Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive human disease due to mutations in the thymidine phosphorylase (TP) gene. TP enzyme catalyzes the reversible phosphorolysis of thymidine to thymine and 2-deoxy-D-ribose 1-phosphate. We present evidence that thymidine metabolism is altered in MNGIE. TP activities in buffy coats were reduced drastically in all 27 MNGIE patients compared with 19 controls. All MNGIE patients had much higher plasma levels of thymidine than normal individuals and asymptomatic TP mutation carriers. In two patients, the renal clearance of thymidine was approximately 20% that of creatinine, and because hemodialysis demonstrated that thymidine is ultrafiltratable, most of the filtered thymidine is likely to be reabsorbed by the kidney. In vitro, fibroblasts from controls catabolized thymidine in medium; by contrast, MNGIE fibroblasts released thymidine. In MNGIE, severe impairment of TP enzyme activity leads to increased plasma thymidine. In patients who are suspected of having MNGIE, determination of TP activity in buffy coats and thymidine levels in plasma are diagnostic. We hypothesize that excess thymidine alters mitochondrial nucleoside and nucleotide pools leading to impaired mitochondrial DNA replication, repair, or both. Therapies to reduce thymidine levels may be beneficial to MNGIE patients

Diseño de la asignatura Trabajo Fin de Grado en Geología (Facultad de Ciencias, UA)

Con la implantación en el año académico 2013-14 del cuarto y último curso del grado en Geología en la Universidad de Alicante, se ha implementado la asignatura obligatoria de Trabajo Fin de Grado en Geología (TFGG) con el objetivo de que el estudiante demuestre las competencias adquiridas durante sus estudios de geología, tanto las específicas de la titulación, como las competencias generales o transversales, tal como son las ligadas a la búsqueda y organización de documentación, a la redacción clara y concisa de una memoria escrita que recoja un trabajo original del alumno y a la presentación en público de su trabajo de manera clara y adecuada. Siguiendo las directrices que se establecen, tanto en la Facultad de Ciencias, como en la Universidad de Alicante se ha diseñado una asignatura Trabajo Fin de Grado con varias modalidades o líneas de actividad docente. Se ha constituido una Comisión de Trabajo de Fin de Grado en Geología (CTFGG) con el propósito principal de organizar y supervisar la asignación, seguimiento y evaluación de los trabajos

Recursos multimedia de apoyo a las prácticas de fósiles en el Grado de Biología

El reconocimiento de fósiles forma parte de los contenidos de la asignatura Geología del Grado en Biología. En esta asignatura, gestionada por el Departamento de Ciencias de la Tierra y del Medio Ambiente de la UA, se imparten 6 créditos de contenidos teóricos y prácticos; de ellos 0,8 créditos corresponden a prácticas de laboratorio con fósiles, donde los estudiantes deben aprender los criterios de descripción e interpretación paleontológica para aplicarlos correctamente a la colección docente de muestras fósiles. Dada la diversidad de contenidos que se imparten en esta asignatura, las horas presenciales de estas prácticas son escasas, lo que dificulta la adquisición de las habilidades necesarias para el reconocimiento de fósiles. Por esta razón, el objetivo de esta red es crear un recurso multimedia que sirva como material docente complementario para las prácticas de paleontología de la asignatura Geología. De esta manera, se facilita al alumno el acceso a la colección de fósiles de la asignatura durante las horas no presenciales, así como los contenidos teóricos ligados a las prácticas de paleontología, favoreciendo el autoaprendizaje que le ayude tanto en el correcto seguimiento de la asignatura como en la preparación de los controles y pruebas de evaluación

The Fourteenth Data Release of the Sloan Digital Sky Survey: First Spectroscopic Data from the extended Baryon Oscillation Spectroscopic Survey and from the second phase of the Apache Point Observatory Galactic Evolution Experiment

The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) has been in operation since July 2014. This paper describes the second data release from this phase, and the fourteenth from SDSS overall (making this, Data Release Fourteen or DR14). This release makes public data taken by SDSS-IV in its first two years of operation (July 2014-2016). Like all previous SDSS releases, DR14 is cumulative, including the most recent reductions and calibrations of all data taken by SDSS since the first phase began operations in 2000. New in DR14 is the first public release of data from the extended Baryon Oscillation Spectroscopic Survey (eBOSS); the first data from the second phase of the Apache Point Observatory (APO) Galactic Evolution Experiment (APOGEE-2), including stellar parameter estimates from an innovative data driven machine learning algorithm known as "The Cannon"; and almost twice as many data cubes from the Mapping Nearby Galaxies at APO (MaNGA) survey as were in the previous release (N = 2812 in total). This paper describes the location and format of the publicly available data from SDSS-IV surveys. We provide references to the important technical papers describing how these data have been taken (both targeting and observation details) and processed for scientific use. The SDSS website (www.sdss.org) has been updated for this release, and provides links to data downloads, as well as tutorials and examples of data use. SDSS-IV is planning to continue to collect astronomical data until 2020, and will be followed by SDSS-V.Comment: SDSS-IV collaboration alphabetical author data release paper. DR14 happened on 31st July 2017. 19 pages, 5 figures. Accepted by ApJS on 28th Nov 2017 (this is the "post-print" and "post-proofs" version; minor corrections only from v1, and most of errors found in proofs corrected

