El territori a Noruega, Finlàndia i Catalunya: comparació territorial i sistemes de planejament

Noruega i Finlàndia representen les icones del model de l'estat del benestar, motiu pel qual molt sovint han estat considerades com a exemples a seguir en matèria de política social, econòmica i ecològica. A més, es tracta de països amb una experiència democràtica més dilatada que Catalunya. Per la seva banda, aquesta darrera forma part de la Mediterrània, una regió històricament marcada per la important intervenció humana sobre el medi i en permanent canvi. Els països nòrdics i Catalunya són exemples de realitats totalment diferents, no només per les característiques del territori sinó també a nivell social, cultural, econòmic, polític i ambiental. La comparació territorial i de sistemes de planejament d'uns i altres és l'objecte d'aquest estudi.

Altruismo y solidaridad en el estado de bienestar

La hipótesis central de este trabajo plantea una relación causal entre las motivaciones altruistas y solidarias, y los Estados de Bienestar; concretamente, en la misma se esboza una relación causal bidireccional entre estas dos dimensiones: por una parte, el altruismo y la solidaridad se presentan como dos de los factores sociales que posibilitan la existencia de los Estados de Bienestar, y fomentan su mantenimiento y desarrollo; por otra parte, los Estados de Bienestar pueden generar, a su vez, un mayor nivel de motivaciones y conductas de este tipo.

L'ordenació dels espais de sòl no urbanitzable periurbà al Vallès Occidental: marc normatiu, planificació i experiències pràctiques

Els espais periurbans juguen un paper important en la configuració del territori i del medi ambient, ja que contenen valors i acullen funcions diverses (ecològiques i ambientals, socials i lúdiques, productives etc.). Si bé és cert que a la comarca del Vallès Occidental aquests espais són –també- producte de la relació amb un context geogràfic molt humanitzat, també ho és que actualment i en aquest context, es donen circumstàncies d’amenaça a l’equilibri que fou origen dels valors i funcions esmentats (tendències urbanitzadores i metropolització). Aquest escenari de complexitat demana una òptima ordenació del territori que garanteixi la preservació dels valors i funcions anomenats. El marc i les eines dels quals la societat s’ha dotat per a fer-ho les aporta el planejament del territori, la legislació sectorial etc. Tot i que aquest marc presenta oportunitats per a l'ordenació d’espais de sòl no urbanitzable periurbà, a la realitat pràctica s’observen pocs resultats d’aquesta favorable avinentesa. Aquesta és la paradoxa principal que planteja l’estudi de la temàtica escollida.

Aplicación de técnicas de citogenética molecular para la detección de aneuploidía y clastogenicidad en células humanas expuestas a arsénico

Los objetivos de esta investigación son: a) Determinar la potencialidad genotóxica de diversos compuestos de arsénico (incluyendo inorgánicos y sus formas metiladas) con el ensayo de micronúcleos utilizando cultivos de células humanas; y b)Estudiar la posible acción aneugénica y clastogénica de los compuestos analizados, determinando el origen de los micronúcleos inducidos mediante la técnica FISH, utilizando sondas pancentroméricas.

¿Son el síndrome de Asperger y el autismo de alto funcionamiento, entidades clínicas distintas?

Aquest treball intenta diferenciar el síndrome d’Asperger i l’autisme d’alt funcionament, com entitats clíniques diferents, mitjançant l’anàlisi de les variables: etiologia, curs del desenvolupament, pronòstic i tractament, així com determinar quina és la ubicació del síndrome d’Asperger dins dels Trastorns Generalitzats del Desenvolupament.

