El Pla d'Urgell

De la diagnosi comarcal elaborada per al Departament de Política Territorial i Obres Públiques, l'article remarca els elements singulars que serveixen per a la lectura del territori de la comarca del Pla d'Urgell. Aquests elements incideixen en les dinàmiques en joc i haurien de servir per a un planejament més acurat de la comarca. L'article destaca, en particular, cinc lectures: 1r) el Pla d'Urgell com el palmell de la gran plana continental ponentina, amb totes les implicacions mediambientals que el fet comporta i la seva incidència en les infraestructures i altres activitats; 2n) el país per excel•lència dels canals d'Urgell, que determinen una economia de regadiu amb problemes d'adaptaci��; 3r) un territori determinat per la colonitzaci�� en nuclis de poblaci�� que actuen com a bressol de civilitzaci�� i punt d'organitzaci�� de l'entorn; 4t) una comarca històricament condicionada per la situaci�� en el camí Ral de Madrid cap a Barcelona; 5è) el Pla d'Urgell com a entorn amb una forta cohesi�� urbana a l'entorn del nucli central i més dinàmic, Mollerussa, el qual alhora manté fortes sinergies amb la capital regional que és Lleida.

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

The 16p11.2 600 kb copy-number variants (CNVs) are associated with mirror phenotypes on BMI, head circumference, and brain volume and represent frequent genetic lesions in autism spectrum disorders (ASDs) and schizophrenia. Here we interrogated the transcriptome of individuals carrying reciprocal 16p11.2 CNVs. Transcript perturbations correlated with clinical endophenotypes and were enriched for genes associated with ASDs, abnormalities of head size, and ciliopathies. Ciliary gene expression was also perturbed in orthologous mouse models, raising the possibility that ciliary dysfunction contributes to 16p11.2 pathologies. In support of this hypothesis, we found structural ciliary defects in the CA1 hippocampal region of 16p11.2 duplication mice. Moreover, by using an established zebrafish model, we show genetic interaction between KCTD13, a key driver of the mirrored neuroanatomical phenotypes of the 16p11.2 CNV, and ciliopathy-associated genes. Overexpression of BBS7 rescues head size and neuroanatomical defects of kctd13 morphants, whereas suppression or overexpression of CEP290 rescues phenotypes induced by KCTD13 under- or overexpression, respectively. Our data suggest that dysregulation of ciliopathy genes contributes to the clinical phenotypes of these CNVs.

PracticaClic

El projecte va dirigit a fomentar l'aprenentatge fora de les aules, que tingui lloc en qualsevol part i en qualsevol moment, on l'estudiant pugui obtenir més coneixement d'una matèria obligatòria determinada. PracticaClic és un sistema educatiu que va dirigit a nens i nenes de primària, i en concret, en la matèria de les matemàtiques.

Disseny de circuit de proves de traçabilitat amb rfid

ITENE és un institut tecnològic de recerca situat a Paterna (València). Té una plantapilot especialitzada en logística on les empreses que ho vulguin (mitjançant convenis,en règim de lloguer, etc.), poden utilitzar les instal•lacions (magatzem intel•ligent,aplicacions RFID, etc.), per provar els seus productes i simular processos de logística itraçabilitat.En aquesta planta s'ha detectat la necessitat de poder provar nous productes cometiquetes, detectors i processadors equipats amb tecnologia RFID (Identificaci�� perRadiofreqüència). Aquesta tecnologia consisteix en passar informaci�� que conté unaetiqueta “intel•ligent” cap a un terminal (PC) mitjançant uns detectors que, perproximitat, poden llegir la informaci��. Per exemple, quan un cami�� ple de mercaderiesprèviament etiquetades, passa per un pòrtic amb detectors RFID, es genera unainformaci�� que passa directament a un terminal. Al moment es pot saber què porta elcami��, quantitat, color, mides, etc. Si això es combina amb un ERP, es pot descomptarde l'estoc en temps real. De fet s'utilitza per moltes aplicacions logística, control deprocessos de fabricaci��, traçabilitat de productes, etc.Per aquest motiu, ITENE, mitjançant el contacte de AIFOS SOLUTIONS S.L (empresaespecialitzada en RFID) ha encarregat un sistema de transportadors de banda per provarnoves solucions.L'objecte del present projecte consisteix en el disseny i automatitzaci�� d'un sistema de 4cintes transportadores 2 elevadors per tal de fer un circuit tancat per moure caixes en un“bucle” de forma automàtica. L'objectiu és “llençar” caixes plenes de productes (etiquetats amb RFID) mitjançant untransportador equipat amb un pòrtic que té instal•lats diversos detectors de radiofreqüència,i poder-ne provar la correcta detecci�� a diferents velocitats. Un “buffer” s'encarrega desubministrar les caixes d'una en una que, un cop acabat el circuit, tornen al lloc d'on hansortit. Per donar un producte per bo, es realitzen tests de diverses hores i se n'obté unaestadística de lectures bones/dolentes. Si la ràtio és la desitjada es dóna per bo elproducte.Per aconseguir un disseny correcte s'ha utilitzat diferents eines CAD per dimensionar elsistema de transportadors i els seus elements. Tota l'aplicaci�� està realitzada en 3Dmitjançant el software AutoCAD 3D. L'abast d'aquest projecte inclourà la soluci�� mecànica i pneumàtica del sistema, aixícom el seu muntatge i tot el referent a les normes de seguretat per tal que el sistemacompleixi la normativa referida a la seguretat de màquines

