Platform for Postprocessing Waveform-Based NDE

NASA Technical Reports Server (NTRS)

Roth, Don

2008-01-01

Taking advantage of the similarities that exist among all waveform-based non-destructive evaluation (NDE) methods, a common software platform has been developed containing multiple- signal and image-processing techniques for waveforms and images. The NASA NDE Signal and Image Processing software has been developed using the latest versions of LabVIEW, and its associated Advanced Signal Processing and Vision Toolkits. The software is useable on a PC with Windows XP and Windows Vista. The software has been designed with a commercial grade interface in which two main windows, Waveform Window and Image Window, are displayed if the user chooses a waveform file to display. Within these two main windows, most actions are chosen through logically conceived run-time menus. The Waveform Window has plots for both the raw time-domain waves and their frequency- domain transformations (fast Fourier transform and power spectral density). The Image Window shows the C-scan image formed from information of the time-domain waveform (such as peak amplitude) or its frequency-domain transformation at each scan location. The user also has the ability to open an image, or series of images, or a simple set of X-Y paired data set in text format. Each of the Waveform and Image Windows contains menus from which to perform many user actions. An option exists to use raw waves obtained directly from scan, or waves after deconvolution if system wave response is provided. Two types of deconvolution, time-based subtraction or inverse-filter, can be performed to arrive at a deconvolved wave set. Additionally, the menu on the Waveform Window allows preprocessing of waveforms prior to image formation, scaling and display of waveforms, formation of different types of images (including non-standard types such as velocity), gating of portions of waves prior to image formation, and several other miscellaneous and specialized operations. The menu available on the Image Window allows many further image processing and analysis operations, some of which are found in commercially-available image-processing software programs (such as Adobe Photoshop), and some that are not (removing outliers, Bscan information, region-of-interest analysis, line profiles, and precision feature measurements).

ENVIRONMENTAL TECHNOLOGY VERIFICATION OF URBAN RUNOFF MODELS

EPA Science Inventory

This paper will present the verification process and available results of the XP-SWMM modeling system produced by XP-Software conducted unde the USEPA's ETV Program. Wet weather flow (WWF) models are used throughout the US for the evaluation of storm and combined sewer systems. M...

Forty years of research on xeroderma pigmentosum at the US National Institutes of Health.

PubMed

Kraemer, Kenneth H; DiGiovanna, John J

2015-01-01

In 1968, Dr. James Cleaver reported defective DNA repair in cultured cells from patients with xeroderma pigmentosum. This link between clinical disease and molecular pathophysiology has sparked interest in understanding not only the clinical characteristics of sun sensitivity, damage and cancer that occurred in XP patients but also the mechanisms underlying the damage and repair. While affected patients are rare, their exaggerated UV damage provides a window into the workings of DNA repair. These studies have clarified the importance of a functioning DNA repair system to the maintenance of skin and neurologic health in the general population. Understanding the role of damage in causing cancer, neurologic degeneration, hearing loss and internal cancers provides an opportunity for prevention and treatment. Characterizing complementation groups pointed to the importance of different underlying genes. Studying differences in cancer age of onset and underlying molecular signatures in cancers occurring either in XP patients or the general population has led to insights into differences in carcinogenic mechanisms. The accelerated development of cancers in XP has been used as a model to discover new cancer chemopreventive agents. An astute insight can be a "tipping point" triggering decades of productive inquiry. © 2015 The American Society of Photobiology.

Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health†

PubMed Central

Kraemer, Kenneth H.; DiGiovanna, John J.

2014-01-01

In 1968, Dr. James Cleaver reported defective DNA repair in cultured cells from patients with xeroderma pigmentosum. This link between clinical disease and molecular pathophysiology has sparked interest in understanding not only the clinical characteristics of sun sensitivity, damage and cancer that occurred in XP patients but also the mechanisms underlying the damage and repair. While affected patients are rare, their exaggerated UV damage provides a window into the workings of DNA repair. These studies have clarified the importance of a functioning DNA repair system to the maintenance of skin and neurologic health in the general population. Understanding the role of damage in causing cancer, neurologic degeneration, hearing loss and internal cancers provides an opportunity for prevention and treatment. Characterizing complementation groups pointed to the importance of different underlying genes. Studying differences in cancer age of onset and underlying molecular signatures in cancers occurring either in XP patients or the general population has led to insights into differences in carcinogenic mechanisms. The accelerated development of cancers in XP has been used as a model to discover new cancer chemopreventive agents. An astute insight can be a “tipping point” triggering decades of productive inquiry. PMID:25220021

TweezPal - Optical tweezers analysis and calibration software

NASA Astrophysics Data System (ADS)

Osterman, Natan

2010-11-01

Optical tweezers, a powerful tool for optical trapping, micromanipulation and force transduction, have in recent years become a standard technique commonly used in many research laboratories and university courses. Knowledge about the optical force acting on a trapped object can be gained only after a calibration procedure which has to be performed (by an expert) for each type of trapped objects. In this paper we present TweezPal, a user-friendly, standalone Windows software tool for optical tweezers analysis and calibration. Using TweezPal, the procedure can be performed in a matter of minutes even by non-expert users. The calibration is based on the Brownian motion of a particle trapped in a stationary optical trap, which is being monitored using video or photodiode detection. The particle trajectory is imported into the software which instantly calculates position histogram, trapping potential, stiffness and anisotropy. Program summaryProgram title: TweezPal Catalogue identifier: AEGR_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEGR_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 44 891 No. of bytes in distributed program, including test data, etc.: 792 653 Distribution format: tar.gz Programming language: Borland Delphi Computer: Any PC running Microsoft Windows Operating system: Windows 95, 98, 2000, XP, Vista, 7 RAM: 12 Mbytes Classification: 3, 4.14, 18, 23 Nature of problem: Quick, robust and user-friendly calibration and analysis of optical tweezers. The optical trap is calibrated from the trajectory of a trapped particle undergoing Brownian motion in a stationary optical trap (input data) using two methods. Solution method: Elimination of the experimental drift in position data. Direct calculation of the trap stiffness from the positional variance. Calculation of 1D optical trapping potential from the positional distribution of data points. Trap stiffness calculation by fitting a parabola to the trapping potential. Presentation of X-Y positional density for close inspection of the 2D trapping potential. Calculation of the trap anisotropy. Running time: Seconds

Simulating a Direction-Finder Search for an ELT

NASA Technical Reports Server (NTRS)

Bream, Bruce

2005-01-01

A computer program simulates the operation of direction-finding equipment engaged in a search for an emergency locator transmitter (ELT) aboard an aircraft that has crashed. The simulated equipment is patterned after the equipment used by the Civil Air Patrol to search for missing aircraft. The program is designed to be used for training in radio direction-finding and/or searching for missing aircraft without incurring the expense and risk of using real aircraft and ground search resources. The program places a hidden ELT on a map and enables the user to search for the location of the ELT by moving a 14 NASA Tech Briefs, March 2005 small aircraft image around the map while observing signal-strength and direction readings on a simulated direction- finding locator instrument. As the simulated aircraft is turned and moved on the map, the program updates the readings on the direction-finding instrument to reflect the current position and heading of the aircraft relative to the location of the ELT. The software is distributed in a zip file that contains an installation program. The software runs on the Microsoft Windows 9x, NT, and XP operating systems.

Source Code Analysis Laboratory (SCALe)

DTIC Science & Technology

2012-04-01

Versus Flagged Nonconformities (FNC) Software System TP/FNC Ratio Mozilla Firefox version 2.0 6/12 50% Linux kernel version 2.6.15 10/126 8...is inappropriately tuned for analysis of the Linux kernel, which has anomalous results. Customizing SCALe to work with software for a particular...servers support a collection of virtual machines (VMs) that can be configured to support analysis in various environments, such as Windows XP and Linux . A

The Multi-Attribute Task Battery II (MATB-II) Software for Human Performance and Workload Research: A User's Guide

NASA Technical Reports Server (NTRS)

Santiago-Espada, Yamira; Myer, Robert R.; Latorella, Kara A.; Comstock, James R., Jr.

2011-01-01

The Multi-Attribute Task Battery (MAT Battery). is a computer-based task designed to evaluate operator performance and workload, has been redeveloped to operate in Windows XP Service Pack 3, Windows Vista and Windows 7 operating systems.MATB-II includes essentially the same tasks as the original MAT Battery, plus new configuration options including a graphical user interface for controlling modes of operation. MATB-II can be executed either in training or testing mode, as defined by the MATB-II configuration file. The configuration file also allows set up of the default timeouts for the tasks, the flow rates of the pumps and tank levels of the Resource Management (RESMAN) task. MATB-II comes with a default event file that an experimenter can modify and adapt

LevelScheme: A level scheme drawing and scientific figure preparation system for Mathematica

NASA Astrophysics Data System (ADS)

Caprio, M. A.

2005-09-01

LevelScheme is a scientific figure preparation system for Mathematica. The main emphasis is upon the construction of level schemes, or level energy diagrams, as used in nuclear, atomic, molecular, and hadronic physics. LevelScheme also provides a general infrastructure for the preparation of publication-quality figures, including support for multipanel and inset plotting, customizable tick mark generation, and various drawing and labeling tasks. Coupled with Mathematica's plotting functions and powerful programming language, LevelScheme provides a flexible system for the creation of figures combining diagrams, mathematical plots, and data plots. Program summaryTitle of program:LevelScheme Catalogue identifier:ADVZ Program obtainable from: CPC Program Library, Queen's University of Belfast, N. Ireland Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADVZ Operating systems:Any which supports Mathematica; tested under Microsoft Windows XP, Macintosh OS X, and Linux Programming language used:Mathematica 4 Number of bytes in distributed program, including test and documentation:3 051 807 Distribution format:tar.gz Nature of problem:Creation of level scheme diagrams. Creation of publication-quality multipart figures incorporating diagrams and plots. Method of solution:A set of Mathematica packages has been developed, providing a library of level scheme drawing objects, tools for figure construction and labeling, and control code for producing the graphics.

Program Merges SAR Data on Terrain and Vegetation Heights

NASA Technical Reports Server (NTRS)

Siqueira, Paul; Hensley, Scott; Rodriguez, Ernesto; Simard, Marc

2007-01-01

X/P Merge is a computer program that estimates ground-surface elevations and vegetation heights from multiple sets of data acquired by the GeoSAR instrument [a terrain-mapping synthetic-aperture radar (SAR) system that operates in the X and bands]. X/P Merge software combines data from X- and P-band digital elevation models, SAR backscatter magnitudes, and interferometric correlation magnitudes into a simplified set of output topographical maps of ground-surface elevation and tree height.

EPICS SCA CLIENTS ON THE .NET X64 PLATFORM

DOE Office of Scientific and Technical Information (OSTI.GOV)

Timossi, Chris; Nishimura, Hiroshi

2006-10-19

We have developed a .NET assembly, which we call SCA.NET,which we have been using for building EPICS based control roomapplications at the Advanced Light Source (ALS). In this paper we reporton our experiences building a 64-bit version of SCA.NET and theunderlying channel access libraries for Windows XP x64 (using a dual coreAMD Athlon CPU). We also report on our progress in building newaccelerator control applications for this environment.

Video-Game-Like Engine for Depicting Spacecraft Trajectories

NASA Technical Reports Server (NTRS)

Upchurch, Paul R.

2009-01-01

GoView is a video-game-like software engine, written in the C and C++ computing languages, that enables real-time, three-dimensional (3D)-appearing visual representation of spacecraft and trajectories (1) from any perspective; (2) at any spatial scale from spacecraft to Solar-system dimensions; (3) in user-selectable time scales; (4) in the past, present, and/or future; (5) with varying speeds; and (6) forward or backward in time. GoView constructs an interactive 3D world by use of spacecraft-mission data from pre-existing engineering software tools. GoView can also be used to produce distributable application programs for depicting NASA orbital missions on personal computers running the Windows XP, Mac OsX, and Linux operating systems. GoView enables seamless rendering of Cartesian coordinate spaces with programmable graphics hardware, whereas prior programs for depicting spacecraft trajectories variously require non-Cartesian coordinates and/or are not compatible with programmable hardware. GoView incorporates an algorithm for nonlinear interpolation between arbitrary reference frames, whereas the prior programs are restricted to special classes of inertial and non-inertial reference frames. Finally, whereas the prior programs present complex user interfaces requiring hours of training, the GoView interface provides guidance, enabling use without any training.

Progress on China nuclear data processing code system

NASA Astrophysics Data System (ADS)

Liu, Ping; Wu, Xiaofei; Ge, Zhigang; Li, Songyang; Wu, Haicheng; Wen, Lili; Wang, Wenming; Zhang, Huanyu

2017-09-01

China is developing the nuclear data processing code Ruler, which can be used for producing multi-group cross sections and related quantities from evaluated nuclear data in the ENDF format [1]. The Ruler includes modules for reconstructing cross sections in all energy range, generating Doppler-broadened cross sections for given temperature, producing effective self-shielded cross sections in unresolved energy range, calculating scattering cross sections in thermal energy range, generating group cross sections and matrices, preparing WIMS-D format data files for the reactor physics code WIMS-D [2]. Programming language of the Ruler is Fortran-90. The Ruler is tested for 32-bit computers with Windows-XP and Linux operating systems. The verification of Ruler has been performed by comparison with calculation results obtained by the NJOY99 [3] processing code. The validation of Ruler has been performed by using WIMSD5B code.

A Librarian Without Books:Systems Librarianship in Astronomy

NASA Astrophysics Data System (ADS)

Kneale, R. A.

2007-10-01

The author discusses one aspect of the changing nature of librarianship by focusing on a high-tech microcosm of an already high-tech profession, that of systems librarianship. She is the Systems Librarian for the Advanced Technology Solar Telescope (ATST) project, based in Tucson, Arizona. The project is engaged in the design and development of a 4-meter solar telescope, planned for the summit of Haleakalā, Maui, Hawai'i. Most of the day-to-day tasks at ATST involve software in one form or another; the author makes heavy use of Remote Desktop and Virtual Network Computing (VNC) to manage installations on eight different servers (four Windows, four Unix) in two states, plus staff desktops (Windows XP) from the comfy chair in front of her computer.

Scilab software package for the study of dynamical systems

NASA Astrophysics Data System (ADS)

Bordeianu, C. C.; Beşliu, C.; Jipa, Al.; Felea, D.; Grossu, I. V.

2008-05-01

This work presents a new software package for the study of chaotic flows and maps. The codes were written using Scilab, a software package for numerical computations providing a powerful open computing environment for engineering and scientific applications. It was found that Scilab provides various functions for ordinary differential equation solving, Fast Fourier Transform, autocorrelation, and excellent 2D and 3D graphical capabilities. The chaotic behaviors of the nonlinear dynamics systems were analyzed using phase-space maps, autocorrelation functions, power spectra, Lyapunov exponents and Kolmogorov-Sinai entropy. Various well known examples are implemented, with the capability of the users inserting their own ODE. Program summaryProgram title: Chaos Catalogue identifier: AEAP_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEAP_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 885 No. of bytes in distributed program, including test data, etc.: 5925 Distribution format: tar.gz Programming language: Scilab 3.1.1 Computer: PC-compatible running Scilab on MS Windows or Linux Operating system: Windows XP, Linux RAM: below 100 Megabytes Classification: 6.2 Nature of problem: Any physical model containing linear or nonlinear ordinary differential equations (ODE). Solution method: Numerical solving of ordinary differential equations. The chaotic behavior of the nonlinear dynamical system is analyzed using Poincaré sections, phase-space maps, autocorrelation functions, power spectra, Lyapunov exponents and Kolmogorov-Sinai entropies. Restrictions: The package routines are normally able to handle ODE systems of high orders (up to order twelve and possibly higher), depending on the nature of the problem. Running time: 10 to 20 seconds for problems that do not involve Lyapunov exponents calculation; 60 to 1000 seconds for problems that involve high orders ODE and Lyapunov exponents calculation.

Generation of non-genomic oligonucleotide tag sequences for RNA template-specific PCR

PubMed Central

Pinto, Fernando Lopes; Svensson, Håkan; Lindblad, Peter

2006-01-01

Background In order to overcome genomic DNA contamination in transcriptional studies, reverse template-specific polymerase chain reaction, a modification of reverse transcriptase polymerase chain reaction, is used. The possibility of using tags whose sequences are not found in the genome further improves reverse specific polymerase chain reaction experiments. Given the absence of software available to produce genome suitable tags, a simple tool to fulfill such need was developed. Results The program was developed in Perl, with separate use of the basic local alignment search tool, making the tool platform independent (known to run on Windows XP and Linux). In order to test the performance of the generated tags, several molecular experiments were performed. The results show that Tagenerator is capable of generating tags with good priming properties, which will deliberately not result in PCR amplification of genomic DNA. Conclusion The program Tagenerator is capable of generating tag sequences that combine genome absence with good priming properties for RT-PCR based experiments, circumventing the effects of genomic DNA contamination in an RNA sample. PMID:16820068

A Survey of Mobile and Wireless Technologies for Augmented Reality Systems (Preprint)

DTIC Science & Technology

2008-02-01

Windows XP. A number of researchers have started employing them in AR simulations such as Wagner et al [25], Newman et al [46] and specifically the Sony ...different music clubs and styles of music according to the selection and tastes of the listeners. In the intro sequence the user can select an animated...3-D character (avatar) as his or her virtual persona and visit the different music rooms in the virtual disco. Users can download or stream music in

Decision & Management Tools for DNAPL Sites: Optimization of Chlorinated Solvent Source and Plume Remediation Considering Uncertainty

DTIC Science & Technology

2010-09-01

differentiated between source codes and input/output files. The text makes references to a REMChlor-GoldSim model. The text also refers to the REMChlor...To the extent possible, the instructions should be accurate and precise. The documentation should differentiate between describing what is actually...Windows XP operating system Model Input Paran1eters. · n1e input parameters were identical to those utilized and reported by CDM (See Table .I .from

Development of a Low-Latency, High Data Rate, Differential GPS Relative Positioning System for UAV Formation Flight Control

DTIC Science & Technology

2006-09-01

spiral development cycle involved transporting the software processes from a Windows XP / MATLAB environment to a Linux / C++ environment. This...tested on. Additionally, in the case of the GUMSTIX PC boards, the LINUX operating system is burned into the read-only memory. Lastly, both PC-104 and...both the real-time environment and the post-processed en - vironment. When the system operates in real-time mode, an output file is generated which

The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D)

PubMed Central

2013-01-01

Background To investigate the association of DNA nucleotide excision repair (NER) defects with neurological degeneration, cachexia and cancer, we performed autopsies on 4 adult xeroderma pigmentosum (XP) patients with different clinical features and defects in NER complementation groups XP-A, XP-C or XP-D. Results The XP-A (XP12BE) and XP-D (XP18BE) patients exhibited progressive neurological deterioration with sensorineural hearing loss. The clinical spectrum encompassed severe cachexia in the XP-A (XP12BE) patient, numerous skin cancers in the XP-A and two XP-C (XP24BE and XP1BE) patients and only few skin cancers in the XP-D patient. Two XP-C patients developed internal neoplasms including glioblastoma in XP24BE and uterine adenocarcinoma in XP1BE. At autopsy, the brains of the 44 yr XP-A and the 45 yr XP-D patients were profoundly atrophic and characterized microscopically by diffuse neuronal loss, myelin pallor and gliosis. Unlike the XP-A patient, the XP-D patient had a thickened calvarium, and the brain showed vacuolization of the neuropil in the cerebrum, cerebellum and brainstem, and patchy Purkinje cell loss. Axonal neuropathy and chronic denervation atrophy of the skeletal muscles were observed in the XP-A patient, but not in the XP-D patient. Conclusions These clinical manifestations and autopsy findings indicate advanced involvement of the central and peripheral nervous system. Despite similar defects in DNA repair, different clinicopathological phenotypes are seen in the four cases, and therefore distinct patterns of neurodegeneration characterize XP-D, XP-A and XP-C patients. PMID:24252196

Version 3.0 of EMINERS - Economic Mineral Resource Simulator

USGS Publications Warehouse

Duval, Joseph S.

2012-01-01

Quantitative mineral resource assessment, as developed by the U.S. Geological Survey (USGS), consists of three parts: (1) development of grade and tonnage mineral deposit models; (2) delineation of tracts permissive for each deposit type; and (3) probabilistic estimation of the numbers of undiscovered deposits for each deposit type. The estimate of the number of undiscovered deposits at different levels of probability is the input to the EMINERS (Economic Mineral Resource Simulator) program. EMINERS uses a Monte Carlo statistical process to combine probabilistic estimates of undiscovered mineral deposits with models of mineral deposit grade and tonnage to estimate mineral resources. Version 3.0 of the EMINERS program is available as this USGS Open-File Report 2004-1344. Changes from version 2.0 include updating 87 grade and tonnage models, designing new templates to produce graphs showing cumulative distribution and summary tables, and disabling economic filters. The economic filters were disabled because embedded data for costs of labor and materials, mining techniques, and beneficiation methods are out of date. However, the cost algorithms used in the disabled economic filters are still in the program and available for reference for mining methods and milling techniques. The release notes included with this report give more details on changes in EMINERS over the years. EMINERS is written in C++ and depends upon the Microsoft Visual C++ 6.0 programming environment. The code depends heavily on the use of Microsoft Foundation Classes (MFC) for implementation of the Windows interface. The program works only on Microsoft Windows XP or newer personal computers. It does not work on Macintosh computers. For help in using the program in this report, see the "Quick-Start Guide for Version 3.0 of EMINERS-Economic Mineral Resource Simulator" (W.J. Bawiec and G.T. Spanski, 2012, USGS Open-File Report 2009-1057, linked at right). It demonstrates how to execute EMINERS software using default settings and existing deposit models.

PD-L1 expression in Xp11.2 translocation renal cell carcinoma: Indicator of tumor aggressiveness.

PubMed

Chang, Kun; Qu, Yuanyuan; Dai, Bo; Zhao, Jian-Yuan; Gan, Hualei; Shi, Guohai; Zhu, Yiping; Shen, Yijun; Zhu, Yao; Zhang, Hailiang; Ye, Dingwei

2017-05-18

Programmed death ligand-1 (PD-L1), a promising antitumor target, has proven clinical value against many malignancies. However, the PD-L1 content of Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) and its correlation with clinical outcomes remain unclear. This study aimed to investigate PD-L1 expression in Xp11.2 RCC and to assess its prognostic value. Formalin-fixed paraffin-embedded specimens from 36 adult patients that were histologically confirmed (by fluorescence in situ hybridization) were subjected to immunohistochemical analysis. Of the 36 Xp11.2 RCC patients, 9 (25.0%) had tumors with positive PD-L1 expression and 27 (75.0%) had tumors with negative PD-L1 expression. Positive PD-L1 expression correlated with advanced tumor stage (P = 0.001), regional lymph node metastasis (P < 0.001), and distant metastasis (P < 0.001). A multivariate analysis identified positive PD-L1 expression was an independent adverse prognostic factor for both progression free survival (hazard ratio: 3.7, P = 0.018) and overall survival (hazard ratio: 4.5, P = 0.034). The median PFS and OS for the whole cohort were 13.0 months (95% confidence interval [CI], 9.4-16.6 months) and 36.0 months (95% CI, 23.9-48.1 months), respectively. Our findings suggest that positive PD-L1 expression is indicative of worse clinical outcome in Xp11.2 RCC. Further studies are needed to explore the potential efficacy of targeting PD-L1 in Xp11.2 RCC.

Dendroscope: An interactive viewer for large phylogenetic trees

PubMed Central

Huson, Daniel H; Richter, Daniel C; Rausch, Christian; Dezulian, Tobias; Franz, Markus; Rupp, Regula

2007-01-01

Background Research in evolution requires software for visualizing and editing phylogenetic trees, for increasingly very large datasets, such as arise in expression analysis or metagenomics, for example. It would be desirable to have a program that provides these services in an effcient and user-friendly way, and that can be easily installed and run on all major operating systems. Although a large number of tree visualization tools are freely available, some as a part of more comprehensive analysis packages, all have drawbacks in one or more domains. They either lack some of the standard tree visualization techniques or basic graphics and editing features, or they are restricted to small trees containing only tens of thousands of taxa. Moreover, many programs are diffcult to install or are not available for all common operating systems. Results We have developed a new program, Dendroscope, for the interactive visualization and navigation of phylogenetic trees. The program provides all standard tree visualizations and is optimized to run interactively on trees containing hundreds of thousands of taxa. The program provides tree editing and graphics export capabilities. To support the inspection of large trees, Dendroscope offers a magnification tool. The software is written in Java 1.4 and installers are provided for Linux/Unix, MacOS X and Windows XP. Conclusion Dendroscope is a user-friendly program for visualizing and navigating phylogenetic trees, for both small and large datasets. PMID:18034891

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.

PubMed

Sethi, M; Lehmann, A R; Fawcett, H; Stefanini, M; Jaspers, N; Mullard, K; Turner, S; Robson, A; McGibbon, D; Sarkany, R; Fassihi, H

2013-12-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair. It is divided into eight complementation groups: XP-A to XP-G (classical XP) and XP variant (XP-V). Severe and prolonged sunburn reactions on minimal sun exposure have been considered a cardinal feature of classical XP. However, it has recently become clear that not all patients have abnormal sunburn reactions. To examine sunburn reactions in a cohort of patients with XP and correlate this to the complementation group. Sixty patients with XP attending the U.K. National XP Service from 2010 to 2012 were studied. Their history of burning after minimal sun exposure was assessed using a newly developed sunburn severity score. The age at which the first skin cancer was histologically diagnosed in each patient, and the presence of any neurological abnormality, was also recorded. Sunburn severity scores were abnormally high in patients with XP-A, XP-D, XP-F and XP-G compared with non-XP controls. There was no significant difference in sunburn score of patients with XP-C, XP-E and XP-V compared with controls (P > 0·05). Patients with XP-C, XP-E and XP-V were more likely to have skin cancer diagnosed at an earlier age than those with severe sunburn on minimal sun exposure. In addition, patients with XP with severe sunburn had an increased frequency of neurological abnormalities. Not all patients with XP have a history of severe and prolonged sunburn on minimal sun exposure. The normal sunburn response of patients with XP-C, XP-E and XP-V may relate to the preservation of transcription-coupled DNA repair in these groups. Those with a history of severe sunburn on minimal sun exposure developed their first skin cancer at an older age compared with patients with XP-C, XP-E and XP-V, but they had an increased frequency of neurological abnormalities. Physicians need to be aware that about half of all patients with XP will present without a history of abnormal sunburn. © 2013 British Association of Dermatologists.

Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.

PubMed

Zhou, Eray Yihui; Wang, Huijun; Lin, Zhimiao; Xu, Guiwen; Ma, Zhihong; Zhao, Jiahui; Feng, Cheng; Duo, Lina; Yin, Jinghua; Yang, Yong

2017-01-01

Xeroderma pigmentosum (XP) is a rare genetic disorder which is divided into eight complementation groups: XP-A to XP-G and XP-V. Some XP patients demonstrate severe cutaneous and neurological manifestations, management of which requires timely diagnosis and intervention. We performed clinical evaluation and genetic analysis on 19 patients, the largest cohort of XP to date in China. Twenty-three mutations from six groups were identified, 16 of which were novel. All patients developed marked freckle-like pigmentation on sun-exposed sites while patients with XP-A, XP-D, XP-F and XP-G showed acute sunburn reactions. Only XP-A patients displayed progressive neurological degeneration. A relatively larger proportion of XP-A and XP-C were found in Chinese XP patients. One XP case and two carriers were prenatally determined. This study extended the mutation spectrum of XP in China and may aid in the diagnosis and treatment of Chinese XP patients. © 2016 Japanese Dermatological Association.

Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.

PubMed

Zhang, Jia; Cheng, Ruhong; Yu, Xia; Sun, Zhonghui; Li, Ming; Yao, Zhirong

2017-01-01

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by exaggerated sunburn reactions, freckle-like pigmentation, and a high possibility of developing cutaneous tumors. XP comprised seven complementation groups (from XP-A to XP-G) and a variant form XP-V. This study was based on five unrelated Chinese families with six patients clinically suspected to be XP. Mutation screening was performed by direct sequencing of the entire coding region of eight XP genes. All of the pathogenic mutations were identified by mutational analysis, including four novel mutations. Our study successfully identified the pathogenic mutations in six XP patients (three XP-A, one XP-G, one XP-V, and a rare XP-D group in Chinese population). We reviewed the reported XP cases with mutations in the Chinese population and concluded that four complementation groups (XP-A, XP-C, XP-G, and XP-V) that occupy the major proportion should be considered as a first step in genetic detection (especially, XPA is the most common group, and unlike in other populations, XP-G is not rare in the Chinese population). Moreover, XP-D and XP-F, two rare subgroups, should also be added for further mutational analysis. Further, we provide some information for Chinese dermatologists that, when an early diagnosis is made, XP-C and XP-V patients can have relatively good prognoses. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PathwayAccess: CellDesigner plugins for pathway databases.

PubMed

Van Hemert, John L; Dickerson, Julie A

2010-09-15

CellDesigner provides a user-friendly interface for graphical biochemical pathway description. Many pathway databases are not directly exportable to CellDesigner models. PathwayAccess is an extensible suite of CellDesigner plugins, which connect CellDesigner directly to pathway databases using respective Java application programming interfaces. The process is streamlined for creating new PathwayAccess plugins for specific pathway databases. Three PathwayAccess plugins, MetNetAccess, BioCycAccess and ReactomeAccess, directly connect CellDesigner to the pathway databases MetNetDB, BioCyc and Reactome. PathwayAccess plugins enable CellDesigner users to expose pathway data to analytical CellDesigner functions, curate their pathway databases and visually integrate pathway data from different databases using standard Systems Biology Markup Language and Systems Biology Graphical Notation. Implemented in Java, PathwayAccess plugins run with CellDesigner version 4.0.1 and were tested on Ubuntu Linux, Windows XP and 7, and MacOSX. Source code, binaries, documentation and video walkthroughs are freely available at http://vrac.iastate.edu/~jlv.

Examining the Effect of Organizational Roles in Shaping Network Traffic Activity

DTIC Science & Technology

2012-08-01

absolute value, and are presented in Table 3. Role Correlation Feature Admin 0.3004 bpp 0.2845 portsPerFlow 0.2063 addrDist -0.1869...OS Correlation Feature XP 0.4783 notTcpUdp 0.2867 addrDist -0.2389 bpp 0.1933 protocol -0.1852 flowInt Windows 7 0.3884 portDist 0.2367...addrDist 0.2001 direction 0.1751 bpp 0.1653 portsPerFlow Mac -0.2376 notTcpUdp 0.1978 UDP 0.1885 duration -0.1783 addrDist -0.1736 countEmpties

TIMESERIESSTREAMING.VI: LabVIEW program for reliable data streaming of large analog time series

NASA Astrophysics Data System (ADS)

Czerwinski, Fabian; Oddershede, Lene B.

2011-02-01

With modern data acquisition devices that work fast and very precise, scientists often face the task of dealing with huge amounts of data. These need to be rapidly processed and stored onto a hard disk. We present a LabVIEW program which reliably streams analog time series of MHz sampling. Its run time has virtually no limitation. We explicitly show how to use the program to extract time series from two experiments: For a photodiode detection system that tracks the position of an optically trapped particle and for a measurement of ionic current through a glass capillary. The program is easy to use and versatile as the input can be any type of analog signal. Also, the data streaming software is simple, highly reliable, and can be easily customized to include, e.g., real-time power spectral analysis and Allan variance noise quantification. Program summaryProgram title: TimeSeriesStreaming.VI Catalogue identifier: AEHT_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEHT_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 250 No. of bytes in distributed program, including test data, etc.: 63 259 Distribution format: tar.gz Programming language: LabVIEW ( http://www.ni.com/labview/) Computer: Any machine running LabVIEW 8.6 or higher Operating system: Windows XP and Windows 7 RAM: 60-360 Mbyte Classification: 3 Nature of problem: For numerous scientific and engineering applications, it is highly desirable to have an efficient, reliable, and flexible program to perform data streaming of time series sampled with high frequencies and possibly for long time intervals. This type of data acquisition often produces very large amounts of data not easily streamed onto a computer hard disk using standard methods. Solution method: This LabVIEW program is developed to directly stream any kind of time series onto a hard disk. Due to optimized timing and usage of computational resources, such as multicores and protocols for memory usage, this program provides extremely reliable data acquisition. In particular, the program is optimized to deal with large amounts of data, e.g., taken with high sampling frequencies and over long time intervals. The program can be easily customized for time series analyses. Restrictions: Only tested in Windows-operating LabVIEW environments, must use TDMS format, acquisition cards must be LabVIEW compatible, driver DAQmx installed. Running time: As desirable: microseconds to hours

Xeroderma pigmentosum-Cockayne syndrome complex.

PubMed

Natale, Valerie; Raquer, Hayley

2017-04-04

Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP and in Cockayne syndrome without XP to aid management of XP-CS.Extensive searches of the literature identified 43 XP-CS patients. The diagnosis had been confirmed with molecular or biochemical methods in 42 of them. Clinical features of each patient were summarized in spreadsheets and summary statistics were generated from this data. XP patients are classified into complementation groups according to the gene that is mutated. There are four groups in XP-CS, and classification was available for 42 patients. Twenty-one were in the XP-G complementation group, 13 in XP-D, 5 in XP-B, and 3 in XP-F. Overall, the clinical features of XP-CS are very similar to those of CS without XP, with the exception of skin cancers in XP-CS. However, one intriguing finding was that cancer incidence was lower in XP-CS compared to XP alone or XP-neurological disorder. The cancer rate in XP-CS was higher than in CS without XP, an unsurprising finding. There is preliminary evidence for the existence of severity groups in XP-CS, as is the case in CS.Although health problems in XP-CS vary both in severity and in when they the first occur, there was overall homogeneity between all complementation groups and putative severity groups. Severely affected patients met fewer milestones and died at younger ages compared to more mildly affected patients.

Series quartz crystal sensor for remote bacteria population monitoring in raw milk via the Internet.

PubMed

Chang, Ku-Shang; Jang, Hung-Der; Lee, Ching-Fu; Lee, Yuan-Guey; Yuan, Chiun-Jye; Lee, Sheng-Hsien

2006-02-15

A remote monitoring system based on a piezoelectric quartz crystal (SPQC) sensor was developed for the determination of the bacteria population in raw milk. The system employs the Windows XP server operating system, and its programs for data acquisition, display and transmission were developed using the LabVIEW 7.1 programming language. The circuit design consists of a circuit with a piezoelectric quartz crystal (SPQC) and a pair of electrodes. This system can provide dynamic data monitoring on a web-page via the Internet. Immersion of the electrodes in a cell culture with bacteria inoculums resulted in a change of frequency caused by the impedance change due to microbial metabolism and the adherence of bacteria on the surface of the electrodes. The calibration curve of detection times against density of bacteria showed a linear correlation coefficient (R(2) = 0.9165) over the range of 70-10(6) CFU ml(-1). The sensor could acquire sufficient data rapidly (within 4 h) and thus enabled real-time monitoring of bacteria growth via the Internet. This system has potential application in the detection of bacteria concentration of milk at dairy farms.

NearFar: A computer program for nearside farside decomposition of heavy-ion elastic scattering amplitude

NASA Astrophysics Data System (ADS)

Cha, Moon Hoe

2007-02-01

The NearFar program is a package for carrying out an interactive nearside-farside decomposition of heavy-ion elastic scattering amplitude. The program is implemented in Java to perform numerical operations on the nearside and farside angular distributions. It contains a graphical display interface for the numerical results. A test run has been applied to the elastic O16+Si28 scattering at E=1503 MeV. Program summaryTitle of program: NearFar Catalogue identifier: ADYP_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADYP_v1_0 Program obtainable from: CPC Program Library, Queen's University of Belfast, N. Ireland Licensing provisions: none Computers: designed for any machine capable of running Java, developed on PC-Pentium-4 Operating systems under which the program has been tested: Microsoft Windows XP (Home Edition) Program language used: Java Number of bits in a word: 64 Memory required to execute with typical data: case dependent No. of lines in distributed program, including test data, etc.: 3484 Number of bytes distributed program, including test data, etc.: 142 051 Distribution format: tar.gz Other software required: A Java runtime interpreter, or the Java Development Kit, version 5.0 Nature of physical problem: Interactive nearside-farside decomposition of heavy-ion elastic scattering amplitude. Method of solution: The user must supply a external data file or PPSM parameters which calculates theoretical values of the quantities to be decomposed. Typical running time: Problem dependent. In a test run, it is about 35 s on a 2.40 GHz Intel P4-processor machine.

Analysis of Parent-of-Origin Effects on the X Chromosome in Asian and European Orofacial Cleft Triads Identifies Associations with DMD, FGF13, EGFL6, and Additional Loci at Xp22.2.

PubMed

Skare, Øivind; Lie, Rolv T; Haaland, Øystein A; Gjerdevik, Miriam; Romanowska, Julia; Gjessing, Håkon K; Jugessur, Astanand

2018-01-01

Background: Although both the mother's and father's alleles are present in the offspring, they may not operate at the same level. These parent-of-origin (PoO) effects have not yet been explored on the X chromosome, which motivated us to develop new methods for detecting such effects. Orofacial clefts (OFCs) exhibit sex-specific differences in prevalence and are examples of traits where a search for various types of effects on the X chromosome might be relevant. Materials and Methods: We upgraded our R-package Haplin to enable genome-wide analyses of PoO effects, as well as power simulations for different statistical models. 14,486 X-chromosome SNPs in 1,291 Asian and 1,118 European case-parent triads of isolated OFCs were available from a previous GWAS. For each ethnicity, cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) were analyzed separately using two X-inactivation models and a sliding-window approach to haplotype analysis. In addition, we performed analyses restricted to female offspring. Results: Associations were identified in "Dystrophin" ( DMD , Xp21.2-p21.1), "Fibroblast growth factor 13" ( FGF13 , Xq26.3-q27.1) and "EGF-like domain multiple 6" ( EGFL6 , Xp22.2), with biologically plausible links to OFCs. Unlike EGFL6 , the other associations on chromosomal region Xp22.2 had no apparent connections to OFCs. However, the Xp22.2 region itself is of potential interest because it contains genes for clefting syndromes [for example, "Oral-facial-digital syndrome 1" ( OFD1 ) and "Midline 1" ( MID1 )]. Overall, the identified associations were highly specific for ethnicity, cleft subtype and X-inactivation model, except for DMD in which associations were identified in both CPO and CL/P, in the model with X-inactivation and in Europeans only. Discussion/Conclusion: The specificity of the associations for ethnicity, cleft subtype and X-inactivation model underscores the utility of conducting subanalyses, despite the ensuing need to adjust for additional multiple testing. Further investigations are needed to confirm the associations with DMD, EGF16 , and FGF13 . Furthermore, chromosomal region Xp22.2 appears to be a hotspot for genes implicated in clefting syndromes and thus constitutes an exciting direction to pursue in future OFCs research. More generally, the new methods presented here are readily adaptable to the study of X-linked PoO effects in other outcomes that use a family-based design.

Line-by-line spectroscopic simulations on graphics processing units

NASA Astrophysics Data System (ADS)

Collange, Sylvain; Daumas, Marc; Defour, David

2008-01-01

We report here on software that performs line-by-line spectroscopic simulations on gases. Elaborate models (such as narrow band and correlated-K) are accurate and efficient for bands where various components are not simultaneously and significantly active. Line-by-line is probably the most accurate model in the infrared for blends of gases that contain high proportions of H 2O and CO 2 as this was the case for our prototype simulation. Our implementation on graphics processing units sustains a speedup close to 330 on computation-intensive tasks and 12 on memory intensive tasks compared to implementations on one core of high-end processors. This speedup is due to data parallelism, efficient memory access for specific patterns and some dedicated hardware operators only available in graphics processing units. It is obtained leaving most of processor resources available and it would scale linearly with the number of graphics processing units in parallel machines. Line-by-line simulation coupled with simulation of fluid dynamics was long believed to be economically intractable but our work shows that it could be done with some affordable additional resources compared to what is necessary to perform simulations on fluid dynamics alone. Program summaryProgram title: GPU4RE Catalogue identifier: ADZY_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADZY_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 62 776 No. of bytes in distributed program, including test data, etc.: 1 513 247 Distribution format: tar.gz Programming language: C++ Computer: x86 PC Operating system: Linux, Microsoft Windows. Compilation requires either gcc/g++ under Linux or Visual C++ 2003/2005 and Cygwin under Windows. It has been tested using gcc 4.1.2 under Ubuntu Linux 7.04 and using Visual C++ 2005 with Cygwin 1.5.24 under Windows XP. RAM: 1 gigabyte Classification: 21.2 External routines: OpenGL ( http://www.opengl.org) Nature of problem: Simulating radiative transfer on high-temperature high-pressure gases. Solution method: Line-by-line Monte-Carlo ray-tracing. Unusual features: Parallel computations are moved to the GPU. Additional comments: nVidia GeForce 7000 or ATI Radeon X1000 series graphics processing unit is required. Running time: A few minutes.

Fleet Mooring Leg Design Program Documentation. Volume 7. Source Listings: Table and Graphs.

DTIC Science & Technology

1982-12-01

cop3b ,wgt3. asgt3b, a s)lip,fr ict , cImp3, & scopi, Wgtl, 6 n&sep, & plx,plzpld, N 00 & p2x ,p2z ,P2d, & p3x p3z ,p3d, & hioad~hdir, & rbuoy ,xbuoy...XP-XPOINTl I( YP-YPOINT (Ii IF(JSW ED 1) GO TO 12S DELWX-WXU-WXL DELWY-WYU-WYL XP-(XPNT(I 1*OELWXI)/_,iLVX YP-(YPNT(I 3SOELWYJ/OELVY N’ 12S XF- ICT *XP...0) xcoord-xa a gym -S wrifelul .8) xcoord,hsym,isyn ws- 1 Soo continue * gYM -0 if (isg eq k) isym-S if (k ne 11 goto S0 xcoord-xm an gala 900 continue

User's Guide, software for reduction and analysis of daily weather and surface-water data: Tools for time series analysis of precipitation, temperature, and streamflow data

USGS Publications Warehouse

Hereford, Richard

2006-01-01

The software described here is used to process and analyze daily weather and surface-water data. The programs are refinements of earlier versions that include minor corrections and routines to calculate frequencies above a threshold on an annual or seasonal basis. Earlier versions of this software were used successfully to analyze historical precipitation patterns of the Mojave Desert and the southern Colorado Plateau regions, ecosystem response to climate variation, and variation of sediment-runoff frequency related to climate (Hereford and others, 2003; 2004; in press; Griffiths and others, 2006). The main program described here (Day_Cli_Ann_v5.3) uses daily data to develop a time series of various statistics for a user specified accounting period such as a year or season. The statistics include averages and totals, but the emphasis is on the frequency of occurrence in days of relatively rare weather or runoff events. These statistics are indices of climate variation; for a discussion of climate indices, see the Climate Research Unit website of the University of East Anglia (http://www.cru.uea.ac.uk/projects/stardex/) and the Climate Change Indices web site (http://cccma.seos.uvic.ca/ETCCDMI/indices.html). Specifically, the indices computed with this software are the frequency of high intensity 24-hour rainfall, unusually warm temperature, and unusually high runoff. These rare, or extreme events, are those greater than the 90th percentile of precipitation, streamflow, or temperature computed for the period of record of weather or gaging stations. If they cluster in time over several decades, extreme events may produce detectable change in the physical landscape and ecosystem of a given region. Although the software has been tested on a variety of data, as with any software, the user should carefully evaluate the results with their data. The programs were designed for the range of precipitation, temperature, and streamflow measurements expected in the semiarid Southwest United States. The user is encouraged to review the examples provided with the software. The software is written in Fortran 90 with Fortran 95 extensions and was compiled with the Digital Visual Fortran compiler version 6.6. The executables run on Windows 2000 and XP, and they operate in a MS-DOS console window that has only very simple graphical options such as font size and color, background color, and size of the window. Error trapping was not written into the programs. Typically, when an error occurs, the console window closes without a message.

A Monte-Carlo maplet for the study of the optical properties of biological tissues

NASA Astrophysics Data System (ADS)

Yip, Man Ho; Carvalho, M. J.

2007-12-01

Monte-Carlo simulations are commonly used to study complex physical processes in various fields of physics. In this paper we present a Maple program intended for Monte-Carlo simulations of photon transport in biological tissues. The program has been designed so that the input data and output display can be handled by a maplet (an easy and user-friendly graphical interface), named the MonteCarloMaplet. A thorough explanation of the programming steps and how to use the maplet is given. Results obtained with the Maple program are compared with corresponding results available in the literature. Program summaryProgram title:MonteCarloMaplet Catalogue identifier:ADZU_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADZU_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.:3251 No. of bytes in distributed program, including test data, etc.:296 465 Distribution format: tar.gz Programming language:Maple 10 Computer: Acer Aspire 5610 (any running Maple 10) Operating system: Windows XP professional (any running Maple 10) Classification: 3.1, 5 Nature of problem: Simulate the transport of radiation in biological tissues. Solution method: The Maple program follows the steps of the C program of L. Wang et al. [L. Wang, S.L. Jacques, L. Zheng, Computer Methods and Programs in Biomedicine 47 (1995) 131-146]; The Maple library routine for random number generation is used [Maple 10 User Manual c Maplesoft, a division of Waterloo Maple Inc., 2005]. Restrictions: Running time increases rapidly with the number of photons used in the simulation. Unusual features: A maplet (graphical user interface) has been programmed for data input and output. Note that the Monte-Carlo simulation was programmed with Maple 10. If attempting to run the simulation with an earlier version of Maple, appropriate modifications (regarding typesetting fonts) are required and once effected the worksheet runs without problem. However some of the windows of the maplet may still appear distorted. Running time: Depends essentially on the number of photons used in the simulation. Elapsed times for particular runs are reported in the main text.

Public/Private Partnerships with Hazardous Material Motor Carriers: Creating Incentives to Increase Security through Assessed Risk (STAR)

DTIC Science & Technology

2008-12-01

Program,” http://www.cbp.gov/xp/cgov/trade/cargo_security/ ctpat /fast/ (accessed October 14, 2008). 73 U.S. Customs and Border Protection, “What Is...Customs-Trade Partnership against Terrorism (C- TPAT)?” http://www.cbp.gov/xp/cgov/trade/cargo_security/ ctpat /what_ctpat/ (accessed October 14, 2008...cgov/trade/cargo_security/ ctpat / (accessed September 12, 2008). 69 1. National Park Service Historic Preservation Tax Incentives The U.S. government

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

PubMed Central

Fassihi, Hiva; Sethi, Mieran; Fawcett, Heather; Wing, Jonathan; Chandler, Natalie; Mohammed, Shehla; Craythorne, Emma; Morley, Ana M. S.; Lim, Rongxuan; Turner, Sally; Henshaw, Tanya; Garrood, Isabel; Giunti, Paola; Hedderly, Tammy; Abiona, Adesoji; Naik, Harsha; Harrop, Gemma; McGibbon, David; Jaspers, Nicolaas G. J.; Botta, Elena; Nardo, Tiziana; Stefanini, Miria; Young, Antony R.; Sarkany, Robert P. E.; Lehmann, Alan R.

2016-01-01

Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Genetically, it is assigned to eight complementation groups (XP-A to -G and variant). For the last 5 y, the UK national multidisciplinary XP service has provided follow-up for 89 XP patients, representing most of the XP patients in the United Kingdom. Causative mutations, DNA repair levels, and more than 60 clinical variables relating to dermatology, ophthalmology, and neurology have been measured, using scoring systems to categorize disease severity. This deep phenotyping has revealed unanticipated heterogeneity of clinical features, between and within complementation groups. Skin cancer is most common in XP-C, XP-E, and XP-V patients, previously considered to be the milder groups based on cellular analyses. These patients have normal sunburn reactions and are therefore diagnosed later and are less likely to adhere to UVR protection. XP-C patients are specifically hypersensitive to ocular damage, and XP-F and XP-G patients appear to be much less susceptible to skin cancer than other XP groups. Within XP groups, different mutations confer susceptibility or resistance to neurological damage. Our findings on this large cohort of XP patients under long-term follow-up reveal that XP is more heterogeneous than has previously been appreciated. Our data now enable provision of personalized prognostic information and management advice for each XP patient, as well as providing new insights into the functions of the XP proteins. PMID:26884178

TEA CO 2 Laser Simulator: A software tool to predict the output pulse characteristics of TEA CO 2 laser

NASA Astrophysics Data System (ADS)

Abdul Ghani, B.

2005-09-01

"TEA CO 2 Laser Simulator" has been designed to simulate the dynamic emission processes of the TEA CO 2 laser based on the six-temperature model. The program predicts the behavior of the laser output pulse (power, energy, pulse duration, delay time, FWHM, etc.) depending on the physical and geometrical input parameters (pressure ratio of gas mixture, reflecting area of the output mirror, media length, losses, filling and decay factors, etc.). Program summaryTitle of program: TEA_CO2 Catalogue identifier: ADVW Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADVW Program obtainable from: CPC Program Library, Queen's University of Belfast, N. Ireland Computer: P.IV DELL PC Setup: Atomic Energy Commission of Syria, Scientific Services Department, Mathematics and Informatics Division Operating system: MS-Windows 9x, 2000, XP Programming language: Delphi 6.0 No. of lines in distributed program, including test data, etc.: 47 315 No. of bytes in distributed program, including test data, etc.:7 681 109 Distribution format:tar.gz Classification: 15 Laser Physics Nature of the physical problem: "TEA CO 2 Laser Simulator" is a program that predicts the behavior of the laser output pulse by studying the effect of the physical and geometrical input parameters on the characteristics of the output laser pulse. The laser active medium consists of a CO 2-N 2-He gas mixture. Method of solution: Six-temperature model, for the dynamics emission of TEA CO 2 laser, has been adapted in order to predict the parameters of laser output pulses. A simulation of the laser electrical pumping was carried out using two approaches; empirical function equation (8) and differential equation (9). Typical running time: The program's running time mainly depends on both integration interval and step; for a 4 μs period of time and 0.001 μs integration step (defaults values used in the program), the running time will be about 4 seconds. Restrictions on the complexity: Using a very small integration step might leads to stop the program run due to the huge number of calculating points and to a small paging file size of the MS-Windows virtual memory. In such case, it is recommended to enlarge the paging file size to the appropriate size, or to use a bigger value of integration step.

Expression of matrix metalloproteinase-13 and Ki-67 in nonmelanoma skin cancer in xeroderma pigmentosum and non-xeroderma pigmentosum.

PubMed

El-Hawary, Amira K; Yassin, Eman; Khater, Ashraf; Abdelgaber, Soheir

2013-02-01

Xeroderma pigmentosum (XP) is a heterogenous group of genetic diseases in which basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer (NMSC) followed by squamous cell carcinoma (SCC). The aim of this study was to investigate the expression of matrix metalloproteinase (MMP)-13 and Ki-67 in SCC and BCC from patients with and without XP to elucidate their roles in the pathogenesis of these highly aggressive tumors in patients with XP. Immunolabeling using MMP-13 and Ki-67 antibodies was performed on tissue sections derived from skin biopsies of SCC and BCC of 15 patients with XP and 40 non-XP patients. There was no significant difference between XP and non-XP patients as regards MMP-13 expression by epithelial and stromal cells of SCC or BCC. Ki-67 expression in SCC and BCC of patients with XP was significantly higher than in non-XP patients. We concluded that the higher expression of Ki-67 in NMSC of patients with XP than of non-XP patients may reflect the growth and invasive capacity of these tumors in patients with XP. MMP-13 is expressed by tumor epithelial cells, stromal and inflammatory cells of NMSC of both XP and non-XP patients.

Diagnosis of eight groups of xeroderma pigmentosum by genetic complementation using recombinant adenovirus vectors.

PubMed

Yamashita, Toshiharu; Okura, Masae; Ishii-Osai, Yasue; Hida, Tokimasa

2016-10-01

Because patients with xeroderma pigmentosum (XP) must avoid ultraviolet (UV) light from an early age, an early diagnosis of this disorder is essential. XP is composed of seven genetic complementation groups, XP-A to -G, and a variant type (XP-V). To establish an easy and accurate diagnosis of the eight disease groups, we constructed recombinant adenoviruses that expressed one of the XP cDNA. When fibroblasts derived from patients with XP-A, -B, -C, -D, -F or -G were infected with the adenovirus expressing XPA, XPB, XPC, XPD, XPF or XPG, respectively, and UV-C at 5-20 J/m 2 was irradiated, cell viability was clearly recovered by the corresponding recombinant adenoviruses. In contrast, XP-E and XP-V cells were not significantly sensitive to UV irradiation and were barely complemented by the matched recombinant adenoviruses. However, co-infection of Ad-XPA with Ad-XPE increased survival rate of XP-E cells after UV-C exposure. When XP-V cell strains, including one derived from a Japanese patient, were infected with Ad-XPV, exposed to UV-B and cultured with 1 mmol/L of caffeine, flow cytometry detected a characteristic decrease in the S phase in all the XP-V cell strains. From these results, the eight groups of XP could be differentiated by utilizing a set of recombinant adenoviruses, indicating that our procedure provides a convenient and correct diagnostic method for all the XP groups including XP-E and XP-V. © 2016 Japanese Dermatological Association.

MPI implementation of PHOENICS: A general purpose computational fluid dynamics code

NASA Astrophysics Data System (ADS)

Simunovic, S.; Zacharia, T.; Baltas, N.; Spalding, D. B.

1995-03-01

PHOENICS is a suite of computational analysis programs that are used for simulation of fluid flow, heat transfer, and dynamical reaction processes. The parallel version of the solver EARTH for the Computational Fluid Dynamics (CFD) program PHOENICS has been implemented using Message Passing Interface (MPI) standard. Implementation of MPI version of PHOENICS makes this computational tool portable to a wide range of parallel machines and enables the use of high performance computing for large scale computational simulations. MPI libraries are available on several parallel architectures making the program usable across different architectures as well as on heterogeneous computer networks. The Intel Paragon NX and MPI versions of the program have been developed and tested on massively parallel supercomputers Intel Paragon XP/S 5, XP/S 35, and Kendall Square Research, and on the multiprocessor SGI Onyx computer at Oak Ridge National Laboratory. The preliminary testing results of the developed program have shown scalable performance for reasonably sized computational domains.

MPI implementation of PHOENICS: A general purpose computational fluid dynamics code

DOE Office of Scientific and Technical Information (OSTI.GOV)

Simunovic, S.; Zacharia, T.; Baltas, N.

1995-04-01

PHOENICS is a suite of computational analysis programs that are used for simulation of fluid flow, heat transfer, and dynamical reaction processes. The parallel version of the solver EARTH for the Computational Fluid Dynamics (CFD) program PHOENICS has been implemented using Message Passing Interface (MPI) standard. Implementation of MPI version of PHOENICS makes this computational tool portable to a wide range of parallel machines and enables the use of high performance computing for large scale computational simulations. MPI libraries are available on several parallel architectures making the program usable across different architectures as well as on heterogeneous computer networks. Themore » Intel Paragon NX and MPI versions of the program have been developed and tested on massively parallel supercomputers Intel Paragon XP/S 5, XP/S 35, and Kendall Square Research, and on the multiprocessor SGI Onyx computer at Oak Ridge National Laboratory. The preliminary testing results of the developed program have shown scalable performance for reasonably sized computational domains.« less

MI-ANFIS: A Multiple Instance Adaptive Neuro-Fuzzy Inference System

DTIC Science & Technology

2015-08-02

AUTHORS 7. PERFORMING ORGANIZATION NAMES AND ADDRESSES 15. SUBJECT TERMS b. ABSTRACT 2 . REPORT TYPE 17. LIMITATION OF ABSTRACT 15. NUMBER OF...fuzzy logic can deal with the uncertainty of human cognition [ 2 ]. ANFIS offers an alternative to rules’ identification. While Mamdani [3] and Sugeno [4...dimensional vector with elements xpjk corresponding to features, i.e., Bp =  xp11 xp12 . . . xp1D xp21 xp22 . . . xp2D ... ... . . . ... xpMp1

Relationship of the Xeroderma Pigmentosum Group E DNA Repair Defect to the Chromatin and DNA Binding Proteins UV-DDB and Replication Protein A

PubMed Central

Rapić Otrin, Vesna; Kuraoka, Isao; Nardo, Tiziana; McLenigan, Mary; Eker, A. P. M.; Stefanini, Miria; Levine, Arthur S.; Wood, Richard D.

1998-01-01

Cells from complementation groups A through G of the heritable sun-sensitive disorder xeroderma pigmentosum (XP) show defects in nucleotide excision repair of damaged DNA. Proteins representing groups A, B, C, D, F, and G are subunits of the core recognition and incision machinery of repair. XP group E (XP-E) is the mildest form of the disorder, and cells generally show about 50% of the normal repair level. We investigated two protein factors previously implicated in the XP-E defect, UV-damaged DNA binding protein (UV-DDB) and replication protein A (RPA). Three newly identified XP-E cell lines (XP23PV, XP25PV, and a line formerly classified as an XP variant) were defective in UV-DDB binding activity but had levels of RPA in the normal range. The XP-E cell extracts did not display a significant nucleotide excision repair defect in vitro, with either UV-irradiated DNA or a uniquely placed cisplatin lesion used as a substrate. Purified UV-DDB protein did not stimulate repair of naked DNA by DDB− XP-E cell extracts, but microinjection of the protein into DDB− XP-E cells could partially correct the repair defect. RPA stimulated repair in normal, XP-E, or complemented extracts from other XP groups, and so the effect of RPA was not specific for XP-E cell extracts. These data strengthen the connection between XP-E and UV-DDB. Coupled with previous results, the findings suggest that UV-DDB has a role in the repair of DNA in chromatin. PMID:9584159

Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.

PubMed

Sun, Z; Zhang, J; Guo, Y; Ni, C; Liang, J; Cheng, R; Li, M; Yao, Z

2015-04-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to sunlight, freckle-like pigmentation and a greatly increased incidence of skin cancers. Genetic mutation detection and genotype-phenotype analysis of XP are rarely reported in the Chinese Han population. To investigate the mutational spectrum of XP in a Chinese Han population, to discover any genotype-phenotype correlation and, consequently, to propose a simple and effective tool for the molecular diagnosis of XP. This study was carried out on 12 unrelated Chinese families that included 13 patients with clinically suspected XP. Genomic DNA was extracted from peripheral blood samples. Mutation screening was performed by direct sequencing of exons and flanking intron-exon boundaries for the entire coding region of eight XP genes. In 12 patients, direct sequencing of the whole coding region of eight XP genes revealed pathogenic mutations, including seven compound heterozygous mutations, three homozygous mutations and a Japanese founder mutation. Thirteen mutations have not been previously identified. This cohort was composed of four patients with XP-C (XPC), two with XP-G (ERCC5), three with XP-A (XPA) and three with XP-V (POLH). This study identified 13 novel mutations and extended the mutation spectrum of XP in the Chinese Han population. In this cohort, we found that patients with XP-G have no neurological symptoms, and patients with XP-A and XP-V have a high incidence of malignancy. Furthermore, lack of stringent protection against sunlight, late diagnosis and long duration of disease play an important role. © 2014 British Association of Dermatologists.

Analysis of point mutations in an ultraviolet-irradiated shuttle vector plasmid propagated in cells from Japanese xeroderma pigmentosum patients in complementation groups A and F

DOE Office of Scientific and Technical Information (OSTI.GOV)

Yagi, T.; Tatsumi-Miyajima, J.; Sato, M.

1991-06-15

To assess the contribution to mutagenesis by human DNA repair defects, a UV-treated shuttle vector plasmid, pZ189, was passed through fibroblasts derived from Japanese xeroderma pigmentosum (XP) patients in two different DNA repair complementation groups (A and F). Patients with XP have clinical and cellular UV hypersensitivity, increased frequency of skin cancer, and defects in DNA repair. The XP DNA repair defects represented by complementation groups A (XP-A) and F (XP-F) are more common in Japan than in Europe or the United States. In comparison to results with DNA repair-proficient human cells (W138-VA13), UV-treated pZ189 passed through the XP-A (XP2OS(SV))more » or XP-F (XP2YO(SV)) cells showed fewer surviving plasmids (XP-A less than XP-F) and a higher frequency of mutated plasmids (XP-A greater than XP-F). Base sequence analysis of more than 200 mutated plasmids showed the major type of base substitution mutation to be the G:C----A:T transition with all three cell lines. The XP-A and XP-F cells revealed a higher frequency of G:C----A:T transitions and a lower frequency of transversions among plasmids with single or tandem mutations and a lower frequency of plasmids with multiple point mutations compared to the normal line. The spectrum of mutations in pZ189 with the XP-A cells was similar to that with the XP-F cells. Seventy-six to 91% of the single base substitution mutations occurred at G:C base pairs in which the 5{prime}-neighboring base of the cytosine was thymine or cytosine. These studies indicate that the DNA repair defects in Japanese XP patients in complementation groups A and F result in different frequencies of plasmid survival and mutagenesis but in similar types of mutagenic abnormalities despite marked differences in clinical features.« less

CoalVal-A coal resource valuation program

USGS Publications Warehouse

Rohrbacher, Timothy J.; McIntosh, Gary E.

2010-01-01

CoalVal is a menu-driven Windows program that produces cost-of-mining analyses of mine-modeled coal resources. Geological modeling of the coal beds and some degree of mine planning, from basic prefeasibility to advanced, must already have been performed before this program can be used. United States Geological Survey mine planning is done from a very basic, prefeasibility standpoint, but the accuracy of CoalVal's output is a reflection of the accuracy of the data entered, both for mine costs and mine planning. The mining cost analysis is done by using mine cost models designed for the commonly employed, surface and underground mining methods utilized in the United States. CoalVal requires a Microsoft Windows? 98 or Windows? XP operating system and a minimum of 1 gigabyte of random access memory to perform operations. It will not operate on Microsoft Vista?, Windows? 7, or Macintosh? operating systems. The program will summarize the evaluation of an unlimited number of coal seams, haulage zones, tax entities, or other area delineations for a given coal property, coalfield, or basin. When the reader opens the CoalVal publication from the USGS website, options are provided to download the CoalVal publication manual and the CoalVal Program. The CoalVal report is divided into five specific areas relevant to the development and use of the CoalVal program: 1. Introduction to CoalVal Assumptions and Concepts. 2. Mine Model Assumption Details (appendix A). 3. CoalVal Project Tutorial (appendix B). 4. Program Description (appendix C). 5. Mine Model and Discounted Cash Flow Formulas (appendix D). The tutorial explains how to enter coal resource and quality data by mining method; program default values for production, operating, and cost variables; and ones own operating and cost variables into the program. Generated summary reports list the volume of resource in short tons available for mining, recoverable short tons by mining method; the seam or property being mined; operating cost per ton; and discounted cash flow cost per ton to mine and process the resources. Costs are calculated as loaded in a unit train, free-on-board the tipple, at a rate of return prescribed by the evaluator. The recoverable resources (in short tons) may be grouped by incremental cost over any range chosen by the user. For example, in the Gillette coalfield evaluation, the discounted cash flow mining cost (at an 8 percent rate of return) and its associated tonnage may be grouped by any applicable increment (for example, $0.10 per ton, $0.20 per ton, and so on) and using any dollar per ton range that is desired (for example, from $4.00 per ton to $15.00 per ton). This grouping ability allows the user to separate the coal reserves from the nonreserve resources and to construct cost curves to determine the effects of coal market fluctuations on the availability of coal for fuel whether for the generation of electricity or for coal-to-liquids processes. Coking coals are not addressed in this report.

MDCT findings of renal cell carcinoma associated with Xp11.2 translocation and TFE3 gene fusion and papillary renal cell carcinoma.

PubMed

Woo, Sungmin; Kim, Sang Youn; Lee, Myoung Seok; Moon, Kyung Chul; Kim, See Hyung; Cho, Jeong Yeon; Kim, Seung Hyup

2015-03-01

OBJECTIVE. The purpose of this study was to compare the MDCT features of renal cell carcinoma (RCC) associated with Xp11.2 translocation and TFE3 gene fusion (Xp11 RCC) and papillary RCC. MATERIALS AND METHODS. The study included 19 and 39 patients with histologically proven Xp11 RCC and papillary RCC, respectively, who underwent multiphase renal MDCT before nephrectomy. CT findings were compared between Xp11 RCC and papillary RCC using the Student t test and chi-square test. Subgroup analyses of small (< 4 cm) renal masses for these features were performed. RESULTS. Patients with Xp11 RCC were younger (p < 0.001), and it was more prevalent in women (p = 0.007). Tumor size was greater in Xp11 RCC (p = 0.004) and more common in cystic change (p < 0.001). Calcification and unenhanced high-attenuating areas were more frequent in Xp11 RCC (p = 0.001 and 0.026, respectively). Xp11 RCCs were more prevalent in lymph node and distant metastasis (p < 0.001 and p = 0.031, respectively). Xp11 RCC and papillary RCC showed no significant difference in epicenter, margin, and venous and collecting duct invasion (p = 0.403-1.000). Although Xp11 RCC and papillary RCC had lower attenuation than the renal cortex on corticomedullary and early excretory phases (p < 0.001), only Xp11 RCCs were hyperattenuating to the cortex on the unenhanced phase (p < 0.001). Xp11 RCCs had significantly higher attenuation compared with papillary RCCs on all phases (p ≤ 0.02). Regarding small masses, cystic change, calcification, and lymph node metastasis were still more frequent in Xp11 RCCs (p ≤ 0.016). CONCLUSION. Greater size, more cystic change, calcification, high-attenuating areas on unenhanced imaging, and lymph node and distant metastasis were helpful for differentiating Xp11 RCC from papillary RCC.

Real-time Java simulations of multiple interference dielectric filters

NASA Astrophysics Data System (ADS)

Kireev, Alexandre N.; Martin, Olivier J. F.

2008-12-01

An interactive Java applet for real-time simulation and visualization of the transmittance properties of multiple interference dielectric filters is presented. The most commonly used interference filters as well as the state-of-the-art ones are embedded in this platform-independent applet which can serve research and education purposes. The Transmittance applet can be freely downloaded from the site http://cpc.cs.qub.ac.uk. Program summaryProgram title: Transmittance Catalogue identifier: AEBQ_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEBQ_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 5778 No. of bytes in distributed program, including test data, etc.: 90 474 Distribution format: tar.gz Programming language: Java Computer: Developed on PC-Pentium platform Operating system: Any Java-enabled OS. Applet was tested on Windows ME, XP, Sun Solaris, Mac OS RAM: Variable Classification: 18 Nature of problem: Sophisticated wavelength selective multiple interference filters can include some tens or even hundreds of dielectric layers. The spectral response of such a stack is not obvious. On the other hand, there is a strong demand from application designers and students to get a quick insight into the properties of a given filter. Solution method: A Java applet was developed for the computation and the visualization of the transmittance of multilayer interference filters. It is simple to use and the embedded filter library can serve educational purposes. Also, its ability to handle complex structures will be appreciated as a useful research and development tool. Running time: Real-time simulations

SNP_tools: A compact tool package for analysis and conversion of genotype data for MS-Excel

PubMed Central

Chen, Bowang; Wilkening, Stefan; Drechsel, Marion; Hemminki, Kari

2009-01-01

Background Single nucleotide polymorphism (SNP) genotyping is a major activity in biomedical research. Scientists prefer to have a facile access to the results which may require conversions between data formats. First hand SNP data is often entered in or saved in the MS-Excel format, but this software lacks genetic and epidemiological related functions. A general tool to do basic genetic and epidemiological analysis and data conversion for MS-Excel is needed. Findings The SNP_tools package is prepared as an add-in for MS-Excel. The code is written in Visual Basic for Application, embedded in the Microsoft Office package. This add-in is an easy to use tool for users with basic computer knowledge (and requirements for basic statistical analysis). Conclusion Our implementation for Microsoft Excel 2000-2007 in Microsoft Windows 2000, XP, Vista and Windows 7 beta can handle files in different formats and converts them into other formats. It is a free software. PMID:19852806

SNP_tools: A compact tool package for analysis and conversion of genotype data for MS-Excel.

PubMed

Chen, Bowang; Wilkening, Stefan; Drechsel, Marion; Hemminki, Kari

2009-10-23

Single nucleotide polymorphism (SNP) genotyping is a major activity in biomedical research. Scientists prefer to have a facile access to the results which may require conversions between data formats. First hand SNP data is often entered in or saved in the MS-Excel format, but this software lacks genetic and epidemiological related functions. A general tool to do basic genetic and epidemiological analysis and data conversion for MS-Excel is needed. The SNP_tools package is prepared as an add-in for MS-Excel. The code is written in Visual Basic for Application, embedded in the Microsoft Office package. This add-in is an easy to use tool for users with basic computer knowledge (and requirements for basic statistical analysis). Our implementation for Microsoft Excel 2000-2007 in Microsoft Windows 2000, XP, Vista and Windows 7 beta can handle files in different formats and converts them into other formats. It is a free software.

The present status of xeroderma pigmentosum in Japan and a tentative severity classification scale.

PubMed

Nakano, Eiji; Masaki, Taro; Kanda, Fumio; Ono, Ryusuke; Takeuchi, Seiji; Moriwaki, Shinichi; Nishigori, Chikako

2016-08-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease. Patients with XP have severe hypersensitivity to sunlight, resulting in skin cancers, and some patients have neurological symptoms. In Japan, XP complementation group A (XP-A) is the most common form, and it is associated with severe neurological symptoms. We performed a nationwide survey on XP to determine the present status of XP in Japan. The distribution of complementation groups in Japan was considerably different from that in other countries, but there was a higher frequency in group A and the variant type, which is similar to previous reports in Japan. Basal cell carcinoma was the most frequent skin cancer that patients with XP developed, followed by squamous cell carcinoma and malignant melanoma. The frequency of these skin cancers in patients with XP-A has decreased, and these skin cancers have been occurring in much older people than those previously observed. Diagnosing XP in patients at younger ages seems to encourage patients and their parents to use sun protection, which helps prevent skin cancer. We also created a tentative scale for classifying the severity of XP, and we evaluated the neurological symptoms of XP-A using this severity scale. Our classification correlated well with patients' age, suggesting that it may be useful and feasible in clinical practice to assess the progression of symptoms of each patient with XP and evaluate the effects of treatment in the future. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Scalable and portable visualization of large atomistic datasets

NASA Astrophysics Data System (ADS)

Sharma, Ashish; Kalia, Rajiv K.; Nakano, Aiichiro; Vashishta, Priya

2004-10-01

A scalable and portable code named Atomsviewer has been developed to interactively visualize a large atomistic dataset consisting of up to a billion atoms. The code uses a hierarchical view frustum-culling algorithm based on the octree data structure to efficiently remove atoms outside of the user's field-of-view. Probabilistic and depth-based occlusion-culling algorithms then select atoms, which have a high probability of being visible. Finally a multiresolution algorithm is used to render the selected subset of visible atoms at varying levels of detail. Atomsviewer is written in C++ and OpenGL, and it has been tested on a number of architectures including Windows, Macintosh, and SGI. Atomsviewer has been used to visualize tens of millions of atoms on a standard desktop computer and, in its parallel version, up to a billion atoms. Program summaryTitle of program: Atomsviewer Catalogue identifier: ADUM Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADUM Program obtainable from: CPC Program Library, Queen's University of Belfast, N. Ireland Computer for which the program is designed and others on which it has been tested: 2.4 GHz Pentium 4/Xeon processor, professional graphics card; Apple G4 (867 MHz)/G5, professional graphics card Operating systems under which the program has been tested: Windows 2000/XP, Mac OS 10.2/10.3, SGI IRIX 6.5 Programming languages used: C++, C and OpenGL Memory required to execute with typical data: 1 gigabyte of RAM High speed storage required: 60 gigabytes No. of lines in the distributed program including test data, etc.: 550 241 No. of bytes in the distributed program including test data, etc.: 6 258 245 Number of bits in a word: Arbitrary Number of processors used: 1 Has the code been vectorized or parallelized: No Distribution format: tar gzip file Nature of physical problem: Scientific visualization of atomic systems Method of solution: Rendering of atoms using computer graphic techniques, culling algorithms for data minimization, and levels-of-detail for minimal rendering Restrictions on the complexity of the problem: None Typical running time: The program is interactive in its execution Unusual features of the program: None References: The conceptual foundation and subsequent implementation of the algorithms are found in [A. Sharma, A. Nakano, R.K. Kalia, P. Vashishta, S. Kodiyalam, P. Miller, W. Zhao, X.L. Liu, T.J. Campbell, A. Haas, Presence—Teleoperators and Virtual Environments 12 (1) (2003)].

Xp11.2 translocation renal cell carcinomas in young adults.

PubMed

Xu, Linfeng; Yang, Rong; Gan, Weidong; Chen, Xiancheng; Qiu, Xuefeng; Fu, Kai; Huang, Jin; Zhu, Guancheng; Guo, Hongqian

2015-07-01

Little is known about the biological behavior of Xp11.2 translocation renal cell carcinomas (RCCs) as few clinical studies have been performed using a large sample size. This study included 103 consecutive young adult patients (age ≤ 45 years) with RCC who underwent partial or radical nephrectomy at our institution from 2008 to 2013. Five patients without complete clinical data were excluded. Of the 98 remaining patients, 16 and 82 patients were included in the Xp11.2 translocation and non-Xp11.2 translocation groups, respectively. Clinicopathologic data were collected, including age, gender, tumor size, laterality, symptoms at diagnosis, surgical procedure, pathologic stage, tumor grade, time of recurrence and death. Xp11.2 translocation RCCs were associated with higher tumor grade and pathologic stage (P < 0.05, Fisher's exact test). During the median follow-up of 36 months (range: 3-71 months), the number of cancer-related deaths was 4 (4.9%) and 3 (18.7%) in the non-Xp11.2 translocation and Xp11.2 translocation groups, respectively. The Kaplan-Meier cancer specific survival curves revealed a significant difference between non-Xp11.2 translocation RCCs and Xp11.2 translocation RCCs in young adults (P = 0.042). Compared with non-Xp11.2 translocation RCCs, the Xp11.2 translocation RCCs seemingly showed a higher tumor grade and pathologic stage and have similar recurrence-free survival rates but poorer cancer-specific survival rates in young adults.

