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..

Modelling the behaviour of microbulk Micromegas in Xenon/trimethylamine gas

We model the response of a state of the art micro-hole single-stage charge amplication device (`microbulk' Micromegas) in a gaseous atmosphere consisting of Xenon/trimethylamine at various concentrations and pressures. The amplifying structure, made with photo-lithographic techniques similar to those followed in the fabrication of gas electron multipliers (GEMs), consisted of a 100 um-side equilateral-triangle pattern with 50 um-diameter holes placed at its vertexes. Once the primary electrons are guided into the holes by virtue of an optimized field configuration, avalanches develop along the 50 um-height channels etched out of the original doubly copper-clad polyimide foil. In order to properly account for the strong field gradients at the holes' entrance as well as for the fluctuations of the avalanche process (that ultimately determine the achievable energy resolution), we abandoned the hydrodynamic framework, resorting to a purely microscopic description of the electron trajectories as obtained from elementary cross-sections. We show that achieving a satisfactory description needs additional assumptions about atom-molecule (Penning) transfer reactions and charge recombination to be made

Dosimetric characterization of a brachytherapy applicator using MCNP5 modelisation and in-phantom measurements

[EN] A gynaecological applicator consisting of a metallic intra-uterine tube with a plastic vaginal applicator and an HDR Ir-192 source have been simulated with MCNP5 (Monte Carlo code). A solid phantom has been designed to perform measurements around the applicator with radiochromic films. The isodose curves obtained are compared with curves calculated with the F4MESH tally of MCNP5 with a good agreement. A pinpoint ionization chamber has been used to evaluate dose at some reference points. (c) 2009 Elsevier Ltd. All rights reserved.Gerardy, I.; Ródenas Diago, J.; Van Dycke, M.; Gallardo Bermell, S.; Ceccolini, E. (2010). Dosimetric characterization of a brachytherapy applicator using MCNP5 modelisation and in-phantom measurements. Applied Radiation and Isotopes. 68(4):735-737. doi:10.1016/j.apradiso.2009.10.018S73573768

Deshojado precoz en Viura y Malvasía riojana

En este trabajo se ha estudiado la aplicación de deshojado precoz en las variedades blancas Viura y Malvasía riojana como herramienta para el control del rendimiento y la mejora de la sanidad de la uva, con el objetivo de incrementar la calidad de sus vinos. Estas variedades presentan una producción elevada y racimos de gran tamaño, muy compactos, por lo que son bastante sensibles a Botrytis cinerea. Los resultados obtenidos indican que esta práctica puede plantearse como un método eficaz para el control del rendimiento y la mejora del estado sanitario de la uva; asimismo, favorece una correcta evolución del proceso de maduración, mejorando la composición de la uva debido al incremento del contenido de sólidos solubles y de compuestos fenólicos. La disminución de la acidez total y el aumento de pH que se producen en la uva, debido a la modificación del microclima de los racimos y al control del rendimiento, podría considerarse un inconveniente a tener en cuenta, sobre todo en el caso de variedades blancas que se caracterizan por un déficit de acidez total.Peer Reviewe

Natural or Palatal Positioning of Immediate Post-extraction Implants in the Aesthetic Zone? Five-year Outcomes of a Multicentre Randomised Controlled Trial

PURPOSE. To evaluate whether there is a difference in aesthetic outcomes when positioning immediate post-extractive implants in the “central” position (where the natural tooth would be in relation to adjacent teeth/implants) as opposed to roughly 3 mm more pala-tally. MATERIALS AND METHODS. Just after tooth extraction, 20 patients requiring one single immediate maxillary post-extraction implant, from second premolar to second premolar, were randomly allocated to receive one implant positioned in either the natural “central” position (central group; 10 patients), or about 3 mm more palatally (palatal group; 10 pa-tients) according to a parallel-group design at two different centres. When needed, sites were reconstructed, and bone-to-implant gaps were filled with granules of anorganic bovine bone and covered by resorbable collagen barriers. Implants were left submerged for 4 months and rehabilitated with provisional crowns, replaced after 4 months by definitive metal-ceramic crowns. Patients were followed up to 5 years after loading. Outcome measures were: crown and implant failures; complications; aesthetics, assessed using the pink aesthetic score (PES); peri-implant marginal bone level changes; and patient satisfaction, recorded by blinded assessors. RESULTS. Three patients from each group dropped out within 3 years after loading. Five years after loading, there were no significant differences between the two groups in median PES score, assessed by a blind assessor, (central: 10 [IQR: 5.5], palatal: 8.5 [IQR: 6.75], median difference =-1.0; 95% CI:-7.0 to 4.0; P = 0.571); median bone level (central: 0.45 mm [IQR: 1.76], palatal: 0.45 mm [IQR: 1.93], median difference = 0 mm; 95% CI:-1.7 to 3.0; P = 1.000); bone level changes (central: 0.15 mm [IQR: 0.70], palatal:-0.05 mm [IQR: 1.23], median difference =-0.20 mm; P = 0.471); implant failures (one in each group, 14%, difference in proportion = 0.00; 95% CI:-0.39 to 0.39; P = 1.000); or complications (two palatal group patients and one central group patient, difference in proportion = 0.14; 95% CI:-0.28 to 0.52; P = 1.000). Furthermore, patients from both groups were equally satisfied with both function and aesthetics (both P = 0.699). CONCLUSIONS. These preliminary results suggest that positioning of immediate post-ex-traction implants 3 mm more palatally may not, in fact, improve aesthetics; however, the sample size of the present study was very limited, and larger trials are therefore required to confirm or refute these findings