Geogymkhana Alicante: ingenuity games and outdoor skill for learning Geology

La Geoyincana Alicante es una actividad que se realiza anualmente desde el año 2012 en la que han participado casi 10.000 estudiantes de 4º de la ESO y 1º de Bachillerato. Se desarrolla en un itinerario de algo más de 2 km en el que se alternan paradas con explicaciones directas y pruebas de destreza e ingenio al aire libre. En este trabajo se analizan las siete actividades en las que el aprendizaje se basa en juegos: la carrera del Tiempo Geológico, superposición estratigráfica humana, pictionary geológico, en busca de fósiles, geoselfi geomorfológico, geomimic e historia geológica: el enigma final. La actividad alcanza cada año su objetivo principal que es acercar la Geología a estudiantes y profesorado de una forma atractiva, utilizando las actividades de campo como recurso principal. La evaluación realizada al alumnado y profesorado muestra la valoración positiva de las pruebas basadas en juegos y su idoneidad para comprender mejor los conceptos de geología. A pesar de su carácter extracurricular, la actividad favorece la consecución de objetivos del currículo oficial, ya que favorece la participación activa, el trabajo en equipo, el conocimiento sobre la geología local, la motivación por la ciencia y, en general, el interés por el estudio de la Geología.The Geogymkhana-Alicante is a game-based learning activity carried out annually since 2012. During these years around 10,000 students of secondary school (fourth year of the Compulsory Secondary Education and the first year of Bachillerato) have attended Geogymkhana-Alicante. It consists of a 2 km-long walking trip that combines direct explanations and outdoor skill and ingenuity games. In this paper, we analyse seven of the game-based learning activities of Geogymkhana-Alicante: the geological time race, the human stratigraphic superposition, geological Pictionary, find fossils, the geomorphological geoselfie, geomimic, and geological history: Final Enigma. Each year, these games achieved their main goal: to bring geology to students and teachers in an attractive way using field activities as main resource. We performed a quantitative survey to students and teachers. This survey showed a positive approval of the game-based learning field activities, and their suitability to better understand geological concepts. Despite its extracurricular nature, the activity helps to achieve several objectives of the official curriculum, as it favours the understanding of geological concepts, the knowledge of local geology, teamwork, active participation, and motivation for Geology and Science in a broad way

Isla de Nueva Tabarca

Geolodía surge en el año 2005 de una iniciativa de José Luis Simón, de la Universidad de Zaragoza, y de Luis Alcalá, de la Fundación Dinópolis. El “Geolodía” es convocado desde el año 2010 por la Sociedad Geológica de España, la Asociación Española Para la Enseñanza de las Ciencias de la Tierra y el Instituto Geológico y Minero de España. Esta actividad pretende acercar a la sociedad tanto la Geología como la profesión de geólogo a partir de itinerarios didácticos guiados por expertos, en lugares interesantes por su entorno geológico. Además de una divulgación rigurosa, pretende sensibilizar a la población sobre la importancia y necesidad de proteger nuestro patrimonio geológico. Este año celebramos la décima edición de Geolodía en la provincia de Alicante. La participación de 3000 personas en la pasada edición de 2016 en Agosto, nos ha forzado a realizar inscripción gratuita, y limitar la participación. También hemos suprimido la ruta familiar y los talleres. Pero estamos diseñando una actividad específica dirigida a este tipo de público que esperamos ofertar en estos próximos años. En esta edición hemos aprovechado una de las maravillas naturales de la provincia de Alicante, la isla de Nueva Tabarca, para ofrecer una ruta de 5 kilómetros que discurre por su perímetro.Instituto Geológico y Minero de España, EspañaPeer reviewe

The 13th Data Release of the Sloan Digital Sky Survey: First Spectroscopic Data from the SDSS-IV Survey Mapping Nearby Galaxies at Apache Point Observatory

The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) began observations in July 2014. It pursues three core programs: APOGEE-2,MaNGA, and eBOSS. In addition, eBOSS contains two major subprograms: TDSS and SPIDERS. This paper describes the first data release from SDSS-IV, Data Release 13 (DR13), which contains new data, reanalysis of existing data sets and, like all SDSS data releases, is inclusive of previously released data. DR13 makes publicly available 1390 spatially resolved integral field unit observations of nearby galaxies from MaNGA,the first data released from this survey. It includes new observations from eBOSS, completing SEQUELS. In addition to targeting galaxies and quasars, SEQUELS also targeted variability-selected objects from TDSS and X-ray selected objects from SPIDERS. DR13 includes new reductions ofthe SDSS-III BOSS data, improving the spectrophotometric calibration and redshift classification. DR13 releases new reductions of the APOGEE-1data from SDSS-III, with abundances of elements not previously included and improved stellar parameters for dwarf stars and cooler stars. For the SDSS imaging data, DR13 provides new, more robust and precise photometric calibrations. Several value-added catalogs are being released in tandem with DR13, in particular target catalogs relevant for eBOSS, TDSS, and SPIDERS, and an updated red-clump catalog for APOGEE.This paper describes the location and format of the data now publicly available, as well as providing references to the important technical papers that describe the targeting, observing, and data reduction. The SDSS website, http://www.sdss.org, provides links to the data, tutorials and examples of data access, and extensive documentation of the reduction and analysis procedures. DR13 is the first of a scheduled set that will contain new data and analyses from the planned ~6-year operations of SDSS-IV.PostprintPeer reviewe

Sloan Digital Sky Survey IV: mapping the Milky Way, nearby galaxies, and the distant universe

We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median ). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July

Sloan Digital Sky Survey IV: Mapping the Milky Way, Nearby Galaxies, and the Distant Universe

We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median $z\sim 0.03$). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between $z\sim 0.6$ and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July

Sloan Digital Sky Survey IV : mapping the Milky Way, nearby galaxies, and the distant universe

We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median z ~ 0.03). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between z ~ 0.6 and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July