CARPANTA eats words you don't need from e-mail

Presentamos CARPANTA, un sistema de resumen automático de correo electrónico que aplica técnicas de conocimiento intensivo para obtener resúmenes coherentes. El uso de herramientas de PLN de amplia cobertura garantiza la robusteza y portabilidad del sistema, pero también se explota conocimiento dependiente de lengua y dominio. CARPANTA ha sido evaluado por comparación con un corpus de resúmenes confeccionados por jueces humanos, con resultados satisfactorios.We present CARPANTA, an e-mail summarization system that applies a knowledge intensive approach to obtain highly coherent summaries. Robustness and portability are guaranteed by the use of general-purpose NLP, but it also exploits language- and domain-dependent knowledge. The system is evaluated against a corpus of human-judged summaries, reaching, satisfactory levels of performance.This research has been conducted thanks to a grant associated to the X-TRACT project, PB98-1226 of the Spanish Research Department. It has also been partially funded by projects HERMES (TIC2000-0335-C03-02), PETRA (TIC2000-1735-C02-02) and by CLiC (Centre de Llenguatge i Computació)

Prevalence of the Frank's sign by aetiopathogenic stroke subtype: A prospective analysis

Enfermedades cerebrovasculares; Pabellón auricularCerebrovascular disorders; Ear auricleMalalties cerebrovasculars; Pavelló auricularBackground and purpose: The Frank's sign is a diagonal earlobe crease running from the tragus to the edge of the auricle at an angle of 45°. Many studies have associated this sign with coronary artery disease and some with cerebrovascular disease. The objective of this study was to analyse the prevalence of the Frank's sign in patients suffering from acute stroke with a particular focus on its prevalence in each of the five aetiopathogenic stroke subtypes. Special interest is given to embolic stroke of undetermined source (ESUS), correlating the sign with clinical and radiological markers that support an underlying causal profile in this subgroup. Methods: Cross-sectional descriptive study including 124 patients admitted consecutively to a stroke unit after suffering an acute stroke. The Frank's sign was evaluated by the same blinded member of the research team from photographs taken of the patients. The stroke subtype was classified following SSS-TOAST criteria and the aetiological study was performed following the ESO guidelines. Results: The Frank's sign was present in 75 patients and was more prevalent in patients with an ischaemic stroke in comparison with haemorrhagic stroke (63.9 vs. 37.5, p<0.05). A similar prevalence was found in the different ischaemic stroke subtypes. The Frank's sign was significantly associated with age, particularly in patients older than 70 who had vascular risk factors. Atherosclerotic plaques found in carotid ultrasonography were significantly more frequent in patients with the Frank's sign (63.6%, p<0.05). Analysing the ESUS, we also found an association with age and a higher prevalence of the Frank's sign in patients with vascular risk factors and a tendency to a high prevalence of atherosclerosis markers. Conclusion: The Frank's sign is prevalent in all aetiopathogenic ischaemic stroke subtypes, including ESUS, where it could be helpful in suspecting the underlying cardioembolic or atherothrombotic origin and guiding the investigation of atherosclerosis in patients with ESUS and the Frank's sign.JS: 3 -Spanish Ministry of Economy and Competitiveness for grants RETICS-INVICTUSPLUS (RD0016/0019/0003) funded by Instituto de Salud Carlos III and cofunded by the European Regional Development Fund [ERDF]. -Instituto de Salud Carlos III with a Grant for Health Research (PI16/01540) -Government of Catalonia-Agència de Gestio´ d’Ajuts Universitaris i de Recerca (2017 SGR 1730). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

New sample of drosophilids from the Font Groga site, Barcelona (Spain)

A new sample of drosophilids was obtained from Font Groga (Barcelona) on 9th October 2013. Flies were netted over 12 baits containing fermenting bananas placed along a trail from 4 to 7 pm. The number of flies classified according to species and sex is presented in Table 1. The most abundant species is D. subobscura (62.60%). This is expected because the sample was obtained during its autumn peak of expansion. Also interesting is to find again D. suzukii, and in a percentage similar (9.20%) to that obtained in 2012 sample. This species invaded recently many European regions and seems it is well established. We have finally estimated the species diversity using H" (Shannon diversity index) and J (Shannon uniformity index). The values obtained were 0.990 and 0.615, respectively. They are similar to those estimates obtained in the same site by Calabria in autumn 2007 and higher than those of Canals et al. in late autumn 2012

