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

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

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

Experimental neck muscle pain impairs standing balance in humans

Impaired postural control has been reported in patients with chronic neck pain of both traumatic and non-traumatic etiologies, but whether painful stimulation of neck muscle per se can affect balance control during quiet standing in humans remains unclear. The purpose of the present experiment was thus to investigate the effect of experimental neck muscle pain on standing balance in young healthy adults. To achieve this goal, 16 male university students were asked to stand upright as still as possible on a force platform with their eyes closed in two conditions of No pain and Pain of the neck muscles elicited by experimental painful electrical stimulation. Postural control and postural performance were assessed by the displacements of the center of foot pressure (CoP) and of the center of mass (CoM), respectively. The results showed increased CoP and CoM displacements variance, range, mean velocity, and mean and median frequencies in the Pain relative to the No pain condition. The present findings emphasize the destabilizing effect of experimental neck muscle pain per se, and more largely stress the importance of intact neck neuromuscular function on standing balance

Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISH

BACKGROUND: Pleuropulmonary blastoma (PPB) is a rare childhood dysontogenetic intrathoracic neoplasm associated with an unfavourable clinical behaviour. CASES PRESENTATION: We report pathological and cytogenetic findings in two cases of PPB at initial diagnosis and recurrence. Both tumors were classified as type III pneumoblastoma and histological findings were similar at diagnosis and relapse. In both cases, conventional cytogenetic techniques revealed complex numerical and structural chromosomal abnormalities. Molecular cytogenetic analysis (interphase/metaphase FISH and multicolor FISH) identified accurately chromosomal aberrations. In one case, TP53 gene deletion was detected on metaphase FISH. To date, only few cytogenetic data have been published about PPB. CONCLUSION: The PPB genetic profile remains to be established and compared to others embryonal neoplasia. Our cytogenetic data are discussed reviewing cytogenetics PPBs published cases, illustrating the contribution of multicolor FISH in order to identify pathogenetically important recurrent aberrations in PPB

Deceleration during 'real life' motor vehicle collisions – a sensitive predictor for the risk of sustaining a cervical spine injury?

<p>Abstract</p> <p>Background</p> <p>The predictive value of trauma impact for the severity of whiplash injuries has mainly been investigated in sled- and crash-test studies. However, very little data exist for real-life accidents. Therefore, the predictive value of the trauma impact as assessed by the change in velocity of the car due to the collision (ΔV) for the resulting cervical spine injuries were investigated in 57 cases after real-life car accidents.</p> <p>Methods</p> <p>ΔV was determined for every car and clinical findings related to the cervical spine were assessed and classified according to the Quebec Task Force (QTF).</p> <p>Results</p> <p>In our study, 32 (56%) subjects did not complain about symptoms and were therefore classified as QTF grade 0; 25 (44%) patients complained of neck pain: 8 (14%) were classified as QTF grade I, 6 (10%) as QTF grade II, and 11 (19%) as QTF grade IV. Only a slight correlation (r = 0.55) was found between the reported pain and ΔV. No relevant correlation was found between ΔV and the neck disability index (r = 0.46) and between ΔV and the QTF grade (r = 0.45) for any of the collision types. There was no ΔV threshold associated with acceptable sensitivity and specificity for the prognosis of a cervical spine injury.</p> <p>Conclusion</p> <p>The results of this study indicate that ΔV is not a conclusive predictor for cervical spine injury in real-life motor vehicle accidents. This is of importance for surgeons involved in medicolegal expertise jobs as well as patients who suffer from whiplash-associated disorders (WADs) after motor vehicle accidents.</p> <p>Trial registration</p> <p>The study complied with applicable German law and with the principles of the Helsinki Declaration and was approved by the institutional ethics commission.</p

Specific Recognition of p53 Tetramers by Peptides Derived from p53 Interacting Proteins

Oligomerization plays a major role in regulating the activity of many proteins, and in modulating their interactions. p53 is a homotetrameric transcription factor that has a pivotal role in tumor suppression. Its tetramerization domain is contained within its C-terminal domain, which is a site for numerous protein-protein interactions. Those can either depend on or regulate p53 oligomerization. Here we screened an array of peptides derived from proteins known to bind the tetrameric p53 C-terminal domain (p53CTD) and identified ten binding peptides. We quantitatively characterized their binding to p53CTD using fluorescence anisotropy. The peptides bound tetrameric p53CTD with micromolar affinities. Despite the high charge of the binding peptides, electrostatics contributed only mildly to the interactions. NMR studies indicated that the peptides bound p53CTD at defined sites. The most significant chemical shift deviations were observed for the peptides WS100B(81–92), which bound directly to the p53 tetramerization domain, and PKCα(281–295), which stabilized p53CTD in circular dichroism thermal denaturation studies. Using analytical ultracentrifugation, we found that several of the peptides bound preferentially to p53 tetramers. Our results indicate that the protein-protein interactions of p53 are dependent on the oligomerization state of p53. We conclude that peptides may be used to regulate the oligomerization of p53