Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration

Aim: To delineate the neurogenetic profiles of brain degeneration patterns in myotonic dystrophy type I (DM1). Methods: In two cohorts of DM1 patients, brain maps of volume loss (VL) and neuropsychological deficits (NDs) were intersected to large-scale transcriptome maps provided by the Allen Human Brain Atlas (AHBA). For validation, neuropathological and RNA analyses were performed in a small series of DM1 brain samples. Results: Twofold: (1) From a list of preselected hypothesis-driven genes, confirmatory analyses found that three genes play a major role in brain degeneration: dystrophin (DMD), alpha-synuclein (SNCA) and the microtubule-associated protein tau (MAPT). Neuropathological analyses confirmed a highly heterogeneous Tau-pathology in DM1, different to the one in Alzheimer's disease. (2) Exploratory analyses revealed gene clusters enriched for key biological processes in the central nervous system, such as synaptic vesicle recycling, localization, endocytosis and exocytosis, and the serotonin and dopamine neurotransmitter pathways. RNA analyses confirmed synaptic vesicle dysfunction. Conclusions: The combination of large-scale transcriptome interactions with brain imaging and cognitive function sheds light on the neurobiological mechanisms of brain degeneration in DM1 that might help define future therapeutic strategies and research into this condition

The value of the continuous genotyping of multi-drug resistant tuberculosis over 20 years in Spain

Molecular epidemiology of circulating clinical isolates is crucial to improve prevention strategies. The Spanish Working Group on multidrug resistant tuberculosis (MDR-TB) is a network that monitors the MDR-TB isolates in Spain since 1998. The aim of this study was to present the study of the MDR-TB and extensively drug-resistant tuberculosis (XDR-TB) patterns in Spain using the different recommended genotyping methods over time by a national coordinated system. Based on the proposed genotyping methods in the European Union until 2018, the preservation of one method, MIRU-VNTR, applied to selected clustered strains permitted to maintain our study open for 20 years. The distribution of demographic, clinical and epidemiological characteristics of clustered and non-clustered cases of MDR/XDR tuberculosis with proportion differences as assessed by Pearson’s chi-squared or Fisher’s exact test was compared. The differences in the quantitative variables using the Student's-t test and the Mann–Whitney U test were evaluated. The results obtained showed a total of 48.4% of the cases grouped in 77 clusters. Younger age groups, having a known TB case contact (10.2% vs 4.7%) and XDR-TB (16.5% vs 1.8%) were significantly associated with clustering. The largest cluster corresponded to a Mycobacterium bovis strain mainly spread during the nineties. A total of 68.4% of the clusters detected were distributed among the different Spanish regions and six clusters involving 104 cases were grouped in 17 and 18 years. Comparison of the genotypes obtained with those European genotypes included in The European Surveillance System (TESSy) showed that 87 cases had become part of 20 European clusters. The continuity of MDR strain genotyping in time has offered a widespread picture of the situation that allows better management of this public health problem. It also shows the advantage of maintaining one genotyping method over time, which allowed the comparison between ancient, present and future samples

The Southern Photometric Local Universe Survey (S-PLUS): improved SEDs, morphologies, and redshifts with 12 optical filters

