Current HHT genetic overview in Spain and its phenotypic correlation: Data from RiHHTa registry

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases submitted to molecular diagnosis. Methods: We used data from the RiHHTa (Computerized Registry of Hereditary Hemorrhagic Telangiectasia) registry to describe genetic variants and to assess their genotype-phenotype correlation among HHT patients in Spain. Results: By May 2019, 215 patients were included in the RiHHTa registry with a mean age of 52.5 ± 16.5 years and 136 (63.3%) were women. Definitive HHT diagnosis defined by the Curaca¸o criteria were met by 172 (80%) patients. Among 113 patients with genetic test, 77 (68.1%) showed a genetic variant in ACVRL1 and 36 (31.8%) in ENG gene. The identified genetic variants in ACVRL1 and ENG genes and their clinical significance are provided. ACVRL1 mutations were more frequently nonsense (50%) while ENG mutations were more frequently, frameshift (39.1%). ENG patients were significantly younger at diagnosis (36.9 vs 45.7 years) and had pulmonary arteriovenous malformations (AVMs) (71.4% vs 24.4%) and cerebral AVMs (17.6% vs 2%) more often than patients with ACVRL1 variants. Patients with ACVRL1 variants had a higher cardiac index (2.62 vs 3.46), higher levels of hepatic functional blood tests, and anemia (28.5% vs 56.7%) more often than ENG patients. Conclusions: ACVRL1 variants are more frequent than ENG in Spain. ACVRL1 patients developed symptomatic liver disease and anemia more often than ENG patients. Compared to ACVRL1, those with ENG variants are younger at diagnosis and show pulmonary and cerebral AVMs more frequently

Estimation of wood volume and height of olive tree plantations using airborne discrete-return LiDAR data

The aim of this study is to analyze methodologies based on airborne LiDAR (light detection and ranging) technology of low pulse density points (0.5m(-2)) for height and volume quantification of olive trees in Viver (Spain). A total of 29 circular plots, each with a radius of 20m, were sampled and their volumes and heights were obtained by dendrometric methods. For these estimations, several statistics derived from LiDAR data were calculated in each plot. Regression models were used to predict volume and height. The results showed good performance for estimating volume (R-2=0.70) and total height (R-2=0.67).The authors appreciate the financial support provided by the Spanish Ministerio de Ciencia e Innovacion (Ministry for Science & Innovation) within the framework of the project AGL2010-15334 and by the Vice-Rectorate for Research of the Universitat Politecnica de Valencia [Grant PAID-06-12-3297; SP20120534].Estornell Cremades, J.; Velázquez Martí, B.; López Cortés, I.; Salazar Hernández, DM.; Fernández-Sarría, A. (2014). Estimation of wood volume and height of olive tree plantations using airborne discrete-return LiDAR data. GIScience and Remote Sensing. 51(1):17-29. https://doi.org/10.1080/15481603.2014.883209S1729511Estornell, J., Ruiz, L. A., Velázquez-Martí, B., & Fernández-Sarría, A. (2011). Estimation of shrub biomass by airborne LiDAR data in small forest stands. Forest Ecology and Management, 262(9), 1697-1703. doi:10.1016/j.foreco.2011.07.026García, M., Riaño, D., Chuvieco, E., & Danson, F. M. (2010). Estimating biomass carbon stocks for a Mediterranean forest in central Spain using LiDAR height and intensity data. Remote Sensing of Environment, 114(4), 816-830. doi:10.1016/j.rse.2009.11.021Hyyppa, J., Kelle, O., Lehikoinen, M., & Inkinen, M. (2001). A segmentation-based method to retrieve stem volume estimates from 3-D tree height models produced by laser scanners. IEEE Transactions on Geoscience and Remote Sensing, 39(5), 969-975. doi:10.1109/36.921414Kim, Y., Yang, Z., Cohen, W. B., Pflugmacher, D., Lauver, C. L., & Vankat, J. L. (2009). Distinguishing between live and dead standing tree biomass on the North Rim of Grand Canyon National Park, USA using small-footprint lidar data. Remote Sensing of Environment, 113(11), 2499-2510. doi:10.1016/j.rse.2009.07.010Moorthy, I., Miller, J. R., Berni, J. A. J., Zarco-Tejada, P., Hu, B., & Chen, J. (2011). Field characterization of olive (Olea europaea L.) tree crown architecture using terrestrial laser scanning data. Agricultural and Forest Meteorology, 151(2), 204-214. doi:10.1016/j.agrformet.2010.10.005Næsset, E. (2004). Accuracy of forest inventory using airborne laser scanning: evaluating the first nordic full-scale operational project. Scandinavian Journal of Forest Research, 19(6), 554-557. doi:10.1080/02827580410019544Popescu, S. C. (2007). Estimating biomass of individual pine trees using airborne lidar. Biomass and Bioenergy, 31(9), 646-655. doi:10.1016/j.biombioe.2007.06.022Popescu, S. C., Wynne, R. H., & Nelson, R. F. (2002). Estimating plot-level tree heights with lidar: local filtering with a canopy-height based variable window size. Computers and Electronics in Agriculture, 37(1-3), 71-95. doi:10.1016/s0168-1699(02)00121-7Velázquez-Martí, B., Estornell, J., López-Cortés, I., & Martí-Gavilá, J. (2012). Calculation of biomass volume of citrus trees from an adapted dendrometry. Biosystems Engineering, 112(4), 285-292. doi:10.1016/j.biosystemseng.2012.04.011Velázquez-Martí, B., Fernández-González, E., Estornell, J., & Ruiz, L. A. (2010). Dendrometric and dasometric analysis of the bushy biomass in Mediterranean forests. Forest Ecology and Management, 259(5), 875-882. doi:10.1016/j.foreco.2009.11.027Velázquez-Martí, B., Fernández-González, E., López-Cortés, I., & Salazar-Hernández, D. M. (2011). Quantification of the residual biomass obtained from pruning of trees in Mediterranean olive groves. Biomass and Bioenergy, 35(7), 3208-3217. doi:10.1016/j.biombioe.2011.04.042Yu, X., Hyyppä, J., Kaartinen, H., & Maltamo, M. (2004). Automatic detection of harvested trees and determination of forest growth using airborne laser scanning. Remote Sensing of Environment, 90(4), 451-462. doi:10.1016/j.rse.2004.02.00

