Facies generadoras de carbón en el Westfaliense superior de la Cuenca Carbonífera Central Asturiana

La Cuenca Carbonífera Central Asturiana constituye una cuenca de antepais individualizada en la Zona Cantábrica durante el Carbonifero Superior coincidiendo con la máxima actividad de la orogenia Hercinica. Durante el Westfaliense, se acumularon en ella importantes volúmenes de material clástico procedentes de los relieves en elevación situados al W. Los abanicos aluviales costeros constituyeron unos sistemas deposicionales muy eficientes en la dispersión de estos materiales, generaron extensas cuñas clásticas en relación con las cuales se originaron capas de carbón explotables. En este trabajo se estudian varios litosomas de edad Westfaliense Superior que representan episodios progradantes de estos sistemas sobre ambientes marinos someros v de transición. El análisis e interpretación de sus facies y geometrías permite la reconstrucción de las condiciones ambientales en que se generaron las capas de carbón asociadas a cada una de las unidades estudiadas. Estas se desarrollaron: 1) en zonas marginales a los lóbulos progradantes y zonas interlóbulos y 2) sobre los mismos una vez que éstos fueron abandonados y previamente a su enterramiento

Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

Background: The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. Case presentation: The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1). Conclusion: Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected

El Proyecto REGENTE

Con el fin de establecer una cartografía europea unificada, se hace indispensable la conversión de las coordenadas de los Marcos de los Sistemas Geodésicos Nacionales al Marco ETRF89, lo cual sólo es posible a través de la determinación de tansformaciones y superficies de ajuste desde uno a otro marco. Tal determinación requiere el conocimiento de ambas clases de coordenadas en un número muy elevado de estaciones uniformemente distribuidas, debiendo este número ser tanto mayor cuantas mas irregularidades presente el Marco local. En el caso de la Península y Archipiélagos, el IGN decidió resolver el problema mediante el Proyecto REGENTE (Red Geodésica Nacional por Técnicas Espaciales), consistente en el establecimiento de una densa red GPS de alta precisión con estaciones coincidentes con vértices de ROI y con clavos de lineas NAP. La densidad media quedó fijada en una estación por Hoja del MTN escala 1:50.000, es decir, de una estación por cada 300 km2. REGENTE quedará perfectamente enlazada con la red de referencia europea ETRF89 por medio de las redes ibéricas IBERIA95 y BALEAR98. REGENTE Canarias se apoya, como estación de referencia, en la estación GPS de Maspalomas, incluida en la red ITRF93

Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

Abstract Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. Case presentation The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1). Conclusion Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected.</p

Continuous intestinal infusion of levodopa-carbidopa in patients with advanced Parkinson's disease in Spain: Subanalysis by autonomous community

