Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types

Despite the considerable progress in unraveling the genetic causes of amyotrophic lateral sclerosis (ALS), we do not fully understand the molecular mechanisms underlying the disease. We analyzed genome-wide data involving 78,500 individuals using a polygenic risk score approach to identify the biological pathways and cell types involved in ALS. This data-driven approach identified multiple aspects of the biology underlying the disease that resolved into broader themes, namely, neuron projection morphogenesis, membrane trafficking, and signal transduction mediated by ribonucleotides. We also found that genomic risk in ALS maps consistently to GABAergic interneurons and oligodendrocytes, as confirmed in human single-nucleus RNA-seq data. Using two-sample Mendelian randomization, we nominated six differentially expressed genes (ATG16L2, ACSL5, MAP1LC3A, MAPKAPK3, PLXNB2, and SCFD1) within the significant pathways as relevant to ALS. We conclude that the disparate genetic etiologies of this fatal neurological disease converge on a smaller number of final common pathways and cell types

Las negociaciones de servicios financieros de Chile

La integración de los servicios financieros y la apertura de la economía a los flujos de capitales es uno de los asuntos más complejos de administrar en el contexto de las negociaciones económicas internacionales contemporáneas. Al evaluar y discutir el impacto de los acuerdos suscritos por Chile en la década del 90, la atención pública se ha centrado en los efectos sobre el comercio de bienes, dejándose a un lado las dimensiones más cualitativas que se han incluido en alguno de ellos, como son las disciplinas en materia de inversiones, los servicios y la propiedad intelectual. El presente trabajo aborda, dentro del ámbito del comercio de servicios, las modalidades de negociación del sector de servicios financieros seguidas por Chile en sus acuerdos bilaterales negociados con la Unión Europea y los Estados Unidos.Instituto de Relaciones Internacionales (IRI

Local temperature in quantum thermal states

We consider blocks of quantum spins in a chain at thermal equilibrium, focusing on their properties from a thermodynamical perspective. Whereas in classical systems the temperature behaves as an intensive magnitude, a deviation from this behavior is expected in quantum systems. In particular, we see that under some conditions the description of the blocks as thermal states with the same global temperature as the whole chain fails. We analyze this issue by employing the quantum fidelity as a figure of merit, singling out in detail the departure from the classical behavior. The influence in this sense of zero-temperature quantum phase transitions can be clearly observed within this approach. Then we show that the blocks can be considered indeed as thermal states with a high fidelity, provided an effective local temperature is properly identified. Such a result originates from typical properties of reduced sub-systems of energy-constrained Hilbert spaces. Finally, the relation between local and global temperature is analyzed as a function of the size of the blocks and the system parameters.Comment: 10 pages, 10 figures. New fidelity measure with similar result

Brote de dermatofilosis en bovinos del altiplano de Jujuy, Argentina

Se describe un brote de dermatofilosis (Dermatophilus congolensis) en bovinos de la puna de Jujuy. El cuadro se presentó en un rodeo bovino criollo nativo, durante la estación lluviosa en el verano climático de la región. Los animales afectados presentaron dermatitis exudativa proliferativa no pruriginosa con formación de costras, afectando el espacio interdigital de los cuatro miembros, y en forma severa y localmente extensiva en los miembros posteriores y el interior de las fosas nasales. El diagnóstico se realizó en base a la presentación clínica, la identificación del agente causal en frotis obtenido del material dérmico, y las características epidemiológicas, considerando que los factores climáticos y las condiciones de manejo favorecieron la presentación de la enfermeda

Software infrastructure for solving non-linear partial differential equations and its application to modelling crustal fault systems

In this paper we will give a brief introduction into the Python-based modelling language escript. We will present a model for the dynamics of fault systems in the Earth's crust and then show how escript is used to implement solution algorithms for a dynamic as well as a quasi-static scenario

Footprints of fixed-gear fisheries in relation to rising whale entanglements on the U.S. West Coast

On the U.S. West Coast, reports of whales entangled in fishing gear increased dramatically in 2014. In this study, a time series of fishing activity maps was developed from 2009 to 2016 for the four fixed-gear fisheries most commonly implicated in entanglements. Maps were generated using vessel monitoring system (VMS) data linked to port-level landings databases, which were related to entangled whale reports over the same time period and with modelled distributions of humpback whales Megaptera novaeangliae Borowski. Over the full study period, neither marked increases in fishing activity nor changes in fisheries footprints within regions with high whale densities were detected. By contrast, a delayed fishery opening in California due to a harmful algal bloom in spring of 2016 led to ~5–7 times average levels of Dungeness crab Metacarcinus magister (Dana) fishing activity, which was consistent with a high rate of entanglement in that year. These results are consistent with current hypotheses that habitat compression caused by a marine heatwave increased the overlap of whales with fishing activity, despite minimal changes in the fisheries themselves. This study adds to literature on bycatch of protected species in otherwise sustainable fisheries, highlighting the value of using VMS data for reducing human–wildlife conflict in the ocean