The starburst-active galactic nucleus connection in the merger galaxy Mrk 938: An infrared and X-ray view

Mrk 938 is a luminous infrared (IR) galaxy in the local Universe believed to be the remnant of a galaxy merger. It shows a Seyfert 2 nucleus and intense star formation according to optical spectroscopic observations. We have studied this galaxy using new Herschel far-IR imaging data in addition to archival X-ray, UV, optical, near-IR and mid-IR data. Mid- and far-IR data are crucial to characterize the starburst contribution, allowing us to shed new light on its nature and to study the coexistence of active galactic nuclei (AGN) and starburst activity in the local Universe. The decomposition of the mid-IR Spitzer spectrum shows that the AGN bolometric contribution to the mid-IR and total IR luminosity is small [Lbol(AGN)/LIR ? 0.02], which agrees with previous estimations. We have characterized the physical nature of its strong IR emission and constrained it to a relatively compact emitting region of ?2 kpc. It is in this obscured region where most of the current star formation activity is taking place as expected for luminous IR galaxies. We have used Herschel imaging data for the first time to constrain the cold dust emission with unprecedented accuracy. We have fitted the integrated far-IR spectral energy distribution and derived the properties of the dust, obtaining a dust mass of 3 × 107 M . The far-IR is dominated by emission at 35 K, consistent with dust heated by the ongoing star formation activityThanks to F. Schweizer for kindly providing the optical image of Mrk 938, to J. Gallimore for providing the MIPS SED data, and to H. Krimm and W. Baumgartner for the analysis of the BAT ob- servations. PE, AA-H and MP-S acknowledge support from the Spanish Plan Nacional de Astronom ́ıa y Astrof ́ısica under grant AYA2009-05705-E. AA-H and MP-S acknowledge support under grant AYA2010-21161-C02-01. MP-S acknowledges support from the CSIC under grant JAE-Predoc-2007. AMP-G acknowledges support by the Spanish Plan Nacional de Astronom ́ıa y Astrof ́ısica under the grant AYA2008-06311-CO2-01. CRA acknowledges fi- nancial support from STFC (ST/G001758/1) and from the Span- ish Ministry of Science and Innovation (MICINN) through project Consolider-Ingenio 2010 Programme grant CSD2006-00070: First Science with the GTC. MP acknowledges Junta de Andaluc ́ıa and Spanish Ministry of Science and Innovation through projects PO8- TIC-03531 and AYA2010-15169. PACS has been developed by a consortium of institutes led by MPE (Germany) and including UVIE (Austria); KU Leuven, CSL, IMEC (Belgium); CEA, LAM (France); MPIA (Germany); INAF- IFSI/OAA/OAP/OAT, LENS, SISSA (Italy) and IAC (Spain). This development has been supported by the funding agencies BMVIT (Austria), ESA-PRODEX (Belgium), CEA/CNES (France), DLR (Germany), ASI/INAF (Italy) and CICYT/MCYT (Spain). SPIRE has been developed by a consortium of institutes led by Cardiff University (UK) and including University of Lethbridge (Canada); NAOC (China); CEA, LAM (France); IFSI, University of Padua (Italy); IAC (Spain); Stockholm Observatory (Sweden); Imperial College London, RAL, UCL-MSSL, UKATC, University of Sus- sex (UK) and Caltech, JPL, NHSC, University of Colorado (USA). This development has been supported by national funding agencies: CSA (Canada); NAOC (China); CEA, CNES, CNRS (France); ASI (Italy); MCINN (Spain); SNSB (Sweden); STFC (UK) and NASA (USA). This work is based on observations made with the Spitzer Space Telescope, which is operated by the Jet Propulsion Labo- ratory, California Institute of Technology, under NASA contract 1407

