An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age. Using a genome-wide association study approach with three cases and 170 breed matched controls, a suggestive locus for sensory neuropathy was identified that was followed up using a genome sequencing approach. An inversion disrupting the candidate gene FAM134B was identified. Genotyping of additional cases and controls and RNAseq analysis provided strong evidence that the inversion is causal. Evidence of cryptic splicing resulting in novel exon transcription for FAM134B was identified by RNAseq experiments. This investigation demonstrates the identification of a novel sensory neuropathy associated mutation, by mapping using a minimal set of cases and subsequent genome sequencing. Through mutation screening, it should be possible to reduce the frequency of or completely eliminate this debilitating condition from the Border Collie breed population

Agenda pública arquitectura, ciudad, desarrollo

El contenido de “AGENDA PÚBLICA” constituye el cierre del trabajo realizado en Revista Cientodiez entre los años 2006 y 2009. La motivación detrás de este proceso consistió en tender puentes entre problemáticas inicialmente surgidas en el campo disciplinar de la arquitectura, para avanzar hacia la construcción de agendas de desarrollo. El esfuerzo se concentró en dar algunos esbozos de respuesta a las demandas que estas agendas presentan para todos quienes aspiramos a participar y aportar en ellas

Soft-Bottom macrobenthic communities of the Vitória Bay estuarine system, South-eastern Brazil

O presente trabalho analisa e descreve a estrutura das associações faunísticas macrobênticas (epifauna e infauna) do sistema estuarino da Baía de Vitória, sudeste do Brasil, de Janeiro de 1998 a Junho de 1999. Amostras replicadas em níveis de entre-marés e sublitoral foram coletadas em intervalos de três meses em dez estações. Foram caracterizadas as composições dos sedimentos de entre-marés e sublitoral. Os parâmetros físico-químicos da água foram medidos in situ. Foram coletados 10.695 indivíduos, compreendendo a 144 taxa. Os grupos mais abundantes foram moluscos, crustáceos e poliquetos. As espécies mais abundantes foram os bivalves Anomalocardia brasiliana, Mytella guyanensis e M. falcata. Localmente, descargas significativas de esgoto doméstico causaram um aumento da quantidade de matéria orgânica no sedimento (até 30%) e baixa concentração de oxigênio dissolvido na água (< 1mg.l-1). Próximo às duas entradas da baía, o alto hidrodinamismo e a presença de areia grossa reduziram os efeitos deletérios dos aportes de esgotos. A riqueza (S), a diversidade (H') de espécies e a abundância total (A), decresceram das estações externas do estuário (22 < S < 72; 1.99 < H' < 2.85; 320 < A < 1737) em direção às estações internas (2 < S < 45; 0.59 < H' < 2.67; 2 < A < 1317), onde a salinidade e oxigênio dissolvido foram menores e as quantidades de matéria orgânica maiores.The present work describes and analyses the structure of the macrobenthic epi- and infaunal assemblage of the estuarine system of Vitória Bay, South-eastern Brazil, from January 1998 to June 1999. Replicated sampling at intertidal and subtidal levels was conducted quarterly at ten stations. Intertidal and subtidal sediment composition was characterised. Water physico-chemical parameters were measured in situ. A total of 10,695 individuals, belonging to 144 taxa, were collected. Molluscs, crustaceans and polychaetes were the most abundant groups. The bivalves Anomalocardia brasiliana, Mytella guyanensis and M. falcata were the most abundant species. Locally, significant discharges of residential and industrial wastewater resulted in high organic content in the sediment (up to 30%) and low dissolved oxygen concentration in the water (< 1mg.l-1). Near the two entrances of the bay, high hydrodynamic activity and coarse sand reduced the detrimental effects of raw and treated sewage inputs. Species richness (S), diversity (H') and total abundance (A) decreased from outer-bay stations (22 < S < 72; 1.99 < H' < 2.85; 320 < A < 1737) towards inner-bay stations (2 < S < 45; 0.59 < H' < 2.67; 2 < A < 1317), where salinity and dissolved oxygen were lowest and organic matter content highest

The XMM-LSS Survey: A well controlled X-ray cluster sample over the D1 CFHTLS area

We present the XMM-LSS cluster catalogue corresponding to the CFHTLS D1 area. The list contains 13 spectroscopically confirmed, X-ray selected galaxy clusters over 0.8 deg2 to a redshift of unity and so constitutes the highest density sample of clusters to date. Cluster X-ray bolometric luminosities range from 0.03 to 5x10^{44} erg/s. In this study, we describe our catalogue construction procedure: from the detection of X-ray cluster candidates to the compilation of a spectroscopically confirmed cluster sample with an explicit selection function. The procedure further provides basic X-ray products such as cluster temperature, flux and luminosity. We detected slightly more clusters with a (0.5-2.0 keV) X-ray fluxes of >2x10^{-14} erg/s/cm^{-2} than we expected based on expectations from deep ROSAT surveys. We also present the Luminosity-Temperature relation for our 9 brightest objects possessing a reliable temperature determination. The slope is in good agreement with the local relation, yet compatible with a luminosity enhancement for the 0.15 < z< 0.35 objects having 1 < T < 2 keV, a population that the XMM-LSS is identifying systematically for the first time. The present study permits the compilation of cluster samples from XMM images whose selection biases are understood. This allows, in addition to studies of large-scale structure, the systematic investigation of cluster scaling law evolution, especially for low mass X-ray groups which constitute the bulk of our observed cluster population. All cluster ancillary data (images, profiles, spectra) are made available in electronic form via the XMM-LSS cluster database.Comment: 12 pages 5 figures, MNRAS accepted. The paper with full resolution cluster images is available at http://vela.astro.ulg.ac.be/themes/spatial/xmm/LSS/rel_pub_e.htm

