Involvement of large rearrangements in MSH6 and PMS2 genes in southern Italian patients with Lynch syndrome

Background and aim of the work: The Lynch Syndrome (LS) is associated with germline mutations in one of the MisMatch Repair (MMR) genes. Most of germline mutations are point variants, followed by large rearrangements that account to 15-55% of all pathogenic mutations. Many study reporting the frequency of large rearrangements in the MLH1 and MSH2 genes were performed, while, little is known about the contribution of large rearrangements in other MMR genes, as PMS2 and MSH6. Therefore, in this study we investigated the involvment of large rearrangements in MSH6 and PMS2 genes in a well-characterized series of 20 LS southern Italian patients. Methods: These large rearrangements are not usually detected by methods of mutation analysis, such as denaturing high-performance liquid chromatography (DHPLC) and direct DNA sequencing, but they are detectable by a known technique as the Multiplex Ligation-Probe Dependent Amplification (MLPA) assay. Results: No large rearrangements were identified in MSH6 gene; instead, a large rearrangement was identified in PMS2 gene. A large duplication including the exons 3 and 4 of the PMS2 gene was identified in a patient who developed a rectum carcinoma at 45 years of age, an endometrial carcinoma and a vaginal cancer at the 65 years of age. Conclusion: We can affirm that the detection of large rearrangements in the MSH6 and PMS2 genes should be included in the routine testing for Lynch syndrome, especially considering the simplicity of the MLPA assay

Identification and molecular characterization of a novel mutation in MSH2 gene in a lynch syndrome family

Background and aim of the work: The Lynch Syndrome (LS) is associated with germline mutations in one of the MisMatch Repair (MMR) genes, including MLH1, MSH2, MSH6, PMS2, MLH3 and MSH3. The molecular characterization of mutations in these MMR genes facilitates the pre-symptomatic diagnosis of subjects at risk to develop a colon cancer or a cancer LS-related. Methods: DHPLC and direct sequencing were performed for the mutation detection analysis. Results: In this study, we identified a novel frame shift mutation, the named is c.170delT in MSH2 gene that determined a premature stop codon and consequently, the formation of a truncated protein (p. Val56Glyfs*7). This is a novel mutation, as it has not been reported before in the international scientific literature. This mutation was found in two subjects (father and son) belonging to a LS family. However, they showed a different phenotype disease. Conclusion: In this study, we identified and characterized a novel MSH2 mutation; moreover, this study reaffirmed the importance of genetic testing in Lynch syndrome

Electro-chemical deposition of zinc oxide nanostructures by using two electrodes

One of the most viable ways to grow nanostructures is electro deposition. However, most electrodeposited samples are obtained by three-electrode electrochemical cell. We successfully use a much simpler two-electrode cell to grow different ZnO nanostructures from common chemical reagents. Concentration, pH of the electrolytes and growth parameters like potentials at the electrodes, are tailored to allow fast growth without complexity. Morphology and surface roughness are investigated by Scanning Electron and Air Force Microscopy (SEM and AFM) respectively, crystal structure by X-Ray Diffraction measurements (XRD) and ZnO stoichiometry by core level photoemission spectroscopy (XPS)

Tantalum-oxide catalysed chemical vapour deposition of single- and multi-walled carbon nanotubes

Tantalum-oxide thin films are shown to catalyse single- and multi-walled carbon nanotube growth by chemical vapour deposition. A low film thickness, the nature of the support material (best results with SiO2) and an atmospheric process gas pressure are of key importance for successful nanotube nucleation. Strong material interactions, such as silicide formation, inhibit nanotube growth. In situ X-ray photoelectron spectroscopy indicates that no catalyst reduction to Ta-metal or Ta-carbide occurs during our nanotube growth conditions and that the catalytically active phase is the Ta-oxide phase. Such a reduction-free oxide catalyst can be technologically advantageous.S.H. acknowledges funding from the EPSRC (Grant No. EP/ H047565/1) and from ERC grant InsituNANO (project reference 279342). We acknowledge the Helmholtz-Zentrum-Berlin BESSY II synchrotron, and we thank the BESSY staff for continuous support. We acknowledge partial funding from the EC project Technotubes. C.D. acknowledges the Royal Society for funding and B.C.B. acknowledges a Research Fellowship from Hughes Hall, Cambridge.This is the final published version. It first appeared at http://pubs.rsc.org/en/Content/ArticleLanding/2013/RA/c3ra23304a#!divAbstract