[ES] Objetivos: Comparar las características de los pacientes con enfermedad de Parkinson avanzada en tratamiento con infusión intestinal continua de levodopa-carbidopa (IICLC) y los datos de efectividad y seguridad de IICLC entre diferentes comunidades autónomas (CC. AA.). Métodos: Estudio longitudinal observacional y retrospectivo. Se incluyeron 177 pacientes de 11 CC. AA. que iniciaron tratamiento con IICLC entre enero de 2006 y diciembre de 2011. Se compararon las características clínicas y demográficas, las variables de efectividad (cambios en el tiempo OFF, ON con y sin discinesias discapacitantes, cambios en la escala de Hoehn y Yahr y puntuación de la Unified Parkinson's Disease Rating Scale, síntomas no motores e Impresión Clínica Global) y seguridad (acontecimientos adversos), y la tasa de suspensión de IICLC. Resultados: Se hallaron diferencias significativas entre las CC. AA. en diversas variables basales: duración de la enfermedad hasta el inicio de IICLC, tiempo OFF (34,9-59,7%) y ON (con o sin discinesias; 2,6-48,0%), Hoehn y Yahr en ON, Unified Parkinson's Disease Rating Scale-III en ON y OFF, presencia de ≥ 4 síntomas motores y dosis de IICLC. En el seguimiento (> 24 meses en 9 de 11 CC. AA.) hubo diferencias significativas en el porcentaje de tiempo OFF, tiempo ON sin discinesias discapacitantes, frecuencia de acontecimientos adversos e Impresión Clínica Global. La tasa de suspensión fue de entre 20-40% en todas las CC. AA., excepto en 2 (78 y 80%). Conclusiones: Este estudio muestra una amplia variabilidad en la selección de los pacientes y en la efectividad y seguridad de IICLC entre las diferentes CC. AA. Podrían influir las características basales de los pacientes, la disponibilidad de un equipo multidisciplinar y la experiencia clínica.[EN] Objectives: To compare the characteristics of patients undergoing treatment with continuous intestinal infusion of levodopa-carbidopa (CIILC) for advanced Parkinson's disease and the data on the effectiveness and safety of CIILC in the different autonomous communities (AC) of Spain. Methods: A retrospective, longitudinal, observational study was carried out into 177 patients from 11 CAs who underwent CIILC between January 2006 and December 2011. We analysed data on patients’ clinical and demographic characteristics, variables related to effectiveness (changes in off time/on time with or without disabling dyskinesia; changes in Hoehn and Yahr scale and Unified Parkinson's Disease Rating Scale scores; non-motor symptoms; and Clinical Global Impression scale scores) and safety (adverse events), and the rate of CIILC discontinuation. Results: Significant differences were observed between CAs for several baseline variables: duration of disease progression prior to CIILC onset, off time (34.9-59.7%) and on time (2.6-48.0%; with or without disabling dyskinesia), Hoehn and Yahr score during on time, Unified Parkinson's Disease Rating Scale-III score during both on and off time, presence of ≥ 4 motor symptoms, and CIILC dose. Significant differences were observed during follow-up (> 24 months in 9 of the 11 CAs studied) for the percentage of off time and on time without disabling dyskinesia, adverse events frequency, and Clinical Global Impression scores. The rate of CIILC discontinuation was between 20-40% in 9 CAs (78 and 80% in remaining 2 CAs). Conclusions: This study reveals a marked variability between CAs in terms of patient selection and CIILC safety and effectiveness. These results may have been influenced by patients’ baseline characteristics, the availability of multidisciplinary teams, and clinical experience.AbbVie Spain, S. L. U. financió este estudio, fue responsable del diseño y coordinó la recogida de datos

Trends in disease mortality before and during the Great Recession in individuals employed in Spain in 2001

Background: Previous studies on economic recessions and mortality due to cancer and other chronic diseases have yielded inconsistent findings. We investigated the trend in all-disease mortality and mortality due to several specific diseases before and during the Great Recession of 2008 in individuals who were employed in 2001, at the beginning of follow-up. Methods: We follow in a nationwide longitudinal study over 15 million subjects who had a job in Spain in 2001. The analysed outcomes were mortality at ages 25–64 years due to all diseases, cancer and other chronic diseases. We calculated annual mortality rates from 2003 to 2011, and the annual percentage change (APC) in mortality rates during 2003–07 and 2008–11, as well as the effect size, measured by the APC difference between the two periods. Results: All-disease mortality increased from 2003 to 2007 in both men and women; then, between 2008 and 2011, all-disease mortality decreased in men and reached a plateau in women. In men, the APC in the all-disease mortality rate was 1.6 in 2003–07 and −1.4 in 2008–11 [effect size −3.0, 95% confidence interval (CI) −3.7 to −2.2]; in women it was 2.5 and −0.3 (effect size −2.8, 95% CI −4.2 to −1.3), respectively. Cancer mortality and mortality due to other chronic diseases revealed similar trends. Conclusions: In the group of individuals with a job in 2001 the Great Recession reversed or stabilized the upward trend in all-disease mortality.This work was supported by a grant from the Instituto de Salud Carlos III (PI16/00455) and the European Regional Development Fund

Impact of Disease Duration in Effectiveness of Treatment with Levodopa-Carbidopa Intestinal Gel and Factors Leading to Discontinuation

