Reproduction of the azooxanthellate coral Caryophyllia inornata is not affected by temperature along an 850 km gradient on the Western Italian coast

The Intergovernmental Panel on Climate Change (IPCC) predicted that ocean surface temperature will rise of 0.6–2.0◦C by 2100. Ocean warming is expected to produce strong impacts on marine ecosystems such as coral reefs, affecting their physiological events including reproductive processes. To date, relatively few studies have examined the effects of climate change on the reproductive success of temperate corals and even less in the azooxanthellate ones. This study examined the reproductive output of the azooxanthellate Mediterranean coral Caryophyllia inornata along a wide latitudinal gradient of seawater temperature and solar radiation. A total of 260 samples, collected from five populations along the Western Italian coast, have been analyzed through histological techniques. The intriguing aspects characterizing all populations of C. inornata along the latitudinal gradient are a strong male-biased sex ratio and the presence of embryos in all stages of development throughout the year in females, males, and sexually inactive individuals. This peculiarity could suggest a mixed strategy of sexual and asexual reproduction in this species as has been observed for some anemones of the genus Actinia. Fecundity and spermary abundance (i.e., the number of reproductive elements per body volume unit), gonadal index (i.e., the percentage of body volume occupied by the germ cells) and fertility (i.e., the number of embryos per body volume unit) in females, males and sexually inactive individuals were unrelated to solar radiation and temperature along the latitudinal gradient. These results suggest that the reproduction in C. inornata is not affected by increasing solar radiation and temperature. The lack of zooxanthellae could make this species less dependent on these environmental parameters, as previously hypothesized for another azooxanthellate species, Leptopsammia pruvoti, investigated along the same gradient

Lipopolysaccharide modulates astrocytic S100B secretion: a study in cerebrospinal fluid and astrocyte cultures from rats

<p>Abstract</p> <p>Background</p> <p>Inflammatory responses in brain are primarily mediated by microglia, but growing evidence suggests a crucial importance of astrocytes. S100B, a calcium-binding protein secreted by astrocytes, has properties of a neurotrophic or an inflammatory cytokine. However, it is not known whether primary signals occurring during induction of an inflammatory response (e.g. lipopolysaccharide, LPS) directly modulate S100B.</p> <p>Methods</p> <p>In this work, we evaluated whether S100B levels in cerebrospinal fluid (CSF) and serum of Wistar rats are affected by LPS administered by intraperitoneal (IP) or intracerebroventricular (ICV) injection, as well as whether primary astrocyte cultures respond directly to lipopolysaccharide.</p> <p>Results</p> <p>Our data suggest that S100B secretion in brain tissue is stimulated rapidly and persistently (for at least 24 h) by ICV LPS administration. This increase in CSF S100B was transient when LPS was IP administered. In contrast to these S100B results, we observed an increase in in TNFα levels in serum, but not in CSF, after IP administration of LPS. In isolated astrocytes and in acute hippocampal slices, we observed a direct stimulation of S100B secretion by LPS at a concentration of 10 μg/mL. An involvement of TLR4 was confirmed by use of specific inhibitors. However, lower levels of LPS in astrocyte cultures were able to induce a decrease in S100B secretion after 24 h, without significant change in intracellular content of S100B. In addition, after 24 h exposure to LPS, we observed a decrease in astrocytic glutathione and an increase in astrocytic glial fibrillary acidic protein.</p> <p>Conclusions</p> <p>Together, these data contribute to the understanding of the effects of LPS on astrocytes, particularly on S100B secretion, and help us to interpret cerebrospinal fluid and serum changes for this protein in neuroinflammatory diseases. Moreover, non-brain S100B-expressing tissues may be differentially regulated, since LPS administration did not lead to increased serum levels of S100B.</p

Precision Newborn Screening for Lysosomal Disorders

Purpose: The implementation of newborn screening for lysosomal disorders has uncovered overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up testing of false-positive cases. We report an informatics solution proven to minimize these issues. Methods: The Kentucky Department for Public Health outsourced testing for mucopolysaccharidosis type I (MPS I) and Pompe disease, conditions recently added to the recommended uniform screening panel, plus Krabbe disease, which was added by legislative mandate. A total of 55,161 specimens were collected from infants born over 1 year starting from February 2016. Testing by tandem mass spectrometry was integrated with multivariate pattern recognition software (Collaborative Laboratory Integrated Reports), which is freely available to newborn screening programs for selection of cases for which a biochemical second-tier test is needed. Results: Of five presumptive positive cases, one was affected with infantile Krabbe disease, two with Pompe disease, and one with MPS I. The remaining case was a heterozygote for the latter condition. The false-positive rate was 0.0018% and the positive predictive value was 80%. Conclusion: Postanalytical interpretive tools can drastically reduce false-positive outcomes, with preliminary evidence of no greater risk of false-negative events, still to be verified by long-term surveillance

