Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3

Muscular dystrophies are a heterogeneous group of inherited dis-eases that cause progressive muscle weakness. The association of epi-lepsy with some of these diseases has been previously described andhas most commonly been found for Fukuyama-type muscular dystro-phy due to alterations in cerebral neuronal migration[1]. Among mus-cular dystrophies, limb-girdle muscular dystrophies (LGMDs)represent the fourth most common group, with a prevalence of 1.63per 100, 000 individuals[2]. The diseases in this group share a commonphenotype involving progressive weakness of the scapular and pelvicgirdles that starts after 2 years of age and can be accompanied by differ-ent degrees of elevation in blood creatine kinase (CK) levels and by var-ious anatomic pathologicalfindings. LGMDs are subdivided into LGMD1and LGMD2 depending on whether the inheritance is dominant or re-cessive, respectively. LGMD2A, which is caused by deficiency of thecalpain 3 protein owing to mutations in theCAPN3gene, is the mostcommon form of LGMD in Europe and America[2]. Its associationwith epilepsy has been described in only two isolated cases[1, 3], bothof them on the spectrum of genetic generalised epilepsies (GGEs). Thelatter are the most common group of epilepsies with genetic aetiology, accounting for 15–20% of all epilepsy cases[4]. Nonetheless, none of thegenes usually involved in monogenic epilepsies seem to play a majorrole in GGE, probably indicating a polygenic predisposition to GGE andtherefore a complex inheritance pattern[5]. Here, we describe a family..

Infra-Red thermal image analysis for grapevines

Trabajo presentado en el 18th International Symposium of the Group of International Experts of vitivinicultural Systems for CoOperation (GIESCO 2013), celebrado en Oporto del 7 al 11 de julio de 2013.-- Número fuera de serie.Infrared thermal images (IRTI) have been used for grapevine research since the early 90’s. Even though its promising results in the assessment of canopy stomatal conductance and plant water status, from the beginning and recent research publications, it has not been fully applied on a commercial scale yet. It is believed that the bottleneck for this technology is the lack of reliable automation tools for IRTI analysis. Accurate and reliable automation technique s will allow the use of this technique to assess the spatial variability of physiological processes within the canopy using infrared cameras mounted on moving vehicles, drones, octocopters or robots. Automated analysis systems are requirement of The Vineyard of The Future initiative, which is an international effort to establis h fully monitored vineyards in the most prominent viticultural and winemaking areas in the world. In this work, a semi-automated IRTI analyses performed using a code written in MATLAB® for estimate dry and wet references excluding non-leaf temperatures was compared with evaporimeter (EvapoSensor, Skye Instruments Ltd, Powys, UK) measurements used to provide dry and wet references from IRTIs. Results obtained from this research (grapevines cv. Tempranillo) showed good and statistically significant correlations between temperatur e references obtained from IRTI analysis and measured values. This work constitutes one additional step forward to the implementation of thermal imaging as an automated routine technique for physiological vineyard assess ment from proximal sensing and unmanned aerial vehicles (UAV) platforms.The research leading to this report was supported by the Spanish project “STRESSIMAGING HPRN-CT-2002-00254” and Chilean projects CONICYT (Nº 79090035) and Programa de Investigación sobre Adaptación de la Agricultura al Cambio Climático - PIEI (Universidad de Talca).Peer Reviewe

Monitoring and mapping soil functionality in degraded areas of organic European vineyards

Soil malfunctioning, caused by an improper land preparation before vine plantation and/or management, is a common problem in European vineyards. Soil malfunctioning can include: reduced contribution of the soil fauna, poor organic matter content, imbalance nutritional status, altered pH, water deficiency, soil compaction and/or scarce oxygenation. To address these problems, ReSolVe, a transnational European research project, aimed at testing the effects of selected agronomic strategies for restoring optimal soil functionality in degraded areas within organic vineyard. The project involves 8 research groups in 6 different EU countries (Italy, Spain, France, Sweden, Slovenia, and Turkey) with experts from several disciplines including soil science, ecology, microbiology, grapevine physiology, viticulture, and biometry. The experimental vineyards are situated in Italy (Chianti hills and Maremma plain, Tuscany), Spain (La Rioja), France (Bordeaux and Languedoc), and Slovenia (Primorska) for winegrapes, and in Turkey (Adana and Mersin) for tablegrapes. Three different restoring strategies have been implemented: (i) compost, (ii) green manure with winter legumes, and (iii) dry mulching with cover crops. These strategies have being tested according to their efficiency to improve i) plant and root growth; and ii) grape yield and quality; optimize iii) the quality of soil ecosystem services; and iv) the terroir effect. The first activity of the project was characterizing and mapping the degraded areas within experimental vineyards. In the work we used non-invasive technologies to characterize soil and plant status. In Spanish and Italian vineyards, the delineation of degraded areas was performed by gamma-ray spectroscopy for topsoil, RGB machine vision for canopy status and thermography for plant water status. Gamma-ray spectroscopy measured continuously the natural gamma-ray emitted from the first 30-40 cm of soil, calculating the contribution of the main radionuclides (40K, 232Th, and 238U). The spectra of gamma-ray were able to provide information about mineralogy, texture, surficial stoniness and carbonates. RGB and thermal cameras were used to assess canopy porosity, leaf area exposure and vine water status of both degraded and non-degraded areas. All soil, canopy and water status parameters were mapped

Evaluación de las Malezas predominantes en el Cultivo de Arroz (Oryza Sativa L.) de Riego en la Región de Aracataca.

