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We take advantage of a state-of-art semianalytic model of galaxy formation, and the model presented by Contini & Gu, to investigate the mass distribution of brightest cluster galaxies (BCGs) and intracluster light (ICL) by addressing two points: (1) the region of transition between a BCG-dominated distribution and an ICL-dominated one, and (2) the relation between the total BCG+ICL mass and the ICL mass alone. We find the transition radius to be independent of both BCG+ICL and halo masses, with an average of 60 ± 40 kpc, in good agreement with previous observational measurements, but given the large scatter it can be considered as a sort of physical separation between the two components only on a cluster scale. From the analysis of the M ICLâ€" M BCG+ICL relation, we construct a method able to extract the ICL mass directly from knowledge of the BCG+ICL mass. Given the large scatter in low-mass systems, such a method under/overpredicts the true value of the ICL in a significant way, up to a factor of three in the worst cases. On the other hand, for log M BCG + ICL > 12 or log M Halo > 14 (where masses are in units of M ⊙), the difference between the true value and the one extracted from the M ICLâ€" M BCG+ICL relation ranges between ±30%. We therefore suggest this relation as a reliable test for observational works aiming to isolate the ICL from the BCG, for systems hosted by haloes on a cluster scale. [ABSTRACT FROM AUTHOR]

We present for the first time the timing and spectral analyses for a narrow-line Seyfert 1 galaxy, SBS 1353 + 564, using XMM-Newton and Swift multiband observations from 2007 to 2019. Our main results are as follows: (1) The temporal variability of SBS 1353+564 is random, while the hardness ratio is relatively constant over a time span of 13 yr; (2) We find a prominent soft X-ray excess feature below 2 keV that cannot be well described by a simple blackbody component; (3) After comparing the two most prevailing models for interpreting the origin of the soft X-ray excess, we find that the relativistically smeared reflection model is unable to fit the data above 5 keV well and the X-ray spectra do not show any reflection features, such as the Fe K α emission line. However, the warm corona model can obtain a good fitting result. For the warm corona model, we try to use three different sets of spin values to fit the data and derive different best-fitting parameter sets; (4) We compare the UV/optical spectral data with the extrapolated values of the warm corona model to determine which spin value is more appropriate for this source, and we find that the warm corona model with non-spin can sufficiently account for the soft X-ray excess in SBS 1353 + 564. [ABSTRACT FROM AUTHOR]

We improve the model presented in Contini & Gu that describes the radial mass distribution of brightest cluster galaxies (BCGs) and the diffuse component also known as intracluster light (ICL), by assuming that the global BCG+ICL radial mass distribution follows the sum of three profiles: Jaffe and exponential profiles for the bulge and disk of the BCG, respectively, and a modified version of an NFW profile for the ICL. We take advantage of a wide sample of BCG+ICL systems simulated with our state-of-the-art semianalytic model to (a) investigate the reliability of our BCG+ICL distribution by looking at several scaling relations between the BCG+ICL stellar mass within different apertures and the total BCG+ICL/halo mass, at different redshifts; (b) make a prediction of the distance where the radial distribution transitions from BCG to ICL dominated. We find that our model nicely reproduces all the observed scaling relations investigated at the present time with a compelling degree of precision, but slightly biased low with respect to observations at higher redshifts (z ≳ 0.5). The transition radius predicted by our model is in good agreement with recent observational results, and spans a range between ∼15 kpc and ∼100 kpc. It mostly depends on the morphology of the BCG, whether it is bulge or disk dominated, on the amount of ICL with respect to the bulge and/or disk, and on the dynamical state of the group/cluster. [ABSTRACT FROM AUTHOR]

We take advantage of a semianalytic model with a state-of-art implementation of the formation of the intracluster light (ICL) to study the mass distribution of the ICL in galaxy groups and clusters, at different redshifts. We assume the ICL to follow a Navarro–Frenk–White (NFW) profile with a different concentration, linked to that of the dark matter by the relation cICL = γ cDM, where the parameter γ is set to reproduce the observed relation between the stellar mass in the brightest cluster galaxy (BCG) and ICL in the innermost 100 kpc and the halo mass (M*100 − M500) at z = 0. The model is then tested against several theoretical and observational results, from the present time to z ∼ 1.5. Our analysis shows that the fraction of stellar mass in the BCG and ICL within the innermost 100 kpc is an increasing function of redshift, parameter γ, and a decreasing function of the halo mass. The value of γ required to match the observed M*100 − M500 is γ = 3 at z = 0, but there are indications that it might be a function of redshift and halo mass. This result indicates that the distribution of the ICL is more concentrated than the dark matter one, but less concentrated than previously found by other studies. We suggest that a modified version of the NFW is a good description of the distribution of the diffuse light in groups and clusters, which makes the ICL a reliable tracer of the dark matter, in good agreement with recent observational findings. [ABSTRACT FROM AUTHOR]