Pla d'acció d'energia sostenible al monestir tibetà Sakya Tashi Ling

El Monestir Budista del Garraf presenta un Pla Executiu per a l’ampliació del monestir. Amb la finalitat de millorar l’eficiència energètica en el futur monestir, s’estima el consum en compliment amb alguns criteris del Decret d’Ecoeficiència. Posteriorment, es realitza una comparació del consum actual del sistema amb l’estimat, analitzant les dades de manera global i per subsistemes. Mitjançant la realització d’un inventari del consum actual, l’estimació del consum futur, l’eficiència energètica i els potencials de captació d’energies renovables, es realitza un estudi per la implantació d’energies renovables al monestir. Es realitzen i s’avaluen les propostes per tal d’augmentar l’estalvi energètic del monestir i disminuir l’impacte ambiental. Es realitza l’estudi de dos escenaris energètics: el cobriment del 20% de la demanda energètica amb energies renovables (Pacte d’Alcaldes) i l’abastiment complet del consum amb energies renovables. Valorant diferents criteris ambientals, socials i econòmics es recomanen propostes per la seva aplicació.

Sperm Ultrastructure of the Spider Crab Maja brachydactyla (Decapoda: Brachyura)

This study describes the morphology of the sperm cell of Maja brachydactyla, with emphasis on localizing actin and tubulin. The spermatozoon of M. brachydactyla is similar in appearance and organization to other brachyuran spermatozoa. The spermatozoon is a globular cell composed of a central acrosome, which is surrounded by a thin layer of cytoplasm and a cup-shaped nucleus with four radiating lateral arms. The acrosome is a subspheroidal vesicle composed of three concentric zones surrounded by a capsule. The acrosome is apically covered by an operculum. The perforatorium penetrates the center of the acrosome and has granular material partially composed of actin. The cytoplasm contains one centriole in the subacrosomal region. A cytoplasmic ring encircles the acrosome in the subapical region of the cell and contains the structures-organelles complex (SO-complex), which is composed of a membrane system, mitochondria with few cristae, and microtubules. In the nucleus, slightly condensed chromatin extends along the lateral arms, in which no microtubules have been observed. Chromatin fibers aggregate in certain areas and are often associated with the SO-complex. During the acrosomal reaction, the acrosome could provide support for the penetration of the sperm nucleus, the SO-complex could serve as an anchor point for chromatin, and the lateral arms could play an important role triggering the acrosomal reaction, while slightly decondensed chromatin may be necessary for the deformation of the nucleus.

Actividad paroxística durante el sueño: Estudio Video PSGN

Estudi de pacients prèviament diagnosticats d’epilèpsia i pacients amb episodis nocturns a estudi que acudiren a la Unitat de la Son per somnolència diürna, episodis nocturns o estudi de l’activitat EEG durant la son. Paràmetres valorats: eficiència, temps total de son, percentatge de fases REM i NREM, tipus d´ episodis (motos en forma de crisi, parasomnias, o moviments periòdics de extremitats inferiors; o respiratoris en forma d’apnees e hipopneas), presentació d’activitat EEG paroxística durant l’estudi i la seua possible influència en l’estructura de la son.

Relaxation of selective constraints causes independent selenoprotein extinction in insect genomes

BACKGROUND: Selenoproteins are a diverse family of proteins notable for the presence of the 21st amino acid, selenocysteine. Until very recently, all metazoan genomes investigated encoded selenoproteins, and these proteins had therefore been believed to be essential for animal life. Challenging this assumption, recent comparative analyses of insect genomes have revealed that some insect genomes appear to have lost selenoprotein genes. METHODOLOGY/PRINCIPAL FINDINGS: In this paper we investigate in detail the fate of selenoproteins, and that of selenoprotein factors, in all available arthropod genomes. We use a variety of in silico comparative genomics approaches to look for known selenoprotein genes and factors involved in selenoprotein biosynthesis. We have found that five insect species have completely lost the ability to encode selenoproteins and that selenoprotein loss in these species, although so far confined to the Endopterygota infraclass, cannot be attributed to a single evolutionary event, but rather to multiple, independent events. Loss of selenoproteins and selenoprotein factors is usually coupled to the deletion of the entire no-longer functional genomic region, rather than to sequence degradation and consequent pseudogenisation. Such dynamics of gene extinction are consistent with the high rate of genome rearrangements observed in Drosophila. We have also found that, while many selenoprotein factors are concomitantly lost with the selenoproteins, others are present and conserved in all investigated genomes, irrespective of whether they code for selenoproteins or not, suggesting that they are involved in additional, non-selenoprotein related functions. CONCLUSIONS/SIGNIFICANCE: Selenoproteins have been independently lost in several insect species, possibly as a consequence of the relaxation in insects of the selective constraints acting across metazoans to maintain selenoproteins. The dispensability of selenoproteins in insects may be related to the fundamental differences in antioxidant defense between these animals and other metazoans.

