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First-degree relatives of patients with psychotic disorder have higher levels of polygenic risk (PRS) for schizophrenia and higher levels of intermediate phenotypes.
We conducted, using two different samples for discovery (n = 336 controls and 649 siblings of patients with psychotic disorder) and replication (n = 1208 controls and 1106 siblings), an analysis of association between PRS on the one hand and psychopathological and cognitive intermediate phenotypes of schizophrenia on the other in a sample at average genetic risk (healthy controls) and a sample at higher than average risk (healthy siblings of patients). Two subthreshold psychosis phenotypes, as well as a standardised measure of cognitive ability, based on a short version of the WAIS-III short form, were used. In addition, a measure of jumping to conclusion bias (replication sample only) was tested for association with PRS.
In both discovery and replication sample, evidence for an association between PRS and subthreshold psychosis phenotypes was observed in the relatives of patients, whereas in the controls no association was observed. Jumping to conclusion bias was similarly only associated with PRS in the sibling group. Cognitive ability was weakly negatively and non-significantly associated with PRS in both the sibling and the control group.
The degree of endophenotypic expression of schizophrenia polygenic risk depends on having a sibling with psychotic disorder, suggestive of underlying gene–environment interaction. Cognitive biases may better index genetic risk of disorder than traditional measures of neurocognition, which instead may reflect the population distribution of cognitive ability impacting the prognosis of psychotic disorder.
Human fascioliasis is a worldwide, pathogenic food-borne trematodiasis. Impressive clinical pictures comprising puzzling polymorphisms, manifestation multifocality, disease evolution changes, sequelae and mortality, have been reported in patients presenting with neurological, meningeal, neuropsychic and ocular disorders caused at distance by flukes infecting the liver. Proteomic and mass spectrometry analyses of the Fasciola hepatica excretome/secretome identified numerous, several new, plasminogen-binding proteins enhancing plasmin generation. This may underlie blood-brain barrier leakage whether by many simultaneously migrating, small-sized juvenile flukes in the acute phase, or by breakage of encapsulating formations triggered by single worm tracks in the chronic phase. Blood-brain barrier leakages may subsequently occur due to a fibrinolytic system-dependent mechanism involving plasmin-dependent generation of the proinflammatory peptide bradykinin and activation of bradykinin B2 receptors, after different plasminogen-binding protein agglomeration waves. Interactions between diverse parasitic situations and non-imbalancing fibrinolysis system alterations are for the first time proposed that explain the complexity, heterogeneity and timely variations of neurological disorders. Additionally, inflammation and dilation of blood vessels may be due to contact system–dependent generation bradykinin. This baseline allows for search of indicators to detect neurological risk in fascioliasis patients and experimental work on antifibrinolytic treatments or B2 receptor antagonists for preventing blood-brain barrier leakage.
Diarrhoeagenic Escherichia coli (DEC) is a leading cause of infectious diarrhoea worldwide. In recent years, Escherichia albertii has also been implicated as a cause of human enteric diseases. This study describes the occurrence of E. coli pathotypes and serotypes associated with enteric illness and haemolytic uremic syndrome (HUS) isolated in Brazil from 2011 to 2016. Pathotypes isolated included enteropathogenic E. coli (EPEC), enteroaggregative E. coli (EAEC), enterotoxigenic E. coli (ETEC), enteroinvasive E. coli (EIEC) and Shiga toxin-producing E. coli (STEC). PCR of stool enrichments for DEC pathotypes was employed, and E. albertii was also sought. O:H serotyping was performed on all DEC isolates. A total of 683 DEC and 10 E. albertii strains were isolated from 5047 clinical samples. The frequencies of DEC pathotypes were 52.6% (359/683) for EPEC, 32.5% for EAEC, 6.3% for ETEC, 4.4% for EIEC and 4.2% for STEC. DEC strains occurred in patients from 3 months to 96 years old, but EPEC, EAEC and STEC were most prevalent among children. Both typical and atypical isolates of EPEC and EAEC were recovered and presented great serotype heterogeneity. HUS cases were only associated with STEC serotype O157:H7. Two E. albertii isolates belonged to serogroup O113 and one had the stx2f gene. The higher prevalence of atypical EPEC in relation to EAEC in community-acquired diarrhoea in Brazil suggests a shift in the trend of DEC pathotypes circulation as previously EAEC predominated. This is the first report of E. albertii isolation from active surveillance. These results highlight the need of continuing DEC and E. albertii surveillance, as a mean to detect changes in the pattern of pathotypes and serotypes circulation and provide useful information for intervention and control strategies.