Migraci�� a programari lliure de la infraestructura de servidors de CETRAMSA

Aquest projecte s'emmarca dins el màster en Programari lliure de la UOC, en l'especialitat de xarxes i sistemes operatius. En ell he col·laborat amb CETRAMSA, empresa dedicada a la informaci�� i difusi�� al ciutadà de l'oferta de transport públic en l'àmbit metropolità de Barcelona, per dur a terme la migraci�� de la seva infraestructura de servidors a programari lliure.

Vanishing chromosomal inversion clines in Drosophila subobscura from Chile: Is behavioral thermoregulation to blame?

Chromosomal inversion clines paralleling the long-standing ones in native Palearctic populations of Drosophila subobscura evolved swiftly after this species invaded the Americas in the late 1970s and early 1980s. However, the new clines did not consistently continue to converge on the Old World baseline. Our recent survey of Chilean populations of D. subobscura shows that inversion clines have faded or even changed sign with latitude. Here, we investigate the hypothesis that this fading of inversion clines might be due to the Bogert effect, namely, that flies' thermoregulatory behavior has eventually compensated for environmental variation in temperature, thus buffering selection on thermal-related traits. We show that latitudinal divergence in thermal preference (T-p) has evolved in Chile for females, with higher-latitude flies having a lower mean T-p. Plastic responses in T-p also lessen latitudinal thermal variation because flies developed at colder temperatures prefer warmer microclimates. Our results are consistent with the idea that active behavioral thermoregulation might buffer environmental variation and reduce the potential effect of thermal selection on other traits as chromosomal arrangements.

Educar contra Auschwitz

No descobrirem res si afirmem que el tema de la Shoah no constitueix cap novetat pedagògica: els darrers anys s"ha generat una important literatura que ha considerat Auschwitz un referent ineludible per a l"educaci�� contemporània1. De fet, aquesta producci�� pedagògica ha abordat d"una o altra manera la tragèdia de la Segona Guerra Mundial i, molt especialment, el martiri o holocaust del poble jueu amb la mort en els camps d"extermini i en les marxes de la mort de milers i milers de víctimes innocents, en especial, ancians, dones i infants. Altrament, aquest fet no ens ha de fer perdre tampoc la memòria d"aquells altres col·lectius que com ara els gitanos, els homosexuals, els testimonis de Jehovà, els opositors al nazisme, els malalts mentals, i d"altres, també van ser perseguits i conduïts fins als forns crematoris. I això més encara quan l"any 2005 es van complir seixanta anys del fi d"aquell malson amb el descobriment dels camps d"extermini (Lagers) per les tropes aliades -sobretot les sovi��tiques en el front de l"Est, quan el 27 de gener de 1945 van arribar a Auschwitz-, que van treure a la llum un món d"horror i barbàrie sense precedents en la història de la humanitat.

The REporting of Studies Conducted Using Observational Routinely-Collected Health Data (RECORD) Statement: Methods for Arriving at Consensus and Developing Reporting Guidelines.

