An approach towards a harmonized framework for hydrographic features domain

We describe an ontology in the hydrographic domain, hydrOntology, which can be used to overcome the semantic heterogeneity of different databases and other information sources that deal with geographic information. We show that ontologies are richer than other means commonly used to represent geographic information, such as feature catalogues and thesauri, and how ontologies could be used to overcome some of the problems associated with them

Predictores de riesgo en una cohorte española con cardiolaminopatías. Registro REDLAMINA

[Abstract] Introduction and objectives. According to sudden cardiac death guidelines, an implantable cardioverter-defibrillator (ICD) should be considered in patients with LMNA-related dilated cardiomyopathy (DCM) and ≥ 2 risk factors: male sex, left ventricular ejection fraction (LVEF) < 45%, nonsustained ventricular tachycardia (NSVT), and nonmissense genetic variants. In this study we aimed to describe the clinical characteristics of carriers of LMNA genetic variants among individuals from a Spanish cardiac-laminopathies cohort (REDLAMINA registry) and to assess previously reported risk criteria. Methods. The relationship between risk factors and cardiovascular events was evaluated in a cohort of 140 carriers (age ≥ 16 years) of pathogenic LMNA variants (54 probands, 86 relatives). We considered: a) major arrhythmic events (MAE) if there was appropriate ICD discharge or sudden cardiac death; b) heart failure death if there was heart transplant or death due to heart failure. Results. We identified 11 novel and 21 previously reported LMNA-related DCM variants. LVEF < 45% (P = .001) and NSVT (P < .001) were related to MAE, but not sex or type of genetic variant. The only factor independently related to heart failure death was LVEF < 45% (P < .001). Conclusions. In the REDLAMINA registry cohort, the only predictors independently associated with MAE were NSVT and LVEF < 45%. Therefore, female carriers of missense variants with either NSVT or LVEF < 45% should not be considered a low-risk group. It is important to individualize risk stratification in carriers of LMNA missense variants, because not all have the same prognosis.[Resumen] Introducción y objetivos. Según las guías de muerte súbita, se debe considerar un desfibrilador automático implantable (DAI) para los pacientes con miocardiopatía dilatada debida a variantes en el gen de la lamina (LMNA) con al menos 2 factores: varones, fracción de eyección del ventrículo izquierdo (FEVI) < 45%, taquicardia ventricular no sostenida (TVNS) y variantes no missense. Nuestro objetivo es describir las características clínicas de una cohorte española de pacientes con cardiolaminopatías (registro REDLAMINA) y evaluar los criterios de riesgo vigentes. Métodos. Se evaluó la relación entre factores de riesgo y eventos cardiovasculares en una cohorte de 140 portadores de variantes en LMNA (54 probandos, 86 familiares, edad ≥ 16 años). Se consideró: a) evento arrítmico mayor (EAM) si hubo descarga apropiada del DAI o muerte súbita, y b) muerte por insuficiencia cardiaca, incluidos los trasplantes. Resultados. Se identificaron 11 variantes nuevas y 21 previamente publicadas. La FEVI < 45% (p = 0,001) y la TVNS (p < 0,001) se relacionaron con los EAM, pero no el sexo o el tipo de variante (missense frente a no missense). La FEVI < 45% (p < 0,001) fue el único factor relacionado con la muerte por insuficiencia cardiaca. Conclusiones. En el registro REDLAMINA, los únicos 2 predictores asociados con EAM fueron la TVNS y la FEVI < 45%. No se debería considerar grupo de bajo riesgo a las portadoras de variantes missense con TVNS o FEVI < 45%. Es importante individualizar la estratificación del riesgo de los portadores de variantes missense en LMNA, porque no todas tienen el mismo pronóstico.This study received a grant from the Proyecto de investigación de la Sección de Insuficiencia Cardiaca 2017 from the Spanish Society of Cardiology and grants from the Instituto de Salud Carlos III (ISCIII) [PI14/0967, PI15/01551, AC16/0014] and ERA-CVD Joint Transnational Call 2016 (Genprovic). Grants from the ISCIII and the Ministerio de Economía y Competitividad de España (Spanish Department of Economy and Competitiveness) are supported by the Plan Estatal de I+D+i 2013-2016: Fondo Europeo de Desarrollo Regional (FEDER) “Una forma de hacer Europa”