In the current study, phage-exposed mimotopes as targets against tegumentary leishmaniasis (TL) were selected by means of bio-panning cycles employing sera of TL patients and healthy subjects, besides the immune stimulation of peripheral blood mononuclear cells (PBMCs) collected from untreated and treated TL patients and healthy subjects. The clones were evaluated regarding their specific interferon-γ (IFN-γ) and interleukin-4 (IL-4) production in the in vitro cultures, and selectivity and specificity values were calculated, and those presenting the best results were selected for the in vivo experiments. Two clones, namely A4 and A8, were identified and used in immunization protocols from BALB/c mice to protect against Leishmania amazonensis infection. Results showed a polarized Th1 response generated after vaccination, being based on significantly higher levels of IFN-γ, IL-2, IL-12, tumour necrosis factor-α (TNF-α) and granulocyte-macrophage colony-stimulating factor (GM-CSF); which were associated with lower production of specific IL-4, IL-10 and immunoglobulin G1 (IgG1) antibodies. Vaccinated mice presented significant reductions in the parasite load in the infected tissue and distinct organs, when compared with controls. In conclusion, we presented a strategy to identify new mimotopes able to induce Th1 response in PBMCs from TL patients and healthy subjects, and that were successfully used to protect against L. amazonensis infection.
We report results of radio continuum (1.3 and 3.6 cm) and H2O maser line observations, made with the Very Large Array (A configuration), toward the star-forming region AFGL 2591. We detected 85 maser spots toward this region, which are distributed in three main groups. Two of these groups spatially coincide with the radio continuum sources VLA 2 and VLA 3. The maser spots associated with VLA 3 are distributed along a shell-like structure of 0.01 and nearly perpendicular to the CO bipolar outflow. We propose that VLA 3 is the center of the observed molecular flow in this region. Finally, we confirm that AFGL 2591 region is a cluster of B type stars, each one with its own optically thin H II region.
Kawasaki disease is an acute systemic vasculitis. Cardiac complications are frequent and include endothelial dysfunction in patients with coronary anomalies. Thus far, endothelial dysfunction in patients with no coronary lesions is poorly understood. Our aim was to access the vascular function in adolescents and young adults long term after Kawasaki disease, but without coronary aneurysms or any other cardiac risk factors.
We carried out a single-centre prospective study in a Portuguese population. We evaluated two groups of subjects: (1) Kawasaki disease patients over 11 years of age, diagnosed >5 years ago, with no coronary lesions or any other risk factors for cardiovascular disease; (2) control group of individuals without cardiovascular risk factors. Patients and controls were clinically assessed. Endo-PAT and carotid intima-media thickness assessment were performed to determine vascular function.
In total, 43 Kawasaki disease patients were assessed and compared with 43 controls. Kawasaki disease patients presented a decreased reactive hyperaemia index compared with controls (1.59±0.45 versus 1.98±0.41; p<0.001). Augmentation index was similar in both groups (−4.5±7 versus −5±9%; p 0.6). The mean carotid intima-media thickness was not significantly increased in the Kawasaki disease group. There were no statistically significant changes with regard to laboratory data.
Children with Kawasaki disease may have long-term sequelae, even when there is no discernible coronary artery involvement in the acute stage of the disease. Further research is needed to assess whether known strategies to improve endothelial function would bring potential benefits to Kawasaki disease patients.