OBJECTIVE: Routinely collected health data, collected for administrative and clinical purposes, without specific a priori research questions, are increasingly used for observational, comparative effectiveness, health services research, and clinical trials. The rapid evolution and availability of routinely collected data for research has brought to light specific issues not addressed by existing reporting guidelines. The aim of the present project was to determine the priorities of stakeholders in order to guide the development of the REporting of studies Conducted using Observational Routinely-collected health Data (RECORD) statement. METHODS: Two modified electronic Delphi surveys were sent to stakeholders. The first determined themes deemed important to include in the RECORD statement, and was analyzed using qualitative methods. The second determined quantitative prioritization of the themes based on categorization of manuscript headings. The surveys were followed by a meeting of RECORD working committee, and re-engagement with stakeholders via an online commentary period. RESULTS: The qualitative survey (76 responses of 123 surveys sent) generated 10 overarching themes and 13 themes derived from existing STROBE categories. Highest-rated overall items for inclusion were: Disease/exposure identification algorithms; Characteristics of the population included in databases; and Characteristics of the data. In the quantitative survey (71 responses of 135 sent), the importance assigned to each of the compiled themes varied depending on the manuscript section to which they were assigned. Following the working committee meeting, online ranking by stakeholders provided feedback and resulted in revision of the final checklist. CONCLUSIONS: The RECORD statement incorporated the suggestions provided by a large, diverse group of stakeholders to create a reporting checklist specific to observational research using routinely collected health data. Our findings point to unique aspects of studies conducted with routinely collected health data and the perceived need for better reporting of methodological issues.

Inici d'un projecte de construcci�� de programari per a conservatoris de música

Desenvolupament de l'etapa d'inici d'un projecte de construcci�� de programari per a la gesti�� d'equips directius de conservatoris de música. Anàlisi dels requisits per a la futura implantaci�� d'un aplicatiu que respongui a les necessitats de la gesti�� acadèmica i administrativa de l'organitzaci��.

Notes sobre la flora de la Terra Baixa Catalana.

Durant les nostres excursions hem aplegat una bona quantitat de dades sobre la flora catalana. D'aquestes dades hem seleccionat les que creiem que son mes intéressants tant per la seva novetat com per la seva raresa. Llevat de molt poques excepcions ara només aportem citacions de plantes de la terra baixa i, en especial, de les serralades costeres catalanes. Ultra la indicaci�� de les dades de localitzaci�� de cada pianta (comarca, municipi, indret concret i altitud) i d'alguna indicaci�� de l'habitat o l'ecologia, hi afegim la notaci�� del quadrat U.T.M. de 10 km de costat. Remarquem que en alguns casos, quan ens ha estât possible, hi afegim, entre claudàtors, la xifra del quadrat d'U.T.M. d'un quilòmetre de costat. A la llista que segueix, les espècies són disposades per ordre alfabètic.

Multilayered organization of jasmonate signalling in the regulation of root growth.

Physical damage can strongly affect plant growth, reducing the biomass of developing organs situated at a distance from wounds. These effects, previously studied in leaves, require the activation of jasmonate (JA) signalling. Using a novel assay involving repetitive cotyledon wounding in Arabidopsis seedlings, we uncovered a function of JA in suppressing cell division and elongation in roots. Regulatory JA signalling components were then manipulated to delineate their relative impacts on root growth. The new transcription factor mutant myc2-322B was isolated. In vitro transcription assays and whole-plant approaches revealed that myc2-322B is a dosage-dependent gain-of-function mutant that can amplify JA growth responses. Moreover, myc2-322B displayed extreme hypersensitivity to JA that totally suppressed root elongation. The mutation weakly reduced root growth in undamaged plants but, when the upstream negative regulator NINJA was genetically removed, myc2-322B powerfully repressed root growth through its effects on cell division and cell elongation. Furthermore, in a JA-deficient mutant background, ninja1 myc2-322B still repressed root elongation, indicating that it is possible to generate JA-responses in the absence of JA. We show that NINJA forms a broadly expressed regulatory layer that is required to inhibit JA signalling in the apex of roots grown under basal conditions. By contrast, MYC2, MYC3 and MYC4 displayed cell layer-specific localisations and MYC3 and MYC4 were expressed in mutually exclusive regions. In nature, growing roots are likely subjected to constant mechanical stress during soil penetration that could lead to JA production and subsequent detrimental effects on growth. Our data reveal how distinct negative regulatory layers, including both NINJA-dependent and -independent mechanisms, restrain JA responses to allow normal root growth. Mechanistic insights from this work underline the importance of mapping JA signalling components to specific cell types in order to understand and potentially engineer the growth reduction that follows physical damage.

