional en el período 2003- 2015. La muestra se constituyó con cinco efectores de salud con unidades de trasplante del ámbito público y privado en Provincia de Buenos Aires y Ciudad Autónoma de Buenos Aires. Algunas de las dimensiones analizadas fueron el proceso previo a la constitución del Registro, los marcos normativos que regulan la actividad, la ampliación de la red de atención, la cobertura y financiamiento, el perfil demográfico y las condiciones de accesibilidad. Los principales resultados arriban a considerar que la regulación del Estado en la actividad trasplantológica a partir de la creación del RND (Registro Nacional de Donantes) de CPH, favoreció la disminución de la inequidad en el acceso a la práctica terapéutica para la población sin cobertura formal. Posibilitó la estandarización de protocolos y procedimientos para la práctica de trasplante fortaleciendo los canales de articulación institucional regional y mundial y el ingreso del RND en el BMDW. Ello posibilitó el incremento de donantes argentinos a nivel mundial. Por otro parte, los tiempos de resolución entre el diagnóstico y la consecución de CPH, aún con la creación del Registro Nacional de Donantes, ofrece dificultades en relación a la necesidad de las prácticas de trasplante de los sujetos

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.

Effects of toxic oil syndrome on the psychological conditions of the descendants of affected persons.

OBJECTIVE: In May 1981, the Toxic Oil Syndrome (TOS) affected over 20,000 people, in Spain, as a result of the ingestion of rapeseed oil that had been denatured with 2% aniline. Amongst many physical and organic problems, many patients in this cohort showed different degrees of anxiety and depression. It can be hypothesized that their children might well be susceptible to suffer from anxiety, depression and other psychological disturbances. METHODS: Children with a father and/or mother included in the official TOS census, who were born between 1st January 1983 and 31st December 1989 and resided in Madrid (n. 420, response rate 84%), were compared against high-school children of TOS-free parents of the same age and similar socioeconomic status (n. 327). DATA COLLECTION: Spanish version of Goldberg and Hillier's General Health Questionnaire (GHQ-60) and Cattell's High School Personality Questionnaire (HSPQ). RESULTS: The only statistically significant difference between the two groups was the sleep disturbance factor of the GHQ-60 questionnaire. Significant differences were not observed in any of the personality factors (such as anxiety, depression, excitability and introversion) analysed by the HSPQ questionnaire when the exposed group was considered as a whole. However, in the replies to the HSPQ questionnaire, some statistically significant differences between exposed and non exposed children were detected in analyses carried out separately in each sex. CONCLUSIONS: The results of this study tend to rule out any impairment of the mental health of children born from parents who had been TOS victims.

[Prevalence of cardiovascular risk factors in a cohort of affected by the toxic oil syndrome]. / Prevalencia de factores de riesgo cardiovascular en una cohorte de afectados por el síndrome del aceite tóxico.

BACKGROUND AND OBJECTIVE: During the first stages of the toxic oil syndrome (TOS), elevations of the blood pressure as well as increases in the cholesterol, glucose and triglycerides levels were reported. Here we analyze these cardiovascular risk factors in the chronic phase of the illness and their distribution according to the severity of the illness. We also compare them with those found in the general population. PATIENTS AND METHOD: We studied a sample of 1,862 individuals aged between 35 and 65 years. A medical examination was performed in each and blood pressure, weight, height, tobacco consumption, cholesterol, glucose and triglycerides levels were measured. RESULTS: The prevalence of high blood pressure (>140/90 mmHg) was 46.1% and the prevalence of diabetes mellitus (>126 mg/dl) was 9.1%. The prevalence of obesity (BMI>30) was 24.9%. 11.8% of patients had hypertriglyceridemia (>200 mg/dl) and 19.8% had hypercholesterolemia (>250 mg/dl). 37.9% were smokers. The standardized prevalence rate (SPR) of high blood pressure was 1.35 (95% CI, 1.28-1.44); tobacco consumption SPR=1.27 (95% CI, 1.20-1.36); hypercholesterolemia SPR=1.10 (95% CI, 1.01-1.21). The prevalence of risk factors was higher among the most seriously affected subjects. CONCLUSIONS: The chronic phase of TOS is characterized by a high prevalence of cardiovascular risk factors, which was significantly higher than that expected in the general population.

