O-chromosome lethal frequencies in Serbian and Montenegrin Drosophila subobscura populations

Lethal chromosomal frequencies were obtained from three Drosophila subobscura samples from the Mt. Avala (Serbia) population in September 2003 (0.218), June 2004 (0.204) and September 2004 (0.250). These values and those from other Balkan populations studied previously (Petnica, Kamariste, Zanjic and Djerdap) were used to analyze the possible effect of population, year, month and altitude above sea level on lethal chromosomal frequencies. According to ANOVAS no effect were observed. Furthermore, the lethal frequencies of the Balkan populations did not vary according to latitude. This is probably due to the relative proximity and high gene flow between these populations. From a joint study of all the Palearctic D. subobscura populations so far analyzed, it can be deduced that the Balkan populations are located in the central area of the species distribution. Finally, it seems that lethal chromosomal frequencies are a consequence of the genetic structure of the populations.

Euphorbia L. subsect. Esula (Boiss. in DC.) Pax in the Iberian Peninsula. Leaf surface, chromosome numbers and taxonomic treatment

Presentem l'estudi taxonòmic dels représentants d'Euphorbia subsect. Esula a la Península Ibèrica. Prèviament, s'inclou un primer capítol dedicai a l'estudi de les epidermis foliars i un segon capítol sobre nombres cromosòmics...

Auto- and allopolyploidy in Centaurea sect. Acrocentron s.l. (Asteraceae, Cardueae): karyotype and chromosome banding pattern analyses

Dysploidy and polyploidy are well documented in the large genus Centaurea, especially in sect. Acrocentron and in a small group of species from the Iberian Peninsula described as sect. Chamaecyanus, closely related to Acrocentron. We have explored two interesting cases of polyploid series in both sections: the polyploid series of Centaurea toletana in sect. Chamaecyanus and the series of C. ornata group in sect. Acrocentron. We have carried out a karyological study using both classic karyotype analyses and chromosome banding with fluorochromes.

Economía y cultura de la accesibilidad: demanda de viviendas sin barreras en 13 ciudades españolas

El estudio se plantea conocer cuáles son los mecanismos de relación entre los habitantes de un conjunto de ciudades españolas y la accesibilidad en su entorno más íntimo: el del propio hogar. Para ello ha querido analizar el conocimiento y la necesidad percibida de eliminación de barreras en todo tipo de hogares, las condiciones bajo las cuales esa necesidad se transforma en demanda y qué elementos influyen para que la accesibilidad sea un atributo discernible de calidad de vida en la vivienda. Si bien es obvio que estos elementos no pueden ser abarcados plenamente por este estudio ni reducidos al ámbito de un solo enfoque, hemos querido dar una visión amplia y para ello hemos utilizado metodologías diversas que raras veces se utilizan conjuntamente, buscando la complementariedad y también el contraste. Por ello en el trabajo, aún partiendo desde la economía, se han incorporado otros enfoques: la perspectiva de la antropología social e incluso de la psicología ambiental, con el fin de comprender mejor la forma de vivir la vivienda, el lugar que ocupa la accesibilidad entre las preferencias de los hogares, y cuáles son sus particularidades locales.

Jornades del moviment per la pau. Barcelona, 13 i 14 de novembre de 2009

Aquesta relatoria correspon a les Jornades del Moviment per la Pau coorganitzades per la Federació Catalana d’ONG per la Pau i l’Institut Català Internacional per la Pau, i que es van desenvolupar a Barcelona durant els dies 13 i 14 de novembre de 2009. L'objectiu era reflexionar i debatre sobre els plantejaments dels quals parteix el moviment, la identificació de noves realitats, els reptes de futur, i la possible adequació a nous enfocaments o estratègies per incrementar la incidència transformadora en el camp social i polític.

Fascitis eosinofílica. A propósito de 13 casos.

Es tracta de la descripció d'una sèrie de 13 pacients amb fascitis eosinofílica diagnosticats en un hospital universitari entre 1989 i 2009. És una síndrome esclerodermiforme que es caracteritza per induració cutània i engruiximent i inflamació de la fàscia profunda. Es descriuen les característiques clíniques, el tractament rebut i l'evolució de 9 homes i 4 dones, amb una edat mitjana de 50 anys. Es va realitzar biòpsia profunda en tots els casos i els canvis van ser compatibles amb fascitis eosinofílica. Les característiques descrites en aquesta sèrie no difereixen de les descrites per altres autors.

Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism

Background: The human chromosome 8p23.1 region contains a 3.8–4.5 Mb segment which can be found in different orientations (defined as genomic inversion) among individuals. The identification of single nucleotide polymorphisms (SNPs) tightly linked to the genomic orientation of a given region should be useful to indirectly evaluate the genotypes of large genomic orientations in the individuals. Results: We have identified 16 SNPs, which are in linkage disequilibrium (LD) with the 8p23.1 inversion as detected by fluorescent in situ hybridization (FISH). The variability of the 8p23.1 orientation in 150 HapMap samples was predicted using this set of SNPs and was verified by FISH in a subset of samples. Four genes (NEIL2, MSRA, CTSB and BLK) were found differentially expressed (p<0.0005) according to the orientation of the 8p23.1 region. Finally, we have found variable levels of mosaicism for the orientation of the 8p23.1 as determined by FISH. Conclusion: By means of dense SNP genotyping of the region, haplotype-based computational analyses and FISH experiments we could infer and verify the orientation status of alleles in the 8p23.1 region by detecting two short haplotype stretches at both ends of the inverted region, which are likely the relic of the chromosome in which the original inversion occurred. Moreover, an impact of 8p23.1 inversion on gene expression levels cannot be ruled out, since four genes from this region have statistically significant different expression levels depending on the inversion status. FISH results in lymphoblastoid cell lines suggest the presence of mosaicism regarding the 8p23.1 inversion.