Inference of Evolutionary Forces Acting on Human Biological Pathways.

Because natural selection is likely to act on multiple genes underlying a given phenotypic trait, we study here the potential effect of ongoing and past selection on the genetic diversity of human biological pathways. We first show that genes included in gene sets are generally under stronger selective constraints than other genes and that their evolutionary response is correlated. We then introduce a new procedure to detect selection at the pathway level based on a decomposition of the classical McDonald-Kreitman test extended to multiple genes. This new test, called 2DNS, detects outlier gene sets and takes into account past demographic effects and evolutionary constraints specific to gene sets. Selective forces acting on gene sets can be easily identified by a mere visual inspection of the position of the gene sets relative to their two-dimensional null distribution. We thus find several outlier gene sets that show signals of positive, balancing, or purifying selection but also others showing an ancient relaxation of selective constraints. The principle of the 2DNS test can also be applied to other genomic contrasts. For instance, the comparison of patterns of polymorphisms private to African and non-African populations reveals that most pathways show a higher proportion of nonsynonymous mutations in non-Africans than in Africans, potentially due to different demographic histories and selective pressures.

Population Variation and Genetic Control of Modular Chromatin Architecture in Humans.

Chromatin state variation at gene regulatory elements is abundant across individuals, yet we understand little about the genetic basis of this variability. Here, we profiled several histone modifications, the transcription factor (TF) PU.1, RNA polymerase II, and gene expression in lymphoblastoid cell lines from 47 whole-genome sequenced individuals. We observed that distinct cis-regulatory elements exhibit coordinated chromatin variation across individuals in the form of variable chromatin modules (VCMs) at sub-Mb scale. VCMs were associated with thousands of genes and preferentially cluster within chromosomal contact domains. We mapped strong proximal and weak, yet more ubiquitous, distal-acting chromatin quantitative trait loci (cQTL) that frequently explain this variation. cQTLs were associated with molecular activity at clusters of cis-regulatory elements and mapped preferentially within TF-bound regions. We propose that local, sequence-independent chromatin variation emerges as a result of genetic perturbations in cooperative interactions between cis-regulatory elements that are located within the same genomic domain.

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients' molecular and clinical diagnoses. In this study, we wanted to clinically characterize and investigate the molecular etiology of an atypical form of autosomal recessive retinal dystrophy in two consanguineous Spanish families. Affected members of the respective families exhibited an array of clinical features including reduced visual acuity, photophobia, defective color vision, reduced or absent ERG responses, macular atrophy and pigmentary deposits in the peripheral retina. Genetic investigation included autozygosity mapping coupled with exome sequencing in the first family, whereas autozygome-guided candidate gene screening was performed by means of Sanger DNA sequencing in the second family. Our approach revealed nucleotide changes in CDHR1; a homozygous missense variant (c.1720C > G, p.P574A) and a homozygous single base transition (c.1485 + 2T > C) affecting the canonical 5' splice site of intron 13, respectively. Both changes co-segregated with the disease and were absent among cohorts of unrelated control individuals. To date, only five mutations in CDHR1 have been identified, all resulting in premature stop codons leading to mRNA nonsense mediated decay. Our work reports two previously unidentified homozygous mutations in CDHR1 further expanding the mutational spectrum of this gene.

Sobre les avellanoses als Pirineus catalans

Els bosquets de Corylus avellana dels Pirineus Catalans representen, malgrat llur fisiognomía uniforme, fases de degradaci�� o de reconstituci�� de diversos boscos caducifolis. Atenent a aquest fet i a llur composici�� florística poc específica, sembla convenient de tractar-los com a variants de Corylus del Buxo-Quercetum pubescentis, del Buxo-Fagetum, del Brachypodio-Fraxinetum,... Cal excloure potser d'aquesta generalitzaci�� L¿Hepatico-Coryletum, comunitat de difícil filiaci�� i caracteritzaci�� sintaxonómiques, pròpia de l'Alta Cerdanya i del Conflent. I el Scillo-Fagetum actaeo-coryletosum, subass. nova, que representa, igual que el síntàxon anterior, una vicariant de les fagedes en valls internes pirinenques amb clima continentalitzat, mancades de faig.