Human synthetic lethal inference as potential anti-cancer target gene detection

Background: Two genes are called synthetic lethal (SL) if mutation of either alone is not lethal, but mutation of both leads to death or a significant decrease in organism's fitness. The detection of SL gene pairs constitutes a promising alternative for anti-cancer therapy. As cancer cells exhibit a large number of mutations, the identification of these mutated genes' SL partners may provide specific anti-cancer drug candidates, with minor perturbations to the healthy cells. Since existent SL data is mainly restricted to yeast screenings, the road towards human SL candidates is limited to inference methods. Results: In the present work, we use phylogenetic analysis and database manipulation (BioGRID for interactions, Ensembl and NCBI for homology, Gene Ontology for GO attributes) in order to reconstruct the phylogenetically-inferred SL gene network for human. In addition, available data on cancer mutated genes (COSMIC and Cancer Gene Census databases) as well as on existent approved drugs (DrugBank database) supports our selection of cancer-therapy candidates.Conclusions: Our work provides a complementary alternative to the current methods for drug discovering and gene target identification in anti-cancer research. Novel SL screening analysis and the use of highly curated databases would contribute to improve the results of this methodology.

Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS.Methods: The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers.Results: Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%), seven were suspected of having hereditary CRC (2.8%) and 11 were controls (2.68%). There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans, in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both families. Only two positive cases of microsatellite instability (2/17, 11.8%) were detected in tumours from p.Lys618Ala carriers, indicating that this variant does not play a role in functional inactivation of MLH1 in CRC patients.Conclusions: The p.Lys618Ala variant should be considered a neutral variant for LS. These findings have implications for the clinical management of CRC probands and their relatives.

Y-chromosome diversity in native mexicans reveals continental transition of genetic structure in the Americas

The genetic characterization of Native Mexicans is important to understand multiethnic based features influencing the medical genetics of present Mexican populations, as well as to the reconstruct the peopling of the Americas. We describe the Y-chromosome genetic diversity of 197 Native Mexicans from 11 populations and 1,044 individuals from 44 Native American populations after combining with publicly available data. We found extensive heterogeneity among Native Mexican populations and ample segregation of Q-M242* (46%) and Q-M3 (54%) haplogroups within Mexico. The northernmost sampled populations falling outside Mesoamerica (Pima and Tarahumara) showed a clear differentiation with respect to the other populations, which is in agreement with previous results from mtDNA lineages. However, our results point toward a complex genetic makeup of Native Mexicans whose maternal and paternal lineages reveal different narratives of their population history, with sex-biased continental contributions and different admixture proportions. At a continental scale, we found that Arctic populations and the northernmost groups from North America cluster together, but we did not find a clear differentiation within Mesoamerica and the rest of the continent, which coupled with the fact that the majority of individuals from Central and South American samples are restricted to the Q-M3 branch, supports the notion that most Native Americans from Mesoamerica southwards are descendants from a single wave of migration. This observation is compatible with the idea that present day Mexico might have constituted an area of transition in the diversification of paternal lineages during the colonization of the Americas.