Natural History of MYH7-Related Dilated Cardiomyopathy

BACKGROUND: Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVE: We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS: We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 ± 19.2 years) recruited from 29 international centers. RESULTS: At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% ± 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of ≤35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS: MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare

Cenozoic thick-skinned deformation and topography evolution of the Spanish Central System

The Spanish Central System is a Cenozoic pop-up with an E-W to NE-SW orientation that affects all the crust (thick-skinned tectonics). It shows antiform geometry in the upper crust with thickening in the lower crust. Together with the Iberian Chain it constitutes the most prominent mountainous structure of the Pyrenean foreland. The evolutionary patterns concerning the paleotopography of the interior of the Peninsula can be established by an analysis of the following data: gravimetric, topographical, macro and micro tectonic, sedimentological (infilling of the sedimentary basins of the relative foreland), P-T-t path from apatite fission tracks, paleoseismic and instrumental seismicity. Deformation is clearly asymmetric in the Central System as evidenced by the existence of an unique, large (crustal-scale) thrust at its southern border, while in the northern one there is a normal sequence of north verging thrusts, towards the Duero Basin, whose activity ended during the Lower Miocene. This deformation was accomplished under triaxial compression, Oligocene- Lower Miocene in age, marked by NW-SE to NNW-SSE shortening. Locally orientations of paleostresses deviate from that of the regional tensor, following a period of relative tectonic quiescence. During the Upper Miocene-Pliocene, a reactivation of constrictive stress occurred and some structures underwent rejuvenation as a consequence of the action of tectonic stresses similar to those of today (uniaxial extension to strike-slip with NW-SE shortening direction). However, the westernmost areas show continuous activity throughout the whole of the Tertiary, with no apparent pulses. At the present time there is a moderate seismic activity in the Central System related to faults that were active during the Cenozoic, with the same kinematic characteristics

Landslides and other geomorphologic and hydrologic effects induced by earthquakes in Portugal

A geodatabase of landslides and other geomorphologic and hydrologic phenomena, triggered by earthquakes in Portugal, was built based on the analysis of historical records. As a result, 28 earthquake-triggered landslides were identified; the landslides were associated with 10 earthquakes that occurred between 382 and 1969. However, the landslide recognition and the definition of its precise location were difficult due to the time elapsed since the occurrence of most of the landslides and to the changes in the morphologic features of the affected slopes. Despite these limitations, it was possible to establish that most landslides were disrupted landslides that affected jointed rocks. The earthquake-triggered landslides are concentrated in the southern and central areas of Portugal, close to the main seismic sources, as opposed to the recurrent landslides induced by precipitation in the northern and central parts of the country. Other identified geomorphologic and hydrologic phenomena induced by earthquakes in mainland Portugal include: ground cracks (48 cases), liquefaction (75 cases) and water spring and fountains anomalies (262 cases). These secondary earthquake effects were reported for 5 earthquakes, but these may be considered representative only in two cases: the earthquakes of 1 November 1755 and of 23 April 1909. The distance between the site of the above-mentioned phenomena and the corresponding earthquake epicentre varies according to the earthquake magnitude and the type of phenomena. The 1755 earthquake (Mw 8.7) induced geomorphologic and hydrologic effects farther from the epicentre (maximum distance of 658 km) than the 1909 earthquake (Mw 6), whereas the effects associated with the latter were felt much closer to the earthquake epicentre (maximum distance of 172 km). The hydrologic effects brought about by the 1755 earthquake probably occurred throughout the country (distance of at least 658 km from epicentre) in contrast to ground cracks (526 km) and liquefaction (504 km).info:eu-repo/semantics/publishedVersio