El presente trabajo se efectuó en la zona arrocera del Municipio de Aracataca, magdalena durante el segundo semestre de 1985. La región está localizada entre los 110 36' de Latitud Norte, y 74° 12' de Longitud Oeste. La zona estudiada se encuentra enmarcada en los siguientes límites : Norte : Río Tucurinca Este : Sierra Nevada de Santa Marta Oeste : Ciénaga Grande de Santa Marta Sur : Río Fundación Ecológicamente la zona está situada en un bosque seco tropical, con temperatura entre 27 y 33°C, humedad relativa promedio de 78% y una precipitación promedio anual de 1600 mm. La zona arrocera de Aracataca tiene una extensión de 2025 hectáreas de las cuales se seleccionaron 12 fincas equidistantes y se agruparon a su vez en cuatro zonas. Para la colección de datos se tomaron lotes de 3000 m por cada zona. Las muestras se colectaron utilizando el método del m2, lanzando ésta al azar en cada lote. Se hicieron 20 muestreos por cada zona y en tres épocas diferentes del cultivo, a los 20, 40 y 80 días. Se determinó el porcentaje de malezas de hojas angostas y de hojas anchas, densidad relativa, frecuencia y frecuencia relativa. El objetivo del estudio es establecer cuáles son las malezas predominantes en el cultivo de arroz de riego en el Municipio de Aracataca, ya que para implementar un buen plan de control lo primero que se debe conocer es el complejo de malezas existentes. Se determinaron 13 familias, 25 géneros y 30 especies. El número total de malezas colectadas en las cuatro zonas fue de 2.513 en 240 muestreos efectuados en las tres épocas de cultivo anotadas anteriormente. Las malezas de hoja angosta presentaron una mayor incidencia que las de hoja ancha, En general las malezas de mayor densidad fueron Cyperus rotundus L., Echinochloa colonum (L)

Epilepsy in elderly patients: does age of onset make a difference?

Introduction: Epilepsy is most frequent in children and elderly people. Today\u27s population is ageing and epilepsy prevalence is increasing. The type of epilepsy and its management change with age. Methods: We performed a retrospective, observational study comparing patients aged ≥ 65 years with epilepsy diagnosed before and after the age of 65, and describing epilepsy characteristics and comorbidities in each group. Results: The sample included 123 patients, of whom 61 were diagnosed at \u3c 65 years of age (group A), 62 at ≥ 65 of age (group B). Sex distribution was similar in both groups, with 39 men (62.9%) in group A and 37 (60.7%) in group B. Mean age was 69.97 ± 5.6 years in group A and 77.29 ± 6.73 in group B. The most common aetiology was unknown in group A (44.3%, n = 27) and vascular in group B (74.2%, n = 46). History of stroke was present in 12 patients from group A (19.7%) and 32 (51.6%) in group B. Antiepileptic drugs were prescribed at lower doses in group A. Statistically significant differences were found between groups for history of ischaemic stroke, cognitive impairment, psychiatric disorders, and diabetes mellitus; degree of dependence; and number of antiepileptic drugs. Conclusion: Age of onset ≥ 65 years is closely related to cardiovascular risk factors; these patients require fewer antiepileptic drugs and respond to lower doses. Some cases initially present as status epilepticus

OP03 Telaprevir-based therapy in G1 HCV-infected patients with prior null response, partial response or relapse to peginterferon/ribavirin: REALIZE trial final results

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X-ray detection with Micromegas with background levels below 10−6^{-6} keV−1^{-1}cm−2^{-2}s−1^{-1}

Micromegas detectors are an optimum technological choice for the detection of low energy x-rays. The low background techniques applied to these detectors yielded remarkable background reductions over the years, being the CAST experiment beneficiary of these developments. In this document we report on the latest upgrades towards further background reductions and better understanding of the detectors' response. The upgrades encompass the readout electronics, a new detector design and the implementation of a more efficient cosmic muon veto system. Background levels below 10$^{-6}$keV$^{-1}$cm$^{-2}$s$^{-1}$ have been obtained at sea level for the first time, demonstrating the feasibility of the expectations posed by IAXO, the next generation axion helioscope. Some results obtained with a set of measurements conducted in the x-ray beam of the CAST Detector Laboratory will be also presented and discussed