Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant

Mucolipidosis type II (MLII, MIM 252500) is a lysosomal storage disorders caused by defects i

An asteroseismic test of diffusion theory in white dwarfs

The helium-atmosphere (DB) white dwarfs are commonly thought to be the descendants of the hotter PG1159 stars, which initially have uniform He/C/O atmospheres. In this evolutionary scenario, diffusion builds a pure He surface layer which gradually thickens as the star cools. In the temperature range of the pulsating DB white dwarfs (T_eff ~ 25,000 K) this transformation is still taking place, allowing asteroseismic tests of the theory. We have obtained dual-site observations of the pulsating DB star CBS114, to complement existing observations of the slightly cooler star GD358. We recover the 7 independent pulsation modes that were previously known, and we discover 4 new ones to provide additional constraints on the models. We perform objective global fitting of our updated double-layered envelope models to both sets of observations, leading to determinations of the envelope masses and pure He surface layers that qualitatively agree with the expectations of diffusion theory. These results provide new asteroseismic evidence supporting one of the central assumptions of spectral evolution theory, linking the DB white dwarfs to PG1159 stars.Comment: 7 pages, 3 figures, 3 tables, accepted for publication in A&

Extensive Metastatic Sarcomatoid Renal Cell Carcinoma Evaluated by 18F-FDG PET/CT: a Case Report and Review of Literature

Sarcomatoid renal cell carcinoma (sRCC) is a highly aggressive form of dedifferentiated renal cell carcinoma. We report a 62-year-old man who presented with respiratory symptoms and a lung mass on chest computed tomography (CT). The patient underwent positron emission tomography/computed tomography (PET/CT) with 18F-fluorodeoxyglucose (18F-FDG) and was found to have extensive metastatic disease. Based on the history and imaging findings, there were possible primary malignancies, including bronchogenic carcinoma, melanoma, or an aggressive lymphoma. An excisional biopsy surprisingly revealed a high-grade sarcomatoid carcinoma with no evidence of differentiation, and immunohistochemical (IHC) studies showed that the tumor cells were positive for markers of genitourinary origin (PAX-8 and vimentin). The histologic and IHC results, along with multiple FDG-avid exophytic lesions in both kidneys, were considered diagnostic of sRCC. Here we have highlighted the potential role of 18F-FDG-PET-CT in patients with sRCC, discussed the diagnostic challenges, and presented a brief review

Asteroseismology of the Kepler V777 Her variable white dwarf with fully evolutionary models

DBV stars are pulsating white dwarfs with atmospheres rich in He. Asteroseismology of DBV stars can provide valuable clues about the origin, structure and evolution of hydrogen-deficient white dwarfs, and may allow to study neutrino and axion physics. Recently, a new DBV star, KIC 8626021, has been discovered in the field of the \emph{Kepler} spacecraft. It is expected that further monitoring of this star in the next years will enable astronomers to determine its detailed asteroseismic profile. We perform an asteroseismological analysis of KIC 8626021 on the basis of fully evolutionary DB white-dwarf models. We employ a complete set of evolutionary DB white-dwarf structures covering a wide range of effective temperatures and stellar masses. They have been obtained on the basis of a complete treatment of the evolutionary history of progenitors stars. We compute g-mode adiabatic pulsation periods for this set of models and compare them with the pulsation properties exhibited by KIC 8626021. On the basis of the mean period spacing of the star, we found that the stellar mass should be substantially larger than spectroscopy indicates. From period-to-period fits we found an asteroseismological model characterized by an effective temperature much higher than the spectroscopic estimate. In agreement with a recent asteroseismological analysis of this star by other authors, we conclude that KIC 8626021 is located near the blue edge of the DBV instability strip, contrarily to spectroscopic predictions. We also conclude that the mass of KIC 8626021 should be substantially larger than thought.Comment: 7 pages, 5 figures, 3 tables. To be published in Astronomy and Astrophysic

Evolution of a 3 \msun star from the main sequence to the ZZ Ceti stage: the role played by element diffusion

The purpose of this paper is to present new full evolutionary calculations for DA white dwarf stars with the major aim of providing a physically sound reference frame for exploring the pulsation properties of the resulting models in future communications. Here, white dwarf evolution is followed in a self-consistent way with the predictions of time dependent element diffusion and nuclear burning. In addition, full account is taken of the evolutionary stages prior to the white dwarf formation. In particular, we follow the evolution of a 3 \msun model from the zero-age main sequence (the adopted metallicity is Z=0.02) all the way from the stages of hydrogen and helium burning in the core up to the thermally pulsing phase. After experiencing 11 thermal pulses, the model is forced to evolve towards its white dwarf configuration by invoking strong mass loss episodes. Further evolution is followed down to the domain of the ZZ Ceti stars on the white dwarf cooling branch. Emphasis is placed on the evolution of the chemical abundance distribution due to diffusion processes and the role played by hydrogen burning during the white dwarf evolution. Furthermore, the implications of our evolutionary models for the main quantities relevant for adiabatic pulsation analysis are discussed. Interestingly, the shape of the Ledoux term is markedly smoother as compared with previous detailed studies of white dwarfs. This is translated into a different behaviour of the Brunt-Vaisala frequency.Comment: 11 pages, 11 figures, accepted for publication in MNRA

Mobilisation of arsenic from bauxite residue (red mud) affected soils: effect of pH and redox conditions