Exploring allele specific methylation in drug dependence susceptibility

Drug dependence is a neuropsychiatric condition that involves genetic, epigenetic and environmental factors. Allele-specific methylation (ASM) is a common and stable epigenetic mechanism that involves genetic variants correlating with differential levels of methylation at CpG sites. We selected 182 single-nucleotide polymorphisms (SNPs) described to influence cis ASM in human brain regions to evaluate their possible contribution to drug dependence susceptibility. We performed a case-control association study in a discovery sample of 578 drug-dependent patients (including 428 cocaine-dependent subjects) and 656 controls from Spain, and then, we followed-up the significant associations in an independent sample of 1,119 cases (including 589 cocaine-dependent subjects) and 1,092 controls. In the discovery sample, we identified five nominal associations, one of them replicated in the follow-up sample (rs6020251). The pooled analysis revealed an association between drug dependence and rs6020251 but also rs11585570, both overcoming the Bonferroni correction for multiple testing. We performed the same analysis considering only cocaine-dependent patients and obtained similar results. The rs6020251 variant correlates with differential methylation levels of cg17974185 and lies in the first intron of the CTNNBL1 gene, in a genomic region with multiple histone marks related to enhancer and promoter regions in brain. Rs11585570 is an eQTL in brain and blood for the SCP2 and ECHDC2 genes and correlates with differential methylation of cg27535305 and cg13461509, located in the promoter regions of both genes. To conclude, using an approach that combines genetic and epigenetic data, we highlighted the CTNNBL1, SCP2 and ECHDC2 genes as potential contributors to drug dependence susceptibility

Annual climatic effects on the autumnal Drosophilids fauna composition at the Font Groga site (Tibidabo, Barcelona)

The abundance of different drosophilid species was studied in a series of six consecutive years during autumn at the Font Groga site (Tibidabo, Barcelona). Furthermore, the relation between these abundances and the following climatological variables (Tmean: mean temperature, Tmax: maximum temperature, Tmin: minimum temperature, Hm: mean humidity and Rf: rainfall) were studied. The most common species observed at this location were D. subobscura, D. melanogaster/D.simulans and the invasive species D. suzukii. Other species were trapped depending on the year (D. immigrans, D. buzzatti, D. cameraria, D. phalerata and D. hydei), and the values of several diversity indexes were computed for each annual collections. In general, in those years where D. melanogaster/D. simulans flies were abundant, D. subobscura and D. suzukii were in low frequencies. From the analyses of the climatic variables and the three most abundant species, it seemed that D. subobscura would need environmental conditions characterized by a low Tmin, not a very high Tmax (but with a large difference between both), a certain degree of humidity and scarce rainfall. D. suzukii presented a similar pattern, but not so accused, whereas D. melanogaster / D.simulans group would need high Tmin, low Tmax (with a small difference between Tmin and Tmax values) and low levels of humidity and rainfall. Finally, in these autumnal samples our results would indicate a certain association between the abundances of D. subobscura and D. suzukii, although their breeding sites are clearly different

Association of the PLCB1 gene with drug dependence

Genetic factors involved in the susceptibility to drug addiction still remain largely unknown. MiRNAs seem to play key roles in the drug-induced plasticity of the brain that likely drives the emergence of addiction. In this work we explored the role of miRNAs in drug addiction. With this aim, we selected 62 SNPs located in the 3'UTR of target genes that are predicted to alter the binding of miRNA molecules and performed a case-control association study in a Spanish sample of 735 cases (mainly cocaine-dependent subjects with multiple drug dependencies) and 739 controls. We found an association between rs1047383 in the PLCB1 gene and drug dependence that was replicated in an independent sample (663 cases and 667 controls). Then we selected 9 miRNAs predicted to bind the rs1047383 region, but none of them showed any effect on PLCB1 expression. We also assessed two miRNAs binding a region that contains a SNP in linkage disequilibrium with rs1047383, but although one of them, hsa-miR-582, was found to downregulate PLCB1, no differences were observed between alleles. Finally, we explored the possibility that PLCB1 expression is altered by cocaine and we observed a significant upregulation of the gene in the nucleus accumbens of cocaine abusers and in human dopaminergic-like neurons after cocaine treatment. Our results, together with previous studies, suggest that PLCB1 participates in the susceptibility to drug dependence

Involvement of the 14-3-3 gene family in autism spectrum disorder and schizophrenia: Genetics, transcriptomics and functional analyses