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula

Acessível em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375120/Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated methionine and homocysteine in plasma and homocystine in urine. This condition is characterized by a high clinical heterogeneity, which contributes to late clinical diagnosis, usually only made after irreversible damage has occurred. Treatment is effective if started before clinical symptoms. The analysis of methionine levels by tandem mass spectrometry (MS/MS) allows the newborn screening for homocystinuria, but false-positive results can be frequently obtained and lead to the unwanted identification of methionine adenosyl transferase (MAT I/III) deficiency. This latter condition is biochemically characterized by isolated persistent hypermethioninemia, accompanied in some individuals with slightly elevated levels of homocysteine in plasma. A dominant form of MAT I/III deficiency, associated with mutation p.R264H, seems to be very frequent in the Iberian Peninsula and usually has a clinically benign course. Both these metabolic disorders are screened in Galicia and Portugal since the introduction of the MS/MS technology, in 2000 and 2004, respectively, resulting in the identification of three patients with classical homocystinuria and 44 patients with MAT I/III deficiency. All but one heterozygous parent of MAT I/III patients, identified with the p.R264H mutation, are healthy adults around the age of 30/40. The implementation of a second-tier test for homocysteine in dried blood spots would considerably reduce the number of MAT I/III-deficient patients identified and improve the specificity and positive predictive value for classical homocystinuria screening

Moonlighting Newborn Screening Markers: The Incidental Discovery of a Second-Tier Test for Pompe Disease

Purpose: To describe a novel biochemical marker in dried blood spots suitable to improve the specificity of newborn screening for Pompe disease. Methods: The new marker is a ratio calculated between the creatine/creatinine (Cre/Crn) ratio as the numerator and the activity of acid α-glucosidase (GAA) as the denominator. Using Collaborative Laboratory Integrated Reports (CLIR), the new marker was incorporated in a dual scatter plot that can achieve almost complete segregation between Pompe disease and false-positive cases. Results: The (Cre/Crn)/GAA ratio was measured in residual dried blood spots of five Pompe cases and was found to be elevated (range 4.41–13.26; 99%ile of neonatal controls: 1.10). Verification was by analysis of 39 blinded specimens that included 10 controls, 24 samples with a definitive classification (16 Pompe, 8 false positives), and 5 with genotypes of uncertain significance. The CLIR tool showed 100% concordance of classification for the 24 known cases. Of the remaining five cases, three p.V222M homozygotes, a benign variant, were classified by CLIR as false positives; two with genotypes of unknown significance, one likely informative, were categorized as Pompe disease. Conclusion: The CLIR tool inclusive of the new ratio could have prevented at least 12 of 13 (92%) false-positive outcomes

CLASH-VLT: Abell S1063: Cluster assembly history and spectroscopic catalogue

Context. The processes responsible for galaxy evolution in different environments as a function of galaxy mass remain heavily debated. Rich galaxy clusters are ideal laboratories in which to distinguish the role of environmental versus mass quenching because they consist of a full range of galaxies and environments. Aims. Using the CLASH-VLT survey, we assembled an unprecedentedly large sample of 1234 spectroscopically confirmed members in Abell S1063. We found a dynamically complex structure at «zcl»= 0.3457 with a velocity dispersion σv = 1380-32+26 km s-1. We investigated cluster environmental and dynamical effects by analysing the projected phase-space diagram and the orbits as a function of galaxy spectral properties. Methods. We classified cluster galaxies according to the presence and strength of the [OII] emission line, the strength of the Hδ absorption line, and colours. We investigated the relation between the spectral classes of galaxies and their position in the projected phase-space diagram. We separately analysed red and blue galaxy orbits. By correlating the observed positions and velocities with the projected phase-space constructed from simulations, we constrained the accretion redshift of galaxies with different spectral types. Results. Passive galaxies are mainly located in the virialised region, while emission-line galaxies lie beyond r200 and are accreted into the cluster at a later time. Emission-line and post-starburst galaxies show an asymmetric distribution in projected phase-space within r200; emission-line galaxies are prominent at Δv/σ ≲ -1.5 and post-starburst galaxies at Δv/σ ≲ 1.5, suggesting that backsplash galaxies lie at high positive velocities. We find that low-mass passive galaxies are accreted into the cluster before high-mass galaxies. This suggests that we observe as passives only the low-mass galaxies that are accreted early into the cluster as blue galaxies. They had the time to quench their star formation. We also find that red galaxies move on more radial orbits than blue galaxies. This can be explained if infalling galaxies can remain blue by moving on tangential orbits

The PAU Survey: a new constraint on galaxy formation models using the observed colour redshift relation

We use the GALFORM semi-analytical galaxy formation model implemented in the Planck Millennium N-body simulation to build a mock galaxy catalogue on an observer’s past lightcone. The mass resolution of this N-body simulation is almost an order of magnitude better than in previous simulations used for this purpose, allowing us to probe fainter galaxies and hence build a more complete mock catalogue at low redshifts. The high time cadence of the simulation outputs allows us to make improved calculations of galaxy properties and positions in the mock. We test the predictions of the mock against the Physics of the Accelerating Universe Survey, a narrow-band imaging survey with highly accurate and precise photometric redshifts, which probes the galaxy population over a lookback time of 8 billion years. We compare the model against the observed number counts, redshift distribution, and evolution of the observed colours and find good agreement; these statistics avoid the need for model-dependent processing of the observations. The model produces red and blue populations that have similar median colours to the observations. However, the bimodality of galaxy colours in the model is stronger than in the observations. This bimodality is reduced on including a simple model for errors in the GALFORM photometry. We examine how the model predictions for the observed galaxy colours change when perturbing key model parameters. This exercise shows that the median colours and relative abundance of red and blue galaxies provide constraints on the strength of the feedback driven by supernovae used in the model