The tailings dam breach at the Ajka alumina plant, western Hungary in 2010 introduced ~1 million m3 of red mud suspension into the surrounding area. Red mud (fine fraction bauxite residue) has a characteristically alkaline pH and contains several potentially toxic elements, including arsenic. Aerobic and anaerobic batch experiments were prepared using soils from near Ajka in order to investigate the effects of red mud addition on soil biogeochemistry and arsenic mobility in soil–water experiments representative of land affected by the red mud spill. XAS analysis showed that As was present in the red mud as As(V) in the form of arsenate. The remobilisation of red mud associated arsenate was highly pH dependent and the addition of phosphate to red mud suspensions greatly enhanced As release to solution. In aerobic batch experiments, where red mud was mixed with soils, As release to solution was highly dependent on pH. Carbonation of these alkaline solutions by dissolution of atmospheric CO2 reduced pH, which resulted in a decrease of aqueous As concentrations over time. However, this did not result in complete removal of aqueous As in any of the experiments. Carbonation did not occur in anaerobic experiments and pH remained high. Aqueous As concentrations initially increased in all the anaerobic red mud amended experiments, and then remained relatively constant as the systems became more reducing, both XANES and HPLC–ICP-MS showed that no As reduction processes occurred and that only As(V) species were present. These experiments show that there is the potential for increased As mobility in soil–water systems affected by red mud addition under both aerobic and anaerobic conditions

Observations of the pulsating subdwarf B star Feige 48: Constraints on evolution and companions

Since pulsating subdwarf B (sdBV or EC14026) stars were first discovered (Kilkenny et al, 1997), observational efforts have tried to realize their potential for constraining the interior physics of extreme horizontal branch (EHB) stars. Difficulties encountered along the way include uncertain mode identifications and a lack of stable pulsation mode properties. Here we report on Feige 48, an sdBV star for which follow-up observations have been obtained spanning more than four years, which shows some stable pulsation modes. We resolve the temporal spectrum into five stable pulsation periods in the range 340 to 380 seconds with amplitudes less than 1%, and two additional periods that appear in one dataset each. The three largest amplitude periodicities are nearly equally spaced, and we explore the consequences of identifying them as a rotationally split l=1 triplet by consulting with a representative stellar model. The general stability of the pulsation amplitudes and phases allows us to use the pulsation phases to constrain the timescale of evolution for this sdBV star. Additionally, we are able to place interesting limits on any stellar or planetary companion to Feige 48.Comment: accepted for publication in MNRA

Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences

Pleuropulmonary blastoma is a rare childhood malignancy of lung mesenchymal cells that can remain dormant as epithelial cysts or progress to high-grade sarcoma. Predisposing germline loss-of-function DICER1 variants have been described. We sought to uncover additional contributors through whole exome sequencing of 15 tumor/normal pairs, followed by targeted resequencing, miRNA analysis and immunohistochemical analysis of additional tumors. In addition to frequent biallelic loss of TP53 and mutations of NRAS or BRAF in some cases, each case had compound disruption of DICER1: a germline (12 cases) or somatic (3 cases) loss-of-function variant plus a somatic missense mutation in the RNase IIIb domain. 5p-Derived microRNA (miRNA) transcripts retained abnormal precursor miRNA loop sequences normally removed by DICER1. This work both defines a genetic interaction landscape with DICER1 mutation and provides evidence for alteration in miRNA transcripts as a consequence of DICER1 disruption in cancer

Unique White Dwarfs Accompanying Recycled Pulsars

I introduce the two classes of pulsar, white-dwarf binaries, and describe for each what we have learned from a specific system, PSR J1012+5307 and PSR B0655+64, respectively, summarising what has been done, presenting new results, and discussing what the future may hold. Briefly, for the companion of PSR J1012+5307 we find a DA spectrum, and infer a mass of about 0.16Msun, the lowest among all spectroscopically identified white dwarfs. Combined with a radial-velocity orbit, a neutron-star mass between 1.5 and 3.2Msun (95% conf.) is derived. The companion of PSR B0655+64 shows strong Swan C2 bands, i.e., it is a DQ star. Unlike anything reported for other DQs, however, it shows variations in strength of the bands by a factor two. Most likely, the variations are periodic, with a period of about 9.7h. This is substantially shorter than the 1-day orbital period, which can likely be understood in terms of its past evolution.Comment: 6 pages of text and 2 figures, LaTeX using crckapb.sty (included) and psfig.sty. To appear in Proc. 10th European Workshop on white dwarfs (Eds. Isern, Hernanz, & Garcia-Berro

The Effects of Element Diffusion on the Pulsational Properties of Variable DA White Dwarf Stars

We explore the effects of element diffusion due to gravitational settling and thermal and chemical diffusion on the pulsational properties of DA white dwarfs. To this end, we employ an updated evolutionary code coupled with a pulsational, finite difference code for computing the linear, non-radial g-modes in the adiabatic approximation. We follow the evolution of a 0.55 \msun white dwarf model in a self-consistent way with the evolution of chemical abundance distribution as given by time dependent diffusion processes. Results are compared with the standard treatment of diffusive equilibrium in the trace element approximation. Appreciable differences are found between the two employed treatments. We conclude that time dependent element diffusion plays an important role in determining the whole oscillation pattern and the temporal derivative of the periods in DAV white dwarfs. In addition, we discuss the plausibility of the standard description employed in accounting for diffusion in most of white dwarf asteroseismological studies.Comment: 6 pages, 5 figures, accepted for publication in MNRA