The physical parameters of galaxies and/or active galactic nucleus (AGNs) can be derived by fitting their multiband spectral energy distributions (SEDs). By using cigale code, we perform multiband SED fitting (from ultraviolet to infrared) for 791 X-ray sources (518 AGNs and 273 normal galaxies) in the 7 Ms Chandra Deep Field-south survey (CDFS). We consider the contributions from AGNs and adopt more accurate redshifts than published before. Therefore, more accurate star formation rates (SFRs) and stellar masses (M*) are derived. We classify the 518 AGNs into type-I and type-II based on their optical spectra and their SEDs. Moreover, six AGN candidates are selected from the 273 normal galaxies based on their SEDs. Our main results are as follows: (1) the host galaxies of AGNs have larger M* than normal galaxies, implying that AGNs prefer to host in massive galaxies; (2) the specific star formation rates (sSFRs) of AGN host galaxies are different from those of normal galaxies, suggesting that AGN feedback may play an important role in the star formation activity; (3) we find that the fraction of optically obscured AGNs in CDFS decreases with the increase of intrinsic X-ray luminosity, which is consistent with previous studies; and (4) the host galaxies of type-I AGNs tend to have lower M* than type-II AGNs, which may suggest that dust in the host galaxy may also contribute to the optical obscuration of AGNs. [ABSTRACT FROM AUTHOR]

Study Question: What is the diagnostic potential of next generation sequencing (NGS) based on a 'mouse azoospermia' gene panel in human non-obstructive azoospermia (NOA)?Summary Answer: The diagnostic performance of sequencing a gene panel based on genes associated with mouse azoospermia was relatively successful in idiopathic NOA patients and allowed the discovery of two novel genes involved in NOA due to meiotic arrest.What Is Known Already: NOA is a largely heterogeneous clinical entity, which includes different histological pictures. In a large proportion of NOA, the aetiology remains unknown (idiopathic NOA) and yet, unknown genetic factors are likely to play be involved. The mouse is the most broadly used mammalian model for studying human disease because of its usefulness for genetic manipulation and its genetic and physiological similarities to man. Mouse azoospermia models are available in the Mouse Genome Informatics database (MGI: http://www.informatics.jax.org/).Study Design, Size, Duration: The first step was to design of a 'mouse azoospermia' gene panel through the consultation of MGI. The second step was NGS analysis of 175 genes in a group of highly selected NOA patients (n = 33). The third step was characterization of the discovered gene defects in human testis tissue, through meiotic studies using surplus testicular biopsy material from the carriers of the RNF212 and STAG3 pathogenic variants. The final step was RNF212 and STAG3 expression analysis in a collection of testis biopsies.Participants/materials, Setting, Methods: From a total of 1300 infertile patients, 33 idiopathic NOA patients were analysed in this study, including 31 unrelated men and 2 brothers from a consanguineous family. The testis histology of the 31 unrelated NOA patients was as follows: 20 Sertoli cell-only syndrome (SCOS), 11 spermatogenic arrest (6 spermatogonial arrest and 5 spermatocytic arrest). The two brothers were affected by spermatocytic arrest. DNA extracted from blood was used for NGS on Illumina NextSeq500 platform. Generated sequence data was filtered for rare and potentially pathogenic variants. Functional studies in surplus testicular tissue from the carriers included the investigation of meiotic entry, XY body formation and metaphases by performing fluorescent immunohistochemical staining and immunocytochemistry. mRNA expression analysis through RT-qPCR of RNF212 and STAG3 was carried out in a collection of testis biopsies with different histology.Main Results and the Role Of Chance: Our approach was relatively successful, leading to the genetic diagnosis of one sporadic NOA patient and two NOA brothers. This relatively high diagnostic performance is likely to be related to the stringent patient selection criteria i.e. all known causes of azoospermia were excluded and to the relatively high number of patients with rare testis histology (spermatocytic arrest). All three mutation carriers presented meiotic arrest, leading to the genetic diagnosis of three out of seven cases with this specific testicular phenotype. For the first time, we report biallelic variants in STAG3, in one sporadic patient, and a homozygous RNF212 variant, in the two brothers, as the genetic cause of NOA. Meiotic studies allowed the detection of the functional consequences of the mutations and provided information on the role of STAG3 and RNF212 in human male meiosis.Limitations, Reasons For Caution: All genes, with the exception of 5 out of 175, included in the panel cause azoospermia in mice only in the homozygous or hemizygous state. Consequently, apart from the five known dominant genes, heterozygous variants (except compound heterozygosity) in the remaining genes were not taken into consideration as causes of NOA. We identified the genetic cause in approximately half of the patients with spermatocytic arrest. The low number of analysed patients can be considered as a limitation, but it is a very rare testis phenotype. Due to the low frequency of this specific phenotype among infertile men, our finding may be considered of low clinical impact. However, at an individual level, it does have relevance for prognostic purposes prior testicular sperm extraction.Wider Implications Of the Findings: Our study represents an additional step towards elucidating the genetic bases of early spermatogenic failure, since we discovered two new genes involved in human male meiotic arrest. We propose the inclusion of RNF212 and STAG3 in a future male infertility diagnostic gene panel. Based on the associated testis phenotype, the identification of pathogenic mutations in these genes also confers a negative predictive value for testicular sperm retrieval. Our meiotic studies provide novel insights into the role of these proteins in human male meiosis. Mutations in STAG3 were first described as a cause of female infertility and ovarian cancer, and Rnf212 knock out in mice leads to male and female infertility. Hence, our results stimulate further research on shared genetic factors causing infertility in both sexes and indicate that genetic counselling should involve not only male but also female relatives of NOA patients.Study Funding/competing Interest(s): This work was funded by the Spanish Ministry of Health Instituto Carlos III-FIS (grant number: FIS/FEDER-PI14/01250; PI17/01822) awarded to CK and AR-E, and by the European Commission, Reproductive Biology Early Research Training (REPROTRAIN, EU-FP7-PEOPLE-2011-ITN289880), awarded to CK, WB, and AE-M. The authors have no conflict of interest. [ABSTRACT FROM AUTHOR]