Multithreaded transactions in scientific computing: New versions of a computer program for kinematical calculations of RHEED intensity oscillations

NASA Astrophysics Data System (ADS)

Brzuszek, Marcin; Daniluk, Andrzej

2006-11-01

Writing a concurrent program can be more difficult than writing a sequential program. Programmer needs to think about synchronisation, race conditions and shared variables. Transactions help reduce the inconvenience of using threads. A transaction is an abstraction, which allows programmers to group a sequence of actions on the program into a logical, higher-level computation unit. This paper presents multithreaded versions of the GROWTH program, which allow to calculate the layer coverages during the growth of thin epitaxial films and the corresponding RHEED intensities according to the kinematical approximation. The presented programs also contain graphical user interfaces, which enable displaying program data at run-time. New version program summaryTitles of programs:GROWTHGr, GROWTH06 Catalogue identifier:ADVL_v2_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADVL_v2_0 Program obtainable from:CPC Program Library, Queen's University of Belfast, N. Ireland Catalogue identifier of previous version:ADVL Does the new version supersede the original program:No Computer for which the new version is designed and others on which it has been tested: Pentium-based PC Operating systems or monitors under which the new version has been tested: Windows 9x, XP, NT Programming language used:Object Pascal Memory required to execute with typical data:More than 1 MB Number of bits in a word:64 bits Number of processors used:1 No. of lines in distributed program, including test data, etc.:20 931 Number of bytes in distributed program, including test data, etc.: 1 311 268 Distribution format:tar.gz Nature of physical problem: The programs compute the RHEED intensities during the growth of thin epitaxial structures prepared using the molecular beam epitaxy (MBE). The computations are based on the use of kinematical diffraction theory [P.I. Cohen, G.S. Petrich, P.R. Pukite, G.J. Whaley, A.S. Arrott, Surf. Sci. 216 (1989) 222. [1

Xp11 translocation renal cell carcinoma in adults: a clinicopathological and comparative genomic hybridization study

PubMed Central

Zou, Hong; Kang, Xueling; Pang, Li-Juan; Hu, Wenhao; Zhao, Jin; Qi, Yan; Hu, Jianming; Liu, Chunxia; Li, Hongan; Liang, Weihua; Yuan, Xianglin; Li, Feng

2014-01-01

To study the clinicopathological and genomic characteristics of Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) in adults, we analyzed 9 Xp11.2 RCCs, confirmed by transcription factor E3 (TFE3) immunohistochemistry, in patients aged ≥20 years. TFE3 expression was also determined in 12 cases of alveolar soft part sarcoma (ASPS) served as a positive control. Comparative genomic hybridization (CGH) was used to investigate genomic imbalances in all Xp11.2 RCC cases. Most of our Xp11.2 RCC patients (5/9) presented with TNM stages 3-4, and 6 patients died 10 months to 7 years after their operation. Histologically, Xp11.2 RCC was composed of a mixed papillary nested/alveolar growth pattern (8/9). Immunostaining showed that all Xp11.2 RCC and ASPS cases had strong TFE3 expression and high positive ratios for p53 and vimentin. However, there were significant differences in the expression of AMACR (p<0.001), AE1/AE3 (p=0.002), and CD10 (p=0.024) between the 2 diseases. CGH profiles showed chromosomal imbalances in all 9 Xp11.2 RCC cases; gains were observed in chromosomes Xp11 (6/9), 7q20-25, 12q25-31 (5/9), 7p16-24 (4/9), 8p12-13, 8q20-21, 16q20-22, 17q25-26, 20q22-23 (4/9), and losses occurred frequently on chromosomes 3p12-16, 9q31-32, 14q22-24 (4/9). Our Conclusions show Xp11.2 RCC that occur in adults may be aggressive cancers, the expressions of AMACR, CD10, AE1/AE3 are helpful in the differential diagnosis between Xp11.2 RCC and ASPS, and CGH assay is a useful complementary method for confirming the diagnosis of Xp11.2 RCC. PMID:24427344

Xp11 translocation renal cell carcinoma in adults: a clinicopathological and comparative genomic hybridization study.

PubMed

Zou, Hong; Kang, Xueling; Pang, Li-Juan; Hu, Wenhao; Zhao, Jin; Qi, Yan; Hu, Jianming; Liu, Chunxia; Li, Hongan; Liang, Weihua; Yuan, Xianglin; Li, Feng

2014-01-01

To study the clinicopathological and genomic characteristics of Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) in adults, we analyzed 9 Xp11.2 RCCs, confirmed by transcription factor E3 (TFE3) immunohistochemistry, in patients aged ≥20 years. TFE3 expression was also determined in 12 cases of alveolar soft part sarcoma (ASPS) served as a positive control. Comparative genomic hybridization (CGH) was used to investigate genomic imbalances in all Xp11.2 RCC cases. Most of our Xp11.2 RCC patients (5/9) presented with TNM stages 3-4, and 6 patients died 10 months to 7 years after their operation. Histologically, Xp11.2 RCC was composed of a mixed papillary nested/alveolar growth pattern (8/9). Immunostaining showed that all Xp11.2 RCC and ASPS cases had strong TFE3 expression and high positive ratios for p53 and vimentin. However, there were significant differences in the expression of AMACR (p<0.001), AE1/AE3 (p=0.002), and CD10 (p=0.024) between the 2 diseases. CGH profiles showed chromosomal imbalances in all 9 Xp11.2 RCC cases; gains were observed in chromosomes Xp11 (6/9), 7q20-25, 12q25-31 (5/9), 7p16-24 (4/9), 8p12-13, 8q20-21, 16q20-22, 17q25-26, 20q22-23 (4/9), and losses occurred frequently on chromosomes 3p12-16, 9q31-32, 14q22-24 (4/9). Our Conclusions show Xp11.2 RCC that occur in adults may be aggressive cancers, the expressions of AMACR, CD10, AE1/AE3 are helpful in the differential diagnosis between Xp11.2 RCC and ASPS, and CGH assay is a useful complementary method for confirming the diagnosis of Xp11.2 RCC.

A new version of a computer program for dynamical calculations of RHEED intensity oscillations

NASA Astrophysics Data System (ADS)

Daniluk, Andrzej; Skrobas, Kazimierz

2006-01-01

We present a new version of the RHEED program which contains a graphical user interface enabling the use of the program in the graphical environment. The presented program also contains a graphical component which enables displaying program data at run-time through an easy-to-use graphical interface. New version program summaryTitle of program: RHEEDGr Catalogue identifier: ADWV Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADWV Program obtainable from: CPC Program Library, Queen's University of Belfast, N. Ireland Catalogue identifier of previous version: ADUY Authors of the original program: A. Daniluk Does the new version supersede the original program: no Computer for which the new version is designed and others on which it has been tested: Pentium-based PC Operating systems or monitors under which the new version has been tested: Windows 9x, XP, NT Programming language used: Borland C++ Builder Memory required to execute with typical data: more than 1 MB Number of bits in a word: 64 bits Number of processors used: 1 Number of lines in distributed program, including test data, etc.: 5797 Number of bytes in distributed program, including test data, etc.: 588 121 Distribution format: tar.gz Nature of physical problem: Reflection high-energy electron diffraction (RHEED) is a very useful technique for studying growth and surface analysis of thin epitaxial structures prepared by the molecular beam epitaxy (MBE). The RHEED technique can reveal, almost instantaneously, changes either in the coverage of the sample surface by adsorbates or in the surface structure of a thin film. Method of solution: RHEED intensities are calculated within the framework of the general matrix formulation of Peng and Whelan [1] under the one-beam condition. Reasons for the new version: Responding to the user feedback we designed a graphical package that enables displaying program data at run-time through an easy-to-use graphical interface. Summary of revisions:In the present form the code is an object-oriented extension of previous version [2]. Fig. 1 shows the static structure of classes and their possible relationships (i.e. inheritance, association, aggregation and dependency) in the code. The code has been modified and optimized to compile under the C++ Builder integrated development environment (IDE). A graphical user interface (GUI) for the program has been created. The application is a standard multiple document interface (MDI) project from Builder's object repository. The MDI application spawns child window that reside within the client window; the main form contains child object. We have added an original graphical component [3] which has been tested successfully in the C++ Builder programming environment under Microsoft Windows platform. Fig. 2 shows internal structure of the component. This diagram is a graphic presentation of the static view which shows a collection of declarative model elements, such as classes, types, and their relationships. Each of the model elements shown in Fig. 2 is manifested by one header file Graph2D.h, and one code file Graph2D.cpp. Fig. 3 sets the stage by showing the package which supplies the C++ Builder elements used in the component. Installation instructions of the TGraph2D.bpk package can be found in the new distribution. The program has been constructed according to the systems development live cycle (SDLC) methodology [4]. Typical running time: The typical running time is machine and user-parameters dependent. Unusual features of the program: The program is distributed in the form of a main project RHEEDGr.bpr with associated files, and should be compiled using Borland C++ Builder compilers version 5 or later.

Efficacy of a Newly Designed Cephalometric Analysis Software for McNamara Analysis in Comparison with Dolphin Software.

PubMed

Nouri, Mahtab; Hamidiaval, Shadi; Akbarzadeh Baghban, Alireza; Basafa, Mohammad; Fahim, Mohammad

2015-01-01

Cephalometric norms of McNamara analysis have been studied in various populations due to their optimal efficiency. Dolphin cephalometric software greatly enhances the conduction of this analysis for orthodontic measurements. However, Dolphin is very expensive and cannot be afforded by many clinicians in developing countries. A suitable alternative software program in Farsi/English will greatly help Farsi speaking clinicians. The present study aimed to develop an affordable Iranian cephalometric analysis software program and compare it with Dolphin, the standard software available on the market for cephalometric analysis. In this diagnostic, descriptive study, 150 lateral cephalograms of normal occlusion individuals were selected in Mashhad and Qazvin, two major cities of Iran mainly populated with Fars ethnicity, the main Iranian ethnic group. After tracing the cephalograms, the McNamara analysis standards were measured both with Dolphin and the new software. The cephalometric software was designed using Microsoft Visual C++ program in Windows XP. Measurements made with the new software were compared with those of Dolphin software on both series of cephalograms. The validity and reliability were tested using intra-class correlation coefficient. Calculations showed a very high correlation between the results of the Iranian cephalometric analysis software and Dolphin. This confirms the validity and optimal efficacy of the newly designed software (ICC 0.570-1.0). According to our results, the newly designed software has acceptable validity and reliability and can be used for orthodontic diagnosis, treatment planning and assessment of treatment outcome.

A Customized Drought Decision Support Tool for Hsinchu Science Park

NASA Astrophysics Data System (ADS)

Huang, Jung; Tien, Yu-Chuan; Lin, Hsuan-Te; Liu, Tzu-Ming; Tung, Ching-Pin

2016-04-01

Climate change creates more challenges for water resources management. Due to the lack of sufficient precipitation in Taiwan in fall of 2014, many cities and counties suffered from water shortage during early 2015. Many companies in Hsinchu Science Park were significantly influenced and realized that they need a decision support tool to help them managing water resources. Therefore, a customized computer program was developed, which is capable of predicting the future status of public water supply system and water storage of factories when the water rationing is announced by the government. This program presented in this study for drought decision support (DDSS) is a customized model for a semiconductor company in the Hsinchu Science Park. The DDSS is programmed in Java which is a platform-independent language. System requirements are any PC with the operating system above Windows XP and an installed Java SE Runtime Environment 7. The DDSS serves two main functions. First function is to predict the future storage of Baoshan Reservoir and Second Baoshan Reservoir, so to determine the time point of water use restriction in Hsinchu Science Park. Second function is to use the results to help the company to make decisions to trigger their response plans. The DDSS can conduct real-time scenario simulations calculating the possible storage of water tank for each factory with pre-implementation and post-implementation of those response plans. In addition, DDSS can create reports in Excel to help decision makers to compare results between different scenarios.

Training Software in Artificial-Intelligence Computing Techniques

NASA Technical Reports Server (NTRS)

Howard, Ayanna; Rogstad, Eric; Chalfant, Eugene

2005-01-01

The Artificial Intelligence (AI) Toolkit is a computer program for training scientists, engineers, and university students in three soft-computing techniques (fuzzy logic, neural networks, and genetic algorithms) used in artificial-intelligence applications. The program promotes an easily understandable tutorial interface, including an interactive graphical component through which the user can gain hands-on experience in soft-computing techniques applied to realistic example problems. The tutorial provides step-by-step instructions on the workings of soft-computing technology, whereas the hands-on examples allow interaction and reinforcement of the techniques explained throughout the tutorial. In the fuzzy-logic example, a user can interact with a robot and an obstacle course to verify how fuzzy logic is used to command a rover traverse from an arbitrary start to the goal location. For the genetic algorithm example, the problem is to determine the minimum-length path for visiting a user-chosen set of planets in the solar system. For the neural-network example, the problem is to decide, on the basis of input data on physical characteristics, whether a person is a man, woman, or child. The AI Toolkit is compatible with the Windows 95,98, ME, NT 4.0, 2000, and XP operating systems. A computer having a processor speed of at least 300 MHz, and random-access memory of at least 56MB is recommended for optimal performance. The program can be run on a slower computer having less memory, but some functions may not be executed properly.

Cockayne syndrome and xeroderma pigmentosum

PubMed Central

Rapin, I.; Lindenbaum, Y.; Dickson, D.W.; Kraemer, K.H.; Robbins, J.H.

2015-01-01

Objectives To review genetic variants of Cockayne syndrome (CS) and xeroderma pigmentosum (XP), autosomal recessive disorders of DNA repair that affect the nervous system, and to illustrate them by the first case of xeroderma pigmentosum–Cockayne syndrome (XP-CS) complex to undergo neuropathologic examination. Methods Published reports of clinical, pathologic, and molecular studies of CS, XP neurologic disease, and the XP-CS complex were reviewed, and a ninth case of XP-CS is summarized. Results CS is a multisystem disorder that causes both profound growth failure of the soma and brain and progressive cachexia, retinal, cochlear, and neurologic degeneration, with a leukodystrophy and demyelinating neuropathy without an increase in cancer. XP presents as extreme photosensitivity of the skin and eyes with a 1000-fold increased frequency of cutaneous basal and squamous cell carcinomas and melanomas and a small increase in nervous system neoplasms. Some 20% of patients with XP incur progressive degeneration of previously normally developed neurons resulting in cortical, basal ganglia, cerebellar, and spinal atrophy, cochlear degeneration, and a mixed distal axonal neuropathy. Cultured cells from patients with CS or XP are hypersensitive to killing by ultraviolet (UV) radiation. Both CS and most XP cells have defective DNA nucleotide excision repair of actively transcribing genes; in addition, XP cells have defective repair of the global genome. There are two complementation groups in CS and seven in XP. Patients with the XP-CS complex fall into three XP complementation groups. Despite their XP genotype, six of nine individuals with the XP-CS complex, including the boy we followed up to his death at age 6, had the typical clinically and pathologically severe CS phenotype. Cultured skin and blood cells had extreme sensitivity to killing by UV radiation, DNA repair was severely deficient, post-UV unscheduled DNA synthesis was reduced to less than 5%, and post-UV plasmid mutation frequency was increased. Conclusions The paradoxical lack of parallelism of phenotype to genotype is unexplained in these disorders. Perhaps diverse mutations responsible for UV sensitivity and deficient DNA repair may also produce profound failure of brain and somatic growth, progressive cachexia and premature aging, and tissue-selective neurologic deterioration by their roles in regulation of transcription and repair of endogenous oxidative DNA damage. PMID:11185579

TFE3-Fusion Variant Analysis Defines Specific Clinicopathologic Associations Among Xp11 Translocation Cancers

PubMed Central

Argani, Pedram; Zhong, Minghao; Reuter, Victor E.; Fallon, John T.; Epstein, Jonathan I.; Netto, George J.; Antonescu, Cristina R.

2016-01-01

Xp11 translocation cancers include Xp11 translocation renal cell carcinoma (RCC), Xp11 translocation perivascular epithelioid cell tumor (PEComa), and melanotic Xp11 translocation renal cancer. In Xp11 translocation cancers, oncogenic activation of TFE3 is driven by the fusion of TFE3 with a number of different gene partners, however, the impact of individual fusion variant on specific clinicopathologic features of Xp11 translocation cancers has not been well defined. In this study, we analyze 60 Xp11 translocation cancers by fluorescence in situ hybridization (FISH) using custom BAC probes to establish their TFE3 fusion gene partner. In 5 cases RNA sequencing (RNA-seq) was also used to further characterize the fusion transcripts. The 60 Xp11 translocation cancers included 47 Xp11 translocation RCC, 8 Xp11 translocation PEComas, and 5 melanotic Xp11 translocation renal cancers. A fusion partner was identified in 53/60 (88%) cases, including 18 SFPQ (PSF), 16 PRCC, 12 ASPSCR1 (ASPL), 6 NONO, and 1 DVL2. We provide the first morphologic description of the NONO-TFE3 RCC, which frequently demonstrates sub-nuclear vacuoles leading to distinctive suprabasal nuclear palisading. Similar sub-nuclear vacuolization was also characteristic of SFPQ-TFE3 RCC, creating overlapping features with clear cell papillary RCC. We also describe the first RCC with a DVL2-TFE3 gene fusion, in addition to an extrarenal pigmented PEComa with a NONO-TFE3 gene fusion. Furthermore, among neoplasms with the SFPQ-TFE3, NONO-TFE3, DVL2-TFE3 and ASPL-TFE3 gene fusions, the RCC are almost always PAX8-positive, cathepsin K-negative by immunohistochemistry, whereas the mesenchymal counterparts (Xp11 translocation PEComas, melanotic Xp11 translocation renal cancers, and alveolar soft part sarcoma) are PAX8-negative, cathepsin K-positive. These findings support the concept that despite an identical gene fusion, the RCCs are distinct from the corresponding mesenchymal neoplasms, perhaps due to the cellular context in which the translocation occurs. We corroborate prior data showing that the PRCC-TFE3 RCC are the only known Xp11 translocation RCC molecular subtype which is consistently cathepsin K positive. In summary, our data expand further the clinicopathologic features of cancers with specific TFE3 gene fusions, and should allow for more meaningful clinicopathologic associations to be drawn. PMID:26975036

Enhanced UV light detection using a p-terphenyl wavelength shifter

NASA Astrophysics Data System (ADS)

Joosten, S.; Kaczanowicz, E.; Ungaro, M.; Rehfuss, M.; Johnston, K.; Meziani, Z.-E.

2017-10-01

UV-glass photomultiplier tubes (PMTs) have poor photon detection efficiency for wavelengths below 300 nm due to the opaqueness of the window material. Costly quartz PMTs could be used to enhance the efficiency below 300 nm. A less expensive solution that dramatically improves this efficiency is the application of a thin film of a p-terphenyl (PT) wavelength shifter on UV-glass PMTs. This improvement was quantified for Photonis XP4500B PMTs for wavelengths between 200 nm and 400 nm. The gain factor ranges up to 5 . 4 ± 0 . 5 at a wavelength of 215 nm, with a material load of 110 ± 10 μg /cm2 (894 nm). The wavelength shifter was found to be fully transparent for wavelengths greater than 300 nm. The resulting gain in detection efficiency, when used in a typical C̆erenkov counter, was estimated to be of the order of 40%. Consistent coating quality was assured by a rapid gain testing procedure using narrow-band UV LEDs. Based on these results, 200 Photonis XP4500B PMTs were treated with PT for the upgraded low-threshold C̆erenkov counter (LTCC) to be used in the CEBAF Large Acceptance Spectrometer upgraded detector (CLAS12) at the Thomas Jefferson National Accelerator Facility.

Analysis towards VMEM File of a Suspended Virtual Machine

NASA Astrophysics Data System (ADS)

Song, Zheng; Jin, Bo; Sun, Yongqing

With the popularity of virtual machines, forensic investigators are challenged with more complicated situations, among which discovering the evidences in virtualized environment is of significant importance. This paper mainly analyzes the file suffixed with .vmem in VMware Workstation, which stores all pseudo-physical memory into an image. The internal file structure of .vmem file is studied and disclosed. Key information about processes and threads of a suspended virtual machine is revealed. Further investigation into the Windows XP SP3 heap contents is conducted and a proof-of-concept tool is provided. Different methods to obtain forensic memory images are introduced, with both advantages and limits analyzed. We conclude with an outlook.

Development of the prototype data management system of the solar H-alpha full disk observation

NASA Astrophysics Data System (ADS)

Wei, Ka-Ning; Zhao, Shi-Qing; Li, Qiong-Ying; Chen, Dong

2004-06-01

The Solar Chromospheric Telescope in Yunnan Observatory generates about 2G bytes fits format data per day. Huge amounts of data will bring inconvenience for people to use. Hence, data searching and sharing are important at present. Data searching, on-line browsing, remote accesses and download are developed with a prototype data management system of the solar H-alpha full disk observation, and improved by the working flow technology. Based on Windows XP operating system and MySQL data management system, a prototype system of browse/server model is developed by JAVA and JSP. Data compression, searching, browsing, deletion need authority and download in real-time have been achieved.

JaxoDraw: A graphical user interface for drawing Feynman diagrams

NASA Astrophysics Data System (ADS)

Binosi, D.; Theußl, L.

2004-08-01

JaxoDraw is a Feynman graph plotting tool written in Java. It has a complete graphical user interface that allows all actions to be carried out via mouse click-and-drag operations in a WYSIWYG fashion. Graphs may be exported to postscript/EPS format and can be saved in XML files to be used for later sessions. One of JaxoDraw's main features is the possibility to create ? code that may be used to generate graphics output, thus combining the powers of ? with those of a modern day drawing program. With JaxoDraw it becomes possible to draw even complicated Feynman diagrams with just a few mouse clicks, without the knowledge of any programming language. Program summaryTitle of program: JaxoDraw Catalogue identifier: ADUA Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADUA Program obtainable from: CPC Program Library, Queen's University of Belfast, N. Ireland Distribution format: tar gzip file Operating system: Any Java-enabled platform, tested on Linux, Windows ME, XP, Mac OS X Programming language used: Java License: GPL Nature of problem: Existing methods for drawing Feynman diagrams usually require some 'hard-coding' in one or the other programming or scripting language. It is not very convenient and often time consuming, to generate relatively simple diagrams. Method of solution: A program is provided that allows for the interactive drawing of Feynman diagrams with a graphical user interface. The program is easy to learn and use, produces high quality output in several formats and runs on any operating system where a Java Runtime Environment is available. Number of bytes in distributed program, including test data: 2 117 863 Number of lines in distributed program, including test data: 60 000 Restrictions: Certain operations (like internal latex compilation, Postscript preview) require the execution of external commands that might not work on untested operating systems. Typical running time: As an interactive program, the running time depends on the complexity of the diagram to be drawn.

Genometa--a fast and accurate classifier for short metagenomic shotgun reads.

PubMed

Davenport, Colin F; Neugebauer, Jens; Beckmann, Nils; Friedrich, Benedikt; Kameri, Burim; Kokott, Svea; Paetow, Malte; Siekmann, Björn; Wieding-Drewes, Matthias; Wienhöfer, Markus; Wolf, Stefan; Tümmler, Burkhard; Ahlers, Volker; Sprengel, Frauke

2012-01-01

Metagenomic studies use high-throughput sequence data to investigate microbial communities in situ. However, considerable challenges remain in the analysis of these data, particularly with regard to speed and reliable analysis of microbial species as opposed to higher level taxa such as phyla. We here present Genometa, a computationally undemanding graphical user interface program that enables identification of bacterial species and gene content from datasets generated by inexpensive high-throughput short read sequencing technologies. Our approach was first verified on two simulated metagenomic short read datasets, detecting 100% and 94% of the bacterial species included with few false positives or false negatives. Subsequent comparative benchmarking analysis against three popular metagenomic algorithms on an Illumina human gut dataset revealed Genometa to attribute the most reads to bacteria at species level (i.e. including all strains of that species) and demonstrate similar or better accuracy than the other programs. Lastly, speed was demonstrated to be many times that of BLAST due to the use of modern short read aligners. Our method is highly accurate if bacteria in the sample are represented by genomes in the reference sequence but cannot find species absent from the reference. This method is one of the most user-friendly and resource efficient approaches and is thus feasible for rapidly analysing millions of short reads on a personal computer. The Genometa program, a step by step tutorial and Java source code are freely available from http://genomics1.mh-hannover.de/genometa/ and on http://code.google.com/p/genometa/. This program has been tested on Ubuntu Linux and Windows XP/7.

ClpXP-Dependent RpoS Degradation Enables Full Activation of Type III Secretion System, Amylovoran Production, and Motility in Erwinia amylovora.

PubMed

Lee, Jae Hoon; Zhao, Youfu

2017-11-01

Erwinia amylovora, the causal agent of fire blight disease of apple and pear, employs intracellular proteases, including Lon and ClpXP, for posttranslational regulation of various cellular proteins. It has been shown that Lon plays a critical role in E. amylovora virulence by directly targeting type III secretion system (T3SS) proteins and the Rcs phosphorelay system. In this study, we genetically examined the role of ClpXP and its potential interaction with Lon in E. amylovora. Mutation in clpXP diminished the expression of the T3SS, reduced exopolysaccharide amylovoran production and motility, and resulted in delayed disease progress. Western blot analyses showed highly accumulated RpoS proteins in the clpXP mutant. Moreover, mutation of rpoS in the clpXP mutant background rescued the expression of the T3SS and amylovoran production, suggesting that ClpXP-dependent RpoS degradation positively affects virulence traits. Interestingly, lack of both ClpXP and Lon resulted in significantly reduced virulence but increased expression of the T3SS and amylovoran production. However, this phenomenon was independent of RpoS accumulation, suggesting that ClpXP and Lon are indispensable for full virulence in E. amylovora.

Dynamic Contrast-Enhanced CT Characterization of Xp11.2 Translocation/TFE3 Gene Fusions versus Papillary Renal Cell Carcinomas.

PubMed

He, Jian; Zhou, Kefeng; Zhu, Bin; Zhang, Gutian; Li, Xiaogong; Guo, Hongqian; Gan, Weidong; Zhou, Zhengyang; Liu, Tian

2015-01-01

To compare the differences of CT characteristics between renal cell carcinomas (RCCs) associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 RCCs) and papillary cell renal cell carcinomas (PRCCs). CT images and clinical records of 64 patients (25 Xp11.2 RCCs, 15 type 1 and 24 type 2 PRCCs) were analyzed and compared retrospectively. Xp11.2 RCC more frequently affected young (30.7 ± 8.7 years) women (16/25, 64%) with gross hematuria (12/25, 48%), while PRCC more frequently involved middle-aged (54.8 ± 11.1 years) men (28/39, 71.8%) asymptomatically. Xp11.2 RCC tended to be heterogeneous density with some showing circular calcification. Lesion sizes of Xp11.2 RCC (5.4 ± 2.2 cm) and type 2 PRCC (5.7 ± 2.5 cm) were significantly larger than that of type 1 PRCC (3.8 ± 1.8 cm). Xp11.2 RCC contained more cystic components (22/25, 88%) than type 1 PRCC (all solid) and type 2 PRCC (9/24, 36.0%). Type 1 PRCC (13/15, 86.7%) and Xp11.2 RCC (21/25, 84.0%) showed more clear boundary than type 2 PRCC (12/24, 50.0%). CT features including diameter, boundary, attenuation, nature, and circular calcification of the tumor, combined with demographic information and symptoms, may be useful to differentiate Xp11.2 RCC from different subtypes of PRCC.

Diagnosis of adults Xp11.2 translocation renal cell carcinoma by immunohistochemistry and FISH assays: clinicopathological data from ethnic Chinese population

PubMed Central

Qu, Yuanyuan; Gu, Chengyuan; Wang, Hongkai; Chang, Kun; Yang, Xiaoqun; Zhou, Xiaoyan; Dai, Bo; Zhu, Yao; Shi, Guohai; Zhang, Hailiang; Ye, Dingwei

2016-01-01

This study aimed to assess the utility of transcription factor E3 (TFE3) break-apart fluorescence in situ hybridization (FISH) assay in diagnosis of Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) and to compare the clinicopathological features between adult Xp11.2 RCC and non-Xp11.2 RCC. 76 pathologically suspected Xp11.2 RCCs were recruited from our institution. Both TFE3 immunohistochemistry (IHC) and TFE3 FISH assay were performed for the entire cohort. The progression-free survival (PFS) and overall survival (OS) curves were estimated using the Kaplan-Meier method. FISH analysis confirmed 30 Xp11.2 RCCs, including 28 cases with positive TFE3 immunostaining and 2 cases with negative immunostaining. The false-positive and false-negative rates were 6.7% (2/30) and 4.3% (2/46), respectively, for TFE3 IHC compared with FISH assay. Xp11.2 RCC was significantly associated with higher pathological stage and Fuhrman nuclear grade compared with non-Xp11.2 RCC (P < 0.05). The median PFS and OS for TFE3 FISH-positive group were 13.0 months (95% CI, 8.4–17.6 months) and 50.0 months (95% CI, 27.6–72.4 months), respectively, while the median PFS and OS had not been reached for TFE3 FISH-negative group. In conclusion, TFE3 break-apart FISH assay is a highly useful and standard diagnostic method for Xp11.2 RCC. Adult Xp11.2 RCC is clinically aggressive and often presents at advanced stage with poor prognosis. PMID:26880493

Pseudocapsule of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: a clue for tumor enucleation?

PubMed

Cheng, Xiangming; He, Jian; Gan, Weidong; Fan, Xiangshan; Yang, Jun; Zhu, Bin; Guo, Hongqian

2015-01-01

To evaluate the feasibility and efficacy of tumor enucleation (TE) for patients with small renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 RCC) by analyzing the pseudocapsule characteristics of Xp11.2 RCCs comparing with that of clear cell renal cell carcinoma (ccRCC). From June 2007 to February 2014, 22 patients with Xp11.2 RCC who were diagnosed by fluorescence in-situ hybridization polyclonal (FISH) assay and 32 patients with ccRCC treated in our institution were comparatively studied. 12 patients with ccRCC underwent radical nephrectomy (RN) and 20 received TE. Among 22 patients with Xp11.2 RCC, 19 were treated by RN and 3 by TE (1 by radiofrequency ablation assisted TE). Pseudocapsule and other clinicopathological characteristics of the two subtypes of RCC were compared. Survival of patients treated with different surgical methods was evaluated and compared. Pseudocapsule incidence of Xp11.2 RCC (14/22, 63.6%) was lower than that of ccRCC (32/32, 100%, P<0.001). However, pseudocapsule integrity rate of Xp11.2 RCC (10/14, 71.4%) was comparable with that of ccRCC (23/32, 71.9%, P=1.000). The 5-year overall survival of patients with ccRCC treated with RN and TE was 86% and 81%, respectively (P=0.845). Three patients with small Xp11.2 RCC performed well after TE. Over half Xp11.2 RCC had pseudocapsules, whose integrity rate was comparable to that of ccRCC. Treatment effectives of TE and RN were comparable in ccRCC. A preliminary attempt to treat small Xp11.2 RCC with intact pseudocapsule by using TE produced a favorable treatment outcome.

The multislice CT findings of renal carcinoma associated with XP11.2 translocation/TFE gene fusion and collecting duct carcinoma.

PubMed

Zhu, Qing-Qiang; Wang, Zhong-Qiu; Zhu, Wen-Rong; Chen, Wen-Xin; Wu, Jing-Tao

2013-04-01

Renal cell carcinoma associated with Xp11.2 translocation and TFE gene fusion (Xp11.2/TFE RCC), and collecting duct carcinoma (CDC) are uncommon subtypes of renal cell carcinomas. To investigate the multislice CT (MSCT) characteristics of these two tumor types. Nine patients with Xp11.2/TFE RCC and 10 patients with CDC were studied retrospectively. MSCT was undertaken to investigate differences in tumor characteristics and enhancement patterns. All patients had single tumors centered in the renal medulla. Two patients with each tumor type had lymph node involvement and there was a single case of hepatic metastasis (Xp11.2/TFE RCC). The mean tumor diameter of Xp11.2/TFE RCC tumors was significantly larger than for CDC tumors. Two patients with Xp11.2/TFE RCC had cystic components as did eight patients with CDC (P < 0.05). Calcifications were present in six patients, each with CDC. Clear tumor boundaries were visible in two patients with CDC and in nine with Xp11.2/TFE RCC (P < 0.05). The density of Xp11.2/TFE RCC tumors was greater than that of CDC tumors, normal renal cortex, or medulla on unenhanced CT. Enhancement was higher with Xp11.2/TFE RCC than with CDC tumors during all phases. Xp11.2/TFE RCC enhancement was higher than in the renal medulla during cortical and medullary phase but lower than in normal renal medulla during the delayed phase. CDC tumor enhancement was lower than that for normal renal medulla during all enhanced phases. Both tumor types originated from the renal medulla. Distinguishing features included density on unenhanced CT, enhancement patterns, and capsule signs. Identifying these differences may aid diagnosis.

Validation of a TFE3 break-apart FISH assay for Xp11.2 translocation renal cell carcinomas.

PubMed

Mosquera, Juan-Miguel; Dal Cin, Paola; Mertz, Kirsten D; Perner, Sven; Davis, Ian J; Fisher, David E; Rubin, Mark A; Hirsch, Michelle S

2011-09-01

Renal cell carcinomas (RCCs) with an Xp11.2 translocation predominantly affect young patients, and can present at an advanced stage. However, more cases in older patients and incidentally detected cancers at earlier stages are also being identified. As the histology of Xp11.2 RCCs overlaps with clear cell and papillary RCCs, it is not infrequent that Xp11.2 RCCs are overlooked and misdiagnosed. The objective of this study was to validate the use of fluorescence in-situ hybridization (FISH) for identifying Xp11.2 RCCs. One hundred fifty-eight consecutive, unselected renal tumors were evaluated in tissue microarrays, including 109 clear cell RCCs, 20 papillary RCCs, 3 RCCs with mixed papillary and clear cell features, 1 Xp11.2 translocation RCC, 8 chromophobe RCCs, 10 oncocytomas, and 7 angiomyolipomas. FISH evaluation was performed blinded to karyotype data, available in about two-thirds of cases. Furthermore, conventional sections of 4 Xp11.2 RCCs, 4 RCCs with mixed papillary and clear cell features, and 4 cases of alveolar soft part sarcoma (the latter for control purposes) were also assessed by FISH. Break-apart signals were homogeneously identified throughout tumor cells in 2 cases from the tissue microarrays including 1 known Xp11.2 RCC and 1 misdiagnosed Xp11.2 RCC. All conventional sections from the Xp11.2 RCC and alveolar soft part sarcoma cases were positive for the TFE3 rearrangement by FISH. All remaining cases were negative. Our study shows the clinical application of FISH in formalin-fixed, paraffin-embedded tissue for detection of Xp11.2 translocation RCCs and other tumors with this genetic aberration.

Diagnosis of adults Xp11.2 translocation renal cell carcinoma by immunohistochemistry and FISH assays: clinicopathological data from ethnic Chinese population.

PubMed

Qu, Yuanyuan; Gu, Chengyuan; Wang, Hongkai; Chang, Kun; Yang, Xiaoqun; Zhou, Xiaoyan; Dai, Bo; Zhu, Yao; Shi, Guohai; Zhang, Hailiang; Ye, Dingwei

2016-02-16

This study aimed to assess the utility of transcription factor E3 (TFE3) break-apart fluorescence in situ hybridization (FISH) assay in diagnosis of Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) and to compare the clinicopathological features between adult Xp11.2 RCC and non-Xp11.2 RCC. 76 pathologically suspected Xp11.2 RCCs were recruited from our institution. Both TFE3 immunohistochemistry (IHC) and TFE3 FISH assay were performed for the entire cohort. The progression-free survival (PFS) and overall survival (OS) curves were estimated using the Kaplan-Meier method. FISH analysis confirmed 30 Xp11.2 RCCs, including 28 cases with positive TFE3 immunostaining and 2 cases with negative immunostaining. The false-positive and false-negative rates were 6.7% (2/30) and 4.3% (2/46), respectively, for TFE3 IHC compared with FISH assay. Xp11.2 RCC was significantly associated with higher pathological stage and Fuhrman nuclear grade compared with non-Xp11.2 RCC (P < 0.05). The median PFS and OS for TFE3 FISH-positive group were 13.0 months (95% CI, 8.4-17.6 months) and 50.0 months (95% CI, 27.6-72.4 months), respectively, while the median PFS and OS had not been reached for TFE3 FISH-negative group. In conclusion, TFE3 break-apart FISH assay is a highly useful and standard diagnostic method for Xp11.2 RCC. Adult Xp11.2 RCC is clinically aggressive and often presents at advanced stage with poor prognosis.

Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells.

PubMed

Vélez-Cruz, Renier; Zadorin, Anton S; Coin, Frédéric; Egly, Jean-Marc

2013-01-15

Specific mutations in the XPD subunit of transcription factor IIH result in combined xeroderma pigmentosum (XP)/Cockayne syndrome (CS), a severe DNA repair disorder characterized at the cellular level by a transcriptional arrest following UV irradiation. This transcriptional arrest has always been thought to be the result of faulty transcription-coupled repair. In the present study, we showed that, following UV irradiation, XP-D/CS cells displayed a gross transcriptional dysregulation compared with "pure" XP-D cells or WT cells. Furthermore, global RNA-sequencing analysis showed that XP-D/CS cells repressed the majority of genes after UV, whereas pure XP-D cells did not. By using housekeeping genes as a model, we demonstrated that XP-D/CS cells were unable to reassemble these gene promoters and thus to restart transcription after UV irradiation. Furthermore, we found that the repression of these promoters in XP-D/CS cells was not a simple consequence of deficient repair but rather an active heterochromatinization process mediated by the histone deacetylase Sirt1. Indeed, RNA-sequencing analysis showed that inhibition of and/or silencing of Sirt1 changed the chromatin environment at these promoters and restored the transcription of a large portion of the repressed genes in XP-D/CS cells after UV irradiation. Our work demonstrates that a significant part of the transcriptional arrest displayed by XP-D/CS cells arises as a result of an active repression process and not simply as a result of a DNA repair deficiency. This dysregulation of Sirt1 function that results in transcriptional repression may be the cause of various severe clinical features in patients with XP-D/CS that cannot be explained by a DNA repair defect.

Ophthalmic Manifestations of Xeroderma Pigmentosum: A Perspective from the United Kingdom.

PubMed

Lim, Rongxuan; Sethi, Mieran; Morley, Ana M S

2017-11-01

To document the ocular manifestations of xeroderma pigmentosum (XP), presenting via the United Kingdom (UK) XP service, and to analyze the correlations between XP genotype and ophthalmic phenotype. Prospective observational case series. Eighty-nine patients seen by the UK Nationally Commissioned XP Service, from April 2010 to December 2014, with a genetically confirmed diagnosis of XP. Patients underwent a full ophthalmic examination at each visit. Clinical features from both eyes were recorded on a standard proforma. The most recent assessments were analyzed. A 2-tailed Fisher exact test was used to assess for differences in ocular features between patients in XP subgroups with impaired transcription coupled nucleotide excision repair (TC-NER) (category 1: XP-A, B, D, F, and G) and preserved TC-NER (category 2: XP-C, E, and V). Lid and periocular abnormalities, ocular surface pathologies, neuro-ophthalmologic abnormalities, lens and retinal abnormalities, and visual acuity (VA). Ninety-three percent of XP patients in our cohort had ocular involvement, with 65% describing photophobia. The most common abnormalities were in the periocular skin and ocular surface, including interpalpebral conjunctival melanosis (44%) and conjunctival injection (43%). Eleven percent of patients had required treatment for periocular cancers and 2% for ocular surface cancers. The most common neuro-ophthalmologic finding was minimal pupillary reaction to light (25%). Patients in category 2 had significantly more ocular surface abnormalities than patients in category 1, including a greater proportion of conjunctival injection (P = 0.003), conjunctival corkscrew vessels (P < 0.001), corneal scarring (P = 0.01) and pingueculae under the age of 50 (P = 0.02). Meanwhile, patients in category 1 had a higher proportion of poorly reactive pupils (P < 0.001) and abnormal ocular movements (P = 0.03) compared with those in category 2. Five patients (6%) presented to ophthalmologists with ocular surface signs related to XP, before any formal diagnosis of XP was made. A large proportion of XP patients have ocular involvement. Regular examination by an ophthalmologist is essential, especially in screening for eyelid and ocular surface tumors. The ocular phenotype-genotype segregation within XP patients suggests that XP is a heterogeneous and complex disease. With further study, we hope to offer these patients more individualized patient care. Copyright © 2017 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Effects of Saccharomyces cerevisiae fermentation product on in vitro fermentation and microbial communities of low-quality forages and mixed diets.

PubMed

Mao, Hui-ling; Mao, Hua-long; Wang, J K; Liu, J X; Yoon, I

2013-07-01

Two experiments were conducted to investigate the effects of a Saccharomyces cerevisiae fermentation product (XP, Diamond V, Cedar Rapids, IA) on in vitro ruminal fermentation of single forage and mixed diets. In Exp. 1, an in vitro test was used to determine the effects of various concentrations (0, 1, 2, and 3 g/L) of XP on ruminal fermentation of the major forage sources of China (rice straw, RS; corn stover, CS; corn silage without grain, CSNG; and corn silage with grain, CSG). Total VFA reached a peak at 1 g/L XP for RS, CSNG, and CSG and increased linearly (P < 0.01) for CS. The molar proportion of acetate decreased and propionate increased linearly (P < 0.01) with an increasing amount of XP for RS, CS, and CSNG. Microbial protein (MCP) increased linearly (P < 0.01) with an increasing level of XP for RS, and it reached peak values at 1 and 2 g/L XP for CSG and CSNG, respectively. Fungi population was increased (P < 0.05) with 1 g/L XP for all forages except CSNG. The population of Ruminococcus flavefaciens increased (P < 0.05) at 1 or 2 g/L XP for RS, CSNG, and CSG. In Exp. 2, the effects of 3 concentrations of XP (0, 1, and 2 g/L) were tested on in vitro ruminal fermentation of 3 mixed diets with various ingredient combinations: 1) CSC (corn:soybean meal:corn stover = 33:22:45), 2) CSCC (corn:soybean meal:corn stover:corn silage = 33:22:22.5:22.5), and 3) CSCCA (corn:soybean meal:corn stover:corn silage:alfalfa = 33:22:19:21:5). Total VFA concentrations were influenced by diets (P < 0.01) and were enhanced linearly by increasing concentrations of XP (P < 0.01). The molar proportion of acetate was reduced (P < 0.01), but the propionate proportion was enhanced with increasing concentrations of XP (P < 0.01). Ammonia N was decreased and MCP was increased by the addition of XP (linear, P < 0.01; quadratic, P < 0.05). The fungi population was greater with XP addition (quadratic, P < 0.01). The percentage of R. albus was affected by diets (P < 0.01), the level of XP (linear and quadratic, P < 0.01), and their interaction (P < 0.01). From these 2 in vitro studies, it is inferred that the addition of XP could improve the rumen fermentation of forages and mixed diets by stimulating the number of fiber-digesting rumen microbes, especially fungi populations.

Dramatic response to nivolumab in xeroderma pigmentosum skin tumor.

PubMed

Chambon, Fanny; Osdoit, Sophie; Bagny, Kelly; Moro, Anne; Nguyen, Jacqueline; Réguerre, Yves

2018-02-01

We report the case of a 6-year-old female with xeroderma pigmentosum (XP) who developed a nonoperable scalp tumor, treated with anti-programmed cell death protein 1 (anti-PD-1) therapy (nivolumab). She presented with a sarcomatoid carcinoma of the scalp with bone lysis as well as vascular and meningeal contact. Nivolumab was initiated because it has emerged as a promising immunotherapy. We observed a dramatic tumor response with excellent tolerance. However, while on nivolumab therapy she developed two large skin melanomas and several squamous cell carcinomas, which have been resected. These results demonstrate that cancer immunotherapy in patients with XP can be impressive but complex and warrants further investigation. © 2017 Wiley Periodicals, Inc.

BSR: B-spline atomic R-matrix codes

NASA Astrophysics Data System (ADS)

Zatsarinny, Oleg

2006-02-01

BSR is a general program to calculate atomic continuum processes using the B-spline R-matrix method, including electron-atom and electron-ion scattering, and radiative processes such as bound-bound transitions, photoionization and polarizabilities. The calculations can be performed in LS-coupling or in an intermediate-coupling scheme by including terms of the Breit-Pauli Hamiltonian. New version program summaryTitle of program: BSR Catalogue identifier: ADWY Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADWY Program obtainable from: CPC Program Library, Queen's University of Belfast, N. Ireland Computers on which the program has been tested: Microway Beowulf cluster; Compaq Beowulf cluster; DEC Alpha workstation; DELL PC Operating systems under which the new version has been tested: UNIX, Windows XP Programming language used: FORTRAN 95 Memory required to execute with typical data: Typically 256-512 Mwords. Since all the principal dimensions are allocatable, the available memory defines the maximum complexity of the problem No. of bits in a word: 8 No. of processors used: 1 Has the code been vectorized or parallelized?: no No. of lines in distributed program, including test data, etc.: 69 943 No. of bytes in distributed program, including test data, etc.: 746 450 Peripherals used: scratch disk store; permanent disk store Distribution format: tar.gz Nature of physical problem: This program uses the R-matrix method to calculate electron-atom and electron-ion collision processes, with options to calculate radiative data, photoionization, etc. The calculations can be performed in LS-coupling or in an intermediate-coupling scheme, with options to include Breit-Pauli terms in the Hamiltonian. Method of solution: The R-matrix method is used [P.G. Burke, K.A. Berrington, Atomic and Molecular Processes: An R-Matrix Approach, IOP Publishing, Bristol, 1993; P.G. Burke, W.D. Robb, Adv. At. Mol. Phys. 11 (1975) 143; K.A. Berrington, W.B. Eissner, P.H. Norrington, Comput. Phys. Comm. 92 (1995) 290].

Dynamic Contrast-Enhanced CT Characterization of Xp11.2 Translocation/TFE3 Gene Fusions versus Papillary Renal Cell Carcinomas

PubMed Central

He, Jian; Zhou, Kefeng; Zhu, Bin; Zhang, Gutian; Li, Xiaogong; Guo, Hongqian; Gan, Weidong; Zhou, Zhengyang; Liu, Tian

2015-01-01

Purpose. To compare the differences of CT characteristics between renal cell carcinomas (RCCs) associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 RCCs) and papillary cell renal cell carcinomas (PRCCs). Methods. CT images and clinical records of 64 patients (25 Xp11.2 RCCs, 15 type 1 and 24 type 2 PRCCs) were analyzed and compared retrospectively. Results. Xp11.2 RCC more frequently affected young (30.7 ± 8.7 years) women (16/25, 64%) with gross hematuria (12/25, 48%), while PRCC more frequently involved middle-aged (54.8 ± 11.1 years) men (28/39, 71.8%) asymptomatically. Xp11.2 RCC tended to be heterogeneous density with some showing circular calcification. Lesion sizes of Xp11.2 RCC (5.4 ± 2.2 cm) and type 2 PRCC (5.7 ± 2.5 cm) were significantly larger than that of type 1 PRCC (3.8 ± 1.8 cm). Xp11.2 RCC contained more cystic components (22/25, 88%) than type 1 PRCC (all solid) and type 2 PRCC (9/24, 36.0%). Type 1 PRCC (13/15, 86.7%) and Xp11.2 RCC (21/25, 84.0%) showed more clear boundary than type 2 PRCC (12/24, 50.0%). Conclusion. CT features including diameter, boundary, attenuation, nature, and circular calcification of the tumor, combined with demographic information and symptoms, may be useful to differentiate Xp11.2 RCC from different subtypes of PRCC. PMID:26636097

SHINING A LIGHT ON XERODERMA PIGMENTOSUM

PubMed Central

DiGiovanna, John J.; Kraemer, Kenneth H.

2012-01-01

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair characterized by sun sensitivity and ultraviolet (UV) induced skin and mucous membrane cancers. Described in 1874 by Moriz Kaposi in Vienna, nearly 100 years later James Cleaver in San Francisco reported defective DNA repair in XP cells. This eventually provided the basis for a mechanistic link between sun exposure, DNA damage, somatic mutations and skin cancer. XP cells were found to have defects in 7 of the proteins of the nucleotide excision repair pathway and in DNA polymerase eta. XP cells are hypersensitive to killing by UV and XP cancers have characteristic “UV signature” mutations. Clinical studies at NIH found a nearly 10,000-fold increase in skin cancer in XP patients under age 20 years demonstrating the substantial importance of DNA repair in cancer prevention in the general population. About 25 % of XP patients have progressive neurological degeneration with progressive loss of neurons, probably from DNA damage induced by oxidative metabolism which kills non-dividing cells in the nervous system. Interestingly, patients with another disorder, trichothiodystrophy have defects in some of the same genes as XP but they have primary developmental abnormalities without an increase in skin cancer. PMID:22217736

The program LOPT for least-squares optimization of energy levels

NASA Astrophysics Data System (ADS)

Kramida, A. E.

2011-02-01

The article describes a program that solves the least-squares optimization problem for finding the energy levels of a quantum-mechanical system based on a set of measured energy separations or wavelengths of transitions between those energy levels, as well as determining the Ritz wavelengths of transitions and their uncertainties. The energy levels are determined by solving the matrix equation of the problem, and the uncertainties of the Ritz wavenumbers are determined from the covariance matrix of the problem. Program summaryProgram title: LOPT Catalogue identifier: AEHM_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEHM_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 19 254 No. of bytes in distributed program, including test data, etc.: 427 839 Distribution format: tar.gz Programming language: Perl v.5 Computer: PC, Mac, Unix workstations Operating system: MS Windows (XP, Vista, 7), Mac OS X, Linux, Unix (AIX) RAM: 3 Mwords or more Word size: 32 or 64 Classification: 2.2 Nature of problem: The least-squares energy-level optimization problem, i.e., finding a set of energy level values that best fits the given set of transition intervals. Solution method: The solution of the least-squares problem is found by solving the corresponding linear matrix equation, where the matrix is constructed using a new method with variable substitution. Restrictions: A practical limitation on the size of the problem N is imposed by the execution time, which scales as N and depends on the computer. Unusual features: Properly rounds the resulting data and formats the output in a format suitable for viewing with spreadsheet editing software. Estimates numerical errors resulting from the limited machine precision. Running time: 1 s for N=100, or 60 s for N=400 on a typical PC.

Xp11.2 translocation renal carcinoma with placental metastasis: a case report.

PubMed

Bovio, Ian M; Allan, Robert W; Oliai, Bahram R; Hampton, Troy; Rush, Demaretta S

2011-02-01

Renal cell carcinomas with sporadic Xp11.2 translocations are uncommon malignancies in children and young adults associated with several different reciprocal translocations involving the TFE3 gene located on chromosome Xp11.2. Placental metastases are extremely rare, with only a handful of cases reported. This study reports the case of a 20-year-old woman with an Xp11.2 translocation renal carcinoma that metastasized to the placenta. This is the first reported case of a renal cell carcinoma metastatic to the placenta and highlights the aggressive behavior of Xp11 translocation renal cell carcinomas.

Xeroderma pigmentosum in the United kingdom.

PubMed

Lehmann, Alan R

2015-01-01

The seminal discovery by James Cleaver of defective DNA repair in xeroderma pigmentosum (XP) opened up an ever-expanding field of DNA repair-related disorders. In addition, it put XP on the map and has led to improved diagnosis, care and management of affected patients. In the United Kingdom, we recently established a multidisciplinary specialist clinic for XP patients. All XP patients in the United Kingdom are able to visit the clinic where they are examined and advised by a team of specialists with detailed knowledge of the different aspects of XP. © 2014 The American Society of Photobiology.

Pseudocapsule of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: a clue for tumor enucleation?

PubMed Central

Cheng, Xiangming; He, Jian; Gan, Weidong; Fan, Xiangshan; Yang, Jun; Zhu, Bin; Guo, Hongqian

2015-01-01

Objectives: To evaluate the feasibility and efficacy of tumor enucleation (TE) for patients with small renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 RCC) by analyzing the pseudocapsule characteristics of Xp11.2 RCCs comparing with that of clear cell renal cell carcinoma (ccRCC). Methods: From June 2007 to February 2014, 22 patients with Xp11.2 RCC who were diagnosed by fluorescence in-situ hybridization polyclonal (FISH) assay and 32 patients with ccRCC treated in our institution were comparatively studied. 12 patients with ccRCC underwent radical nephrectomy (RN) and 20 received TE. Among 22 patients with Xp11.2 RCC, 19 were treated by RN and 3 by TE (1 by radiofrequency ablation assisted TE). Pseudocapsule and other clinicopathological characteristics of the two subtypes of RCC were compared. Survival of patients treated with different surgical methods was evaluated and compared. Results: Pseudocapsule incidence of Xp11.2 RCC (14/22, 63.6%) was lower than that of ccRCC (32/32, 100%, P<0.001). However, pseudocapsule integrity rate of Xp11.2 RCC (10/14, 71.4%) was comparable with that of ccRCC (23/32, 71.9%, P=1.000). The 5-year overall survival of patients with ccRCC treated with RN and TE was 86% and 81%, respectively (P=0.845). Three patients with small Xp11.2 RCC performed well after TE. Conclusions: Over half Xp11.2 RCC had pseudocapsules, whose integrity rate was comparable to that of ccRCC. Treatment effectives of TE and RN were comparable in ccRCC. A preliminary attempt to treat small Xp11.2 RCC with intact pseudocapsule by using TE produced a favorable treatment outcome. PMID:26191243

Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy.

PubMed Central

Mariani, E; Facchini, A; Honorati, M C; Lalli, E; Berardesca, E; Ghetti, P; Marinoni, S; Nuzzo, F; Astaldi Ricotti, G C; Stefanini, M

1992-01-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by photosensitivity, a high incidence of cancer in sun-exposed portions of the skin and a reduced capacity to repair the u.v.-induced DNA damage. One of the XP mutations (XP-D) has also been identified in patients affected by trichothiodystrophy (TTD), a rare autosomal recessive disease characterized by brittle hair, mental and physical retardation, peculiar face and ichthyosis. However, in these patients there is no evidence of increased skin tumour incidence. Since an impairment of cell-mediated immunity has been proposed as a co-factor in the cancer proneness of XP patients, we investigated the involvement of immune defect(s) in five XP patients, five TTD patients, their parents, and 24 TTD relatives. We evaluated the phenotype of circulating lymphocytes, natural killer (NK) cell lytic activity, target cell binding of NK cells at single cell level and the effect of interferons (IFN) alpha and beta on NK cell activity. The relative proportion of CD3+ and CD4+ circulating lymphocytes was reduced in XP but not in TTD patients. NK cell lytic activity was decreased in XP patients and their mothers, but their fathers showed normal lytic activity. NK activity varied among TTD families: four out of five patients and their relatives presented low NK cell activity, and one family was normal. In TTD family members, NK activity increased after incubation with IFN-alpha or IFN-beta, but never reached normal values. In contrast, in XP patients and their mothers, the defect was almost completely corrected after in vitro incubation with IFN-alpha or IFN-beta. Our study indicates impaired NK lytic activity in the majority of TTD and XP patients and that this defect is present also in members of their families. In addition, XP patients present a low number of circulating T cells. These multiple abnormalities, together with DNA repair defects, could be related to the increased cancer risk in XP patients. PMID:1535035

Xanthelasma Palpebrarum with Arcus Cornea: A Clinical and Biochemical Study.

PubMed

Nair, Pragya Ashok; Patel, Chaitali R; Ganjiwale, Jaishree D; Diwan, Nilofar Gulamsha; Jivani, Nidhi Bhimjibhai

2016-01-01

Xanthelasma palpebrarum (XP) is characterized by sharply demarcated yellowish flat plaques on upper and lower eyelids. It is commonly seen in women with a peak incidence at 30-50 years. It is also considered as the cutaneous marker of underlying atherosclerosis along with the disturbed lipid metabolism. XP and corneal arcus are associated with increased levels of serum cholesterol and low-density lipoprotein (LDL) cholesterol. To study the clinical pattern of XP, its relationship with lipid profile and association with arcus cornea. This study was conducted at Department of Dermatology and Opthalmology, between August 2013 and January 2015. Patients with clinical diagnosis of XP who visited skin outpatient department and willing to undergo lipid profile test and eye examination were included in the study. Data regarding demographics, clinical findings, family history, and past history were noted along with the lipid profile details. Data of age-matched healthy controls were taken for comparison. The clinical profile of the participants was presented using frequency and proportions. Gender wise analysis comparing the lipid profile in cases with XP and without XP was done using independent sample t-test. Total 49 patients of XP, 81.6% were females. Maximum, 35% patients were among 50-60 years of age and 69.4% were homemakers by occupation. The average lipid values were-cholesterol 210.57 mg%, triglyceride 123.06 mg%. LDL 142.79 mg% and VLDL 30.95 mg% among patients of XP. Arcus cornea was found in 20% cases of XP. Patients of XP requires proper investigation at the onset and regular follow-up thereafter for any altered lipid profile and early diagnosis of coronary artery disease.

Xanthelasma Palpebrarum with Arcus Cornea: A Clinical and Biochemical Study

PubMed Central

Nair, Pragya Ashok; Patel, Chaitali R; Ganjiwale, Jaishree D; Diwan, Nilofar Gulamsha; Jivani, Nidhi Bhimjibhai

2016-01-01

Background: Xanthelasma palpebrarum (XP) is characterized by sharply demarcated yellowish flat plaques on upper and lower eyelids. It is commonly seen in women with a peak incidence at 30–50 years. It is also considered as the cutaneous marker of underlying atherosclerosis along with the disturbed lipid metabolism. XP and corneal arcus are associated with increased levels of serum cholesterol and low-density lipoprotein (LDL) cholesterol. Aims and Objectives: To study the clinical pattern of XP, its relationship with lipid profile and association with arcus cornea. Materials and Methods: This study was conducted at Department of Dermatology and Opthalmology, between August 2013 and January 2015. Patients with clinical diagnosis of XP who visited skin outpatient department and willing to undergo lipid profile test and eye examination were included in the study. Data regarding demographics, clinical findings, family history, and past history were noted along with the lipid profile details. Data of age-matched healthy controls were taken for comparison. The clinical profile of the participants was presented using frequency and proportions. Gender wise analysis comparing the lipid profile in cases with XP and without XP was done using independent sample t-test. Results: Total 49 patients of XP, 81.6% were females. Maximum, 35% patients were among 50–60 years of age and 69.4% were homemakers by occupation. The average lipid values were-cholesterol 210.57 mg%, triglyceride 123.06 mg%. LDL 142.79 mg% and VLDL 30.95 mg% among patients of XP. Arcus cornea was found in 20% cases of XP. Conclusions: Patients of XP requires proper investigation at the onset and regular follow-up thereafter for any altered lipid profile and early diagnosis of coronary artery disease. PMID:27293250

Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.

PubMed

Cho, Sung Yoon; Ki, Chang-Seok; Jang, Ja-Hyun; Sohn, Young Bae; Park, Sung Won; Kim, Se Hwa; Kim, Su Jin; Jin, Dong-Kyu

2012-06-01

Patients with Xp deletions have short stature and may have some somatic traits typical of Turner syndrome (TS), whereas gonadal function is generally preserved. In most studies of these patients, microsatellites have been used to determine the break point of the Xp deletion. In the present study, we describe the clinical, cytogenetic, and chromosomal microarray (CMA) analysis of a family with an Xp22.33-Xp22.12 deletion. Two female siblings, aged 8 years 9 months and 11 years 10 months, presented with short stature. The older sibling's height (index case) was 137.9 cm (-1.81 SDS) and the younger sibling's height was 118.6 cm (-2.13 SDS). The mother and both daughters had only a short stature; a skeletal survey showed normal findings except for mildly shortened 4th and 5th metacarpal bones. No features of TS were present. The deletion appeared terminal with a breakpoint within Xp22.2 located about 19.9 Mb from the Xp telomere. The deletion contained 102 protein-coding genes. A probe of the end breakage point was located at the 19,908,986th base of the X chromosome, and a probe of the marginal normal region near the breakage point was located at the 19,910,848th base of the X chromosome. Therefore, the breakage point was concluded to be located between these two probes. In summary, we report a familial case of an Xp deletion. The findings of our study may be helpful in further analyzing the phenotypes associated with Xp deletions. Copyright © 2012 Wiley Periodicals, Inc.

[Health management system in outpatient follow-up of kidney transplantation patients].

PubMed

Zhang, Hong; Xie, Jinliang; Yao, Hui; Liu, Ling; Tan, Jianwen; Geng, Chunmi

2014-07-01

To develop a health management system for outpatient follow-up of kidney transplant patients. Access 2010 database software was used to establish the health management system for kidney transplantation patients in Windows XP operating system. Database management and post-operation follow-up of the kidney transplantation patients were realized through 6 function modules including data input, data query, data printing, questionnaire survey, data export, and follow-up management. The system worked stably and reliably, and the data input was easy and fast. The query, the counting and printing were convenient. Health management system for patients after kidney transplantation not only reduces the work pressure of the follow-up staff, but also improves the efficiency of outpatient follow-up.

Using OpenOffice as a Portable Interface to JAVA-Based Applications

NASA Astrophysics Data System (ADS)

Comeau, T.; Garrett, B.; Richon, J.; Romelfanger, F.

2004-07-01

STScI previously used Microsoft Word and Microsoft Access, a Sybase ODBC driver, and the Adobe Acrobat PDF writer, along with a substantial amount of Visual Basic, to generate a variety of documents for the internal Space Telescope Grants Administration System (STGMS). While investigating an upgrade to Microsoft Office XP, we began considering alternatives, ultimately selecting an open source product, OpenOffice.org. This reduces the total number of products required to operate the internal STGMS system, simplifies the build system, and opens the possibility of moving to a non-Windows platform. We describe the experience of moving from Microsoft Office to OpenOffice.org, and our other internal uses of OpenOffice.org in our development environment.

Modeling xeroderma pigmentosum associated neurological pathologies with patients-derived iPSCs.

PubMed

Fu, Lina; Xu, Xiuling; Ren, Ruotong; Wu, Jun; Zhang, Weiqi; Yang, Jiping; Ren, Xiaoqing; Wang, Si; Zhao, Yang; Sun, Liang; Yu, Yang; Wang, Zhaoxia; Yang, Ze; Yuan, Yun; Qiao, Jie; Izpisua Belmonte, Juan Carlos; Qu, Jing; Liu, Guang-Hui

2016-03-01

Xeroderma pigmentosum (XP) is a group of genetic disorders caused by mutations of XP-associated genes, resulting in impairment of DNA repair. XP patients frequently exhibit neurological degeneration, but the underlying mechanism is unknown, in part due to lack of proper disease models. Here, we generated patient-specific induced pluripotent stem cells (iPSCs) harboring mutations in five different XP genes including XPA, XPB, XPC, XPG, and XPV. These iPSCs were further differentiated to neural cells, and their susceptibility to DNA damage stress was investigated. Mutation of XPA in either neural stem cells (NSCs) or neurons resulted in severe DNA damage repair defects, and these neural cells with mutant XPA were hyper-sensitive to DNA damage-induced apoptosis. Thus, XP-mutant neural cells represent valuable tools to clarify the molecular mechanisms of neurological abnormalities in the XP patients.

Xeroderma pigmentosum clinical practice guidelines.

PubMed

Moriwaki, Shinichi; Kanda, Fumio; Hayashi, Masaharu; Yamashita, Daisuke; Sakai, Yoshitada; Nishigori, Chikako

2017-10-01

Xeroderma pigmentosum (XP) is a genetic photosensitive disorder in which patients are highly susceptibe to skin cancers on the sun-exposed body sites. In Japan, more than half of patients (30% worldwide) with XP show complications of idiopathic progressive, intractable neurological symptoms with poor prognoses. Therefore, this disease does not merely present with dermatological symptoms, such as photosensitivity, pigmentary change and skin cancers, but is "an intractable neurological and dermatological disease". For this reason, in March 2007, the Japanese Ministry of Health, Labor and Welfare added XP to the neurocutaneous syndromes that are subject to government research initiatives for overcoming intractable diseases. XP is one of the extremely serious photosensitive disorders in which patients easily develop multiple skin cancers if they are not completely protected from ultraviolet radiation. XP patients thus need to be strictly shielded from sunlight throughout their lives, and they often experience idiopathic neurodegenerative complications that markedly reduce the quality of life for both the patients and their families. Hospitals in Japan often see cases of XP as severely photosensitive in children, and as advanced pigmentary disorders of the sun-exposed area with multiple skin cancers in adults (aged in their 20-40s), making XP an important disease to differentiate in everyday clinical practice. It was thus decided that there was a strong need for clinical practice guidelines dedicated to XP. This process led to the creation of new clinical practice guidelines for XP. © 2017 Japanese Dermatological Association.

QDENSITY—A Mathematica Quantum Computer simulation

NASA Astrophysics Data System (ADS)

Juliá-Díaz, Bruno; Burdis, Joseph M.; Tabakin, Frank

2006-06-01

This Mathematica 5.2 package is a simulation of a Quantum Computer. The program provides a modular, instructive approach for generating the basic elements that make up a quantum circuit. The main emphasis is on using the density matrix, although an approach using state vectors is also implemented in the package. The package commands are defined in Qdensity.m which contains the tools needed in quantum circuits, e.g., multiqubit kets, projectors, gates, etc. Selected examples of the basic commands are presented here and a tutorial notebook, Tutorial.nb is provided with the package (available on our website) that serves as a full guide to the package. Finally, application is made to a variety of relevant cases, including Teleportation, Quantum Fourier transform, Grover's search and Shor's algorithm, in separate notebooks: QFT.nb, Teleportation.nb, Grover.nb and Shor.nb where each algorithm is explained in detail. Finally, two examples of the construction and manipulation of cluster states, which are part of "one way computing" ideas, are included as an additional tool in the notebook Cluster.nb. A Mathematica palette containing most commands in QDENSITY is also included: QDENSpalette.nb. Program summaryTitle of program: QDENSITY Catalogue identifier: ADXH_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADXH_v1_0 Program available from: CPC Program Library, Queen's University of Belfast, N. Ireland Operating systems: Any which supports Mathematica; tested under Microsoft Windows XP, Macintosh OS X, and Linux FC4 Programming language used: Mathematica 5.2 No. of bytes in distributed program, including test data, etc.: 180 581 No. of lines in distributed program, including test data, etc.: 19 382 Distribution format: tar.gz Method of solution: A Mathematica package is provided which contains commands to create and analyze quantum circuits. Several Mathematica notebooks containing relevant examples: Teleportation, Shor's Algorithm and Grover's search are explained in detail. A tutorial, Tutorial.nb is also enclosed. QDENSITY is available at http://www.pitt.edu/~tabakin/QDENSITY.

xPerm: fast index canonicalization for tensor computer algebra

NASA Astrophysics Data System (ADS)

Martín-García, José M.

2008-10-01

We present a very fast implementation of the Butler-Portugal algorithm for index canonicalization with respect to permutation symmetries. It is called xPerm, and has been written as a combination of a Mathematica package and a C subroutine. The latter performs the most demanding parts of the computations and can be linked from any other program or computer algebra system. We demonstrate with tests and timings the effectively polynomial performance of the Butler-Portugal algorithm with respect to the number of indices, though we also show a case in which it is exponential. Our implementation handles generic tensorial expressions with several dozen indices in hundredths of a second, or one hundred indices in a few seconds, clearly outperforming all other current canonicalizers. The code has been already under intensive testing for several years and has been essential in recent investigations in large-scale tensor computer algebra. Program summaryProgram title: xPerm Catalogue identifier: AEBH_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEBH_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 93 582 No. of bytes in distributed program, including test data, etc.: 1 537 832 Distribution format: tar.gz Programming language: C and Mathematica (version 5.0 or higher) Computer: Any computer running C and Mathematica (version 5.0 or higher) Operating system: Linux, Unix, Windows XP, MacOS RAM:: 20 Mbyte Word size: 64 or 32 bits Classification: 1.5, 5 Nature of problem: Canonicalization of indexed expressions with respect to permutation symmetries. Solution method: The Butler-Portugal algorithm. Restrictions: Multiterm symmetries are not considered. Running time: A few seconds with generic expressions of up to 100 indices. The xPermDoc.nb notebook supplied with the distribution takes approximately one and a half hours to execute in full.

Microinjection of human cell extracts corrects xeroderma pigmentosum defect.

PubMed Central

de Jonge, A J; Vermeulen, W; Klein, B; Hoeijmakers, J H

1983-01-01

Cultured fibroblasts of patients with the DNA repair syndrome xeroderma pigmentosum (XP) were injected with crude cell extracts from various human cells. Injected fibroblasts were then assayed for unscheduled DNA synthesis (UDS) to see whether the injected extract could complement their deficiency in the removal of u.v.-induced thymidine dimers from their DNA. Microinjection of extracts from repair-proficient cells (such as HeLa, placenta) and from cells belonging to XP complementation group C resulted in a temporary correction of the DNA repair defect in XP-A cells but not in cells from complementation groups C, D or F. Extracts prepared from XP-A cells were unable to correct the XP-A repair defect. The UDS of phenotypically corrected XP-A cells is u.v.-specific and can reach the level of normal cells. The XP-A correcting factor was found to be sensitive to the action of proteinase K, suggesting that it is a protein. It is present in normal cells in high amounts, it is stable on storage and can still be detected in the injected cells 8 h after injection. The microinjection assay described in this paper provides a useful tool for the purification of the XP-A (and possibly other) factor(s) involved in DNA repair. Images Fig. 1. PMID:6357782

Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.

PubMed

Stambolian, D; Lewis, R A; Buetow, K; Bond, A; Nussbaum, R

1990-07-01

Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome (MIM 302350) is a disease of unknown pathogenesis characterized by congenital cataracts and dental anomalies. We performed linkage analysis in three kindreds with NHS by using six RFLP markers between Xp11.3 and Xp22.3. Close linkage was found between NHS and polymorphic loci DXS43 (theta = 0 with lod score 2.89), DXS41 (theta = 0 with lod score 3.44), and DXS67 (theta = 0 with lod score 2.74), defined by probes pD2, p99-6, and pB24, respectively. Recombinations were found with the marker loci DXS84 (theta = .04 with lod score 4.13), DXS143 (theta = .06 with lod score 3.11) and DXS7 (theta = .09 with lod score 1.68). Multipoint linkage analysis determined the NHS locus to be linked completely to DXS41 (lod score = 7.07). Our linkage results, combined with analysis of Xp interstitial deletions, suggest that the NHS locus is located within or close to the Xp22.1-Xp22.2 region.

Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.

PubMed Central

Stambolian, D; Lewis, R A; Buetow, K; Bond, A; Nussbaum, R

1990-01-01

Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome (MIM 302350) is a disease of unknown pathogenesis characterized by congenital cataracts and dental anomalies. We performed linkage analysis in three kindreds with NHS by using six RFLP markers between Xp11.3 and Xp22.3. Close linkage was found between NHS and polymorphic loci DXS43 (theta = 0 with lod score 2.89), DXS41 (theta = 0 with lod score 3.44), and DXS67 (theta = 0 with lod score 2.74), defined by probes pD2, p99-6, and pB24, respectively. Recombinations were found with the marker loci DXS84 (theta = .04 with lod score 4.13), DXS143 (theta = .06 with lod score 3.11) and DXS7 (theta = .09 with lod score 1.68). Multipoint linkage analysis determined the NHS locus to be linked completely to DXS41 (lod score = 7.07). Our linkage results, combined with analysis of Xp interstitial deletions, suggest that the NHS locus is located within or close to the Xp22.1-Xp22.2 region. PMID:1971992

An effective algorithm for calculating the Chandrasekhar function

NASA Astrophysics Data System (ADS)

Jablonski, A.

2012-08-01

Numerical values of the Chandrasekhar function are needed with high accuracy in evaluations of theoretical models describing electron transport in condensed matter. An algorithm for such calculations should be possibly fast and also accurate, e.g. an accuracy of 10 decimal digits is needed for some applications. Two of the integral representations of the Chandrasekhar function are prospective for constructing such an algorithm, but suitable transformations are needed to obtain a rapidly converging quadrature. A mixed algorithm is proposed in which the Chandrasekhar function is calculated from two algorithms, depending on the value of one of the arguments. Catalogue identifier: AEMC_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEMC_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 567 No. of bytes in distributed program, including test data, etc.: 4444 Distribution format: tar.gz Programming language: Fortran 90 Computer: Any computer with a FORTRAN 90 compiler Operating system: Linux, Windows 7, Windows XP RAM: 0.6 Mb Classification: 2.4, 7.2 Nature of problem: An attempt has been made to develop a subroutine that calculates the Chandrasekhar function with high accuracy, of at least 10 decimal places. Simultaneously, this subroutine should be very fast. Both requirements stem from the theory of electron transport in condensed matter. Solution method: Two algorithms were developed, each based on a different integral representation of the Chandrasekhar function. The final algorithm is edited by mixing these two algorithms and by selecting ranges of the argument ω in which performance is the fastest. Restrictions: Two input parameters for the Chandrasekhar function, x and ω (notation used in the code), are restricted to the range: 0⩽x⩽1 and 0⩽ω⩽1, which is sufficient in numerous applications. Unusual features: The program uses the Romberg quadrature for integration. This quadrature is applicable to integrands that satisfy several requirements (the integrand does not vary rapidly and does not change sign in the integration interval; furthermore, the integrand is finite at the endpoints). Consequently, the analyzed integrands were transformed so that these requirements were satisfied. In effect, one can conveniently control the accuracy of integration. Although the desired fractional accuracy was set at 10-10, the obtained accuracy of the Chandrasekhar function was much higher, typically 13 decimal places. Running time: Between 0.7 and 5 milliseconds for one pair of arguments of the Chandrasekhar function.