The 14-3-3 protein family are molecular chaperones involved in several biological functions and neurological diseases. We previously pinpointed YWHAZ (encoding 14-3-3ζ) as a candidate gene for autism spectrum disorder (ASD) through a whole-exome sequencing study, which identified a frameshift variant within the gene (c.659-660insT, p.L220Ffs*18). Here, we explored the contribution of the seven human 14-3-3 family members in ASD and other psychiatric disorders by investigating the: (i) functional impact of the 14-3-3ζ mutation p.L220Ffs*18 by assessing solubility, target binding and dimerization; (ii) contribution of common risk variants in 14-3-3 genes to ASD and additional psychiatric disorders; (iii) burden of rare variants in ASD and schizophrenia; and iv) 14-3-3 gene expression using ASD and schizophrenia transcriptomic data. We found that the mutant 14-3-3ζ protein had decreased solubility and lost its ability to form heterodimers and bind to its target tyrosine hydroxylase. Gene-based analyses using publicly available datasets revealed that common variants in YWHAE contribute to schizophrenia (p = 6.6 × 10-7), whereas ultra-rare variants were found enriched in ASD across the 14-3-3 genes (p = 0.017) and in schizophrenia for YWHAZ (meta-p = 0.017). Furthermore, expression of 14-3-3 genes was altered in post-mortem brains of ASD and schizophrenia patients. Our study supports a role for the 14-3-3 family in ASD and schizophrenia

Neuronal glycogen synthesis contributes to physiological aging

Glycogen is a branched polymer of glucose and the carbohydrate energy store for animal cells. In the brain, it is essentially found in glial cells, although it is also present in minute amounts in neurons. In humans, loss-of-function mutations in laforin and malin, proteins involved in suppressing glycogen synthesis, induce the presence of high numbers of insoluble polyglucosan bodies in neuronal cells. Known as Lafora bodies (LBs), these deposits result in the aggressive neurodegeneration seen in Lafora's disease. Polysaccharide-based aggregates, called corpora amylacea (CA), are also present in the neurons of aged human brains. Despite the similarity of CA to LBs, the mechanisms and functional consequences of CA formation are yet unknown. Here, we show that wild-type laboratory mice also accumulate glycogen-based aggregates in the brain as they age. These structures are immunopositive for an array of metabolic and stress-response proteins, some of which were previously shown to aggregate in correlation with age in the human brain and are also present in LBs. Remarkably, these structures and their associated protein aggregates are not present in the aged mouse brain upon genetic ablation of glycogen synthase. Similar genetic intervention in Drosophila prevents the accumulation of glycogen clusters in the neuronal processes of aged flies. Most interestingly, targeted reduction of Drosophila glycogen synthase in neurons improves neurological function with age and extends lifespan. These results demonstrate that neuronal glycogen accumulation contributes to physiological aging and may therefore constitute a key factor regulating age-related neurological decline in humans

SAFE: Programa de Soporte para Adolescentes Acogidos y Acogidas en Familia Extensa

El programa es el resultado de una investigación I+D. Se dirige a jóvenes que se encuentran en acogimiento en familia extensa. El Programa de Soporte para Adolescentes Acogidos y Acogidas en Familia Extensa (SAFE) facilita una intervención grupal a lo largo de 9 sesiones centrada en el desarrollo de un mejor conocimiento y comprensión de los aspectos diferenciales del acogimiento familiar con los jóvenes acogidos en familia extensa. Los destinatarios del programa son adolescentes que se encuentran en acogimiento familiar en familia extensa, de edades preferentemente entre los 12 y los 16 años. El enfoque de resiliencia y apoyo social son referentes teóricos del programa

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Altres ajuts: Generalitat de Catalunya, Departament de Salut; Generalitat de Catalunya, Departament d'Empresa i Coneixement i CERCA Program; Ministerio de Ciencia e Innovación; Instituto Nacional de Bioinformática; ELIXIR Implementation Studies (CNAG-CRG); Centro de Investigaciones Biomédicas en Red de Enfermedades Raras; Centro de Excelencia Severo Ochoa; European Regional Development Fund (FEDER).Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. The Undiagnosed Rare Disease Program of Catalonia project collated previously inconclusive good quality genomic data (panels, exomes, and genomes) and standardized phenotypic profiles from 323 families (543 individuals) with a neurologic rare disease. The data were reanalyzed systematically to identify relatedness, runs of homozygosity, consanguinity, single-nucleotide variants, insertions and deletions, and copy number variants. Data were shared and collaboratively interpreted within the consortium through a customized Genome-Phenome Analysis Platform, which also enables future data reinterpretation. Reanalysis of existing genomic data provided a diagnosis for 20.7% of the patients, including 1.8% diagnosed after the generation of additional genomic data to identify a second pathogenic heterozygous variant. Diagnostic rate was significantly higher for family-based exome/genome reanalysis compared with singleton panels. Most new diagnoses were attributable to recent gene-disease associations (50.8%), additional or improved bioinformatic analysis (19.7%), and standardized phenotyping data integrated within the Undiagnosed Rare Disease Program of Catalonia Genome-Phenome Analysis Platform functionalities (18%)