Gravitational lensing by clusters of galaxies offers a powerful probe of their structure and mass distribution. Several research groups have developed techniques independently to achieve this goal. While these methods have all provided remarkably high-precision mass maps, particularly with exquisite imaging data from the Hubble Space Telescope (HST), the reconstructions themselves have never been directly compared. In this paper, we present for the first time a detailed comparison of methodologies for fidelity, accuracy and precision. For this collaborative exercise, the lens modelling community was provided simulated cluster images that mimic the depth and resolution of the ongoing HST Frontier Fields. The results of the submitted reconstructions with the un-blinded true mass profile of these two clusters are presented here. Parametric, free-form and hybrid techniques have been deployed by the participating groups and we detail the strengths and trade-offs in accuracy and systematics that arise for each methodology. We note in conclusion that several properties of the lensing clusters are recovered equally well by most of the lensing techniques compared in this study. For example, the reconstruction of azimuthally averaged density and mass profiles by both parametric and freeform methods matches the input models at the level of ~10 per cent. Parametric techniques are generally better at recovering the 2D maps of the convergence and of the magnification. For the best-performing algorithms, the accuracy in the magnification estimate is ~10 per cent at μtrue = 3 and it degrades to ~30 per cent at μtrue ~ 10. [ABSTRACT FROM AUTHOR]

Otofaciocervical syndrome ( OFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies, and mild intellectual disability. Autosomal dominant cases are caused by deletions or point mutations of EYA1. A single family with an autosomal recessive form of OFCS and a homozygous missense mutation in PAX1 gene has been described. We report whole exome sequencing of 4 members of a consanguineous family in which 2 children, showing features of OFCS, expired from severe combined immunodeficiency ( SCID). To date, the co-occurrence of OFCS and SCID has never been reported. We found a nonsense homozygous mutation in PAX1 gene in the 2 affected children. In mice, Pax1 is required for the formation of specific skeletal structures as well as for the development of a fully functional thymus. The mouse model strongly supports the hypothesis that PAX1 depletion in our patients caused thymus aplasia responsible for SCID. This report provides evidence that bi-allelic null PAX1 mutations may lead to a multi-system autosomal recessive disorders, where SCID might represent the main feature. [ABSTRACT FROM AUTHOR]