Enhanced UV light detection using a p-terphenyl wavelength shifter

DOE Office of Scientific and Technical Information (OSTI.GOV)

Joosten, Sylvester J.; Kaczanowicz, Ed; Ungaro, Maurizio

Here, UV-glass photomultiplier tubes (PMTs) have poor photon detection efficiency for wavelengths belowmore » $$300\\,\\text{nm}$$ due to the opaqueness of the window material. Costly quartz PMTs could be used to enhance the efficiency below $$300\\,\\text{nm}$$. A less expensive solution that dramatically improves this efficiency is the application of a thin film of a p-terphenyl (PT) wavelength shifter on UV-glass PMTs. This improvement was quantified for Photonis XP4500B PMTs for wavelengths between $$200\\,\\text{nm}$$ and $$400\\,\\text{nm}$$. The gain factor ranges up to 5.4 $$\\pm$$ 0.5 at a wavelength of $$215\\,\\text{nm}$$, with a material load of $$110\\pm10\\,\\mu\\text{g}/\\text{cm}^2$$ ($$894\\,\\text{nm}$$). The wavelength shifter was found to be fully transparent for wavelengths greater than $$300\\,\\text{nm}$$. The resulting gain in detection efficiency, when used in a typical Cherenkov counter, was estimated to be of the order of 40%. Consistent coating quality was assured by a rapid gain testing procedure using narrow-band UV LEDs. Based on these results, 200 Photonis XP4500B PMTs were treated with PT for the upgraded low-threshold Cherenkov counter (LTCC) to be used in the CEBAF Large Acceptance Spectrometer upgraded detector (CLAS12) at the Thomas Jefferson National Accelerator Facility.« less

Enhanced UV light detection using a p-terphenyl wavelength shifter

DOE PAGES

Joosten, Sylvester J.; Kaczanowicz, Ed; Ungaro, Maurizio; ...

2017-07-25

Here, UV-glass photomultiplier tubes (PMTs) have poor photon detection efficiency for wavelengths belowmore » $$300\\,\\text{nm}$$ due to the opaqueness of the window material. Costly quartz PMTs could be used to enhance the efficiency below $$300\\,\\text{nm}$$. A less expensive solution that dramatically improves this efficiency is the application of a thin film of a p-terphenyl (PT) wavelength shifter on UV-glass PMTs. This improvement was quantified for Photonis XP4500B PMTs for wavelengths between $$200\\,\\text{nm}$$ and $$400\\,\\text{nm}$$. The gain factor ranges up to 5.4 $$\\pm$$ 0.5 at a wavelength of $$215\\,\\text{nm}$$, with a material load of $$110\\pm10\\,\\mu\\text{g}/\\text{cm}^2$$ ($$894\\,\\text{nm}$$). The wavelength shifter was found to be fully transparent for wavelengths greater than $$300\\,\\text{nm}$$. The resulting gain in detection efficiency, when used in a typical Cherenkov counter, was estimated to be of the order of 40%. Consistent coating quality was assured by a rapid gain testing procedure using narrow-band UV LEDs. Based on these results, 200 Photonis XP4500B PMTs were treated with PT for the upgraded low-threshold Cherenkov counter (LTCC) to be used in the CEBAF Large Acceptance Spectrometer upgraded detector (CLAS12) at the Thomas Jefferson National Accelerator Facility.« less

A Maple package for improved global mapping forecast

NASA Astrophysics Data System (ADS)

Carli, H.; Duarte, L. G. S.; da Mota, L. A. C. P.

2014-03-01

We present a Maple implementation of the well known global approach to time series analysis and some further developments designed to improve the computational efficiency of the forecasting capabilities of the approach. This global approach can be summarized as being a reconstruction of the phase space, based on a time ordered series of data obtained from the system. After that, using the reconstructed vectors, a portion of this space is used to produce a mapping, a polynomial fitting, through a minimization procedure, that represents the system and can be employed to forecast further entries for the series. In the present implementation, we introduce a set of commands, tools, in order to perform all these tasks. For example, the command VecTS deals mainly with the reconstruction of the vector in the phase space. The command GfiTS deals with producing the minimization and the fitting. ForecasTS uses all these and produces the prediction of the next entries. For the non-standard algorithms, we here present two commands: IforecasTS and NiforecasTS that, respectively deal with the one-step and the N-step forecasting. Finally, we introduce two further tools to aid the forecasting. The commands GfiTS and AnalysTS, basically, perform an analysis of the behavior of each portion of a series regarding the settings used on the commands just mentioned above. Catalogue identifier: AERW_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AERW_v1_0.html Program obtainable from: CPC Program Library, Queen’s University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 3001 No. of bytes in distributed program, including test data, etc.: 95018 Distribution format: tar.gz Programming language: Maple 14. Computer: Any capable of running Maple Operating system: Any capable of running Maple. Tested on Windows ME, Windows XP, Windows 7. RAM: 128 MB Classification: 4.3, 4.9, 5 Nature of problem: Time series analysis and improving forecast capability. Solution method: The method of solution is partially based on a result published in [1]. Restrictions: If the time series that is being analyzed presents a great amount of noise or if the dynamical system behind the time series is of high dimensionality (Dim≫3), then the method may not work well. Unusual features: Our implementation can, in the cases where the dynamics behind the time series is given by a system of low dimensionality, greatly improve the forecast. Running time: This depends strongly on the command that is being used. References: [1] Barbosa, L.M.C.R., Duarte, L.G.S., Linhares, C.A. and da Mota, L.A.C.P., Improving the global fitting method on nonlinear time series analysis, Phys. Rev. E 74, 026702 (2006).

Construction of SO(5)⊃SO(3) spherical harmonics and Clebsch-Gordan coefficients

NASA Astrophysics Data System (ADS)

Caprio, M. A.; Rowe, D. J.; Welsh, T. A.

2009-07-01

The SO(5)⊃SO(3) spherical harmonics form a natural basis for expansion of nuclear collective model angular wave functions. They underlie the recently-proposed algebraic method for diagonalization of the nuclear collective model Hamiltonian in an SU(1,1)×SO(5) basis. We present a computer code for explicit construction of the SO(5)⊃SO(3) spherical harmonics and use them to compute the Clebsch-Gordan coefficients needed for collective model calculations in an SO(3)-coupled basis. With these Clebsch-Gordan coefficients it becomes possible to compute the matrix elements of collective model observables by purely algebraic methods. Program summaryProgram title: GammaHarmonic Catalogue identifier: AECY_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AECY_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 346 421 No. of bytes in distributed program, including test data, etc.: 16 037 234 Distribution format: tar.gz Programming language: Mathematica 6 Computer: Any which supports Mathematica Operating system: Any which supports Mathematica; tested under Microsoft Windows XP and Linux Classification: 4.2 Nature of problem: Explicit construction of SO(5) ⊃ SO(3) spherical harmonics on S. Evaluation of SO(3)-reduced matrix elements and SO(5) ⊃ SO(3) Clebsch-Gordan coefficients (isoscalar factors). Solution method: Construction of SO(5) ⊃ SO(3) spherical harmonics by orthonormalization, obtained from a generating set of functions, according to the method of Rowe, Turner, and Repka [1]. Matrix elements and Clebsch-Gordan coefficients follow by construction and integration of SO(3) scalar products. Running time: Depends strongly on the maximum SO(5) and SO(3) representation labels involved. A few minutes for the calculation in the Mathematica notebook. References: [1] D.J. Rowe, P.S. Turner, J. Repka, J. Math. Phys. 45 (2004) 2761.

Repair Mechanism of UV-damaged DNA in Xeroderma Pigmentosum | Center for Cancer Research

Cancer.gov

Xeroderma pigmentosum (XP) is a rare, inherited disorder characterized by extreme skin sensitivity to ultraviolet (UV) rays from sunlight. XP is caused by mutations in genes involved in nucleotide excision repair (NER) of damaged DNA. Normal cells are usually able to fix this damage before it leads to problems; however, the DNA damage is not repaired normally in patients with XP. As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die. XP patients have more than a 10,000-fold increased risk of developing skin cancer. Kenneth Kraemer, M.D., in CCR’s Dermatology Branch, has been studying XP patients at the Clinical Center for more than 40 years.

Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms.

PubMed

Matsumura, Y; Nishigori, C; Yagi, T; Imamura, S; Takebe, H

1998-06-01

Xeroderma pigmentosum (XP) complementation group F was first reported in Japan and most XP-F patients reported to date are Japanese. The clinical features of XP-F patients are rather mild, including late onset of skin cancer. Recently a cDNA that corrects the repair deficiency of cultured XP-F cells was isolated. The XPF protein forms a tight complex with ERCC1 and this complex functions as a structure-specific endonuclease responsible for the 5' incision during DNA excision repair. Here we have identified XPF mRNA mutations and examined levels of the mRNA and protein expression in seven primary cell strains from Japanese XP-F patients. The XP-F cell strains were classified into three types in terms of the effect of the mutation on the predicted protein; (i) XPF proteins with amino acid substitutions; (ii) amino acid substituted and truncated XPF proteins; and (iii) truncated XPF protein only. A normal level of expression of XPF mRNA was observed in XP-F cells but XPF protein was extremely low. These results indicate that the detected mutations lead to unstable XPF protein, resulting in a decrease in formation of the ERCC1-XPF endonuclease complex. Slow excision repair of UV-induced DNA damage due to low residual endonuclease activity provides a plausible explanation for the typical mild phenotype of XP-F patients.

Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure.

PubMed

Bowden, Nikola A; Beveridge, Natalie J; Ashton, Katie A; Baines, Katherine J; Scott, Rodney J

2015-07-14

Children with the recessive genetic disorder Xeroderma Pigmentosum (XP) have extreme sensitivity to UV-light, a 10,000-fold increase in skin cancers from age 2 and rarely live beyond 30 years. There are seven genetic subgroups of XP, which are all resultant of pathogenic mutations in genes in the nucleotide excision repair (NER) pathway and a XP variant resultant of a mutation in translesion synthesis, POLH. The clinical symptoms and severity of the disease is varied across the subgroups, which does not correlate with the functional position of the affected protein in the NER pathway. The aim of this study was to further understand the biology of XP subgroups, particularly those that manifest with neurological symptoms. Whole genome gene expression profiling of fibroblasts from each XP complementation group was assessed before and after UV-light exposure. The biological pathways with altered gene expression after UV-light exposure were distinct for each subtype and contained oncogenic related functions such as perturbation of cell cycle, apoptosis, proliferation and differentiation. Patients from the subgroups XP-B and XP-F were the only subgroups to have transcripts associated with neuronal activity altered after UV-light exposure. This study will assist in furthering our understanding of the different subtypes of XP which will lead to better diagnosis, treatment and management of the disease.

Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure

PubMed Central

Bowden, Nikola A.; Beveridge, Natalie J.; Ashton, Katie A.; Baines, Katherine J.; Scott, Rodney J.

2015-01-01

Children with the recessive genetic disorder Xeroderma Pigmentosum (XP) have extreme sensitivity to UV-light, a 10,000-fold increase in skin cancers from age 2 and rarely live beyond 30 years. There are seven genetic subgroups of XP, which are all resultant of pathogenic mutations in genes in the nucleotide excision repair (NER) pathway and a XP variant resultant of a mutation in translesion synthesis, POLH. The clinical symptoms and severity of the disease is varied across the subgroups, which does not correlate with the functional position of the affected protein in the NER pathway. The aim of this study was to further understand the biology of XP subgroups, particularly those that manifest with neurological symptoms. Whole genome gene expression profiling of fibroblasts from each XP complementation group was assessed before and after UV-light exposure. The biological pathways with altered gene expression after UV-light exposure were distinct for each subtype and contained oncogenic related functions such as perturbation of cell cycle, apoptosis, proliferation and differentiation. Patients from the subgroups XP-B and XP-F were the only subgroups to have transcripts associated with neuronal activity altered after UV-light exposure. This study will assist in furthering our understanding of the different subtypes of XP which will lead to better diagnosis, treatment and management of the disease. PMID:26184184

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

PubMed Central

Weeda, G; Eveno, E; Donker, I; Vermeulen, W; Chevallier-Lagente, O; Taïeb, A; Stary, A; Hoeijmakers, J H; Mezzina, M; Sarasin, A

1997-01-01

Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair and nails, mental retardation, impaired sexual development, and ichthyosis. Photosensitivity has been reported in approximately 50% of the cases, but no skin cancer is associated with TTD. Virtually all photosensitive TTD patients have a deficiency in the nucleotide excision repair (NER) of UV-induced DNA damage that is indistinguishable from that of xeroderma pigmentosum (XP) complementation group D (XP-D) patients. DNA repair defects in XP-D are associated with two additional, quite different diseases; XP, a sun-sensitive and cancer-prone repair disorder, and Cockayne syndrome (CS), a photosensitive condition characterized by physical and mental retardation and wizened facial appearance. One photosensitive TTD case constitutes a new repair-deficient complementation group, TTD-A. Remarkably, both TTD-A and XP-D defects are associated with subunits of TFIIH, a basal transcription factor with a second function in DNA repair. Thus, mutations in TFIIH components may, on top of a repair defect, also cause transcriptional insufficiency, which may explain part of the non-XP clinical features of TTD. Besides XPD and TTDA, the XPB gene product is also part of TFIIH. To date, three patients with the remarkable conjunction of XP and CS but not TTD have been assigned to XP complementation group B (XP-B). Here we present the characterization of the NER defect in two mild TTD patients (TTD6VI and TTD4VI) and confirm the assignment to X-PB. The causative mutation was found to be a single base substitution resulting in a missense mutation (T119P) in a region of the XPB protein completely conserved in yeast, Drosophila, mouse, and man. These findings define a third TTD complementation group, extend the clinical heterogeneity associated with XP-B, stress the exclusive relationship between TTD and mutations in subunits of repair/transcription factor TFIIH, and strongly support the concept of "transcription syndromes." Images Figure 6 PMID:9012405

Clinicopathologic Characteristics and Prognosis of Xp11.2 Translocation Renal Cell Carcinoma: Multicenter, Propensity Score Matching Analysis.

PubMed

Choo, Min Soo; Jeong, Chang Wook; Song, Cheryn; Jeon, Hwang Gyun; Seo, Seong Il; Hong, Sung Kyu; Byun, Seok-Soo; Chung, Jin Soo; Hong, Sung-Hoo; Hwang, Eu Chang; Kim, Hyeon Hoe; Kwak, Cheol

2017-10-01

We evaluated the clinicopathologic characteristics and prognosis of Xp11.2 translocation (Xp11.2t) renal cell carcinoma (RCC) from a multicenter study and compare them with clear-cell RCC using a propensity score matching analysis. Between 2004 and 2013, 8384 consecutive patients from 7 institutions who were diagnosed with RCC were reviewed, and the pathologically confirmed Xp11.2t cases were enrolled. The oncological outcomes of Xp11.2t were compared with those of clear-cell RCC by selecting matched cases using 1:3 propensity score matching methods in a precollected clear-cell RCC data set from our hospital. The patients were divided into 2 subgroups on the basis of age of onset, either before (early) or after (late) 45 years old. Xp11.2t was found in 61 cases, corresponding to 0.72% of RCC cases for the 10 years. The mean age was 38.2 ± 19.4 years, and the mean tumor size was 6.2 ± 3.9 cm. The Xp11.2t cases were at more advanced stages and showed tendencies to involve lymph nodes at diagnosis. After the matching, there were no significant differences in recurrence-free and overall survival compared with clear-cell RCC. The age of incidence for Xp11.2t had a bimodal distribution, which was most common in the 30s and smaller peak in the 60s. Xp11.2t corresponded to a significantly worse prognosis for overall survival in late onset (after 45 years) subgroup (P = .038; hazard ratio, 3.199; 95% confidence interval, 1.065-9.609). This neoplasm has more aggressive clinicopathologic features at diagnosis. In older patients with onset age > 45 years, Xp11.2t showed a significantly worse prognosis than clear-cell RCC. Copyright © 2017 Elsevier Inc. All rights reserved.

Preclinical Corrective Gene Transfer in Xeroderma Pigmentosum Human Skin Stem Cells

PubMed Central

Warrick, Emilie; Garcia, Marta; Chagnoleau, Corinne; Chevallier, Odile; Bergoglio, Valérie; Sartori, Daniela; Mavilio, Fulvio; Angulo, Jaime F; Avril, Marie-Françoise; Sarasin, Alain; Larcher, Fernando; Del Rio, Marcela; Bernerd, Françoise; Magnaldo, Thierry

2012-01-01

Xeroderma pigmentosum (XP) is a devastating disease associated with dramatic skin cancer proneness. XP cells are deficient in nucleotide excision repair (NER) of bulky DNA adducts including ultraviolet (UV)-induced mutagenic lesions. Approaches of corrective gene transfer in NER-deficient keratinocyte stem cells hold great hope for the long-term treatment of XP patients. To face this challenge, we developed a retrovirus-based strategy to safely transduce the wild-type XPC gene into clonogenic human primary XP-C keratinocytes. De novo expression of XPC was maintained in both mass population and derived independent candidate stem cells (holoclones) after more than 130 population doublings (PD) in culture upon serial propagation (>1040 cells). Analyses of retrovirus integration sequences in isolated keratinocyte stem cells suggested the absence of adverse effects such as oncogenic activation or clonal expansion. Furthermore, corrected XP-C keratinocytes exhibited full NER capacity as well as normal features of epidermal differentiation in both organotypic skin cultures and in a preclinical murine model of human skin regeneration in vivo. The achievement of a long-term genetic correction of XP-C epidermal stem cells constitutes the first preclinical model of ex vivo gene therapy for XP-C patients. PMID:22068429

Defects in antioxidant defense and calcium transport in the epidermis of xeroderma pigmentosum patients.

PubMed

Schallreuter, K U; Pittelkow, M R; Wood, J M

1991-01-01

A comparative study of the antioxidant enzymes superoxide dismutase, catalase, glutathione reductase and thioredoxin reductase was undertaken in two families with xeroderma pigmentosum (XP) and in healthy controls of corresponding skin phototypes. Epidermal blister roofs obtained from the XP patients revealed significant decreases in catalase, thioredoxin reductase, and superoxide dismutase, but glutathione reductase was unaffected. In addition, keratinocytes established from XP patients contained a significantly higher than normal intracellular calcium concentration compared with control cells from a corresponding skin type. Keratinocytes established from an XP obligate heterozygote revealed intermediate levels of calcium between XP homozygotes and controls. Previously high intracellular calcium has been shown to compromise the redox status of keratinocytes by allosteric inhibition of the thioredoxin reductase/thioredoxin electron transfer system. In XP homozygous keratinocytes from sun-exposed epidermis, the intracellular concentration of reduced thioredoxin was decreased to 50% compared with these cells from unexposed skin. Taken together, the results from this study indicate that the epidermis in XP patients lacks effective defense against free radicals and peroxides. In addition to the well-established defect in the normal rates of unscheduled DNA repair, these findings provide an even better explanation for the multiple cutaneous neoplasms in these patients.

MEMS analog light processing: an enabling technology for adaptive optical phase control

NASA Astrophysics Data System (ADS)

Gehner, Andreas; Wildenhain, Michael; Neumann, Hannes; Knobbe, Jens; Komenda, Ondrej

2006-01-01

Various applications in modern optics are demanding for Spatial Light Modulators (SLM) with a true analog light processing capability, e.g. the generation of arbitrary analog phase patterns for an adaptive optical phase control. For that purpose the Fraunhofer IPMS has developed a high-resolution MEMS Micro Mirror Array (MMA) with an integrated active-matrix CMOS address circuitry. The device provides 240 x 200 piston-type mirror elements with 40 μm pixel size, where each of them can be addressed and deflected independently at an 8bit height resolution with a vertical analog deflection range of up to 400 nm suitable for a 2pi phase modulation in the visible. Full user programmability and control is provided by a newly developed comfortable driver software for Windows XP based PCs supporting both a Graphical User Interface (GUI) for stand-alone operation with pre-defined data patterns as well as an open ActiveX programming interface for a direct data feed-through within a closed-loop environment. High-speed data communication is established by an IEEE1394a FireWire interface together with an electronic driving board performing the actual MMA programming and control at a maximum frame rate of up to 500 Hz. Successful application demonstrations have been given in eye aberration correction, coupling efficiency optimization into a monomode fiber, ultra-short laser pulse modulation and diffractive beam shaping. Besides a presentation of the basic device concept the paper will give an overview of the obtained results from these applications.

[Differential diagnosis between renal cell carcinoma associated with XP11.2 translocation/TFE gene fusion and papillary renal cell carcinoma based on CT and MRI findings].

PubMed

Zhu, Qingqiang; Zhu, Wenrong; Wu, Jingtao; Fu, Jianxiong; Chen, Wenxin; Wang, Zhongqiu

2014-05-20

To comparative study of CT and MRI appearances in renal cell carcinoma associated with XP11.2 translocation/TFE gene fusion (XP11.2 RCC) and papillary renal cell carcinoma (PRCC). 12 patients with XP11.2 RCC and 18 patients with PRCC were retrospectively studied, and the data was analyzed by AVONA and chi-square text. 12 patients with XP11.2 RCC and 18 patients with PRCC, cystic components (2 vs 11, P < 0.05), calcification (0 vs 6, P < 0.05), hemorrhage (9 vs 5, P < 0.05), homogeneous enhancement (10 vs 7, P < 0.05) and had lymph node (3 vs 0) or hepatic metastasis (1vs 0) (P < 0.05). On unenhanced CT, the density of XP11.2 RCC was greater than PRCC, normal renal cortex or medulla (P < 0.05). Their degree of enhancement were less than normal renal cortex on all enhanced phases (P < 0.05). The enhancement degree of XP11.2 RCC was higher than PRCC (on all phases) and renal medulla (on cortical and medullary phase) (P < 0.05), but less than normal renal medulla on the delayed phase (P < 0.05). The enhancement degree of PRCC was lower than renal medulla on all phases (P < 0.05). The XP11.2 RCC was isointense on T1-weighted imaging, hypointense on T2-weighted imaging. The PRCC was isointense or hypointense on T1-weighted imaging, isointense on T2-weighted imaging. The CT and MRI could show imagings features of XP11.2 RCC and PRCC, and these features were helpful in predicting a specific subtype of renal cell carcinoma.

Xp11.2 translocation renal cell carcinoma with PSF-TFE3 rearrangement.

PubMed

Zhong, Minghao; Weisman, Paul; Zhu, Bing; Brassesco, Maria; Yang, Youfeng; Linehan, W Marston; Merino, Maria J; Zhang, David; Rohan, Stephen; Cai, Dongming; Yang, Ximing

2013-06-01

Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) is a subtype of RCC characterized by translocations involving a breakpoint at the TFE3 gene (Xp11.2). Moderate to strong nuclear TFE3 immunoreactivity has been recognized as a specific diagnostic marker for this type of tumor. However, exclusive cytoplasmic localization of a TFE3 fusion protein was reported in UOK 145 cells, a cell line derived from an Xp11.2 RCC harboring the PSF-TFE3 translocation. If reproducible using immunohistochemistry (IHC), this finding would have important implications for pathologists in the diagnosis of Xp11.2 RCC, calling into question the specificity of nuclear immunoreactivity for TFE3 in these tumors. The purpose of this study was to determine whether the above-noted cytoplasmic localization of the TFE3 fusion protein could be reproduced using IHC. UOK 145 cells and fresh frozen tissue from 2 clinical cases of Xp11.2 RCC found to harbor the PSF-TFE3 gene rearrangement (by cytogenetic testing) were collected. All samples were subjected to histopathologic evaluation by board-certified pathologists, TFE3 IHC, reverse transcription polymerase chain reaction, and Sanger sequencing analysis. A strong nuclear TFE3 immunoreactivity was demonstrated in all samples including the UOK 145 cell line. No cytoplasmic immunoreactivity was seen. Reverse transcription polymerase chain reaction and Sanger sequencing confirmed the previously reported PSF-TFE3 gene fusion between exon 9 of PSF and exon 6 of TFE3 in the UOK 145 cell line and in one of 2 clinical cases of Xp11.2 RCC. A novel PSF-TFE3 gene fusion between exon 9 of PSF and exon 5 of TFE3 was detected in the second clinical case of Xp11.2 RCC.

Xeroderma pigmentosum complementation group F: Report of a case and review of Japanese patients.

PubMed

Tofuku, Yukari; Nobeyama, Yoshimasa; Kamide, Ryoichi; Moriwaki, Shinichi; Nakagawa, Hidemi

2015-09-01

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by extraordinary sensitivity to sunlight, resulting in cutaneous malignant tumors. Among XP, XP-F presents relatively uniquely in Japanese. To clarify the characteristics of this group, we describe a case of XP-F and review Japanese cases previously reported. A 50-year-old Japanese woman was referred to us with multiple, variously sized, light- or dark-brown macules on the face and sunlight-exposed extremities. She had experienced bulla formation with approximately 10 min of sunlight exposure during her elementary school years. Her parents had been first cousins, and her mother and sister had photosensitivity. She showed no neurological or developmental abnormalities. Ultraviolet (UV) irradiation testing revealed normal levels for minimal erythema dose with UV-A and UV-B. Sensitivity to UV-C and DNA repair ability in the patient's fibroblasts were indicated between that in normal individuals and that in an XP-A patient. Complementation assay revealed that transfection of the XPF gene led most efficient DNA repair compared with the other XP genes. Therefore, the patient was diagnosed with XP-F. Twenty-three cases of Japanese patients (six males, 17 females) with XP-F have been reported, including the present case. Our review suggested a relatively high prevalence of 50% (11/22) for cutaneous malignant tumors. A significant difference was evident in the mean age at first medical consultation between patients with cutaneous malignant tumors (53.6 years) and patients without such tumors (30.8 years). This suggests that cutaneous malignant tumors could occur in the age range of 30-50 years in XP-F patients. © 2015 Japanese Dermatological Association.

A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome

PubMed Central

Moriel-Carretero, María; Herrera-Moyano, Emilia; Aguilera, Andrés

2015-01-01

Nucleotide Excision Repair (NER) is a pathway that removes lesions distorting the DNA helix. The molecular basis of the rare diseases Xeroderma pigmentosum (XP) and Cockayne Syndrome (CS) are explained based on the defects happening in 2 NER branches: Global-Genome Repair and Transcription-Coupled Repair, respectively. Nevertheless, both afflictions sporadically occur together, giving rise to XP/CS; however, the molecular basis of XP/CS is not understood very well. Many efforts have been made to clarify why mutations in only 4 NER genes, namely XPB, XPD, XPF and XPG, are the basis of this disease. Effort has also been made to unravel why mutations within these genes lead to XP, XP/CS, or other pathologies. We have recently contributed to the disclosure of this puzzle by characterizing Rad3/XPD mutations in Saccharomyces cerevisiae and human cells. Based on our, and others', observations, we propose a model compatible with all XP/CS cases and the current bibliography. PMID:26460500

Quantitative analysis of brain atrophy in patients with xeroderma pigmentosum group A carrying the founder mutation in Japan.

PubMed

Ueda, Takehiro; Kanda, Fumio; Nishiyama, Masahiro; Nishigori, Chikako; Toda, Tatsushi

2017-10-15

Xeroderma pigmentosum (XP) is an inherited congenital disease presenting with dermatological and neurological manifestations. In Japan, XP complementation group A (XP-A) is most frequently observed in eight clinical subtypes, and the homozygous founder mutation, IVS3-1G>C in XPA, suffer from severe manifestations including progressive brain atrophy since childhood. In this study, we used magnetic resonance imaging (MRI) and applied volumetric analysis to elucidate the start and the progression of the brain atrophy in these patients. Twelve Japanese patients with XP-A carrying the founder mutation and seven controls were included. MRI was performed for each patient once or more. Three-dimensional T1 weighted images were segmented to gray matter, white matter, and cerebrospinal fluid, and each volume was calculated. Conventional MRI demonstrated progressive whole brain atrophy in patients with XP-A. Moreover, volumetric analysis showed that reductions of total gray matter volumes (GMV) and total brain volumes (TBV) started at the age of five. The slope of reduction was similar in all cases. The GMV and TBV values in controls were higher than those in XP-A cases after the age of five. This is the first quantitative report presenting with the progression of brain atrophy in patients with XP-A. It is revealed that the brain atrophy started from early childhood in Japanese patients with XP-A carrying the homozygous founder mutation. Copyright © 2017 Elsevier B.V. All rights reserved.

Massively parallel quantum computer simulator

NASA Astrophysics Data System (ADS)

De Raedt, K.; Michielsen, K.; De Raedt, H.; Trieu, B.; Arnold, G.; Richter, M.; Lippert, Th.; Watanabe, H.; Ito, N.

2007-01-01

We describe portable software to simulate universal quantum computers on massive parallel computers. We illustrate the use of the simulation software by running various quantum algorithms on different computer architectures, such as a IBM BlueGene/L, a IBM Regatta p690+, a Hitachi SR11000/J1, a Cray X1E, a SGI Altix 3700 and clusters of PCs running Windows XP. We study the performance of the software by simulating quantum computers containing up to 36 qubits, using up to 4096 processors and up to 1 TB of memory. Our results demonstrate that the simulator exhibits nearly ideal scaling as a function of the number of processors and suggest that the simulation software described in this paper may also serve as benchmark for testing high-end parallel computers.

QCE: A Simulator for Quantum Computer Hardware

NASA Astrophysics Data System (ADS)

Michielsen, Kristel; de Raedt, Hans

2003-09-01

The Quantum Computer Emulator (QCE) described in this paper consists of a simulator of a generic, general purpose quantum computer and a graphical user interface. The latter is used to control the simulator, to define the hardware of the quantum computer and to debug and execute quantum algorithms. QCE runs in a Windows 98/NT/2000/ME/XP environment. It can be used to validate designs of physically realizable quantum processors and as an interactive educational tool to learn about quantum computers and quantum algorithms. A detailed exposition is given of the implementation of the CNOT and the Toffoli gate, the quantum Fourier transform, Grover's database search algorithm, an order finding algorithm, Shor's algorithm, a three-input adder and a number partitioning algorithm. We also review the results of simulations of an NMR-like quantum computer.

Quick-start guide for version 3.0 of EMINERS - Economic Mineral Resource Simulator

USGS Publications Warehouse

Bawiec, Walter J.; Spanski, Gregory T.

2012-01-01

Quantitative mineral resource assessment, as developed by the U.S. Geological Survey (USGS), consists of three parts: (1) development of grade and tonnage mineral deposit models; (2) delineation of tracts permissive for each deposit type; and (3) probabilistic estimation of the numbers of undiscovered deposits for each deposit type (Singer and Menzie, 2010). The estimate of the number of undiscovered deposits at different levels of probability is the input to the EMINERS (Economic Mineral Resource Simulator) program. EMINERS uses a Monte Carlo statistical process to combine probabilistic estimates of undiscovered mineral deposits with models of mineral deposit grade and tonnage to estimate mineral resources. It is based upon a simulation program developed by Root and others (1992), who discussed many of the methods and algorithms of the program. Various versions of the original program (called "MARK3" and developed by David H. Root, William A. Scott, and Lawrence J. Drew of the USGS) have been published (Root, Scott, and Selner, 1996; Duval, 2000, 2012). The current version (3.0) of the EMINERS program is available as USGS Open-File Report 2004-1344 (Duval, 2012). Changes from version 2.0 include updating 87 grade and tonnage models, designing new templates to produce graphs showing cumulative distribution and summary tables, and disabling economic filters. The economic filters were disabled because embedded data for costs of labor and materials, mining techniques, and beneficiation methods are out of date. However, the cost algorithms used in the disabled economic filters are still in the program and available for reference for mining methods and milling techniques included in Camm (1991). EMINERS is written in C++ and depends upon the Microsoft Visual C++ 6.0 programming environment. The code depends heavily on the use of Microsoft Foundation Classes (MFC) for implementation of the Windows interface. The program works only on Microsoft Windows XP or newer personal computers. It does not work on Macintosh computers. This report demonstrates how to execute EMINERS software using default settings and existing deposit models. Many options are available when setting up the simulation. Information and explanations addressing these optional parameters can be found in the EMINERS Help files. Help files are available during execution of EMINERS by selecting EMINERS Help from the pull-down menu under Help on the EMINERS menu bar. There are four sections in this report. Part I describes the installation, setup, and application of the EMINERS program, and Part II illustrates how to interpret the text file that is produced. Part III describes the creation of tables and graphs by use of the provided Excel templates. Part IV summarizes grade and tonnage models used in version 3.0 of EMINERS.

Xp11.2 Translocation Renal Cell Carcinoma Diagnosed by Immunohistochemistry and Cytogenetics.

PubMed

Dey, Biswajit; Badhe, Bhawana; Govindarajan, Krishna Kumar; Ramesh, Ranjith Arumbakkam

2016-01-01

Xp11.2 translocation renal cell carcinomas (TRCCs) are a group of neoplasms with distinct clinical, histopathological appearance, immunohistochemical, and cytogenetic profile. We report a case of Xp11.2 translocation TRCC in an 11-year-old male diagnosed based on immunohistochemistry and fluorescence in situ hybridization.

[Research advances in Xp11.2 translocation renal cell carcinoma].

PubMed

Huang, Jian-Hua; Zhou, Fang-Jian

2008-09-01

Xp11.2 translocation renal cell carcinoma (RCC) is a newly identified category of RCC described in the 2004 WHO Classification of Kidney Tumors. Although the incidence is very rare, it accounts about one third of pediatric RCCs. It is different from other RCCs in clinical manifestations, histopathologic features, biological behaviour and prognosis. At present, Xp11.2 translocation RCC has seldom been reported. This review analyzed recent researches on Xp11.2 translocation RCC, described its classification and summarized the characteristics of epidemiology, clinical manifestations, histopathology, diagnosis, treatment and prognosis.

Dynamic Computed Tomographic Features of Adult Renal Cell Carcinoma Associated With Xp11.2 Translocation/TFE3 Gene Fusions: Comparison With Clear Cell Renal Cell Carcinoma.

PubMed

He, Jian; Gan, Weidong; Liu, Song; Zhou, Kefeng; Zhang, Gutian; Guo, Hongqian; Zhu, Bin

2015-01-01

To investigate the dynamic contrast-enhanced computed tomography (CT) characteristics of renal cell carcinoma associated with Xp11.2 translocation and TFE gene fusion (Xp11.2 RCC) by comparison with clear cell renal cell carcinoma (CCRCC). Dynamic contrast-enhanced CT images and clinical and pathological records of 20 adult patients with Xp11.2 RCC confirmed by TFE3 immunohistochemical and fluorescence in situ hybridization assay were retrospectively analyzed and compared with the findings of 21 contemporary CCRCCs. Renal cell carcinoma associated with Xp11.2 translocation and TFE gene fusions often occurred in young (30.6 ± 8.6 years) patients with hematuria (9/20). They presented as well-defined (17/20) cystic-solid (17/20) mass with hemorrhage (8/20) and circular/rim calcifications (6/20). Dynamic contrast-enhanced CT showed heterogeneous moderate prolonged enhancement. A tumor-to-cortex attenuation ratio in corticomedullary phase less than 0.62 gave a sensitivity of 90.0% and a specificity of 92.9% in differentiating Xp11.2 RCC from CCRCC (area under the receiver operating characteristic curve = 0.957, P < 0.001). Computed tomographic characteristics and dynamic contrast-enhanced patterns and index can differentiate Xp11.2 RCC from CCRCC.

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.

PubMed

Toutain, A; Ronce, N; Dessay, B; Robb, L; Francannet, C; Le Merrer, M; Briard, M L; Kaplan, J; Moraine, C

1997-02-01

Nance-Horan syndrome (NHS) is an X-linked disease characterized by severe congenital cataract with microcornea, distinctive dental findings, evocative facial features and mental impairment in some cases. Previous linkage studies have placed the NHS gene in a large region from DXS143 (Xp22.31) to DXS451 (Xp22.13). To refine this localization further, we have performed linkage analysis in four families. As the maximum expected Lod score is reached in each family for several markers in the Xp22.31-p22.13 region and linkage to the rest of the X chromosome can be excluded, our study shows that NHS is a genetically homogeneous condition. An overall maximum two-point Lod score of 9.36 (theta = 0.00) is obtained with two closely linked markers taken together. DXS207 and DXS1053 in Xp22.2. Recombinant haplotypes indicate that the NHS gene lies between DXS85 and DXS1226. Multipoint analysis yield a maximum Lod score of 9.45 with the support interval spanning a 15-cM region that includes DXS16 and DXS1229/365. The deletion map of the Xp22.3-Xp21.3 region suggests that the phenotypic variability of NHS is not related to gross rearrangement of sequences of varying size but rather to allelic mutations in a single gene, presumably located proximal to DXS16 and distal to DXS1226. Comparison with the map position of the mouse Xcat mutation supports the location of the NHS gene between the GRPR and PDHA1 genes in Xp22.2.

Xeroderma pigmentosum complementation group G associated with Cockayne syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Vermeulen, W.; Jaspers, N.G.J.; Bootsma, D.

1993-07-01

Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are two rare inherited disorders with a clinical and cellular hypersensitivity to the UV component of the sunlight spectrum. Although the two traits are generally considered as clinically and genetically distinct entities, on the biochemical level a defect in the nucleotide excision-repair (NER) pathway is involved in both. Classical CS patients are primarily deficient in the preferential repair of DNA damage in actively transcribed genes, whereas in most XP patients the genetic defect affects both [open quotes]preferential[close quotes] and [open quotes]overall[close quotes] NER modalities. Here the authors report a genetic study of twomore » unrelated, severely affected patients with the clinical characteristics of CS but with a biochemical defect typical of XP. By complementation analysis, using somatic cell fusion and nuclear microinjection of cloned repair genes, they assign these two patients to XP complementation group G, which previously was not associated with CS. This observation extends the earlier identification of two patients with a rare combined XP/CS phenotype within XP complementation groups B and D, respectively. It indicates that some mutations in at least three of the seven genes known to be involved in XP also can result in a picture of partial or even full-blown CS. It is concluded that the syndromes XP and CS are biochemically closely related and may be part of a broader clinical disease spectrum. The authors suggest, as a possible molecular mechanism underlying this relation, that the XPGC repair gene has an additional vital function, as shown for some other NER genes. 33 refs., 5 tabs.« less

Highly Insulating Windows Volume Purchase Program Final Report

DOE Office of Scientific and Technical Information (OSTI.GOV)

None

2013-04-01

This report documents the development, execution outcomes and lessons learned of the Highly Insulating Windows Volume Purchase (WVP) Program carried out over a three-year period from 2009 through 2012. The primary goals of the program were met: 1) reduce the incremental cost of highly insulating windows compared to ENERGY STAR windows; and 2) raise the public and potential buyers’ awareness of highly insulating windows and their benefits. A key outcome of the program is that the 2013 ENERGY STAR Most Efficient criteria for primary residential windows were adopted from the technical specifications set forth in the WVP program.

Xp11.2 Translocation Renal Cell Carcinoma Diagnosed by Immunohistochemistry and Cytogenetics

PubMed Central

Dey, Biswajit; Badhe, Bhawana; Govindarajan, Krishna Kumar; Ramesh, Ranjith Arumbakkam

2016-01-01

Xp11.2 translocation renal cell carcinomas (TRCCs) are a group of neoplasms with distinct clinical, histopathological appearance, immunohistochemical, and cytogenetic profile. We report a case of Xp11.2 translocation TRCC in an 11-year-old male diagnosed based on immunohistochemistry and fluorescence in situ hybridization. PMID:27365924

Renal cell carcinoma associated with transcription factor E3 expression and Xp11.2 translocation: incidence, characteristics, and prognosis.

PubMed

Klatte, Tobias; Streubel, Berthold; Wrba, Friedrich; Remzi, Mesut; Krammer, Barbara; de Martino, Michela; Waldert, Matthias; Marberger, Michael; Susani, Martin; Haitel, Andrea

2012-05-01

We studied the characteristics and prognosis of renal cell carcinoma (RCC) associated with Xp11.2 translocation and transcription factor E3 (TFE3) expression and determined the need for genetic analysis in routine diagnostics. Of 848 consecutive cases, 75 showed microscopic features suggestive of Xp11.2 translocation RCC or occurred in patients 40 years or younger. Of these cases, 17 (23%) showed strong nuclear TFE3 immunostaining, which was associated with more advanced tumors and inverse prognosis in univariate (P = .032) but not multivariate (P = .404) analysis. With fluorescence in situ hybridization and polymerase chain reaction, only 2 cases showed alterations of the X chromosome and the ASPL-TFE3 gene fusion, respectively. In our laboratory, the predictive value of TFE3 expression for the Xp11.2 translocation was 12%. Strong nuclear TFE3 expression is associated with metastatic spread and a poor prognosis. In our laboratory, TFE3 is not diagnostic for Xp11.2 translocation RCC. Diagnosis of Xp11.2 translocation RCC may be made only genetically.

Discovery and identification of O, O-diethyl O-(4-(5-phenyl-4, 5-dihydroisoxazol-3-yl) phenyl) phosphorothioate (XP-1408) as a novel mode of action of organophosphorus insecticides.

PubMed

Zeng, Zhigang; Yan, Ying; Wang, Bingfeng; Liu, Niu; Xu, Hanhong

2017-06-15

Organophosphorus (OP) insecticides play an important role in pest control. Many OP insecticides have been removed from the market because of their high toxicity to humans. We designed and synthesized a new OP insecticide with the goal of providing a low cost, and less toxic insecticide. The mode of action of O, O-diethyl O-(4-(5-phenyl-4, 5-dihydroisoxazol-3-yl) phenyl) phosphorothioate (XP-1408) was studied in Drosophila melanogaster. Bioassays showed that XP-1408 at a concentration of 50 mg/L delayed larval development. Molecular docking into Drosophila acetylcholinesterase (AChE) and voltage-gated sodium channels suggested that XP-1408 fitted into their active sites and could be inhibitory. Whole-cell patch clamp recordings indicated that XP-1408 exhibited synergistic effects involving the inhibition of cholinergic synaptic transmission and blockage of voltage-gated potassium (K v ) channels and sodium (Na v ) channels. In conclusion, the multiple actions of XP-1408 rendered it as a lead compound for formulating OP insecticides with a novel mode of action.

γ-H2AX formation in response to interstrand crosslinks requires XPF in human cells

PubMed Central

Mogi, Seiki; Oh, Dennis H.

2009-01-01

To further define the molecular mechanisms involved in processing interstrand crosslinks, we monitored the formation of phosphorylated histone H2AX (γ-H2AX), which is generated in chromatin near double strand break sites, following DNA damage in normal and repair-deficient human cells. Following treatment with a psoralen derivative and ultraviolet A radiation doses that produce significant numbers of crosslinks, γ-H2AX levels in nucleotide excision repair-deficient XP-A fibroblasts (XP12RO-SV) increased to levels that were twice those observed in normal control GM637 fibroblasts. A partial XPA revertant cell line (XP129) that is proficient in crosslink removal, exhibited reduced γ-H2AX levels that were intermediate between those of GM637 and XP-A cells. XP-F fibroblasts (XP2YO-SV and XP3YO) that are also repair-deficient exhibited γ-H2AX levels below even control fibroblasts following treatment with psoralen and ultraviolet A radiation. Similarly, another crosslinking agent, mitomycin C, did not induce γ-H2AX in XP-F cells, although it did induce equivalent levels of γ-H2AX in XPA and control GM637 cells. Ectopic expression of XPF in XP-F fibroblasts restored γ-H2AX induction following treatment with crosslinking agents. Angelicin, a furocoumarin which forms only monoadducts and not crosslinks following ultraviolet A radiation, as well as ultraviolet C radiation, resulted only in weak induction of γ-H2AX in all cells, suggesting that the double strand breaks observed with psoralen and ultraviolet A treatment result preferentially following crosslink formation. These results indicate that XPF is required to form γ-H2AX and likely double strand breaks in response to interstrand crosslinks in human cells. Furthermore, XPA may be important to allow psoralen interstrand crosslinks to be processed without forming a double strand break intermediate. PMID:16678501

MiT translocation renal cell carcinomas: two subgroups of tumours with translocations involving 6p21 [t (6; 11)] and Xp11.2 [t (X;1 or X or 17)].

PubMed

Hora, Milan; Urge, Tomáš; Trávníček, Ivan; Ferda, Jiří; Chudáček, Zdeněk; Vaněček, Tomáš; Michal, Michal; Petersson, Fredrik; Kuroda, Naoto; Hes, Ondřej

2014-01-01

MiT translocation renal cell carcinomas (TRCC) predominantly occur in younger patients with only 25% of patients being over 40 years. TRCC contains two main subgroups with translocations involving 6p21 or Xp11.2. Herein we present 10 cases. Eight cases were treated at main author's institution (identified among 1653 (0.48%) cases of kidney tumours in adults). Two cases were retrieved from the Pilsen (CZ) Tumour Registry. Six cases were type Xp11.2 and four 6p21; 7 female, 3 male patients; Xp11.2 4:2, 6p21 3:1. The mean age 49 years (range: 21-80), 5 patients (50%) over 40 years. The mean age of the group with Xp11.2 TRCCs was 55 (median 51) and 6p21 41 (32) years. One female with a 6p21 tumour (24 years) underwent nephrectomy at 4 months of pregnancy. Stage (UICC, 7th ed. 2009) was 5xI, 3xIII, 2xIV. The mean size of tumour was 80 (40-165) mm. The mean follow-up was 33.2 (1-92) months. In patients with 6p21 tumours, one (25%) died after 3 months due to widely metastatic disease. In patients with Xp11.2 tumours, 3 (50%) succumbed due to metastatic disease (range 1-8 months). Three patients with Xp11.2 are alive at 7, 52 and 92 months of follow-up, were diagnosed at early stage (T1a). TRCCs were more common in females. Patient with 6p21 tumours were younger than those with Xp11.2. Both types have definitive malignant potential Type Xp11.2 seems to be a more aggressive neoplasm than 6p21. The case with metastatic 6p21 tumour is the 4th case described in the English literature.

Orbital amelanotic melanoma in xeroderma pigmentosum: A rare association

PubMed Central

Amitava, Abadan K; Mehdi, Ghazala; Sharma, Rajeev; Alam, Mohammad S

2008-01-01

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder of DNA repair in which the body′s normal ability to repair damage caused by ultraviolet light is deficient. This leads to a 1000-fold increased risk of cutaneous and ocular neoplasms. Ocular neoplasms occurring in XP in order of frequency are squamous cell carcinoma, basal cell carcinoma and melanoma. Malignant melanomas occur at an early age in patients with XP. We report a case of XP with massive orbital melanoma in an eight-year-old boy which is unique due to its amelanotic presentation confirmed histopathologically. PMID:18711275

Alert Regarding Cisplatin-induced Severe Adverse Events in Cancer Patients with Xeroderma Pigmentosum.

PubMed

Sumiyoshi, Makoto; Soda, Hiroshi; Sadanaga, Noriaki; Taniguchi, Hirokazu; Ikeda, Takaya; Maruta, Hiroshi; Dotsu, Yosuke; Ogawara, Daiki; Fukuda, Yuichi; Mukae, Hiroshi

2017-01-01

Xeroderma pigmentosum (XP) is a genetic disease in which DNA repair mechanisms are impaired. Cisplatin (CDDP) exerts cytotoxic effects by forming mainly intrastrand DNA cross-links, and sensitivity to CDDP depends on the DNA repair system. Several in vitro studies have suggested that treatment with CDDP may cause enhanced adverse events as well as anti-tumor activity in cancer patients with XP. This article is the first to describe two cancer patients with XP showing severe adverse events following CDDP-based chemotherapy. Physicians should pay attention when administering CDDP in cancer patients with XP.

Simultaneous detection of eight avian influenza A virus subtypes by multiplex reverse transcription-PCR using a GeXP analyser.

PubMed

Li, Meng; Xie, Zhixun; Xie, Zhiqin; Liu, Jiabo; Xie, Liji; Deng, Xianwen; Luo, Sisi; Fan, Qing; Huang, Li; Huang, Jiaoling; Zhang, Yanfang; Zeng, Tingting; Wang, Sheng

2018-04-18

Recent studies have demonstrated that at least eight subtypes of avian influenza virus (AIV) can infect humans, including H1, H2, H3, H5, H6, H7, H9 and H10. A GeXP analyser-based multiplex reverse transcription (RT)-PCR (GeXP-multiplex RT-PCR) assay was developed in our recent studies to simultaneously detect these eight AIV subtypes using the haemagglutinin (HA) gene. The assay consists of chimeric primer-based PCR amplification with fluorescent labelling and capillary electrophoresis separation. RNA was extracted from chick embryo allantoic fluid or liquid cultures of viral isolates. In addition, RNA synthesised via in vitro transcription was used to determine the specificity and sensitivity of the assay. After selecting the primer pairs, their concentrations and GeXP-multiplex RT-PCR conditions were optimised. The established GeXP-multiplex RT-PCR assay can detect as few as 100 copies of premixed RNA templates. In the present study, 120 clinical specimens collected from domestic poultry at live bird markets and from wild birds were used to evaluate the performance of the assay. The GeXP-multiplex RT-PCR assay specificity was the same as that of conventional RT-PCR. Thus, the GeXP-multiplex RT-PCR assay is a rapid and relatively high-throughput method for detecting and identifying eight AIV subtypes that may infect humans.

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.

PubMed

Ben Rekaya, Mariem; Laroussi, Nadia; Messaoud, Olfa; Jones, Mariem; Jerbi, Manel; Naouali, Chokri; Bouyacoub, Yosra; Chargui, Mariem; Kefi, Rym; Fazaa, Becima; Boubaker, Mohamed Samir; Boussen, Hamouda; Mokni, Mourad; Abdelhak, Sonia; Zghal, Mohamed; Khaled, Aida; Yacoub-Youssef, Houda

2014-01-01

Xeroderma pigmentosum Variant (XP-V) form is characterized by a late onset of skin symptoms. Our aim is the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous families. Analysis of the POLH gene was performed by linkage analysis, long range PCR, and sequencing. Genetic analysis showed linkage to the POLH gene with a founder haplotype in all affected patients. Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals. Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10. We suggest that this mutation POLH NG_009252.1: g.36847_40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis. These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-V patients. In Tunisia, the prevalence of XP-V group seems to be underestimated and clinical diagnosis is usually later. Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa.

A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy

PubMed Central

Ben Rekaya, Mariem; Laroussi, Nadia; Messaoud, Olfa; Jones, Mariem; Jerbi, Manel; Bouyacoub, Yosra; Chargui, Mariem; Kefi, Rym; Fazaa, Becima; Boubaker, Mohamed Samir; Boussen, Hamouda; Mokni, Mourad; Abdelhak, Sonia; Zghal, Mohamed; Khaled, Aida; Yacoub-Youssef, Houda

2014-01-01

Xeroderma pigmentosum Variant (XP-V) form is characterized by a late onset of skin symptoms. Our aim is the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous families. Analysis of the POLH gene was performed by linkage analysis, long range PCR, and sequencing. Genetic analysis showed linkage to the POLH gene with a founder haplotype in all affected patients. Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals. Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10. We suggest that this mutation POLH NG_009252.1: g.36847_40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis. These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-V patients. In Tunisia, the prevalence of XP-V group seems to be underestimated and clinical diagnosis is usually later. Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa. PMID:24877075

ENVIRONMENTAL TECHNOLOGY VERIFICATION REPORT: EVALUATION OF THE XP-SWMM STORMWATER WASTEWATER MANAGEMENT MODEL, VERSION 8.2, 2000, FROM XP SOFTWARE, INC.

EPA Science Inventory

XP-SWMM is a commercial software package used throughout the United States and around the world for simulation of storm, sanitary and combined sewer systems. It was designed based on the EPA Storm Water Management Model (EPA SWMM), but has enhancements and additional algorithms f...

Renal cell carcinoma associated with Xp11.2 translocation/TFE gene fusion: imaging findings in 21 patients.

PubMed

Chen, Xiao; Zhu, Qingqiang; Li, Baoxin; Cui, Wenjing; Zhou, Hao; Duan, Na; Liu, Yongkang; Kundra, Vikas; Wang, Zhongqiu

2017-02-01

To characterize imaging features of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE gene fusion. Twenty-one patients with Xp11.2/TFE RCC were retrospectively evaluated. Tumour location, size, density, cystic or solid appearance, calcification, capsule sign, enhancement pattern and metastases were assessed. Fourteen women and seven men were identified with 12 being 25 years old or younger. Tumours were solitary and cystic-solid (76.2 %) masses with a capsule (76.2 %); 90.5 % were located in the medulla. Calcifications and lymph node metastases were each observed in 24 %. On unenhanced CT, tumour attenuation was greater than in normal renal parenchyma (85.7 %). Tumour enhancement was less than in normal renal cortex on all enhanced phases, greater than in normal renal medulla on cortical and medullary phases, but less than in normal renal medulla on delayed phase. On MR, the tumours were isointense on T1WI, heterogeneously hypointense on T2WI and slightly hyperintense on diffusion-weighted imaging. Xp11.2/TFE RCC usually occurs in young women. It is a cystic-solid, hyperdense mass with a capsule. It arises from the renal medulla with enhancement less than in the cortex but greater than in the medulla in all phases except the delayed phase, when it is lower than in the medulla. • Xp11.2/TFE RCC was more prevalent in young women. • On unenhanced CT, Xp11.2/TFE RCC attenuation was greater than in renal parenchyma. • Xp111/2TFE RCC arises primarily from the renal medulla. • Xp11.2/TFE RCC enhancement was less than in the cortex on all phases. • Enhancement was greater than in the medulla in arterial and corticomedullary phase.

Persistence of Repair Proteins at Unrepaired DNA Damage Distinguishes Diseases with ERCC2 (XPD) Mutations: Cancer-Prone Xeroderma Pigmentosum vs. Non-Cancer-Prone Trichothiodystrophy

PubMed Central

Boyle, Jennifer; Ueda, Takahiro; Oh, Kyu-Seon; Imoto, Kyoko; Tamura, Deborah; Jagdeo, Jared; Khan, Sikandar G.; Nadem, Carine; DiGiovanna, John J.; Kraemer, Kenneth H.

2012-01-01

Patients with xeroderma pigmentosum (XP) have a 1,000-fold increase in ultraviolet (UV)-induced skin cancers while trichothiodystrophy (TTD) patients, despite mutations in the same genes, ERCC2 (XPD) or ERCC3 (XPB), are cancer-free. Unlike XP cells, TTD cells have a nearly normal rate of removal of UV-induced 6-4 photoproducts (6-4PP) in their DNA and low levels of the basal transcription factor, TFIIH. We examined seven XP, TTD, and XP/TTD complex patients and identified mutations in the XPD gene. We discovered large differences in nucleotide excision repair (NER) protein recruitment to sites of localized UV damage in TTD cells compared to XP or normal cells. XPC protein was rapidly localized in all cells. XPC was redistributed in TTD, and normal cells by 3 hr postirradiation, but remained localized in XP cells at 24-hr postirradiation. In XP cells recruitment of other NER proteins (XPB, XPD, XPG, XPA, and XPF) was also delayed and persisted at 24 hr (p < 0.001). In TTD cells with defects in the XPD, XPB, or GTF2H5 (TTDA) genes, in contrast, recruitment of these NER proteins was reduced compared to normals at early time points (p < 0.001) and remained low at 24 hr postirradiation. These data indicate that in XP persistence of NER proteins at sites of unrepaired DNA damage is associated with greatly increased skin cancer risk possibly by blockage of translesion DNA synthesis. In contrast, in TTD, low levels of unstable TFIIH proteins do not accumulate at sites of unrepaired photoproducts and may permit normal translesion DNA synthesis without increased skin cancer. PMID:18470933

Effect of ProTaper Gold, Self-Adjusting File, and XP-endo Shaper Instruments on Dentinal Microcrack Formation: A Micro-computed Tomographic Study.

PubMed

Bayram, H Melike; Bayram, Emre; Ocak, Mert; Uygun, Ahmet Demirhan; Celik, Hakan Hamdi

2017-07-01

The aim of the present study was to evaluate the frequency of dentinal microcracks observed after root canal preparation with ProTaper Universal (PTU; Dentsply Tulsa Dental Specialties, Tulsa, OK), ProTaper Gold (PTG; Dentsply Tulsa Dental Specialties), Self-Adjusting File (SAF; ReDent Nova, Ra'anana, Israel), and XP-endo Shaper (XP; FKG Dentaire, La Chaux-de-Fonds, Switzerland) instruments using micro-computed tomographic (CT) analysis. Forty extracted human mandibular premolars having single-canal and straight root were randomly assigned to 4 experimental groups (n = 10) according to the different nickel-titanium systems used for root canal preparation: PTU, PTG, SAF, and XP. In the SAF and XP groups, the canals were first prepared with a K-file until #25 at the working length, and then the SAF or XP files were used. The specimens were scanned using high-resolution micro-computed tomographic imaging before and after root canal preparation. Afterward, preoperative and postoperative cross-sectional images of the teeth were screened to identify the presence of dentinal defects. For each group, the number of microcracks was determined as a percentage rate. The McNemar test was used to determine significant differences before and after instrumentation. The level of significance was set at P ≤ .05. The PTU system significantly increased the percentage rate of microcracks compared with preoperative specimens (P < .05). No new dentinal microcracks were observed in the PTG, SAF, or XP groups. Root canal preparations with the PTG, SAF, and XP systems did not induce the formation of new dentinal microcracks on straight root canals of mandibular premolars. Copyright © 2017 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: radiological findings mimicking papillary subtype.

PubMed

Kato, Hiroki; Kanematsu, Masayuki; Yokoi, Shigeaki; Miwa, Kousei; Horie, Kengo; Deguchi, Takashi; Hirose, Yoshinobu

2011-01-01

The authors describe the computed tomography (CT) and magnetic resonance imaging (MRI) findings of an 18-year-old man with renal cell carcinoma (RCC) associated with the Xp11.2 translocation/transcription factor E3 (TFE3) gene fusion (Xp11 translocation carcinoma). The lesion was hyperdense on unenhanced CT, hypovascular on contrast-enhanced studies, hypointense on T2-weighted MR images, and hemosiderin deposition was suspected on phase-shift gradient-echo MR images. Histopathological specimens revealed pathological findings resembling papillary RCC predominantly and exhibited immunoreactivity for TFE3. Because there is often considerable morphological overlap between this carcinoma and papillary RCC, the imaging findings of Xp11 translocation carcinoma may be similar to those of the papillary subtype. Therefore, Xp11 translocation carcinoma should be considered, particularly in young patients when radiologic images demonstrate a renal tumor mimicking the papillary subtype. Copyright © 2010 Wiley-Liss, Inc.

Xp11.2 translocation renal cell carcinoma with TFE3 gene fusion: A case report.

PubMed

Pan, Xiang; Quan, Jing; Zhao, Liwen; Li, Wenhua; Wei, Benlin; Yang, Shangqi; Lai, Yongqing

2018-01-01

Xp11.2 translocation renal cell carcinoma (RCC) with transcription factor E3 (TFE3) gene fusion is a rare tumor, and the prognosis of this tumor is poorer compared with that of other subtypes of RCC. The patient presented herein was a 70-year-old man who presented with a solid mass sized ~8.2×6.1 cm in the right kidney and underwent radical right nephrectomy. Following pathological and immunohistochemical (IHC) examination and fluorescent in situ hybridization (FISH), the patient was diagnosed with Xp11.2 translocation RCC with TFE3 gene fusion. These tumors are more commonly encountered in children rather than in adults, and adult Xp11.2 translocation RCC is associated with a poorer prognosis compared with its pediatric counterpart. IHC assay and FISH are important diagnostic methods. However, there is currently no established effective treatment for Xp11.2 RCC.

Xp11.2 translocation renal cell carcinoma with TFE3 gene fusion: A case report

PubMed Central

Pan, Xiang; Quan, Jing; Zhao, Liwen; Li, Wenhua; Wei, Benlin; Yang, Shangqi; Lai, Yongqing

2018-01-01

Xp11.2 translocation renal cell carcinoma (RCC) with transcription factor E3 (TFE3) gene fusion is a rare tumor, and the prognosis of this tumor is poorer compared with that of other subtypes of RCC. The patient presented herein was a 70-year-old man who presented with a solid mass sized ~8.2×6.1 cm in the right kidney and underwent radical right nephrectomy. Following pathological and immunohistochemical (IHC) examination and fluorescent in situ hybridization (FISH), the patient was diagnosed with Xp11.2 translocation RCC with TFE3 gene fusion. These tumors are more commonly encountered in children rather than in adults, and adult Xp11.2 translocation RCC is associated with a poorer prognosis compared with its pediatric counterpart. IHC assay and FISH are important diagnostic methods. However, there is currently no established effective treatment for Xp11.2 RCC. PMID:29399348

Cytological evidence for DNA chain elongation after UV irradiation in the S phase

DOE Office of Scientific and Technical Information (OSTI.GOV)

Minka, D.F.; Nath, J.

1981-04-01

Human cells irradiated with UV light synthesize lower molecular weight DNA than unirradiated cells. This reduction in molecular weight is greater in xeroderma pigmentosum (XP) cells than in normal cells. The molecular weight of DNA is further reduced by the addition of caffeine to XP cells. By several hours after irradiation, DNA fragments are barely detectable. Cells from excision-proficient and excision-deficient XP patients were studied autoradiographically to produce cytological evidence of DNA chain elongation. Replicate cultures with and without caffeine were synchronized and irradiated with UV light during the S phase. Caffeine was removed in G2, and the cells weremore » labeled with /sup 3/H-thymidine. Results showed significantly increased labeling during G2 of excision-deficient XP cells. Labeling was dependent on the time of irradiation and presence of caffeine. The XP variant cells had no increase in labeling for any irradiation time.« less

Chance, destiny, and the inner workings of ClpXP.

PubMed

Russell, Rick; Matouschek, Andreas

2014-07-31

AAA+ proteases are responsible for protein degradation in all branches of life. Using single-molecule and ensemble assays, Cordova et al. investigate how the bacterial protease ClpXP steps through a substrate's polypeptide chain and construct a quantitative kinetic model that recapitulates the interplay between stochastic and deterministic behaviors of ClpXP. Copyright © 2014 Elsevier Inc. All rights reserved.

First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.

PubMed

Dupont, Celine; Lebbar, Aziza; Teinturier, Cecile; Baverel, Françoise; Viot, Geraldine; Le Tessier, Dominique; Le Bozec, Jerome; Cuisset, Laurence; Dupont, Jean-Michel

2007-06-01

We report here on a 6-year-old boy referred to the laboratory for karyotyping and SHOX microdeletion testing. The most significant clinical findings in this boy were small stature, Madelung deformity, facial dysmorphism, mild mental retardation and behavioral problems. R-, G- and RTBG-banding chromosome analysis showed a normal male karyotype. Fine molecular characterization, by FISH, of terminal Xp microdeletion revealed an associated partial duplication. Further refinement of the molecular analysis indicated an inverted duplication of the Xp22.31-Xp22.32 (13.7 Mb) region including the STS, VCX-A and KAL1 genes, associated with a terminal Xp deletion Xp22.33-Xpter (3.6 Mb) encompassing the SHOX and ARSE genes. Such rearrangements have been characterized for other chromosomal pairs, but this is the first reported male patient involving the short arm of the X chromosome. Molecular analysis of the maternal and patient's microsatellite markers showed interchromatid mispairing leading to non-allelic homologous recombination to be the most likely mechanism underlying this rearrangement. This case highlights the importance of clinically driven FISH investigations in order to uncover cryptic micro-rearrangements. Copyright (c) 2007 Wiley-Liss, Inc.

A case of PSF-TFE3 gene fusion in Xp11.2 renal cell carcinoma with melanotic features.

PubMed

Zhan, He-Qin; Chen, Hong; Wang, Chao-Fu; Zhu, Xiong-Zeng

2015-03-01

Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) with PSF-TFE3 gene fusion is a rare neoplasm. Only 22 cases of Xp11.2 RCCs with PSF-TFE3 have been reported to date. We describe an additional case of Xp11.2 RCC with PSF-TFE3 showing melanotic features. Microscopically, the histologic features mimic clear cell renal cell carcinoma. However, the dark-brown pigments were identified and could be demonstrated as melanins. Immunohistochemically, the tumor cells were widely positive for CD10, human melanoma black 45, and TFE3 but negative for cytokeratins, vimentin, Melan-A, microphthalmia-associated transcription factor, smooth muscle actin, and S-100 protein. Genetically, we demonstrated PSF-TFE3 fusion between exon 9 of PSF and exon 5 of TFE3. The patient was free of disease with 50 months of follow-up. The prognosis of this type of tumor requires more cases because of limited number of cases and follow-up period. Xp11.2 RCC with PSF-TFE3 inevitably requires differentiation from other kidney neoplasms. Immunohistochemical and molecular genetic analyses are essential for accurate diagnosis. Copyright © 2015 Elsevier Inc. All rights reserved.

Postoperative recurrence of adult renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion.

PubMed

Wang, Zhen; Liu, Ning; Gan, Weidong; Li, Xiaogong; Zhang, Gutian; Li, Dongmei; Guo, Hongqian

2017-08-01

Objective To analyze the postoperative recurrence of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 tRCC). Methods This retrospective study was approved by the institutional review board and performed in accordance with the ethical standards established by the institution. Demographic, clinical, pathological, and follow-up data were compiled for the study cohort. Results During a mean follow-up of 41.3 months (range, 3-104 months), 8 of 34 patients with Xp11.2 tRCC were confirmed to have recurrence. Three of these patients died with poor outcomes due to a vena cava tumor embolus, and one died of distant metastasis 48 months after the initial nephrectomy during which lymph node metastasis was found. Three patients survived after cytoreduction surgery. One patient was diagnosed with lung metastasis 11 months postoperatively. Conclusions The TNM classification provides significant prognostic information for Xp11.2 tRCC. A relatively active surveillance algorithm is recommended, and cytoreduction surgery is an effective approach for recurrent Xp11.2 tRCC. Larger studies are required to more extensively investigate the recurrence of these potentially aggressive tumors.

Postoperative recurrence of adult renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

PubMed Central

Wang, Zhen; Liu, Ning; Li, Xiaogong; Zhang, Gutian; Li, Dongmei; Guo, Hongqian

2017-01-01

Objective To analyze the postoperative recurrence of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 tRCC). Methods This retrospective study was approved by the institutional review board and performed in accordance with the ethical standards established by the institution. Demographic, clinical, pathological, and follow-up data were compiled for the study cohort. Results During a mean follow-up of 41.3 months (range, 3–104 months), 8 of 34 patients with Xp11.2 tRCC were confirmed to have recurrence. Three of these patients died with poor outcomes due to a vena cava tumor embolus, and one died of distant metastasis 48 months after the initial nephrectomy during which lymph node metastasis was found. Three patients survived after cytoreduction surgery. One patient was diagnosed with lung metastasis 11 months postoperatively. Conclusions The TNM classification provides significant prognostic information for Xp11.2 tRCC. A relatively active surveillance algorithm is recommended, and cytoreduction surgery is an effective approach for recurrent Xp11.2 tRCC. Larger studies are required to more extensively investigate the recurrence of these potentially aggressive tumors. PMID:28587544

Xeroderma pigmentosum at a tertiary care center in Saudi Arabia.

PubMed

Alwatban, Lenah; Binamer, Yousef

2017-01-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder caused by defective DNA repair that results in extreme sensitivity to ultraviolet (UV) rays. Depending on the type of XP, the disease may affect the skin, eyes and nervous system. Describe the dermatologic manifestations in patients suffering from XP. Retrospective, descriptive review of medical records. Dermatology clinic at tertiary care center in Riyadh. This study included Saudi patients with clinically confirmed XP. Demographic and clinical data including pathology and associated conditions and outcomes. Of 21 patients with XP, the most common manifestation was lentigines, affecting 18 patients (86%). The most common skin cancer was basal cell carcinoma followed by squamous cell carcinoma (SCC) affecting 15 (71.4%) and 9 (42.8%), respectively. Other skin findings included neurofibroma, trichilemmoma and seborrheic keratosis. Ocular involvement included photophobia, which was the most common finding followed by dryness and ocular malignancies. Two patients showed neurological involvement, which correlated with the type of mutation. Considering that XP is a rare genetic disease, this description of our patient population will aid in early recognition and diagnosis. Retrospective and small number of patients. Genetic analyses were done for only 5 of the 21 patients.

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

PubMed

Zhou, Xiaolong; Khan, Sikandar G; Tamura, Deborah; Ueda, Takahiro; Boyle, Jennifer; Compe, Emmanuel; Egly, Jean-Marc; DiGiovanna, John J; Kraemer, Kenneth H

2013-08-01

XPD (ERCC2) is a DNA helicase involved in nucleotide excision repair and in transcription as a structural bridge tying the transcription factor IIH (TFIIH) core with the cdk-activating kinase complex, which phosphorylates nuclear receptors. Mutations in XPD are associated with several different phenotypes, including trichothiodystrophy (TTD), with sulfur-deficient brittle hair, bone defects, and developmental abnormalities without skin cancer, xeroderma pigmentosum (XP), with pigmentary abnormalities and increased skin cancer, or XP/TTD with combined features, including skin cancer. We describe the varied clinical features and mutations in nine patients examined at the National Institutes of Health who were compound heterozygotes for XPD mutations but had different clinical phenotypes: four TTD, three XP, and two combined XP/TTD. We studied TFIIH-dependent transactivation by nuclear receptor for vitamin D (VDR) and thyroid in cells from these patients. The vitamin D stimulation ratio of CYP24 and osteopontin was associated with specific pairs of mutations (reduced in 5, elevated in 1) but not correlated with distinct clinical phenotypes. Thyroid receptor stimulation ratio for KLF9 was not significantly different from normal. XPD mutations frequently were associated with abnormal VDR stimulation in compound heterozygote patients with TTD, XP, or XP/TTD.

X-Windows Socket Widget Class

NASA Technical Reports Server (NTRS)

Barry, Matthew R.

2006-01-01

The X-Windows Socket Widget Class ("Class" is used here in the object-oriented-programming sense of the word) was devised to simplify the task of implementing network connections for graphical-user-interface (GUI) computer programs. UNIX Transmission Control Protocol/Internet Protocol (TCP/IP) socket programming libraries require many method calls to configure, operate, and destroy sockets. Most X Windows GUI programs use widget sets or toolkits to facilitate management of complex objects. The widget standards facilitate construction of toolkits and application programs. The X-Windows Socket Widget Class encapsulates UNIX TCP/IP socket-management tasks within the framework of an X Windows widget. Using the widget framework, X Windows GUI programs can treat one or more network socket instances in the same manner as that of other graphical widgets, making it easier to program sockets. Wrapping ISP socket programming libraries inside a widget framework enables a programmer to treat a network interface as though it were a GUI.

LinguisticBelief: a java application for linguistic evaluation using belief, fuzzy sets, and approximate reasoning.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Darby, John L.

LinguisticBelief is a Java computer code that evaluates combinations of linguistic variables using an approximate reasoning rule base. Each variable is comprised of fuzzy sets, and a rule base describes the reasoning on combinations of variables fuzzy sets. Uncertainty is considered and propagated through the rule base using the belief/plausibility measure. The mathematics of fuzzy sets, approximate reasoning, and belief/ plausibility are complex. Without an automated tool, this complexity precludes their application to all but the simplest of problems. LinguisticBelief automates the use of these techniques, allowing complex problems to be evaluated easily. LinguisticBelief can be used free of chargemore » on any Windows XP machine. This report documents the use and structure of the LinguisticBelief code, and the deployment package for installation client machines.« less

How to make your own response boxes: A step-by-step guide for the construction of reliable and inexpensive parallel-port response pads from computer mice.

PubMed

Voss, Andreas; Leonhart, Rainer; Stahl, Christoph

2007-11-01

Psychological research is based in large parts on response latencies, which are often registered by keypresses on a standard computer keyboard. Recording response latencies with a standard keyboard is problematic because keypresses are buffered within the keyboard hardware before they are signaled to the computer, adding error variance to the recorded latencies. This can be circumvented by using external response pads connected to the computer's parallel port. In this article, we describe how to build inexpensive, reliable, and easy-to-use response pads with six keys from two standard computer mice that can be connected to the PC's parallel port. We also address the problem of recording data from the parallel port with different software packages under Microsoft's Windows XP.

QDENSITY—A Mathematica quantum computer simulation

NASA Astrophysics Data System (ADS)

Juliá-Díaz, Bruno; Burdis, Joseph M.; Tabakin, Frank

2009-03-01

This Mathematica 6.0 package is a simulation of a Quantum Computer. The program provides a modular, instructive approach for generating the basic elements that make up a quantum circuit. The main emphasis is on using the density matrix, although an approach using state vectors is also implemented in the package. The package commands are defined in Qdensity.m which contains the tools needed in quantum circuits, e.g., multiqubit kets, projectors, gates, etc. New version program summaryProgram title: QDENSITY 2.0 Catalogue identifier: ADXH_v2_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADXH_v2_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 26 055 No. of bytes in distributed program, including test data, etc.: 227 540 Distribution format: tar.gz Programming language: Mathematica 6.0 Operating system: Any which supports Mathematica; tested under Microsoft Windows XP, Macintosh OS X, and Linux FC4 Catalogue identifier of previous version: ADXH_v1_0 Journal reference of previous version: Comput. Phys. Comm. 174 (2006) 914 Classification: 4.15 Does the new version supersede the previous version?: Offers an alternative, more up to date, implementation Nature of problem: Analysis and design of quantum circuits, quantum algorithms and quantum clusters. Solution method: A Mathematica package is provided which contains commands to create and analyze quantum circuits. Several Mathematica notebooks containing relevant examples: Teleportation, Shor's Algorithm and Grover's search are explained in detail. A tutorial, Tutorial.nb is also enclosed. Reasons for new version: The package has been updated to make it fully compatible with Mathematica 6.0 Summary of revisions: The package has been updated to make it fully compatible with Mathematica 6.0 Running time: Most examples included in the package, e.g., the tutorial, Shor's examples, Teleportation examples and Grover's search, run in less than a minute on a Pentium 4 processor (2.6 GHz). The running time for a quantum computation depends crucially on the number of qubits employed.