Prevalencia de factores de riesgo cardiovascular en una cohorte de afectados por el síndrome del aceite tóxico / Prevalence of cardiovascular risk factors in a cohort of affected by the toxic oil syndrome

FUNDAMENTO Y OBJETIVO: En las primeras fases del síndrome del aceite tóxico (SAT) se ha descrito la elevación de las cifras de la presión arterial, de la concentración de colesterol, de la glucemia y de los triglicéridos. Hoy las enfermedades cardiovasculares son su principal causa de muerte. Pretendemos describir los factores de riesgo cardiovascular en la fase crónica de la enfermedad y su distribución según gravedad de la enfermedad, y compararlos con la población general. PACIENTES Y MÉTODO: Se ha estudiado a 1.862 sujetos con edades comprendidas entre 35 y 65 años. Se les realizó una exploración médica y se midieron las variables presión arterial, peso, talla, tabaquismo, colesterol, glucemia y triglicéridos. RESULTADOS: La prevalencia de hipertensión arterial (definida por presión arterial superior a 140/90 mmHg) fue del 46,1 por ciento, y la de diabetes mellitus (definida por glucemia mayor de 126 mg/dl), del 9,1 por ciento. La prevalencia de obesidad (índice de masa corporal superior a 30 kg/m2) fue del 24,9 por ciento; la de hipertrigliceridemia (concentración de triglicéridos superior a 200 mg/dl), del 11,8 por ciento, y la de hipercolesterolemia (concentración de colesterol mayor de 250 mg/dl), del 19,8 por ciento. El porcentaje de fumadores fue del 37,9 por ciento. La razón de prevalencia estandarizada para hipertensión fue de 1,35 (intervalo de confianza [IC] del 95 por ciento, 1,28-1,44), para tabaquismo de 1,27 (IC del 95 por ciento, 1,20-1,36) y para hipercolesterolemia de 1,10 (IC del 95 por ciento, 1,01-1,21).La prevalencia de factores de riesgo fue mayor en los enfermos graves. CONCLUSIONES: La fase crónica del SAT se caracteriza por una elevada prevalencia de factores de riesgo cardiovascular, mayor de lo esperado para la población general (AU)

Neurologic outcomes of toxic oil syndrome patients 18 years after the epidemic.

Toxic oil syndrome (TOS) resulted from consumption of rapeseed oil denatured with 2% aniline and affected more than 20,000 persons. Eighteen years after the epidemic, many patients continue to report neurologic symptoms that are difficult to evaluate using conventional techniques. We conducted an epidemiologic study to determine whether an exposure to toxic oil 18 years ago was associated with current adverse neurobehavioral effects. We studied a case group of 80 adults exposed to toxic oil 18 years ago and a referent group of 79 adult age- and sex-frequency-matched unexposed subjects. We interviewed subjects for demographics, health status, exposures to neurotoxicants, and responses to the Kaufman Brief Intelligence Test (K-BIT), Programa Integrado de Exploracion Neuropsicologica (PIEN), and Goldberg depression questionnaires and administered quantitative neurobehavioral and neurophysiologic tests by computer or trained nurses. The groups did not differ with respect to educational background or other critical variables. We examined associations between case and referent groups and the neurobehavioral and neurophysiologic outcomes of interest. Decreased distal strength of the dominant and nondominant hands and increased vibrotactile thresholds of the fingers and toes were significantly associated with exposure to toxic oil. Finger tapping, simple reaction time latency, sequence B latency, symbol digit latency, and auditory digit span were also significantly associated with exposure. Case subjects also had statistically significantly more neuropsychologic symptoms compared with referents. Using quantitative neurologic tests, we found significant adverse central and peripheral neurologic effects in a group of TOS patients 18 years after exposure to toxic oil when compared with a nonexposed referent group. These effects were not documented by standard clinical examination and were found more frequently in women.