Our purpose was to determine if using an individual's power-specific gross efficiency improves the accuracy of estimating energy expenditure from cycling power. 30 subjects performed a graded cycling test to develop 4 gross efficiencies: individual power-specific gross efficiencies, a group mean power-specific gross efficiency, individual fixed gross efficiencies, and a group mean fixed gross efficiency. Energy expenditure was estimated from power using these different gross efficiencies and compared to measured energy expenditure during moderate- and hard-intensity constant-power and 2 variable-power cycling bouts. Estimated energy expenditures using individual or group mean power-specific gross efficiencies were not different from measured energy expenditure across all cycling bouts (p>0.05). To examine the intra-individual variability of the estimates, absolute difference scores (absolute value of estimated minus measured energy expenditure) were compared, where values closer to zero represent more accurate individual estimates. The absolute difference score using individual power-specific gross efficiencies was significantly lower compared to the other gross efficiencies across all cycling bouts (p<0.01). Significant and strong correlations (r≥0.97, p< 0.001) were found across all cycling bouts between estimated and measured energy expenditures using individual power-specific gross efficiencies. In conclusion, using an individual's power-specific gross efficiency significantly improves their energy expenditure estimate across different power outputs. [ABSTRACT FROM AUTHOR]

We investigate the galaxy population in simulated protocluster regions using a semi-analytic model of galaxy formation, coupled to merger-trees extracted from N-body simulations. We select the most massive clusters at redshift z = 0 from our set of simulations, and follow their main progenitors back in time. The analysis shows that protocluster regions are dominated by central galaxies and their number decreases with time as many become satellites, clustering around the central object. In agreement with observations, we find an increasing velocity dispersion with cosmic time, the increase being faster for satellites. The analysis shows that protoclusters are very extended regions, ≳20 Mpc at z ≳ 1. The fraction of galaxies in protocluster regions that are not progenitor of cluster galaxies varies with redshift, stellar mass and area considered. It is about 20-30 per cent for galaxies with stellar mass ~109M⊙, while negligible for the most massive galaxies considered. Nevertheless, these objects have properties similar to those of progenitors. We investigate the building-up of the passive sequence in clusters, and find that their progenitors are on average always active at any redshift of interest of protoclusters. The main mechanism which quenches their star formation is the removal of the hot gas reservoir at the time of accretion. The later galaxies are accreted (become satellite), and the more the cold gas available, the longer the time spent as active. Central galaxies are active over all redshift range considered, although a non-negligible fraction of them become passive at redshift z < 1, due to strong feedback from active galactic nuclei. [ABSTRACT FROM AUTHOR]

Context. By means of our own cosmological-hydrodynamical simulation (SIM) and semi-analytical model (SAM), we studied galaxy population properties in clusters and groups, spanning over ten different bands from the ultraviolet to the near-infrared (NIR), and their evolution since redshift z = 2. Aims. We compare our results in terms of red/blue galaxy fractions and of the luminous-to-faint ratio (LFR) on the red sequence (RS) with recent observational data reaching beyond z = 1.5. Methods. Different selection criteria were tested to retrieve the galaxies that effectively belong to the RS: either by their quiescence degree measured from their specific star formation rate (sSFR; the so-called "dead sequence"), or by their position in a colour-colour plane, which is also a function of sSFR. In both cases, the colour cut and the lower limit magnitude thresholds were let to evolve with redshift so that they would follow the natural shift of the characteristic luminosity in the luminosity function (LF). Results. We find that the Butcher-Oemler effect is wavelength-dependent, with the fraction of blue galaxies increasing more steeply in optical-optical than in NIR-optical colours. Moreover, a steep trend in the blue fraction can only be reproduced when an optically fixed luminosity-selected sample is chosen, while the trend flattens when selecting samples by stellar mass or by an evolving magnitude limit. We also find that the RS-LFR behaviour, highly debated in the literature, is strongly dependent on the galaxy selection function: in particular, the very mild evolution that is recovered when using a mass-selected galaxy sample agrees with values reported for some of the highest redshift-confirmed (proto)clusters. For differences that are attributable to environments, we find that normal groups and (to a lesser extent) cluster outskirts present the highest values of both the star-forming fraction and LFR at low z, while fossil groups and cluster cores have the lowest values: this separation among groups begins after z ~ 0.5, while at earlier epochs all groups share similar star-forming properties. Conclusions. Our results support a picture where star formation is still active in SIM galaxies at redshift 2, in contrast with SAM galaxies, which have formed earlier and are already quiescent in cluster cores at that epoch. Over the whole interval considered, we also find that the more massive RS galaxies from the mass-selected sample grow their stellar mass at a higher rate than less massive ones. On the other hand, no dearth of red dwarfs is reported at z ≳ 1 from either model. [ABSTRACT FROM AUTHOR]