The NERV Methodology: Non-Functional Requirements Elicitation, Reasoning and Validation in Agile Processes

ERIC Educational Resources Information Center

Domah, Darshan

2013-01-01

Agile software development has become very popular around the world in recent years, with methods such as Scrum and Extreme Programming (XP). Literature suggests that functionality is the primary focus in Agile processes while non-functional requirements (NFR) are either ignored or ill-defined. However, for software to be of good quality both…

TFE3 break-apart FISH has a higher sensitivity for Xp11.2 translocation-associated renal cell carcinoma compared with TFE3 or cathepsin K immunohistochemical staining alone: expanding the morphologic spectrum.

PubMed

Rao, Qiu; Williamson, Sean R; Zhang, Shaobo; Eble, John N; Grignon, David J; Wang, Mingsheng; Zhou, Xiao-Jun; Huang, Wenbin; Tan, Puay-Hoon; Maclennan, Gregory T; Cheng, Liang

2013-06-01

Renal cell carcinoma (RCC) associated with Xp11.2 translocation is uncommon, characterized by several different translocations involving the TFE3 gene. We assessed the utility of break-apart fluorescence in situ hybridization (FISH) in establishing the diagnosis for suspected or unclassified cases with negative or equivocal TFE3 immunostaining by analyzing 24 renal cancers with break-apart TFE3 FISH and comparing the molecular findings with the results of TFE3 and cathepsin K immunostaining in the same tumors. Ten tumors were originally diagnosed as Xp11.2 RCC on the basis of positive TFE3 immunostaining, and 14 were originally considered unclassified RCCs with negative or equivocal TFE3 staining, but with a range of features suspicious for Xp11.2 RCC. Seventeen cases showed TFE3 rearrangement associated with Xp11.2 translocation by FISH, including all 13 tumors with moderate or strong TFE3 (n=10) or cathepsin K (n=7) immunoreactivity. FISH-positive cases showed negative or equivocal immunoreactivity for TFE3 or cathepsin K in 7 and 10 tumors, respectively (both=3). None had positive immunohistochemistry but negative FISH. Morphologic features were typical for Xp11.2 RCC in 10/17 tumors. Unusual features included 1 melanotic Xp11.2 renal cancer, 1 tumor with mixed features of Xp11.2 RCC and clear cell RCC, and other tumors mimicking clear cell RCC, multilocular cystic RCC, or high-grade urothelial carcinoma. Morphology mimicking high-grade urothelial carcinoma has not been previously reported in these tumors. Psammoma bodies, hyalinized stroma, and intracellular pigment were preferentially identified in FISH-positive cases compared with FISH-negative cases. Our results support the clinical application of a TFE3 break-apart FISH assay for diagnosis and confirmation of Xp11.2 RCC and further expand the histopathologic spectrum of these neoplasms to include tumors with unusual features. A renal tumor with pathologic or clinical features highly suggestive of translocation-associated RCC but exhibiting negative or equivocal TFE3 immunostaining should be evaluated by TFE3 FISH assay to fully assess this possibility.

Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.

PubMed Central

Zatz, M; Vianna-Morgante, A M; Campos, P; Diament, A J

1981-01-01

A female with Duchenne muscular dystrophy who was a carrier of a balanced translocation t(X;6)(p21;q21) is reported. Four other previously described (X;A) translocations associated with DMD share with the present case a breakpoint at Xp21. The extremely low probability of five independent (X;A) translocations having a breakpoint at Xp21 points to a non-rand association of this site with the DMD phenotype. A DMD locus at Xp21 could be damaged by the translocation, giving rise to Duchenne muscular dystrophy. Alternatively, a pre-existing DMD gene could weaken the chromosome, favouring breaks at Xp21. Images PMID:7334502

Renal cell carcinoma associated with Xp11.2 translocations, report of a case.

PubMed

Jing, Hongbiao; Tai, Yanhong; Xu, Dazhou; Yang, Fan; Geng, Ming

2010-07-01

Renal cell carcinomas (RCCs) associated with Xp11.2 translocations (Xp11.2 translocation RCCs) are rare and occur predominantly in children and adolescents. A case of such tumor in a 12-year boy is reported. Grossly the cut surface of the ill-defined mass was polychromatic, containing areas of hemorrhage and necrosis. Microscopically, the tumor was composed of epithelioid cells with clear to weakly eosinophilic cytoplasm arranged in nested, alveolar, and pseudopapillary formations. Immunohistochemically, the neoplastic cells were positive for transcription factor E3 and CD10. We concluded that this case was an Xp11.2 translocation RCC. Copyright 2010 Elsevier Inc. All rights reserved.

The XP spaceplane: A near term multi-purpose suborbital RLV

NASA Astrophysics Data System (ADS)

Lauer, Charles J.

2007-06-01

This paper will describe the history, technology and design features of the XP spaceplane being developed by Rocketplane Ltd. in Oklahoma. The XP is a four seat fighter-sized spaceplane that uses turbojets for takeoff and landing and a liquid oxygen/kerosene rocket engine for main propulsion during its ascent to a 100 km apogee suborbital space flight. The XP is intended to serve a variety of markets including suborbital tourist flights, intermediate duration microgravity research, remote sensing, astronomy, and microsatellite launch missions. Changes in vehicle configuration and flight profile for serving each of these markets will be described. The prototype XP will have its rollout ceremony at the end of 2007 and will begin test flights in early 2008. Commercial space flight operations are expected to begin in fall 2008 with tourist flights and microgravity research flights being the early customer base. The spaceplane's flight systems, safety systems, and operating procedures will be reviewed. In addition, key elements of the Rocketplane business and financial model will be discussed.

Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions: clinical experience and literature review.

PubMed

He, Jian; Chen, Xiancheng; Gan, Weidong; Zhu, Bin; Fan, Xiangshan; Guo, Hongqian; Jia, Ruipeng

2015-01-01

To analyze the clinicopathological features of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 RCC) in our institution. We screened 983 RCC specimens. TFE3 immunohistochemical staining and FISH assay confirmed 22 Xp11.2 RCCs out of 65 suspicious cases. Clinicopathological and treatment outcomes of 22 patients were retrospectively analyzed. In total, 22 patients included 13 females and nine males with a mean age of 27 years. Ten patients showed gross hematuria. Treatments included surgeries, immunotherapy and molecular-targeted therapy. Seven cases were at stage III/IV and four cases had tumor thrombosis or distant metastasis. During a median follow-up of 34 months, 19 patients were alive while three died of distant metastasis. Xp11.2 RCC is rare and FISH proved a useful diagnostic tool. Surgical resection achieved favorable outcome for early disease. Adult patients at advanced stage had poorer outcomes even with postoperative adjuvant therapy.

Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: Involvement of the human ERCC2 DNA repair gene

DOE Office of Scientific and Technical Information (OSTI.GOV)

Flejter, W.L.; McDaniel, L.D.; Johns, D.

1992-01-01

Cultured cells from individuals afflicted with the genetically heterogeneous autosomal recessive disorder xeroderma pigmentosum (XP) exhibit sensitivity to UV radiation and defective nucleotide excision repair. Complementation of these mutant phenotypes after the introduction of single human chromosomes from repair-proficient cells into XP cells has provided a means of mapping the genes involved in this disease. The authors now report the phenotypic correction of XP cells from genetic complementation group D (XP-D) by a single human chromosome designated Tneo. Detailed molecular characterization of Tneo revealed a rearranged structure involving human chromosomes 16 and 19, including the excision repair cross-complementing 2 (ERCC2)more » gene from the previously described human DNA repair gene cluster at 19q13.2-q13.3. Direct transfer of a cosmid bearing the ERCC2 gene conferred UV resistance to XP-D cells.« less

Development of effective skin cancer treatment and prevention in xeroderma pigmentosum.

PubMed

Lambert, W Clark; Lambert, Muriel W

2015-01-01

Xeroderma pigmentosum (XP) is a rare, recessively transmitted genetic disease characterized by increasingly marked dyspigmentation and xerosis (dryness) of sun-exposed tissues, especially skin. Skin cancers characteristically develop in sun-exposed sites at very much earlier ages than in the general population; these are often multiple and hundreds or even thousands may develop. Eight complementation groups have been identified. Seven groups, XP-A…G, are associated with defective genes encoding proteins involved in the nucleotide excision DNA repair (NER) pathway that recognizes and excises mutagenic changes induced in DNA by sunlight; the eighth group, XP-V, is associated with defective translesion synthesis (TLS) bypassing such alterations. The dyspigmentation, xerosis and eventually carcinogenesis in XP patients appear to be due to their cells' failure to respond properly to these mutagenic DNA alterations, leading to mutations in skin cells. A subset of cases, especially those in some complementation groups, may develop neurological degeneration, which may be severe. However, in most XP patients, in the past the multiple skin cancers have led to death at an early age due to either metastases or sepsis. Using either topical 5-fluorouracil or imiquimod, we have developed a protocol that effectively prevents most skin cancer development in XP patients. © 2014 The American Society of Photobiology.

Xp11.2 translocation renal cell carcinoma.

PubMed

Armah, Henry B; Parwani, Anil V

2010-01-01

Xp11.2 translocation renal cell carcinomas (RCCs), a recently recognized distinct subtype, are rare tumors predominantly reported in young patients. They comprise at least one-third of pediatric RCCs, and only few adult cases have been reported. They are characterized by various translocations involving chromosome Xp11.2, all resulting in gene fusions involving the transcription factor E3 (TFE3) gene. In recent years, at least 6 different Xp11.2 translocation RCCs have been identified and characterized at the molecular level. These include a distinctive RCC that bears a translocation with the identical chromosomal breakpoints (Xp11.2, 17q25) and identical resulting ASPL-TFE3 gene fusion as alveolar soft part sarcoma. They typically have papillary or nested architecture and are composed of cells with voluminous, clear, or eosinophilic cytoplasm. Their most distinctive immunohistochemical feature is nuclear labeling for TFE3 protein. Although only limited data are available so far, they are believed to be rather indolent, but there have been increasing, recent reports of an aggressive clinical course in adult cases. The consistent immunohistochemical staining for TFE3 in all RCC with unusual histology, regardless of patient age, is likely to expand the spectrum of Xp11.2 translocation RCC with respect to age, clinical behavior, and molecular abnormalities.

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum

PubMed Central

Zhou, Xiaolong; Khan, Sikandar G; Tamura, Deborah; Ueda, Takahiro; Boyle, Jennifer; Compe, Emmanuel; Egly, Jean-Marc; DiGiovanna, John J; Kraemer, Kenneth H

2013-01-01

XPD (ERCC2) is a DNA helicase involved in nucleotide excision repair and in transcription as a structural bridge tying the transcription factor IIH (TFIIH) core with the cdk-activating kinase complex, which phosphorylates nuclear receptors. Mutations in XPD are associated with several different phenotypes, including trichothiodystrophy (TTD), with sulfur-deficient brittle hair, bone defects, and developmental abnormalities without skin cancer, xeroderma pigmentosum (XP), with pigmentary abnormalities and increased skin cancer, or XP/TTD with combined features, including skin cancer. We describe the varied clinical features and mutations in nine patients examined at the National Institutes of Health who were compound heterozygotes for XPD mutations but had different clinical phenotypes: four TTD, three XP, and two combined XP/TTD. We studied TFIIH-dependent transactivation by nuclear receptor for vitamin D (VDR) and thyroid in cells from these patients. The vitamin D stimulation ratio of CYP24 and osteopontin was associated with specific pairs of mutations (reduced in 5, elevated in 1) but not correlated with distinct clinical phenotypes. Thyroid receptor stimulation ratio for KLF9 was not significantly different from normal. XPD mutations frequently were associated with abnormal VDR stimulation in compound heterozygote patients with TTD, XP, or XP/TTD. PMID:23232694

Overexpression of CB2 cannabinoid receptors decreased vulnerability to anxiety and impaired anxiolytic action of alprazolam in mice.

PubMed

García-Gutiérrez, María S; Manzanares, Jorge

2011-01-01

Mice overexpressing CB2r (CB2xP) were exposed to open field (OF), light-dark box (LDB) and elevated plus maze (EPM) tests. Corticotropin-releasing factor (CRF) and pro-opiomelanocortin (POMC) mRNA were measured in paraventricular (PVN) and arcuate (ARC) nuclei of the hypothalamus after 30 minutes of restraint stress (RS). Anxiolytic effects of alprazolam (45 or 70 µg/kg, ip) were evaluated. GABA(A)α(2) and GABA(A)γ(2) mRNA were measured in the hippocampus (HIPP) and amygdala (AMY) of CB2xP and wild type (WT) mice. No differences were observed in the total distance travelled by CB2xP and WT mice in OF. Central and peripheral distances travelled significantly increased and decreased in CB2xP mice. Overexpression of CB2r reduced anxiety-like behaviours in LDB and EPM. In WT mice, RS increased CRF (82%) and POMC (42%) mRNA in the PVN and ARC nuclei, respectively. In CB2xP mice, RS also increased POMC (22%) mRNA in the ARC nucleus, but had no effect on CRF mRNA in the PVN nucleus. Administration of alprazolam was without effect in CB2xP mice. An increase of GABA(A)α(2) and GABA(A)γ(2) mRNA in the hippocampus and amygdala of CB2xP mice was observed. Our findings revealed that increased expression of CB2r significantly reduced anxiogenic-related behaviours, modified the response to stress and impaired the action of anxiolytic drugs.

Melanotic Xp11 translocation renal cancer: report of a case with a unique intratumoral sarcoid-like reaction.

PubMed

Ritterhouse, Lauren L; Cykowski, Matthew D; Hassell, Lewis A; Slobodov, Gennady; Bane, Barbara L

2014-04-15

Melanotic Xp11 translocation renal cancer is a rare tumor belonging to the family of microphthalmia-associated transcription factor (MiTF)/transcription factor E (TFE) neoplasms. This tumor family also includes alveolar soft part sarcoma, perivascular epithelioid cell neoplasms, Xp11 translocation renal cell carcinoma, and melanoma. To date, six confirmed melanotic Xp11 translocation cancers (five renal, one ovarian) have been reported in the literature. Here, we report the clinical, histologic, immunohistochemical, and molecular features of a unique melanotic Xp11 translocation renal cancer arising in a 34-year-old African-American female. Histologically, the tumor was composed of epithelioid tumor cells arranged in a nested pattern. The cells had clear to eosinophilic granular cytoplasm, vesicular nuclear chromatin, and prominent nucleoli. Multifocal intracytoplasmic deposits of granular brown melanin pigment were identified and confirmed by Fontana-Masson stain. An unusual histologic feature, not previously reported in melanotic Xp11 translocation renal cancer, was a sarcoid-like granulomatous reaction consisting of tight epithelioid granulomas with lymphocytic cuffing, numerous giant cells, and calcifications. Nuclear transcription factor E3 expression was identified by immunohistochemistry and TFE3 rearrangement was confirmed by fluorescence in situ hybridization. Additional immunohistochemical findings included immunoreactivity for HMB45, cathepsin K, and progesterone receptor; negative staining was seen with actin, desmin, cytokeratins, epithelial membrane antigen, CD10, vimentin, and PAX-8. The patient is currently free of disease, two years following initial clinicoradiologic presentation and twenty-two months following partial nephrectomy without additional therapy. This report further expands the spectrum of morphologic and clinical findings previously described in melanotic Xp11 translocation renal cancer, a distinctive tumor showing overlapping features between Xp11 translocation renal cell carcinoma, melanoma, and perivascular epithelioid cell neoplasms. The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/7225796341180634.

Cu3-xP Nanocrystals as a Material Platform for Near-Infrared Plasmonics and Cation Exchange Reactions

PubMed Central

2015-01-01

Synthesis approaches to colloidal Cu3P nanocrystals (NCs) have been recently developed, and their optical absorption features in the near-infrared (NIR) have been interpreted as arising from a localized surface plasmon resonance (LSPR). Our pump–probe measurements on platelet-shaped Cu3-xP NCs corroborate the plasmonic character of this absorption. In accordance with studies on crystal structure analysis of Cu3P dating back to the 1970s, our density functional calculations indicate that this material is substoichiometric in copper, since the energy of formation of Cu vacancies in certain crystallographic sites is negative, that is, they are thermodynamically favored. Also, thermoelectric measurements point to a p-type behavior of the majority carriers from films of Cu3-xP NCs. It is likely that both the LSPR and the p-type character of our Cu3-xP NCs arise from the presence of a large number of Cu vacancies in such NCs. Motivated by the presence of Cu vacancies that facilitate the ion diffusion, we have additionally exploited Cu3-xP NCs as a starting material on which to probe cation exchange reactions. We demonstrate here that Cu3-xP NCs can be easily cation-exchanged to hexagonal wurtzite InP NCs, with preservation of the anion framework (the anion framework in Cu3-xP is very close to that of wurtzite InP). Intermediate steps in this reaction are represented by Cu3-xP/InP heterostructures, as a consequence of the fact that the exchange between Cu+ and In3+ ions starts from the peripheral corners of each NC and gradually evolves toward the center. The feasibility of this transformation makes Cu3-xP NCs an interesting material platform from which to access other metal phosphides by cation exchange. PMID:25960605

A Multi-purpose Brain-Computer Interface Output Device

PubMed Central

Thompson, David E; Huggins, Jane E

2012-01-01

While brain-computer interfaces (BCIs) are a promising alternative access pathway for individuals with severe motor impairments, many BCI systems are designed as standalone communication and control systems, rather than as interfaces to existing systems built for these purposes. While an individual communication and control system may be powerful or flexible, no single system can compete with the variety of options available in the commercial assistive technology (AT) market. BCIs could instead be used as an interface to these existing AT devices and products, which are designed for improving access and agency of people with disabilities and are highly configurable to individual user needs. However, interfacing with each AT device and program requires significant time and effort on the part of researchers and clinicians. This work presents the Multi-Purpose BCI Output Device (MBOD), a tool to help researchers and clinicians provide BCI control of many forms of AT in a plug-and-play fashion, i.e. without the installation of drivers or software on the AT device, and a proof-of-concept of the practicality of such an approach. The MBOD was designed to meet the goals of target device compatibility, BCI input device compatibility, convenience, and intuitive command structure. The MBOD was successfully used to interface a BCI with multiple AT devices (including two wheelchair seating systems), as well as computers running Windows (XP and 7), Mac and Ubuntu Linux operating systems. PMID:22208120

A multi-purpose brain-computer interface output device.

PubMed

Thompson, David E; Huggins, Jane E

2011-10-01

While brain-computer interfaces (BCIs) are a promising alternative access pathway for individuals with severe motor impairments, many BCI systems are designed as stand-alone communication and control systems, rather than as interfaces to existing systems built for these purposes. An individual communication and control system may be powerful or flexible, but no single system can compete with the variety of options available in the commercial assistive technology (AT) market. BCls could instead be used as an interface to these existing AT devices and products, which are designed for improving access and agency of people with disabilities and are highly configurable to individual user needs. However, interfacing with each AT device and program requires significant time and effort on the part of researchers and clinicians. This work presents the Multi-Purpose BCI Output Device (MBOD), a tool to help researchers and clinicians provide BCI control of many forms of AT in a plug-and-play fashion, i.e., without the installation of drivers or software on the AT device, and a proof-of-concept of the practicality of such an approach. The MBOD was designed to meet the goals of target device compatibility, BCI input device compatibility, convenience, and intuitive command structure. The MBOD was successfully used to interface a BCI with multiple AT devices (including two wheelchair seating systems), as well as computers running Windows (XP and 7), Mac and Ubuntu Linux operating systems.

Reactive Collision Avoidance of UAVs withStereovision Sensing

DTIC Science & Technology

2014-01-17

terms of homogeneous coordinates. Mxw = 0 Where M =  m11 m12 m13 m14 m21 m22 m23 m24 m31 m32 m33 m34 m41 m42 m43 m44  (4.15) 50 m11 = p11 − xp...1 p31 , m12 = p12 − xp 1 p32 m13 = p13 − xp 1 p33 , m14 = p14 − xp 1 p34 m21 = p21 − yp 1 p31 , m22 = p22 − yp 1 p32 m23 = p23 − yp 1 p33 , m24 = p24

[Gingival displacement techniques in daily practice. Survey among dental surgeons in Abidjan, Ivory Coast].

PubMed

Pesson, D M; Bakou, O D; Didia, E L E; Kouame, A; Blohoua, M R J J; Djeredou, K B

2015-12-01

Access to cervical margins allows the practitioner to record the entire cervical margin in order to provide a true copy to the technician. This requires a gingival displacement obtainable by different techniques. This study aimed to assess the implementation of gingival displacement methods prior to impression taking in fixed prosthodontics. This is a descriptive and cross-sectional survey of sample of 71 dentists practising in Abidjan, Ivory Coast; which ran from October 2nd, 2010 to November 14th, 2010. A survey form was administered to dentists. The questionnaire was organised around the following headings: identification of dentists and practice of gingival displacement methods. The data processing done using software Epi Info 6 and Excel XP on Window XP, allowed calculation of frequencies, means and proportions and the establishment of connection between variables with the chi2 test. The significance level was set at p < 0.05. The results of the survey indicate that non-surgical methods of gingival displacement, including retraction cords and temporary crowns are those they use most frequently (76.4%) because the vast majority of practitioners (87.22%) believe the most traumatic to the periodontium are surgical methods. Our study showed that the gingival displacement methods are frequently carried out in daily practice, regardless of the topography of the abutment teeth and their number, but with a preference for non-surgical methods, particularly those using retraction cords and temporary crowns. The use of injectable gingival displacement paste is not harmful to the periodontal tissues, easy to use and have a very efficient haemostatic action. It should also be known and practiced.

An Introduction to X Window Application Development

DTIC Science & Technology

1992-03-23

Acquisition and Policy Evaluation program using Cognitive Feed- back ( ESKAPE /CF) from the SunView windowing system to X Window. The new application...the generic X Window System. This thesis converts an Expert System Knowledge Acquisition and Policy Evaluation program using Cognitive Feedback ( ESKAPE ...15 IV. XESKAPE/CF: THE X WINDOW VERSION OF ESKAPE /CF ........................ 16 A. FUNCTIONAL COMPARISON TO

Ocular manifestations of xeroderma pigmentosum: long term follow-up highlights the role of DNA repair in protection from sun damage

PubMed Central

Brooks, Brian P; Thompson, Amy H; Bishop, Rachel J; Clayton, Janine A; Chan, Chi-Chao; Tsilou, Ekaterini T; Zein, Wadih M; Tamura, Deborah; Khan, Sikandar G.; Ueda, Takahiro; Boyle, Jennifer; Oh, Kyu-Seon; Imoto, Kyoko; Inui, Hiroki; Moriwaki, Shin-Ichi; Emmert, Steffen; Iliff, Nicholas T.; Bradford, Porcia; DiGiovanna, John J.; Kraemer, Kenneth H

2013-01-01

Objective Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations of XP include mild to extreme sensitivity to ultraviolet radiation resulting in inflammation and neoplasia in sun-exposed areas of the skin, mucous membranes, and ocular surfaces. This report describes the ocular manifestations of XP in patients systematically evaluated in the Clinical Center at the National Institutes of Health. Design Retrospective Observational Case Series Participants Eighty-seven participants, aged 1.3 to 63.4 years, referred to the National Eye Institute for examination from 1964 to 2011. Eighty-three had XP, 3 had XP/Cockayne Syndrome complex, and 1 had XP/trichothiodystrophy complex. Methods Complete, age- and developmental stage-appropriate ophthalmic examination. Main Outcome Measures Visual acuity; eyelid, ocular surface and lens pathology; tear film and tear production measures; and cytological analysis of conjunctival surface swabs. Results Of the 87 patients, 91% had at least one ocular abnormality. The most common abnormalities were conjunctivitis (51%), corneal neovascularization (44%), dry eye (38%), corneal scarring (26%), ectropion (25%), blepharitis (23%), conjunctival melanosis (20%), and cataracts (14%). Thirteen percent of patients had some degree of visual axis impingement and 5% had no light perception in one or both eyes. Ocular surface cancer or a history of ocular surface cancer was present in 10% of patients. Patients with an acute sunburning skin phenotype were less likely to develop conjunctival melanosis and ectropion but more likely to develop neoplastic ocular surface lesions than non-burning patients. Some patients also showed signs of limbal stem cell deficiency. Conclusions Our longitudinal study reports the ocular status of the largest group of XP patients systematically examined at one facility over an extended period of time. Structural eyelid abnormalities, neoplasms of the ocular surface and eyelids, tear film and tear production abnormalities, ocular surface disease and inflammation, as well as corneal abnormalities were present in this population. Burning and non-burning XP patients exhibit different rates of important ophthalmologic findings, including neoplasia. Additionally, ophthalmic characteristics can help refine diagnoses in the case of XP complex phenotypes. DNA repair plays major role in protection of the eye from sunlight induced damage. PMID:23601806

Newly Designed Break-Apart and ASPL-TFE3 Dual-Fusion FISH Assay Are Useful in Diagnosing Xp11.2 Translocation Renal Cell Carcinoma and ASPL-TFE3 Renal Cell Carcinoma

PubMed Central

Chen, Xiancheng; Yang, Yang; Gan, Weidong; Xu, Linfeng; Ye, Qing; Guo, Hongqian

2015-01-01

Abstract The diagnosis of Xp11.2 translocation renal cell carcinoma (tRCC), which relies on morphology and immunohistochemistry (IHC), is often either missed in the diagnosis or misdiagnosed. To improve the accuracy of diagnosis of Xp11.2 tRCC and ASPL-TFE3 renal cell carcinoma (RCC), we investigated newly designed fluorescence in situ hybridization (FISH) probes (diagnostic accuracy study). Based on the genetic characteristics of Xp11.2 tRCC and the ASPL-TFE3 RCC, a new break-apart TFE3 FISH probe and an ASPL-TFE3 dual-fusion FISH probe were designed and applied to 65 patients with RCC who were <45 years old or showed suspicious microscopic features of Xp11.2 tRCC in our hospital. To test the accuracy of the probes, we further performed reverse transcriptase–polymerase chain reaction (PCR) on 8 cases for which frozen tissues were available. Among the 65 cases diagnosed with RCC, TFE3 IHC was positive in 24 cases. Twenty-two cases were confirmed as Xp11.2 tRCC by break-apart TFE3 FISH, and 6 of these cases were further diagnosed as ASPL-TFE3 RCC by ASPL-TFE3 dual-fusion FISH detection. Importantly, reverse transcriptase–PCR showed concordant results with the results of FISH assay in the 8 available frozen cases. The break-apart and ASPL-TFE3 dual-fusion FISH assay can accurately detect the translocation of the TFE3 gene and ASPL-TFE3 fusion gene and can thus serve as a valid complementary method for diagnosing Xp11.2 tRCC and ASPL-TFE3 RCC. PMID:25984679

Newly designed break-apart and ASPL-TFE3 dual-fusion FISH assay are useful in diagnosing Xp11.2 translocation renal cell carcinoma and ASPL-TFE3 renal cell carcinoma: a STARD-compliant article.

PubMed

Chen, Xiancheng; Yang, Yang; Gan, Weidong; Xu, Linfeng; Ye, Qing; Guo, Hongqian

2015-05-01

The diagnosis of Xp11.2 translocation renal cell carcinoma (tRCC), which relies on morphology and immunohistochemistry (IHC), is often either missed in the diagnosis or misdiagnosed. To improve the accuracy of diagnosis of Xp11.2 tRCC and ASPL-TFE3 renal cell carcinoma (RCC), we investigated newly designed fluorescence in situ hybridization (FISH) probes (diagnostic accuracy study).Based on the genetic characteristics of Xp11.2 tRCC and the ASPL-TFE3 RCC, a new break-apart TFE3 FISH probe and an ASPL-TFE3 dual-fusion FISH probe were designed and applied to 65 patients with RCC who were <45 years old or showed suspicious microscopic features of Xp11.2 tRCC in our hospital. To test the accuracy of the probes, we further performed reverse transcriptase-polymerase chain reaction (PCR) on 8 cases for which frozen tissues were available.Among the 65 cases diagnosed with RCC, TFE3 IHC was positive in 24 cases. Twenty-two cases were confirmed as Xp11.2 tRCC by break-apart TFE3 FISH, and 6 of these cases were further diagnosed as ASPL-TFE3 RCC by ASPL-TFE3 dual-fusion FISH detection. Importantly, reverse transcriptase-PCR showed concordant results with the results of FISH assay in the 8 available frozen cases.The break-apart and ASPL-TFE3 dual-fusion FISH assay can accurately detect the translocation of the TFE3 gene and ASPL-TFE3 fusion gene and can thus serve as a valid complementary method for diagnosing Xp11.2 tRCC and ASPL-TFE3 RCC.

CANCER AND NEUROLOGIC DEGENERATION IN XERODERMA PIGMENTOSUM: LONG TERM FOLLOW-UP CHARACTERIZES THE ROLE OF DNA REPAIR

PubMed Central

Bradford, Porcia T.; Goldstein, Alisa M.; Tamura, Deborah; Khan, Sikandar G.; Ueda, Takahiro; Boyle, Jennifer; Oh, Kyu-Seon; Imoto, Kyoko; Inui, Hiroki; Moriwaki, Shin-Ichi; Emmert, Steffen; Pike, Kristen M.; Raziuddin, Arati; Plona, Teri M.; DiGiovanna, John J.; Tucker, Margaret A.; Kraemer, Kenneth H.

2011-01-01

Background We determined the frequency of cancer, neurologic degeneration and mortality in xeroderma pigmentosum (XP) patients with defective DNA repair in a four decade natural history study. Methods All 106 XP patients admitted to the NIH from 1971 to 2009 were evaluated from clinical records and follow-up. Results In the 65 percent (n=69) of patients with skin cancer, non-melanoma skin cancer (NMSC) was increased 10,000–fold and melanoma was increased 2,000-fold in patients under age 20. The 9 year median age at diagnosis of first non-melanoma skin cancer (NMSC) (n=64) was significantly younger than the 22 year median age at diagnosis of first melanoma (n= 38), a relative age reversal from the general population suggesting different mechanisms of carcinogenesis between NMSC and melanoma. XP patients with marked burning on minimal sun exposure (n=65) were less likely to develop skin cancer than those who did not. This may be related to the extreme sun protection they receive from an earlier age, decreasing their total UV exposure. Progressive neurologic degeneration was present in 24% (n=25) with 16/25 in complementation group XP-D. The most common causes of death were skin cancer (34%, n=10), neurologic degeneration (31%, n=9), and internal cancer (17%, n=5). The median age at death (29 years) in XP patients with neurodegeneration was significantly younger than those XP patients without neurodegeneration (37 years) (p=0.02). Conclusion This 39 year follow-up study of XP patients indicates a major role of DNA repair genes in the etiology of skin cancer and neurologic degeneration. PMID:21097776

Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3

DOE Office of Scientific and Technical Information (OSTI.GOV)

Vermeulen, W.; Kleijer, W.J.; Bootsma, D.

1994-02-01

The human DNA excision repair gene ERCC3 specifically corrects the nucleotide excision repair (NER) defect of xeroderma pigmentosum (XP) complementation group B. In addition to its function in NER, the ERCC3 DNA helicase was recently identified as one of the components of the human BTF2/TFIIH transcription factor complex, which is required for initiation of transcription of class II genes. To date, a single patient (XP11BE) has been assigned to this XP group B (XP-B), with the remarkable conjunction of two autosomal recessive DNA repair deficiency disorders: XP and Cockayne syndrome (CS). The intriguing involvement of the ERCC3 protein in themore » vital process of transcription may provide an explanation for the rarity, severity, and wide spectrum of clinical features in this complementation group. Here the authors report the identification of two new XP-B patients: XPCS1BA and XPCS2BA (siblings), by microneedle injection of the cloned ERCC3 repair gene as well as by cell hybridization. Molecular analysis of the ERCC3 gene in both patients revealed a single base substitution causing a missense mutation in a region that is completely conserved in yeast, Drosophila, mouse, and human ERCC3. As in patient XP11BE, the expression of only one allele (paternal) is detected. The mutation causes a virtually complete inactivation of the NER function of the protein. Despite this severe NER defect, both patients display a late onset of neurologic impairment, mild cutaneous symptoms, and a striking absence of skin tumors even at an age of >40 years. Analysis of the frequency of hprt[sup [minus

Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany

DOE Office of Scientific and Technical Information (OSTI.GOV)

Thielmann, H.W.; Popanda, O.; Edler, L.

1991-07-01

Sixty-one xeroderma pigmentosum (XP) patients living in the Federal Republic of Germany were investigated. Clinical symptoms were correlated with DNA repair parameters measured in fibroblasts grown from skin biopsies. Classification according to the international complementation groups revealed that of the 61 patients 3 belonged to group A, 26 to group C, 16 to group D, 3 to group E, and 2 to group F; 11 were of the XP variant type. A striking clinical aspect was the frequency of histogenetically different skin tumors varying from one XP complementation group to the other: squamous and basal cell carcinomas predominated in XPmore » group C; lentigo maligna melanomas were most frequent in group D; basal cell carcinomas occurred preferentially in group E and XP variants. Three DNA repair parameters were determined for 46 fibroblast strains: colony-forming ability (D0); DNA repair synthesis (G0); and DNA-incising capacity (E0). Dose-response experiments with up to 13 dose levels were performed throughout to achieve sufficient experimental accuracy. DNA-damaging treatments included UV light, the 'UV-like' carcinogen N-acetoxy-2-acetylaminofluorene, and the alkylating carcinogens methyl methanesulfonate and N-methyl-N-nitrosourea. Comparison of clinical signs and repair data was made on the basis of D0, G0, and E0 values of both individual cell strains and weighted means of XP complementation groups. Despite considerable clinical and biochemical heterogeneity within complementation groups distinctive features emerged. In general, D0, G0, and E0 values of all XP strains investigated, including XP variants, were found to be reduced upon treatment with UV light or N-acetoxy-2-acetylaminofluorene.« less

Location of Dual Sites in E. coli FtsZ Important for Degradation by ClpXP; One at the C-Terminus and One in the Disordered Linker

PubMed Central

Camberg, Jodi L.; Viola, Marissa G.; Rea, Leslie; Hoskins, Joel R.; Wickner, Sue

2014-01-01

ClpXP is a two-component ATP-dependent protease that unfolds and degrades proteins bearing specific recognition signals. One substrate degraded by Escherichia coli ClpXP is FtsZ, an essential cell division protein. FtsZ forms polymers that assemble into a large ring-like structure, termed the Z-ring, during cell division at the site of constriction. The FtsZ monomer is composed of an N-terminal polymerization domain, an unstructured linker region and a C-terminal conserved region. To better understand substrate selection by ClpXP, we engineered FtsZ mutant proteins containing amino acid substitutions or deletions near the FtsZ C-terminus. We identified two discrete regions of FtsZ important for degradation of both FtsZ monomers and polymers by ClpXP in vitro. One region is located 30 residues away from the C-terminus in the unstructured linker region that connects the polymerization domain to the C-terminal region. The other region is near the FtsZ C-terminus and partially overlaps the recognition sites for several other FtsZ-interacting proteins, including MinC, ZipA and FtsA. Mutation of either region caused the protein to be more stable and mutation of both caused an additive effect, suggesting that both regions are important. We also observed that in vitro MinC inhibits degradation of FtsZ by ClpXP, suggesting that some of the same residues in the C-terminal site that are important for degradation by ClpXP are important for binding MinC. PMID:24722340

Scintillation Control for Adaptive Optical Sensors

DTIC Science & Technology

1999-09-21

defining where one influence function goes to zero fall directly under the peaks of the adjoining influcence functions. These actuators were fit to ^>gp(i...not orthogonal the influence function interaction matrix R must be computed with elements given by [3] rH = J dxPW(xp)e/b(xp)e,(xp). (22) In our...control signals can be found from the wave front phase by the least squares phase reconstruction technique [3]. An influence function and the

X-Windows Information Sharing Protocol Widget Class

NASA Technical Reports Server (NTRS)

Barry, Matthew R.

2006-01-01

The X-Windows Information Sharing Protocol (ISP) Widget Class ("Class") is used here in the object-oriented-programming sense of the word) was devised to simplify the task of implementing ISP graphical-user-interface (GUI) computer programs. ISP programming tasks require many method calls to identify, query, and interpret the connections and messages exchanged between a client and an ISP server. Most X-Windows GUI programs use widget sets or toolkits to facilitate management of complex objects. The widget standards facilitate construction of toolkits and application programs. The X-Windows Information Sharing Protocol (ISP) Widget Class encapsulates the client side of the ISP programming libraries within the framework of an X-Windows widget. Using the widget framework, X-Windows GUI programs can interact with ISP services in an abstract way and in the same manner as that of other graphical widgets, making it easier to write ISP GUI client programs. Wrapping ISP client services inside a widget framework enables a programmer to treat an ISP server interface as though it were a GUI. Moreover, an alternate subclass could implement another communication protocol in the same sort of widget.

UniGene Tabulator: a full parser for the UniGene format.

PubMed

Lenzi, Luca; Frabetti, Flavia; Facchin, Federica; Casadei, Raffaella; Vitale, Lorenza; Canaider, Silvia; Carinci, Paolo; Zannotti, Maria; Strippoli, Pierluigi

2006-10-15

UniGene Tabulator 1.0 provides a solution for full parsing of UniGene flat file format; it implements a structured graphical representation of each data field present in UniGene following import into a common database managing system usable in a personal computer. This database includes related tables for sequence, protein similarity, sequence-tagged site (STS) and transcript map interval (TXMAP) data, plus a summary table where each record represents a UniGene cluster. UniGene Tabulator enables full local management of UniGene data, allowing parsing, querying, indexing, retrieving, exporting and analysis of UniGene data in a relational database form, usable on Macintosh (OS X 10.3.9 or later) and Windows (2000, with service pack 4, XP, with service pack 2 or later) operating systems-based computers. The current release, including both the FileMaker runtime applications, is freely available at http://apollo11.isto.unibo.it/software/

Cyclic and Torsional Fatigue Resistance of XP-endo Shaper and TRUShape Instruments.

PubMed

Silva, Emmanuel João Nogueira Leal; Vieira, Victor Talarico Leal; Belladonna, Felipe Gonçalves; Zuolo, Arthur de Siqueira; Antunes, Henrique Dos Santos; Cavalcante, Daniele Moreira; Elias, Carlos Nelson; De-Deus, Gustavo

2018-01-01

The purpose of this study was to evaluate the cyclic and torsional fatigue resistance of the XP-endo Shaper (FKG Dentaire, La Chaux-de-Fonds, Switzerland) and TRUShape (Dentsply Tulsa Dental Specialties, Tulsa, OK) instruments. Twenty XP-endo Shaper (30/0.01) instruments and 20 TRUShape (30/0.06v) instruments were used. Cyclic fatigue resistance was tested by measuring the number of cycles and time to fracture in an artificial stainless steel canal with a 60° angle and a 5-mm radius of curvature (n = 10). The torque and angle of rotation at failure of new instruments (n = 10) were measured according to ISO 3630-1. The fracture surface of all fragments was examined with a scanning electron microscope. Results were statistically analyzed using the Student t test at a significance level of P < .05. The XP-endo Shaper instruments showed a significantly longer number of cycles to fracture and time to failure in seconds than the TRUShape instruments (P < .05). The XP-endo Shaper also presented a lower maximum torque load (P < .05) but a significantly higher angular rotation to fracture than TRUShape (P < .05). The XP-endo Shaper instruments showed a higher cyclic fatigue resistance and angle of rotation to fracture but lower torque to failure than TRUShape instruments. Copyright © 2017 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

The Case for 8, 5’-Cyclopurine-2’-Deoxynucleosides as Endogenous DNA Lesions That Cause Neurodegeneration in Xeroderma Pigmentosum

PubMed Central

Brooks, PJ

2007-01-01

Patients with the genetic disease xeroderma pigmentosum (XP) lack the capacity to carry out a specific type of DNA repair process called nucleotide excision repair (NER). The NER pathway plays a critical role in the repair of DNA damage resulting from UV radiation. A subset of XP patients develop a profound neurodegenerative condition known as XP neurological disease. Robbins and colleagues (PNAS 75:1984–88, 1978) hypothesized that since UV light cannot reach into the human brain, XP neurological disease results from some form of endogenous DNA damage that is normally repaired by the NER pathway. In the absence of NER, the damage accumulates, causing neuronal death by blocking transcription. In this manuscript, I consider the evidence that a particular class of oxidative DNA lesions, the 8, 5’-cyclopurine-2’-deoxynucleosides, fulfills many of the criteria expected of neurodegenerative DNA lesions in XP. Specifically, these lesions are chemically stable, endogenous DNA lesions that are repaired by the NER pathway but not by any other known process, and strongly block transcription by RNA polymerase II in cells from XP patients. A similar set of criteria might be used to evaluate other candidate DNA lesions responsible for neurological diseases resulting from defects in other DNA repair mechanisms as well. PMID:17184928

Clinicopathological features of Xp11.2 translocation renal cell carcinoma.

PubMed

Lim, Bumjin; You, Dalsan; Jeong, In Gab; Kwon, Taekmin; Hong, Sungwoo; Song, Cheryn; Cho, Yong Mee; Hong, Bumsik; Hong, Jun Hyuk; Ahn, Hanjong; Kim, Choung Soo

2015-03-01

Xp11.2 translocation renal cell carcinoma (RCC) is characterized by various translocations of the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults. Here, we review the clinicopathological features of Xp11.2 translocation RCC. We identified 21 patients with Xp11.2 translocation RCC. We retrospectively analyzed patient characteristics, clinical manifestations, and specific pathological features to assess definitive diagnosis, surgical and systemic treatments, and clinical outcomes. The mean age at diagnosis was 43.4±20.0 years (range, 8-80 years; 8 males and 13 females). Eleven patients were incidentally diagnosed, nine patients presented with local symptoms, and one patient presented with systemic symptoms. The mean tumor size was 6.2±3.8 cm (range, 1.9-14 cm). At the time of diagnosis, 11, 1, and 5 patients showed stage I, II, and III, respectively. Four patients showed distant metastasis. At analysis, 15 patients were disease-free after a median follow-up period of 30.0 months. Four patients received target therapy but not effectively. Xp11 translocation RCC tends to develop in young patients with lymph node metastasis. Targeted therapy did not effectively treat our patients. Surgery is the only effective therapy for Xp11 translocation RCC, and further studies are needed to assess systemic therapy and long-term prognosis.

Clinicopathological features of Xp11.2 translocation renal cell carcinoma

PubMed Central

Lim, Bumjin; You, Dalsan; Jeong, In Gab; Kwon, Taekmin; Hong, Sungwoo; Song, Cheryn; Cho, Yong Mee; Hong, Bumsik; Hong, Jun Hyuk; Ahn, Hanjong

2015-01-01

Purpose Xp11.2 translocation renal cell carcinoma (RCC) is characterized by various translocations of the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults. Here, we review the clinicopathological features of Xp11.2 translocation RCC. Materials and Methods We identified 21 patients with Xp11.2 translocation RCC. We retrospectively analyzed patient characteristics, clinical manifestations, and specific pathological features to assess definitive diagnosis, surgical and systemic treatments, and clinical outcomes. Results The mean age at diagnosis was 43.4±20.0 years (range, 8-80 years; 8 males and 13 females). Eleven patients were incidentally diagnosed, nine patients presented with local symptoms, and one patient presented with systemic symptoms. The mean tumor size was 6.2±3.8 cm (range, 1.9-14 cm). At the time of diagnosis, 11, 1, and 5 patients showed stage I, II, and III, respectively. Four patients showed distant metastasis. At analysis, 15 patients were disease-free after a median follow-up period of 30.0 months. Four patients received target therapy but not effectively. Conclusions Xp11 translocation RCC tends to develop in young patients with lymph node metastasis. Targeted therapy did not effectively treat our patients. Surgery is the only effective therapy for Xp11 translocation RCC, and further studies are needed to assess systemic therapy and long-term prognosis. PMID:25763125

Complementation of DNA repair defect in xeroderma pigmentosum cells of group C by the transfer of human chromosome 5

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kaur, G.P.; Athwal, R.S.

1993-01-01

Complementation of DNA excision repair defect in xeroderma pigmentosum cells of group C (XP-C) has been achieved by the transfer of human chromosome 5. Individual human chromosomes tagged with a selectable marker were transferred to XP-C cells by microcell fusion from mouse-human hybrid cell lines each bearing a single different human chromosome. Analysis of the chromosome transfer clones revealed that introduction of chromosome 5 into XP-C cells corrected the DNA repair defect as well as UV-sensitive phenotypes, while chromosomes 2, 6, 7, 9, 13, 15, 17, and 21 failed to complement. The introduced chromosome 5 in complemented UV[sup r] clonesmore » was distinguished from the parental XP-C chromosomes by polymorphism for dinucleotide (CA)[sub n] repeats at two loci, D5S117 and D5S209. In addition, an intact marked chromosome 5 was rescued into mouse cells from a complemented UV[sup r] clone by microcell fusion. Five subclones of a complemented clone that had lost the marked chromosome 5 exhibited UV-sensitive and repair-deficient phenotypes identical to parental XP-C cells. Concordant loss of the transferred chromosome and reappearance of XP-C phenotype further confirmed the presence of a DNA repair gene on human chromosome 5. 38 refs., 7 figs., 1 tab.« less

Generation of Xeroderma Pigmentosum-A Patient-Derived Induced Pluripotent Stem Cell Line for Use As Future Disease Model.

PubMed

Ohnishi, Hiroe; Kawasaki, Takashi; Deguchi, Tomonori; Yuba, Shunsuke

2015-08-01

Xeroderma pigmentosum group A (XP-A) is a genetic disorder in which there is an abnormality in nucleotide excision repair that causes hypersensitivity to sunlight and multiple skin cancers. The development of central and peripheral neurological disorders not correlated to ultraviolet light exposure is associated with XP-A. The genes responsible for XP-A have been identified and a XPA knockout mouse has been generated. These knockout mice exhibit cutaneous symptoms, but they do not show neurological disorders. The mechanism of pathogenesis of neurological disorders is still unclear and therapeutic methods have not been established. Therefore, we generated XP-A patient-derived human induced pluripotent stem cells (XPA-iPSCs) to produce in vitro models of neurological disorders. We obtained iPSC lines from fibroblasts of two patients carrying different mutations. Drugs screened using XPA-iPSC lines can be helpful for treating XP-A patients in Japan. Additionally, we revealed that these iPSCs have the potential to differentiate into neural lineage cells, including dopaminergic neurons, which decrease in XP-A patients. Our results indicate that expression of the normal XPA gene without mutations is not required for generation of iPSCs and differentiation of iPSCs into neural lineage cells. XPA-iPSCs may become useful models that clarify our understanding of neurological pathogenesis and help to establish therapeutic methods.

Efficient Windows Collaborative

DOE Office of Scientific and Technical Information (OSTI.GOV)

Nils Petermann

2010-02-28

The project goals covered both the residential and commercial windows markets and involved a range of audiences such as window manufacturers, builders, homeowners, design professionals, utilities, and public agencies. Essential goals included: (1) Creation of 'Master Toolkits' of information that integrate diverse tools, rating systems, and incentive programs, customized for key audiences such as window manufacturers, design professionals, and utility programs. (2) Delivery of education and outreach programs to multiple audiences through conference presentations, publication of articles for builders and other industry professionals, and targeted dissemination of efficient window curricula to professionals and students. (3) Design and implementation of mechanismsmore » to encourage and track sales of more efficient products through the existing Window Products Database as an incentive for manufacturers to improve products and participate in programs such as NFRC and ENERGY STAR. (4) Development of utility incentive programs to promote more efficient residential and commercial windows. Partnership with regional and local entities on the development of programs and customized information to move the market toward the highest performing products. An overarching project goal was to ensure that different audiences adopt and use the developed information, design and promotion tools and thus increase the market penetration of energy efficient fenestration products. In particular, a crucial success criterion was to move gas and electric utilities to increase the promotion of energy efficient windows through demand side management programs as an important step toward increasing the market share of energy efficient windows.« less

Nucleotide Excision Repair Proteins Rapidly Accumulate but Fail to Persist in Human XP-E (DDB2 Mutant) Cells

PubMed Central

Oh, Kyu-Seon; Imoto, Kyoko; Emmert, Steffen; Tamura, Deborah; DiGiovanna, John J.; Kraemer, Kenneth. H.

2011-01-01

The XP-E DNA damage binding protein (DDB2) is involved in early recognition of global genome DNA damage during DNA nucleotide excision repair (NER). We found that skin fibroblasts from 4 newly reported XP-E patients with numerous skin cancers and DDB2 mutations had slow repair of 6-4 photoproducts (6-4PP) and markedly reduced repair of cyclobutane pyrimidine dimers (CPD). NER proteins (XPC, XPB, XPG, XPA, and XPF) co-localized to CPD and 6-4PP positive regions immediately (< 0.1h) after localized UV irradiation in cells from the XP-E patients and normal controls. While these proteins persist in normal cells, surprisingly, within 0.5h these repair proteins were no longer detectable at the sites of DNA damage in XP-E cells. Our results indicate that DDB2 is not required for the rapid recruitment of NER proteins to sites of UV photoproducts or for partial repair of 6-4PP but is essential for normal persistence of these proteins for CPD photoproduct removal. PMID:21388382

A case of metastatic Xp11.2 translocation renal cell carcinoma successfully managed by cytoreductive nephrectomy followed by axitinib therapy.

PubMed

Nishimura, Koichi; Takagi, Toshio; Toda, Naohiro; Yamamoto, Tomoko; Kondo, Tsunenori; Ishida, Hideki; Nagashima, Yoji; Tanabe, Kazunari

2017-03-01

Targeted medications for metastatic adult Xp11.2 translocation renal cell carcinoma (RCC) remain to be identified. We herein report a case of metastatic Xp11.2 translocation RCC controlled with cytoreductive nephrectomy (CN) and axitinib therapy. A 57-year-old woman complained of fatigue and low back pain. Imaging studies revealed a right renal tumor, with multiple lung and mediastinal lymph node metastases. Although the patient received 10 mg axitinib therapy for 5 months at the hospital she was initially admitted to, the size of the primary and metastatic lesions was not reduced. Thus, she was referred to the Tokyo Women's Medical University Hospital (Tokyo, Japan) for further treatment, where she underwent CN. On macroscopic examination, almost the entire kidney was replaced by a yellowish brown tumor >80 mm in diameter. Immunohistochemical examination confirmed the diagnosis of Xp11.2 translocation RCC. One month after surgery, axitinib therapy was resumed and the size of the metastatic lesions gradually decreased. These findings suggest that axitinib therapy is effective for adult Xp11.2 translocation RCC.

Xp11.2 translocation renal cell carcinoma with multiple bone metastases: A case report

PubMed Central

LIU, JIAJU; SU, ZHENGMING; LI, YIFAN; CHEN, DUQUN; NI, LIANGCHAO; MAO, XIANGMING; YANG, SHANGQI; LAI, YONGQING

2016-01-01

Xp11.2 translocation/transcription factor enhancer 3 (TFE3) fusion gene associated with renal cell carcinoma (Xp11.2 translocation RCC) is rare and occurs predominantly in children and adolescents. The current study reports the case of a 14-year-old male with Xp11.2 translocation RCC, who presented with chest pain that had persisted for 1 month. A solid neoplasm was located in the left kidney of the patient. Contrast-enhanced computed tomography revealed the presence of a solid mass in the kidney, with uneven enhancement. Destruction of multiple bones was also observed. The patient was treated with a radical nephrectomy. The pathological examination of the tumor revealed that the tumor cells contained an eosinophilic cytoplasm in the renal interstitial tissue. Immunohistochemistry revealed that the tumor cells expressed P504S, cluster of differentiation 10, pan-cytokeratin, vimentin and TFE3. In conclusion, Xp11.2 translocation RCC is a rare type of kidney cancer. Diagnosing this disease prior to surgery is challenging, and providing a definite diagnosis requires histopathological and immunohistochemical examination, while genetic analysis may also be required. PMID:26998154

A case of metastatic Xp11.2 translocation renal cell carcinoma successfully managed by cytoreductive nephrectomy followed by axitinib therapy

PubMed Central

Nishimura, Koichi; Takagi, Toshio; Toda, Naohiro; Yamamoto, Tomoko; Kondo, Tsunenori; Ishida, Hideki; Nagashima, Yoji; Tanabe, Kazunari

2017-01-01

Targeted medications for metastatic adult Xp11.2 translocation renal cell carcinoma (RCC) remain to be identified. We herein report a case of metastatic Xp11.2 translocation RCC controlled with cytoreductive nephrectomy (CN) and axitinib therapy. A 57-year-old woman complained of fatigue and low back pain. Imaging studies revealed a right renal tumor, with multiple lung and mediastinal lymph node metastases. Although the patient received 10 mg axitinib therapy for 5 months at the hospital she was initially admitted to, the size of the primary and metastatic lesions was not reduced. Thus, she was referred to the Tokyo Women's Medical University Hospital (Tokyo, Japan) for further treatment, where she underwent CN. On macroscopic examination, almost the entire kidney was replaced by a yellowish brown tumor >80 mm in diameter. Immunohistochemical examination confirmed the diagnosis of Xp11.2 translocation RCC. One month after surgery, axitinib therapy was resumed and the size of the metastatic lesions gradually decreased. These findings suggest that axitinib therapy is effective for adult Xp11.2 translocation RCC. PMID:28451413

[A case of xp11.2 translocation renal cell carcinoma].

PubMed

Horie, Kengo; Kikuchi, Mina; Miwa, Kosei; Minamidate, Yuzuru; Yokoi, Shigeaki; Nakano, Masahiro; Deguchi, Takashi; Ehara, Hidetoshi; Asano, Nami; Hirose, Yoshinobu

2011-03-01

Xp11.2/TFE3 translocation renal cell carcinoma (RCC), a recently classified distinct subtype, is a rare tumor that usually affects children and adolescents. The morphology and biological behavior are not widely recognized, Xp11.2 translocation RCC is suggestive of early metastases despite the small tumor size. The definitive diagnosis requires the evidence of several different reciprocal translocations involving the TFE3 gene located on chromosome Xp11.2. Here, we present a case of Xp11.2 translocation RCC in an 18-yearold male. He was referred to our hospital because of a right renal tumor with macroscopic hematuria and right flank colic. The radiographic evaluation including magnetic resonance imaging (MRI) suggested it to be a typical papillary renal cell carcinoma or benign renal tumor. He underwent laparoscopic nephrectomy against the repeat symptom in spite of small tumor (3.5 cm in diameter). The immunohistochemical study revealed nuclear staining for TFE3 protein in the cancer cells. The urologic and radiologic outcomes were satisfactory after more than 1 year of follow-up.

Xp11.2 translocation renal cell carcinoma with multiple bone metastases: A case report.

PubMed

Liu, Jiaju; Su, Zhengming; Li, Yifan; Chen, Duqun; Ni, Liangchao; Mao, Xiangming; Yang, Shangqi; Lai, Yongqing

2016-03-01

Xp11.2 translocation/transcription factor enhancer 3 (TFE3) fusion gene associated with renal cell carcinoma (Xp11.2 translocation RCC) is rare and occurs predominantly in children and adolescents. The current study reports the case of a 14-year-old male with Xp11.2 translocation RCC, who presented with chest pain that had persisted for 1 month. A solid neoplasm was located in the left kidney of the patient. Contrast-enhanced computed tomography revealed the presence of a solid mass in the kidney, with uneven enhancement. Destruction of multiple bones was also observed. The patient was treated with a radical nephrectomy. The pathological examination of the tumor revealed that the tumor cells contained an eosinophilic cytoplasm in the renal interstitial tissue. Immunohistochemistry revealed that the tumor cells expressed P504S, cluster of differentiation 10, pan-cytokeratin, vimentin and TFE3. In conclusion, Xp11.2 translocation RCC is a rare type of kidney cancer. Diagnosing this disease prior to surgery is challenging, and providing a definite diagnosis requires histopathological and immunohistochemical examination, while genetic analysis may also be required.

Laparoscopic radiofrequency ablation-assisted enucleation of Xp11.2 translocation renal cell carcinoma: A case report

PubMed Central

XU, LINFENG; YANG, RONG; WANG, WEI; ZHANG, YIFEN; GAN, WEIDONG

2014-01-01

The current study presents a case of Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) in a 30-year-old female. The patient was referred to The Affiliated Drum Tower Hospital of the Medical College of Nanjing University (Nanjing, Jiangsu, China) due to a right renal tumor without evident symptoms, which was found by a routine physical examination. A computed tomography (CT) scan indicated that the mass exhibited cystic and solid components. The patient underwent laparoscopic radiofrequency ablation-assisted enucleation. Immunohistochemistry revealed intense nuclear staining for transcription factor E3 protein in the cancer cells. The patient was diagnosed with Xp11.2 RCC. The urological and radiological outcomes remained satisfactory after >2.5 years of follow-up. PMID:25120696

Laparoscopic radiofrequency ablation-assisted enucleation of Xp11.2 translocation renal cell carcinoma: A case report.

PubMed

Xu, Linfeng; Yang, Rong; Wang, Wei; Zhang, Yifen; Gan, Weidong

2014-09-01

The current study presents a case of Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) in a 30-year-old female. The patient was referred to The Affiliated Drum Tower Hospital of the Medical College of Nanjing University (Nanjing, Jiangsu, China) due to a right renal tumor without evident symptoms, which was found by a routine physical examination. A computed tomography (CT) scan indicated that the mass exhibited cystic and solid components. The patient underwent laparoscopic radiofrequency ablation-assisted enucleation. Immunohistochemistry revealed intense nuclear staining for transcription factor E3 protein in the cancer cells. The patient was diagnosed with Xp11.2 RCC. The urological and radiological outcomes remained satisfactory after >2.5 years of follow-up.

Reduced superoxide dismutase activity in xeroderma pigmentosum fibroblasts

DOE Office of Scientific and Technical Information (OSTI.GOV)

Nishigori, C.; Miyachi, Y.; Imamura, S.

1989-10-01

This study was performed in order to assess the possible protective effect of superoxide dismutase (SOD) on ultraviolet (UV) damage in xeroderma pigmentosum (XP) fibroblasts. SOD activity in fibroblasts originating from seven xeroderma pigmentosum (XP) patients was significantly lower than that in normal cells (p less than 0.005). Average SOD activity in XP cells belonging to complementation group A was 3.68 +/- 0.54 (n = 7) and that in normal human cells was 5.79 +/- 1.59 (n = 6). Addition of SOD before and during UV irradiation (UVB and UVC) to the cells caused no change in the amount ofmore » unscheduled DNA synthesis and UV survival. A possible involvement of reduced SOD in XP and a possible protective effect by SOD on UV damage is discussed.« less

MESAFace, a graphical interface to analyze the MESA output

NASA Astrophysics Data System (ADS)

Giannotti, M.; Wise, M.; Mohammed, A.

2013-04-01

MESA (Modules for Experiments in Stellar Astrophysics) has become very popular among astrophysicists as a powerful and reliable code to simulate stellar evolution. Analyzing the output data thoroughly may, however, present some challenges and be rather time-consuming. Here we describe MESAFace, a graphical and dynamical interface which provides an intuitive, efficient and quick way to analyze the MESA output. Catalogue identifier: AEOQ_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEOQ_v1_0.html Program obtainable from: CPC Program Library, Queen’s University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 19165 No. of bytes in distributed program, including test data, etc.: 6300592 Distribution format: tar.gz Programming language: Mathematica. Computer: Any computer capable of running Mathematica. Operating system: Any capable of running Mathematica. Tested on Linux, Mac, Windows XP, Windows 7. RAM: Recommended 2 Gigabytes or more. Supplementary material: Additional test data files are available. Classification: 1.7, 14. Nature of problem: Find a way to quickly and thoroughly analyze the output of a MESA run, including all the profiles, and have an efficient method to produce graphical representations of the data. Solution method: We created two scripts (to be run consecutively). The first one downloads all the data from a MESA run and organizes the profiles in order of age. All the files are saved as tables or arrays of tables which can then be accessed very quickly by Mathematica. The second script uses the Manipulate function to create a graphical interface which allows the user to choose what to plot from a set of menus and buttons. The information shown is updated in real time. The user can access very quickly all the data from the run under examination and visualize it with plots and tables. Unusual features: Moving the slides in certain regions may cause an error message. This happens when Mathematica is asked to read nonexistent data. The error message, however, disappears when the slides are moved back. This issue does not preclude the good functioning of the interface. Additional comments: The program uses the dynamical capabilities of Mathematica. When the program is opened, Mathematica prompts the user to “Enable Dynamics”. It is necessary to accept before proceeding. Running time: Depends on the size of the data downloaded, on where the data are stored (hard-drive or web), and on the speed of the computer or network connection. In general, downloading the data may take from a minute to several minutes. Loading directly from the web is slower. For example, downloading a 200 MB data folder (a total of 102 files) with a dual-core Intel laptop, P8700, 2 GB of RAM, at 2.53 GHz took about a minute from the hard-drive and about 23 min from the web (with a basic home wireless connection).

Abnormal, Error-Prone Bypass of Photoproducts by Xeroderma Pigmentosum Variant Cell Extracts Results in Extreme Strand Bias for the Kinds of Mutations Induced by UV Light

PubMed Central

McGregor, W. Glenn; Wei, Dong; Maher, Veronica M.; McCormick, J. Justin

1999-01-01

Xeroderma pigmentosum (XP) is a rare genetic disease characterized by a greatly increased susceptibility to sunlight-induced skin cancer. Cells from the majority of patients are defective in nucleotide excision repair. However, cells from one set of patients, XP variants, exhibit normal repair but are abnormally slow in replicating DNA containing UV photoproducts. The frequency of UV radiation-induced mutations in the XP variant cells is significantly higher than that in normal human cells. Furthermore, the kinds of UV-induced mutations differ very significantly from normal. Instead of transitions, mainly C→T, 30% of the base substitutions consist of C→A transversions, all arising from photoproducts located in one strand. Mutations involving cytosine in the other strand are almost all C→T transitions. Forty-five percent of the substitutions involve thymine, and the majority are transversions. To test the hypothesis that the UV hypermutability and the abnormal spectrum of mutations result from abnormal bypass of photoproducts in DNA, we compared extracts from XP variant cells with those from HeLa cells and a fibroblast cell strain, MSU-1.2, for the ability to replicate a UV-irradiated form I M13 phage. The M13 template contains a simian virus 40 origin of replication located directly to the left or to the right of the target gene, lacZα, so that the template for the leading and lagging strands of DNA replication is defined. Reduction of replication to ∼37% of the control value required only 1 photoproduct per template for XP variant cell extracts, but ∼2.2 photoproducts for HeLa or MSU-1.2 cell extracts. The frequency of mutants induced was four times higher with XP variant cell extracts than with HeLa or MSU-1.2 cell extracts. With XP variant cell extracts, the proportion of C→A transversions reached as high as 43% with either M13 template and arose from photoproducts located in the template for leading-strand synthesis; with HeLa or MSU-1.2 cell extracts, this value was only 5%, and these arose from photoproducts in either strand. With the XP variant extracts, 26% of the substitutions involved thymine, and virtually all were T→A transversions. Sequence analysis of the coding region of the catalytic subunit of DNA polymerase delta in XP variant cell lines revealed two polymorphisms, but these do not account for the reduced bypass fidelity. Our data indicate that the UV hypermutability of XP variant cells results from reduced bypass fidelity and that unlike for normal cells, bypass of photoproducts involving cytosine in the template for the leading strand differs significantly from that of photoproducts in the lagging strand. PMID:9858539

Multithreaded transactions in scientific computing. The Growth06_v2 program

NASA Astrophysics Data System (ADS)

Daniluk, Andrzej

2009-07-01

Writing a concurrent program can be more difficult than writing a sequential program. Programmer needs to think about synchronization, race conditions and shared variables. Transactions help reduce the inconvenience of using threads. A transaction is an abstraction, which allows programmers to group a sequence of actions on the program into a logical, higher-level computation unit. This paper presents a new version of the GROWTHGr and GROWTH06 programs. New version program summaryProgram title: GROWTH06_v2 Catalogue identifier: ADVL_v2_1 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADVL_v2_1.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 65 255 No. of bytes in distributed program, including test data, etc.: 865 985 Distribution format: tar.gz Programming language: Object Pascal Computer: Pentium-based PC Operating system: Windows 9x, XP, NT, Vista RAM: more than 1 MB Classification: 4.3, 7.2, 6.2, 8, 14 Catalogue identifier of previous version: ADVL_v2_0 Journal reference of previous version: Comput. Phys. Comm. 175 (2006) 678 Does the new version supersede the previous version?: Yes Nature of problem: The programs compute the RHEED intensities during the growth of thin epitaxial structures prepared using the molecular beam epitaxy (MBE). The computations are based on the use of kinematical diffraction theory. Solution method: Epitaxial growth of thin films is modelled by a set of non-linear differential equations [1]. The Runge-Kutta method with adaptive stepsize control was used for solving initial value problem for non-linear differential equations [2]. Reasons for new version: According to the users' suggestions functionality of the program has been improved. Moreover, new use cases have been added which make the handling of the program easier and more efficient than the previous ones [3]. Summary of revisions:The design pattern (See Fig. 2 of Ref. [3]) has been modified according to the scheme shown on Fig. 1. A graphical user interface (GUI) for the program has been reconstructed. Fig. 2 presents a hybrid diagram of a GUI that shows how onscreen objects connect to use cases. The program has been compiled with English/USA regional and language options. Note: The figures mentioned above are contained in the program distribution file. Unusual features: The program is distributed in the form of source project GROWTH06_v2.dpr with associated files, and should be compiled using Borland Delphi compilers versions 6 or latter (including Borland Developer Studio 2006 and Code Gear compilers for Delphi). Additional comments: Two figures are included in the program distribution file. These are captioned Static classes model for Transaction design pattern. A model of a window that shows how onscreen objects connect to use cases. Running time: The typical running time is machine and user-parameters dependent. References: [1] A. Daniluk, Comput. Phys. Comm. 170 (2005) 265. [2] W.H. Press, B.P. Flannery, S.A. Teukolsky, W.T. Vetterling, Numerical Recipes in Pascal: The Art of Scientific Computing, first ed., Cambridge University Press, 1989. [3] M. Brzuszek, A. Daniluk, Comput. Phys. Comm. 175 (2006) 678.

A rare cause of childhood renal cysts: Xp11.2 translocation renal cell carcinoma

PubMed Central

Taşkınlar, Hakan; Avlan, Dinçer; Çıtak, Çağlar; Polat, Ayşe; Naycı, Ali

2015-01-01

Pediatric renal cysts are rare, usually asymptomatic and incidentally detected in children. Cyst associated renal cell carcinoma (RCC) or cystic RCC is extremely rare in children. Bosniak classification system has been accepted for the management of cystic renal masses. Xp11.2 translocation RCC is a recently classified distinct subtype and usually affects children and adolescents. We report the case of a 10-year-old girl with Xp11.2 translocation RCC from a cyst of the right kidney. PMID:25624966

A rare cause of childhood renal cysts: Xp11.2 translocation renal cell carcinoma.

PubMed

Taşkınlar, Hakan; Avlan, Dinçer; Çıtak, Çağlar; Polat, Ayşe; Naycı, Ali

2015-01-01

Pediatric renal cysts are rare, usually asymptomatic and incidentally detected in children. Cyst associated renal cell carcinoma (RCC) or cystic RCC is extremely rare in children. Bosniak classification system has been accepted for the management of cystic renal masses. Xp11.2 translocation RCC is a recently classified distinct subtype and usually affects children and adolescents. We report the case of a 10-year-old girl with Xp11.2 translocation RCC from a cyst of the right kidney.

Loss of Nucleotide Excision Repair as a Source of Genomic Instability in Breast Cancer

DTIC Science & Technology

2005-06-01

prone syndrome xeroderma pigmentosum (XP), and reminiscent of p48 deficiency in XP-E cells, and we have in result in the developmental and...photoproduct; UV-DDB, UV-damaged DNA binding factor; wt, wild-type; well as damaged DNA itself, thus suggesting that it may act as XP, xeroderma pigmentosum . a...the potential for mutagenesis. If UV-DDB is a chromatin the classification of five cell strains of xeroderma pigmentosum group E remodeling factor

Design and implementation of a scene-dependent dynamically selfadaptable wavefront coding imaging system

NASA Astrophysics Data System (ADS)

Carles, Guillem; Ferran, Carme; Carnicer, Artur; Bosch, Salvador

2012-01-01

A computational imaging system based on wavefront coding is presented. Wavefront coding provides an extension of the depth-of-field at the expense of a slight reduction of image quality. This trade-off results from the amount of coding used. By using spatial light modulators, a flexible coding is achieved which permits it to be increased or decreased as needed. In this paper a computational method is proposed for evaluating the output of a wavefront coding imaging system equipped with a spatial light modulator, with the aim of thus making it possible to implement the most suitable coding strength for a given scene. This is achieved in an unsupervised manner, thus the whole system acts as a dynamically selfadaptable imaging system. The program presented here controls the spatial light modulator and the camera, and also processes the images in a synchronised way in order to implement the dynamic system in real time. A prototype of the system was implemented in the laboratory and illustrative examples of the performance are reported in this paper. Program summaryProgram title: DynWFC (Dynamic WaveFront Coding) Catalogue identifier: AEKC_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEKC_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 10 483 No. of bytes in distributed program, including test data, etc.: 2 437 713 Distribution format: tar.gz Programming language: Labview 8.5 and NI Vision and MinGW C Compiler Computer: Tested on PC Intel ® Pentium ® Operating system: Tested on Windows XP Classification: 18 Nature of problem: The program implements an enhanced wavefront coding imaging system able to adapt the degree of coding to the requirements of a specific scene. The program controls the acquisition by a camera, the display of a spatial light modulator and the image processing operations synchronously. The spatial light modulator is used to implement the phase mask with flexibility given the trade-off between depth-of-field extension and image quality achieved. The action of the program is to evaluate the depth-of-field requirements of the specific scene and subsequently control the coding established by the spatial light modulator, in real time.

Manufacturing Methods and Technology (MMT) Program for FY 80, Large Caliber Weapons System Laboratory, ARRADCOM

DTIC Science & Technology

1980-09-01

ABIA .S-POUcOT «♦165 PROTOTYFEFACILITYFORRECOVERYGFHMXFRROX/HNXAONIX HRICCI »II ESPO 216C ESPO *7-0EC4* 19AUG70 2.151 1.422...TOTAL -^ .670 TCCH ABiA - IS-«PROP»äXP- »18 9 HIGHFKA GST EELPRODUCTION PROCESS WStMftf* 37»2 HSO FY79 .»CO .60» 0.000 0.000

ESDAPT - APT PROGRAMMING EDITOR AND INTERPRETER

NASA Technical Reports Server (NTRS)

Premack, T.

1994-01-01

ESDAPT is a graphical programming environment for developing APT (Automatically Programmed Tool) programs for controlling numerically controlled machine tools. ESDAPT has a graphical user interface that provides the user with an APT syntax sensitive text editor and windows for displaying geometry and tool paths. APT geometry statement can also be created using menus and screen picks. ESDAPT interprets APT geometry statements and displays the results in its view windows. Tool paths are generated by batching the APT source to an APT processor (COSMIC P-APT recommended). The tool paths are then displayed in the view windows. Hardcopy output of the view windows is in color PostScript format. ESDAPT is written in C-language, yacc, lex, and XView for use on Sun4 series computers running SunOS. ESDAPT requires 4Mb of disk space, 7Mb of RAM, and MIT's X Window System, Version 11 Release 4, or OpenWindows version 3 for execution. Program documentation in PostScript format and an executable for OpenWindows version 3 are provided on the distribution media. The standard distribution medium for ESDAPT is a .25 inch streaming magnetic tape cartridge (Sun QIC-24) in UNIX tar format. This program was developed in 1992.

Short stature in a mother and daughter with terminal deletion of Xp22.3

DOE Office of Scientific and Technical Information (OSTI.GOV)

Schwinger, E.; Kirschstein, M.; Konermann, T.

1996-05-03

Short stature in females is often caused by homozygosity for the terminal portion of Xp due to monosomy X or a deletion. We report on a mother and daughter with short stature as sole phenotypic abnormality and deletion of bands Xp22.32-p22.33 demonstrated by classic and molecular cytogenetic analysis. In both individuals, the deleted X chromosome was late replicating. Molecular analysis suggested that the deletion is terminal and the breakpoint was localized between the STS and DXS7470 loci in Xp22.32. Chromosome analysis is often done on females with short stature to exclude Ullrich-Turner syndrome. Small deletions, terminal or interstitial, are easilymore » missed by conventional cytogenetic investigation; thus molecular analyses are useful to detect those cases. 8 refs., 3 figs.« less

XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.

PubMed

Ijaz, Ambreen; Basit, Sulman; Gul, Ajab; Batool, Lilas; Hussain, Abrar; Afzal, Sibtain; Ramzan, Khushnooda; Ahmad, Jamil; Wali, Abdul

2018-03-23

Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity, and increased risk of skin carcinoma. We investigated seven consanguineous XP families with nine patients from Pakistan. All the Patients exhibited typical clinical symptoms of XP since first year of life. Whole genome SNP genotyping identified a 14 Mb autozygous region segregating with the disease phenotype on chromosome 3p25.1. DNA sequencing of XPC gene revealed a founder homozygous splice site mutation (c.2251-1G>C) in patients from six families (A-F) and a homozygous nonsense mutation (c.1399C>T; p.Gln467*) in patients of family G. This is the first report of XPC mutations, underlying XP phenotype, in Pakistani population. © 2018 Japanese Teratology Society.

Clinicopathological characteristics of Xp11.2 translocation renal cell carcinoma in adolescents and adults: Diagnosis using immunostaining of transcription factor E3 and fluorescence in situ hybridization analysis.