On Measuring Non-Recursive Trade-Offs

We investigate the phenomenon of non-recursive trade-offs between descriptional systems in an abstract fashion. We aim at categorizing non-recursive trade-offs by bounds on their growth rate, and show how to deduce such bounds in general. We also identify criteria which, in the spirit of abstract language theory, allow us to deduce non-recursive tradeoffs from effective closure properties of language families on the one hand, and differences in the decidability status of basic decision problems on the other. We develop a qualitative classification of non-recursive trade-offs in order to obtain a better understanding of this very fundamental behaviour of descriptional systems

Chemical Bond and Charge Transfer Dynamics of a Dye-Hierarchical TiO2 Hybrid Interface

The adsorption of Zn-Tetra-Phenyl-Porphyrin (ZnTPP) on nanoporous hierarchically organized anatase TiO2 structures, and the properties of the corresponding hybrid interface were studied by synchrotron radiation experiments. The molecular structure, electronic properties and the bonding with nanostructured TiO2 surfaces were analyzed by photoemission (XPS and UPS) and x-ray absorption spectroscopy (XAS). The charge transfer at the interface was investigated by means of valence band resonant photoemission experiments (ResPES) at the C K edge. We show that the charge transfer dynamics between the photo-excited ZnTPP and TiO2 is strongly influenced by the presence of defects on the TiO2 surface. On a stoichiometric anatase nanostructure, ZnTPP bonding occurs primarily via carbon atoms belonging to the molecular phenyl rings and this creates a preferential channel for the charge transfer. This phenomenon is reduced in the case of defective TiO2 surface, where ZnTPP interacts mainly through the molecule macrocycle. Our results represent a surface science study of the dye molecule behavior on a nanoporous TiO2 photoanode relevant to dye-sensitized or hybrid solar cell applications and it shows the importance of the surface oxidation state for the charge transfer proces

Electronic structure and molecular orientation of a Zn-tetra-phenyl porphyrin multilayer on Si(111)

The electronic properties and the molecular orientation of Zn-tetraphenyl-porphyrin films deposited on Si(111) have been investigated using synchrotron radiation. For the first time we have revealed and assigned the fine structures in the electronic spectra related to the HOMOs and LUMOs states. This is particularly important in order to understand the orbital interactions, the bond formation and the evolution of the electronic properties with oxidation or reduction of the porphyrins in supramolecular donor-acceptor complexes used in photovoltaic devices.Comment: text 11 pages, 4 figures submitted for publicatio

One shoot seldinger central venous catheterization in dialyzed patients

Introduction: Central Venous Catheterization is necessary in uremic patient (before dialysis) and many other conditions. In this study we demonstrated the advantages of ultrasonography to perform the procedure. Materials and methods: 48 uremic patient were submitted to ultrasound-guided central venous catheterization. The procedure was performed following the Seldinger “one shot” technique. Results: The mean operative time was 4 minutes, with a high rate of success (100%) and a low percentage of complications (2%). Conclusion: The ultrasound-guided central venous catheterization is a safe procedure, rapid and easy to perform. The procedure has a low rate of failures and complications and a high rate of success. It is suitable in all patients with vascular anatomical variations, “difficult neck”, or coagulation disorders

Effect of multi-planar CT image reformatting on surgeon diagnostic performance for localizing thoracolumbar disc extrusions in dogs

Accurate pre-operative localization and removal of disc material are important for minimizing morbidity in dogs with thoracolumbar disc extrusions. Computed tomography (CT) is an established technique for localizing disc extrusions in dogs, however the effect of multi-planar reformatting (MPR) on surgeon diagnostic performance has not been previously described. The purpose of this study was to test the effect of MPR CT on surgeon diagnostic accuracy, certainty and agreement for localizing thoracolumbar disc extrusions in dogs. Two veterinary surgeons and one veterinary neurologist who were unaware of surgical findings independently reviewed randomized sets of two-dimensional (2D) and MPR CT images from 111 dogs with confirmed thoracolumbar disc extrusions. For each set of images, readers recorded their localizations for extruded disc material and their diagnostic certainty. For MPR images, readers also recorded views they considered most helpful. Diagnostic accuracy estimates, mean diagnostic certainty scores and inter-observer agreement were compared using surgery as the gold standard. Frequencies were compared for MPR views rated most helpful. Diagnostic accuracy estimates were significantly greater for MPR vs. 2D CT images in one reader. Mean diagnostic certainty scores were significantly greater for MPR images in two readers. The change in agreement between 2D and MPR images differed from zero for all analyses (site, side, number affected) among all three readers. Multi-planar views rated most helpful with the highest frequency were oblique transverse and curved dorsal planar MPR views. Findings from this study indicate that multi-planar CT can improve surgeon diagnostic performance for localizing canine thoracolumbar disc extrusions