Management strategies for increasing ruminant legume consumption and mitigating methane emissions from tropical livestock production systems require further study. The aim of this work was to evaluate the herbage intake, animal performance and enteric methane emissions of cattle grazing dwarf elephant grass (DEG) (Pennisetum purpureum cv. BRS Kurumi) alone or DEG with peanut (Arachis pintoi cv. Amarillo). The experimental treatments were the following: DEG pastures receiving nitrogen fertilization (150 kg N/ha as ammonium nitrate) and DEG intercropped with peanut plus an adjacent area of peanut that was accessible to grazing animals for 5 h/day (from 0700 to 1200 h). The animals grazing legume pastures showed greater average daily gain and herbage intake, and shorter morning and total grazing times. Daily methane emissions were greater from the animals grazing legume pastures, whereas methane emissions per unit of herbage intake did not differ between treatments. Allowing animals access to an exclusive area of legumes in a tropical grass-pasture-based system can improve animal performance without increasing methane production per kg of dry matter intake.
The Gaia Science Alerts project (GSA) aims to augment a precision survey of the Milky Way with a controlled, precision survey of all classes of transient phenomena. While onboard BP/RP spectra from Gaia will ultimately allow us to classify many Gaia Alerts based on Gaia data alone, in the initial phases of the GSA project it is necessary to verify and classify discoveries with ground-based spectroscopic followup. In this article, we describe a subset of the ongoing Gaia Alerts followup programmes, and some of the initial science results from this work.
We present the results of an approximately 6 100 deg2 104–196 MHz radio sky survey performed with the Murchison Widefield Array during instrument commissioning between 2012 September and 2012 December: the MWACS. The data were taken as meridian drift scans with two different 32-antenna sub-arrays that were available during the commissioning period. The survey covers approximately 20.5 h < RA < 8.5 h, − 58° < Dec < −14°over three frequency bands centred on 119, 150 and 180 MHz, with image resolutions of 6–3 arcmin. The catalogue has 3 arcmin angular resolution and a typical noise level of 40 mJy beam− 1, with reduced sensitivity near the field boundaries and bright sources. We describe the data reduction strategy, based upon mosaicked snapshots, flux density calibration, and source-finding method. We present a catalogue of flux density and spectral index measurements for 14 110 sources, extracted from the mosaic, 1 247 of which are sub-components of complexes of sources.
The MIRAGE sample (Merging & isolated high-redshift AMR galaxies; Perret 2014, PhD dissertation; Perret et al. 2014, AA 562, 1) has been built in order to understand the contribution of the merger processes to the mass assembly in the MASSIV (Mass Assembly Survey with SINFONI in VVDS, Contini et al. 2012, AA 539, 91) sample. It consists of a sample of idealized simulations based on the RAMSES code; the initial conditions were designed to reproduce the physical properties of the most gas-rich young galaxies. The sample is composed of 20 simulations of mergers exploring the initial parameters of mass and orientation of the disks with a spatial resolution reaching 7 parsecs.
We resolve spatially the star formation history of 300 nearby galaxies from the CALIFA integral field survey to investigate: a) the radial structure and gradients of the present stellar populations properties as a function of the Hubble type; and b) the role that plays the galaxy stellar mass and stellar mass surface density in governing the star formation history and metallicity enrichment of spheroids and the disks of galaxies. We apply the fossil record method based on spectral synthesis techniques to recover spatially and temporally resolved maps of stellar population properties of spheroids and spirals with galaxy mass from 109 to 7×1011 M⊙. The individual radial profiles of the stellar mass surface density (μ⋆), stellar extinction (AV), luminosity weighted ages (〈logage〉L), and mass weighted metallicity (〈log Z/Z⊙〉M) are stacked in seven bins of galaxy morphology (E, S0, Sa, Sb, Sbc, Sc and Sd). All these properties show negative gradients as a sight of the inside-out growth of massive galaxies. However, the gradients depend on the Hubble type in different ways. For the same galaxy mass, E and S0 galaxies show the largest inner gradients in μ⋆; and Andromeda-like galaxies (Sb with log M⋆ (M⊙) ∼ 11) show the largest inner age and metallicity gradients. In average, spiral galaxies have a stellar metallicity gradient ∼ −0.1 dex per half-light radius, in agreement with the value estimated for the ionized gas oxygen abundance gradient by CALIFA. A global (M⋆-driven) and local (μ⋆-driven) stellar metallicity relation are derived. We find that in disks, the stellar mass surface density regulates the stellar metallicity; in spheroids, the galaxy stellar mass dominates the physics of star formation and chemical enrichment.