PubMed

Hirobe, Megumi; Masumori, Naoya; Tanaka, Toshiaki; Kitamura, Hiroshi; Tonooka, Akiko; Hasegawa, Tadashi; Tsukamoto, Taiji

2016-02-01

To determine the rate and clinicopathological features of Xp11.2 translocation carcinoma using immunostaining of transcription factor E3 and fluorescence in situ hybridization analysis. We evaluated 638 patients with renal cell carcinoma treated at Sapporo Medical University Hospital, Sapporo, Japan, from 1990 to 2009 by reviewing all hematoxylin-eosin-stained sections and carrying out immunostaining of transcription factor E3 for all cases. Fluorescence in situ hybridization analysis was carried out for patients with positive immunostaining or with findings suspicious for Xp11.2 translocation carcinoma on hematoxylin-eosin-stained sections. In this analysis, we set a cut-off level for split signals of at least 10% of nuclei. Of the 631 patients, 20 (3.2%) were positive for immunostaining. Finally, five patients were diagnosed with Xp11.2 translocation carcinoma (0.8%). Four of these patients were female and aged less than 50 years, and three cases were diagnosed as stage IV with multiple regional lymph nodal or visceral metastases. The positive predictive value of immunostaining was 25%. Patients with Xp11 translocation renal cell carcinoma tend to be younger, more frequently female and diagnosed at a more advanced stage. Immunostaining followed by fluorescence in situ hybridization analysis is an accurate and cost-effective approach for diagnosis of Xp11 translocation renal cell carcinoma. © 2015 The Japanese Urological Association.

[Application of polyclonal break-apart probes in the diagnosis of Xp11.2 translocation renal cell carcinoma].

PubMed

Chen, Xiancheng; Gan, Weidong; Ye, Qing; Yang, Jun; Guo, Hongqian; Li, Dongmei

2014-12-16

To explore the value of self-designed fluorescent in situ hybridization (FISH) polyclonal break-apart probes specific for TFE3 gene in the diagnosis of Xp11.2 translocation renal cell carcinoma. All tissue samples were collected from 2006 to 2013, including Xp11.2 translocation renal cell carcinoma (n = 10), renal clear cell carcinoma (n = 10) and renal papillary cell carcinoma (n = 10). FISH was conducted for paraffin-embedded tumor tissue sections with probes. The types of fluorescence were observed by fluorescent microscopy to determine the existence or non-existence of translocated TFE3 gene. All sections were successfully probed. The split red and green signals within a single nucleus were detected simultaneously in 9 cases of Xp11.2 translocation renal cell carcinoma as diagnosed by traditional pathological and immunohistochemical methods. And it was consistent with the initial diagnosis. Detection of fusion signal in 1/10 and negative FISH result did not conform to the initial diagnosis. The fluorescent types of renal clear cell carcinoma and renal papillary cell carcinoma were all fusion signals. FISH tests were negative for renal clear and papillary cell carcinomas. Xp11.2 translocation renal cell carcinomas diagnosed by traditional pathological and immunohistochemical methods are sometimes misdiagnosed. Detecting the translocation of TFE3 gene with FISH polyclonal break-apart probes is both accurate and reliable for diagnosing Xp11.2 translocation renal cell carcinoma.

Beam-plasma dielectric tensor with Mathematica

NASA Astrophysics Data System (ADS)

Bret, A.

2007-03-01

We present a Mathematica notebook allowing for the symbolic calculation of the 3×3 dielectric tensor of an electron-beam plasma system in the fluid approximation. Calculation is detailed for a cold relativistic electron beam entering a cold magnetized plasma, and for arbitrarily oriented wave vectors. We show how one can elaborate on this example to account for temperatures, arbitrarily oriented magnetic field or a different kind of plasma. Program summaryTitle of program: Tensor Catalog identifier: ADYT_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADYT_v1_0 Program obtainable from: CPC Program Library, Queen's University of Belfast, N. Ireland Computer for which the program is designed and others on which it has been tested: Computers: Any computer running Mathematica 4.1. Tested on DELL Dimension 5100 and IBM ThinkPad T42. Installations: ETSI Industriales, Universidad Castilla la Mancha, Ciudad Real, Spain Operating system under which the program has been tested: Windows XP Pro Programming language used: Mathematica 4.1 Memory required to execute with typical data: 7.17 Mbytes No. of bytes in distributed program, including test data, etc.: 33 439 No. of lines in distributed program, including test data, etc.: 3169 Distribution format: tar.gz Nature of the physical problem: The dielectric tensor of a relativistic beam plasma system may be quite involved to calculate symbolically when considering a magnetized plasma, kinetic pressure, collisions between species, and so on. The present Mathematica notebook performs the symbolic computation in terms of some usual dimensionless variables. Method of solution: The linearized relativistic fluid equations are directly entered and solved by Mathematica to express the first-order expression of the current. This expression is then introduced into a combination of Faraday and Ampère-Maxwell's equations to give the dielectric tensor. Some additional manipulations are needed to express the result in terms of the dimensionless variables. Restrictions on the complexity of the problem: Temperature effects are limited to small, i.e. non-relativistic, temperatures. The kinetic counterpart of the present Mathematica will usually not compute the required integrals. Typical running time: About 1 minute on a Intel Centrino 1.5 GHz Laptop with 512 MB of RAM. Unusual features of the program: None.

MEMS phase former kit for high-resolution wavefront control

NASA Astrophysics Data System (ADS)

Gehner, Andreas; Wildenhain, Michael; Neumann, Hannes; Elgner, Andreas; Schenk, Harald

2005-08-01

The MEMS Phase Former Kit developed by the Fraunhofer IPMS is a complete Spatial Light Modulator system based on a piston-type Micro Mirror Array (MMA) for the use in high-resolution, high-speed optical phase control. It has been designed for an easy system integration into an user-specific environment to offer a platform for first practical investigations to open up new applications in Adaptive Optics. The key component is a fine segmented 240 x 200 array of 40 μm piston-type mirror elements capable of 400 nm analog deflection for a 2pi phase modulation in the visible. Each mirror can be addressed and deflected independently by means of an integrated CMOS backplane address circuitry at an 8bit height resolution. Full user programmability and control is provided by a newly developed comfortable driver software for Windows XP based PCs supporting both a Graphical User Interface (GUI) for stand-alone operation with pre-defined data patterns as well as an open ActiveX programming interface for a closed-loop operation with real-time data from an external source. An IEEE1394a FireWire interface is used for high-speed data communication with an electronic driving board performing the actual MMA programming and control allowing for an overall frame rate of up to 500 Hz. Successful proof-of-concept demonstrations already have been given for eye aberration correction in ophthalmology, for error compensation of leightweight primary mirrors of future space telescopes and for ultra-short laser pulse shaping. Besides a presentation of the basic device concept and system architecture the paper will give an overview of the obtained results from these applications.

Windows Program For Driving The TDU-850 Printer

NASA Technical Reports Server (NTRS)

Parrish, Brett T.

1995-01-01

Program provides WYSIWYG compatibility between video display and printout. PDW is Microsoft Windows printer-driver computer program for use with Raytheon TDU-850 printer. Provides previously unavailable linkage between printer and IBM PC-compatible computers running Microsoft Windows. Enhances capabilities of Raytheon TDU-850 hardcopier by emulating all textual and graphical features normally supported by laser/ink-jet printers and makes printer compatible with any Microsoft Windows application. Also provides capabilities not found in laser/ink-jet printer drivers by providing certain Windows applications with ability to render high quality, true gray-scale photographic hardcopy on TDU-850. Written in C language.

Seismic Canvas: Evolution as a Data Exploration and Analysis Tool

NASA Astrophysics Data System (ADS)

Kroeger, G. C.

2015-12-01

SeismicCanvas, originally developed as a prototype interactive waveform display and printing application for educational use has evolved to include significant data exploration and analysis functionality. The most recent version supports data import from a variety of standard file formats including SAC and mini-SEED, as well as search and download capabilities via IRIS/FDSN Web Services. Data processing tools now include removal of means and trends, interactive windowing, filtering, smoothing, tapering, resampling. Waveforms can be displayed in a free-form canvas or as a record section based on angular or great circle distance, azimuth or back azimuth. Integrated tau-p code allows the calculation and display of theoretical phase arrivals from a variety of radial Earth models. Waveforms can be aligned by absolute time, event time, picked or theoretical arrival times and can be stacked after alignment. Interactive measurements include means, amplitudes, time delays, ray parameters and apparent velocities. Interactive picking of an arbitrary list of seismic phases is supported. Bode plots of amplitude and phase spectra and spectrograms can be created from multiple seismograms or selected windows of seismograms. Direct printing is implemented on all supported platforms along with output of high-resolution pdf files. With these added capabilities, the application is now being used as a data exploration tool for research. Coded in C++ and using the cross-platform Qt framework, the most recent version is available as a 64-bit application for Windows 7-10, Mac OS X 10.6-10.11, and most distributions of Linux, and a 32-bit version for Windows XP and 7. With the latest improvements and refactoring of trace display classes, the 64-bit versions have been tested with over 250 million samples and remain responsive in interactive operations. The source code is available under a LPGLv3 license and both source and executables are available through the IRIS SeisCode repository.

A Binaural CI Research Platform for Oticon Medical SP/XP Implants Enabling ITD/ILD and Variable Rate Processing

PubMed Central

Adiloğlu, K.; Herzke, T.

2015-01-01

We present the first portable, binaural, real-time research platform compatible with Oticon Medical SP and XP generation cochlear implants. The platform consists of (a) a pair of behind-the-ear devices, each containing front and rear calibrated microphones, (b) a four-channel USB analog-to-digital converter, (c) real-time PC-based sound processing software called the Master Hearing Aid, and (d) USB-connected hardware and output coils capable of driving two implants simultaneously. The platform is capable of processing signals from the four microphones simultaneously and producing synchronized binaural cochlear implant outputs that drive two (bilaterally implanted) SP or XP implants. Both audio signal preprocessing algorithms (such as binaural beamforming) and novel binaural stimulation strategies (within the implant limitations) can be programmed by researchers. When the whole research platform is combined with Oticon Medical SP implants, interaural electrode timing can be controlled on individual electrodes to within ±1 µs and interaural electrode energy differences can be controlled to within ±2%. Hence, this new platform is particularly well suited to performing experiments related to interaural time differences in combination with interaural level differences in real-time. The platform also supports instantaneously variable stimulation rates and thereby enables investigations such as the effect of changing the stimulation rate on pitch perception. Because the processing can be changed on the fly, researchers can use this platform to study perceptual changes resulting from different processing strategies acutely. PMID:26721923

A Binaural CI Research Platform for Oticon Medical SP/XP Implants Enabling ITD/ILD and Variable Rate Processing.

PubMed

Backus, B; Adiloğlu, K; Herzke, T

2015-12-30

We present the first portable, binaural, real-time research platform compatible with Oticon Medical SP and XP generation cochlear implants. The platform consists of (a) a pair of behind-the-ear devices, each containing front and rear calibrated microphones, (b) a four-channel USB analog-to-digital converter, (c) real-time PC-based sound processing software called the Master Hearing Aid, and (d) USB-connected hardware and output coils capable of driving two implants simultaneously. The platform is capable of processing signals from the four microphones simultaneously and producing synchronized binaural cochlear implant outputs that drive two (bilaterally implanted) SP or XP implants. Both audio signal preprocessing algorithms (such as binaural beamforming) and novel binaural stimulation strategies (within the implant limitations) can be programmed by researchers. When the whole research platform is combined with Oticon Medical SP implants, interaural electrode timing can be controlled on individual electrodes to within ±1 µs and interaural electrode energy differences can be controlled to within ±2%. Hence, this new platform is particularly well suited to performing experiments related to interaural time differences in combination with interaural level differences in real-time. The platform also supports instantaneously variable stimulation rates and thereby enables investigations such as the effect of changing the stimulation rate on pitch perception. Because the processing can be changed on the fly, researchers can use this platform to study perceptual changes resulting from different processing strategies acutely. © The Author(s) 2015.

Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

PubMed Central

Kashiyama, Kazuya; Nakazawa, Yuka; Pilz, Daniela T.; Guo, Chaowan; Shimada, Mayuko; Sasaki, Kensaku; Fawcett, Heather; Wing, Jonathan F.; Lewin, Susan O.; Carr, Lucinda; Li, Tao-Sheng; Yoshiura, Koh-ichiro; Utani, Atsushi; Hirano, Akiyoshi; Yamashita, Shunichi; Greenblatt, Danielle; Nardo, Tiziana; Stefanini, Miria; McGibbon, David; Sarkany, Robert; Fassihi, Hiva; Takahashi, Yoshito; Nagayama, Yuji; Mitsutake, Norisato; Lehmann, Alan R.; Ogi, Tomoo

2013-01-01

Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of photodamage from actively transcribed genes. To date, all identified causative mutations for CS have been in the two known CS-associated genes, ERCC8 (CSA) and ERCC6 (CSB). For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG). In a previous report, we identified several CS cases who did not have mutations in any of these genes. In this paper, we describe three CS individuals deficient in ERCC1 or ERCC4 (XPF). Remarkably, one of these individuals with XP complementation group F (XP-F) had clinical features of three different DNA-repair disorders—CS, XP, and Fanconi anemia (FA). Our results, together with those from Bogliolo et al., who describe XPF alterations resulting in FA alone, indicate a multifunctional role for XPF. PMID:23623389

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

PubMed

Kashiyama, Kazuya; Nakazawa, Yuka; Pilz, Daniela T; Guo, Chaowan; Shimada, Mayuko; Sasaki, Kensaku; Fawcett, Heather; Wing, Jonathan F; Lewin, Susan O; Carr, Lucinda; Li, Tao-Sheng; Yoshiura, Koh-ichiro; Utani, Atsushi; Hirano, Akiyoshi; Yamashita, Shunichi; Greenblatt, Danielle; Nardo, Tiziana; Stefanini, Miria; McGibbon, David; Sarkany, Robert; Fassihi, Hiva; Takahashi, Yoshito; Nagayama, Yuji; Mitsutake, Norisato; Lehmann, Alan R; Ogi, Tomoo

2013-05-02

Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of photodamage from actively transcribed genes. To date, all identified causative mutations for CS have been in the two known CS-associated genes, ERCC8 (CSA) and ERCC6 (CSB). For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG). In a previous report, we identified several CS cases who did not have mutations in any of these genes. In this paper, we describe three CS individuals deficient in ERCC1 or ERCC4 (XPF). Remarkably, one of these individuals with XP complementation group F (XP-F) had clinical features of three different DNA-repair disorders--CS, XP, and Fanconi anemia (FA). Our results, together with those from Bogliolo et al., who describe XPF alterations resulting in FA alone, indicate a multifunctional role for XPF. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Sex determining gene on the X chromosome short arm: dosage sensitive sex reversal.

PubMed

Ogata, T; Matsuo, N

1996-08-01

The present review article summarizes current knowledge concerning the sex determining gene on Xp21, termed DSS (dosage sensitive sex reversal). The presence of DSS has been based on the finding that, in the presence of SRY, partial active Xp duplications encompassing the middle part of Xp result in sex reversal, whereas those of the distal or proximal part of Xp permit male sex development. Because Klinefelter patients develop as males, it is believed that DSS is normally subject to X-inactivation, and that two active copies of DSS override the function of SRY, resulting in gonadal dysgenesis because of meiotic pairing failure. It may be possible that DSS encodes a target sequence for repressing function of SRY or that DSS is involved in an X chromosome-counting mechanism. Molecular approaches have localized DSS to a 160 kb region and isolated candidate genes such as DAX-1 and MAGE-Xp, but there has been no formal evidence equating the candidate gene with DSS. In addition to its clinical importance, the exploration of DSS must provide a useful clue to phylogenetic studies of sex chromosomes and dosage compensation.

tweezercalib 2.1: Faster version of MatLab package for precise calibration of optical tweezers

NASA Astrophysics Data System (ADS)

Hansen, Poul Martin; Tolic-Nørrelykke, Iva Marija; Flyvbjerg, Henrik; Berg-Sørensen, Kirstine

2006-10-01

New version program summaryTitle of program: tweezercalib Catalogue identifier:ADTV_v2_1 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADTV_v2_1 Program obtainable from: CPC Program Library, Queen's University of Belfast, N. Ireland Licensing provisions:no No. of lines in distributed program, including test data, etc.: 134 188 No. of bytes in distributed program, including test data, etc.: 1 050 368 Distribution format: tar.gz Programming language: MatLab (Mathworks Inc.), standard license Computer:General computer running MatLab (Mathworks Inc.) Operating system:Windows2000, Windows-XP, Linux RAM:Of order four times the size of the data file Classification:3, 4.14, 18, 23 Catalogue identifier of previous version: ADTV_v2_0 Journal reference of previous version: Comput. Phys. Comm. 174 (2006) 518 Does the new version supersede the previous version?: yes Nature of problem:Calibrate optical tweezers with precision by fitting theory to experimental power spectrum of position of bead doing Brownian motion in incompressible fluid, possibly near microscope cover slip, while trapped in optical tweezers. Thereby determine spring constant of optical trap and conversion factor for arbitrary-units-to-nanometers for detection system. The theoretical underpinnings of the procedure may be found in Ref. [3]. Solution method:Elimination of cross-talk between quadrant photo-diodes, output channels for positions (optional). Check that distribution of recorded positions agrees with Boltzmann distribution of bead in harmonic trap. Data compression and noise reduction by blocking method applied to power spectrum. Full accounting for hydrodynamic effects; Frequency-dependent drag force and interaction with nearby cover slip (optional). Full accounting for electronic filters (optional), for "virtual filtering" caused by detection system (optional). Full accounting for aliasing caused by finite sampling rate (optional). Standard non-linear least-squares fitting with custom written routines based on Refs. [1,2]. Statistical support for fit is given, with several plots facilitating inspection of consistency and quality of data and fit. Reasons for the new version:Recent progress in the field has demonstrated a better approximation of the formula for the theoretical power spectrum with corrections due to frequency dependence of motion and distance to a surface nearby. Summary of revisions:The expression for the theoretical power spectrum when accounting for corrections to Stokes law, P(f), has been updated to agree with a better approximation of the theoretical spectrum, as discussed in Ref. [4] The units of the kinematic viscosity applied in the program is now stated in the input window. Greek letters and exponents are inserted in the input window. The graphical output has improved: The figures now bear a meaningful title and four figures that test the quality of the fit are now combined in one figure with four parts. Restrictions: Data should be positions of bead doing Brownian motion while held by optical tweezers. For high precision in final results, data should be time series measured over a long time, with sufficiently high experimental sampling rate; The sampling rate should be well above the characteristic frequency of the trap, the so-called corner frequency. Thus, the sampling frequency should typically be larger than 10 kHz. The Fast Fourier Transform used works optimally when the time series contain 2 data points, and long measurement time is obtained with n>12-15. Finally, the optics should be set to ensure a harmonic trapping potential in the range of positions visited by the bead. The fitting procedure checks for harmonic potential. Running time:seconds ReferencesJ. Nocedal, Y.x. Yuan, Combining trust region and line search techniques, Technical Report OTC 98/04, Optimization Technology Center, 1998. W.H. Press, B.P. Flannery, S.A. Teukolsky, W.T. Vetterling, Numerical Recipes. The Art of Scientific Computing, Cambridge University Press, Cambridge, 1986. (The theoretical underpinnings for the procedure) K. Berg-Sørensen and Henrik Flyvbjerg, Power spectrum analysis for optical tweezers, Rev. Sci. Ins. 75 (2004) 594-612. S.F. Tolic-Nørrelykke, et al., Calibration of optical tweezers with positions detection in the back-focal-plane, arXiv:physics/0603037 v2, 2006.

Atypical Fibroxanthoma in a 13-Year-Old Guatemalan Girl with Xeroderma Pigmentosum.

PubMed

Chappell, Ava G; Chase, Elizabeth P; Chang, Beverly; Cunningham, Eric; Mihm, Fred; Calame, Antoanella; Fudem, Gary; Cunningham, Bari

2016-05-01

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease involving a defect in DNA repair leading to the premature development of numerous aggressive cutaneous malignancies. Although atypical fibroxanthoma (AFX) is a neoplasm typically found in the setting of extensive sun exposure or therapeutic radiation, AFXs are rarely associated with children with XP. We report the case of a 13-year-old Guatemalan girl with the XP type C variant who developed one of the largest AFXs reported on a child's finger. © 2016 Wiley Periodicals, Inc.

A recombination outside the BB deletion refines the location of the X-linked retinitis pigmentosa locus RP3

DOE Office of Scientific and Technical Information (OSTI.GOV)

Fujita, R.; Bingham, E.; Forsythe, P.

1996-07-01

Genetic loci for X-linked retinitis pigmentosa (XLRP) have been mapped between Xp11.22 and Xp22.13 (RP2, RP3, RP6, and RP15). The RP3 gene, which is responsible for the predominant form of XLRP in most Caucasian populations, has been localized to Xp21.1 by linkage analysis and the map positions of chromosomal deletions associated with the disease. Previous linkage studies have suggested that RP3 is flanked by the markers DXS1110 (distal) and OTC (proximal). Patient BB was though to have RP because of a lesion at the RP3 locus, in addition to chronic granulomatous disease, Duchenne muscular dystrophy (DMD), mild mental retardation, andmore » the McLeod phenotype. This patient carried a deletion extending {approximately}3 Mb from DMD in Xp21.3 to Xp21.1, with the proximal breakpoint located {approximately}40 kb centromeric to DXS1110. The RP3 gene, therefore, is believed to reside between DXS1110 and the proximal breakpoint of the BB deletion. In order to refine the location of RP3 and to ascertain patients with RP3, we have been analyzing several XLRP families for linkage to Xp markers. Linkage analysis in an American family of 27 individuals demonstrates segregation of XLRP with markers in Xp21.1, consistent with the RP3 subtype. One affected male shows a recombination event proximal to DXS1110. Additional markers within the DXS1110-OTC interval show that the crossover is between two novel polymorphic markers, DXS8349 and M6, both of which are present in BB DNA and lie centromeric to the proximal breakpoint. This recombination places the XLRP mutation in this family outside the BB deletion and redefines the location of RP3. 22 refs., 3 figs., 2 tabs.« less

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: Implication for the MRX locus

DOE Office of Scientific and Technical Information (OSTI.GOV)

Muroya, Koji; Ogata, Tsutomu; Natsuo, Nobutake

Although genotype-phenotype correlations in male patients with various types of nullisomy for Xp22.3 have assigned a locus for X-linked mental retardation (MRX) to an approximately 3-Mb region between DXS31 and STS, the precise location has not been determined. In this paper, we describe a 14 7/12 year old Japanese boy with mental retardation and an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1, and compare the deletion map with that of previously reported three familial male patients with low-normal intelligence and a similar interstitial deletion at Xp22.3. The results suggest that the MRX gene is further localized to themore » roughly 1.5-Mb region between DXS1060 and DXS1139. 31 refs., 4 figs.« less

Computed tomography and magnetic resonance imaging of adult renal cell carcinoma associated with Xp11.2 translocation.

PubMed

Dang, Trien T; Ziv, Etay; Weinstein, Stefanie; Meng, Maxwell V; Wang, Zhen; Coakley, Fergus V

2012-01-01

This study aimed to report the computed tomography (CT) and magnetic resonance imaging (MRI) findings of renal cell carcinoma associated with Xp11.2 translocation in adults. We retrospectively identified 9 adults with renal cell carcinoma associated with Xp11.2 translocation who underwent baseline cross-sectional imaging with CT (n = 9) or MRI (n = 3). All available clinical, imaging, and histopathological records were reviewed. Mean patient age was 24 years (range, 18-45 years). Eight of 9 cancers demonstrated imaging findings of hemorrhage or necrosis (n = 3), advanced stage disease (n = 2), or both (n = 3) at CT or MRI. The possibility of renal cell carcinoma associated with Xp11.2 translocation should be considered for a renal mass seen in a patient 45 years or younger, which demonstrates hemorrhage or necrosis or advanced stage disease at CT or MRI.

Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population

PubMed Central

Santiago, Karina Miranda; França de Nóbrega, Amanda; Rocha, Rafael Malagoli; Rogatto, Silvia Regina; Achatz, Maria Isabel

2015-01-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different populations. No Brazilian patients have been reported to carry a germline mutation in this gene. In this study, the germline mutational status of XPA was determined in Brazilian patients exhibiting major clinical features of XP syndrome. The study was conducted on 27 unrelated patients from select Brazilian families. A biallelic inactivating transition mutation c.619C>T (p.Arg207Ter) was identified in only one patient with a history of neurological impairment and mild skin abnormalities. These findings suggest that XP syndrome is rarely associated with inherited disease-causing XPA mutations in the Brazilian population. Additionally, this report demonstrates the effectiveness of genotype-phenotype correlation as a valuable tool to guide direct genetic screening. PMID:25913378

In vitro Repair of Oxidative DNA Damage by Human Nucleotide Excision Repair System: Possible Explanation for Neurodegeneration in Xeroderma Pigmentosum Patients

NASA Astrophysics Data System (ADS)

Reardon, Joyce T.; Bessho, Tadayoshi; Kung, Hsiang Chuan; Bolton, Philip H.; Sancar, Aziz

1997-08-01

Xeroderma pigmentosum (XP) patients fail to remove pyrimidine dimers caused by sunlight and, as a consequence, develop multiple cancers in areas exposed to light. The second most common sign, present in 20-30% of XP patients, is a set of neurological abnormalities caused by neuronal death in the central and peripheral nervous systems. Neural tissue is shielded from sunlight-induced DNA damage, so the cause of neurodegeneration in XP patients remains unexplained. In this study, we show that two major oxidative DNA lesions, 8-oxoguanine and thymine glycol, are excised from DNA in vitro by the same enzyme system responsible for removing pyrimidine dimers and other bulky DNA adducts. Our results suggest that XP neurological disease may be caused by defective repair of lesions that are produced in nerve cells by reactive oxygen species generated as by-products of an active oxidative metabolism.

Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population.

PubMed

Santiago, Karina Miranda; França de Nóbrega, Amanda; Rocha, Rafael Malagoli; Rogatto, Silvia Regina; Achatz, Maria Isabel

2015-04-22

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different populations. No Brazilian patients have been reported to carry a germline mutation in this gene. In this study, the germline mutational status of XPA was determined in Brazilian patients exhibiting major clinical features of XP syndrome. The study was conducted on 27 unrelated patients from select Brazilian families. A biallelic inactivating transition mutation c.619C>T (p.Arg207Ter) was identified in only one patient with a history of neurological impairment and mild skin abnormalities. These findings suggest that XP syndrome is rarely associated with inherited disease-causing XPA mutations in the Brazilian population. Additionally, this report demonstrates the effectiveness of genotype-phenotype correlation as a valuable tool to guide direct genetic screening.

Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding protein

DOE Office of Scientific and Technical Information (OSTI.GOV)

Keeney, S.; Brody, T.; Linn, S.

1994-04-26

Cells from a subset of patients with the DNA-repair-defective disease xeroderma pigmentosum complementation group E (XP-E) are known to lack a DNA damage-binding (DDB) activity. Purified human DDB protein was injected into XP-E cells to test whether the DNA-repair defect in these cells is caused by a defect in DDB activity. Injected DDB protein stimulated DNA repair to normal levels in those strains that lack the DDB activity but did not stimulate repair in cells from other xeroderma pigmentosum groups or in XP-E cells that contain the activity. These results provide direct evidence that defective DDB activity causes the repairmore » defect in a subset of XP-E patients, which in turn establishes a role for this activity in nucleotide-excision repair in vivo.« less

Performance evaluation of the Sysmex(®) XP-300 in an oncology setting: evaluation and comparison of hematological parameters with the Sysmex(®) XN-3000.

PubMed

van Dievoet, M A; Louagie, H; Ghys, T

2016-10-01

The Sysmex XP-300(®) (XP-300) is a new, fully automated hematology analyzer, designed to generate complete blood counts (CBC) with 3-part differential. In our study, the XP-300 was evaluated as a point-of-care (POC) analyzer in an oncology setting. In which blood samples from patients with different pathologies and treatments, affecting hematopoiesis, were analyzed. Performance was evaluated according to the International Council for Standardization in Haematology (ICSH) guidelines and CLSI protocol H20-A2 . Beside precision, linearity and carry-over, a comparison study with the Sysmex(®) XN-3000 (XN-3000) and a manual reference leukocyte differential was performed. Flagging performance was also evaluated. XP-300 showed excellent precision and linearity results. For within- and between-run precision, the criteria, according to Ricos et al. , were met for all parameters tested, except for platelets in the low level. Less than or equal to 0.5% carry-over was seen for all parameters tested. Comparison studies showed an acceptable correlation with both XN-3000 and the manual reference leukocyte count. A suboptimal flagging performance was demonstrated. In the context of diagnosing cytopenia due to myelosuppressing agents or leukocytosis due to infection, the XP-300 showed good analytical performance. However, in the thrombocytopenic range, precision was suboptimal. In follow-up of hematological malignancies with the occurrence of abnormal cells, we advise verification with a more advanced analyzer or with microscopic review, although further studies with a higher prevalence of abnormal cells are needed. © 2016 John Wiley & Sons Ltd.

An altered redox balance and increased genetic instability characterize primary fibroblasts derived from xeroderma pigmentosum group A patients.

PubMed

Parlanti, Eleonora; Pietraforte, Donatella; Iorio, Egidio; Visentin, Sergio; De Nuccio, Chiara; Zijno, Andrea; D'Errico, Mariarosaria; Simonelli, Valeria; Sanchez, Massimo; Fattibene, Paola; Falchi, Mario; Dogliotti, Eugenia

2015-12-01

Xeroderma pigmentosum (XP)-A patients are characterized by increased solar skin carcinogenesis and present also neurodegeneration. XPA deficiency is associated with defective nucleotide excision repair (NER) and increased basal levels of oxidatively induced DNA damage. In this study we search for the origin of increased levels of oxidatively generated DNA lesions in XP-A cell genome and then address the question of whether increased oxidative stress might drive genetic instability. We show that XP-A human primary fibroblasts present increased levels and different types of intracellular reactive oxygen species (ROS) as compared to normal fibroblasts, with O₂₋• and H₂O₂ being the major reactive species. Moreover, XP-A cells are characterized by decreased reduced glutathione (GSH)/oxidized glutathione (GSSG) ratios as compared to normal fibroblasts. The significant increase of ROS levels and the alteration of the glutathione redox state following silencing of XPA confirmed the causal relationship between a functional XPA and the control of redox balance. Proton nuclear magnetic resonance (¹H NMR) analysis of the metabolic profile revealed a more glycolytic metabolism and higher ATP levels in XP-A than in normal primary fibroblasts. This perturbation of bioenergetics is associated with different morphology and response of mitochondria to targeted toxicants. In line with cancer susceptibility, XP-A primary fibroblasts showed increased spontaneous micronuclei (MN) frequency, a hallmark of cancer risk. The increased MN frequency was not affected by inhibition of ROS to normal levels by N-acetyl-L-cysteine. Copyright © 2015 Elsevier B.V. All rights reserved.

In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum.

PubMed

Nasir, Muhammad; Ahmad, Nafees; Sieber, Christian M K; Latif, Amir; Malik, Salman Akbar; Hameed, Abdul

2013-09-24

Xeroderma Pigmentosum (XP) is a rare skin disorder characterized by skin hypersensitivity to sunlight and abnormal pigmentation. The aim of this study was to investigate the genetic cause of a severe XP phenotype in a consanguineous Pakistani family and in silico characterization of any identified disease-associated mutation. The XP complementation group was assigned by genotyping of family for known XP loci. Genotyping data mapped the family to complementation group A locus, involving XPA gene. Mutation analysis of the candidate XP gene by DNA sequencing revealed a novel deletion mutation (c.654del A) in exon 5 of XPA gene. The c.654del A, causes frameshift, which pre-maturely terminates protein and result into a truncated product of 222 amino acid (aa) residues instead of 273 (p.Lys218AsnfsX5). In silico tools were applied to study the likelihood of changes in structural motifs and thus interaction of mutated protein with binding partners. In silico analysis of mutant protein sequence, predicted to affect the aa residue which attains coiled coil structure. The coiled coil structure has an important role in key cellular interactions, especially with DNA damage-binding protein 2 (DDB2), which has important role in DDB-mediated nucleotide excision repair (NER) system. Our findings support the fact of genetic and clinical heterogeneity in XP. The study also predicts the critical role of DDB2 binding region of XPA protein in NER pathway and opens an avenue for further research to study the functional role of the mutated protein domain.

A new version of Scilab software package for the study of dynamical systems

NASA Astrophysics Data System (ADS)

Bordeianu, C. C.; Felea, D.; Beşliu, C.; Jipa, Al.; Grossu, I. V.

2009-11-01

This work presents a new version of a software package for the study of chaotic flows, maps and fractals [1]. The codes were written using Scilab, a software package for numerical computations providing a powerful open computing environment for engineering and scientific applications. It was found that Scilab provides various functions for ordinary differential equation solving, Fast Fourier Transform, autocorrelation, and excellent 2D and 3D graphical capabilities. The chaotic behaviors of the nonlinear dynamics systems were analyzed using phase-space maps, autocorrelation functions, power spectra, Lyapunov exponents and Kolmogorov-Sinai entropy. Various well-known examples are implemented, with the capability of the users inserting their own ODE or iterative equations. New version program summaryProgram title: Chaos v2.0 Catalogue identifier: AEAP_v2_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEAP_v2_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 1275 No. of bytes in distributed program, including test data, etc.: 7135 Distribution format: tar.gz Programming language: Scilab 5.1.1. Scilab 5.1.1 should be installed before running the program. Information about the installation can be found at http://wiki.scilab.org/howto/install/windows. Computer: PC-compatible running Scilab on MS Windows or Linux Operating system: Windows XP, Linux RAM: below 150 Megabytes Classification: 6.2 Catalogue identifier of previous version: AEAP_v1_0 Journal reference of previous version: Comput. Phys. Comm. 178 (2008) 788 Does the new version supersede the previous version?: Yes Nature of problem: Any physical model containing linear or nonlinear ordinary differential equations (ODE). Solution method: Numerical solving of ordinary differential equations for the study of chaotic flows. The chaotic behavior of the nonlinear dynamical system is analyzed using Poincare sections, phase-space maps, autocorrelation functions, power spectra, Lyapunov exponents and Kolmogorov-Sinai entropies. Numerical solving of iterative equations for the study of maps and fractals. Reasons for new version: The program has been updated to use the new version 5.1.1 of Scilab with new graphical capabilities [2]. Moreover, new use cases have been added which make the handling of the program easier and more efficient. Summary of revisions: A new use case concerning coupled predator-prey models has been added [3]. Three new use cases concerning fractals (Sierpinsky gasket, Barnsley's Fern and Tree) have been added [3]. The graphical user interface (GUI) of the program has been reconstructed to include the new use cases. The program has been updated to use Scilab 5.1.1 with the new graphical capabilities. Additional comments: The program package contains 12 subprograms. interface.sce - the graphical user interface (GUI) that permits the choice of a routine as follows 1.sci - Lorenz dynamical system 2.sci - Chua dynamical system 3.sci - Rosler dynamical system 4.sci - Henon map 5.sci - Lyapunov exponents for Lorenz dynamical system 6.sci - Lyapunov exponent for the logistic map 7.sci - Shannon entropy for the logistic map 8.sci - Coupled predator-prey model 1f.sci - Sierpinsky gasket 2f.sci - Barnsley's Fern 3f.sci - Barnsley's Tree Running time: 10 to 20 seconds for problems that do not involve Lyapunov exponents calculation; 60 to 1000 seconds for problems that involve high orders ODE, Lyapunov exponents calculation and fractals. References: C.C. Bordeianu, C. Besliu, Al. Jipa, D. Felea, I. V. Grossu, Comput. Phys. Comm. 178 (2008) 788. S. Campbell, J.P. Chancelier, R. Nikoukhah, Modeling and Simulation in Scilab/Scicos, Springer, 2006. R.H. Landau, M.J. Paez, C.C. Bordeianu, A Survey of Computational Physics, Introductory Computational Science, Princeton University Press, 2008.

ChromAlign: A two-step algorithmic procedure for time alignment of three-dimensional LC-MS chromatographic surfaces.

PubMed

Sadygov, Rovshan G; Maroto, Fernando Martin; Hühmer, Andreas F R

2006-12-15

We present an algorithmic approach to align three-dimensional chromatographic surfaces of LC-MS data of complex mixture samples. The approach consists of two steps. In the first step, we prealign chromatographic profiles: two-dimensional projections of chromatographic surfaces. This is accomplished by correlation analysis using fast Fourier transforms. In this step, a temporal offset that maximizes the overlap and dot product between two chromatographic profiles is determined. In the second step, the algorithm generates correlation matrix elements between full mass scans of the reference and sample chromatographic surfaces. The temporal offset from the first step indicates a range of the mass scans that are possibly correlated, then the correlation matrix is calculated only for these mass scans. The correlation matrix carries information on highly correlated scans, but it does not itself determine the scan or time alignment. Alignment is determined as a path in the correlation matrix that maximizes the sum of the correlation matrix elements. The computational complexity of the optimal path generation problem is reduced by the use of dynamic programming. The program produces time-aligned surfaces. The use of the temporal offset from the first step in the second step reduces the computation time for generating the correlation matrix and speeds up the process. The algorithm has been implemented in a program, ChromAlign, developed in C++ language for the .NET2 environment in WINDOWS XP. In this work, we demonstrate the applications of ChromAlign to alignment of LC-MS surfaces of several datasets: a mixture of known proteins, samples from digests of surface proteins of T-cells, and samples prepared from digests of cerebrospinal fluid. ChromAlign accurately aligns the LC-MS surfaces we studied. In these examples, we discuss various aspects of the alignment by ChromAlign, such as constant time axis shifts and warping of chromatographic surfaces.

PETOOL: MATLAB-based one-way and two-way split-step parabolic equation tool for radiowave propagation over variable terrain

NASA Astrophysics Data System (ADS)

Ozgun, Ozlem; Apaydin, Gökhan; Kuzuoglu, Mustafa; Sevgi, Levent

2011-12-01

A MATLAB-based one-way and two-way split-step parabolic equation software tool (PETOOL) has been developed with a user-friendly graphical user interface (GUI) for the analysis and visualization of radio-wave propagation over variable terrain and through homogeneous and inhomogeneous atmosphere. The tool has a unique feature over existing one-way parabolic equation (PE)-based codes, because it utilizes the two-way split-step parabolic equation (SSPE) approach with wide-angle propagator, which is a recursive forward-backward algorithm to incorporate both forward and backward waves into the solution in the presence of variable terrain. First, the formulation of the classical one-way SSPE and the relatively-novel two-way SSPE is presented, with particular emphasis on their capabilities and the limitations. Next, the structure and the GUI capabilities of the PETOOL software tool are discussed in detail. The calibration of PETOOL is performed and demonstrated via analytical comparisons and/or representative canonical tests performed against the Geometric Optic (GO) + Uniform Theory of Diffraction (UTD). The tool can be used for research and/or educational purposes to investigate the effects of a variety of user-defined terrain and range-dependent refractivity profiles in electromagnetic wave propagation. Program summaryProgram title: PETOOL (Parabolic Equation Toolbox) Catalogue identifier: AEJS_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEJS_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 143 349 No. of bytes in distributed program, including test data, etc.: 23 280 251 Distribution format: tar.gz Programming language: MATLAB (MathWorks Inc.) 2010a. Partial Differential Toolbox and Curve Fitting Toolbox required Computer: PC Operating system: Windows XP and Vista Classification: 10 Nature of problem: Simulation of radio-wave propagation over variable terrain on the Earth's surface, and through homogeneous and inhomogeneous atmosphere. Solution method: The program implements one-way and two-way Split-Step Parabolic Equation (SSPE) algorithm, with wide-angle propagator. The SSPE is, in general, an initial-value problem starting from a reference range (typically from an antenna), and marching out in range by obtaining the field along the vertical direction at each range step, through the use of step-by-step Fourier transformations. The two-way algorithm incorporates the backward-propagating waves into the standard one-way SSPE by utilizing an iterative forward-backward scheme for modeling multipath effects over a staircase-approximated terrain. Unusual features: This is the first software package implementing a recursive forward-backward SSPE algorithm to account for the multipath effects during radio-wave propagation, and enabling the user to easily analyze and visualize the results of the two-way propagation with GUI capabilities. Running time: Problem dependent. Typically, it is about 1.5 ms (for conducting ground) and 4 ms (for lossy ground) per range step for a vertical field profile of vector length 1500, on Intel Core 2 Duo 1.6 GHz with 2 GB RAM under Windows Vista.

Experimental Assessment of Two Exothermic Systems to Neutralize Landmines

DTIC Science & Technology

2006-02-01

S M 21 A T/ st ee l 4. 9 2 kg (5 lb ) 6” 1’ 0 5” D et on at io n of re si du al e xp lo si ve , cr at er 1 .0 m x...P T- M i-B a III A T/ ba ke lit e 7. 2 5. 0 kg (1 1 lb ) 40 ” 14 ’ 2 8” S m al l D et on at io n of re si du al e xp lo si ve... S m al l c ra te r

Rapidly progressing renal cell carcinoma associated with Xp11.2 translocations: a case report

PubMed Central

2012-01-01

Introduction Renal cell carcinoma associated with Xp11.2 translocations is frequently reported in children, but adult-onset is rare. Here, the case of an adult male who developed a renal cell carcinoma associated with Xp11.2 translocations is presented. Case presentation A 38-year-old Asian man presented with left back pain and macroscopic hematuria. Computed tomography revealed a left renal tumor (T3N2M0), and a left radical nephrectomy was performed. Hematoxylin-eosin staining revealed papillary architecture and clear or eosinophilic cytoplasm, and the diagnosis of renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusion was made by the immunohistochemical determination of transcription factor E3 protein. In spite of adjuvant therapy with α-interferon, a recurrent tumor was found in his left lung by computed tomography three months after the nephrectomy. Interleukin-2, tyrosine kinase inhibitors and mammalian target of rapamycin inhibitors showed no effect on tumor progression. Conclusions Renal cell carcinomas associated with Xp11.2 translocations have an aggressive clinical course in adults. Strict diagnosis using the immunohistochemistry of transcription factor E3 protein is important to predict the prognosis of such patients and new strategies need to be determined to treat patients with these tumors PMID:22738297

Rapidly progressing renal cell carcinoma associated with Xp11.2 translocations: a case report.

PubMed

Morii, Akihiro; Fujiuchi, Yasuyoshi; Nomoto, Kazuhiro; Komiya, Akira; Fuse, Hideki

2012-06-27

Renal cell carcinoma associated with Xp11.2 translocations is frequently reported in children, but adult-onset is rare. Here, the case of an adult male who developed a renal cell carcinoma associated with Xp11.2 translocations is presented. A 38-year-old Asian man presented with left back pain and macroscopic hematuria. Computed tomography revealed a left renal tumor (T3N2M0), and a left radical nephrectomy was performed. Hematoxylin-eosin staining revealed papillary architecture and clear or eosinophilic cytoplasm, and the diagnosis of renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusion was made by the immunohistochemical determination of transcription factor E3 protein. In spite of adjuvant therapy with α-interferon, a recurrent tumor was found in his left lung by computed tomography three months after the nephrectomy. Interleukin-2, tyrosine kinase inhibitors and mammalian target of rapamycin inhibitors showed no effect on tumor progression. Renal cell carcinomas associated with Xp11.2 translocations have an aggressive clinical course in adults. Strict diagnosis using the immunohistochemistry of transcription factor E3 protein is important to predict the prognosis of such patients and new strategies need to be determined to treat patients with these tumors.

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription

PubMed Central

Singh, Amita; Compe, Emanuel; Le May, Nicolas; Egly, Jean-Marc

2015-01-01

Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the transcription and DNA-repair factor TFIIH lead to three autosomal-recessive disorders: xeroderma pigmentosum (XP), XP associated with Cockayne syndrome (XP/CS), and trichothiodystrophy (TTD). Although these diseases were originally associated with defects in DNA repair, transcription deficiencies might be also implicated. By using retinoic acid receptor beta isoform 2 (RARB2) as a model in several cells bearing mutations in genes encoding TFIIH subunits, we observed that (1) the recruitment of the TFIIH complex was altered at the activated RARB2 promoter, (2) TFIIH participated in the recruitment of nucleotide excision repair (NER) factors during transcription in a manner different from that observed during NER, and (3) the different TFIIH variants disturbed transcription by having distinct consequences on post-translational modifications of histones, DNA-break induction, DNA demethylation, and gene-loop formation. The transition from heterochromatin to euchromatin was disrupted depending on the variant, illustrating the fact that TFIIH, by contributing to NER factor recruitment, orchestrates chromatin remodeling. The subtle transcriptional differences found between various TFIIH variants thus participate in the phenotypic variability observed among XP, XP/CS, and TTD individuals. PMID:25620205

Fractional CO2 laser is an effective therapeutic modality for xanthelasma palpebrarum: a randomized clinical trial.

PubMed

Esmat, Samia M; Elramly, Amany Z; Abdel Halim, Dalia M; Gawdat, Heba I; Taha, Hanaa I

2014-12-01

Xanthelasma palpebrarum (XP) is a common cosmetic concern. Although there is a wide range of therapeutic modalities for XP, there is no general consensus on the optimal treatment for such condition. Compare the efficacy and safety of super pulsed (SP) and fractional CO2 lasers in the treatment of XP. This prospective randomized comparative clinical study included 20 adult patients with bilateral and symmetrical XP lesions. Xanthelasma palpebrarum lesions were randomly assigned to treatment by either single session of ablative SP CO2 laser or 3 to 5 sessions of ablative fractional CO2 laser with monthly intervals. All patients were assessed using digital photography and optical coherence tomography images. Xanthelasma palpebrarum lesions on both sides were successfully removed with significant improvement in size, color, and thickness. Although lesions treated by SP CO2 laser showed significantly better improvement regarding color and thickness of the lesions, downtime and patient satisfaction were significantly better for lesions treated with fractional CO2 laser. Scarring and recurrence were significantly higher in lesions treated by SP CO2 laser. Ablative fractional CO2 laser is an effective and safe therapeutic option for XP with significantly shorter downtime and higher patient satisfaction compared with SP CO2 laser.

RBM10-TFE3 Renal Cell Carcinoma: A Potential Diagnostic Pitfall Due to Cryptic Intrachromosomal Xp11.2 Inversion Resulting in False-negative TFE3 FISH.

PubMed

Argani, Pedram; Zhang, Lei; Reuter, Victor E; Tickoo, Satish K; Antonescu, Cristina R

2017-05-01

Xp11 translocation renal cell carcinoma (RCC) are defined by chromosome translocations involving the Xp11 breakpoint which results in one of a variety of TFE3 gene fusions. TFE3 break-apart florescence in situ hybridization (FISH) assays are generally preferred to TFE3 immunohistochemistry (IHC) as a means of confirming the diagnosis in archival material, as FISH is less sensitive to the variable fixation which can result in false positive or false negative IHC. Prompted by a case report in the cytogenetics literature, we identify 3 cases of Xp11 translocation RCC characterized by a subtle chromosomal inversion involving the short arm of the X chromosome, resulting in an RBM10-TFE3 gene fusion. TFE3 rearrangement was not detected by conventional TFE3 break-apart FISH, but was suggested by strong diffuse TFE3 immunoreactivity in a clean background. We then developed novel fosmid probes to detect the RBM10-TFE3 gene fusion in archival material. These cases validate RBM10-TFE3 as a recurrent gene fusion in Xp11 translocation RCC, illustrate a source of false-negative TFE3 break-apart FISH, and highlight the complementary role of TFE3 IHC and TFE3 FISH.

75 FR 27984 - Broadband Technology Opportunities Program

Federal Register 2010, 2011, 2012, 2013, 2014

2010-05-19

....: 0907141137-0222-10] RIN 0660-ZA28 Broadband Technology Opportunities Program AGENCY: National...; Reopening of Application Filing Window for Broadband Technology Opportunities Program Comprehensive... filing window for the Broadband Technology Opportunities Program (BTOP) that the agency established...

An electron tomography algorithm for reconstructing 3D morphology using surface tangents of projected scattering interfaces

NASA Astrophysics Data System (ADS)

Petersen, T. C.; Ringer, S. P.

2010-03-01

Upon discerning the mere shape of an imaged object, as portrayed by projected perimeters, the full three-dimensional scattering density may not be of particular interest. In this situation considerable simplifications to the reconstruction problem are possible, allowing calculations based upon geometric principles. Here we describe and provide an algorithm which reconstructs the three-dimensional morphology of specimens from tilt series of images for application to electron tomography. Our algorithm uses a differential approach to infer the intersection of projected tangent lines with surfaces which define boundaries between regions of different scattering densities within and around the perimeters of specimens. Details of the algorithm implementation are given and explained using reconstruction calculations from simulations, which are built into the code. An experimental application of the algorithm to a nano-sized Aluminium tip is also presented to demonstrate practical analysis for a real specimen. Program summaryProgram title: STOMO version 1.0 Catalogue identifier: AEFS_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEFS_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 2988 No. of bytes in distributed program, including test data, etc.: 191 605 Distribution format: tar.gz Programming language: C/C++ Computer: PC Operating system: Windows XP RAM: Depends upon the size of experimental data as input, ranging from 200 Mb to 1.5 Gb Supplementary material: Sample output files, for the test run provided, are available. Classification: 7.4, 14 External routines: Dev-C++ ( http://www.bloodshed.net/devcpp.html) Nature of problem: Electron tomography of specimens for which conventional back projection may fail and/or data for which there is a limited angular range. The algorithm does not solve the tomographic back-projection problem but rather reconstructs the local 3D morphology of surfaces defined by varied scattering densities. Solution method: Reconstruction using differential geometry applied to image analysis computations. Restrictions: The code has only been tested with square images and has been developed for only single-axis tilting. Running time: For high quality reconstruction, 5-15 min

Automatic computation of the travelling wave solutions to nonlinear PDEs

NASA Astrophysics Data System (ADS)

Liang, Songxin; Jeffrey, David J.

2008-05-01

Various extensions of the tanh-function method and their implementations for finding explicit travelling wave solutions to nonlinear partial differential equations (PDEs) have been reported in the literature. However, some solutions are often missed by these packages. In this paper, a new algorithm and its implementation called TWS for solving single nonlinear PDEs are presented. TWS is implemented in MAPLE 10. It turns out that, for PDEs whose balancing numbers are not positive integers, TWS works much better than existing packages. Furthermore, TWS obtains more solutions than existing packages for most cases. Program summaryProgram title:TWS Catalogue identifier:AEAM_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEAM_v1_0.html Program obtainable from:CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions:Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.:1250 No. of bytes in distributed program, including test data, etc.:78 101 Distribution format:tar.gz Programming language:Maple 10 Computer:A laptop with 1.6 GHz Pentium CPU Operating system:Windows XP Professional RAM:760 Mbytes Classification:5 Nature of problem:Finding the travelling wave solutions to single nonlinear PDEs. Solution method:Based on tanh-function method. Restrictions:The current version of this package can only deal with single autonomous PDEs or ODEs, not systems of PDEs or ODEs. However, the PDEs can have any finite number of independent space variables in addition to time t. Unusual features:For PDEs whose balancing numbers are not positive integers, TWS works much better than existing packages. Furthermore, TWS obtains more solutions than existing packages for most cases. Additional comments:It is easy to use. Running time:Less than 20 seconds for most cases, between 20 to 100 seconds for some cases, over 100 seconds for few cases. References: [1] E.S. Cheb-Terrab, K. von Bulow, Comput. Phys. Comm. 90 (1995) 102. [2] S.A. Elwakil, S.K. El-Labany, M.A. Zahran, R. Sabry, Phys. Lett. A 299 (2002) 179. [3] E. Fan, Phys. Lett. 277 (2000) 212. [4] W. Malfliet, Amer. J. Phys. 60 (1992) 650. [5] W. Malfliet, W. Hereman, Phys. Scripta 54 (1996) 563. [6] E.J. Parkes, B.R. Duffy, Comput. Phys. Comm. 98 (1996) 288.

Symbolic computation of the Hartree-Fock energy from a chiral EFT three-nucleon interaction at N 2LO

NASA Astrophysics Data System (ADS)

Gebremariam, B.; Bogner, S. K.; Duguet, T.

2010-06-01

We present the first of a two-part Mathematica notebook collection that implements a symbolic approach for the application of the density matrix expansion (DME) to the Hartree-Fock (HF) energy from a chiral effective field theory (EFT) three-nucleon interaction at N 2LO. The final output from the notebooks is a Skyrme-like energy density functional that provides a quasi-local approximation to the non-local HF energy. In this paper, we discuss the derivation of the HF energy and its simplification in terms of the scalar/vector-isoscalar/isovector parts of the one-body density matrix. Furthermore, a set of steps is described and illustrated on how to extend the approach to other three-nucleon interactions. Program summaryProgram title: SymbHFNNN Catalogue identifier: AEGC_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEGC_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 96 666 No. of bytes in distributed program, including test data, etc.: 378 083 Distribution format: tar.gz Programming language: Mathematica 7.1 Computer: Any computer running Mathematica 6.0 and later versions Operating system: Windows Xp, Linux/Unix RAM: 256 Mb Classification: 5, 17.16, 17.22 Nature of problem: The calculation of the HF energy from the chiral EFT three-nucleon interaction at N 2LO involves tremendous spin-isospin algebra. The problem is compounded by the need to eventually obtain a quasi-local approximation to the HF energy, which requires the HF energy to be expressed in terms of scalar/vector-isoscalar/isovector parts of the one-body density matrix. The Mathematica notebooks discussed in this paper solve the latter issue. Solution method: The HF energy from the chiral EFT three-nucleon interaction at N 2LO is cast into a form suitable for an automatic simplification of the spin-isospin traces. Several Mathematica functions and symbolic manipulation techniques are used to obtain the result in terms of the scalar/vector-isoscalar/isovector parts of the one-body density matrix. Running time: Several hours

Quantifying the (X/peanut)-shaped structure of the Milky Way - new constraints on the bar geometry

NASA Astrophysics Data System (ADS)

Ciambur, Bogdan C.; Graham, Alister W.; Bland-Hawthorn, Joss

2017-11-01

The nature, size and orientation of the Milky Way's bar and `bulge' have been the subject of conflicting interpretations in the literature. Here, we present a novel approach to inferring the properties of the long bar, which extends beyond the inner `bulge', by using information encoded in the Galaxy's X/peanut (X/P)-shaped structure. We perform a quantitative analysis of the X/P feature seen in WISE wide-field images, at 3.4 and 4.6 μm, by measuring the deviations of the isophotes from pure ellipses and using the radial profile of their sixth-order Fourier harmonic (cosine term, B6). In addition to the vertical height and integrated `strength' of the observed X/P instability, we report an intrinsic radius RΠ,int = 1.67 ± 0.27 kpc, and an orientation angle of α = 37°+7°-10° with respect to our line of sight to the Galactic Centre. Based on X/P structures observed in other galaxies, we assume that the Milky Way's X/P structure is intrinsically symmetric, aligned with the long Galactic bar, and that its size is correlated with this bar. The implications for the Galactic bar are that it is oriented at a 37° angle and has a radius of ≈4.2 kpc, but possibly as low as ≈3.2 kpc. We have investigated how the Milky Way's X/P structure compares with analogues in other galaxies, and find that it is consistent with recently established scaling relations, though with a marginally stronger X/P instability than expected. We additionally perform a photometric decomposition of the Milky Way's major axis surface brightness profile, accounting for spiral structure, and determine an average disc scalelength of h = 2.54 ± 0.16 kpc.

In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum

PubMed Central

2013-01-01

Background Xeroderma Pigmentosum (XP) is a rare skin disorder characterized by skin hypersensitivity to sunlight and abnormal pigmentation. The aim of this study was to investigate the genetic cause of a severe XP phenotype in a consanguineous Pakistani family and in silico characterization of any identified disease-associated mutation. Results The XP complementation group was assigned by genotyping of family for known XP loci. Genotyping data mapped the family to complementation group A locus, involving XPA gene. Mutation analysis of the candidate XP gene by DNA sequencing revealed a novel deletion mutation (c.654del A) in exon 5 of XPA gene. The c.654del A, causes frameshift, which pre-maturely terminates protein and result into a truncated product of 222 amino acid (aa) residues instead of 273 (p.Lys218AsnfsX5). In silico tools were applied to study the likelihood of changes in structural motifs and thus interaction of mutated protein with binding partners. In silico analysis of mutant protein sequence, predicted to affect the aa residue which attains coiled coil structure. The coiled coil structure has an important role in key cellular interactions, especially with DNA damage-binding protein 2 (DDB2), which has important role in DDB-mediated nucleotide excision repair (NER) system. Conclusions Our findings support the fact of genetic and clinical heterogeneity in XP. The study also predicts the critical role of DDB2 binding region of XPA protein in NER pathway and opens an avenue for further research to study the functional role of the mutated protein domain. PMID:24063568

Phase II trial of capecitabine plus modified cisplatin (mXP) as first-line therapy in Japanese patients with metastatic gastric cancer (KSCC1104).

PubMed

Satake, Hironaga; Iwatsuki, Masaaki; Uenosono, Yoshikazu; Shiraishi, Takeshi; Tanioka, Hiroaki; Saeki, Hiroshi; Sugimachi, Keishi; Kitagawa, Dai; Shimokawa, Mototsugu; Oki, Eiji; Emi, Yasunori; Kakeji, Yoshihiro; Tsuji, Akihito; Akagi, Yoshito; Natsugoe, Shoji; Baba, Hideo; Maehara, Yoshihiko

2017-01-01

Capecitabine plus cisplatin (XP) is a standard therapy for metastatic gastric cancer (mGC). However, while results from previous phase III trials suggested that the cisplatin dosage should be reduced in Japanese patients, no clinical data exist to support this. Here, we conducted a multicenter study to evaluate the efficacy and safety of modified XP (mXP) in Japanese patients with mGC. Patients with previously untreated mGC received mXP (cisplatin 60 mg/m 2 on day 1 plus capecitabine 1000 mg/m 2 twice daily on days 1-14) every 3 weeks. The primary endpoint was the Response Evaluation Criteria in Solid Tumors-confirmed overall response rate (ORR). A sample size of 40 was planned for a threshold ORR of 30% and an expected value of 50%, with a one-sided α of 0.05 and a beta of approximately 0.2. Forty-two patients were enrolled. One patient did not fulfill the eligibility criteria; therefore, a total of 41 patients were assessed. The results were as follows: complete response in 2 patients, partial response in 16, stable disease in 14, progressive disease in 8, and no evaluation in 1. The confirmed ORR was 43.9% (95% confidence interval 28.7-59.1%). The median progression-free survival and median overall survival were 4.6 and 11.3 months, respectively. The most common grade 3 or 4 adverse events were neutropenia (37.5%), anemia (24.4%), anorexia (24.4%), and nausea (12.2%). First-line chemotherapy with mXP in Japanese patients with mGC did not reach its primary objective. However, it did show a promising response rate and an acceptable tolerability profile.

Galactic star formation rates gauged by stellar end-products

NASA Astrophysics Data System (ADS)

Persic, M.; Rephaeli, Y.

2007-02-01

Young galactic X-ray point sources (XPs) closely trace the ongoing star formation in galaxies. From measured XP number counts we extract the collective 2-10 keV luminosity of young XPs, L_x^yXP, which we use to gauge the current star formation rate (SFR) in galaxies. We find that, for a sample of local star-forming galaxies (i.e., normal spirals and mild starbursts), L_x^yXP correlates linearly with the SFR over three decades in luminosity. A separate, high-SFR sample of starburst ULIRGs can be used to check the calibration of the relation. Using their (presumably SF-related) total 2-10 keV luminosities we find that these sources satisfy the SFR-L_x^yXP relation, as defined by the weaker sample, and extend it to span ˜5 decades in luminosity. The SFR-L_x^yXP relation is also likely to hold for distant (z ˜ 1) Hubble Deep Field North galaxies, especially so if these high-SFR objects are similar to the (more nearby) ULIRGs. It is argued that the SFR-L_x^yXP relation provides the most adequate X-ray estimator of instantaneous SFR by the phenomena characterizing massive stars from their birth (FIR emission from placental dust clouds) through their death as compact remnants (emitting X-rays by accreting from a close donor). For local, low/intermediate-SFR galaxies, the simultaneous existence of a correlation of the instantaneous SFR with the total 2-10 keV luminosity, L_x, which traces the SFR integrated over the last ˜109 yr, suggests that during such epoch the SF in these galaxies has been proceeding at a relatively constant rate.

Molecular definition of breakpoints associated with human Xq isochromosomes: Implications for mechanisms of formation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wolff, D.J.; Miller, A.P.; Schwartz, S.

1996-01-01

To test the centromere misdivision model of isochromosome formation, we have defined the breakpoints of cytogenetically monocentric and dicentric Xq isochromosomes (i(Xq)) from Turner syndrome probands, using FISH with cosmids and YACs derived from a contig spanning proximal Xp. Seven different pericentromeric breakpoints were identified, with 10 of 11 of the i(Xq)s containing varying amounts of material from Xp. Only one of the eight cytogenetically monocentric i(Xq)s demonstrated a single alpha-satellite (DXZ1) signal, consistent with classical models involving centromere misdivision. The remaining seven were inconsistent with such a model and had breakpoints that spanned proximal Xp11.21: one was between DXZ1more » and the most proximal marker, ZXDA; one occurred between the duplicated genes, ZXDA and ZXDB; two were {approximately}2 Mb from DXZ1; two were adjacent to ALAS2 located 3.5 Mb from DXZ1; and the largest had a breakpoint just distal to DXS1013E, indicating the inclusion of 8 Mb of Xp DNA between centromeres. The three cytologically dicentric i(Xq)s had breakpoints distal to DXS423E in Xp11.22 and therefore contained {ge}12 Mb of DNA between centromeres. These data demonstrate that the majority of breakpoints resulting in i(Xq) formation are in band Xp11.2 and not in the centromere itself. Therefore, we hypothesize that the predominant mechanism of i(Xq) formation involves sequences in the proximal short arm that are prone to breakage and reunion events between sister chromatids or homologous X chromosomes. 39 refs., 4 figs., 2 tabs.« less

Usefulness of a break-apart FISH assay in the diagnosis of Xp11.2 translocation renal cell carcinoma.

PubMed

Kim, Soo Hee; Choi, Yoomi; Jeong, Hae Yeon; Lee, Kyoungbun; Chae, Ji Youn; Moon, Kyung Chul

2011-09-01

Xp11.2 translocation renal cell carcinoma (RCC) is a rare subtype of RCC predominantly reported in young patients. It results from gene fusions between the transcription factor E3 (TFE3) gene, which is located on chromosome Xp11.2, and various fusion partners. Recently, a dual color, break-apart fluorescence in situ hybridization (FISH) assay to detect Xp11.2 translocation was reported. We performed this study to evaluate the usefulness of the FISH assay in the diagnosis of Xp11.2 translocation RCC using a commercially available TFE3 break-apart probe. We immunohistochemically analyzed TFE3 nuclear expression in 809 cases of RCCs using 14 tissue microarray blocks and selected nine cases those showed moderate to strong positive nuclear immunoreactivity for TFE3. The extent of TFE3 nuclear expression was variable. The TFE3 FISH assay was performed in these 9 selected cases and 44 negative control cases. Only four out of nine selected cases showed the TFE3 break-apart signal. TFE3 FISH-positive cases mainly showed diffuse and strong TFE3 immunopositivity, but one case revealed focal and moderate TFE3 staining. On the contrary, TFE3 FISH-negative cases mainly revealed focal and moderate TFE3 immunoreactivity, however, one FISH-negative case revealed diffuse and strong TFE3 nuclear immunopositivity. All negative control cases revealed normal TFE3 FISH results. Our results reveal that TFE3 immunohistochemistry can show false-positive results, and that the TFE3 break-apart FISH assay is a useful complementary method for confirming the diagnosis of Xp11.2 translocation RCC.

Does the Fuhrman or World Health Organization/International Society of Urological Pathology Grading System Apply to the Xp11.2 Translocation Renal Cell Carcinoma?: A 10-Year Single-Center Study.

PubMed

Liu, Ning; Gan, Weidong; Qu, Feng; Wang, Zhen; Zhuang, Wenyuan; Agizamhan, Sezim; Xu, Linfeng; Yin, Juanjuan; Guo, Hongqian; Li, Dongmei

2018-04-01

The Fuhrman and World Health Organization/International Society of Urological Pathology (WHO/ISUP) grading systems are widely used to predict survival for patients with conventional renal cell carcinoma. To determine the validity of nuclear grading systems (both the Fuhrman and the WHO/ISUP) and the individual components of the Fuhrman grading system in predicting the prognosis of Xp11.2 translocation renal cell carcinoma (Xp11.2 tRCC), we identified and followed up 47 patients with Xp11.2 tRCC in our center from January 2007 to June 2017. The Fuhrman and WHO/ISUP grading was reassigned by two pathologists. Nuclear size and shape were determined for each case based on the greatest degree of nuclear pleomorphism using image analysis software. Univariate and multivariate analyses were performed to evaluate the capacity of the grading systems and nuclear parameters to predict overall survival and progression-free survival. On univariate Cox regression analysis, the parameters of nuclear size were associated significantly with overall survival and progression-free survival, whereas the grading systems and the parameters of nuclear shape failed to reach a significant correlation. On multivariate analysis, however, none of the parameters was associated independently with survival. Our findings indicate that neither the Fuhrman nor the WHO/ISUP grading system is applicable to Xp11.2 tRCC. The assessment of nuclear size instead may be novel outcome predictors for patients with Xp11.2 tRCC. Copyright © 2018 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

Diagnosis of Xp11.2 Translocation Renal Cell Carcinomas in the Thai Patients.

PubMed

Junthaworn, Boontarika; Pradniwat, Kanapon; Hanamornroongruang, Suchanan

2015-11-01

Xp11.2 translocation renal cell carcinomas (TRCCs) are rare tumors recently accepted as a separated tumor type in 2004 WHO classification. To diagnose these tumors, histological recognition and confirmation of translocation are necessary. While the incidence of overall renal cell carcinomas (RCCs) is increased after the age of 40, Xp11.2 TRCCs are predominantly reported in young patients. The incidence of these tumors in Thailand has not been evaluated. To identify the frequency of Xp11.2 TRCCs, clinical presentation and follow-up information in 40 year-old or younger patients by using TFE3 immunostaining to confirm the translocation. All cases of 0- to 40-years-old patients diagnosed as RCCs from nephrectomy specimens between 2001 and 2011 at Siriraj Hospital were reviewed by one pathology resident and two pathologists. Immunohistochemical staining for TFE3 was performed on cases morphologically suspected for TRCC or showing unusual histology. Four cases consistent with Xp11.2 TRCC were identified by TFE3 immunostaining from all 31 cases (12.9%). Three cases were females and one was male. Two cases were at stage 4 and passed away several months after the operation. The other two patients were at stage 2. One patient is alive without recurrence for at least 36 months after surgery alone. The other died from underlying SLE. TFE3 immunostaining is a useful andpractical toolfor screening and diagnosis of Xp11.2 TRCCs, but staining results can be difficult to interpret. Thus, genetic analysis is still necessary especially when immunostaining shows problematic result. Fresh tumor tissue sampling in all young patients is recommended in case of further genetic studies needed.

Multiple isotope analyses of the pike tapeworm Triaenophorus nodulosus reveal peculiarities in consumer-diet discrimination patterns.

PubMed

Behrmann-Godel, J; Yohannes, E

2015-03-01

Previous studies of dietary isotope discrimination have led to the general expectation that a consumer will exhibit enriched stable isotope levels relative to its diet. Parasite-host systems are specific consumer-diet pairs in which the consumer (parasite) feeds exclusively on one dietary source: host tissue. However, the small numbers of studies previously carried out on isotopic discrimination in parasite-host (ΔXP-HT) systems have yielded controversial results, showing some parasites to be isotopically depleted relative to their food source, while others are enriched or in equilibrium with their hosts. Although the mechanism for these deviations from expectations remains to be understood, possible influences of specific feeding niche or selection for only a few nutritional components by the parasite are discussed. ΔXP-HT for multiple isotopes (δ13C, δ15N, δ34S) were measured in the pike tapeworm Triaenophorus nodulosus and two of its life-cycle fish hosts, perch Perca fluviatilis and pike Esox lucius, within which T. nodulosus occupies different feeding locations. Variability in the value of ΔXP-HT calculated for the parasite and its different hosts indicates an influence of feeding location on isotopic discrimination. In perch liver ΔXP-HT was relatively more negative for all three stable isotopes. In pike gut ΔXP-HT was more positive for δ13C, as expected in conventional consumer-diet systems. For parasites feeding on pike gut, however, the δ15N and δ34S isotope values were comparable with those of the host. We discuss potential causes of these deviations from expectations, including the effect of specific parasite feeding niches, and conclude that ΔXP-HT should be critically evaluated for trophic interactions between parasite and host before general patterns are assumed.

Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.

PubMed

Hadj-Rabia, S; Oriot, D; Soufir, N; Dufresne, H; Bourrat, E; Mallet, S; Poulhalon, N; Ezzedine, K; Ezzedine, E; Grandchamp, B; Taïeb, A; Catteau, B; Sarasin, A; Bodemer, C

2013-05-01

Xeroderma pigmentosum type C (XP-C) is a rare, autosomal, recessive condition characterized by the association of various clinical manifestations mostly involving the skin and eyes. To evaluate the clinical manifestations in a homogeneous, genetically characterized cohort of patients with XP-C. All patients with XP-C, which was confirmed genetically or by unscheduled DNA synthesis, from the registry of our department and from the French association of patients 'Les Enfants de la Lune' were contacted. During a planned consultation, clinical information was collected using a standardized case-record form. In total, 31 patients were seen. The mean age at diagnosis was 2.95 years; skin symptoms started at a mean age of 1.49 years. Among the patients, 52% had relatively short stature, with a height-for-weight z-score below -1 SD; 62% showed pyramidal syndrome and 45% had photophobia and/or conjunctivitis. Four patients had several pyogenic granulomas. Twenty-four patients (77%) had skin cancer. The mean age of onset of the first skin cancer was 4.76 years (range 2-14.5 years). Basal-cell carcinoma was the most frequent cancer. Melanomas were rare and mostly desmoplastic. Multinodular thyroid was the most frequent internal tumour. Our data highlight several new aspects of XP-C. Patients with XP-C are at risk of developing pyogenic granulomas, desmoplastic melanomas and multinodular thyroid. Involvement of the central nervous system is frequent, but its mechanism remains unclear. The relatively short stature of the patients needs further investigation in order to be explained. XP-C is not only a cancer-prone disorder but is also a polysystemic disorder. © 2012 The Authors. BJD © 2012 British Association of Dermatologists.

A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.

PubMed

Ono, Ryusuke; Masaki, Taro; Mayca Pozo, Franklin; Nakazawa, Yuka; Swagemakers, Sigrid M A; Nakano, Eiji; Sakai, Wataru; Takeuchi, Seiji; Kanda, Fumio; Ogi, Tomoo; van der Spek, Peter J; Sugasawa, Kaoru; Nishigori, Chikako

2016-07-01

Most patients with xeroderma pigmentosum complementation group D (XP-D) from Western countries suffer from neurological symptoms, whereas Japanese patients display only skin manifestations without neurological symptoms. We have previously suggested that these differences in clinical manifestations in XP-D patients are attributed partly to a predominant mutation in ERCC2, and the allele frequency of S541R is highest in Japan. We diagnosed a child with mild case of XP-D by the evaluation of DNA repair activity and whole-genome sequencing, and followed her ten years. Skin cancer, mental retardation, and neurological symptoms were not observed. Her minimal erythema dose was 41 mJ/cm(2) , which was slightly lower than that of healthy Japanese volunteers. The patient's cells showed sixfold hypersensitivity to UV in comparison with normal cells. Post-UV unscheduled DNA synthesis was 20.4%, and post-UV recovery of RNA synthesis was 58% of non-irradiated samples, which was lower than that of normal fibroblasts. Genome sequence analysis indicated that the patient harbored a compound heterozygous mutation of c.1621A>C and c.591_594del, resulting in p.S541R and p.Y197* in ERCC2: then, patient was diagnosed with XP-D. Y197* has not been described before. Her mild skin manifestations might be attributed to the mutational site on her genome and daily strict sun protection. c.1621A>C might be a founder mutation of ERCC2 among Japanese XP-D patients, as it was identified most frequently in Japanese XP-D patients and it has not been found elsewhere outside Japan. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Characterization of Fructose 1,6-Bisphosphatase and Sedoheptulose 1,7-Bisphosphatase from the Facultative Ribulose Monophosphate Cycle Methylotroph Bacillus methanolicus

PubMed Central

Stolzenberger, Jessica; Lindner, Steffen N.; Persicke, Marcus; Brautaset, Trygve

2013-01-01

The genome of the facultative ribulose monophosphate (RuMP) cycle methylotroph Bacillus methanolicus encodes two bisphosphatases (GlpX), one on the chromosome (GlpXC) and one on plasmid pBM19 (GlpXP), which is required for methylotrophy. Both enzymes were purified from recombinant Escherichia coli and were shown to be active as fructose 1,6-bisphosphatases (FBPases). The FBPase-negative Corynebacterium glutamicum Δfbp mutant could be phenotypically complemented with glpXC and glpXP from B. methanolicus. GlpXP and GlpXC share similar functional properties, as they were found here to be active as homotetramers in vitro, activated by Mn2+ ions and inhibited by Li+, but differed in terms of the kinetic parameters. GlpXC showed a much higher catalytic efficiency and a lower Km for fructose 1,6-bisphosphate (86.3 s−1 mM−1 and 14 ± 0.5 μM, respectively) than GlpXP (8.8 s−1 mM−1 and 440 ± 7.6 μM, respectively), indicating that GlpXC is the major FBPase of B. methanolicus. Both enzymes were tested for activity as sedoheptulose 1,7-bisphosphatase (SBPase), since a SBPase variant of the ribulose monophosphate cycle has been proposed for B. methanolicus. The substrate for the SBPase reaction, sedoheptulose 1,7-bisphosphate, could be synthesized in vitro by using both fructose 1,6-bisphosphate aldolase proteins from B. methanolicus. Evidence for activity as an SBPase could be obtained for GlpXP but not for GlpXC. Based on these in vitro data, GlpXP is a promiscuous SBPase/FBPase and might function in the RuMP cycle of B. methanolicus. PMID:24013630

Convenient method of establishing permanent lines of xeroderma pigmentosum cells. [Ultraviolet radiation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tohda, H.; Oikawa, A.; Katsuki, T.