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

The goals of the human genome project did not include sequencing of the heterochromatic regions. We describe here an initial sequence of 1.1 Mb of the short arm of human chromosome 21 (HSA21p), estimated to be 10% of 21p. This region contains extensive euchromatic-like sequence and includes on average one transcript every 100 kb. These transcripts show multiple inter- and intrachromosomal copies, and extensive copy number and sequence variability. The sequencing of the "heterochromatic" regions of the human genome is likely to reveal many additional functional elements and provide important evolutionary information.

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.

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Background: Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects. Results: Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR) phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb), all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%). Conclusion:This tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.

III Congreso ibérico sobre gestión y planificación del agua. La directiva marco del agua: realidades y futuros. Sevilla, del 13 al 17 de noviembre de 2002

Entre els dies 13 i 17 de novembre de 2002 va tenir lloc a la ciutat de Sevilla el III Congrés Ibèric sobre Gestió i Planificació de l’Aigua, que, en aquesta ocasió, portava per títol «La Directiva Marc de l’Aigua: realitats i futurs». El congrés fou organitzat per la Fundación Nueva Cultura del Agua, amb la col•laboració de la Universidad de Sevilla i d’una àmplia sèrie d’institucions relacionades amb la investigació o gestió d’aquest recurs. Considerant l’anàlisi i la diagnosi de la situació actual contingudes a les edicions anteriors (Saragossa 1998 i Porto 2000) i l’ampli debat dels últims anys, el III Congrés Ibèric es caracteritza per un plantejament d’avenç i propostes i per incloure alguns dels aspectes de la política de l’aigua menys atesos fins aleshores

Una lectura de la Llei 10/2001, de 13 de juliol, d'arxius i documents

S'analitza el procés d'elaboració de la nova Llei d'arxius destacant les principals modificacions que recull el text definitiu en relació al projecte. Es comenten també els punts més destacats de la Llei al voltant de tres eixos principals: la definició del Sistema d'Arxius de Catalunya, el sistema de gestió documental i l'accés als documents del patrimoni documental català.

Informe sobre la Jornada de presentació de la Llei 10/2001, de 13 de juliol, d'arxius i documents (Escola d'Administració Pública de Catalunya. Barcelona, 17 de gener de 2002)

El 17 de gener de 2002, l'Escola d'Administració Pública de Catalunya, el Servei d'Arxius de la Direcció General de Patrimoni Cultural de la Generalitat de Catalunya i l'Associació d'Arxivers de Catalunya (AAC) van organitzar una jornada de divulgació, reflexió i debat sobre la Llei 10/2002, de 13 de juliol, d'arxius i documents. L'objectiu de la Jornada era donar a conèixer als professionals dels arxius aquesta llei i es va centrar a analitzar-ne l'abast, la incidència i les implicacions més rellevants. Emmarcada en la línia de la formació interdepartamental de l'Escola d'Administració Pública de Catalunya, la Jornada tenia com a destinataris els arxivers de l'Administració de la Generalitat de Catalunya, de l'Administració local i d'altres institucions públiques.

O-chromosome lethal frequencies in Serbian and Montenegrin Drosophila subobscura populations

Lethal chromosomal frequencies were obtained from three Drosophila subobscura samples from the Mt. Avala (Serbia) population in September 2003 (0.218), June 2004 (0.204) and September 2004 (0.250). These values and those from other Balkan populations studied previously (Petnica, Kamariste, Zanjic and Djerdap) were used to analyze the possible effect of population, year, month and altitude above sea level on lethal chromosomal frequencies. According to ANOVAS no effect were observed. Furthermore, the lethal frequencies of the Balkan populations did not vary according to latitude. This is probably due to the relative proximity and high gene flow between these populations. From a joint study of all the Palearctic D. subobscura populations so far analyzed, it can be deduced that the Balkan populations are located in the central area of the species distribution. Finally, it seems that lethal chromosomal frequencies are a consequence of the genetic structure of the populations.

Identification by Real-time PCR of 13 mature microRNAs differentially expressed in colorectal cancer and non-tumoral tissues

MicroRNAs (miRNAs) are short non-coding RNA molecules playing regulatory roles by repressing translation or cleaving RNA transcripts. Although the number of verified human miRNA is still expanding, only few have been functionally described. However, emerging evidences suggest the potential involvement of altered regulation of miRNA in pathogenesis of cancers and these genes are thought to function as both tumours suppressor and oncogenes. In our study, we examined by Real-Time PCR the expression of 156 mature miRNA in colorectal cancer. The analysis by several bioinformatics algorithms of colorectal tumours and adjacent non-neoplastic tissues from patients and colorectal cancer cell lines allowed identifying a group of 13 miRNA whose expression is significantly altered in this tumor. The most significantly deregulated miRNA being miR-31, miR-96, miR-133b, miR-135b, miR-145, and miR-183. In addition, the expression level of miR-31 was correlated with the stage of CRC tumor. Our results suggest that miRNA expression profile could have relevance to the biological and clinical behavior of colorectal neoplasia.