Assessment of grape cluster yield components based on 3D descriptors using stereo vision

NOTICE: this is the author’s version of a work that was accepted for publication in Food Control. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in Food Control, [Volume 50, April 2015, Pages 273–282] DOI 10.1016/j.foodcont.2014.09.004Wine quality depends mostly on the features of the grapes it is made from. Cluster and berry morphology are key factors in determining grape and wine quality. However, current practices for grapevine quality estimation require time-consuming destructive analysis or largely subjective judgment by experts. The purpose of this paper is to propose a three-dimensional computer vision approach to assessing grape yield components based on new 3D descriptors. To achieve this, firstly a partial three-dimensional model of the grapevine cluster is extracted using stereo vision. After that a number of grapevine quality components are predicted using SVM models based on new 3D descriptors. Experiments confirm that this approach is capable of predicting the main cluster yield components, which are related to quality, such as cluster compactness and berry size (R2 > 0.80, p < 0.05). In addition, other yield components: cluster volume, total berry weight and number of berries, were also estimated using SVM models, obtaining prediction R2 of 0.82, 0.83 and 0.71, respectively.This work has been partially funded by the Instituto Nacional de Investigacion y Tecnologia Agraria y Alimentaria de Espana (INIA - Spanish National Institute for Agriculture and Food Research and Technology) through research project RTA2012-00062-C04-02, support of European FEDER funds, UPV-SP20120276 and AGL2011-23673 project.Ivorra Martínez, E.; Sánchez Salmerón, AJ.; Camarasa Baixauli, JG.; Diago, M.; Tardaguila, J. (2015). Assessment of grape cluster yield components based on 3D descriptors using stereo vision. Food Control. 50:273-282. https://doi.org/10.1016/j.foodcont.2014.09.004S2732825

Hypersensitivity in molar incisor hypomineralization: Superficial infiltration treatment

To date, there are no standardized protocols available in the literature for hypersensitivity treatment in molar incisor hypomineralization (MIH) patients. The aim of this study was to evaluate the efficacy of erosion\u2013infiltration treatments with resin in children with a strong hypersensitivity and also to develop a minimally invasive diagnostic\u2013therapeutic pathway for young MIH patients. Patients with clinical signs of MIH were enrolled according to international guidelines. A total of 42 patients (8\u201314 years old) with sensitivity of at least one molar and patients with post eruptive enamel fractures, but without dentin involvement or cavitated carious lesions were selected. A single superficial infiltration treatment with ICON (DMG, Germany) was performed with a modified etching technique. Sensitivity was tested with the Schiff Scale and Wong Baker Face Scale and was repeated at 12 months follow\u2010up. All patients reported lower sensitivity values at the end of the treatment. Significant differences of sensitivity according to the Schiff scale were reported between T0 and all subsequent follow\u2010ups, p &lt; 0.05. The treatment of erosion infiltration with ICON resin is a minimally invasive preventive treatment that significantly improves the problem of hypersensitivity in permanent molars with MIH

Solar ultraviolet radiation is necessary to enhance grapevine fruit ripening transcriptional and phenolic responses

Background: Ultraviolet (UV) radiation modulates secondary metabolism in the skin of Vitis vinifera L. berries, which affects the final composition of both grapes and wines. The expression of several phenylpropanoid biosynthesis-related genes is regulated by UV radiation in grape berries. However, the complete portion of transcriptome and ripening processes influenced by solar UV radiation in grapes remains unknown.Results: Whole genome arrays were used to identify the berry skin transcriptome modulated by the UV radiation received naturally in a mid-altitude Tempranillo vineyard. UV radiation-blocking and transmitting filters were used to generate the experimental conditions. The expression of 121 genes was significantly altered by solar UV radiation. Functional enrichment analysis of altered transcripts mainly pointed out that secondary metabolism-related transcripts were induced by UV radiation including VvFLS1, VvGT5 and VvGT6 flavonol biosynthetic genes and monoterpenoid biosynthetic genes. Berry skin phenolic composition was also analysed to search for correlation with gene expression changes and UV-increased flavonols accumulation was the most evident impact. Among regulatory genes, novel UV radiation-responsive transcription factors including VvMYB24 and three bHLH, together with known grapevine UV-responsive genes such as VvMYBF1, were identified. A transcriptomic meta-analysis revealed that genes up-regulated by UV radiation in the berry skin were also enriched in homologs of Arabidopsis UVR8 UV-B photoreceptor-dependent UV-B -responsive genes. Indeed, a search of the grapevine reference genomic sequence identified UV-B signalling pathway homologs and among them, VvHY5-1, VvHY5-2 and VvRUP were up-regulated by UV radiation in the berry skin.Conclusions: Results suggest that the UV-B radiation-specific signalling pathway is activated in the skin of grapes grown at mid-altitudes. The biosynthesis and accumulation of secondary metabolites, which are appreciated in winemaking and potentially confer cross-tolerance, were almost specifically triggered. This draws attention to viticultural practices that increase solar UV radiation on vineyards as they may improve grape features. © 2014 Carbonell-Bejerano et al.; licensee BioMed Central Ltd