Nine lymphoblastoid cell lines were established after transformation by Epstein-Barr virus of peripheral lymphocytes from four xeroderma pigmentosum (XP) patients, the parents of one XP patient, and three normal donors. All these cell lines proliferate as suspension in Roswell Park Memorial Institute Medium 1640 supplemented with 20% fetal bovine serum, without detectable release of infectious Epstein-Barr virus. Some characteristics of these cell lines, such as growth rates, chromosome numbers, uv sensitivities, and activities of unscheduled DNA syntheses induced by uv, 4-nitroquinoline 1-oxide, and N-methyl-N'-nitro-N-nitrosoguanidine, were determined. Results confirm that the properties related to XP are not altered by transformation withmore » Epstein-Barr virus and are the same in degrees of defect as are those of dermal fibroblasts from the respective individuals. These XP and normal lymphoblastoid cell lines should be especially useful for biochemical studies on the mechanism of DNA repair, because they are easy to grow in mass culture.« less

Genetic Analysis of a Kindred With X-linked Mental Handicap and Retinitis Pigmentosa

PubMed Central

Aldred, M. A.; Dry, K. L.; Knight-Jones, E. B.; Hardwick, L. J.; Teague, P. W.; Lester, D. H.; Brown, J.; Spowart, G.; Carothers, A. D.; Raeburn, J. A.; Bird, A. C.; Fielder, A. R.; Wright, A. F.

1994-01-01

A kindred is described in which X-linked nonspecific mental handicap segregates together with retinitis pigmentosa. Carrier females are mentally normal but may show signs of the X-linked retinitis pigmentosa carrier state and become symptomatic in their later years. Analysis of polymorphic DNA markers at nine loci on the short arm of the X chromosome shows that no crossing-over occurs between the disease and Xp11 markers DXS255, TIMP, DXS426, MAOA, and DXS228. The 90% confidence limits show that the locus is in the Xp21-q21 region. Haplotype analysis is consistent with the causal gene being located proximal to the Xp21 loci DXS538 and 5'-dystrophin on the short arm of the X chromosome. The posterior probability of linkage to the RP2 region of the X chromosome short arm (Xp11.4-p11.23) is .727, suggesting the possibility of a contiguous-gene-deletion syndrome. No cytogenetic abnormality has been identified. PMID:7977353

Establishment of an ASPL-TFE3 renal cell carcinoma cell line (S-TFE).

PubMed

Hirobe, Megumi; Masumori, Naoya; Tanaka, Toshiaki; Kitamura, Hiroshi; Tsukamoto, Taiji

2013-06-01

Xp11 translocation renal cell carcinoma is a rare disease diagnosed in children and adolescents in the advanced stage with an aggressive clinical course. Various gene fusions including the transcription factor E3 (TFE3) gene located on chromosome X cause the tumor. We established an Xp11 translocation renal cell carcinoma cell line from a renal tumor in a 18-y-old Japanese female and named it "S-TFE." The cell line and its xenograft demonstrated definite gene fusion including TFE3. They showed strong nuclear staining for TFE3 in immunohistochemistry, TFE3 gene rearrangement in dual-color, break-apart FISH analysis and ASPL-TFE3 type 1 fusion transcripts detected by RT-PCR and direct DNA sequencing. Although many renal cell carcinoma cell lines have been established and investigated, only a few cell lines are recognized as Xp11.2 translocation carcinoma. S-TFE will be useful to examine the characteristics and drug susceptibility of Xp11 translocation renal cell carcinoma.

Establishment of an ASPL-TFE3 renal cell carcinoma cell line (S-TFE)

PubMed Central

Hirobe, Megumi; Masumori, Naoya; Tanaka, Toshiaki; Kitamura, Hiroshi; Tsukamoto, Taiji

2013-01-01

Xp11 translocation renal cell carcinoma is a rare disease diagnosed in children and adolescents in the advanced stage with an aggressive clinical course. Various gene fusions including the transcription factor E3 (TFE3) gene located on chromosome X cause the tumor. We established an Xp11 translocation renal cell carcinoma cell line from a renal tumor in a 18-y-old Japanese female and named it “S-TFE.” The cell line and its xenograft demonstrated definite gene fusion including TFE3. They showed strong nuclear staining for TFE3 in immunohistochemistry, TFE3 gene rearrangement in dual-color, break-apart FISH analysis and ASPL-TFE3 type 1 fusion transcripts detected by RT-PCR and direct DNA sequencing. Although many renal cell carcinoma cell lines have been established and investigated, only a few cell lines are recognized as Xp11.2 translocation carcinoma. S-TFE will be useful to examine the characteristics and drug susceptibility of Xp11 translocation renal cell carcinoma. PMID:23760492

Long-term survival in a patient with node-positive adult-onset Xp11.2 translocation renal cell carcinoma.

PubMed

Aoyagi, Toshiki; Shinohara, Nobuo; Kubota-Chikai, Kanako; Kuroda, Naoto; Nonomura, Katsuya

2011-01-01

Adult-onset Xp11.2 translocation renal cell carcinoma is a rare malignancy that has an aggressive clinical course and poor prognosis. The reasons for this include the fact that most patients have an advanced clinical stage at diagnosis and also that there is a lack of effective systemic therapy. We herein present the case of a 32-year-old woman suffering from node-positive Xp11.2 translocation renal cell carcinoma who underwent radical nephrectomy with an extensive retroperitoneal lymph node dissection, followed by two times of surgical resection for recurrent nodal disease. The patient has experienced no recurrent disease 4.5 years after the last operation and remains free of disease. Surgical approach to recurrent disease, if the recurrent site can be judged to be limited, might be one of the feasible treatment options in patients with Xp11.2 translocation renal cell carcinoma. Copyright © 2011 S. Karger AG, Basel.

Xeroderma Pigmentosum: Man Deprived of His Right to Light

PubMed Central

Mareddy, Subhash; Reddy, Jithendra; Babu, Subhas; Balan, Preethi

2013-01-01

Xeroderma pigmentosum (XP) is a hereditary autosomal recessive disorder characterized by photo hypersensitivity of sun exposed tissues and subsequent several-fold increased risk for malignant changes resulting from impaired ability to repair UV-induced DNA damage. Estimated incidences vary from 1 in 20,000 in Japan to 1 in 250,000 in the USA, and approximately 2.3 per million live births in Western Europe. Diagnosis is made clinically by the presence of unusual sunburns or lentiginosis or onset of cancers at an early age. It is confirmed by cellular tests for defective DNA repair. Although there is no cure for XP as of now, skin problems can be ameliorated with the use of sunscreens, sun avoidance methods, and recurrent tumor excisions. Oral isotretinoin and topical application of 5-fluorouracil to treat actinic keratoses are other therapeutic options. T4N5 and photolyase liposomal lotions are innovations in the therapy of XP. Genetic counselling implicating the effect of consanguineous marriages should be considered in the management of XP patients. PMID:24459435

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F

PubMed Central

Shanbhag, Niraj M.; Geschwind, Michael D.; DiGiovanna, John J.; Groden, Catherine; Godfrey, Rena; Yousefzadeh, Matthew J.; Wade, Erin A.; Niedernhofer, Laura J.; Malicdan, May Christine V.; Kraemer, Kenneth H.; Gahl, William A.

2018-01-01

Objective To describe the features of 2 unrelated adults with xeroderma pigmentosum complementation group F (XP-F) ascertained in a neurology care setting. Methods We report the clinical, imaging, molecular, and nucleotide excision repair (NER) capacity of 2 middle-aged women with progressive neurodegeneration ultimately diagnosed with XP-F. Results Both patients presented with adult-onset progressive neurologic deterioration involving chorea, ataxia, hearing loss, cognitive deficits, profound brain atrophy, and a history of skin photosensitivity, skin freckling, and/or skin neoplasms. We identified compound heterozygous pathogenic mutations in ERCC4 and confirmed deficient NER capacity in skin fibroblasts from both patients. Conclusions These cases illustrate the role of NER dysfunction in neurodegeneration and how adult-onset neurodegeneration could be the major symptom bringing XP-F patients to clinical attention. XP-F should be considered by neurologists in the differential diagnosis of patients with adult-onset progressive neurodegeneration accompanied by global brain atrophy and a history of heightened sun sensitivity, excessive freckling, and skin malignancies. PMID:29892709

Prenatal diagnosis of xeroderma pigmentosum group A in Japan.

PubMed

Moriwaki, Shinichi; Yamashita, Yoshiki; Nakamura, Sachiko; Fujita, Daisuke; Kohyama, Jun; Takigawa, Masahiro; Ohmichi, Masahide

2012-06-01

We performed a prenatal diagnosis for 10 fetuses from nine unrelated Japanese xeroderma pigmentosum complementation group A (XP-A) families. All parents had at least one XP-A child (proband) with a homozygous founder mutation (IVS3-1G>C) in the XPA gene. A genetic analysis was performed by a restriction enzyme; AlwNI fragment length polymorphism of polymerase chain reaction (PCR)-amplified DNA, mostly from amniotic fluid (AF) and cultured cells established from AF. However, for the first family, we tried amniocentesis as well as chorionic villus sampling (CVS). Among the 10 cases, we confirmed the results of PCR-based genetic diagnosis by post-ultraviolet survival of amniotic cells in eight cases. Unfortunately, 6 weeks after CVS and 4 days after the amniocentesis in the first case we examined, the fetus died in utero, the reason for which remains unexplained. We prenatally determined two XP-A cases, six XP-A carriers and two wild-type fetuses, which appears to be consistent with Mendel's law. © 2011 Japanese Dermatological Association.

Force Tests of a 1/5-Scale Model of the McDonnell XP-85 Airplane with Conventional Tail Assembly in the Langley Free-Flight Tunnel

NASA Technical Reports Server (NTRS)

Paulson, John W.; Johnson, Joseph L.

1947-01-01

At the request of the Air Materiel Command, Army Air Forces an investigation of the low-speed, power-off stability and control characteristics of the McDonnell XP-85 airplane is being conducted in the Langley free-flight tunnel. The XP-85 airplane is a parasite fighter carried in a bomb bay of the B-36 airplane. As a part of the investigation a few force tests were made of a 1/5 scale model of the XP-85 with a conventional tail assembly installed in place of the original design five-unit tail assembly. The total area of the conventional assembly was approximately 80 percent of the area of the five-unit assembly. The results of this investigation showed that the conventional tail assembly gave about the same longitudinal stability characteristics as the original configuration and improved the directional and lateral stability.

VISUAL PLUMES CONCEPTS TO POTENTIALLY ADAPT OR ADOPT IN MODELING PLATFORMS SUCH AS VISJET

EPA Science Inventory

Windows-based programs share many familiar features and components. For example, file dialogue windows are familiar to most Windows-based personal computer users. Such program elements are desirable because the user is already familiar with how they function, obviating the need f...

High-speed Photometric Analysis for Minor Planets 1586 Thiele, 4246 Telemann, (10662) 32-1 T-2, and (49880) 1999 XP 135

NASA Astrophysics Data System (ADS)

Childers, Daniel; Church, Alyssia

2007-12-01

Photometric observations of 1586 Thiele, 4246 Telemann, (10662) 3201 T-2, and (49880) 1999 XP135 were performed in September and October of 2005. The periods and amplitudes found were: 1586 Thiele 3.086 ± 0.038 h, 0.136 ± 0.011 mag; 4246 Telemann 8.960 ± 0.038 h, 0.109 ± 0.027 mag; (10662) 3201 T-2, 3.072 ± 0.038 h, 0.151 ± 0.04 mag; and (49880) 1999 XP135, 11.111 ± 0.038 h, 0.102 ± 0.035 mag.

Can HN[double bond, length as m-dash]NH, FN[double bond, length as m-dash]NH, or HN[double bond, length as m-dash]CHOH bridge the σ-hole and the lone pair at P in binary complexes with H2XP, for X = F, Cl, NC, OH, CN, CCH, CH3, and H?

PubMed

Del Bene, Janet E; Alkorta, Ibon; Elguero, José

2015-11-11

Ab initio MP2/aug'-cc-pVTZ calculations have been carried out to investigate the properties of complexes formed between H2XP, for X = F, Cl, NC, OH, CN, CCH, CH3, and H, and the possible bridging molecules HN[double bond, length as m-dash]NH, FN[double bond, length as m-dash]NH, and HN[double bond, length as m-dash]CHOH. H2XP:HNNH and H2XP:FNNH complexes are stabilized by PN pnicogen bonds, except for H2(CH3)P:FNNH and H3P:FNNH which are stabilized by N-HP hydrogen bonds. H2XP:HNCHOH complexes are stabilized by PN pnicogen bonds and nonlinear O-HP hydrogen bonds. For a fixed H2XP molecule, binding energies decrease in the order HNCHOH > HNNH > FNNH, except for the binding energies of H2(CH3)P and H3P with HNNH and FNNH. Binding energies of complexes with HNCHOH and HNNH increase as the P-N1 distance decreases, but binding energies of complexes with FNNH show little dependence on this distance. The large binding energies of H2XP:HNCHOH complexes arise from a cooperative effect involving electron-pair acceptance by P to form a pnicogen bond, and electron-pair donation by P to form a hydrogen bond. The dominant charge-transfer interaction in these complexes involves electron-pair donation by N across the pnicogen bond, except for complexes in which X is one of the more electropositive substituents, CCH, CH3, and H. For these, lone-pair donation by P across the hydrogen bond dominates. AIM and NBO data for these complexes are consistent with their bonding characteristics, showing molecular graphs with bond critical points and charge-transfer interactions associated with hydrogen and pnicogen bonds. EOM-CCSD spin-spin coupling constants (1p)J(P-N) across the pnicogen bond for each series of complexes correlate with the P-N distance. In contrast, (2h)J(O-P) values for complexes H2XP:HNCHOH do not correlate with the O-P distance, a consequence of the nonlinearity of these hydrogen bonds.

Software structure for Vega/Chara instrument

NASA Astrophysics Data System (ADS)

Clausse, J.-M.

2008-07-01

VEGA (Visible spEctroGraph and polArimeter) is one of the focal instruments of the CHARA array at Mount Wilson near Los Angeles. Its control system is based on techniques developed on the GI2T interferometer (Grand Interferometre a 2 Telescopes) and on the SIRIUS fibered hyper telescope testbed at OCA (Observatoire de la Cote d'Azur). This article describes the software and electronics architecture of the instrument. It is based on local network architecture and uses also Virtual Private Network connections. The server part is based on Windows XP (VC++). The control software is on Linux (C, GTK). For the control of the science detector and the fringe tracking systems, distributed API use real-time techniques. The control software gathers all the necessary informations of the instrument. It allows an automatic management of the instrument by using an original task scheduler. This architecture intends to drive the instrument from remote sites, such as our institute in South of France.

Stepwise detection of recombination breakpoints in sequence alignments.

PubMed

Graham, Jinko; McNeney, Brad; Seillier-Moiseiwitsch, Françoise

2005-03-01

We propose a stepwise approach to identify recombination breakpoints in a sequence alignment. The approach can be applied to any recombination detection method that uses a permutation test and provides estimates of breakpoints. We illustrate the approach by analyses of a simulated dataset and alignments of real data from HIV-1 and human chromosome 7. The presented simulation results compare the statistical properties of one-step and two-step procedures. More breakpoints are found with a two-step procedure than with a single application of a given method, particularly for higher recombination rates. At higher recombination rates, the additional breakpoints were located at the cost of only a slight increase in the number of falsely declared breakpoints. However, a large proportion of breakpoints still go undetected. A makefile and C source code for phylogenetic profiling and the maximum chi2 method, tested with the gcc compiler on Linux and WindowsXP, are available at http://stat-db.stat.sfu.ca/stepwise/ jgraham@stat.sfu.ca.

The design of 1-wire net meteorological observatory for 2.4 m telescope

NASA Astrophysics Data System (ADS)

Zhu, Gao-Feng; Wei, Ka-Ning; Fan, Yu-Feng; Xu, Jun; Qin, Wei

2005-03-01

The weather is an important factor to affect astronomical observations. The 2.4 m telescope can not work in Robotic Mode without the weather data input. Therefore it is necessary to build a meteorological observatory near the 2.4 m telescope. In this article, the design of the 1-wire net meteorological observatory, which includes hardware and software systems, is introduced. The hardware system is made up of some kinds of sensors and ADC. A suited power station system is also designed. The software system is based on Windows XP operating system and MySQL data management system, and a prototype system of browse/server model is developed by JAVA and JSP. After being tested, the meteorological observatory can register the immediate data of weather, such as raining, snowing, and wind speed. At last, the data will be stored for feature use. The product and the design can work well for the 2.4 m telescope.

[Establishment and management of electronic appointment library for dental implant patients].

PubMed

Dong, Zheng-jie; Xu, Kan

2013-10-01

To design an excel form which can prompt dental implant patient appointment through color change, which can scientifically manage implant EMR library through appropriate interlinkage and number. An excel form based on operating system Windows XP was designed and software 2003 Microsoft excel was used, which was configured to change color with the passage of time by the use of command "conditional format". An excel form was designed. The color turned to red automatically on the day the patient underwent implant surgery. It turned to yellow when the patient recalled 2 weeks after the first operation, to green when the patient underwent secondary operation. It was designed to be gray when all the procedures of implant restoration was finished. In addition, we could know patients' main implant situation through directly opening his EMR when clicking on his name or number. Dentists can remind the implant patient appointment schedule through color change of an excel form, and can consult the implant patient EMR directly through interlinkage or number.

Gabor filter based fingerprint image enhancement

NASA Astrophysics Data System (ADS)

Wang, Jin-Xiang

2013-03-01

Fingerprint recognition technology has become the most reliable biometric technology due to its uniqueness and invariance, which has been most convenient and most reliable technique for personal authentication. The development of Automated Fingerprint Identification System is an urgent need for modern information security. Meanwhile, fingerprint preprocessing algorithm of fingerprint recognition technology has played an important part in Automatic Fingerprint Identification System. This article introduces the general steps in the fingerprint recognition technology, namely the image input, preprocessing, feature recognition, and fingerprint image enhancement. As the key to fingerprint identification technology, fingerprint image enhancement affects the accuracy of the system. It focuses on the characteristics of the fingerprint image, Gabor filters algorithm for fingerprint image enhancement, the theoretical basis of Gabor filters, and demonstration of the filter. The enhancement algorithm for fingerprint image is in the windows XP platform with matlab.65 as a development tool for the demonstration. The result shows that the Gabor filter is effective in fingerprint image enhancement technology.

Ultrasonographic Findings of Renal Cell Carcinomas Associated with Xp11.2 Translocation/TFE3 Gene Fusion.

PubMed

Ling, Wenwu; Ma, Xuelei; Luo, Yan; Chen, Linyan; Wang, Huiyao; Wang, Xiaoling; Chen, Ni; Zeng, Hao; Li, Yongzhong; Cai, Diming

2017-01-01

This study was to investigate the features of renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions (Xp11.2-RCC) on conventional ultrasound (US) and contrast-enhanced ultrasound (CEUS). US and CEUS features of twenty-two cases with histopathologically proven Xp11.2-RCC were retrospectively reviewed. 22 patients (11 males, 11 females) were included in this study, with a mean age of 28.3 ± 20.4 years. Eight tumors (36.3%, 8/22) were in left kidney, and 14 tumors (63.7%, 14/22) were in right kidney. All tumors (100%, 22/22) were mixed echogenicity type. 13 tumors (59.1%, 13/22) presented small dotted calcifications. The boundary of 14 tumors (63.6%, 14/22) was sharp and the other 8 tumors' (36.4%, 8/22) boundary was blurry. By CEUS, in early phase, the solid element of all tumors showed obvious enhancement. In delayed phase, 13 tumors showed hypoenhancement, seven tumors showed isoenhancement, and 2 tumors showed hyperenhancement. There were irregular nonenhancement areas in all tumors inside. By US and CEUS, when children and adolescents were found to have hyperechoic mixed tumor in kidney with sharp margin and calcification, and the tumors showed obvious enhancement and hypoenhancement with irregular nonenhancement areas in the tumor in early phase and delayed phase, respectively, Xp11.2-RCC should be suspected.

Renal carcinomas associated with Xp11.2 translocations: are CT findings suggestive of the diagnosis?

PubMed

He, J; Huan, Y; Qiao, Q; Zhang, J; Zhang, J S

2014-01-01

The purpose of the present study was to summarize the computed tomography (CT) features of renal carcinomas associated with Xp11.2 translocations, and determine whether the diagnosis can be reliably deduced from imaging findings. Radiological studies of six patients (aged from 9-29 years) with renal carcinoma associated with Xp11.2 translocations were retrospectively analysed. The tumours varied in size from 3.3-11 cm (mean 5.4 cm). Unenhanced CT and cortical, medullary, and pelvic-phase contrast-enhanced CT imaging was undertaken in all cases. Unenhanced CT revealed that tumours had a relatively increased radiodensity (4/6, ranged from 45-60 HU) and suggested the possibility of diffuse haemorrhage. Three of the six cases showed irregular and boundary calcification of the lesion. Contrast-enhanced CT showed relatively well demarcated tumours with heterogeneous enhancement (6/6). Prolonged enhancement of tumours might be a common sign (6/6) in Xp11.2 translocations. Three out of the six cases were combined with retroperitoneal lymph nodes metastasis. Renal carcinomas associated with Xp11.2 translocations should be considered, particularly in children and young patients, when the lesion has calcification and is hyper-dense on unenhanced CT, and has prolonged enhancement on contrast-enhanced images. Copyright © 2013 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.

PubMed

Singh, Amita; Compe, Emanuel; Le May, Nicolas; Egly, Jean-Marc

2015-02-05

Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the transcription and DNA-repair factor TFIIH lead to three autosomal-recessive disorders: xeroderma pigmentosum (XP), XP associated with Cockayne syndrome (XP/CS), and trichothiodystrophy (TTD). Although these diseases were originally associated with defects in DNA repair, transcription deficiencies might be also implicated. By using retinoic acid receptor beta isoform 2 (RARB2) as a model in several cells bearing mutations in genes encoding TFIIH subunits, we observed that (1) the recruitment of the TFIIH complex was altered at the activated RARB2 promoter, (2) TFIIH participated in the recruitment of nucleotide excision repair (NER) factors during transcription in a manner different from that observed during NER, and (3) the different TFIIH variants disturbed transcription by having distinct consequences on post-translational modifications of histones, DNA-break induction, DNA demethylation, and gene-loop formation. The transition from heterochromatin to euchromatin was disrupted depending on the variant, illustrating the fact that TFIIH, by contributing to NER factor recruitment, orchestrates chromatin remodeling. The subtle transcriptional differences found between various TFIIH variants thus participate in the phenotypic variability observed among XP, XP/CS, and TTD individuals. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Report: Passaic Valley Sewerage Commissioners – Unallowable Costs Claimed Under EPA Grant XP98237601

EPA Pesticide Factsheets

Report #08-2-0226, August 6, 2008. The grantee claimed $2,385,634 for pre-award costs under Grant XP98237601 that were incurred prior to the grant award and thus were unallowable under the grant administrative conditions and OMB Circular A-87.

SR450 and Superhawk XP applications of Bacillus thuringiensis israelensis de Barjac against Culex quinquefasciatus Say

USDA-ARS?s Scientific Manuscript database

Sprayer comparisons and larval morality assays were conducted following SR450 backpack mist blower and Superhawk XP thermal fogger applications of Vectobac® WDG Bacillus thuringiensis israelensis (Bti) de Barjac against Culex quinquefasciatus Say. Bacillus thuringiensis israelensis was applied at m...

Context Switching with Multiple Register Windows: A RISC Performance Study

NASA Technical Reports Server (NTRS)

Konsek, Marion B.; Reed, Daniel A.; Watcharawittayakul, Wittaya

1987-01-01

Although previous studies have shown that a large file of overlapping register windows can greatly reduce procedure call/return overhead, the effects of register windows in a multiprogramming environment are poorly understood. This paper investigates the performance of multiprogrammed, reduced instruction set computers (RISCs) as a function of window management strategy. Using an analytic model that reflects context switch and procedure call overheads, we analyze the performance of simple, linearly self-recursive programs. For more complex programs, we present the results of a simulation study. These studies show that a simple strategy that saves all windows prior to a context switch, but restores only a single window following a context switch, performs near optimally.

Xiaotan Tongfu granules contribute to the prevention of stress ulcers

PubMed Central

Yan, Bing; Shi, Jun; Xiu, Li-Juan; Liu, Xuan; Zhou, Yu-Qi; Feng, Shou-Han; Lv, Can; Yuan, Xiu-Xia; Zhang, Yin-Cheng; Li, Yong-Jin; Wei, Pin-Kang; Qin, Zhi-Feng

2013-01-01

AIM: To investigate the efficacy and potential mechanism of Xiaotan Tongfu granules (XTTF) in stress ulcers. METHODS: One hundred sixty rats were randomly divided into 4 groups (n = 10) as follows: the model group (MP group), the control group (CP group), the ranitidine group (RP group) and the XTTF granule group (XP group). Rats in the MP group received no drugs, rats in the CP group received 0.2 mL of a 0.9% sodium chloride solution via oral gavage, and rats in the RP and XP groups received the same volume of ranitidine (50 mg/kg) or XTTF granule (4.9 g/kg). The cold-restraint stress model was applied to induce stress ulcers after 7 consecutive days of drug administration. Afterwards, rats were sacrificed at 0, 3, 6 and 24 h. Gastric pH was measured by a precise pH meter; gastric emptying rate (GER) was measured by using a methylcellulose test meal; myeloperoxidase activity (MPO), macrophage migration inhibitory factor (MIF), proliferating cell nuclear antigen (PCNA), and heat shock protein 70 (HSP70) were measured by immunohistochemical staining; and mucosal cell apoptosis was measured by transferase dUTP nick end labeling. RESULTS: In the cold-restraint stress model, the development of stress ulcers peaked at 3 h and basically regressed after 24 h. Gastric lesions were significantly different in the RP and XP groups at each time point. Interestingly, although this index was much lower in the RP group than in the XP group immediately following stress induction (7.00 ± 1.10 vs 10.00 ± 1.79, P < 0.05. Concerning gastric pH, between the RP and XP groups, we detected a statistically significant difference immediately after stress induction (0 h: 4.56 ± 0.47 vs 3.34 ± 0.28, P < 0.05) but not at any of the subsequent time points. For GER, compared to the RP group, GER was remarkably elevated in the XP group because a statistically significant difference was detected (3 h: 46.84 ± 2.70 vs 61.16 ± 5.12, P < 0.05; 6 h: 60.96 ± 6.71 vs 73.41 ± 6.16, P < 0.05; 24 h: 77.47 ± 3.17 vs 91.31 ± 4.34, P < 0.05). With respect to MPO and MIF, comparisons between the RP and XP groups revealed statistically significant differences at 3 h (MPO: 18.94 ± 1.20 vs 13.51 ± 0.89, P < 0.05; MIF: 150.67 ± 9.85 vs 122.17 ± 5.67, P < 0.05) and 6 h (MPO: 13.22 ± 1.54 vs 8.83 ± 0.65, P < 0.05; MIF: 135.50 ± 9.46 vs 109.83 ± 6.40, P < 0.05). With regard to HSP70, HSP70 expression was significantly increased in the RP and XP groups at 3 and 6 h compared to the MP and CP groups. In addition, comparing the RP and XP groups also showed statistically significant differences at 3 and 6 h. The expression of PCNA was higher in the RP and XP groups 3 h after stress induction. Between these two groups, small but statistically significant differences were observed at all of the time points (3 h: 69.50 ± 21.52 vs 79.33 ± 15.68, P < 0.05; 6 h: 107.83 ± 4.40 vs 121.33 ± 5.71, P < 0.05; 24 h: 125.33 ± 5.65 vs 128.50 ± 14.49, P < 0.05) except 0 h. With regard to apoptosis, the apoptotic activity in the RP and XP groups was significantly different from that in the MP and CP groups. The XP group exhibited a higher inhibition of cell apoptosis than the RP group at 3 h (232.58 ± 24.51 vs 174.46 ± 10.35, P < 0.05) and 6 h (164.74 ± 18.31 vs 117.71 ± 12.08, P < 0.05). CONCLUSION: The Xiaotan Tongfu granule was demonstrated to be similar to ranitidine in preventing stress ulcers. It exhibited multiple underlying mechanisms and deserves further study. PMID:24023490

PHREEQCI; a graphical user interface for the geochemical computer program PHREEQC

USGS Publications Warehouse

Charlton, Scott R.; Macklin, Clifford L.; Parkhurst, David L.

1997-01-01

PhreeqcI is a Windows-based graphical user interface for the geochemical computer program PHREEQC. PhreeqcI provides the capability to generate and edit input data files, run simulations, and view text files containing simulation results, all within the framework of a single interface. PHREEQC is a multipurpose geochemical program that can perform speciation, inverse, reaction-path, and 1D advective reaction-transport modeling. Interactive access to all of the capabilities of PHREEQC is available with PhreeqcI. The interface is written in Visual Basic and will run on personal computers under the Windows(3.1), Windows95, and WindowsNT operating systems.

Extreme Programming in a Research Environment

NASA Technical Reports Server (NTRS)

Wood, William A.; Kleb, William L.

2002-01-01

This article explores the applicability of Extreme Programming in a scientific research context. The cultural environment at a government research center differs from the customer-centric business view. The chief theoretical difficulty lies in defining the customer to developer relationship. Specifically, can Extreme Programming be utilized when the developer and customer are the same person? Eight of Extreme Programming's 12 practices are perceived to be incompatible with the existing research culture. Further, six of the nine 'environments that I know don't do well with XP' apply. A pilot project explores the use of Extreme Programming in scientific research. The applicability issues are addressed and it is concluded that Extreme Programming can function successfully in situations for which it appears to be ill-suited. A strong discipline for mentally separating the customer and developer roles is found to be key for applying Extreme Programming in a field that lacks a clear distinction between the customer and the developer.

A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter).

PubMed

Armour, Christine M; McGowan-Jordan, Jean; Lawrence, Sarah E; Bouchard, Amélie; Basik, Mark; Allanson, Judith E

2008-01-01

We report on a girl with partial deletion of Xp and partial duplication of 22q. Family studies demonstrate that both the patient's mother and her nonidentical twin sister carry the corresponding balanced translocation; 46,X,t(X;22)(p11.4;q11.2). This girl has developmental delay, microcephaly, mild dysmorphisms and hearing loss but otherwise shows few of the features described in individuals with duplications of the long arm of chromosome 22. She does manifest characteristics, such as short stature and biochemical evidence of ovarian failure, which are seen in partial or complete Xp deletions and Turner's syndrome.

Rectangular microstrip antenna with corrugation like defects at radiating edge: A new approach to reduce cross polarization radiation

NASA Astrophysics Data System (ADS)

Pawar, U. A.; Mondal, D.; Nagaraju, A.; Chakraborty, S.; Singh, L. L. K.; Chattopadhyay, S.

2018-03-01

In this paper, single layer, simple and compact RMA, with corrugation like defects at the radiating edge, is studied thoroughly to reduce XP radiation from the patch. Unlike the earlier works reported on defected ground structure integrated patches and defect patch structures, in this work, corrugation like linear defects have been placed at the radiating edges of the patch to reduce cross polarisation radiation. Around 30-40 dB of CP-XP isolation is observed in H-plane with 7% impedance bandwidth and in E-plane also, more than 55 dB CP-XP isolation is found. The proposed structure is very simple to design and easy to fabricate.

WINDOWS: a program for the analysis of spectral data foil activation measurements

DOE Office of Scientific and Technical Information (OSTI.GOV)

Stallmann, F.W.; Eastham, J.F.; Kam, F.B.K.

The computer program WINDOWS together with its subroutines is described for the analysis of neutron spectral data foil activation measurements. In particular, the unfolding of the neutron differential spectrum, estimated windows and detector contributions, upper and lower bounds for an integral response, and group fluxes obtained from neutron transport calculations. 116 references. (JFP)

Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa

DOE Office of Scientific and Technical Information (OSTI.GOV)

Aldred, M.A.; Dry, K.L.; Hardwick, L.J.

1994-11-01

A kindred is described in which X-linked nonspecific mental handicap segregates together with retinitis pigmentosa. Carrier females are mentally normal but may show signs of the X-linked retinitis pigmentosa carrier state and become symptomatic in their later years. Analysis of polymorphic DNA markers at nine loci on the short arm of the X chromosome shows that no crossing-over occurs between the disease and Xp11 markers DXS255, TIMP, DXS426, MAOA, and DXS228. The 90% confidence limits show that the locus is in the Xp21-q21 region. Haplotype analysis is consistent with the causal gene being located proximal to the Xp21 loci DXS538more » and 5{prime}-dystrophin on the short arm of the X chromosome. The posterior probability of linkage to the RP2 region of the X chromosome short arm (Xp11.4-p11.23) is .727, suggesting the possibility of a contiguous-gene-deletion syndrome. No cytogenetic abnormality has been identified. 33 refs., 2 figs., 2 tabs.« less

Structural and magnetic phase transitions near optimal superconductivity in BaFe 2(As 1-xP x) 2

DOE PAGES

Hu, Ding; Lu, Xingye; Zhang, Wenliang; ...

2015-04-17

In this study, we use nuclear magnetic resonance (NMR), high-resolution x-ray and neutron scattering to study structural and magnetic phase transitions in phosphorus-doped BaFe 2(As 1-xP x) 2. Thus, previous transport, NMR, specific heat, and magnetic penetration depth measurements have provided compelling evidence for the presence of a quantum critical point (QCP) near optimal superconductivity at x = 0.3. However, we show that the tetragonal-to-orthorhombic structural (T s) and paramagnetic to antiferromagnetic (AF, T N) transitions in BaFe 2(As 1-xP x) 2 are always coupled and approach to T N ≈ T s ≥ T c (≈ 29 K) formore » x = 0.29 before vanishing abruptly for x ≥ 0.3. These results suggest that AF order in BaFe 2(As 1-xP x) 2 disappears in a weakly first order fashion near optimal superconductivity, much like the electron-doped iron pnictides with an avoided QCP.« less

Temsirolimus in the treatment of renal cell carcinoma associated with Xp11.2 translocation/TFE gene fusion proteins: a case report and review of literature.

PubMed

Parikh, Jigarkumar; Coleman, Teresa; Messias, Nidia; Brown, James

2009-12-28

Xp11.2 translocation renal cell carcinomas (TRCCs) are a rare family of tumors newly recognized by the World Health Organization (WHO) in 2004. These tumors result in the fusion of partner genes to the TFE3 gene located on Xp11.2. They are most common in the pediatric population, but have been recently implicated in adult renal cell carcinoma (RCC) presenting at an early age. TFE3-mediated direct transcriptional upregulation of the Met tyrosine kinase receptor triggers dramatic activation of downstream signaling pathways including the protein kinase B (Akt)/phosphatidylinositol-3 kinase (PI3K) and mammalian target of rapamycin (mTOR) pathways. Temsirolimus is an inhibitor of mammalian target of rapamycin (mTOR) kinase, a component of intracellular signaling pathways involved in the growth and proliferation of malignant cells. Here we present a case of a 22-year old female who has been treated with temsirolimus for her Xp11.2/TFE3 gene fusion RCC.

Temsirolimus in the treatment of renal cell carcinoma associated with Xp11.2 translocation/TFE gene fusion proteins: a case report and review of literature

PubMed Central

Parikh, Jigarkumar; Coleman, Teresa; Messias, Nidia; Brown, James

2009-01-01

Xp11.2 translocation renal cell carcinomas (TRCCs) are a rare family of tumors newly recognized by the World Health Organization (WHO) in 2004. These tumors result in the fusion of partner genes to the TFE3 gene located on Xp11.2. They are most common in the pediatric population, but have been recently implicated in adult renal cell carcinoma (RCC) presenting at an early age. TFE3-mediated direct transcriptional upregulation of the Met tyrosine kinase receptor triggers dramatic activation of downstream signaling pathways including the protein kinase B (Akt)/phosphatidylinositol-3 kinase (PI3K) and mammalian target of rapamycin (mTOR) pathways. Temsirolimus is an inhibitor of mammalian target of rapamycin (mTOR) kinase, a component of intracellular signaling pathways involved in the growth and proliferation of malignant cells. Here we present a case of a 22-year old female who has been treated with temsirolimus for her Xp11.2/TFE3 gene fusion RCC. PMID:21139932

Analysis of Extreme Phenotype Bulk Copy Number Variation (XP-CNV) Identified the Association of rp1 with Resistance to Goss's Wilt of Maize.

PubMed

Hu, Ying; Ren, Jie; Peng, Zhao; Umana, Arnoldo A; Le, Ha; Danilova, Tatiana; Fu, Junjie; Wang, Haiyan; Robertson, Alison; Hulbert, Scot H; White, Frank F; Liu, Sanzhen

2018-01-01

Goss's wilt (GW) of maize is caused by the Gram-positive bacterium Clavibacter michiganensis subsp. nebraskensis (Cmn) and has spread in recent years throughout the Great Plains, posing a threat to production. The genetic basis of plant resistance is unknown. Here, a simple method for quantifying disease symptoms was developed and used to select cohorts of highly resistant and highly susceptible lines known as extreme phenotypes (XP). Copy number variation (CNV) analyses using whole genome sequences of bulked XP revealed 141 genes containing CNV between the two XP groups. The CNV genes include the previously identified common rust resistant locus rp1 . Multiple Rp1 accessions with distinct rp1 haplotypes in an otherwise susceptible accession exhibited hypersensitive responses upon inoculation. GW provides an excellent system for the genetic dissection of diseases caused by closely related subspecies of C. michiganesis . Further work will facilitate breeding strategies to control GW and provide needed insight into the resistance mechanism of important related diseases such as bacterial canker of tomato and bacterial ring rot of potato.

Continuous Wave Potassium Titanyl Phosphate Laser Treatment is Safe and Effective for Xanthelasma Palpebrarum.

PubMed

Greijmans, Ellen; Luiting-Welkenhuyzen, Hedwig; Luijks, Harriet; Bovenschen, H Jorn

2016-07-01

Although not an accepted standard treatment, the 532-nm continuous wave potassium titanyl phosphate (CW-KTP) laser might be a powerful device to treat xanthelasma palpebrarum (XP). To determine the safety and efficacy of CW-KTP laser treatment for XP. Between January 2013 and January 2015, 30 consecutive patients with XP were treated with a 532-nm CW-KTP laser (spot size: 0.9 mm, power: 5.0 W, fluence: 36-38 J/cm, pulse width: 46 milliseconds, frequency: 2.0 Hz, passes per session: 3). In a retrospective study design, safety and efficacy data were collected and analyzed. Overall, 29/30 (97%) of patients had an excellent cosmetical result. Downtime was 1 week with crusted lesions. Although slight hypopigmentation was common, only 1/30 (3%) patients had hypopigmentation that was more than expected. Recurrences (13/30; 43%) were frequent, so that yearly maintenance therapy was warranted. No major side effects were noticed. Continuous wave KTP laser therapy is safe and highly effective for XP, although regular follow-up treatments are often necessary to maintain the achieved cosmetic results.

A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).

PubMed

Limsirichaikul, Siripan; Niimi, Atsuko; Fawcett, Heather; Lehmann, Alan; Yamashita, Shunichi; Ogi, Tomoo

2009-03-01

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder. Afflicted patients show extreme sun-sensitivity and skin cancer predisposition. XP is in most cases associated with deficient nucleotide excision repair (NER), which is the process responsible for removing photolesions from DNA. Measuring NER activity by nucleotide incorporation into repair patches, termed 'unscheduled DNA synthesis (UDS)', is one of the most commonly used assays for XP-diagnosis and NER research. We have established a rapid and accurate procedure for measuring UDS by replacement of thymidine with 5-ethynyl-2'-deoxyuridine (EdU). EdU incorporated into repair patches can be directly conjugated to fluorescent azide derivatives, thereby obviating the need for either radiolabeled thymidine or denaturation and antibody detection of incorporated bromodeoxyuridine (BrdU). We demonstrate that the EdU incorporation assay is compatible with conventional techniques such as immunofluorescent staining and labeling of cells with micro-latex beads. Importantly, we can complete the entire UDS assay within half a day from preparation of the assay coverslips; this technique may prove useful as a method for XP diagnosis.

Xeroderma Pigmentosum.

PubMed

Black, Jennifer O

2016-06-01

Xeroderma pigmentosum (XP) is a rare disorder of defective UV-radiation induced damage repair that is characterized by photosensitivity with easy skin burning following minimal sun exposure, early freckling and development of lentiginous pigmentation along with other features of poikiloderma and a propensity for developing skin cancer at an early age. In this short review, the clinical, pathological, genetic and molecular aspects of XP are reviewed in the current literature. XP encompasses a spectrum of disease that overlaps with other diseases of DNA repair systems. In addition to cutaneous complications, patients are susceptible to eye conditions, neurodegenerative processes, central nervous system tumors and other tumors as a result of UV radiation exposure and its byproducts. Patients with XP frequently experience a shorter life span due to skin cancer and neurodegenerative sequelae, but aggressive preventative measures to minimize UV radiation exposure and damage can improve the course of disease and prolong life. The disease has served as a model for photoaging and UV radiation-induced cancer and has led to a better understanding of cell processes that prevent development of these disease features in normal individuals.

Cavitation Events in Thuja occidentalis L.? 1

PubMed Central

Tyree, Melvin T.; Dixon, Michael A.

1983-01-01

Ultrasonic acoustic emissions (AE) in the frequency range of 0.1 to 1 megahertz appear to originate in the sapwood of Thuja occidentalis L. The AE are vibrations of an impulsive nature. The vibrations can be transduced to a voltage waveform and amplified. The vibrations of each AE event begin at a large amplitude which decays over 20 to 100 microseconds. Strong circumstantial evidence indicates that the ultrasonic AE result from cavitation events because: (a) they occur only when the xylem pressure potential Ψxp is more negative than a threshold level of about —1 megapascal; (b) the rate of AE events increases as Ψxp decreases and when the net rate of water loss increases; (c) the AE can be stopped by raising Ψxp above —1 megapascal. Ultrasonic AE have been measured in whole terminal shoots allowed to dry in the laboratory, in isolated pieces of sapwood as they dried in the laboratory, and in whole terminal shoots in a pressure bomb when Ψxp was decreased by lowering the gas pressure in the pressure bomb. PMID:16663126

A study of methods of prediction and measurement of the transmission sound through the walls of light aircraft

NASA Technical Reports Server (NTRS)

Forssen, B.; Wang, Y. S.; Crocker, M. J.

1981-01-01

Several aspects were studied. The SEA theory was used to develop a theoretical model to predict the transmission loss through an aircraft window. This work mainly consisted of the writing of two computer programs. One program predicts the sound transmission through a plexiglass window (the case of a single partition). The other program applies to the case of a plexiglass window window with a window shade added (the case of a double partition with an air gap). The sound transmission through a structure was measured in experimental studies using several different methods in order that the accuracy and complexity of all the methods could be compared. Also, the measurements were conducted on the simple model of a fuselage (a cylindrical shell), on a real aircraft fuselage, and on stiffened panels.

A study of methods of prediction and measurement of the transmission sound through the walls of light aircraft

NASA Astrophysics Data System (ADS)

Forssen, B.; Wang, Y. S.; Crocker, M. J.

1981-12-01

Several aspects were studied. The SEA theory was used to develop a theoretical model to predict the transmission loss through an aircraft window. This work mainly consisted of the writing of two computer programs. One program predicts the sound transmission through a plexiglass window (the case of a single partition). The other program applies to the case of a plexiglass window window with a window shade added (the case of a double partition with an air gap). The sound transmission through a structure was measured in experimental studies using several different methods in order that the accuracy and complexity of all the methods could be compared. Also, the measurements were conducted on the simple model of a fuselage (a cylindrical shell), on a real aircraft fuselage, and on stiffened panels.

Review of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with focus on pathobiological aspect.

PubMed

Kuroda, Naoto; Mikami, Shuji; Pan, Chin-Chen; Cohen, Ronald J; Hes, Ondrej; Michal, Michal; Nagashima, Yoji; Tanaka, Yukichi; Inoue, Keiji; Shuin, Taro; Lee, Gang-Hong

2012-02-01

The concept of Xp11.2 renal cell carcinoma (RCC) was recently established as a tumor affecting 15% of RCC patients <45 years. Many patients present with advanced stage with frequent lymph node metastases. Histologically, Xp11.2 RCC is characterized by mixed papillary nested/alveolar growth pattern and tumor cells with clear and/or eosinophilic, voluminous cytoplasm. Neoplastic cells show intense nuclear immunoreactivity to TFE3, while focal immunostaining for melanocytic markers, including melanosome-associated antigen or Melan A in some cases, are also noted. Alpha smooth muscle actin and TFEB are consistently negative. Ultrastructurally, the ASPL-TFE3 RCC variant contains rhomboid crystals in the cytoplasm, similar to that observed in alveolar soft part sarcoma. The fusion of the TFE3 gene with several different genes, including ASPL(17q25), PRCC(1q21), PSF(1q34), NonO (Xq12) and CLTC (17q23) have been identified to date. The behavior of Xp11.2 RCC in children and young adults is considered as indolent even when diagnosed at advanced stage, including lymph node metastasis. However, Xp11.2 RCC in older patients behaves in a more aggressive fashion. Therapy includes nephrectomy with extended lymphadenectomy. There may be a role for new protease inhibitors in advanced inoperable disease. Further research is required to correlate clinical behavior with the expanding genetic spectrum of this tumor, and to establish standard therapy protocols for primary and metastatic lesions.

Xp11.2 Translocation renal cell carcinomas have a poorer prognosis than non-Xp11.2 translocation carcinomas in children and young adults: a meta-analysis.

PubMed

Qiu Rao; Bing Guan; Zhou, Xiao-jun

2010-12-01

Renal cell carcinomas (RCCs) in children and adolescents are much rarer than in adults. In this age group, Xp11.2 translocation RCCs were the most common subtype of pediatric RCCs. Information regarding the clinical behavior of pediatric RCCs remains controversial because of their relatively rare incidence. The authors aimed to perform a systematic review and meta-analysis to better define the biological features of pediatric RCCs. Eligible studies were identified through multiple search strategies. Studies were assessed for quality using the Jadad Quality Scale. Data were collected comparing overall survival (OS), disease-free survival (DFS), and stage in patients with TFE3 + pediatric RCCs and TFE3 - RCCs. A total of 4 studies were included for meta-analysis, and pooled odds ratios (ORs) with 95% confidence interval (CI) were calculated. The meta-analysis outcomes showed that TFE3 + pediatric RCCs were significantly associated with poorer outcomes (OS and DFS) and a higher stage (III/IV) than TFE3 - RCCs (pooled ORs for each group: 4.59 [95% CI = 1.46-14.42] for OS; 5.79 [95% CI = 1.85-18.16] for DFS; and 5.89 [95% CI = 2.23-15.52] for stage). This result was also confirmed by OS and DFS curves (P = .005 and P = .001). Xp11.2 translocation carcinomas appear to have a poorer prognosis than non-Xp11.2 translocation carcinomas in children and young adults.

Ultrasonographic Findings of Renal Cell Carcinomas Associated with Xp11.2 Translocation/TFE3 Gene Fusion

PubMed Central

Zeng, Hao

2017-01-01

Objective This study was to investigate the features of renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions (Xp11.2-RCC) on conventional ultrasound (US) and contrast-enhanced ultrasound (CEUS). Methods US and CEUS features of twenty-two cases with histopathologically proven Xp11.2-RCC were retrospectively reviewed. Results 22 patients (11 males, 11 females) were included in this study, with a mean age of 28.3 ± 20.4 years. Eight tumors (36.3%, 8/22) were in left kidney, and 14 tumors (63.7%, 14/22) were in right kidney. All tumors (100%, 22/22) were mixed echogenicity type. 13 tumors (59.1%, 13/22) presented small dotted calcifications. The boundary of 14 tumors (63.6%, 14/22) was sharp and the other 8 tumors' (36.4%, 8/22) boundary was blurry. By CEUS, in early phase, the solid element of all tumors showed obvious enhancement. In delayed phase, 13 tumors showed hypoenhancement, seven tumors showed isoenhancement, and 2 tumors showed hyperenhancement. There were irregular nonenhancement areas in all tumors inside. Conclusions By US and CEUS, when children and adolescents were found to have hyperechoic mixed tumor in kidney with sharp margin and calcification, and the tumors showed obvious enhancement and hypoenhancement with irregular nonenhancement areas in the tumor in early phase and delayed phase, respectively, Xp11.2-RCC should be suspected. PMID:29333109

Structure and Barr body formation of an Xp + chromosome with two inactivation centers.

PubMed Central

Daly, R F; Patau, K; Therman, E; Sarto, G E

1977-01-01

A patients with seizures, Von Willebrand disease, and symptoms of Turner syndrome was a chromosomal mosaic. In blood culture (1974), 56% of the cells were 45, X 33% 46, XXp+ and 11% 47,XXp + Xp +; in the skin, no cells with 47 chromosomes were found. Presumably the Xp + chromosome arose through a break in the Q-banded dark region next to the centromere on Xp to which an Xq had been attached. The abnormal X was late-labeling and formed a larger than normal Barr body. Of the chromatin-positive fibroblasts, 18.2% showed bipartite Barr bodies, which agrees with the hypothesis that the X inactivation center lies on the proximal part of the Xq. On the basis of the structure and behavior of the bipartite bodies in the present patient, as compared to those formed by other chromosomes with two presumed inactivation centers, we propose that the dark region next to the centromere of Xp remains active in the inactive X. In cells with 45,X and 46,XY, this region has the same relative size, whereas it is significantly shorter in the active X of three females, including the present patient, with one abnormal X. We propose that this region on the active X reveals different states of activity, as reflected in its length, depending on how many other X chromosomes are in the cell. Images Fig. 1 Fig. 2 Fig. 3 PMID:299980

Location interval at Xp22.3 for X-linked chondrodysplasia punctata

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sheffield, L.; Hutchison, W.; Holloway, A.

1994-09-01

The literature shows that there is a gene for chondropdysplasia punctata (CDP) located at Xp22.3 from the study of chromosomal rearrangements involving Xp. It is also suspected that there are genes for short stature and mental retardation nearby. Petit has described a family of brachytelephalangic CDP that was due to a submicroscopic interstitial deletion of Xp22.3. Symmetrical (mild) CDP seems to be identical to brachytelephalangic CDP clinically, has variable features of short stature and mental retardation, and has a preponderance of affected males. We describe results using DNA probes from Xp22.3 in 10 patients with radiologically proven symmetrical CDP. Othermore » known genes in this region have a high proportion of deletions as we screened our patients for deletions in DXYS20, MIC2, PABX, DXYS159X, DXS283, DXS285, J502(PCR), DXS31, DXS43 (listed distally to proximally). No deletions were found. We have also studied a fetus with proven CDP who has a X,Y translocation (46,V,t(X;Y)(p22.3;q12)mat). This patient was deleted for all distal probes up to J502(PCR). It is not yet known where the breakpoint lies but it may be just proximal to the CDP gene. The results of the 10 symmetrical CDPs and the X;Y translocation fetus are presented with further definition of the X chromosomal breakpoint in the translocation.« less

Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients.

PubMed

Amr, Khalda; Messaoud, Olfa; El Darouti, Mohamad; Abdelhak, Sonia; El-Kamah, Ghada

2014-01-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease characterized by hyperphotosensitivity, DNA repair defects and a predisposition to skin cancers. The most frequently occurring type worldwide is the XP group A (XPA). There is a close relationship between the clinical features that ranged from severe to mild form and the mutational site in XPA gene. The aim of this study is to carry out the mutational analysis in Egyptian patients with XP-A. This study was carried out on four unrelated Egyptian XP-A families. Clinical features were examined and direct sequencing of the coding region of XPA gene was performed in patients and their parents. Direct sequencing of the whole coding region of the XPA gene revealed the identification of two homozygous nonsense mutations: (c.553C >T; p.(Gln185)) and (c.331G>T; p.(Glu111)), which create premature, stop codon and a homodeletion (c.374delC: p.Thr125Ilefs 15) that leads to frameshift and premature translation termination. We report the identification of one novel XPA gene mutation and two known mutations in four unrelated Egyptian families with Xermoderma pigmentosum. All explored patients presented severe neurological abnormalities and have mutations located in the DNA binding domain. This report gives insight on the mutation spectrum of XP-A in Egypt. This would provide a valuable tool for early diagnosis of this severe disease. © 2013 Elsevier B.V. All rights reserved.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Schulte, Kevin L.; France, Ryan M.; McMahon, William E.

In this work we develop control over dislocation glide dynamics in Ga xIn 1-xP compositionally graded buffer layers (CGBs) through control of CuPt ordering on the group-III sublattice. The ordered structure is metastable in the bulk, so any glissile dislocation that disrupts the ordered pattern will release stored energy, and experience an increased glide force. Here we show how this connection between atomic ordering and dislocation glide force can be exploited to control the threading dislocation density (TDD) in Ga xIn 1-xP CGBs. When ordered Ga xIn 1-xP is graded from the GaAs lattice constant to InP, the order parametermore » ..eta.. decreases as x decreases, and dislocation glide switches from one set of glide planes to the other. This glide plane switch (GPS) is accompanied by the nucleation of dislocations on the new glide plane, which typically leads to increased TDD. We develop control of the GPS position within a Ga xIn 1-xP CGB through manipulation of deposition temperature, surfactant concentration, and strain-grading rate. We demonstrate a two-stage Ga xIn 1-xP CGB from GaAs to InP with sufficiently low TDD for high performance devices, such as the 4-junction inverted metamorphic multi-junction solar cell, achieved through careful control the GPS position. Here, experimental results are analyzed within the context of a model that considers the force balance on dislocations on the two competing glide planes as a function of the degree of ordering.« less

Web Based Information System for Job Training Activities Using Personal Extreme Programming (PXP)

NASA Astrophysics Data System (ADS)

Asri, S. A.; Sunaya, I. G. A. M.; Rudiastari, E.; Setiawan, W.

2018-01-01

Job training is one of the subjects in university or polytechnic that involves many users and reporting activities. Time and distance became problems for users to reporting and to do obligations tasks during job training due to the location where the job training took place. This research tried to develop a web based information system of job training to overcome the problems. This system was developed using Personal Extreme Programming (PXP). PXP is one of the agile methods is combination of Extreme Programming (XP) and Personal Software Process (PSP). The information system that has developed and tested which are 24% of users are strongly agree, 74% are agree, 1% disagree and 0% strongly disagree about system functionality.

Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusions: Clinical Features, Treatments and Prognosis.

PubMed

Liu, Ning; Wang, Zhen; Gan, Weidong; Xiong, Lei; Miao, Baolei; Chen, Xiancheng; Guo, Hongqian; Li, Dongmei

2016-01-01

To investigate the clinical characteristics, treatments and prognosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 tRCC), the epidemiological features and treatment results of 34 cases of Xp11.2 tRCC, which were diagnosed by immunohistochemistry staining of TFE3 and fluorescence in situ hybridization at our center, were retrospectively reviewed. The 34 patients included 21 females and 13 males aged 3 to 64 years (median age: 27 years). Four patients were children or adolescents (<18 years of age), and 26 patients were young or middle-aged adults (18-45 years). Radical nephrectomy was performed on 25 patients. Laparoscopic nephron-sparing surgery was performed on 9 patients who presented with an isolated mass with a small diameter (<7 cm) and well-defined boundary on computed tomography imaging. Postoperative staging showed that 25 cases (73.53%) were at stage I/II, while 9 cases (26.47%) were at stage III/IV. All stage I/II patients received a favorable prognosis with a three-year overall survival rate of 100%, including the patients who underwent laparoscopic nephron-sparing surgery. With the exception of 2 children, the other 7 stage III/IV patients died or developed recurrence with a median follow-up of 29 months. On univariate analysis, maximum diameter, adjuvant treatment, TNM stage, lymph node metastasis, inferior vena cava tumor thrombosis and tumor boundary were identified as statistically significant factors impacting survival (P<0.05). Multivariate analysis indicated that TNM stage and inferior vena cava tumor thrombosis were independent prognostic factors (P<0.05). In conclusion, Xp11.2 tRCC is a rare subtype of renal cell carcinoma that mainly occurs in young females. Nephron-sparing surgery was confirmed effective preliminarily in the treatment of small Xp11.2 tRCCs with clear rims. Advanced TNM stage and inferior vena cava tumor thrombosis were associated with poor prognosis.

TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma

PubMed Central

Xu, Yongcan; Rao, Qiu; Xia, Qiuyuan; Shi, Shanshan; Shi, Qunli; Ma, Henghui; Lu, Zhenfeng; Chen, Hui; Zhou, Xiaojun

2015-01-01

TFE3 translocation renal cell carcinoma is a highly aggressive malignancy which often occurs primarily in children and young adults. The pathognomonic molecular lesion in this subtype is a translocation event involving the TFE3 transcription factor at chromosome Xp11.2. Hence, the pathological diagnosis of an Xp11.2 translocation RCC is based upon morphology, TFE3 immunohistochemistry, or genetic analyses. However, due to the false-positive immunoreactivity for TFE3 IHC and expensive for TFE3 break-apart FISH assay, additional molecular markers are necessary to help provide early diagnose and individualization treatment. Owing to recent advances in microarray and RNA-Seq, Pflueger et al. have discovered that TMED6-COG8 is dramatically increased in TFE3 translocation RCCs, compared with clear cell RCCs and papillary RCCs, implying that TMED6-COG8 might be a new molecular tumor marker of TFE3 translocation RCCs. To extend this observation, we firstly validated the TMED6-COG8 expression level by qRT-PCR in RCCs including Xp11.2 translocation RCCs (n = 5), clear cell RCCs (n = 7) and papillary RCCs (n = 5). Then, we also examined the expression level of TMED6-COG8 chimera in Xp11.2 translocation alveolar soft part sarcoma. We found that TMED6-COG8 chimera expression level was higher in Xp11.2 translocation RCCs than in ASPS (P < 0.05). What’s more, the expression levels of TMED6-COG8 chimera in esophagus cancers (n = 32), gastric cancers (n = 11), colorectal cancers (n = 12), hepatocellular carcinomas (n = 10) and non-small-cell lung cancers (n = 12) were assessed. Unexpectedly, TMED6-COG8 chimera was decreased in these five human types. Therefore, our observations from this study indicated that TMED6-COG8 chimera might act as a novel diagnostic marker in Xp11.2 translocation RCCs. PMID:26045774

Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusions: Clinical Features, Treatments and Prognosis

PubMed Central

Gan, Weidong; Xiong, Lei; Miao, Baolei; Chen, Xiancheng; Guo, Hongqian; Li, Dongmei

2016-01-01

To investigate the clinical characteristics, treatments and prognosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 tRCC), the epidemiological features and treatment results of 34 cases of Xp11.2 tRCC, which were diagnosed by immunohistochemistry staining of TFE3 and fluorescence in situ hybridization at our center, were retrospectively reviewed. The 34 patients included 21 females and 13 males aged 3 to 64 years (median age: 27 years). Four patients were children or adolescents (<18 years of age), and 26 patients were young or middle-aged adults (18–45 years). Radical nephrectomy was performed on 25 patients. Laparoscopic nephron-sparing surgery was performed on 9 patients who presented with an isolated mass with a small diameter (<7 cm) and well-defined boundary on computed tomography imaging. Postoperative staging showed that 25 cases (73.53%) were at stage I/II, while 9 cases (26.47%) were at stage III/IV. All stage I/II patients received a favorable prognosis with a three-year overall survival rate of 100%, including the patients who underwent laparoscopic nephron-sparing surgery. With the exception of 2 children, the other 7 stage III/IV patients died or developed recurrence with a median follow-up of 29 months. On univariate analysis, maximum diameter, adjuvant treatment, TNM stage, lymph node metastasis, inferior vena cava tumor thrombosis and tumor boundary were identified as statistically significant factors impacting survival (P<0.05). Multivariate analysis indicated that TNM stage and inferior vena cava tumor thrombosis were independent prognostic factors (P<0.05). In conclusion, Xp11.2 tRCC is a rare subtype of renal cell carcinoma that mainly occurs in young females. Nephron-sparing surgery was confirmed effective preliminarily in the treatment of small Xp11.2 tRCCs with clear rims. Advanced TNM stage and inferior vena cava tumor thrombosis were associated with poor prognosis. PMID:27893792

A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2.

PubMed

Katz, Bradley J; Zhao, Yu; Warner, Judith E A; Tong, Zongzhong; Yang, Zhenglin; Zhang, Kang

2006-10-15

Autosomal dominant optic atrophy (ADOA) is the most common inherited optic atrophy. Clinical features of ADOA include a slowly progressive bilateral loss of visual acuity, constriction of peripheral visual fields, central scotomas, and color vision abnormalities. Although ADOA is the most commonly inherited optic atrophy, autosomal recessive, X-linked, mitochondrial, and sporadic forms have also been reported. Four families with X-linked optic atrophy (XLOA) were previously described. One family was subsequently linked to Xp11.4-Xp11.2 (OPA2). This investigation studied one multi-generation family with an apparently X-linked form of optic atrophy and compared their clinical characteristics with those of the previously described families, and determined whether this family was linked to the same genetic locus. Fifteen individuals in a three-generation Idaho family underwent complete eye examination, color vision testing, automated perimetry, and fundus photography. Polymorphic markers were used to genotype each individual and to determine linkage. Visual acuities ranged from 20/30 to 20/100. All affected subjects had significant optic nerve pallor. Obligate female carriers were clinically unaffected. Preliminary linkage analysis (LOD score = 1.8) revealed that the disease gene localized to the OPA2 locus on Xp11.4-Xp11.2. Four forms of inherited optic neuropathy, ADOA, autosomal recessive optic atrophy (Costeff Syndrome), Leber hereditary optic neuropathy, and Charcot-Marie-Tooth disease with optic atrophy, are associated with mitochondrial dysfunction. Future identification of the XLOA gene will reveal whether this form of optic atrophy is also associated with a mitochondrial defect. Identification of the XLOA gene will advance our understanding of the inherited optic neuropathies and perhaps suggest treatments for these diseases. An improved understanding of inherited optic neuropathies may in turn advance our understanding of acquired optic nerve diseases, such as glaucoma and ischemic optic neuropathy. (c) 2006 Wiley-Liss, Inc.

Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.

PubMed

Scott, Stuart A; Cohen, Ninette; Brandt, Tracy; Warburton, Peter E; Edelmann, Lisa

2010-09-01

Turner syndrome (TS) results from whole or partial monosomy X and is mediated by haploinsufficiency of genes that normally escape X-inactivation. Although a 45,X karyotype is observed in half of all TS cases, the most frequent variant TS karyotype includes the isodicentric X chromosome alone [46,X,idic(X)(p11)] or as a mosaic [46,X,idic(X)(p11)/45,X]. Given the mechanism of idic(X)(p11) rearrangement is poorly understood and breakpoint sequence information is unknown, this study sought to investigate the molecular mechanism of idic(X)(p11) formation by determining their precise breakpoint intervals. Karyotype analysis and fluorescence in situ hybridization mapping of eight idic(X)(p11) cell lines and three unbalanced Xp11.2 translocation lines identified the majority of breakpoints within a 5 Mb region, from approximately 53 to 58 Mb, in Xp11.1-p11.22, clustering into four regions. To further refine the breakpoints, a high-resolution oligonucleotide microarray (average of approximately 350 bp) was designed and array-based comparative genomic hybridization (aCGH) was performed on all 11 idic(X)(p11) and Xp11.2 translocation lines. aCGH analyses identified all breakpoint regions, including an idic(X)(p11) line with two potential breakpoints, one breakpoint shared between two idic(X)(p11) lines and two Xp translocations that shared breakpoints with idic(X)(p11) lines. Four of the breakpoint regions included large inverted repeats composed of repetitive gene clusters and segmental duplications, which corresponded to regions of copy-number variation. These data indicate that the rearrangement sites on Xp11.2 that lead to isodicentric chromosome formation and translocations are probably not random and suggest that the complex repetitive architecture of this region predisposes it to rearrangements, some of which are recurrent.

Nephron-sparing surgery in the treatment of pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions.

PubMed

Liu, Chao; Zhang, Weiping; Song, Hongcheng

2017-09-01

To investigate the safety and efficacy of nephron-sparing surgery (NSS) in the treatment of pediatric Xp11.2 translocation renal cell carcinoma (RCC). Clinical characteristics of 9 RCC children (7 males and 2 females) with Xp11.2 translocation who received NSS between January 1973 and December 2015 were retrospectively analyzed. The mean age was 7.8years (range: 4.5-13.5years). Xp11.2 translocation RCC was found in the left side in 4 patients and right in 5. 3 tumors were located in the upper pole of the kidney, 1 in the middle dorsal, 1 in the middle ventral and 4 in the lower pole. RCC presented with painless gross hematuria in 4 patients, abdominal mass in 1, and as an incidental finding by ultrasound examination in 4 patients. The mean course of hematuria was 3months (range: 1-7months). The mean tumor diameters were 3.7cm (range: 2.2-6.9cm). All the patients received NSS with open transperitoneal approach. The mean operative time and estimated blood loss were 115min and 40ml, respectively. The time of renal pedicle clamping was 19-25min (mean: 21.5min). No complications (such as leakage of urine, prolonged drainage or secondary bleeding) were noted. No patients experienced local recurrence during the mean of 50.1-month follow-up (range: 13-117months). Intravenous urography (IVU) or contrast-enhanced CT was conducted at 6months after surgery which showed favorable kidney function in all patients. Xp11.2 translocation RCC is a predominant pathological but biologically inert type of pediatric RCC. For Xp11.2 translocation RCC sized <4-7cm in diameter and located in one pole, NSS is safe and feasible. Treatment Studies, LEVEL IV. Copyright © 2017 Elsevier Inc. All rights reserved.

Varicocelescintigraphy versus X-ray phlebography

DOE Office of Scientific and Technical Information (OSTI.GOV)

Oei, H.Y.; Arndt, J.W.; Mali, W.P.T.

1984-01-01

In this study varicocelescintigraphy (VS) is compared to X-ray phlebography(XP). In 104 patients (pts) suspected for varicocele on physical examination, VS was performed using a large field camera and 5 mCi Tc-99m in-vivo labeled erythrocytes. This was done (without Valsalva) in upright position after taping penis to the abdomen, marking the penisbase and covering the thighs with lead. Twenty 5-sec dynamic images (DY) and 5-min static image (ST) were made. Variocele-size was quantitated by bloodpoolvalue (BPV) using digital image of ST. BPV is the ratio of mean counts/pixel in varicocele and right iliac vessels calculated from adjacent pixels with maximummore » counts. On XP varicocele was diagnosed if the testicular vein was visualized after contrast injection given during Valsalva in the renal vein. In 85 pts varicocele was confirmed on XP. In 67 of them this was recognized easily on both DY and ST; the DY shows activity in the varicocele 10-35 sec later than the iliac artery and the ST shows pooling of activity below the penisbase. In 11 pts the varicocele was only seen on ST and in other 5 pts only on DY. In the remaining 2 pts both DY and ST were false negative. The BPV in 72 pts with abnormal DY and in 11 pts with normal DY varied between 0.4 - 2.2(0.89 +- 0.38) resp. 0.4 - 1.0(0.61 +- 0.19). In 16 of the 19 pts who showed no varicocele on XP, VS also was negative; their BPV varied between 0.2 - 0.4(0.30 +- 0.08). However, in 3 pts who initially had a normal XP, varicocele was diagnosed on both DY and ST, which was confirmed when XP was repeated. Diagnosis of varicocele by physical examination is not accurate. VS is suitable for screenings procedure when both DY and ST are obtained. Pts with abnormal DY have larger varicocele than pts with normal DY.« less

GoPhast: a graphical user interface for PHAST

USGS Publications Warehouse

Winston, Richard B.

2006-01-01

GoPhast is a graphical user interface (GUI) for the USGS model PHAST. PHAST simulates multicomponent, reactive solute transport in three-dimensional, saturated, ground-water flow systems. PHAST can model both equilibrium and kinetic geochemical reactions. PHAST is derived from HST3D (flow and transport) and PHREEQC (geochemical calculations). The flow and transport calculations are restricted to constant fluid density and constant temperature. The complexity of the input required by PHAST makes manual construction of its input files tedious and error-prone. GoPhast streamlines the creation of the input file and helps reduce errors. GoPhast allows the user to define the spatial input for the PHAST flow and transport data file by drawing points, lines, or polygons on top, front, and side views of the model domain. These objects can have up to two associated formulas that define their extent perpendicular to the view plane, allowing the objects to be three-dimensional. Formulas are also used to specify the values of spatial data (data sets) both globally and for individual objects. Objects can be used to specify the values of data sets independent of the spatial and temporal discretization of the model. Thus, the grid and simulation periods for the model can be changed without respecifying spatial data pertaining to the hydrogeologic framework and boundary conditions. This report describes the operation of GoPhast and demonstrates its use with examples. GoPhast runs on Windows 2000, Windows XP, and Linux operating systems.

An application of a relational database system for high-throughput prediction of elemental compositions from accurate mass values.

PubMed

Sakurai, Nozomu; Ara, Takeshi; Kanaya, Shigehiko; Nakamura, Yukiko; Iijima, Yoko; Enomoto, Mitsuo; Motegi, Takeshi; Aoki, Koh; Suzuki, Hideyuki; Shibata, Daisuke

2013-01-15

High-accuracy mass values detected by high-resolution mass spectrometry analysis enable prediction of elemental compositions, and thus are used for metabolite annotations in metabolomic studies. Here, we report an application of a relational database to significantly improve the rate of elemental composition predictions. By searching a database of pre-calculated elemental compositions with fixed kinds and numbers of atoms, the approach eliminates redundant evaluations of the same formula that occur in repeated calculations with other tools. When our approach is compared with HR2, which is one of the fastest tools available, our database search times were at least 109 times shorter than those of HR2. When a solid-state drive (SSD) was applied, the search time was 488 times shorter at 5 ppm mass tolerance and 1833 times at 0.1 ppm. Even if the search by HR2 was performed with 8 threads in a high-spec Windows 7 PC, the database search times were at least 26 and 115 times shorter without and with the SSD. These improvements were enhanced in a low spec Windows XP PC. We constructed a web service 'MFSearcher' to query the database in a RESTful manner. Available for free at http://webs2.kazusa.or.jp/mfsearcher. The web service is implemented in Java, MySQL, Apache and Tomcat, with all major browsers supported. sakurai@kazusa.or.jp Supplementary data are available at Bioinformatics online.

FAPT: A Mathematica package for calculations in QCD Fractional Analytic Perturbation Theory

NASA Astrophysics Data System (ADS)

Bakulev, Alexander P.; Khandramai, Vyacheslav L.

2013-01-01

We provide here all the procedures in Mathematica which are needed for the computation of the analytic images of the strong coupling constant powers in Minkowski (A(s;nf) and Aνglob(s)) and Euclidean (A(Q2;nf) and Aνglob(Q2)) domains at arbitrary energy scales (s and Q2, correspondingly) for both schemes — with fixed number of active flavours nf=3,4,5,6 and the global one with taking into account all heavy-quark thresholds. These singularity-free couplings are inevitable elements of Analytic Perturbation Theory (APT) in QCD, proposed in [10,69,70], and its generalization — Fractional APT, suggested in [42,46,43], needed to apply the APT imperative for renormalization-group improved hadronic observables. Program summaryProgram title: FAPT Catalogue identifier: AENJ_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AENJ_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 1985 No. of bytes in distributed program, including test data, etc.: 1895776 Distribution format: tar.gz Programming language: Mathematica. Computer: Any work-station or PC where Mathematica is running. Operating system: Windows XP, Mathematica (versions 5 and 7). Classification: 11.5. Nature of problem: The values of analytic images A(Q2) and A(s) of the QCD running coupling powers αsν(Q2) in Euclidean and Minkowski regions, correspondingly, are determined through the spectral representation in the QCD Analytic Perturbation Theory (APT). In the program FAPT we collect all relevant formulas and various procedures which allow for a convenient evaluation of A(Q2) and A(s) using numerical integrations of the relevant spectral densities. Solution method: FAPT uses Mathematica functions to calculate different spectral densities and then performs numerical integration of these spectral integrals to obtain analytic images of different objects. Restrictions: It could be that for an unphysical choice of the input parameters the results are without any meaning. Running time: For all operations the run time does not exceed a few seconds. Usually numerical integration is not fast, so that we advise the use of arrays of precalculated data and then to apply the routine Interpolate(as shown in supplied example of the program usage, namely in the notebook FAPT_Interp.nb).

Pre-Milestone I Program Development Process Guide (ASC/YX).

DTIC Science & Technology

1993-11-01

the PMD tasking to a particular Center. In the case of ASC, the task is entered into the ASC New Work Review process for internal allocation. AFMC/XP...0 Prooect Team to support decisions they make in response to external and - - internal requirements. Data base inputs 1 I"" 11. 12 0EVEFJ.O RA" DW...other international capabilities (COD). Although these are considered during the pre-MS 0 tasks (Task 0.2), they are examined once again during the

CMMI Version 1.2 and Beyond Systems and Software Technology Conference

DTIC Science & Technology

2008-04-29

Presentation • “Extreme Programming (XP), Six Sigma, & CMMI: How They Can Work Together” • “CMMI V1.2 Model Changes” Presentation 5 CMMI Update: V1.2 and...Level 4 Reported Maturity Level 5 Reported Country Number of Appraisals Maturity Level 1 Reported Maturity Level 2 Reported Maturity Level 3...Reported Maturity Level 4 Reported Maturity Level 5 Reported Argentina 26 No Yes Yes Yes Yes Malaysia 29 No Yes Yes No Yes Australia 26 Yes Yes

Autism in Two Females with Duplications Involving Xp11.22-p11.23

ERIC Educational Resources Information Center

Edens, Anna C.; Lyons, Michael J.; Duron, Reyna M.; DuPont, Barbara R.; Holden, Kenton R.