A well-calibrated method to describe the environment of galaxies at all redshifts is essential for the study of structure formation. Such a calibration should include well-understood correlations with halo mass, and the possibility to identify galaxies which dominate their potential well (centrals), and their satellites. Focusing on z ~ 1 and 2, we propose a method of environmental calibration which can be applied to the next generation of low- to medium-resolution spectroscopic surveys. Using an up-to-date semi-analytic model of galaxy formation, we measure the local density of galaxies in fixed apertures on different scales. There is a clear correlation of density with halo mass for satellite galaxies, while a significant population of low-mass centrals is found at high densities in the neighbourhood of massive haloes. In this case, the density simply traces the mass of the most massive halo within the aperture. To identify central and satellite galaxies, we apply an observationally motivated stellar mass rank method which is both highly pure and complete, especially in the more massive haloes where such a division is most meaningful. Finally, we examine a test case for the recovery of environmental trends: the passive fraction of galaxies and its dependence on stellar and halo mass for centrals and satellites. With careful calibration, observationally defined quantities do a good job of recovering known trends in the model. This result stands even with reduced redshift accuracy, provided the sample is deep enough to preserve a wide dynamic range of density. [ABSTRACT FROM AUTHOR]

Many studies confirmed the efficacy and safety of continuous infusion of intrajejunal levodopa/carbidopa gel (CIILG) for advanced Parkinson's disease (PD). Although this treatment is widely used, definite inclusion/exclusion criteria do not exist. In this prospective open-label study, we evaluated the long-term outcome in 28 consecutive patients and sought to detect any predictive factor to identify the best candidates for CIILG therapy. The assessment was carried out routinely at baseline, after 6 months and every year with UPDRS III-IV, FOG Questionnaire, non-motor symptoms scale, PD questionnaire (PDQ-8), cognitive and psychiatric status evaluation (MMSE, FAB, NPI) and caregiver's quality of life. 17/28 patients reached the 24-month follow-up. A statistically significant beneficial effect was shown on motor complications in short- and long-term follow-up, also on axial symptoms like gait disturbances. A concomitant improvement in PDQ8 score was observed, with a parallel mild amelioration, but not significant, on Caregivers QoL. When classified according to their outcome on QoL, the only predictive positive factor was less severe at Neuropsychiatric Inventory (NPI) score at baseline. Considering the improvement in motor scores (duration of 'off' period), the more advanced age was associated with a poorer outcome. Our results confirmed a sustained efficacy and safety in long-term follow-up and suggest that younger age at operation and absence or mild presence of psychiatric/behavioural symptoms could be considered valid predicting factors in selecting the best candidates for this efficacious therapy. [ABSTRACT FROM AUTHOR]

ABSTRACT We study the amount and distribution of dark matter substructures within dark matter haloes, using a large set of high-resolution simulations ranging from group-size to cluster-size haloes, and carried out within a cosmological model consistent with Wilkinson Microwave Anisotropy Probe ( WMAP) 7-year data. In particular, we study how the measured properties of subhaloes vary as a function of the parent halo mass, the physical properties of the parent halo and redshift. The fraction of halo mass in substructures increases with increasing mass: it is of the order of 5 per cent for haloes with M200∼ 1013 M⊙ and of the order of 10 per cent for the most massive haloes in our sample, with M200∼ 1015 M⊙. There is, however, a very large halo-to-halo scatter that can be explained only in part by a range of halo physical properties, e.g. concentration. At a given halo mass, less concentrated haloes contain significantly larger fractions of mass in substructures because of the reduced strength of tidal disruption. Most of the substructure mass is located at the outskirts of the parent haloes, in relatively few massive subhaloes. This mass segregation appears to become stronger at increasing redshift, and should reflect into a more significant mass segregation of the galaxy population at different cosmic epochs. When haloes are accreted on to larger structures, their mass is significantly reduced by tidal stripping. Haloes that are more massive at the time of accretion (these should host more luminous galaxies) are brought closer to the centre on shorter time-scales by dynamical friction, and therefore suffer a more significant stripping. The halo merger rate depends strongly on the environment with substructure in more massive haloes suffering more important mergers than their counterparts residing in less massive systems. This should translate into a different morphological mix for haloes of different mass. [ABSTRACT FROM AUTHOR]