The Southern Photometric Local Universe Survey (S-PLUS) is imaging similar to 9300 deg(2) of the celestial sphere in 12 optical bands using a dedicated 0.8mrobotic telescope, the T80-South, at the Cerro Tololo Inter-american Observatory, Chile. The telescope is equipped with a 9.2k x 9.2k e2v detector with 10 mu m pixels, resulting in a field of view of 2 deg(2) with a plate scale of 0.55 arcsec pixel-1. The survey consists of four main subfields, which include two non-contiguous fields at high Galactic latitudes (vertical bar b vertical bar > 30 degrees, 8000 deg(2)) and two areas of the Galactic Disc and Bulge (for an additional 1300 deg(2)). S-PLUS uses the Javalambre 12-band magnitude system, which includes the 5 ugriz broad-band filters and 7 narrow-band filters centred on prominent stellar spectral features: the Balmer jump/[OII], Ca H + K, Hd, G band, Mg b triplet, H alpha, and the Ca triplet. S-PLUS delivers accurate photometric redshifts (dz /(1 + z) = 0.02 or better) for galaxies with r < 19.7 AB mag and z < 0.4, thus producing a 3D map of the local Universe over a volume of more than 1 (Gpc/h)(3). The final S-PLUS catalogue will also enable the study of star formation and stellar populations in and around the Milky Way and nearby galaxies, as well as searches for quasars, variable sources, and low-metallicity stars. In this paper we introduce the main characteristics of the survey, illustrated with science verification data highlighting the unique capabilities of S-PLUS. We also present the first public data release of similar to 336 deg(2) of the Stripe 82 area, in 12 bands, to a limiting magnitude of r = 21, available at datalab.noao.edu/splus.© 2019 The Author(s).Published by Oxford University Press on behalf of the Royal Astronomical SocietyThe S-PLUS project, including the T80S robotic telescope and the S-PLUS scientific survey, was founded as a partnership between the Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP), the Observatorio Nacional (ON), the Federal University of Sergipe (UFS), and the Federal University of Santa Catarina (UFSC), with important financial and practical contributions from other collaborating institutes in Brazil, Chile (Universidad de La Serena), and Spain (Centro de Estudios de Fisica del Cosmos de Aragon, CEFCA). The members of the collaboration are grateful for the support received from the Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq; grants 312333/2014-5, 306968/2014-2, 142436/2014-3, 459553/2014-3, 400738/2014-7, 302037/2015-2, 312307/2015-2, 300336/2016-0, 304184/2016-0, 304971/2016-2, 401669/2016-5, 308968/2016-6, 309456/2016-9, 421687/2016-9, 150237/2017-0, 311331/2017-3, 304819/2017-4, and 200289/2017-9), FAPESP (grants 2009/54202-8, 2011/51680-6, 2014/07684-5, 2014/11806-9, 2014/13723-3, 2014/18632-6, 2016/17119-9, 2016/12331-0, 2016/21532-9, 2016/21664-2, 2016/23567-4, 2017/01461-2, 2017/23766-0, 2018/02444-7, and 2018/21661-9), the Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES; grants 88881.030413/2013-01 and 88881.156185/2017-01), the Fundacao de Amparo a Pesquisa do Estado do Rio de Janeiro (FAPERJ; grants 202.876/2015, 202.835/2016, and 203.186/2016), the Financiadora de Estudos e Projetos (FINEP; grants 1217/13-01.13.0279.00 and 0859/10-01.10.0663.00), the Direccion de Investigacion y Desarrollo de la Universidad de La Serena (DIDULS/ULS; projects PR16143 and PTE16146 and the Programa de Investigadores Asociados), and the Direccion de Postgrado y Postitulo. TCB, VMP, and DDW acknowledge the support from the Physics Frontier Center for the Evolution of the Elements (JINA-CEE) through the US National Science Foundation (grant PHY 14-30152). JLNC is grateful for financial support received from the Southern Office of Aerospace Research and development (SOARD; grants FA9550-15-1-0167 and FA9550-18-1-0018) of the Air Force Office of the Scientific Research International Office of the United States (AFOSR/IO). YJT and RAD acknowledge support from the Spanish National Research Council (CSIC) I-COOP + 2016 program (grant COOPB20263), and the Spanish Ministry of Economy, Industry, and Competitiveness (MINECO; grants AYA2013-48623-C2-1-P and AYA2016-81065-C2-1-P). RAOM acknowledges support from the Direccion General de Asuntos del Personal Academico of the Universidad Nacional Autonoma de Mexico (DGAPA-UNAM) through a post-doctoral fellowship from the Programa de Becas Posdoctorales en la UNAM. This work has made use of data from the Sloan Digital Sky Survey. Funding for the SDSS and SDSS-II has been provided by the Alfred P. Sloan Foundation, the Participating Institutions, the National Science Foundation, the U.S. Department of Enenergy, the National Aeronautics and Space Administration, the Japanese Monbukagakusho, the Max Planck Society, and the Higher Education Funding Council for England. The SDSS Web Site is http://www.sdss.org/.The SDSS is managed by the Astrophysical Research Consortium for the Participating Institutions. The Participating Institutions are the American Museum of Natural History, Astrophysical Institute Potsdam, University of Basel, University of Cambridge, Case Western Reserve University, University of Chicago, Drexel University, Fermilab, the Institute for Advanced Study, the Japan Participation Group, Johns Hopkins University, the Joint Institute for Nuclear Astrophysics, the Kavli Institute for Particle Astrophysics and Cosmology, the Korean Scientist Group, the Chinese Academy of Sciences (LAMOST), Los Alamos National Laboratory, the Max-Planck-Institute for Astronomy (MPIA), the Max-Planck-Institute for Astrophysics (MPA), the New Mexico State University, Ohio State University, University of Pittsburgh, University of Portsmouth, Princeton University, the United States Naval Observatory, and the University of Washington. This publication makes use of data products from the Widefield Infrared Survey Explorer, which is a joint project of the University of California, Los Angeles, and the Jet Propulsion Laboratory/California Institute of Technology, funded by the National Aeronautics and Space Administration. We are grateful for the contributions of CTIO staff in helping in the construction, commissioning, and maintenance of the telescope and camera and we are particularly thankful to the CTIO director, Steve Heathcote, for his support at every phase, without which this project would not have been completed. We thank Cesar Iniguez for making the 2D measurements of the filter transmissions at CEFCA. We warmly thank David Cristobal-Hornillos and his group for helping us to install and run the reduction package JYPE version 0.9.9 in the S-PLUS computer system in Chile. We warmly thank Mariano Moles, Javier Cenarro, Tamara Civera, Sergio Chueca, Javier Hernandez Fuertes, Antonio Marin Franch, Jesus Varella, and Hector Vazquez Ramio -the success of the S-PLUS project relies on the dedication of these and other CEFCA staff members in building OAJ and running J-PLUS and J-PAS. We deeply thank Rene Laporte and INPE, as well as Keith Taylor, for their contributions to the T80S camera

The Southern Photometric Local Universe Survey (S-PLUS): improved SEDs, morphologies, and redshifts with 12 optical filters

International audienceThe Southern Photometric Local Universe Survey (S-PLUS) is imaging ∼9300 deg2 of the celestial sphere in 12 optical bands using a dedicated 0.8 m robotic telescope, the T80-South, at the Cerro Tololo Inter-american Observatory, Chile. The telescope is equipped with a 9.2k × 9.2k e2v detector with 10 {μ m} pixels, resulting in a field of view of 2 deg2 with a plate scale of 0.55 arcsec pixel-1. The survey consists of four main subfields, which include two non-contiguous fields at high Galactic latitudes (|b| > 30°, 8000 deg2) and two areas of the Galactic Disc and Bulge (for an additional 1300 deg2). S-PLUS uses the Javalambre 12-band magnitude system, which includes the 5 ugriz broad-band filters and 7 narrow-band filters centred on prominent stellar spectral features: the Balmer jump/[OII], Ca H + K, H δ, G band, Mg b triplet, H α, and the Ca triplet. S-PLUS delivers accurate photometric redshifts (δz/(1 + z) = 0.02 or better) for galaxies with r 2 of the Stripe 82 area, in 12 bands, to a limiting magnitude of r = 21, available at datalab.noao.edu/splus