2011-01-01

We present two phenotypically similar females with Xp duplication who have autism and epilepsy. Case 1 is a 14-year-old Honduran female with autism and medically refractory complex partial, secondarily generalized epilepsy. Case 2 is a 3-year-old Austrian female with autism and medically refractory complex partial epilepsy. Both patients also…

THERM 5 / WINDOW 5 NFRC simulation manual

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mitchell, Robin; Kohler, Christian; Arasteh, Dariush

This document, the ''THERM 5/WINDOW 5 NFRC Simulation Manual', discusses how to use the THERM and WINDOW programs to model products for NFRC certified simulations and assumes that the user is already familiar with those programs. In order to learn how to use these programs, it is necessary to become familiar with the material in both the ''THERM User's Manual'' and the ''WINDOW User's Manual''. In general, this manual references the User's Manuals rather than repeating the information. If there is a conflict between either of the User Manual and this ''THERM 5/''WINDOW 5 NFRC Simulation Manual'', the ''THERM 5/WINDOWmore » 5 NFRC Simulation Manual'' takes precedence. In addition, if this manual is in conflict with any NFRC standards, the standards take precedence. For example, if samples in this manual do not follow the current taping and testing NFRC standards, the standards not the samples in this manual, take precedence.« less

Carbon Nanotube Reinforced Flexible Windows for Blast Protection

DTIC Science & Technology

2010-07-01

transparent plastic composite for use as a material for window or as a laminate layer in the blast-resistant glazed window. This program focused...materials for window or as a laminate layer in the blast-resistant glazed window. It is obvious that further increasing the mechanical properties of...Dr. Ben Wang led the effort for design/fabrication of windows from the nanotube assembly and lamination experiments. 6 3. RESULTS AND

[Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes].

PubMed

Xing, Ya; Ji, Xing; Xiao, Bing; Jiang, Wen-ting; Hu, Qin; Hu, Juan; Cao, Ying; Tao, Jiong

2012-08-01

To characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients. Clinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene. PCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient. Combined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.

75 FR 11841 - Repowering Assistance Program

Federal Register 2010, 2011, 2012, 2013, 2014

2010-03-12

... application window. SUMMARY: RBS is announcing a new application window to submit applications for the...-time application window for remaining FY 2009 funds. Paperwork Reduction Act In accordance with the... allocate all of the FY 2009 authorized funds. Therefore, the Agency is opening a new application window to...

Dataset of proinflammatory cytokine and cytokine receptor gene expression in rainbow trout (Oncorhynchus mykiss) measured using a novel GeXP multiplex, RT-PCR assay

USDA-ARS?s Scientific Manuscript database

A GeXP multiplex, RT-PCR assay was developed and optimized that simultaneously measures expression of a suite of immune-relevant genes in rainbow trout (Oncorhynchus mykiss), concentrating on tumor necrosis factor and interleukin-1 ligand/receptor systems and acute phase response genes. The dataset ...

Xp11.2 translocation tumor: a rare cause of gross hematuria.

PubMed

Asaki, Howard E; Moshero, Gianni; Stanton, Melissa L; Humphreys, Mitchell R

2014-02-01

Xp11.2 translocation tumor is a rare but aggressive form of renal cell carcinoma that predominantly occurs in children but also may be found in young adults. Because this type of cancer is diagnosed via histologic and chromosomal analysis, clinicians should consider translocation tumor in the differential diagnosis of patients with renal lesions and gross hematuria.

Deletions of VCX-A and NLGN4: A Variable Phenotype Including Normal Intellect

ERIC Educational Resources Information Center

Macarov, M.; Zeigler, M.; Newman, J. P.; Strich, D.; Sury, V.; Tennenbaum, A.; Meiner, V.

2007-01-01

Background: Patients with Xp22.3 interstitial and terminal deletions have been shown to be affected by intellectual disability (ID) or autism. Previously, "VCX-A" (variably charged protein X-A), located at Xp22.3, was introduced as a gene for ID and its presence was suggested to be sufficient to maintain normal mental development. Recent reports…

Founder Mutations in Xeroderma Pigmentosum

PubMed Central

Tamura, Deborah; DiGiovanna, John J.; Kraemer, Kenneth H.

2012-01-01

In this issue, Soufir et al. report a founder mutation in the XPC DNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia) of northern Africa. These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early diagnosis of XP. PMID:20463673

New process of preparation, X-ray characterisation, structure and vibrational studies of a solid solution LiTiOAs 1-xP xO 4 (0⩽ x⩽1)

NASA Astrophysics Data System (ADS)

Chakir, M.; El Jazouli, A.; Chaminade, J. P.; Bouree, F.; de Waal, D.

2006-01-01

LiTiOAs 1-xP xO 4 (0⩽ x⩽1) compounds have been prepared using solutions of Li, Ti, As and P elements as starting products. Selected compositions have been investigated by powder X-ray or neutrons diffraction analysis, Raman and infrared spectroscopy. The structure of LiTiOAs 1-xP xO 4 ( x=0, 0.5 and 1) samples determined by Rietveld analysis is orthorhombic with Pnma space group. It is formed by a 3D network of TiO 6 octahedra and XO 4 ( X=As 1-xP x) tetrahedra where octahedral cavities are occupied by lithium atoms. TiO 6 octahedra are linked together by corners and form infinite chains along a-axis. Ti atoms are displaced from the centre of octahedral units in alternating short (1.700-1.709 Å) and long (2.301-2.275 Å) Ti-O bonds. Raman and infrared studies confirm the existence of Ti-O-Ti chains. Thermal stability of LiTiOAsO 4 has been reported.

New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wittwer, B.; Kircheisen, R.; Leutelt, J.

1996-07-12

X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and intrauterine growth retardation were noted. Common anomalies included a square-shaped face, high and broad forehead, frontal bossing, downward slant of palpebral fissures, hypertelorism, epicanthic folds, long philtrum, thin upper lip, and apparently low-set ears. One boy has bilateral microphthalmos and sclerocornea, and his cousin has atrophy of the optic nerve. All 3 patients are blind and have profound statomotor andmore » mental retardation, seizures, and a grossly abnormal electroencephalographic pattern. Additional findings are short stature, delayed bone matuation, hydronephrosis, vesicorenal reflux, cryptorchidism, clinodactyly of the 5th fingers, and transverse palmar creases. The karyotype is normal (46,XY). Segregation analysis showed perfect coinheritance between the clinical phenotype and alleles at several loci in Xp22.3, whereas recombinants were identified with marker loci from Xp22.2-qter. Analysis of multiple informative meioses suggests that the disease locus maps in Xp22.3 distal to DXS16. 9 refs., 5 figs., 2 tabs.« less

Cardiopulmonary bypass-assisted surgery for the treatment of Xp11.2 translocation/TFE3 gene fusion renal cell carcinoma with a tumor thrombus within the inferior vena cava: A case report.

PubMed

Zhu, Guanchen; Qiu, Xuefeng; Chen, Xianchen; Liu, Guangxiang; Zhang, Gutian; Gan, Weidong; Guo, Hongqian

2015-12-01

Renal cell carcinoma (RCC) accounts for 85-90% of kidney cancers, which in turn account for 2-3% of all malignant tumors in adults. Xp11.2 translocation/TFE3 gene fusion RCC is currently classified as a distinct type of RCC. RCC is capable of invading the renal vein and inferior vena cava to form a tumor thrombus. The incidence of RCC with tumor thrombi within the renal vein or inferior vena cava is 7-10% in China. In the present case report, the patient underwent radical resection of the renal tumor and removal of the tumor thrombus, assisted by cardiopulmonary bypass, for the treatment of Xp11.2 translocation/TFE3 gene fusion RCC. The patient was followed-up for 12 months subsequent to treatment. The patient's renal function remained within the normal range, and computed tomography examination revealed no evidence of disease recurrence or metastases. The present case report aimed to provide a reference for the development of guidelines for the diagnosis and treatment of Xp11.2 translocation/TFE3 gene fusion RCC.

Cardiopulmonary bypass-assisted surgery for the treatment of Xp11.2 translocation/TFE3 gene fusion renal cell carcinoma with a tumor thrombus within the inferior vena cava: A case report

PubMed Central

ZHU, GUANCHEN; QIU, XUEFENG; CHEN, XIANCHEN; LIU, GUANGXIANG; ZHANG, GUTIAN; GAN, WEIDONG; GUO, HONGQIAN

2015-01-01

Renal cell carcinoma (RCC) accounts for 85–90% of kidney cancers, which in turn account for 2–3% of all malignant tumors in adults. Xp11.2 translocation/TFE3 gene fusion RCC is currently classified as a distinct type of RCC. RCC is capable of invading the renal vein and inferior vena cava to form a tumor thrombus. The incidence of RCC with tumor thrombi within the renal vein or inferior vena cava is 7–10% in China. In the present case report, the patient underwent radical resection of the renal tumor and removal of the tumor thrombus, assisted by cardiopulmonary bypass, for the treatment of Xp11.2 translocation/TFE3 gene fusion RCC. The patient was followed-up for 12 months subsequent to treatment. The patient's renal function remained within the normal range, and computed tomography examination revealed no evidence of disease recurrence or metastases. The present case report aimed to provide a reference for the development of guidelines for the diagnosis and treatment of Xp11.2 translocation/TFE3 gene fusion RCC. PMID:26788164

Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Rare Case Report with Review of the Literature.

PubMed

Ahluwalia, Puneet; Nair, Balagopal; Kumar, Ginil

2013-01-01

Introduction. The recently recognized renal cell carcinomas associated with Xp11.2 translocations are rare tumors predominantly reported in children. Chromosome Xp11.2 translocation results in gene fusion related to transcription factor E3 (TFE3) that plays an important role in proliferation and survival. Case Report. Herein, we present two cases of a TFE3 translocation-associated RCC in young female adults, one detected incidentally and the other one presenting with gross hematuria. Tumor is characterized by immunohistochemistry and a literature review with optimal treatment regimen is presented. Discussion. Xp11.2 translocation RCCs in adult patients are associated with advanced stages, large tumors, and extracapsular disease and usually have an aggressive clinical course. Conclusion. In TFE3 RCC, the genetic background may not only contribute to tumorigenesis, but also determine the response to chemotherapy and targeted therapy. Therefore it is necessary to diagnose this tumor entity accurately. Because of the small number of TFE3 gene fusion-related renal tumors described in the literature, the exact biologic behavior and impact of current treatment modalities remain to be uncertain.

A 13-year-old female with Xp11.2 translocation renal cell carcinoma; the first case diagnosed at Siriraj Hospital.

PubMed

Hanamornroongruang, Suchanan; Treetipsatit, Jitsupa; Pongtanakul, Bunchoo; Seangchai, Napakorn

2012-07-01

Xp11.2 translocation renal cell carcinomas are rare tumors characterized by translocations involving chromosome Xp11.2. These tumors are predominantly reported in pediatric patients. The authors report Xp11.2 translocation renal cell carcinoma in a 13-year-old girl who presented with asymptomatic palpable right renal mass. Right radical nephrectomy was performed and revealed a well-defined solid mass at the lower pole of the kidney. Microscopically, the tumor was composed of sheets and nests of clear to pale eosinophilic cells with some alveolar growth pattern. Psammoma bodies were detected. Immunohistochemically, the tumor cells marked with TFE3, focally marked with smooth muscle actin, HMB-45, CD68, progesterone receptor (PR) and CD10 but did not mark with epithelial markers (AE1/AE3, EMA and CAM5.2), vimentin, S-100 and p53. The presence of psammoma bodies is an important diagnostic clue for these tumors. Cytogenetic study and/or immunohistochemistry for TFE3 protein are needed for confirming the diagnosis. Currently, surgery seems to be the most effective therapy Pediatric patients with these tumors are believed to have a favorable prognosis.

Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Rare Case Report with Review of the Literature

PubMed Central

Ahluwalia, Puneet; Nair, Balagopal; Kumar, Ginil

2013-01-01

Introduction. The recently recognized renal cell carcinomas associated with Xp11.2 translocations are rare tumors predominantly reported in children. Chromosome Xp11.2 translocation results in gene fusion related to transcription factor E3 (TFE3) that plays an important role in proliferation and survival. Case Report. Herein, we present two cases of a TFE3 translocation-associated RCC in young female adults, one detected incidentally and the other one presenting with gross hematuria. Tumor is characterized by immunohistochemistry and a literature review with optimal treatment regimen is presented. Discussion. Xp11.2 translocation RCCs in adult patients are associated with advanced stages, large tumors, and extracapsular disease and usually have an aggressive clinical course. Conclusion. In TFE3 RCC, the genetic background may not only contribute to tumorigenesis, but also determine the response to chemotherapy and targeted therapy. Therefore it is necessary to diagnose this tumor entity accurately. Because of the small number of TFE3 gene fusion-related renal tumors described in the literature, the exact biologic behavior and impact of current treatment modalities remain to be uncertain. PMID:24455396

State-of-the-art software for window energy-efficiency rating and labeling

DOE Office of Scientific and Technical Information (OSTI.GOV)

Arasteh, D.; Finlayson, E.; Huang, J.

1998-07-01

Measuring the thermal performance of windows in typical residential buildings is an expensive proposition. Not only is laboratory testing expensive, but each window manufacturer typically offers hundreds of individual products, each of which has different thermal performance properties. With over a thousand window manufacturers nationally, a testing-based rating system would be prohibitively expensive to the industry and to consumers. Beginning in the early 1990s, simulation software began to be used as part of a national program for rating window U-values. The rating program has since been expanded to include Solar Hear Gain Coefficients and is now being extended to annualmore » energy performance. This paper describes four software packages available to the public from Lawrence Berkeley National Laboratory (LBNL). These software packages are used to evaluate window thermal performance: RESFEN (for evaluating annual energy costs), WINDOW (for calculating a product`s thermal performance properties), THERM (a preprocessor for WINDOW that determines two-dimensional heat-transfer effects), and Optics (a preprocessor for WINDOW`s glass database). Software not only offers a less expensive means than testing to evaluate window performance, it can also be used during the design process to help manufacturers produce windows that will meet target specifications. In addition, software can show small improvements in window performance that might not be detected in actual testing because of large uncertainties in test procedures.« less

AF-GEOSpace Version 2.0: Space Environment Software Products for 2002

NASA Astrophysics Data System (ADS)

Hilmer, R. V.; Ginet, G. P.; Hall, T.; Holeman, E.; Tautz, M.

2002-05-01

AF-GEOSpace Version 2.0 (release 2002 on WindowsNT/2000/XP) is a graphics-intensive software program developed by AFRL with space environment models and applications. It has grown steadily to become a development tool for automated space weather visualization products and helps with a variety of tasks: orbit specification for radiation hazard avoidance; satellite design assessment and post-event analysis; solar disturbance effects forecasting; frequency and antenna management for radar and HF communications; determination of link outage regions for active ionospheric conditions; and physics research and education. The object-oriented C++ code is divided into five module classes. Science Modules control science models to give output data on user-specified grids. Application Modules manipulate these data and provide orbit generation and magnetic field line tracing capabilities. Data Modules read and assist with the analysis of user-generated data sets. Graphics Modules enable the display of features such as plane slices, magnetic field lines, line plots, axes, the Earth, stars, and satellites. Worksheet Modules provide commonly requested coordinate transformations and calendar conversion tools. Common input data archive sets, application modules, and 1-, 2-, and 3-D visualization tools are provided to all models. The code documentation includes detailed examples with click-by-click instructions for investigating phenomena that have well known effects on communications and spacecraft systems. AF-GEOSpace Version 2.0 builds on the success of its predecessors. The first release (Version 1.21, 1996/IRIX on SGI) contained radiation belt particle flux and dose models derived from CRRES satellite data, an aurora model, an ionosphere model, and ionospheric HF ray tracing capabilities. Next (Version 1.4, 1999/IRIX on SGI) science modules were added related to cosmic rays and solar protons, low-Earth orbit radiation dosages, single event effects probability maps, ionospheric scintillation, and shock propagation models. New application modules for estimating linear energy transfer (LET) and single event upset (SEU) rates in solid-state devices, and graphic modules for visualizing radar fans, communication domes, and satellite detector cones and links were added. Automated FTP scripts permitted users to update their global input parameter set directly from NOAA/SEC. What?s New? Version 2.0 includes the first true dynamic run capabilities and offers new and enhanced graphical and data visualization tools such as 3-D volume rendering and eclipse umbra and penumbra determination. Animations of all model results can now be displayed together in all dimensions. There is a new realistic day-to-day ionospheric scintillation simulation generator (IONSCINT), an upgrade to the WBMOD scintillation code, a simplified HF ionospheric ray tracing module, and applications built on the NASA AE-8 and AP-8 radiation belt models. User-generated satellite data sets can now be visualized along with their orbital ephemeris. A prototype tool for visualizing MHD model results stored in structured grids provides a hint of where future space weather model development efforts are headed. A new graphical user interface (GUI) with improved module tracking and renaming features greatly simplifies software operation. AF-GEOSpace is distributed by the Space Weather Center of Excellence in the Space Vehicles Directorate of AFRL. Recently released for WindowsNT/2000/XP, versions for UNIX and LINUX operating systems will follow shortly. To obtain AF-GEOSpace Version 2.0, please send an e-mail request to the first author.

Millisecond timing on PCs and Macs.

PubMed

MacInnes, W J; Taylor, T L

2001-05-01

A real-time, object-oriented solution for displaying stimuli on Windows 95/98, MacOS and Linux platforms is presented. The program, written in C++, utilizes a special-purpose window class (GLWindow), OpenGL, and 32-bit graphics acceleration; it avoids display timing uncertainty by substituting the new window class for the default window code for each system. We report the outcome of tests for real-time capability across PC and Mac platforms running a variety of operating systems. The test program, which can be used as a shell for programming real-time experiments and testing specific processors, is available at http://www.cs.dal.ca/~macinnwj. We propose to provide researchers with a sense of the usefulness of our program, highlight the ability of many multitasking environments to achieve real time, as well as caution users about systems that may not achieve real time, even under optimal conditions.

Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.

PubMed

Lewis, R A; Nussbaum, R L; Stambolian, D

1990-01-01

The Nance-Horan syndrome (NHS) is an infrequent X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies. The regional location of the genetic mutation causing NHS is unknown. The authors applied the modern molecular techniques of analysis of restriction fragment length polymorphisms to five multigenerational kindreds in which NHS segregated. Provisional linkage is established to two DNA markers--DXS143 at Xp22.3-p22.2 and DXS43 at Xp22.2. Regional localization of NHS will provide potential antenatal diagnosis in families at risk for the disease and will enhance understanding of the multifaceted genetic defects.

Increased UV resistance of a xeroderma pigmentosum revertant cell line is correlated with selective repair of the transcribed strand of an expressed gene

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lommel, L.; Hanawalt, P.C.

1993-02-01

People that suffer from xeroderma pigmentosum (XP) are sun sensitive and experience elevated incidences of cancer, particularly skin cancers on sun-light exposed parts of their bodies. Cultured cells from XP patients are found to be subtantially more sensitive to lethal and mutagenic effects of ultraviolet (UV) radiation than are cells from unaffected individuals. Using the cells from XP individuals, researchers study the roles that cyclobutane pyrimidine dimers (CPDs) and 6-4 photoproducts play in UV resistance. The results demonstrate that overall repair measurements can be misleading, and they support the hypothesis that removal of CPDs form the transcribed strands of expressedmore » genes is essential for UV resistance. 36 refs., 5 figs., 1 tab.« less

Oxide formation and anodic polarization behavior of thin films of amorphous and crystalline FeCrP alloys prepared by ion beam mixing

NASA Astrophysics Data System (ADS)

Demaree, J. D.; Was, G. S.; Sorensen, N. R.

1991-07-01

An experimental program has been conducted to determine the effect of phosphorus on the corrosion and passivation behavior of FeCrP alloys. Chemically homogeneous 60 nm films of Fe10Cr xP ( x from 0 to 35 at.%) were prepared by multilayer evaporation followed by ion beam mixing with Kr + ions. Films with a phosphorus content of at least 25 at.% were found to be entirely amorphous, while films with 15 at.% P consisted of both amorphous and bcc phases. Recrystallization of the amorphous phase was accomplished by heating the samples to 450°C in a purified argon flow furnace. Electrochemical polarization tests in an acid solution have shown the Fe10Cr xP films to be more corrosion resistant than Fe10Cr, with the corrosion resistance increasing with the amount of P present. The corrosion resistance is not significantly affected when the amorphous films are recrystallized, indicating that the behavior is chemically controlled and not a result of the amorphous structure. When examined by XPS, the phosphorus appears to enhance passivation by encouraging Cr enrichment in the oxide and by incorporating in the oxide as phosphate.

Nasa Langley Research Center seventy-fifth anniversary publications, 1992

NASA Technical Reports Server (NTRS)

1992-01-01

The following are presented: The National Advisory Committee for Aeronautics Charter; Exploring NASA's Roots, the History of NASA Langley Research Center; NASA Langley's National Historic Landmarks; The Mustang Story: Recollections of the XP-51; Testing the First Supersonic Aircraft: Memoirs of NACA Pilot Bob Champine; NASA Langley's Contributions to Spaceflight; The Rendezvous that was Almost Missed: Lunar Orbit Rendezvous and the Apollo Program; NASA Langley's Contributions to the Apollo Program; Scout Launch Vehicle Program; NASA Langley's Contributions to the Space Shuttle; 69 Months in Space: A History of the First LDEF; NACA TR No. 460: The Characteristics of 78 Related Airfoil Sections from Tests in the Variable-Density Wind Tunnel; NACA TR No. 755: Requirements for Satisfactory Flying Qualities of Airplanes; 'Happy Birthday Langley' NASA Magazine Summer 1992 Issue.

Ada To X-Window Bindings

NASA Technical Reports Server (NTRS)

Souleles, Dean

1993-01-01

Ada to X-Window Bindings computer program developed to provide Ada programmers with complete interfaces to Xt Intrinsics and OSF Motif toolkits. Provides "Ada view" of some mostly C-language programming libraries. Package of software written in Ada and C languages.

Applications Performance on NAS Intel Paragon XP/S - 15#

NASA Technical Reports Server (NTRS)

Saini, Subhash; Simon, Horst D.; Copper, D. M. (Technical Monitor)

1994-01-01

The Numerical Aerodynamic Simulation (NAS) Systems Division received an Intel Touchstone Sigma prototype model Paragon XP/S- 15 in February, 1993. The i860 XP microprocessor with an integrated floating point unit and operating in dual -instruction mode gives peak performance of 75 million floating point operations (NIFLOPS) per second for 64 bit floating point arithmetic. It is used in the Paragon XP/S-15 which has been installed at NAS, NASA Ames Research Center. The NAS Paragon has 208 nodes and its peak performance is 15.6 GFLOPS. Here, we will report on early experience using the Paragon XP/S- 15. We have tested its performance using both kernels and applications of interest to NAS. We have measured the performance of BLAS 1, 2 and 3 both assembly-coded and Fortran coded on NAS Paragon XP/S- 15. Furthermore, we have investigated the performance of a single node one-dimensional FFT, a distributed two-dimensional FFT and a distributed three-dimensional FFT Finally, we measured the performance of NAS Parallel Benchmarks (NPB) on the Paragon and compare it with the performance obtained on other highly parallel machines, such as CM-5, CRAY T3D, IBM SP I, etc. In particular, we investigated the following issues, which can strongly affect the performance of the Paragon: a. Impact of the operating system: Intel currently uses as a default an operating system OSF/1 AD from the Open Software Foundation. The paging of Open Software Foundation (OSF) server at 22 MB to make more memory available for the application degrades the performance. We found that when the limit of 26 NIB per node out of 32 MB available is reached, the application is paged out of main memory using virtual memory. When the application starts paging, the performance is considerably reduced. We found that dynamic memory allocation can help applications performance under certain circumstances. b. Impact of data cache on the i860/XP: We measured the performance of the BLAS both assembly coded and Fortran coded. We found that the measured performance of assembly-coded BLAS is much less than what memory bandwidth limitation would predict. The influence of data cache on different sizes of vectors is also investigated using one-dimensional FFTs. c. Impact of processor layout: There are several different ways processors can be laid out within the two-dimensional grid of processors on the Paragon. We have used the FFT example to investigate performance differences based on processors layout.

Repair Mechanism of UV-damaged DNA in Xeroderma Pigmentosum | Center for Cancer Research

Cancer.gov

Xeroderma pigmentosum (XP) is a rare, inherited disorder characterized by extreme skin sensitivity to ultraviolet (UV) rays from sunlight. XP is caused by mutations in genes involved in nucleotide excision repair (NER) of damaged DNA. Normal cells are usually able to fix this damage before it leads to problems; however, the DNA damage is not repaired normally in patients with

X-linked dominant retinitis pigmentosa in an American family

DOE Office of Scientific and Technical Information (OSTI.GOV)

McGuire, R.E.; Daiger, S.P.; Blanton, S.H.

1994-09-01

Retinitis pigmentosa is a genetically heterogeneous disease with autosomal dominant (adRP), autosomal recessive and X-linked forms. At least 3 forms of X-linked retinitis pigmentosa have been reported: RP2 which maps to Xp11.4-p 11.23, RP3 which maps to Xp21.1 and RP6, which maps to Xp21.3-p21.1. The X-linked forms of retinitis pigmentosa are generally considered to be recessive as female carriers are not affected or are much less affected than males. Here we report a five generation American family with X-linked retinitis pigmentosa in which both males and females are significantly affected. The disease locus in this family appears to be distinctmore » from RP2 and RP3. The American family (UTAD054) presents with early-onset retinitis pigmentosa. The family appeared to fit an autosomal dominant pattern; however, linkage testing excluded all known adRP loci. Absence of male-to-male transmission in the pedigree suggested the possibility of X-linked dominant inheritance. Thus we tested six microsatellite markers that map to Xp (DXS987, DXS989, DXS993, DXS999, DXS1003 and DXS1110). Of these, DXS989 showed tight linkage with one allele (199) showing a 100% concordance with disease status. The odds favoring an X-linked dominant mode of inheritance in this family, versus autosomal dominant, are 10{sup 5}:1. In addition, recombinations for DXS999, and dXS1110, the two markers flanking DXS989, were observed in affected individuals. These data map the disease locus in this family to a 9 mb region on the X chromosome between Xp22.11 and Xp21.41. In addition, the recombinant individuals exclude close linkage to RP2 and RP3. The observance of high penetrance in females indicates that this family has X-linked dominant retinitis pigmentosa. We suggest that this mode of inheritance should be considered in other families with dominant retinitis pigmentosa but an absence of male-to-male transmission.« less

Effect of the anti-neoplastic drug doxorubicin on XPD-mutated DNA repair-deficient human cells.

PubMed

Saffi, Jenifer; Agnoletto, Mateus H; Guecheva, Temenouga N; Batista, Luís F Z; Carvalho, Helotonio; Henriques, João A P; Stary, Anne; Menck, Carlos F M; Sarasin, Alain

2010-01-02

Doxorubicin (DOX), a member of the anthracycline group, is a widely used drug in cancer therapy. The mechanisms of DOX action include topoisomerase II-poisoning, free radical release, DNA adducts and interstrand cross-link (ICL) formation. Nucleotide excision repair (NER) is involved in the removal of helix-distorting lesions and chemical adducts, however, little is known about the response of NER-deficient cell lines to anti-tumoral drugs like DOX. Wild type and XPD-mutated cells, harbouring mutations in different regions of this gene and leading to XP-D, XP/CS or TTD diseases, were treated with this drug and analyzed for cell cycle arrest and DNA damage by comet assay. The formation of DSBs was also investigated by determination of gammaH2AX foci. Our results indicate that all three NER-deficient cell lines tested are more sensitive to DOX treatment, when compared to wild type cells or XP cells complemented by the wild type XPD cDNA, suggesting that NER is involved in the removal of DOX-induced lesions. The cell cycle analysis showed the characteristic G2 arrest in repair-proficient MRC5 cell line after DOX treatment, whereas the repair-deficient cell lines presented significant increase in sub-G1 fraction. The NER-deficient cell lines do not show different patterns of DNA damage formation as assayed by comet assay and phosphorylated H2AX foci formation. Knock-down of topoisomerase IIalpha with siRNA leads to increased survival in both MRC5 and XP cells, however, XP cell line still remained significantly more sensitive to the treatment by DOX. Our study suggests that the enhanced sensitivity is due to DOX-induced DNA damage that is subject to NER, as we observed decreased unscheduled DNA synthesis in XP-deficient cells upon DOX treatment. Furthermore, the complementation of the XPD-function abolished the observed sensitivity at lower DOX concentrations, suggesting that the XPD helicase activity is involved in the repair of DOX-induced lesions. Copyright (c) 2009 Elsevier B.V. All rights reserved.

Conjugation of Benzylvanillin and Benzimidazole Structure Improves DNA Binding with Enhanced Antileukemic Properties

PubMed Central

Al-Mudarris, Ban A.; Chen, Shih-Hsun; Liang, Po-Huang; Osman, Hasnah; Jamal Din, Shah Kamal Khan; Abdul Majid, Amin M. S.

2013-01-01

Benzyl-o-vanillin and benzimidazole nucleus serve as important pharmacophore in drug discovery. The benzyl vanillin (2-(benzyloxy)-3-methoxybenzaldehyde) compound shows anti-proliferative activity in HL60 leukemia cancer cells and can effect cell cycle progression at G2/M phase. Its apoptosis activity was due to disruption of mitochondrial functioning. In this study, we have studied a series of compounds consisting of benzyl vanillin and benzimidazole structures. We hypothesize that by fusing these two structures we can produce compounds that have better anticancer activity with improved specificity particularly towards the leukemia cell line. Here we explored the anticancer activity of three compounds namely 2-(2-benzyloxy-3-methoxyphenyl)-1H-benzimidazole, 2MP, N-1-(2-benzyloxy-3-methoxybenzyl)-2-(2-benzyloxy-3-methoxyphenyl)-1H-benzimidazole, 2XP, and (R) and (S)-1-(2-benzyloxy-3-methoxyphenyl)-2, 2, 2-trichloroethyl benzenesulfonate, 3BS and compared their activity to 2-benzyloxy-3-methoxybenzaldehyde, (Bn1), the parent compound. 2XP and 3BS induces cell death of U937 leukemic cell line through DNA fragmentation that lead to the intrinsic caspase 9 activation. DNA binding study primarily by the equilibrium binding titration assay followed by the Viscosity study reveal the DNA binding through groove region with intrinsic binding constant 7.39 µM/bp and 6.86 µM/bp for 3BS and 2XP respectively. 2XP and 3BS showed strong DNA binding activity by the UV titration method with the computational drug modeling showed that both 2XP and 3BS failed to form any electrostatic linkages except via hydrophobic interaction through the minor groove region of the nucleic acid. The benzylvanillin alone (Bn1) has weak anticancer activity even after it was combined with the benzimidazole (2MP), but after addition of another benzylvanillin structure (2XP), stronger activity was observed. Also, the combination of benzylvanillin with benzenesulfonate (3BS) significantly improved the anticancer activity of Bn1. The present study provides a new insight of benzyl vanillin derivatives as potential anti-leukemic agent. PMID:24260527

Validation and utilization of a TFE3 break-apart FISH assay for Xp11.2 translocation renal cell carcinoma and alveolar soft part sarcoma.

PubMed

Pradhan, Dinesh; Roy, Somak; Quiroga-Garza, Gabriela; Cieply, Kathleen; Mahaffey, Alyssa L; Bastacky, Sheldon; Dhir, Rajiv; Parwani, Anil V

2015-09-29

Xp11.2 or TFE3 translocation renal cell carcinomas (RCC) and alveolar soft part sarcoma (ASPS) are characterized by chromosome translocations involving the Xp11.2 breakpoint resulting in transcription factor TFE3 gene fusions. The most common translocations documented in TFE3 RCCs are t(X;1) (p11.2;q21) and t(X;17) (p11.2;q25) which leads to fusion of TFE3 gene on Xp11.2 with PRCC or ASPL respectively. TFE3 immunohistochemistry (IHC) has been inconsistent over time due to background staining problems in part related to fixation issues. Karyotyping to detect TFE3 gene rearrangement requires typically unavailable fresh tissue. Reverse transcriptase-polymerase chain reaction (RT-PCR) is generally very challenging due to degradation of RNA in archival material. The study objective was to develop and validate a TFE3 break-apart fluorescence in situ hybridization (FISH) assay to confirm Xp11 translocation RCCs and ASPS. Representative sections of formalin-fixed paraffin-embedded tissue blocks were selected in 40 possible cases. Approximately 60 tumor cells were analyzed in the targeted region. The validation of TFE3 FISH was done with 11 negative and two positive cases. Cut off for a positive result was validated as >7.15 % positive nuclei with any pattern of break-apart signals. FISH evaluation was done blinded of the immunohistochemical or karyotype data. Three out of forty cases were positive for the TFE3 break-apart signals by FISH. The negative cases were reported as clear cell RCC with papillary features (10), clear cell RCC with sarcomatoid areas (2), Papillary RCC with clear cell areas (9), Chromophobe RCC (2), RCC, unclassified type (3) and renal medullary carcinoma (1). 3 of the negative cases were consultation cases for renal tumor with unknown histology. Seven negative cases were soft tissue tumor suspicious for ASPS. Our study validates the utility of TFE3 break-apart FISH on formalin-fixed paraffin-embedded tissue sections for diagnosis and confirmation of Xp11.2 translocation RCCs and ASPS.

24 CFR 200.955 - Supplementary specific requirements under the HUD building product standard and certification...

Code of Federal Regulations, 2010 CFR

2010-04-01

... under the HUD building product standard and certification program for fenestration products (windows and... fenestration products (windows and doors). (a) Applicable standards. (1) All windows and doors shall be... Windows and Glass Doors. (2) This standard has been approved by the Director of the Federal Register for...

Caffeine toxicity is inversely related to DNA repair in simian virus 40-transformed xeroderma pigmentosum cells irradiated with ultraviolet light

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cleaver, J.E.

1989-01-01

Human cells transformed by simian virus 40 (SV40) are more sensitive to killing by ultraviolet light when grown in caffeine after irradiation. The degree of sensitization at 2 mM caffeine (expressed as the ratio of the 37% survival dose for control cells divided by the 37% survival dose for cells grown in caffeine, i.e., the dose modification factor) was approximately 1.9 in transformed normal cells and 3.8-5.8 in excision-defective xeroderma pigmentosum (XP) groups A, C, and D cells. A large dose modification factor of 12 was observed in a transformed XP variant cell line. Chinese hamster ovary cells were notmore » significantly different from transformed normal human cells, with a maximum dose modification factor of 1.5. Two radioresistant XP revertants that do not excise cyclobutane dimers gave different responses; one resembled its group A parent in being sensitized by caffeine, and one did not. These results can be interpreted on the basis of a single hypothesis that cells are killed as a result of attempts to replicate damaged DNA. Increased replication rates caused by transformation, increased numbers of replication forks in DNA caused by caffeine, and increased numbers of damaged sites ahead of replication forks in excision-defective cells are all processes that will consequently increase killing according to this hypothesis. A corollary is that the XP variant may be highly sensitized to caffeine because of excision defects at the DNA replication forks, an idea that may be important in designing cloning strategies for the XP variant gene.« less

Precision and long-term stability of clumped-isotope analysis of CO2 using a small-sector isotope ratio mass spectrometer.

PubMed

Yoshida, Naohiro; Vasilev, Mikhail; Ghosh, Prosenjit; Abe, Osamu; Yamada, Keita; Morimoto, Maki

2013-01-15

The ratio of the measured abundance of (13)C-(18)O bonding CO(2) to its stochastic abundance, prescribed by the δ(13)C and δ(18)O values from a carbonate mineral, is sensitive to its growth temperature. Recently, clumped-isotope thermometry, which uses this ratio, has been adopted as a new tool to elucidate paleotemperatures quantitatively. Clumped isotopes in CO(2) were measured with a small-sector isotope ratio mass spectrometer. CO(2) samples digested from several kinds of calcium carbonates by phosphoric acid at 25 °C were purified using both cryogenic and gas-chromatographic separations, and their isotopic composition (δ(13)C, δ(18)O, Δ(47), Δ(48) and Δ(49) values) were then determined using a dual-inlet Delta XP mass spectrometer. The internal precisions of the single gas Δ(47) measurements were 0.005 and 0.02‰ (1 SE) for the optimum and the routine analytical conditions, respectively, which are comparable with those obtained using a MAT 253 mass spectrometer. The long-term variations in the Δ(47) values for the in-house working standard and the heated CO(2) gases since 2007 were close to the routine, single gas uncertainty while showing seasonal-like periodicities with a decreasing trend. Unlike the MAT 253, the Delta XP did not show any significant relationship between the Δ(47) and δ(47) values. The Delta XP gave results that were approximately as precise as those of the MAT 253 for clumped-isotope analysis. The temporal stability of the Delta XP seemed to be lower, although an advantage of the Delta XP was that no dependency of δ(47) on Δ(47) was found. Copyright © 2012 John Wiley & Sons, Ltd.

Phosphorylated 4EBP1 is associated with tumor progression and poor prognosis in Xp11.2 translocation renal cell carcinoma

PubMed Central

Qu, Yuanyuan; Zhao, Rui; Wang, Hongkai; Chang, Kun; Yang, Xiaoqun; Zhou, Xiaoyan; Dai, Bo; Zhu, Yao; Shi, Guohai; Zhang, Hailiang; Ye, Dingwei

2016-01-01

Two main signaling pathways, PI3K-AKT-mTOR and RAS-MAPK, are involved in transmitting the proliferative signals which play critical roles in human cancers. However, the functions of these pathways in Xp11.2 RCC remain undefined. This study aimed to explore the expression of mTOR and MAPK cascades in Xp11.2 RCC and to assess the prognostic significance of proteins evaluated. Immunohistochemistry was performed to evaluate the expression of 4EBP1, p-4EBP1, p-mTOR, p-S6K and p-MAPK in 36 adult Xp11.2 RCC patients who were confirmed by FISH assay. Cox regression models were used to evaluate the prognostic value of all covariates. Among 36 assessed patients, 14 (38.9%), 26 (72.2%), 16 (44.4%), 19 (52.8%), and 9 (25.0%) patients showed high expression of 4EBP1, p-4EBP1, p-mTOR, p-S6K, and p-MAPK, respectively. We noted that p-4EBP1 expression was significantly correlated with lymph node metastases (P = 0.027). Multivariate analysis showed that high p-4EBP1 expression was an independent adverse prognostic factor for both PFS (HR = 33.750, P = 0.017) and OS (HR = 56.111, P = 0.026). Our findings suggest that p-4EBP1 may serve as a funnel factor that converge the upstream proliferative oncogenic signals. Effective inhibition of the pathways responsible for 4E-BP1 phosphorylation might be a useful strategy to improve the outcome of Xp11.2 RCC patients. PMID:27026382

Phosphorylated 4EBP1 is associated with tumor progression and poor prognosis in Xp11.2 translocation renal cell carcinoma.

PubMed

Qu, Yuanyuan; Zhao, Rui; Wang, Hongkai; Chang, Kun; Yang, Xiaoqun; Zhou, Xiaoyan; Dai, Bo; Zhu, Yao; Shi, Guohai; Zhang, Hailiang; Ye, Dingwei

2016-03-30

Two main signaling pathways, PI3K-AKT-mTOR and RAS-MAPK, are involved in transmitting the proliferative signals which play critical roles in human cancers. However, the functions of these pathways in Xp11.2 RCC remain undefined. This study aimed to explore the expression of mTOR and MAPK cascades in Xp11.2 RCC and to assess the prognostic significance of proteins evaluated. Immunohistochemistry was performed to evaluate the expression of 4EBP1, p-4EBP1, p-mTOR, p-S6K and p-MAPK in 36 adult Xp11.2 RCC patients who were confirmed by FISH assay. Cox regression models were used to evaluate the prognostic value of all covariates. Among 36 assessed patients, 14 (38.9%), 26 (72.2%), 16 (44.4%), 19 (52.8%), and 9 (25.0%) patients showed high expression of 4EBP1, p-4EBP1, p-mTOR, p-S6K, and p-MAPK, respectively. We noted that p-4EBP1 expression was significantly correlated with lymph node metastases (P = 0.027). Multivariate analysis showed that high p-4EBP1 expression was an independent adverse prognostic factor for both PFS (HR = 33.750, P = 0.017) and OS (HR = 56.111, P = 0.026). Our findings suggest that p-4EBP1 may serve as a funnel factor that converge the upstream proliferative oncogenic signals. Effective inhibition of the pathways responsible for 4E-BP1 phosphorylation might be a useful strategy to improve the outcome of Xp11.2 RCC patients.

Extreme-phenotype genome-wide association study (XP-GWAS): a method for identifying trait-associated variants by sequencing pools of individuals selected from a diversity panel.

PubMed

Yang, Jinliang; Jiang, Haiying; Yeh, Cheng-Ting; Yu, Jianming; Jeddeloh, Jeffrey A; Nettleton, Dan; Schnable, Patrick S

2015-11-01

Although approaches for performing genome-wide association studies (GWAS) are well developed, conventional GWAS requires high-density genotyping of large numbers of individuals from a diversity panel. Here we report a method for performing GWAS that does not require genotyping of large numbers of individuals. Instead XP-GWAS (extreme-phenotype GWAS) relies on genotyping pools of individuals from a diversity panel that have extreme phenotypes. This analysis measures allele frequencies in the extreme pools, enabling discovery of associations between genetic variants and traits of interest. This method was evaluated in maize (Zea mays) using the well-characterized kernel row number trait, which was selected to enable comparisons between the results of XP-GWAS and conventional GWAS. An exome-sequencing strategy was used to focus sequencing resources on genes and their flanking regions. A total of 0.94 million variants were identified and served as evaluation markers; comparisons among pools showed that 145 of these variants were statistically associated with the kernel row number phenotype. These trait-associated variants were significantly enriched in regions identified by conventional GWAS. XP-GWAS was able to resolve several linked QTL and detect trait-associated variants within a single gene under a QTL peak. XP-GWAS is expected to be particularly valuable for detecting genes or alleles responsible for quantitative variation in species for which extensive genotyping resources are not available, such as wild progenitors of crops, orphan crops, and other poorly characterized species such as those of ecological interest. © 2015 The Authors The Plant Journal published by Society for Experimental Biology and John Wiley & Sons Ltd.

Reduced dislocation density in Ga xIn 1–xP compositionally graded buffer layers through engineered glide plane switch

DOE PAGES

Schulte, Kevin L.; France, Ryan M.; McMahon, William E.; ...

2016-11-17

In this work we develop control over dislocation glide dynamics in Ga xIn 1-xP compositionally graded buffer layers (CGBs) through control of CuPt ordering on the group-III sublattice. The ordered structure is metastable in the bulk, so any glissile dislocation that disrupts the ordered pattern will release stored energy, and experience an increased glide force. Here we show how this connection between atomic ordering and dislocation glide force can be exploited to control the threading dislocation density (TDD) in Ga xIn 1-xP CGBs. When ordered Ga xIn 1-xP is graded from the GaAs lattice constant to InP, the order parametermore » ..eta.. decreases as x decreases, and dislocation glide switches from one set of glide planes to the other. This glide plane switch (GPS) is accompanied by the nucleation of dislocations on the new glide plane, which typically leads to increased TDD. We develop control of the GPS position within a Ga xIn 1-xP CGB through manipulation of deposition temperature, surfactant concentration, and strain-grading rate. We demonstrate a two-stage Ga xIn 1-xP CGB from GaAs to InP with sufficiently low TDD for high performance devices, such as the 4-junction inverted metamorphic multi-junction solar cell, achieved through careful control the GPS position. Here, experimental results are analyzed within the context of a model that considers the force balance on dislocations on the two competing glide planes as a function of the degree of ordering.« less

Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.

PubMed

Kondo, Daiki; Noguchi, Atsuko; Tamura, Hiroaki; Tsuchida, Satoko; Takahashi, Ikuko; Kubota, Hiroki; Yano, Tamami; Oyama, Chikako; Sawaishi, Yukio; Moriwaki, Shinichi; Takahashi, Tsutomu

2016-07-01

Nucleotide excision repair (NER) is an essential biological pathway protecting against ultraviolet light-induced DNA damage. Deficient NER causes a group of rare genetic disorders including two autosomal recessive diseases, xeroderma pigmentosum (XP) and Cockayne syndrome (CS). In addition to the cutaneous photosensitivity shared in XP and CS, CS is featured by growth failure, neurological deterioration, microcephaly, and deep sunken eyes. XP/CS complex is an extremely rare type of NER disorder with a distinct phenotype that is characterized by the skin and eye pathology of XP and the somatic and neurological abnormalities of CS. Some of CS cases have been reported to be complicated with renal failure, but the genetic background or the etiology of the renal failure has not been reported. We herein report a 1-year-old Japanese boy with XP/CS complex, complicated by nephrotic syndrome. Diagnosis was confirmed by the presence of compound heterozygous mutations, G47R (c.139G>A) and R616G (c.1846C>G), in the excision repair cross-complementation group 2 (ERCC2) gene. The kidney biopsies, performed at the age of 1 year and 2 months, revealed diffuse expansion of the mesangial matrix and segmental glomerulosclerosis under light microscopy, and diffused thin capillary walls with partially lamellated regions under electron microscopy. Notably, high levels of urinary 8-hydroxy-2'-deoxyguanosin, known as an oxidative stress marker, were observed during the clinical course. The patient died at the age of 1 year and 11 months because of renal failure. We suggest the involvement of oxidative stress in the pathogenesis of nephrotic syndrome in NER disorders.

Characterization of a splicing mutation in group A xeroderma pigmentosum

DOE Office of Scientific and Technical Information (OSTI.GOV)

Satokata, Ichiro; Tanaka, Kiyoji; Miura, Naoyuki

1990-12-01

The molecular basis of group A xeroderma pigmentosum (WP) was investigated by comparison of the nucleotide sequences of multiple clones of the XP group A complementing gene (XPAC) from a patient with group A XP with that of a normal gene. The clones showed a G {r arrow} C substitution at the 3{prime} splice acceptor site of intron 3, which altered the obligatory AG acceptor dinucleotide to AC. Nucleotide sequencing of cDNAs amplified by the polymerase chain reaction revealed that this single base substitution abolishes the canonical 3{prime} splice site, thus creating two abnormally spliced mRNA forms. The larger formmore » is identical with normal mRNA except for a dinucleotide deletion at the 5{prime} end of exon 4. This deletion results in a frameshift with premature translation termination in exon 4. The smaller form has a deletion of the entire exon 3 and the dinucleotide at the 5{prime} end of exon 4. The result of a transfection study provided additional evidence that this single base substitution is the disease-causing mutation. This single base substitution creates a new cleavage site for the restriction nuclease AlwNI. Analysis of AlwNI restriction fragment length polymorphism showed a high frequency of this mutation in Japanese patients with group A XP: 16 of 21 unrelated Japanese patients were homozygous and 4 were heterozygous for this mutation. However, 11 Caucasians and 2 Blacks with group A XP did not have this mutant allele. The polymorphic AlwNI restriction fragments are concluded to be useful for diagnosis of group A XP in Japanese subjects, including prenatal cases and carriers.« less

DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient disease.

PubMed

Dupuy, Aurélie; Sarasin, Alain

2015-06-01

Xeroderma pigmentosum (XP) is a genetic disease characterized by hypersensitivity to ultra-violet and a very high risk of skin cancer induction on exposed body sites. This syndrome is caused by germinal mutations on nucleotide excision repair genes. No cure is available for these patients except a complete protection from all types of UV radiations. We reviewed the various techniques to complement or to correct the genetic defect in XP cells. We, particularly, developed the correction of XP-C skin cells using the fidelity of the homologous recombination pathway during repair of double-strand break (DSB) in the presence of XPC wild type sequences. We used engineered nucleases (meganuclease or TALE nuclease) to induce a DSB located at 90 bp of the mutation to be corrected. Expression of specific TALE nuclease in the presence of a repair matrix containing a long stretch of homologous wild type XPC sequences allowed us a successful gene correction of the original TG deletion found in numerous North African XP patients. Some engineered nucleases are sensitive to epigenetic modifications, such as cytosine methylation. In case of methylated sequences to be corrected, modified nucleases or demethylation of the whole genome should be envisaged. Overall, we showed that specifically-designed TALE-nuclease allowed us to correct a 2 bp deletion in the XPC gene leading to patient's cells proficient for DNA repair and showing normal UV-sensitivity. The corrected gene is still in the same position in the human genome and under the regulation of its physiological promoter. This result is a first step toward gene therapy in XP patients. Copyright © 2014 Elsevier B.V. All rights reserved.

Apical extrusion of debris during the preparation of oval root canals: a comparative study between a full-sequence SAF system and a rotary file system supplemented by XP-endo finisher file.

PubMed

Kfir, Anda; Moza-Levi, Rotem; Herteanu, Moran; Weissman, Amir; Wigler, Ronald

2018-03-01

The purpose of this study was to assess the amount of apically extruded debris during the preparation of oval canals with either a rotary file system supplemented by the XP-endo Finisher file or a full-sequence self-adjusting file (SAF) system. Sixty mandibular incisors were randomly assigned to two groups: group A: stage 1-glide path preparation with Pre-SAF instruments. Stage 2-cleaning and shaping with SAF. Group B: stage 1-glide path preparation with ProGlider file. Stage 2-cleaning and shaping with ProTaper Next system. Stage 3-Final cleaning with XP-endo Finisher file. The debris extruded during each of the stages was collected, and the debris weights were compared between the groups and between the stages within the groups using t tests with a significance level set at P < 0.05. The complete procedure for group B resulted in significantly more extruded debris compared to group A. There was no significant difference between the stages in group A, while there was a significant difference between stage 2 and stages 1 and 3 in group B, but no significant difference between stages 1 and 3. Both instrumentation protocols resulted in extruded debris. Rotary file followed by XP-endo Finisher file extruded significantly more debris than a full-sequence SAF system. Each stage, in either procedure, had its own contribution to the extrusion of debris. Final preparation with XP-endo Finisher file contributes to the total amount of extruded debris, but the clinical relevance of the relative difference in the amount of apically extruded debris remains unclear.

Substance P and Calcitonin gene-related peptide expression in human periodontal ligament after root canal preparation with Reciproc Blue, WaveOne Gold, XP EndoShaper and hand files.

PubMed

Caviedes-Bucheli, J; Rios-Osorio, N; Rey-Rojas, M; Laguna-Rivero, F; Azuero-Holguin, M M; Diaz, L E; Curtidor, H; Castaneda-Ramirez, J J; Munoz, H R

2018-05-17

To quantify Substance P (SP) and Calcitonin gene-related peptide (CGRP) expression in healthy human periodontal ligament from premolars after root canal preparation with Reciproc Blue, WaveOne Gold, XP EndoShaper and hand files. A total of 50 human periodontal ligament samples were obtained from healthy mandibular premolars where extraction was indicated for orthodontic reasons. Prior to extraction, 40 of these premolars were equally divided into four groups, and root canals were prepared using four different systems: Reciproc Blue, WaveOne Gold, XP EndoShaper and a hand instrumentation technique. The remaining 10 healthy premolars were extracted without treatment and served as a negative control group. All periodontal ligament samples were processed, and SP and CGRP were measured by radioimmunoassay. The Kruskal-Wallis test was used to establish significant differences between groups and LSD post hoc comparisons were also performed. Greater SP and CGRP values were found in the hand instrumentation group, followed by the XP EndoShaper, WaveOne Gold and the Reciproc groups. The lower SP and CGRP values were for the healthy periodontal ligament group. The Kruskal-Wallis test revealed significant differences between groups (P < 0.05). Post hoc Least Significant Difference (LSD) tests revealed significant differences (P < 0.05) in SP and CGRP expression between all the comparisons except for the Reciproc Blue and WaveOne Gold group (P > 0.05). All the root canal preparation techniques tested increased SP and CGRP expression in human periodontal ligament, with hand files and XP EndoShaper instruments being associated with greater neuropeptide release compared to Reciproc Blue and WaveOne Gold files. © 2018 International Endodontic Journal. Published by John Wiley & Sons Ltd.

Molecular and bioinformatical characterization of a novel superfamily of cysteine-rich peptides from arthropods.

PubMed

Zeng, Xian-Chun; Nie, Yao; Luo, Xuesong; Wu, Shifen; Shi, Wanxia; Zhang, Lei; Liu, Yichen; Cao, Hanjun; Yang, Ye; Zhou, Jianping

2013-03-01

The full-length cDNA sequences of two novel cysteine-rich peptides (referred to as HsVx1 and MmKTx1) were obtained from scorpions. The two peptides represent a novel class of cysteine-rich peptides with a unique cysteine pattern. The genomic sequence of HsVx1 is composed of three exons interrupted by two introns that are localized in the mature peptide encoding region and inserted in phase 1 and phase 2, respectively. Such a genomic organization markedly differs from those of other peptides from scorpions described previously. Genome-wide search for the orthologs of HsVx1 identified 59 novel cysteine-rich peptides from arthropods. These peptides share a consistent cysteine pattern with HsVx1. Genomic comparison revealed extensive intron length differences and intronic number and position polymorphisms among the genes of these peptides. Further analysis identified 30 cases of intron sliding, 1 case of intron gain and 22 cases of intron loss occurred with the genes of the HsVx1 and HsVx1-like peptides. It is interesting to see that three HsVx1-like peptides XP_001658928, XP_001658929 and XP_001658930 were derived from a single gene (XP gene): the former two were generated from alternative splicing; the third one was encoded by a DNA region in the reverse complementary strand of the third intron of the XP gene. These findings strongly suggest that the genes of these cysteine-rich peptides were evolved by intron sliding, intron gain/loss, gene recombination and alternative splicing events in response to selective forces without changing their cysteine pattern. The evolution of these genes is dominated by intron sliding and intron loss. Copyright © 2012 Elsevier Inc. All rights reserved.

European health telematics networks for positron emission tomography

NASA Astrophysics Data System (ADS)

Kontaxakis, George; Pozo, Miguel Angel; Ohl, Roland; Visvikis, Dimitris; Sachpazidis, Ilias; Ortega, Fernando; Guerra, Pedro; Cheze-Le Rest, Catherine; Selby, Peter; Pan, Leyun; Diaz, Javier; Dimitrakopoulou-Strauss, Antonia; Santos, Andres; Strauss, Ludwig; Sakas, Georgios

2006-12-01

A pilot network of positron emission tomography centers across Europe has been setup employing telemedicine services. The primary aim is to bring all PET centers in Europe (and beyond) closer, by integrating advanced medical imaging technology and health telematics networks applications into a single, easy to operate health telematics platform, which allows secure transmission of medical data via a variety of telecommunications channels and fosters the cooperation between professionals in the field. The platform runs on PCs with Windows 2000/XP and incorporates advanced techniques for image visualization, analysis and fusion. The communication between two connected workstations is based on a TCP/IP connection secured by secure socket layers and virtual private network or jabber protocols. A teleconsultation can be online (with both physicians physically present) or offline (via transmission of messages which contain image data and other information). An interface sharing protocol enables online teleconsultations even over low bandwidth connections. This initiative promotes the cooperation and improved communication between nuclear medicine professionals, offering options for second opinion and training. It permits physicians to remotely consult patient data, even if they are away from the physical examination site.

Universal MOSFET parameter analyzer

NASA Astrophysics Data System (ADS)

Klekachev, A. V.; Kuznetsov, S. N.; Pikulev, V. B.; Gurtov, V. A.

2006-05-01

MOSFET analyzer is developed to extract most important parameters of transistors. Instead of routine DC transfer and output characteristics, analyzer provides an evaluation of interface states density by applying charge pumping technique. There are two features that outperform the analyzer among similar products of other vendors. It is compact (100 × 80 × 50 mm 3 in dimensions) and lightweight (< 200 gram) instrument with ultra low power supply (< 2.5 W). The analyzer operates under control of IBM PC by means of USB interface that simultaneously provides power supply. Owing to the USB-compatible microcontroller as the basic element, designed analyzer offers cost-effective solution for diverse applications. The enclosed software runs under Windows 98/2000/XP operating systems, it has convenient graphical interface simplifying measurements for untrained user. Operational characteristics of analyzer are as follows: gate and drain output voltage within limits of +/-10V measuring current range of 1pA ÷ 10 mA; lowest limit of interface states density characterization of ~10 9 cm -2 • eV -1. The instrument was designed on the base of component parts from CYPRESS and ANALOG DEVICES (USA).

Concierge: Personal Database Software for Managing Digital Research Resources

PubMed Central

Sakai, Hiroyuki; Aoyama, Toshihiro; Yamaji, Kazutsuna; Usui, Shiro

2007-01-01

This article introduces a desktop application, named Concierge, for managing personal digital research resources. Using simple operations, it enables storage of various types of files and indexes them based on content descriptions. A key feature of the software is a high level of extensibility. By installing optional plug-ins, users can customize and extend the usability of the software based on their needs. In this paper, we also introduce a few optional plug-ins: literature management, electronic laboratory notebook, and XooNlps client plug-ins. XooNIps is a content management system developed to share digital research resources among neuroscience communities. It has been adopted as the standard database system in Japanese neuroinformatics projects. Concierge, therefore, offers comprehensive support from management of personal digital research resources to their sharing in open-access neuroinformatics databases such as XooNIps. This interaction between personal and open-access neuroinformatics databases is expected to enhance the dissemination of digital research resources. Concierge is developed as an open source project; Mac OS X and Windows XP versions have been released at the official site (http://concierge.sourceforge.jp). PMID:18974800

Domain structure, localization, and function of DNA polymerase η, defective in xeroderma pigmentosum variant cells

PubMed Central

Kannouche, Patricia; Broughton, Bernard C.; Volker, Marcel; Hanaoka, Fumio; Mullenders, Leon H.F.; Lehmann, Alan R.

2001-01-01

DNA polymerase η carries out translesion synthesis past UV photoproducts and is deficient in xeroderma pigmentosum (XP) variants. We report that polη is mostly localized uniformly in the nucleus but is associated with replication foci during S phase. Following treatment of cells with UV irradiation or carcinogens, it accumulates at replication foci stalled at DNA damage. The C-terminal third of polη is not required for polymerase activity. However, the C-terminal 70 aa are needed for nuclear localization and a further 50 aa for relocalization into foci. Polη truncations lacking these domains fail to correct the defects in XP-variant cells. Furthermore, we have identified mutations in two XP variant patients that leave the polymerase motifs intact but cause loss of the localization domains. PMID:11157773

Real-time quantification of xeroderma pigmentosum mRNA from the mammalian cochlea

PubMed Central

Guthrie, O'neil W.; Carrero-Martínez, Franklin A.

2010-01-01

Short Summary Xeroderma pigmentosum (XP) is a genetic disease that results in poor genomic defense from endogenous and exogenous stressors. Patients with mutations in the XPC and XPA genes exhibit cochlear hearing loss and to date, the underlying molecular mechanism is unknown. However, recent evidence suggests that the cochlea experiences persistent oxidative stress under normal conditions. In the current study, XPC and XPA gene products were purified from the cochlea and quantitative polymerase chain reaction was used to study the kinetics and magnitude of their expression. Additionally, immunohistochemistry was used to locate their respective polypeptides in the cochlea. The results revealed a significant demand for XP genes in the mammalian cochlea, which suggest that XP genomic defenses contribute in counterbalancing endogenous stress in the peripheral end-organ under normal conditions. PMID:20539233

Perivascular epithelioid cell tumor (PEComa) of the urinary bladder associated with Xp11 translocation.

PubMed

Russell, Christopher M; Buethe, David D; Dickinson, Shohreh; Sexton, Wade J

2014-01-01

Perivascular epithelioid cell-containing tumors (PEComas) represent a rare family of neoplasms. Their dichotomous phenotypic features, including both myogenic and mylanocytic features, can make a definitive diagnosis difficult. Such tumors have been associated with the overexpression of transcription factor E3 (TFE3). An Xp11 translocation could account for the aberrant activity of TFE3 but has never before been described in affiliation with a PEComa of the urinary bladder. While PEComas of the bladder have exhibited benign clinical courses to date, here we present an intravesical PEComa shown to have an Xp11 translocation and resultant overexpression of TFE3, indicating an aggressive, metastatic nature. No consistent tumor characteristics have proven accurate at identifying aggressive tumors. However, mTOR inhibitors offer a mechanistic management strategy when systemic therapy is warranted.

XVD Image Display Program

NASA Technical Reports Server (NTRS)

Deen, Robert G.; Andres, Paul M.; Mortensen, Helen B.; Parizher, Vadim; McAuley, Myche; Bartholomew, Paul

2009-01-01

The XVD [X-Windows VICAR (video image communication and retrieval) Display] computer program offers an interactive display of VICAR and PDS (planetary data systems) images. It is designed to efficiently display multiple-GB images and runs on Solaris, Linux, or Mac OS X systems using X-Windows.

Kinematical calculations of RHEED intensity oscillations during the growth of thin epitaxial films

NASA Astrophysics Data System (ADS)

Daniluk, Andrzej

2005-08-01

A practical computing algorithm working in real time has been developed for calculating the reflection high-energy electron diffraction (RHEED) from the molecular beam epitaxy (MBE) growing surface. The calculations are based on the use of kinematical diffraction theory. Simple mathematical models are used for the growth simulation in order to investigate the fundamental behaviors of reflectivity change during the growth of thin epitaxial films prepared using MBE. Program summaryTitle of program:GROWTH Catalogue identifier:ADVL Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADVL Program obtainable from: CPC Program Library, Queen's University of Belfast, N. Ireland Distribution format: tar.gz Computer for which the program is designed and others on which is has been tested:Pentium-based PC Operating systems or monitors under which the program has been tested:Windows 9x, XP, NT Programming language used:Object Pascal Memory required to execute with typical data:more than 1 MB Number of bits in a word: 64 bits Number of processors used: 1 Number of lines in distributed program, including test data, etc.: 10 989 Number of bytes in distributed program, including test data, etc.:103 048 Nature of the physical problem:Reflection high-energy electron diffraction (RHEED) is a very useful technique for studying growth and surface analysis of thin epitaxial structures prepared using the molecular beam epitaxy (MBE). The simplest approach to calculating the RHEED intensity during the growth of thin epitaxial films is the kinematical diffraction theory (often called kinematical approximation), in which only a single scattering event is taken into account. The biggest advantage of this approach is that we can calculate RHEED intensity in real time. Also, the approach facilitates intuitive understanding of the growth mechanism and surface morphology [P.I. Cohen, G.S. Petrich, P.R. Pukite, G.J. Whaley, A.S. Arrott, Surf. Sci. 216 (1989) 222]. Method of solution:Epitaxial growth of thin films is modeled by a set of non-linear differential equations [P.I. Cohen, G.S. Petrich, P.R. Pukite, G.J. Whaley, A.S. Arrott, Surf. Sci. 216 (1989) 222]. The Runge-Kutta method with adaptive stepsize control was used for solving initial value problem for non-linear differential equations [W.H. Press, B.P. Flannery, S.A. Teukolsky, W.T. Vetterling, Numerical Recipes in Pascal: The Art of Scientific Computing; first ed., Cambridge University Press, 1989; See also: Numerical Recipes in C++, second ed., Cambridge University Press, 1992]. Typical running time: The typical running time is machine and user-parameters dependent. Unusual features of the program: The program is distributed in the form of a main project Growth.dpr file and an independent Rhd.pas file and should be compiled using Object Pascal compilers, including Borland Delphi.

A Brief Investigation of the Hydrodynamic Characteristics of a 1/13.33-Scale Powered Dynamic Model of a Preliminary Design of the Martin XP6M-1 Flying Boat, TED No. NACA DE-385

NASA Technical Reports Server (NTRS)

Blanchard, Ulysse J.

1953-01-01

The hydrodynamic characteristics of a preliminary design of the Martin XP6M-1 flying boat have been determined. Longitudinal stability during take-off and landing, resistance of the complete model, and behavior during taxiing and landing in rough water are presented.

Diagnostic pitfall on the histological spectrum of adult-onset renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions.

PubMed

Kuroda, Naoto; Katto, Kazunobu; Tanaka, Yukichi; Yamaguchi, Tadanori; Inoue, Kaori; Ohara, Masahiko; Mizuno, Keiko; Hes, Ondrej; Michal, Michal; Lee, Gang-Hong

2010-06-01

Renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion recently has been found. In this article, we demonstrate an unusual features of such a case. A 73-year-old Japanese woman presented with macroscopic hematuria. The imaging examinations disclosed the renal tumor. Histological examination showed the finding of ASPL-TFE3 RCC, which was characterized by papillary, alveolar, or solid growth of voluminous cell with clear and eosinophilic cells, and stromal psammoma body and hyaline nodules. Additionally, shrunken nuclei, thick cell border, and perinuclear clearing characteristic of chromophobe renal cell carcinoma were observed in the alveolar growth area and the transitional zone between stromal hyalinization, and osseous metaplasia was identified. Immunohistochemically, nuclei of tumorous cell were diffusely positive for TFE3. A RT-PCR study revealed the ASPL-TFE3 chimeric transcript. Finally, pathologists should recognize that the histology of RCC associated with Xp11.2 translocation/TFE3 gene fusion may focally resemble that of chromophobe RCC, but TFE3 immunohistochemistry and molecular genetic study may be helpful in the differential diagnosis. Moreover, osseous metaplasia as well as psammoma bodies should be added to the histological spectrum of the stromal change in RCC associated with Xp11.2 translocations/TFE3 gene fusions.

Adult-onset renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusion with smooth muscle stroma and abnormal vessels.

PubMed

Kuroda, Naoto; Tamura, Masato; Tanaka, Yukichi; Hes, Ondrej; Michal, Michal; Inoue, Kaori; Ohara, Masahiko; Mizuno, Keiko; Lee, Gang-Hong

2009-07-01

Renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion has been recently identified. Herein is presented a case of RCC with Xp11.2 translocations/TFE3 gene fusions with unusual histological findings. A 68-year-old Japanese woman was incidentally found to have a renal mass on CT. Histological examination showed clear cell neoplasm with alveolar and papillary growth patterns. The nuclear atypia corresponded to Fuhrman grade 3. Additionally, smooth muscle stroma was observed and abnormal vessels showing a heterogeniety in thickness were also identified. On immunohistochemistry, neoplastic cells were diffusely positive for transcription factor E3 (TFE3) and Melan A, and focally positive for CD10 and RCC marker. The smooth muscle stroma was positive for alpha-smooth muscle actin and h-caldesmon, but reverse transcription-polymerase chain reaction of the tumor using frozen material could not detect any previously reported chimeric transcripts including ASPL-TFE3, PRCC-TFE3, CLTC-TFE3, PSF-TFE3 or NoNo-TFE3. G-band karyotype was unsuccessful. Pathologists should pay attention to the afore-described unusual stromal reaction of adult-onset RCC associated with Xp11.2 translocations/TFE3 gene fusions.

An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report.

PubMed

Yu, Lu; Li, Jun; Xu, Sanpeng; Navia Miranda, Mariajose; Wang, Guoping; Duan, Yaqi

2016-10-12

Xp11.2 translocation/transcription factor E3 (TFE3) rearrangement renal cell carcinoma (RCC) is a rare subtype of RCC with limited clinical and pathological data. Here we present an unusual high-grade Xp11.2 translocation RCC with a rhabdoid feature and SMARCB1 (INI1) inactivation in a 40-year-old man with end-stage kidney disease. The histological examination of the dissected left renal tumor showed an organoid architecture of the eosinophilic or clear neoplastic cells with necrosis and high mitotic activity. In some areas, non-adhesive tumor cells with eccentric nuclei were observed. Immunohistochemically (IHC), the tumor cells are positive for TFE3 and the renal tubular markers (PAX2 and PAX8), and completely negative for SMARCB1, an oncosuppressor protein. Break-apart florescence in situ hybridization and reverse transcription polymerase chain reaction confirmed TFE3 rearrangement on Xp11.2 and the presence of ASPSCR1-TFE3 fusion gene. DNA sequencing revealed a frameshift mutation in exon 4 of SMARCB1 gene. It is important to recognize this rare RCC with both TFE3 rearrangement and SMARCB1 inactivation, as the prognosis and therapeutic strategies, particularly targeted therapies for such tumors, might be different.

XERODERMA PIGMENTOSUM, TRICHOTHIODYSTROPHY AND COCKAYNE SYNDROME: A COMPLEX GENOTYPE-PHENOTYPE RELATIONSHIP

PubMed Central

Kraemer, Kenneth H.; Patronas, Nicholas J.; Schiffmann, Raphael; Brooks, Brian P.; Tamura, Deborah; DiGiovanna, John J.

2008-01-01

Patients with the rare genetic disorders, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) have defects in DNA nucleotide excision repair (NER). The NER pathway involves at least 28 genes. Three NER genes are also part of the basal transcription factor, TFIIH. Mutations in 11 NER genes have been associated with clinical diseases with at least 8 overlapping phenotypes. The clinical features of these patients have some similarities and but also have marked differences. NER is involved in protection against sunlight induced DNA damage. While XP patients have 1000-fold increase in susceptibility to skin cancer, TTD and CS patients have normal skin cancer risk. Several of the genes involved in NER also affect somatic growth and development. Some patients have short stature and immature sexual development. TTD patients have sulfur deficient brittle hair. Progressive sensorineural deafness is an early feature of XP and CS. Many of these clinical diseases are associated with developmental delay and progressive neurological degeneration. The main neuropathology of XP is a primary neuronal degeneration. In contrast, CS and TTD patients have reduced myelination of the brain. These complex neurological abnormalities are not related to sunlight exposure but may be caused by developmental defects as well as faulty repair of DNA damage to neuronal cells induced by oxidative metabolism or other endogenous processes. PMID:17276014

Whole genome detection of signature of positive selection in African cattle reveals selection for thermotolerance.

PubMed

Taye, Mengistie; Lee, Wonseok; Caetano-Anolles, Kelsey; Dessie, Tadelle; Hanotte, Olivier; Mwai, Okeyo Ally; Kemp, Stephen; Cho, Seoae; Oh, Sung Jong; Lee, Hak-Kyo; Kim, Heebal

2017-12-01

As African indigenous cattle evolved in a hot tropical climate, they have developed an inherent thermotolerance; survival mechanisms include a light-colored and shiny coat, increased sweating, and cellular and molecular mechanisms to cope with high environmental temperature. Here, we report the positive selection signature of genes in African cattle breeds which contribute for their heat tolerance mechanisms. We compared the genomes of five indigenous African cattle breeds with the genomes of four commercial cattle breeds using cross-population composite likelihood ratio (XP-CLR) and cross-population extended haplotype homozygosity (XP-EHH) statistical methods. We identified 296 (XP-EHH) and 327 (XP-CLR) positively selected genes. Gene ontology analysis resulted in 41 biological process terms and six Kyoto Encyclopedia of Genes and Genomes pathways. Several genes and pathways were found to be involved in oxidative stress response, osmotic stress response, heat shock response, hair and skin properties, sweat gland development and sweating, feed intake and metabolism, and reproduction functions. The genes and pathways identified directly or indirectly contribute to the superior heat tolerance mechanisms in African cattle populations. The result will improve our understanding of the biological mechanisms of heat tolerance in African cattle breeds and opens an avenue for further study. © 2017 Japanese Society of Animal Science.

Magnetic properties of x(Fe2O3).(100-x)[P2O5.Li2O] and x(Fe2O3).(100-x)[P2O5.CaO] glass systems

NASA Astrophysics Data System (ADS)

Andronache, Constantin; Racolta, Dania; Ardelean, Gheorghe

2017-12-01

Magnetic properties of x(Fe2O3).(100-x)[P2O5 .Li2O] and x(Fe2O3).(100-x)[P2O5 .CaO] with 0 < x ≤ 50 mol % were investigated using magnetic susceptibility measurements. The both glass systems were prepared in the same condition. The valence states and the distribution of iron ions in the glass matrix depend on the Fe2O3 content. For the P2O5.CaO glass matrix with x≤35mol%, the data revealed iron ions as isolated or participating in dipole-dipole interaction. For x > 35 mol% an antiferromagnetic coupling is observed. For the P2O5.Li2O glass matrix, the iron ions behave magnetically similarly as in other oxide glasses, but concentration of Fe2O3 over which magnetic superexchange interactions occur is lower. The absolute magnitude of θp values increases when content of Fe2O3 are increased. If the content of the magnetic ions is increased in the glass, the exchange integral increased and as a result the magnitude of the θP increases.

Preliminary Evaluation of the Low-Speed Stability and Control Characteristics of the McDonnell XP-85 Airplane from Tests of an Unballasted 1/5-Scale Model in the Langley Free-Flight Tunnel

NASA Technical Reports Server (NTRS)

Paulson, John W.; Johnson, Joseph L.

1947-01-01

At the request of the Air Material Command, Army Air Forces an investigation of the low-speed, power-off stability and control characteristics of the McDonnell XP-85 airplane is being conducted in the Langley free-flight tunnel. The XP-85 airplane is a jet propelled, parasite fighter with a 34 deg sweepback at the wing quarter chord. It was designed to be carried in a bomb bay of the B-36 air plane. The first portion of the investigation consists of a preliminary evaluation of the stability and control characteristics of the airplane from force and fight tests of an unballasted 1/5-scale model. The second portion of the investigation consists of test of a properly balasted 1/10-scale model which will include a study of the stability of the Xp-85 when attached to the trapeze for retraction into the B-36 bomb bay. The results of the preliminary test with the 1/5-scale model are presented herein. This portion fo the investigation included tests of the model with various center fin arrangements. Both the design nose flap and a stall control vane were investigated.

APSE(Ada Programming Support Environment) Interactive Monitor. User’s Manual Ada (trademark) Version.