Observation of the Crab Nebula with the HAWC Gamma-Ray Observatory

The Crab Nebula is the brightest TeV gamma-ray source in the sky and has been used for the past 25 years as a reference source in TeV astronomy, for calibration and verification of new TeV instruments. The High Altitude Water Cherenkov Observatory (HAWC), completed in early 2015, has been used to observe the Crab Nebula at high significance across nearly the full spectrum of energies to which HAWC is sensitive. HAWC is unique for its wide field-of-view, nearly 2 sr at any instant, and its high-energy reach, up to 100 TeV. HAWC's sensitivity improves with the gamma-ray energy. Above $\sim$1 TeV the sensitivity is driven by the best background rejection and angular resolution ever achieved for a wide-field ground array. We present a time-integrated analysis of the Crab using 507 live days of HAWC data from 2014 November to 2016 June. The spectrum of the Crab is fit to a function of the form $\phi(E) = \phi_0 (E/E_{0})^{-\alpha -\beta\cdot{\rm{ln}}(E/E_{0})}$. The data is well-fit with values of $\alpha=2.63\pm0.03$, $\beta=0.15\pm0.03$, and log$_{10}(\phi_0~{\rm{cm}^2}~{\rm{s}}~{\rm{TeV}})=-12.60\pm0.02$ when $E_{0}$ is fixed at 7 TeV and the fit applies between 1 and 37 TeV. Study of the systematic errors in this HAWC measurement is discussed and estimated to be $\pm$50\% in the photon flux between 1 and 37 TeV. Confirmation of the Crab flux serves to establish the HAWC instrument's sensitivity for surveys of the sky. The HAWC survey will exceed sensitivity of current-generation observatories and open a new view of 2/3 of the sky above 10 TeV.Comment: Submitted 2017/01/06 to the Astrophysical Journa

Extended gamma-ray sources around pulsars constrain the origin of the positron flux at Earth

The unexpectedly high flux of cosmic ray positrons detected at Earth may originate from nearby astrophysical sources, dark matter, or unknown processes of cosmic-ray secondary production. We report the detection, using the HighAltitude Water Cherenkov Observatory (HAWC), of extended tera-electron volt gamma-ray emission coincident with the locations of two nearby middle-aged pulsars (Geminga and PSR B0656+14). The HAWC observations demonstrate that these pulsars are indeed local sources of accelerated leptons, but the measured tera-electron volt emission profile constrains the diffusion of particles away from these sources to be much slower than previously assumed. We demonstrate that the leptons emitted by these objects are therefore unlikely to be the origin of the excess positrons, which may have a more exotic origin.Comment: 16 pages (including supplementary material), 5 figure

The Pierre Auger Observatory III: Other Astrophysical Observations

Astrophysical observations of ultra-high-energy cosmic rays with the Pierre Auger ObservatoryComment: Contributions to the 32nd International Cosmic Ray Conference, Beijing, China, August 201

A search for point sources of EeV photons

Measurements of air showers made using the hybrid technique developed with the fluorescence and surface detectors of the Pierre Auger Observatory allow a sensitive search for point sources of EeV photons anywhere in the exposed sky. A multivariate analysis reduces the background of hadronic cosmic rays. The search is sensitive to a declination band from -85{\deg} to +20{\deg}, in an energy range from 10^17.3 eV to 10^18.5 eV. No photon point source has been detected. An upper limit on the photon flux has been derived for every direction. The mean value of the energy flux limit that results from this, assuming a photon spectral index of -2, is 0.06 eV cm^-2 s^-1, and no celestial direction exceeds 0.25 eV cm^-2 s^-1. These upper limits constrain scenarios in which EeV cosmic ray protons are emitted by non-transient sources in the Galaxy.Comment: 28 pages, 10 figures, accepted for publication in The Astrophysical Journa

Azimuthal asymmetry in the risetime of the surface detector signals of the Pierre Auger Observatory

The azimuthal asymmetry in the risetime of signals in Auger surface detector stations is a source of information on shower development. The azimuthal asymmetry is due to a combination of the longitudinal evolution of the shower and geometrical effects related to the angles of incidence of the particles into the detectors. The magnitude of the effect depends upon the zenith angle and state of development of the shower and thus provides a novel observable, $(\sec \theta)_\mathrm{max}$, sensitive to the mass composition of cosmic rays above $3 \times 10^{18}$ eV. By comparing measurements with predictions from shower simulations, we find for both of our adopted models of hadronic physics (QGSJETII-04 and EPOS-LHC) an indication that the mean cosmic-ray mass increases slowly with energy, as has been inferred from other studies. However, the mass estimates are dependent on the shower model and on the range of distance from the shower core selected. Thus the method has uncovered further deficiencies in our understanding of shower modelling that must be resolved before the mass composition can be inferred from $(\sec \theta)_\mathrm{max}$.Comment: Replaced with published version. Added journal reference and DO