The XMM-LSS catalogue: X-ray sources and associated optical data. Version I

Following the presentation of the XMM-LSS X-ray source detection package by Pacaud et al., we provide the source lists for the first 5.5 surveyed square degrees. The catalogues pertain to the [0.5-2] and [2-10] keV bands and contain in total 3385 point-like or extended sources above a detection likelihood of 15 in either band. The agreement with deep logN-logS is excellent. The main parameters considered are position, countrate, source extent with associated likelihood values. A set of additional quantities such as astrometric corrections and fluxes are further calculated while errors on the position and countrate are deduced from simulations. We describe the construction of the band-merged catalogue allowing rapid sub-sample selection and easy cross-correlation with external multi-wavelength catalogues. A small optical CFHTLS multi-band subset of objects is associated wich each source along with an X-ray/optical overlay. We make the full X-ray images available in FITS format. The data are available at CDS and, in a more extended form, at the Milan XMM-LSS database.Comment: 13 pages, 7 figures and 11 tables (fig. 1 and 6 are enclosed in reduced resolution), MNRAS Latex, accepted by MNRA

Organizing health care: an ethical perspective

Indexación: Web of Science; Scielo.Health Care at population level is a complex problem. Having this in mind, the purpose of this paper is to focus on the goods that are ethically relevant in the process of caring for health at this level. We briefly analyze some of the Chilean health statistics that, although they show important improvements along the years, demonstrate that certain conditions are to be deemed as inadequate by both healthcare providers and patients. Ethics is a central component to determine how to structure and organize health care systems and how they should operate. We emphasize Human Dignity as an ethical corner stone of the Health Care System, along with other important values such as Justice and Humanization, under the scope of the Ends of Medicine, and other components such as technical competence of providers and the financing of the whole process. We conclude that as far as a health care system is organized in a way that medical practice is well ordered, primarily and fundamentally according the Ends of Medicine and the good of persons, such a health care system is ethically adequate.http://ref.scielo.org/9bt3z

Gene editing of PKLR gene in human hematopoietic progenitors through 5' and 3' UTR modified TALEN mRNA

TheauthorswouldliketothankMiguelA.MartinforthecarefulmaintenanceofNSGmice,andRebecaSa ́nchezandOmairaAlberquillafortheirtechnicalassistanceinflowcytometry.TheauthorsalsothankFundacio ́n Botı ́n forpromotingtranslationalresearchattheHemato-poieticInnovativeTherapiesDivisionoftheCIEMATPyruvate Kinase Deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PKLR gene, which encodes the erythroid specific Pyruvate Kinase enzyme. Erythrocytes from PKD patients show an energetic imbalance and are susceptible to hemolysis. Gene editing of hematopoietic stem cells (HSCs) would provide a therapeutic benefit and improve safety of gene therapy approaches to treat PKD patients. In previous studies, we established a gene editing protocol that corrected the PKD phenotype of PKD-iPSC lines through a TALEN mediated homologous recombination strategy. With the goal of moving toward more clinically relevant stem cells, we aim at editing the PKLR gene in primary human hematopoietic progenitors and hematopoietic stem cells (HPSCs). After nucleofection of the gene editing tools and selection with puromycin, up to 96% colony forming units showed precise integration. However, a low yield of gene edited HPSCs was associated to the procedure. To reduce toxicity while increasing efficacy, we worked on i) optimizing gene editing tools and ii) defining optimal expansion and selection times. Different versions of specific nucleases (TALEN and CRISPR-Cas9) were compared. TALEN mRNAs with 5' and 3' added motifs to increase RNA stability were the most efficient nucleases to obtain high gene editing frequency and low toxicity. Shortening ex vivo manipulation did not reduce the efficiency of homologous recombination and preserved the hematopoietic progenitor potential of the nucleofected HPSCs. Lastly, a very low level of gene edited HPSCs were detected after engraftment in immunodeficient (NSG) mice. Overall, we showed that gene editing of the PKLR gene in HPSCs is feasible, although further improvements must to be done before the clinical use of the gene editing to correct PKD.S

Algunas amenazas actuales a la confidencialidad en medicina

Social, technical and legal conditions of the current practice of medicine make it necessary to insist on certain actions and circumstances that may jeopardize the confidentiality of information, offered by patients to their health providers. Therefore, some effects of the current Chilean law are analyzed in this respect, regarding access to data from the clinical record of a patient. Also, the risks of putting certain data on social networking sites are analyzed, as well as some of its effects on clinical practice. The reasons because of mandatory reporting of diseases, meaning danger to public health, is allowed, are mentioned. We also discuss the difficulties involved in managing the results of preventative health screenings and its knowledge by third parties, as well as some possible violations of personal privacy, regarding dissemination of some people health information and its further mention or figuration in mass media. We conclude that it is a must for both physicians and other health team members, to safeguard confidentiality of data to which they have had access, as well as the need to know the relevant law, in order to respect human dignity of patients, each one as a person. We address the attention to the possibility that, practicing in a different way, it could endanger the reliability of clinical records, also impairing the quality of people’s health care. (Rev Med Chile 2015; 143: 358-366) Key words: Access to Information; Confidentiality; Information Dissemination; Medical Records; Social Networkin