[Background] Levodopa-carbidopa intestinal gel (LCIG) is effective in the treatment of advanced Parkinson’s disease (PD). However, the patients’ profile that might benefit from treatment with LCIG has not been characterized.[Objective]This retrospective study explored the influence of disease duration (DD) on the effectiveness of LCIG and identified factors associated with treatment discontinuation in a cohort of advanced PD patients.[Methods] Patients initiating LCIG therapy between Jan-2006 and Dec-2011 in 18 Spanish centers were included. Effectiveness in treating motor symptoms (MSs), non-motor symptoms (NMSs), and adverse events (AEs) occurrence was compared in DD≥10 or <10 years and LCIG continuation/discontinuation groups. Factors associated with LCIG discontinuation were evaluated using univariate and multivariate analyses.[Results] Overall, 177 PD patients were included (52.5% male; mean age 70.6±8.4 years; mean LCIG duration 35.6±18.6 months). Patients with DD≥10 years (n = 125) experienced less reduction in “off” time (–29%) than those with DD <10 years (–38%; n = 51; p = 0.021), and reported more severe AEs (32.8% vs. 17.6%; p = 0.043). DD did not significantly influence changes in NMSs or discontinuation rates. Fifty-four patients discontinued LCIG therapy, factors associated with discontinuation were higher percentages of waking day in the “off” state (OR, 1.028; 95% CI, 1.002–1.055; p = 0.0360) and in the “on” state with troublesome dyskinesia (OR, 1.032; 95% CI, 1.002–1.064; p = 0.0376) at baseline.[Conclusions] Advanced PD patients with DD <10 years might benefit more from treatment with LCIG than patients with a longer DD. Although MSs severity at baseline was statistically associated with LCIG discontinuation, the probability was very low with little clinical significance

Estudio de cohortes en atención primaria sobre la evolución de sujetos con prediabetes (PREDAPS): Fundamentos y metodología

The PREDAPS study aims to determine the risk of developing diabetes and the risk of vascular complications in patients with prediabetes and identify factors associated with those risks. It is a prospective observational study of a cohort of 1184 subjects with prediabetes and another cohort of 838 subjects with no alterations in glucose metabolism. The data at baseline were obtained from patients attending primary care centers in Spain throughout 2012. Subjects with prediabetes were classified into three groups: those who had only altered the fasting blood glucose levels -between 100 and 125mg/dl-, those who had only altered the HbA1c level -between 5.7 and 6.4% - and those who had altered both parameters. Information on sociodemographic characteristics, personal and family history, lifestyle and drug therapy was obtained from medical records and the interview with the doctor in the consultation. It was also performed a physical examination to determine weight, height, waist circumference and blood pressure were performed and blood and urine analysis. The PREDAPS study may help to reduce uncertainty in individual prevention strategies in subjects with prediabetes. Annual monitoring of patients recruited for five years will enable to know the risk of developing diabetes type 2 and the risk of macro-and microvascular complications in the three groups of subjects with prediabetes and determine the factors associated with those risks.El estudio PREDAPS pretende determinar el riesgo de desarrollo de diabetes y aparición de complicaciones vasculares en sujetos con prediabetes e identificar los factores asociados. Se trata de un estudio observacional de seguimiento de una cohorte de 1.184 sujetos con prediabetes y otra cohorte de 838 sujetos sin alteraciones en el metabolismo de la glucosa. Los datos de la etapa basal se obtuvieron de pacientes que acudieron a centros de Atención Primaria en España a lo largo del año 2012. Los sujetos con prediabetes fueron clasificados en tres grupos: aquellos que sólo tenían alteradas las cifras de glucemia en ayunas -entre 100 y 125 mg/dl-, aquellos que sólo tenían alterado el nivel de HbA1c -entre 5,7 y 6,4%- y aquellos que tenían alterados ambos parámetros. La información sobre sus características sociodemográficas, antecedentes familiares y personales, estilos de vida y tratamiento farmacológico se obtuvo de la historia clínica y de la entrevista realizada en la consulta por el médico. Se realizó un examen físico para determinar peso, talla, perímetro de la cintura y presión arterial y se realizaron análisis de sangre y orina. El estudio PREDAPS puede contribuir a disminuir la incertidumbre en las estrategias individuales de prevención en los sujetos con prediabetes. El seguimiento anual durante cinco años de los participantes posibilitará conocer el riesgo de desarrollo de diabetes mellitus tipo 2 y el de complicaciones macro y microvasculares en los tres grupos de sujetos con prediabetes, así como averiguar los posibles factores asociados a esos riesgos