A general definition and nomenclature for alternative splicing events

Understanding the molecular mechanisms responsible for the regulation of the transcriptome present in eukaryotic cells isone of the most challenging tasks in the postgenomic era. In this regard, alternative splicing (AS) is a key phenomenoncontributing to the production of different mature transcripts from the same primary RNA sequence. As a plethora ofdifferent transcript forms is available in databases, a first step to uncover the biology that drives AS is to identify thedifferent types of reflected splicing variation. In this work, we present a general definition of the AS event along with anotation system that involves the relative positions of the splice sites. This nomenclature univocally and dynamically assignsa specific ‘‘AS code’’ to every possible pattern of splicing variation. On the basis of this definition and the correspondingcodes, we have developed a computational tool (AStalavista) that automatically characterizes the complete landscape of ASevents in a given transcript annotation of a genome, thus providing a platform to investigate the transcriptome diversityacross genes, chromosomes, and species. Our analysis reveals that a substantial part—in human more than a quarter—ofthe observed splicing variations are ignored in common classification pipelines. We have used AStalavista to investigate andto compare the AS landscape of different reference annotation sets in human and in other metazoan species and found thatproportions of AS events change substantially depending on the annotation protocol, species-specific attributes, andcoding constraints acting on the transcripts. The AStalavista system therefore provides a general framework to conductspecific studies investigating the occurrence, impact, and regulation of AS.

Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders

Genetic and functional data indicate that variation in the expression of the neurotrophin-3 receptor gene (NTRK3) may have an impact on neuronal plasticity, suggesting a role for NTRK3 in the pathophysiology of anxiety disorders. MicroRNA (miRNA) posttranscriptional gene regulators act by base-pairing to specific sequence sites, usually at the 3'UTR of the target mRNA. Variants at these sites might result in gene expression changes contributing to disease susceptibility. We investigated genetic variation in two different isoforms of NTRK3 as candidate susceptibility factors for anxiety by resequencing their 3'UTRs in patients with panic disorder (PD), obsessive-compulsive disorder (OCD), and in controls. We have found the C allele of rs28521337, located in a functional target site for miR-485-3p in the truncated isoform of NTRK3, to be significantly associated with the hoarding phenotype of OCD. We have also identified two new rare variants in the 3'UTR of NTRK3, ss102661458 and ss102661460, each present only in one chromosome of a patient with PD. The ss102661458 variant is located in a functional target site for miR-765, and the ss102661460 in functional target sites for two miRNAs, miR-509 and miR-128, the latter being a brain-enriched miRNA involved in neuronal differentiation and synaptic processing. Interestingly, these two variants significantly alter the miRNA-mediated regulation of NTRK3, resulting in recovery of gene expression. These data implicate miRNAs as key posttranscriptional regulators of NTRK3 and provide a framework for allele-specific miRNA regulation of NTRK3 in anxiety disorders.

Evolutionary analysis of genes of two pathways involved in placental malaria infection

Placental malaria is a special form of malaria that causes up to 200,000 maternal and infant deaths every year. Previous studies show that two receptor molecules, hyaluronic acid and chondroitin sulphate A, are mediating the adhesion of parasite-infected erythrocytes in the placenta of patients, which is believed to be a key step in the pathogenesis of the disease. In this study, we aimed at identifying sites of malaria-induced adaptation by scanning for signatures of natural selection in 24 genes in the complete biosynthesis pathway of these two receptor molecules. We analyzed a total of 24 Mb of publicly available polymorphism data from the International HapMap project for three human populations with European, Asian and African ancestry, with the African population from a region of presently and historically high malaria prevalence. Using the methods based on allele frequency distributions, genetic differentiation between populations, and on long-range haplotype structure, we found only limited evidence for malaria-induced genetic adaptation in this set of genes in the African population; however, we identified one candidate gene with clear evidence of selection in the Asian population. Although historical exposure to malaria in this population cannot be ruled out, we speculate that it might be caused by other pathogens, as there is growing evidence that these molecules are important receptors in a variety of host-pathogen interactions. We propose to use the present methods in a systematic way to help identify candidate regions under positive selection as a consequence of malaria.