The different clinical facets of SYN1-related neurodevelopmental disorders

Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on the clinical and molecular spectrum of the SYN1-related neurodevelopmental disorders by describing 31 novel individuals harboring 22 different SYN1 variants. We analyzed newly identified as well as previously reported individuals in order to define the frequency of key features associated with these disorders. Specifically, behavioral disturbances such as autism spectrum disorder or attention deficit hyperactivity disorder are observed in 91% of the individuals, epilepsy in 82%, intellectual disability in 77%, and developmental delay in 70%. Seizure types mainly include tonic-clonic or focal seizures with impaired awareness. The presence of reflex seizures is one of the most representative clinical manifestations related to SYN1. In more than half of the cases, seizures are triggered by contact with water, but other triggers are also frequently reported, including rubbing with a towel, fever, toothbrushing, fingernail clipping, falling asleep, and watching others showering or bathing. We additionally describe hyperpnea, emotion, lighting, using a stroboscope, digestive troubles, and defecation as possible triggers in individuals with SYN1 variants. The molecular spectrum of SYN1 variants is broad and encompasses truncating variants (frameshift, nonsense, splicing and start-loss variants) as well as non-truncating variants (missense substitutions and in-frame duplications). Genotype-phenotype correlation revealed that epileptic phenotypes are enriched in individuals with truncating variants. Furthermore, we could show for the first time that individuals with early seizures onset tend to present with severe-to-profound intellectual disability, hence highlighting the existence of an association between early seizure onset and more severe impairment of cognitive functions. Altogether, we present a detailed clinical description of the largest series of individuals with SYN1 variants reported so far and provide the first genotype-phenotype correlations for this gene. A timely molecular diagnosis and genetic counseling are cardinal for appropriate patient management and treatment

Phylogeny of the Neotropical sages (Salvia subg. Calosphace; Lamiaceae) and insights into pollinator and area shifts

Salvia subg. Calosphace (Lamiaceae, Lamiales) is a highly diverse clade endemic to the New World. The phylogenetic relationships of Calosphace have been previously investigated using DNA sequences of nuclear ITS region and plastid psbA–trnH intergenic spacer, but the resulting trees lack resolution and support for many clades. The present paper reassesses the phylogenetic relationships of subgenus Calosphace, including a broader taxon sampling, with a special focus on representing previously unsampled sections, and using an additional plastid marker (trnL–trnF region). Our results show increased resolution and overall patterns of support, recovering ten main clades. Within core Calosphace, the most inclusive of these main clades, 17 new subclades were identified. Of the 42 sections for which more than one species was analysed, only 12 are monophyletic. Our biogeographical analysis identified at least twelve migrations to South America from Mexican and Central American lineages, in agreement with previous suggestions of multiple origins of South American Calosphace diversity. This analysis also confirmed a colonization of the Antilles by Andean lineages. The reconstruction of ancestral states of pollination syndromes showed multiple shifts to ornithophily from melittophily and one reversal to the latter.Fil: Fragoso-Martínez, Itzi. Universidad Nacional Autónoma de México; MéxicoFil: Martínez-Gordillo, Martha. Universidad Nacional Autónoma de México; MéxicoFil: Salazar, Gerardo A.. Universidad Nacional Autónoma de México; MéxicoFil: Sazatornil, Federico David. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto Multidisciplinario de Biología Vegetal. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas Físicas y Naturales. Instituto Multidisciplinario de Biología Vegetal; ArgentinaFil: Jenks, Aaron A.. Berkeley University; Estados UnidosFil: García Peña, María del Rosario. Universidad Nacional Autónoma de México; MéxicoFil: Barrera-Aveleida, Giovanna. Universidad Nacional Autónoma de México; MéxicoFil: Benitez Vieyra, Santiago Miguel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto Multidisciplinario de Biología Vegetal. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas Físicas y Naturales. Instituto Multidisciplinario de Biología Vegetal; ArgentinaFil: Magallón, Susana. Universidad Nacional Autónoma de México; MéxicoFil: Cornejo-Tenorio, Guadalupe. Universidad Nacional Autónoma de México; MéxicoFil: Granados Mendoza, Carolina. Universidad Nacional Autónoma de México; Méxic

Cohort profile. the ESC-EORP chronic ischemic cardiovascular disease long-term (CICD LT) registry

The European Society of cardiology (ESC) EURObservational Research Programme (EORP) Chronic Ischemic Cardiovascular Disease registry Long Term (CICD) aims to study the clinical profile, treatment modalities and outcomes of patients diagnosed with CICD in a contemporary environment in order to assess whether these patients at high cardiovascular risk are treated according to ESC guidelines on prevention or on stable coronary disease and to determine mid and long term outcomes and their determinants in this population