Methods to recover the fossil record of galaxy evolution encoded in their optical spectra have been instrumental in processing the avalanche of data from mega-surveys along the last decade, effectively transforming observed spectra onto a long and rich list of physical properties: from stellar masses and mean ages to full star formation histories. This promoted progress in our understanding of galaxies as a whole. Yet, the lack of spatial resolution introduces undesirable aperture effects, and hampers advances on the internal physics of galaxies. This is now changing with 3D surveys. The mapping of stellar populations in data-cubes allows us to figure what comes from where, unscrambling information previously available only in integrated form. This contribution uses our starlight-based analysis of 300 CALIFA galaxies to illustrate the power of spectral synthesis applied to data-cubes. The selected results highlighted here include: (a) The evolution of the mass-metallicity and mass-density-metallicity relations, as traced by the mean stellar metallicity. (b) A comparison of star formation rates obtained from Hα to those derived from full spectral fits. (c) The relation between star formation rate and dust optical depth within galaxies, which turns out to mimic the Schmidt-Kennicutt law. (d) PCA tomography experiments.
We study the stellar content of three galactic bulges with the high resolution gratings (R=7000) of the WiFeS integral field unit in order to better understand their formation and evolution. In all cases we find that at least 50% of the stellar mass already existed 12 Gyrs ago, more than currently predicted by simulations. A younger component (age between ∼1 to ∼8 Gyrs) is also prominent and its present day distribution seems to be much more affected by morphological structures, especially bars, than the older one. This in-depth analysis supports the notion of increasing complexity in bulges which cannot be achieved by mergers alone, but requires a non-negligible contribution from secular evolution.
For the first time in any ram pressure stripped galaxy, we detect large amounts of cold molecular gas in the X-ray bright, and star forming tail of ESO 137-001 in the Norma cluster. We find very low star formation efficiency in the stripped gas, similar to values found in the outer spiral disks where however molecular gas is mostly undetected. The results were recently published in Jáchym et al. (2014).
Wolf-Rayet HII galaxies are local metal-poor star-forming galaxies, observed when the most massive stars are evolving from O stars to WR stars, making them template systems to study distant starbursts. We have been performing a program to investigate the interplay between massive stars and gas in WR HII galaxies using IFS. Here, we highlight some results from the first 3D spectroscopic study of Mrk 178, the closest metal-poor WR HII galaxy, focusing on the origin of the nebular HeII emission and the aperture effects on the detection of WR features.
We continue our search for extragalactic Carbon Radio Recombination Lines (CRRL) in M82 with the LOw Frequency ARray (LOFAR; van Haarlem et al.2013). The goal of our project is to determine the physical conditions of the cold neutral gas in this object, for which low frequency radio recombination lines can provide a sensitive probe.
Voids represent a unique environment for the study of galaxy evolution, as the lower density environment is expected to result in shorter merger histories and slower evolution of galaxies. This provides an ideal opportunity to test theories of galaxy formation and evolution. Imaging of the neutral hydrogen, central in both driving and regulating star formation, directly traces the gas reservoir and can reveal interactions and signs of cold gas accretion. For a new Void Galaxy Survey (VGS), we have carefully selected a sample of 59 galaxies that reside in the deepest underdensities of geometrically identified voids within the SDSS at distances of ∼100 Mpc, and pursued deep UV, optical, Hα, IR, and HI imaging to study in detail the morphology and kinematics of both the stellar and gaseous components. This sample allows us to not only examine the global statistical properties of void galaxies, but also to explore the details of the dynamical properties. We present an overview of the VGS, and highlight key results on the HI content and individually interesting systems. In general, we find that the void galaxies are gas rich, low luminosity, blue disk galaxies, with optical and HI properties that are not unusual for their luminosity and morphology. We see evidence of both ongoing assembly, through the gas dynamics between interacting systems, and significant gas accretion, seen in extended gas disks and kinematic misalignments. The VGS establishes a local reference sample to be used in future HI surveys (CHILES, DINGO, LADUMA) that will directly observe the HI evolution of void galaxies over cosmic time.