DTIC Science & Technology

1988-01-01

name: WINDOWA. Command: CREATE OBJECTTYPE => WINDOW WINDOW B - Create a window named tm WINDOWB. I g i I I A-B 3 I PAGE TERMINAL TUTORIA ’ 3 SESSION i...interpreter. I I I I I A- 98I U I PAGE TERMINAL TUTORIA - SESSION 4 - WINDOW RELATED COMMANDS GOTO WINDOWB AIM AIM AIM CLI Running AFIO AIM> ASSOC WINDOW C...context to the AIM window in order tc communicate with the AIM command interpreter. 3 I I I A-100O U I PAGE TERMINAL TUTORIA ’ SESSION 4 - WINDOW

THERMINATOR: THERMal heavy-IoN generATOR

NASA Astrophysics Data System (ADS)

Kisiel, Adam; Tałuć, Tomasz; Broniowski, Wojciech; Florkowski, Wojciech

2006-04-01

THERMINATOR is a Monte Carlo event generator designed for studying of particle production in relativistic heavy-ion collisions performed at such experimental facilities as the SPS, RHIC, or LHC. The program implements thermal models of particle production with single freeze-out. It performs the following tasks: (1) generation of stable particles and unstable resonances at the chosen freeze-out hypersurface with the local phase-space density of particles given by the statistical distribution factors, (2) subsequent space-time evolution and decays of hadronic resonances in cascades, (3) calculation of the transverse-momentum spectra and numerous other observables related to the space-time evolution. The geometry of the freeze-out hypersurface and the collective velocity of expansion may be chosen from two successful models, the Cracow single-freeze-out model and the Blast-Wave model. All particles from the Particle Data Tables are used. The code is written in the object-oriented c++ language and complies to the standards of the ROOT environment. Program summaryProgram title:THERMINATOR Catalogue identifier:ADXL_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADXL_v1_0 Program obtainable from: CPC Program Library, Queen's University of Belfast, N. Ireland RAM required to execute with typical data:50 Mbytes Number of processors used:1 Computer(s) for which the program has been designed: PC, Pentium III, IV, or Athlon, 512 MB RAM not hardware dependent (any computer with the c++ compiler and the ROOT environment [R. Brun, F. Rademakers, Nucl. Instrum. Methods A 389 (1997) 81, http://root.cern.ch] Operating system(s) for which the program has been designed:Linux: Mandrake 9.0, Debian 3.0, SuSE 9.0, Red Hat FEDORA 3, etc., Windows XP with Cygwin ver. 1.5.13-1 and gcc ver. 3.3.3 (cygwin special)—not system dependent External routines/libraries used: ROOT ver. 4.02.00 Programming language:c++ Size of the package: (324 KB directory 40 KB compressed distribution archive), without the ROOT libraries (see http://root.cern.ch for details on the ROOT [R. Brun, F. Rademakers, Nucl. Instrum. Methods A 389 (1997) 81, http://root.cern.ch] requirements). The output files created by the code need 1.1 GB for each 500 events. Distribution format: tar gzip file Number of lines in distributed program, including test data, etc.: 6534 Number of bytes in ditribution program, including test data, etc.:41 828 Nature of the physical problem: Statistical models have proved to be very useful in the description of soft physics in relativistic heavy-ion collisions [P. Braun-Munzinger, K. Redlich, J. Stachel, 2003, nucl-th/0304013. [2

Determination of design and operation parameters for upper atmospheric research instrumentation to yield optimum resolution with deconvolution, appendix 4

NASA Technical Reports Server (NTRS)

Ioup, George E.; Ioup, Juliette W.

1989-01-01

The power spectrum for a stationary random process can be defined with the Wiener-Khintchine Theorem, which says that the power spectrum and the auto correlation function are a Fourier transform pair. To implement this theorem for signals that are discrete and of finite length we can use the Blackman-Tukey method. Blackman and Tukey (1958) show that a function w(tau), called a lag window, can be applied to the auto correlation estimates to obtain power spectrum estimates that are statistically stable. The Fourier transform of w(r) is called a spectral window. Typical choices for spectral windows show a distinct trade-off between the main lobe width and side lobe strength. A new idea for designing windows by taking linear combinations of the standard windows to produce hybrid windows was introduced by Smith (1985). We implement Smith's idea to obtain spectral windows with narrow main lobes and smaller (compared with typical windows) near side lobes. One of the main contributions of this thesis is that we show that Smith's problem is equivalent to a Quadratic Programming (QP) problem with linear equality and inequality constraints. A computer program was written to produce hybrid windows by setting up and solving the QP problem. We also developed and solved two variations of the original problem. The two variations involved changing the inequality constraints in both cases from non negativity on the combination coefficients to non negativity on the hybrid lag window itself. For the second variation, the window functions used to construct the hybrid window were changed to a frequency-variable set of truncated cosinusoids. A series of tests was run with the three computer programs to investigate the behavior of the hybrid spectral and lag windows. Emphasis was put on obtaining spectral windows with both relatively narrow main lobes and the lowest possible (for these algorithms) near side lobes. Some success was achieved for this goal. A 10 dB peak side lobe reduction over the rectangular spectral window without significant main lobe broadening was achieved. Also, average side lobe levels of -117 dB were reached at a cost of doubling the main lobe width (at the -3 dB point).

DataViewer3D: An Open-Source, Cross-Platform Multi-Modal Neuroimaging Data Visualization Tool

PubMed Central

Gouws, André; Woods, Will; Millman, Rebecca; Morland, Antony; Green, Gary

2008-01-01

Integration and display of results from multiple neuroimaging modalities [e.g. magnetic resonance imaging (MRI), magnetoencephalography, EEG] relies on display of a diverse range of data within a common, defined coordinate frame. DataViewer3D (DV3D) is a multi-modal imaging data visualization tool offering a cross-platform, open-source solution to simultaneous data overlay visualization requirements of imaging studies. While DV3D is primarily a visualization tool, the package allows an analysis approach where results from one imaging modality can guide comparative analysis of another modality in a single coordinate space. DV3D is built on Python, a dynamic object-oriented programming language with support for integration of modular toolkits, and development of cross-platform software for neuroimaging. DV3D harnesses the power of the Visualization Toolkit (VTK) for two-dimensional (2D) and 3D rendering, calling VTK's low level C++ functions from Python. Users interact with data via an intuitive interface that uses Python to bind wxWidgets, which in turn calls the user's operating system dialogs and graphical user interface tools. DV3D currently supports NIfTI-1, ANALYZE™ and DICOM formats for MRI data display (including statistical data overlay). Formats for other data types are supported. The modularity of DV3D and ease of use of Python allows rapid integration of additional format support and user development. DV3D has been tested on Mac OSX, RedHat Linux and Microsoft Windows XP. DV3D is offered for free download with an extensive set of tutorial resources and example data. PMID:19352444

SteamTablesGrid: An ActiveX control for thermodynamic properties of pure water

NASA Astrophysics Data System (ADS)

Verma, Mahendra P.

2011-04-01

An ActiveX control, steam tables grid ( StmTblGrd) to speed up the calculation of the thermodynamic properties of pure water is developed. First, it creates a grid (matrix) for a specified range of temperature (e.g. 400-600 K with 40 segments) and pressure (e.g. 100,000-20,000,000 Pa with 40 segments). Using the ActiveX component SteamTables, the values of selected properties of water for each element (nodal point) of the 41×41 matrix are calculated. The created grid can be saved in a file for its reuse. A linear interpolation within an individual phase, vapor or liquid is implemented to calculate the properties at a given value of temperature and pressure. A demonstration program to illustrate the functionality of StmTblGrd is written in Visual Basic 6.0. Similarly, a methodology is presented to explain the use of StmTblGrd in MS-Excel 2007. In an Excel worksheet, the enthalpy of 1000 random datasets for temperature and pressure is calculated using StmTblGrd and SteamTables. The uncertainty in the enthalpy calculated with StmTblGrd is within ±0.03%. The calculations were performed on a personal computer that has a "Pentium(R) 4 CPU 3.2 GHz, RAM 1.0 GB" processor and Windows XP. The total execution time for the calculation with StmTblGrd was 0.3 s, while it was 60.0 s for SteamTables. Thus, the ActiveX control approach is reliable, accurate and efficient for the numerical simulation of complex systems that demand the thermodynamic properties of water at several values of temperature and pressure like steam flow in a geothermal pipeline network.

LACIE performance predictor final operational capability program description, volume 1

NASA Technical Reports Server (NTRS)

1976-01-01

The program EPHEMS computes the orbital parameters for up to two vehicles orbiting the earth for up to 549 days. The data represents a continuous swath about the earth, producing tables which can be used to determine when and if certain land segments will be covered. The program GRID processes NASA's climatology tape to obtain the weather indices along with associated latitudes and longitudes. The program LUMP takes substrata historical data and sample segment ID, crop window, crop window error and statistical data, checks for valid input parameters and generates the segment ID file, crop window file and the substrata historical file. Finally, the System Error Executive (SEE) Program checks YES error and truth data, CAMS error data, and signature extension data for validity and missing elements. A message is printed for each error found.

Control of hay-scented and New York ferns with Oust Xp® herbicide: Revisiting rate and timing required in mixed oak and northern hardwood stands

Treesearch

Todd E. Ristau

2017-01-01

Dense rhizomatous fern layers compete with desirable tree seedlings for light, which suppresses development and even kills seedlings. Sulfometuron methyl (Oust XP®) herbicide can be safely and effectively used to control ferns. Previous research showed that depending on application timing, as little as 2 ounces of Oust XP per acre controlled ferns while hardwood tree...

Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.

PubMed

Liao, Hsiao-Mei; Niu, Dau-Ming; Chen, Yan-Jang; Fang, Jye-Siung; Chen, Shih-Jen; Chen, Chia-Hsiang

2011-01-01

Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital cataracts, dental anomalies and mental retardation. The disease has been linked to a novel gene termed NHS located at Xp22.13. The majority of pathogenic mutations of the disease include nonsense mutations and small deletions and insertions that lead to truncation of the NHS protein. In this study, we identified a microdeletion of ∼ 0.92 Mb at Xp22.13 detected by array-based comparative genomic hybridization in two brothers presenting congenital cataract, dental anomalies, facial dysmorphisms and mental retardation. The deleted region encompasses the REPS2, NHS, SCML1 and RAI2 genes, and was transmitted from their carrier mother who presented only mild cataract. Our findings are in line with several recent case reports to indicate that genomic rearrangement involving the NHS gene is an important genetic etiology underlying NHS.

Microwave Workshop for Windows.

ERIC Educational Resources Information Center

White, Colin

1998-01-01

"Microwave Workshop for Windows" consists of three programs that act as teaching aid and provide a circuit design utility within the field of microwave engineering. The first program is a computer representation of a graphical design tool; the second is an accurate visual and analytical representation of a microwave test bench; the third…

Mind the Gap: Summary of Window Residential Retrofit Solutions

DOE Office of Scientific and Technical Information (OSTI.GOV)

Petersen, Joseph M.; Cort, Katherine A.; Widder, Sarah H.

Improving the insulation, solar heat gain, and infiltration characteristics of windows in a home has the potential to significantly improve the overall thermal performance by reducing heat transfer through the window and also by decreasing infiltration of outdoor air into the home. As approximately 43% of existing homes still have single-pane clear windows (~50 million houses) and millions of other homes have only double-pane clear windows (Cort 2013), improving window performance also presents a significant opportunity for energy savings in the residential sector. Today, various energy-saving window retrofit opportunities are available to homeowners, ranging from window coverings and storm panelsmore » to highly-insulating triple-pane R-5 window replacements. Many of these technologies have been evaluated in the field, in the “Lab Homes” at Pacific Northwest National Laboratory, and through modeling to prove their cost-effectiveness and performance in different climate regions. Recently, the Pacific Northwest’s Regional Technical Forum approved a utility measure for low- emissivity storm windows based on such data. This action represents a watershed moment for increasing the variety and prevalence of fenestration options in utility programs, especially for the low-income demographic. This paper will review various window retrofit options, the most recent field test and modeling data regarding their performance and cost-effectiveness, and discuss future rating efforts. This information is useful for utilities and energy-efficiency program managers to help effectively implement incentive measures for these technologies.« less

Clinical characteristics of XP11.2 translocation/TFE3 gene fusion renal cell carcinoma: a systematic review and meta-analysis of observational studies.

PubMed

Cheng, Xiangming; Gan, Weidong; Zhang, Gutian; Li, Xiaogong; Guo, Hongqian

2016-07-11

Renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 RCC) is a rare subtype of RCC which is firstly described as a distinct entity in 2004 so that clinical characteristics of Xp11.2 RCC in different gender and age are unknown. The purpose of systematic review and meta-analysis is to provide a comprehensive assessment on them. MEDLINE, EMBASE and Cochrane databases were searched for studies which evaluate the clinical characteristics of Xp11.2 RCC. The literature published between July 2004 and May 2014 was searched. A total of 15 studies with 147 participants were included. The meta-analysis demonstrated that number of patients of all age in female was higher than in male with pooled OR of 3.93(95 % CI = 1.66-9.34). However, incidence of distant metastases (OR = 0.34, 95 % CI = 0.12-1.57) and lymphatic metastases (OR = 0.51, 95 % CI = 0.14-1.91), tumor stage (OR = 0.85, 95 % CI = 0.34-2.15) and overall survival (OS) (OR = 0.46, 95 % CI = 0.05-4.34) between male and female were comparable. Incidence in female was higher than in male with pooled OR of 5.13(95 % CI = 1.67-15.72) in adults, while in children no gender-related predominance (OR = 1.19, 95 % CI = 0.38-3.72) was observed. In addition, incidence of distant metastases (OR = 1.00, 95 % CI = 0.13-7.84) and lymphatic metastases (OR = 1.00, 95 % CI = 0.07-13.67) and tumor stage (OR = 1.94, 95 % CI = 0.20-19.03) between children and adults were comparable. Survival curves presented comparable outcomes between male and female (P = 0.707) as well as between children and adults (P = 0.383). Female patients with Xp11.2 RCC in adults exhibit a high incidence compared to male, but not in children. Comparable clinical characteristics including incidence of distant and lymphatic metastases, tumor stage and prognosis is presented between male and female as well as between children and adults.

Renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions: findings on MRI and computed tomography imaging.

PubMed

Liu, Kefu; Xie, Ping; Peng, Weijun; Zhou, Zhengrong

2014-08-01

To retrospectively analyze MRI and computed tomographic (CT) findings from renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions (Xp11-RCC). Institutional review board permission was obtained to review patient medical records, and the requirement for informed consent was waved . The clinical and MRI/CT features of five cases with Xp11-RCC that were confirmed by pathology were analyzed retrospectively. The image characteristics included the lesion location and size, contribution of cystic and solid components, intratumoral necrosis or hemorrhage, invasion of perinephric tissue and renal sinus, lymphadenopathy, major venous or arterial vascular invasion, pattern of the tumor growth, intratumor calcification and lipids, homogeneity of SI on T2-weighted images, attenuation and SI of the mass with respect to the normal renal cortex on precontrast and contrasted CT/MRI images, tumor SIs, tumor attenuations and tumor-to-cortex indices, homogeneity of enhancement on the contrasted images. The mean age was 32 years (range, 15-47 years). Most patients (4/5) were women. All tumors showed a cortical location. The average tumor size was 9 cm (range, 4-18 cm). Four tumors comprised a predominantly solid lesion with focal necrosis, and one tumor comprised a solid lesion with significant necrosis. All tumors showed intertumor hemorrhage, infiltrative growth and invasion of the perirenal adipose/renal sinus. Four cases showed retroperitoneal lymphadenopathy, of which one case showed simultaneous mediastinal and supraclavicular lymphadenopathy. All tumors from four cases showed mild hyperintensity on T1-weighted MRI images, and three tumors showed hypointensity on T2-weighted MRI images relative to the renal cortex except for 1 tumor that showed significant hemorrhage and a relative hyperintensity. For 3 cases who were imaged with CT, two tumors imaged using nonenhanced CT images showed mild hyperdensity relative to the renal cortex. Calcification was noted in all three tumors. All tumors showed mild, persistent enhancement. Typical Xp11-RCC manifests as an advanced, solid renal mass with mild persistent enhancement, a prevalence of intertumor hemorrhage/calcification, and a cortical epicenter location. The predilection for children and young adults is a useful clinical feature when confirming a diagnosis of Xp11-RCC. © 2013 Wiley Periodicals, Inc.

Xeroderma pigmentosum.

PubMed

Lehmann, Alan R; McGibbon, David; Stefanini, Miria

2011-11-01

Xeroderma pigmentosum (XP) is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly elevated incidence of skin cancers. It is a rare autosomal recessive disorder and has been found in all continents and racial groups. Estimated incidences vary from 1 in 20, 000 in Japan to 1 in 250, 000 in the USA, and approximately 2.3 per million live births in Western Europe.The first features are either extreme sensitivity to sunlight, triggering severe sunburn, or, in patients who do not show this sun-sensitivity, abnormal lentiginosis (freckle-like pigmentation due to increased numbers of melanocytes) on sun-exposed areas. This is followed by areas of increased or decreased pigmentation, skin aging and multiple skin cancers, if the individuals are not protected from sunlight. A minority of patients show progressive neurological abnormalities. There are eight XP complementation groups, corresponding to eight genes, which, if defective, can result in XP. The products of these genes are involved in the repair of ultraviolet (UV)-induced damage in DNA. Seven of the gene products (XPA through G) are required to remove UV damage from the DNA. The eighth (XPV or DNA polymerase η) is required to replicate DNA containing unrepaired damage. There is wide variability in clinical features both between and within XP groups. Diagnosis is made clinically by the presence, from birth, of an acute and prolonged sunburn response at all exposed sites, unusually early lentiginosis in sun-exposed areas or onset of skin cancers at a young age. The clinical diagnosis is confirmed by cellular tests for defective DNA repair. These features distinguish XP from other photodermatoses such as solar urticaria and polymorphic light eruption, Cockayne Syndrome (no pigmentation changes, different repair defect) and other lentiginoses such as Peutz-Jeghers syndrome, Leopard syndrome and Carney complex (pigmentation not sun-associated), which are inherited in an autosomal dominant fashion. Antenatal diagnosis can be performed by measuring DNA repair or by mutation analysis in CVS cells or in amniocytes. Although there is no cure for XP, the skin effects can be minimised by rigorous protection from sunlight and early removal of pre-cancerous lesions. In the absence of neurological problems and with lifetime protection against sunlight, the prognosis is good. In patients with neurological problems, these are progressive, leading to disabilities and a shortened lifespan.

Variability in the vacuum-ultraviolet transmittance of magnesium fluoride windows. [for Space Telescope Imaging Spectrograph

NASA Technical Reports Server (NTRS)

Herzig, Howard; Fleetwood, Charles M., Jr.; Toft, Albert R.

1992-01-01

Sample window materials tested during the development of a domed magnesium fluoride detector window for the Hubble Space Telescope's Imaging Spectrograph are noted to exhibit wide variability in VUV transmittance; a test program was accordingly instituted to maximize a prototype domed window's transmittance. It is found that VUV transmittance can be maximized if the boule from which the window is fashioned is sufficiently large to allow such a component to be cut from the purest available portion of the boule.

DFMSPH14: A C-code for the double folding interaction potential of two spherical nuclei

NASA Astrophysics Data System (ADS)

Gontchar, I. I.; Chushnyakova, M. V.

2016-09-01

This is a new version of the DFMSPH code designed to obtain the nucleus-nucleus potential by using the double folding model (DFM) and in particular to find the Coulomb barrier. The new version uses the charge, proton, and neutron density distributions provided by the user. Also we added an option for fitting the DFM potential by the Gross-Kalinowski profile. The main functionalities of the original code (e.g. the nucleus-nucleus potential as a function of the distance between the centers of mass of colliding nuclei, the Coulomb barrier characteristics, etc.) have not been modified. Catalog identifier: AEFH_v2_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEFH_v2_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland. Licensing provisions: GNU General Public License, version 3 No. of lines in distributed program, including test data, etc.: 7211 No. of bytes in distributed program, including test data, etc.: 114404 Distribution format: tar.gz Programming language: C Computer: PC and Mac Operation system: Windows XP and higher, MacOS, Unix/Linux Memory required to execute with typical data: below 10 Mbyte Classification: 17.9 Catalog identifier of previous version: AEFH_v1_0 Journal reference of previous version: Comp. Phys. Comm. 181 (2010) 168 Does the new version supersede the previous version?: Yes Nature of physical problem: The code calculates in a semimicroscopic way the bare interaction potential between two colliding spherical nuclei as a function of the center of mass distance. The height and the position of the Coulomb barrier are found. The calculated potential is approximated by an analytical profile (Woods-Saxon or Gross-Kalinowski) near the barrier. Dependence of the barrier parameters upon the characteristics of the effective NN forces (like, e.g. the range of the exchange part of the nuclear term) can be investigated. Method of solution: The nucleus-nucleus potential is calculated using the double folding model with the Coulomb and the effective M3Y NN interactions. For the direct parts of the Coulomb and the nuclear terms, the Fourier transform method is used. In order to calculate the exchange parts, the density matrix expansion method is applied. Typical running time: less than 1 minute. Reason for new version: Many users asked us how to implement their own density distributions in the DFMSPH. Now this option has been added. Also we found that the calculated Double-Folding Potential (DFP) is approximated more accurately by the Gross-Kalinowski (GK) profile. This option has been also added.

Distinctive features of single nucleotide alterations in induced pluripotent stem cells with different types of DNA repair deficiency disorders

PubMed Central

Okamura, Kohji; Sakaguchi, Hironari; Sakamoto-Abutani, Rie; Nakanishi, Mahito; Nishimura, Ken; Yamazaki-Inoue, Mayu; Ohtaka, Manami; Periasamy, Vaiyapuri Subbarayan; Alshatwi, Ali Abdullah; Higuchi, Akon; Hanaoka, Kazunori; Nakabayashi, Kazuhiko; Takada, Shuji; Hata, Kenichiro; Toyoda, Masashi; Umezawa, Akihiro

2016-01-01

Disease-specific induced pluripotent stem cells (iPSCs) have been used as a model to analyze pathogenesis of disease. In this study, we generated iPSCs derived from a fibroblastic cell line of xeroderma pigmentosum (XP) group A (XPA-iPSCs), a rare autosomal recessive hereditary disease in which patients develop skin cancer in the areas of skin exposed to sunlight. XPA-iPSCs exhibited hypersensitivity to ultraviolet exposure and accumulation of single-nucleotide substitutions when compared with ataxia telangiectasia-derived iPSCs that were established in a previous study. However, XPA-iPSCs did not show any chromosomal instability in vitro, i.e. intact chromosomes were maintained. The results were mutually compensating for examining two major sources of mutations, nucleotide excision repair deficiency and double-strand break repair deficiency. Like XP patients, XPA-iPSCs accumulated single-nucleotide substitutions that are associated with malignant melanoma, a manifestation of XP. These results indicate that XPA-iPSCs may serve a monitoring tool (analogous to the Ames test but using mammalian cells) to measure single-nucleotide alterations, and may be a good model to clarify pathogenesis of XP. In addition, XPA-iPSCs may allow us to facilitate development of drugs that delay genetic alteration and decrease hypersensitivity to ultraviolet for therapeutic applications. PMID:27197874

Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients

PubMed Central

Ueda, Takahiro; Compe, Emmanuel; Catez, Philippe; Kraemer, Kenneth H.

2009-01-01

Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in the rare recessive genetic disorder xeroderma pigmentosum (XP). Many XP patients are compound heterozygotes with a “causative” XPD point mutation R683W and different second mutant alleles, considered “null alleles.” However, there is marked clinical heterogeneity (including presence or absence of skin cancers or neurological degeneration) in these XPD/R683W patients, thus suggesting a contribution of the second allele. Here, we report XP patients carrying XPD/R683W and a second XPD allele either XPD/Q452X, /I455del, or /199insPP. We performed a systematic study of the effect of these XPD mutations on several enzymatic functions of TFIIH and found that each mutation exhibited unique biochemical properties. Although all the mutations inhibited the nucleotide excision repair (NER) by disturbing the XPD helicase function, each of them disrupted specific molecular steps during transcription: XPD/Q452X hindered the transactivation process, XPD/I455del disturbed RNA polymerase II phosphorylation, and XPD/199insPP inhibited kinase activity of the cdk7 subunit of TFIIH. The broad range and severity of clinical features in XP patients arise from a broad set of deficiencies in NER and transcription that result from the combination of mutations found on both XPD alleles. PMID:19934020

Verification of Bioanalytical Method for Quantification of Exogenous Insulin (Insulin Aspart) by the Analyser Advia Centaur® XP.

PubMed

Mihailov, Rossen; Stoeva, Dilyana; Pencheva, Blagovesta; Pentchev, Eugeni

2018-03-01

In a number of cases the monitoring of patients with type I diabetes mellitus requires measurement of the exogenous insulin levels. For the purpose of a clinical investigation of the efficacy of a medical device for application of exogenous insulin aspart, a verification of the method for measurement of this synthetic analogue of the hormone was needed. The information in the available medical literature for the measurement of the different exogenous insulin analogs is insufficient. Thus, verification was required to be in compliance with the active standards in Republic of Bulgaria. A manufactured method developed for ADVIA Centaur XP Immunoassay, Siemens Healthcare, was used which we verified using standard solutions and a patient serum pool by adding the appropriate quantity exogenous insulin aspart. The method was verified in accordance with the bioanalytical method verification criteria and regulatory requirements for using a standard method: CLIA chemiluminescence immunoassay ADVIA Centaur® XP. The following parameters are determined and monitored: intra-day precision and accuracy, inter-day precision and accuracy, limit of detection and lower limit of quantification, linearity, analytical recovery. The routine application of the method for measurement of immunoreactive insulin using the analyzer ADVIA Centaur® XP is directed to the measurement of endogenous insulin. The method is applicable for measuring different types of exogenous insulin, including insulin aspart.

Biological characteristics of pediatric renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions.

PubMed

Song, Hong Cheng; Sun, Ning; Zhang, Wei Ping; He, LeJian; Fu, Libing; Huang, ChengRu

2014-04-01

To investigate the clinical features of pediatric Xp11.2 translocation renal cell carcinoma (RCC). A retrospective review of 22 cases over 35 years. Xp11.2 translocation RCCs were identified in 13 boys and 9 girls with a median age of 10.5 years (range: 2.5-16 years). RCC presented with hematuria in 17, abdominal mass in 1, abdominal masses with hematuria in 2, abdominal pain with hematuria in 1, and as an incidental finding in 1 patient. Ten patients were classified stage I, 10 were stage III, and two were stage IV. Of the 10 patients with stage I RCCs, 3 patients with tumor measuring less than 7 cm had nephron-sparing surgery (NSS) and 17 patients underwent simple nephrectomy. A 15-cm tumor was incompletely removed in one patient and another patient with a 25-cm × 18-cm × 15-cm tumor had gross residual. Of the 15 patients followed up between 6 months and 35 years, 13 were still living and 2 had died after surgery. Xp11.2 translocation RCC is the predominant form of pediatric RCC, associated with advanced stage at presentation. Nephrectomy is the usual treatment for RCC but NSS is an option for patients with tumors measuring<7 cm. Patients with N+M0 maintained a favorable prognosis following surgery alone. © 2014.

Renal cell carcinoma in children and young adults: analysis of clinicopathological, immunohistochemical and molecular characteristics with an emphasis on the spectrum of Xp11.2 translocation-associated and unusual clear cell subtypes.

PubMed

Wu, A; Kunju, L P; Cheng, L; Shah, R B

2008-11-01

Recent studies suggest that paediatric renal cell carcinoma (RCC) may represent a distinct group of tumours; however, its biological behaviour and classification remain poorly understood. The aim was to analyse 13 RCCs from patients < or =23 years of age to determine their clinicopathological, immunohistochemical and molecular characteristics. The histological spectrum included: Xp11.2 translocation-associated (6/13 patients, 46%), clear cell (5/13 patients, 38%), papillary (1/13 patients) and unclassified (1/13 patients) types. The Xp11.2 translocation-associated RCCs had a wide morphological spectrum, with high nuclear grade cells with abundant cytoplasm ranging from clear to granular and architecture ranging from solid to papillary. These tumours lacked cytokeratin expression and were confirmed by nuclear reactivity for TFE3 protein. Most of these translocation-associated tumours presented at high stage and had an unfavourable outcome. Three clear cell RCCs had unusual features that have not been previously characterized, including solid and cystic architecture, cells with abundant eosinophilic cytoplasm yet low nuclear grade and focal cytoplasmic inclusions, resembling oncocytoma. Deletion of subtelomeric 3p25 was observed in two of these RCCs. Xp11.2 translocation-associated RCC represents a predominant and aggressive subtype in the paediatric age group. Increased awareness of this subtype is important due to its heterogeneous morphology.

Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.

PubMed

Tamhankar, Parag M; Iyer, Shruti V; Ravindran, Shyla; Gupta, Neerja; Kabra, Madhulika; Nayak, Chitra; Kura, Mahendra; Sanghavi, Swapnil; Joshi, Rajesh; Chennuri, Vasundhara Sridhar; Khopkar, Uday

2015-01-01

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by cutaneous and ocular photosensitivity and an increased risk of developing cutaneous neoplasms. Progressive neurological abnormalities develop in a quarter of XP patients. To study the clinical profile and perform a mutation analysis in Indian patients with xeroderma pigmentosum. Ten families with 13 patients with XP were referred to our clinic over 2 years. The genes XPA, XPB and XPC were sequentially analyzed till a pathogenic mutation was identified. Homozygous mutations in the XPA gene were seen in patients with moderate to severe mental retardation (6/10 families) but not in those without neurological features. Two unrelated families with a common family name and belonging to the same community from Maharashtra were found to have an identical mutation in the XPA gene, namely c.335_338delTTATinsCATAAGAAA (p.F112SfsX2). Testing of the XPC gene in two families with four affected children led to the identification of the novel mutations c.1243C>T or p.R415X and c.1677C>A or p.Y559X. In two families, mutations could not be identified in XPA, XPB and XPC genes. The sample size is small. Indian patients who have neurological abnormalities associated with XP should be screened for mutations in the XPA gene.

DNA repair kinetic of hydrogen peroxide and UVA/B induced lesions in peripheral blood leucocytes from xeroderma pigmentosum patients and healthy subjects.

PubMed

Gonzalez, Elio A Prieto; Mudry, Marta D; Palermo, Ana Maria

2014-01-01

The objective of the present work was to study the fine kinetics of DNA repair in xeroderma pigmentosum (XP) syndrome, a complex disorder linked to a deficiency in repair that increases cancer susceptibility. The repair process was evaluated by the comet assay (CA) in cells from 2 XP patients and 9 controls exposed to UVA/B (UVA 366/UVB 280 nm) and H2O2 (150 μM) at temperatures of 4, 15, and 37°C. Samples were taken at 2-min intervals during the first 10 min to analyze the "fine kinetics" repair during the initial phase of the curve, and then at 15, 20, 25, 30, 45, 60, and 120 min. CA evaluation of DNA repair activity points to BER/NER initiation in the first 30 min with both inductors at 37°C and 15°C, but final comet length showed differences according to treatment. Repair kinetics during 120 min showed a good correlation with clinical features in both XP patients. Differences in final comet length were less pronounced in XP cells treated with H2O2 than with UVA/B, probably because the peroxide produces mainly base oxidation but less bulky lesions; UVA/B generates a mixture of both. These findings reinforce the value of CA in testing in DNA repair ability or exposure monitoring.

Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.

PubMed

Kuschal, Christiane; Khan, Sikandar G; Enk, Benedikt; DiGiovanna, John J; Kraemer, Kenneth H

2015-04-01

Readthrough of premature termination (stop) codons (PTC) is a new approach to treatment of genetic diseases. We recently reported that readthrough of PTC in cells from some xeroderma pigmentosum complementation group C (XP-C) patients could be achieved with the aminoglycosides geneticin or gentamicin. We found that the response depended on several factors including the PTC sequence, its location within the gene and the aminoglycoside used. Here, we extended these studies to investigate the effects of other aminoglycosides that are already on the market. We reasoned that topical treatment could deliver much higher concentrations of drug to the skin, the therapeutic target, and thus increase the therapeutic effect while reducing renal or ototoxicity in comparison with systemic treatment. Our prior clinical studies indicated that only a few percent of normal XPC expression was associated with mild clinical disease. We found minimal cell toxicity in the XP-C cells with several aminoglycosides. We found increased XPC mRNA expression in PTC-containing XP-C cells with G418, paromomycin, neomycin and kanamycin and increased XPC protein expression with G418. We conclude that in selected patients with XP, topical PTC therapy can be investigated as a method of personalized medicine to alleviate their cutaneous symptoms. Published 2015. This article is a U.S. Government work and is in the public domain in the USA.

Effect of Pressure on Some Optical Properties of GaxIn1-xP Semiconductors

NASA Astrophysics Data System (ADS)

Vyas, P.; Gajjar, P.; Jani, A.

2013-06-01

A theoretical procedure is presented for the study of optical properties of ternary alloy GaxIn1-xP. The calculations are based on the pseudopotential formalism in which local potential coupled with the virtual crystal approximation (VCA) is applied to evaluate the effect of pressure on the optical properties like refractive index, electronic polarizability, plasmon energy, dielectric constant and equation of state for gallium concentration x = 0, 0.25, 0.50, 0.75 and 1 of the ternary alloy GaxIn1-xP. To incorporate the screening effect, local field correction functions due to Hartree, Taylor, Ichimaru et al. and Nagy are employed. The refractive index, electronic polarizability and dielectric constant computed for the parent binary compounds GaP and InP are found to be satisfactorily agreeing with the experimental report. It is seen that the refractive index of GaxIn1-xP decreases nonlinearly with the increase in pressure. The results obtained using Hartree's screening functions are not very close to the experimental data as it does not include any exchange and correlation effects. Overall good agreement with the experimental and other theoretical findings confirms the application. The author P. S. Vyas is thankful to UGC, New Delhi, India for providing financial support under minor research project No. F.: 47-651/08(WRO).

A CASE STUDY USING THE EPA'S WATER QUALITY MODELING SYSTEM, THE WINDOWS INTERFACE FOR SIMULATING PLUMES (WISP)

EPA Science Inventory

Wisp, the Windows Interface for Simulating Plumes, is designed to be an easy-to-use windows platform program for aquatic modeling. Wisp inherits many of its capabilities from its predecessor, the DOS-based PLUMES (Baumgartner, Frick, Roberts, 1994). These capabilities have been ...

Satellite Data Processing System (SDPS) users manual V1.0

NASA Technical Reports Server (NTRS)

Caruso, Michael; Dunn, Chris

1989-01-01

SDPS is a menu driven interactive program designed to facilitate the display and output of image and line-based data sets common to telemetry, modeling and remote sensing. This program can be used to display up to four separate raster images and overlay line-based data such as coastlines, ship tracks and velocity vectors. The program uses multiple windows to communicate information with the user. At any given time, the program may have up to four image display windows as well as auxiliary windows containing information about each image displayed. SDPS is not a commercial program. It does not contain complete type checking or error diagnostics which may allow the program to crash. Known anomalies will be mentioned in the appropriate section as notes or cautions. SDPS was designed to be used on Sun Microsystems Workstations running SunView1 (Sun Visual/Integrated Environment for Workstations). It was primarily designed to be used on workstations equipped with color monitors, but most of the line-based functions and several of the raster-based functions can be used with monochrome monitors. The program currently runs on Sun 3 series workstations running Sun OS 4.0 and should port easily to Sun 4 and Sun 386 series workstations with SunView1. Users should also be familiar with UNIX, Sun workstations and the SunView window system.

[MRI findings of renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions].

PubMed

Zhong, Y; Wang, H Y; Chen, X; Guo, A T; Ma, L; Wang, Y W; Ye, H Y

2016-09-06

Objective: To analyze MRI findings of renal cell carcinoma associated with Xp11.2 translocation-TFE gene fusion(Xp11.2 RCC). Methods: MR imaging features of eleven patients with pathologically-proved Xp11.2 RCC were retrospectively analyzed from December 2008 to December 2015. The following MRI features of the lesions were analyzed in the study: location, maximal diameter, signal intensity, hemorrhage, necrosis, cystic change, enhancement features and metastasis. The data was analyzed by using t test. Results: Four men and seven women (mean age, 35.2 years; age range, 15-49 years) were included. Tumors occurred in the right kidney in 5 cases and the left kidney in 6 cases. On T 1 WI tumors showed heterogeneously hypo-intensity and iso-intensity, hyper-intensity in 10 cases, 1 cases, respectively. On T 2 WI tumors showed heterogeneously slight hypo-intensity, heterogeneously slight hyper-intensity and hyper-intensity in 6 cases, 4 cases, 1 case, respectively. On DWI tumors showed hyper-intensity and heterogeneously slight hype-intensity in 2 cases, 9 cases, respectively. ADC value of the tumors were statistically significant lower than that of renal cortex(×10 -3 mm 2 /s)(1.35±0.20 vs 2.09±0.11, P <0.05). Imaging findings were suggestive of hemorrhage( n =4) or necrosis ( n =1) or cystic change ( n =6) or lipid( n =1) in the tumors. On dynamic contrast-enhanced imaging, tumors showed lower signal intensity change (96%±93%, 110%±86% and 103%±46%, respectively) than did renal cortex (285%±109%, 254%±97% and 225%±90%, respectively) ( P <0.05). Tumor capsule showed in 7 cases. Enlarged lymph node was found in renal hilum in one case. Conclusion: MRI findings may show characteristic features of Xp11.2 RCC combined with patients' age and assist in preoperative correct diagnosis.

XP11.2 translocation renal cell carcinoma: clinical experience of Taipei Veterans General Hospital.

PubMed

Hung, Chia-Chen; Pan, Chin-Chen; Lin, Chih-Chieh; Lin, Alex T L; Chen, Kuang-Kuo; Chang, Yen-Hwa

2011-11-01

Xp11.2 translocation renal cell carcinoma (RCC), a recently recognized distinct subtype of RCC, is characterized by various translocations, all involving the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults and comprise about one-third of pediatric RCCs. In the present study, we review the clinical course of Xp11.2 translocation renal cell carcinoma in our institution. We identified eight cases with Xp11.2 translocation RCC between 2007 and 2010 from the pathological archives of the Taipei Veterans General Hospital. We retrospectively analyzed the patients' characteristics, clinical manifestations, and specific pathological features for definitive diagnosis, surgical and systemic treatment and clinical outcome of these rare cancers. Patients were aged 20 years to 49 years (mean age 28 years) with female predominance (6 females, 2 males). One patient presented with asymptomatic renal mass detected incidentally during abdominal sonography. Four patients complained of flank or abdominal pain, and the other three complained of gross hematuria at initial presentation. The mean tumor size was 9.2 cm (range, 4 cm-17 cm). Seven patients underwent radical nephrectomy for the primary tumor, while one presented with multiple metastases. All cases were confirmed by TFE3 immunohistochemistry, a sensitive and specific marker of tumors with TFE3 gene fusion, which showed positive nuclear staining. Three patients presented initially with metastatic diseases, and another three patients progressed to lung, liver and bone metastases at eight, seven and nine months postoperatively. Although RT-PCR and DNA sequencing are the final diagnoses of the molecular identity of Xp11.2 translocation RCC, experienced pathologists could confirm the histologic diagnosis based on the distinctive morphologic features with positive TFE3 immunochemical nuclear stain. Surgical resection is the only treatment. The role of systemic therapy for local recurrence and metastasis remains to be determined. Copyright © 2011. Published by Elsevier B.V.

Development of a YAC contig covering the minimal region of a CSNB1 locus in Xp11

DOE Office of Scientific and Technical Information (OSTI.GOV)

Boycott, K.M.; Gratton, K.J.; Moore, B.J.

1994-09-01

X-linked congenital stationary night blindness (CSNB1) is an eye disorder that includes impairment of night vision, reduced visual acuity and, in some cases, myopia and congenital nystagmus. Electroretinography reveals a marked reduction of the b-wave in affected individuals suggesting that X-linked CSNB is due to a molecular defect in the bipolar layer of the retina. Based on our studies of a large four generation family with X-linked CSNB, a CSNB1 locus was mapped to a 4-5 cM region at Xp11.23-Xp11.22 bounded telomerically by DXS426 and centromerically by DXS988. Using a panel of radiation and conventional somatic cell hybrids, a detailedmore » map of new and published STSs has been generated for the minimal region of CSNB1. PCR primer pairs for STSs has been generated for the minimal region of CSNB1. PCR primer pairs for twenty-five STSs, including eleven end-clones, were used to isolate YAC clones from CEPH, mega-CEPH, and X chromosome-specific YAC libraries. In total, fifty-two YACs were characterized for STS overlaps and assembled to provide a minimum of 3 Mb of physical coverage in the region between DXS426 and DXS988. Five gaps proximal to SYP are still to be closed. Our physical map suggests the following gene order: Xpter-OTAL1-GF1-DXS1011E-MG81-HUMCRAS2P-SYP-Xcen. STS analysis of the YACs revealed three subregions of the physical map which appear to be particularly susceptible to internal deletions and end-clone analysis demonstrated chimerism in six of seventeen YACs. A physical map of Xp11.23-Xp11.22 will provide a resource for the isolation of candidate genes for the X-linked CSNB gene which maps to this region.« less

Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report.

PubMed

Joy, J E; Poglod, R; Murphy, D L; Sims, K B; de la Chapelle, A; Sankila, E M; Norio, R; Merril, C R

1991-01-01

Norrie disease is an X-linked recessive disorder characterized by congenital blindness and, in many cases, mental retardation. Some Norrie disease cases have been shown to be associated with a submicroscopic deletion in chromosomal region Xp11.3. Cerebrospinal fluid (CSF) was collected from four male patients with an X-chromosomal deletion associated with Norrie disease. CSF proteins were resolved using two-dimensional gel electrophoresis and then analyzed by computer using the Elsie V program. Our analysis revealed a protein that appears to be altered in patients with Norrie disease deletion.

Implementation of a Personal Computer Based Parameter Estimation Program

DTIC Science & Technology

1992-03-01

if necessary and identify by biock nunrbet) FEILD GROUP SUBGROUP Il’arunietar uetinkatlUln 19 ABSTRACT (continue on reverse it necessary and identity...model constant ix L,M,N X,Y,Z moment components Lp: •sbc.’.• T’ = sb C . r, - 2 V C, , L, = _sb 2 C 2V C L8,=qsbC 1 , Lw Scale of the turbulence M Vector ...u,v,w X,Y,Z velocity components V Vector velocity V Magnitude of velocity vector w9 Z velocity due to gust X.. x-distance to normal acclerometer X.P x

User's manual for the Gaussian windows program

NASA Technical Reports Server (NTRS)

Jaeckel, Louis A.

1992-01-01

'Gaussian Windows' is a method for exploring a set of multivariate data, in order to estimate the shape of the underlying density function. The method can be used to find and describe structural features in the data. The method is described in two earlier papers. I assume that the reader has access to both of these papers, so I will not repeat material from them. The program described herein is written in BASIC and it runs on an IBM PC or PS/2 with the DOS 3.3 operating system. Although the program is slow and has limited memory space, it is adequate for experimenting with the method. Since it is written in BASIC, it is relatively easy to modify. The program and some related files are available on a 3-inch diskette. A listing of the program is also available. This user's manual explains the use of the program. First, it gives a brief tutorial, illustrating some of the program's features with a set of artificial data. Then, it describes the results displayed after the program does a Gaussian window, and it explains each of the items on the various menus.

Some Modified Integrated Squared Error Procedures for Multivariate Normal Data.

DTIC Science & Technology

1982-06-01

p-dimensional Gaussian. There are a number of measures of qualitative robustness but the most important is the influence function . Most of the other...measures are derived from the influence function . The influence function is simply proportional to the score function (Huber, 1981, p. 45 ). The... influence function at the p-variate Gaussian distribution Np (UV) is as -1P IC(x; ,N) = IE&) ;-") sD=XV = (I+c) (p+2)(x-p) exp(- ! (x-p) TV-.1-)) (3.6

Nance-Horan syndrome: linkage analysis in a family from The Netherlands.

PubMed

Bergen, A A; ten Brink, J; Schuurman, E J; Bleeker-Wagemakers, E M

1994-05-01

Linkage analysis was carried out in a Dutch family with Nance-Horan (NH) syndrome. Close linkage without recombination between NH and the Xp loci DXS207, DXS43, and DXS365 (zmax = 3.23) was observed. Multipoint linkage analysis and the analysis of recombinations in multiple informative meioses suggest the genetic order Xcen-DMD (exon 49)-DXS451-(NH, DXS207, DXS365, DXS43)-(STS, DXF30)-Xpter. These data refine the localization of the NH locus on the distal Xp.

Wind-Tunnel Tests of the 1/9-Scale Model of the Curtiss XP-62 Airplane with Various Vertical Tail Arrangements

NASA Technical Reports Server (NTRS)

Wallace, Arthur R.; Recant, I.G.

1943-01-01

The effect of various vertical tail arrangements upon the stability and control characteristics of an XP-62 fighter model was investigated. Rudder-free yaw characteristics with take-off power and flaps deflected were satisfactory after dorsal fin modifications. Directional stability was obtained with all modified vertical tails. Satisfactory rudder effectiveness resulted partly because the dual-rotation propellers produced no asymmetric yawing moments. Pedal forces in sideslips were undesirably large but may be easily reduced.

Investigation of the Flying Mock-Up of the Consolidated Vultee XP-92 Airplane in the Ames 40- by 80-Foot Wind Tunnel. Force and Moment Characteristics

NASA Technical Reports Server (NTRS)

Wick, Bradford, H.; Graham, David

1948-01-01

This report contains the results of the investigation of the aerodynamic characteristics of the flying mock-up of the Consolidated Vultee XP-92 airplane as conducted in the Ames 40- by 80-foot wind tunnel, Data are presented for test conditions which would give information as to the limits of stability and controllability, and also, the effect of Reynolds number. No analysis of the data has been made.

Simulation of n-qubit quantum systems. I. Quantum registers and quantum gates

NASA Astrophysics Data System (ADS)

Radtke, T.; Fritzsche, S.

2005-12-01

During recent years, quantum computations and the study of n-qubit quantum systems have attracted a lot of interest, both in theory and experiment. Apart from the promise of performing quantum computations, however, these investigations also revealed a great deal of difficulties which still need to be solved in practice. In quantum computing, unitary and non-unitary quantum operations act on a given set of qubits to form (entangled) states, in which the information is encoded by the overall system often referred to as quantum registers. To facilitate the simulation of such n-qubit quantum systems, we present the FEYNMAN program to provide all necessary tools in order to define and to deal with quantum registers and quantum operations. Although the present version of the program is restricted to unitary transformations, it equally supports—whenever possible—the representation of the quantum registers both, in terms of their state vectors and density matrices. In addition to the composition of two or more quantum registers, moreover, the program also supports their decomposition into various parts by applying the partial trace operation and the concept of the reduced density matrix. Using an interactive design within the framework of MAPLE, therefore, we expect the FEYNMAN program to be helpful not only for teaching the basic elements of quantum computing but also for studying their physical realization in the future. Program summaryTitle of program:FEYNMAN Catalogue number:ADWE Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADWE Program obtainable from:CPC Program Library, Queen's University of Belfast, N. Ireland Licensing provisions:None Computers for which the program is designed:All computers with a license of the computer algebra system MAPLE [Maple is a registered trademark of Waterlo Maple Inc.] Operating systems or monitors under which the program has been tested:Linux, MS Windows XP Programming language used:MAPLE 9.5 (but should be compatible with 9.0 and 8.0, too) Memory and time required to execute with typical data:Storage and time requirements critically depend on the number of qubits, n, in the quantum registers due to the exponential increase of the associated Hilbert space. In particular, complex algebraic operations may require large amounts of memory even for small qubit numbers. However, most of the standard commands (see Section 4 for simple examples) react promptly for up to five qubits on a normal single-processor machine ( ⩾1GHz with 512 MB memory) and use less than 10 MB memory. No. of lines in distributed program, including test data, etc.: 8864 No. of bytes in distributed program, including test data, etc.: 493 182 Distribution format: tar.gz Nature of the physical problem:During the last decade, quantum computing has been found to provide a revolutionary new form of computation. The algorithms by Shor [P.W. Shor, SIAM J. Sci. Statist. Comput. 26 (1997) 1484] and Grover [L.K. Grover, Phys. Rev. Lett. 79 (1997) 325. [2

KSC-2009-6634

NASA Image and Video Library

2009-11-30

CAPE CANAVERAL, Fla. – The Launch Control Center at NASA's Kennedy Space Center in Florida is ready to support NASA's 21st century space program. The louvered windows installed during the Apollo era have been replaced with new, hurricane-rated window systems in the four firing rooms and vestibule areas between the firing rooms. To avoid operational impacts and protect the firing rooms from the elements, the new windows were installed on the outside of the original windows, enclosing the space formerly occupied by the louvers until the new windows were leak tested. Photo credit: NASA/Jack Pfaller

KSC-2009-6631

NASA Image and Video Library

2009-11-30

CAPE CANAVERAL, Fla. – The Launch Control Center at NASA's Kennedy Space Center in Florida is ready to support NASA's 21st century space program. The louvered windows installed during the Apollo era have been replaced with new, hurricane-rated window systems in the four firing rooms and vestibule areas between the firing rooms. To avoid operational impacts and protect the firing rooms from the elements, the new windows were installed on the outside of the original windows, enclosing the space formerly occupied by the louvers until the new windows were leak tested. Photo credit: NASA/Jack Pfaller

KSC-2009-6632

NASA Image and Video Library

2009-11-30

CAPE CANAVERAL, Fla. – The Launch Control Center at NASA's Kennedy Space Center in Florida is ready to support NASA's 21st century space program. The louvered windows installed during the Apollo era have been replaced with new, hurricane-rated window systems in the four firing rooms and vestibule areas between the firing rooms. To avoid operational impacts and protect the firing rooms from the elements, the new windows were installed on the outside of the original windows, enclosing the space formerly occupied by the louvers until the new windows were leak tested. Photo credit: NASA/Jack Pfaller

KSC-2009-6633

NASA Image and Video Library

2009-11-30

CAPE CANAVERAL, Fla. – The Launch Control Center at NASA's Kennedy Space Center in Florida is ready to support NASA's 21st century space program. The louvered windows installed during the Apollo era have been replaced with new, hurricane-rated window systems in the four firing rooms and vestibule areas between the firing rooms. To avoid operational impacts and protect the firing rooms from the elements, the new windows were installed on the outside of the original windows, enclosing the space formerly occupied by the louvers until the new windows were leak tested. Photo credit: NASA/Jack Pfaller

Demonstration Program for Low-Cost, High-Energy-Saving Dynamic Windows

DTIC Science & Technology

2014-09-01

Design The scope of this project was to demonstrate the impact of dynamic windows via energy savings and HVAC peak-load reduction; to validate the...temperature and glare. While the installed dynamic window system does not directly control the HVAC or lighting of the facility, those systems are designed ...optimize energy efficiency and HVAC load management. The conversion to inoperable windows caused an unforeseen reluctance to accept the design and

75 FR 50986 - Notice of Contract Proposal (NOCP) for Payments to Eligible Advanced Biofuel Producers

Federal Register 2010, 2011, 2012, 2013, 2014

2010-08-18

... remaining available Fiscal Year 2009 program funds. This Notice opens an application window for certain... opening a new application window from August 18, 2010 through September 17, 2010 to accept applications... opening a new application window to accept additional applications for the remaining available Fiscal Year...

Challenger Center's Window on the Universe

NASA Astrophysics Data System (ADS)

Livengood, T. A.; Goldstein, J. J.; Smith, S.; Bobrowsky, M.; Radnofsky, M.; Perelmuter, J.-M.; Jaggar, L.

2001-11-01

Challenger Center for Space Science Education's Window on the Universe program aims to create a network of under-served communities across the nation dedicated to sustained science, math, and technology education. Window communities presently include Broken Arrow, OK; Muncie, IN; Moscow, ID; Nogales, AZ; Tuskegee, AL; Marquette, MI; Altamont, KS; Washington, D.C.; and other emerging sites. Window uses themes of human space flight and the space sciences as interdisciplinary means to inspire entire communities. Practicing scientists and engineers engaged in these disciplines are invited to volunteer to become a part of these communities for a week, each visitor reaching roughly 2000 K-12 students through individual classroom visits and Family Science Night events during an intense Window on the Universe Week. In the same Window Week, Challenger Center scientists and educators present a workshop for local educators to provide training in the use of a K-12 educational module built around a particular space science and exploration theme. Window communities follow a 3-year development: Year 1, join the network, experience Window Week presented by Challenger Center and visiting researchers; Year 2, same as Year 1 plus workshop on partnering with local organizations to develop sources of visiting researchers and to enhance connections with local resources; Year 3 and subsequent, the community stages its own Window Week, with Challenger Center providing new education modules and training workshops for "master educators" from the Window community, after which the master educators return home to conduct training workshops of their own. Challenger Center remains a resource and clearinghouse for Window communities to acquire experience, technical information, and opportunities for distance collaboration with other Window communities. Window on the Universe is dedicated to assessing degree of success vs. failure in each program component and as a whole, using pre- and post-assessment questionnaires to develop a sound basis for continual improvement. Window on the Universe is funded by NASA's Office of Space Flight and the Office of Space Science.

The impact of intramolecular π-coupling and steric flexibility on the ordering of organic films at solid/liquid-interfaces

NASA Astrophysics Data System (ADS)

Saracino, Martino; Breuer, Stephan; Barati, Gholamreza; Sak, Emilia; Hingerl, Kurt; Müller, Ute; Müller, Manfred; Höger, Sigurd; Wandelt, Klaus

2013-01-01

In the present work the effect of the intramolecular steric flexibility on the structural self-assembly of organic cations and their redox activity at a chloride precovered Cu(100) electrode is investigated. In particular the adsorption of 1,1‧-dibenzyl-4,4‧-(propane-1,3-diyl)dipyridinium (C3-DBDP) is studied by means of cyclic voltametry (CV), in situ scanning tunneling microscopy (EC-STM) and ex situ X-ray photoelectron spectroscopy (XPS) and the experimental results are compared to previously published findings on related bipyridinium (“viologen”) molecules. The CV measurements reveal a loss of the redox activity of the more flexible C3-DBDP2 + compared to dibenzylviologen (DBV2 +), as the first electron reduction step of C3-DBDP2 + does not appear within the potential window of the Cu(100), but is shifted below the hydrogen evolution regime. This reduced redox activity is the result of the lifting of the extended π-system of the bipyridinium core by introducing the propyl chain between the two pyridinium rings. In agreement with this result, XP spectra prove that the C3-DBDP2 + cations retain their initial dicationic charge within the entire potential window in solution but also upon adsorption on the Cl-c(2x2)/Cu(100) substrate, where they are found to form an inter-linked stripe phase. The building blocks of each stripe are attributed to one pyridinium-benzyl moiety, which represents half of one C3-DBDP2 + molecule. The resulting consecutive arrangement of half C3-DBDP2 + molecules along one stripe is stabilized by electrostatic attraction between the positively charged pyridinium rings and the negatively charged π-system of the benzyl rings.

Topologically knotted deubiquitinases exhibit unprecedented mechanostability to withstand the proteolysis by an AAA+ protease.

PubMed

Sriramoju, Manoj Kumar; Chen, Yen; Lee, Yun-Tzai Cloud; Hsu, Shang-Te Danny

2018-05-04

More than one thousand knotted protein structures have been identified so far, but the functional roles of these knots remain elusive. It has been postulated that backbone entanglement may provide additional mechanostability. Here, we employed a bacterial proteasome, ClpXP, to mechanically unfold 5 2 -knotted human ubiquitin C-terminal hydrolase (UCH) paralogs from their C-termini, followed by processive translocation into the proteolytic chamber for degradation. Our results revealed unprecedentedly slow kinetics of ClpXP-mediated proteolysis for the proteasome-associated UCHL5: ten thousand times slower than that of a green fluorescence protein (GFP), which has a comparable size to the UCH domain but much higher chemical and thermal stabilities. The ClpXP-dependent mechanostability positively correlates with the intrinsic unfolding rates of the substrates, spanning over several orders of magnitude for the UCHs. The broad range of mechanostability within the same protein family may be associated with the functional requirements for their differential malleabilities.

Atypical ethanol production by carbon catabolite derepressed lactobacilli.

PubMed

Kim, Jae-Han; Block, David E; Shoemaker, Sharon P; Mills, David A

2010-11-01

Cost effective use of lignocellulosic biomass for bio-based chemical production requires the discovery of novel strains and processes. Lactobacillus pentosus JH5XP5 is a carbon catabolite repression negative mutant which utilizes glucose and pentoses derived from lignocellulosic biomass in the media simultaneously. With a broad range of carbon substrates, L. pentosus JH5XP5 produced a significant amount of ethanol without acetate formation. The yields of ethanol were 2.0- to 2.5-fold higher than those of lactate when glucose, galactose or maltose was used either as a single carbon source or simultaneously with glucose. L. pentosus JH5XP5 was successfully used in an integrated process of simultaneous saccharification and mixed sugar fermentation of rice straw hydrolysate. During the fermentation, the enzyme activities for the saccharification of cellulose were not diminished. Moreover glucose, xylose, and arabinose sugars derived from rice straw hyrolysate were consumed concurrently as if a single carbon source existed and no sugars or cellulosic fiber remained after the fermentation.

[Sleep disordered breathing in group A xeroderma pigmentosum].

PubMed

Kouji, T; Kumada, S; Kohyama, J; Shimohira, M; Iwakawa, Y

1994-07-01

We studied sleep disordered breathing (SDB) in 12 patients with group A xeroderma pigmentosum (XP) by means of respiratory inductive plethysmography (Respisomnograph:Nims) during polysomnographical examination. The subjects were 6 male and 6 female patients aged from 10 months to 25 years. Four out of the subjects had SDB:3 showed sleep apnea (apnea index ranged from 5.2 to 44.2/h) and 1 presented desaturation during sleep (desaturation time per total sleep time was 4.3%). All these patients were over 12 years. The patients below 14 years had mainly the central type of SDB, and the others aged over 16 years had both the central and obstructive types of SDB. Three of the 4 patients had daytime sleepiness or restless sleep, which seemed to be due to SDB. We discussed the pathophysiology of SDB with XP in relation with brain stem function and peripheral neuropathy. We must pay attention to SDB in patients with XP aged over 12 years.

A case study of metastatic Xp11.2 translocation renal cell carcinoma effectively treated with sunitinib.

PubMed

Numakura, Kazuyuki; Tsuchiya, Norihiko; Yuasa, Takeshi; Saito, Mitsuru; Obara, Takashi; Tsuruta, Hiroshi; Narita, Shintaro; Horikawa, Yohei; Satoh, Shigeru; Habuchi, Tomonori

2011-10-01

We report a case of Xp11.2 translocation renal cell carcinoma (RCC) whose lung metastases were effectively treated with sunitinib. A 43-year-old woman presenting with upper abdominal pain was diagnosed with a left renal tumor. Laparoscopic left radical nephrectomy was performed. Histopathological examination of the surgical specimen revealed a clear-cell carcinoma of the left kidney. Two years later, multiple lung metastases were detected and the patient was treated daily with 50 mg sunitinib. A computed tomography scan performed after 2 cycles of sunitinib treatment revealed partial regression of these metastases. The partial regression has been maintained for >3 years. In retrospective evaluation of the primary RCC, tumor cells showed strong nuclear staining for transcription factor E3 (TFE3) protein and TFE3 split-fluorescence in-situ hybridization revealed translocation involving the TFE3 gene. These findings strongly support diagnosis of Xp11.2 translocation RCC.

Sunitinib-induced nephrotic syndrome in association with drug response in a patient with Xp11.2 translocation renal cell carcinoma.

PubMed

Liu, Yao-Chung; Chang, Peter Mu-Hsin; Liu, Chun-Yu; Yang, Chih-Yu; Chen, Ming-Han; Pan, Chin-Chen; Chen, Ming-Huang

2011-11-01

We report the case of a patient with metastatic renal cell carcinoma with Xp11.2 translocation/transcription factor E3 (TFE3) gene fusion who had presented with sunitinib-induced nephrotic syndrome in association with favorable and durable treatment response. The nephrotic syndrome was managed successfully by discontinuing sunitinib and symptomatic treatment. The 27-year-old female patient presenting with right upper abdominal pain was diagnosed with Xp11.2 translocation renal cell carcinoma on the right side with multiple pulmonary and hepatic metastases. She underwent radical nephrectomy and took a daily dose of 37.5 mg sunitinib. Partial response to sunitinib was achieved and maintained for 5 months, but when nephrotic syndrome occurred, drug intake was discontinued. The nephrotic syndrome gradually resolved around 2 months after discontinuation of sunitinib and medical management. Our case highlighted the favorable response of a particular non-clear cell type renal cell carcinoma to sunitinib and the specific toxicity associated with the antiangiogenic effect of sunitinib.

Pediatric renal cell carcinomas with Xp11.2 rearrangements are immunoreactive for hMLH1 and hMSH2 proteins.

PubMed

Rakheja, Dinesh; Kapur, Payal; Tomlinson, Gail E; Margraf, Linda R

2005-01-01

Alveolar soft part sarcoma and pediatric renal cell carcinoma share a similar chromosomal abnormality, t(X;17)(p11.2;q25). Recently, it has been suggested that the inactivation of DNA mismatch repair genes hMLH1 and hMSH2 may play an additional role in the pathogenesis of alveolar soft part sarcoma. Immunohistochemical expression of the proteins hMLH1 and hMSH2 is indicative of the activation status of the corresponding genes. We performed immunohistochemistry for hMLH1 and hMSH2 in 4 cases of pediatric renal cell carcinomas with Xp11.2 rearrangements. All cases showed nuclear immunoreactivity for both proteins, although the staining was patchy. Our study demonstrates that inactivation of the DNA mismatch repair genes hMLH1 and hMSH2 does not appear to play a role in the tumorigenesis of pediatric renal cell carcinomas with Xp11.2 rearrangements.

Renal Cell Carcinoma Associated With Xp11.2 Translocation/TFE3 Gene-fusion: A Long Response to mammalian target of rapamycin (mTOR) Inhibitors.

PubMed

Rua Fernández, Oliver R; Escala Cornejo, Roberto; Navarro Martín, Miguel; García Muñoz, María; Antunez Plaza, Patricia; García Dominguez, Aracely Rocío; Cruz Hernández, Juan J

2018-04-24

To demonstrate that patients with Xp11.2/TFE3 gene-fusion translocation renal cell carcinoma (RCC), despite having an aggressive course in young adults, could have valid treatment options such as mammalian target of rapamycin (mTOR) inhibitors with good outcomes. Furthermore, to explain possible mechanisms of action of mTOR inhibitors in this type of RCC. We report a case of a 44-year-old man who has been treated with everolimus for a Xp11.2 translocation/TFE3 gene-fusion RCC after 2 previous failed treatments with tyrosine kinase inhibitor. During the follow-up, we evaluated type and duration of response with everolimus. The patient obtained a long-lasting response of disease of 25 months with everolimus without any symptom. We believe that mTOR inhibitors could be a good line option treatment to consider for this type of patients. Copyright © 2018 Elsevier Inc. All rights reserved.

Low noise scintillation detectors with a P-47 thin layer screen for electrons of several keV

NASA Astrophysics Data System (ADS)

Kajcsos, Zs.; Meisel, W.; Griesbach, P.; Gütlich, P.; Sauer, Ch.; Kurz, R.; Hildebrand, K.; Albrecht, R.; Ligtenberg, M. A. C.

1994-09-01

The applicability of a low-noise scintillation detector (ScD) for the registration of electrons of several keV energy has been studied employing photomultipliers (PM) of different types and sizes. With the application of a sedimented P-47 scintillation screen, the values of the low-energy sensitivity limit and those of the light conversion coefficient were determined as about 2.7-4.7 keV and 2.8-6.6 photoelectrons/keV, respectively, for the set of PM's (Philips-Valvo XP 2020, Philips-Valvo XP 2052, Philips-Valvo XP 2972, EMI 9124a) studied. It is concluded that such scintillation detectors might be used advantageously as electron counters in the range of E > 5 keV. Applications below this kinetic energy value are also feasible when applying a floating acceleration of several kV to the ScD — a voltage much lower than the values required for Everhart-Thornley detectors.

Genetic Correction of Stem Cells in the Treatment of Inherited Diseases and Focus on Xeroderma Pigmentosum

PubMed Central

Rouanet, Sophie; Warrick, Emilie; Gache, Yannick; Scarzello, Sabine; Avril, Marie-Françoise; Bernerd, Françoise; Magnaldo, Thierry

2013-01-01

Somatic stem cells ensure tissue renewal along life and healing of injuries. Their safe isolation, genetic manipulation ex vivo and reinfusion in patients suffering from life threatening immune deficiencies (for example, severe combined immunodeficiency (SCID)) have demonstrated the efficacy of ex vivo gene therapy. Similarly, adult epidermal stem cells have the capacity to renew epidermis, the fully differentiated, protective envelope of our body. Stable skin replacement of severely burned patients have proven life saving. Xeroderma pigmentosum (XP) is a devastating disease due to severe defects in the repair of mutagenic DNA lesions introduced upon exposure to solar radiations. Most patients die from the consequences of budding hundreds of skin cancers in the absence of photoprotection. We have developed a safe procedure of genetic correction of epidermal stem cells isolated from XP patients. Preclinical and safety assessments indicate successful correction of XP epidermal stem cells in the long term and their capacity to regenerate a normal skin with full capacities of DNA repair. PMID:24113582

Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications.

PubMed

Feltes, Bruno César; Bonatto, Diego

2015-01-01

The xeroderma pigmentosum complementation group proteins (XPs), which include XPA through XPG, play a critical role in coordinating and promoting global genome and transcription-coupled nucleotide excision repair (GG-NER and TC-NER, respectively) pathways in eukaryotic cells. GG-NER and TC-NER are both required for the repair of bulky DNA lesions, such as those induced by UV radiation. Mutations in genes that encode XPs lead to the clinical condition xeroderma pigmentosum (XP). Although the roles of XPs in the GG-NER/TC-NER subpathways have been extensively studied, complete knowledge of their three-dimensional structure is only beginning to emerge. Hence, this review aims to summarize the current knowledge of mapped mutations and other structural information on XP proteins that influence their function and protein-protein interactions. We also review the possible post-translational modifications for each protein and the impact of these modifications on XP protein functions. Copyright © 2014 Elsevier B.V. All rights reserved.

A fetus with an X;1 balanced reciprocal translocation and eye disease.

PubMed Central

Seller, M J; Pal, K; Horsley, S; Davies, A F; Berry, A C; Meredith, R; McCartney, A C

1995-01-01

A 19 week female fetus is described with a de novo X;1 reciprocal balanced translocation, with the breakpoint on the X chromosome at Xp11.4, and eye pathology consistent with the early stages of Norrie disease. The fetus seems to be an example of a female manifesting an X linked recessive disease, and it was shown that the normal X chromosome was completely inactivated in all cells examined. Norrie disease has been mapped to Xp11.3, and fluorescence in situ hybridisation studies showed that the Norrie disease gene had not obviously been disrupted. Mutation screening by SSCP analysis showed no aberrant fragments of the coding region of the gene. Several eye disease genes map to the same region of the X chromosome, but are excluded on grounds of pathology. One possibility is that this fetus has a Norrie-like eye disease caused by the mutation of another gene located at Xp11.4. If this is so, there are implications for prenatal diagnosis. Images PMID:7562972

Single-molecule protein unfolding and translocation by an ATP-fueled proteolytic machine

PubMed Central

Aubin-Tam, Marie-Eve; Olivares, Adrian O.; Sauer, Robert T.; Baker, Tania A.; Lang, Matthew J.

2011-01-01

All cells employ ATP-powered proteases for protein-quality control and regulation. In the ClpXP protease, ClpX is a AAA+ machine that recognizes specific protein substrates, unfolds these molecules, and then translocates the denatured polypeptide through a central pore and into ClpP for degradation. Here, we use optical-trapping nanometry to probe the mechanics of enzymatic unfolding and translocation of single molecules of a multidomain substrate. Our experiments demonstrate the capacity of ClpXP and ClpX to perform mechanical work under load, reveal very fast and highly cooperative unfolding of individual substrate domains, suggest a translocation step size of 5–8 amino acids, and support a power-stroke model of denaturation in which successful enzyme-mediated unfolding of stable domains requires coincidence between mechanical pulling by the enzyme and a transient stochastic reduction in protein stability. We anticipate that single-molecule studies of the mechanical properties of other AAA+ proteolytic machines will reveal many shared features with ClpXP. PMID:21496645

Efficient self-consistency for magnetic tight binding

NASA Astrophysics Data System (ADS)

Soin, Preetma; Horsfield, A. P.; Nguyen-Manh, D.

2011-06-01

Tight binding can be extended to magnetic systems by including an exchange interaction on an atomic site that favours net spin polarisation. We have used a published model, extended to include long-ranged Coulomb interactions, to study defects in iron. We have found that achieving self-consistency using conventional techniques was either unstable or very slow. By formulating the problem of achieving charge and spin self-consistency as a search for stationary points of a Harris-Foulkes functional, extended to include spin, we have derived a much more efficient scheme based on a Newton-Raphson procedure. We demonstrate the capabilities of our method by looking at vacancies and self-interstitials in iron. Self-consistency can indeed be achieved in a more efficient and stable manner, but care needs to be taken to manage this. The algorithm is implemented in the code PLATO. Program summaryProgram title:PLATO Catalogue identifier: AEFC_v2_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEFC_v2_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: Standard CPC licence, http://cpc.cs.qub.ac.uk/licence/licence.html No. of lines in distributed program, including test data, etc.: 228 747 No. of bytes in distributed program, including test data, etc.: 1 880 369 Distribution format: tar.gz Programming language: C and PERL Computer: Apple Macintosh, PC, Unix machines Operating system: Unix, Linux, Mac OS X, Windows XP Has the code been vectorised or parallelised?: Yes. Up to 256 processors tested RAM: Up to 2 Gbytes per processor Classification: 7.3 External routines: LAPACK, BLAS and optionally ScaLAPACK, BLACS, PBLAS, FFTW Catalogue identifier of previous version: AEFC_v1_0 Journal reference of previous version: Comput. Phys. Comm. 180 (2009) 2616 Does the new version supersede the previous version?: Yes Nature of problem: Achieving charge and spin self-consistency in magnetic tight binding can be very difficult. Our existing schemes failed altogether, or were very slow. Solution method: A new scheme for achieving self-consistency in orthogonal tight binding has been introduced that explicitly evaluates the first and second derivatives of the energy with respect to input charge and spin, and then uses these to search for stationary values of the energy. Reasons for new version: Bug fixes and new functionality. Summary of revisions: New charge and spin mixing scheme for orthogonal tight binding. Numerous small bug fixes. Restrictions: The new mixing scheme scales poorly with system size. In particular the memory usage scales as number of atoms to the power 4. It is restricted to systems with about 200 atoms or less. Running time: Test cases will run in a few minutes, large calculations may run for several days.

Digital PIV (DPIV) Software Analysis System

NASA Technical Reports Server (NTRS)

Blackshire, James L.

1997-01-01

A software package was developed to provide a Digital PIV (DPIV) capability for NASA LaRC. The system provides an automated image capture, test correlation, and autocorrelation analysis capability for the Kodak Megaplus 1.4 digital camera system for PIV measurements. The package includes three separate programs that, when used together with the PIV data validation algorithm, constitutes a complete DPIV analysis capability. The programs are run on an IBM PC/AT host computer running either Microsoft Windows 3.1 or Windows 95 using a 'quickwin' format that allows simple user interface and output capabilities to the windows environment.

Development and Validation of Methods for Applying Pharmacokinetic Data in Risk Assessment. Volume 7. PBPK SIM

DTIC Science & Technology

1990-12-01

keys 7 Executing PBPKSIM 10 Main Menu 12 File Selection 13 Data 13 simulation 13 All 14 sTatistics 14 Change directory 14 dos Shell 15 eXit 15 Data...the PBPKSIM program are based upon the window design seen here: TITLE I MENU BAR I INFORMATION LINE I I I IMIN DISPLAY AREAI1 1 I I I I I I I STATUS...AREAI Title shows the location of the program by supplying the name of the window being exeLuted. Menu Bar displays the other windows or other

75 FR 10455 - Broadband Initiatives Program

Federal Register 2010, 2011, 2012, 2013, 2014

2010-03-08

... Application Window for Notice of Funds Availability (NOFA) and solicitation of applications. SUMMARY: On...). In response to requests by a wide variety of stakeholders, RUS is extending the application window...

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

PubMed Central

Kralund, Henrik H.; Ousager, Lilian; Jaspers, Nicolaas G.; Raams, Anja; Pedersen, Erling B.; Gade, Else; Bygum, Anette

2013-01-01

Xeroderma Pigmentosum (XP), Trichothiodystrophy (TTD) and Cockayne Syndrome (CS) are rare, recessive disorders caused by mutational defects in the Nucleotide Excision Repair (NER) pathway and/or disruption of basic cellular DNA transcription. To date, a multitude of mutations in the XPD/ERCC2 gene have been described, many of which give rise to NER- and DNA transcription related diseases, which share certain diagnostic features and few overlap patients have been described. Despite increasing understanding of the roles of XPD/ERCC2 in mammalian cells, there is still weak predictability of somatic outcome from many of these mutations. We demonstrate a patient, believed to represent an overlap between XP and TTD/CS. In addition to other organ dysfunctions, the young man presented with Photosensitivity, Ichthyosis, Brittle hair, Impaired physical and mental development, Decreased fertility and Short stature (PIBIDS) suggestive of TTD, but lacking the almost patognomonic “tiger tail” banding of the hair under polarized light. Additionally, he developed basal cell carcinoma aged 28, as well as adult onset kidney failure, features normally not associated with TTD but rather XP/CS. His freckled appearance also suggested XP, but fibroblast cultures only demonstrated x2 UV-sensitivity with expected NER and TFIIH-activity decrease. Genetic sequencing of the XPD/ERCC2 gene established the patient as heterozygote compound with a novel, N-terminal Y18H mutation and a known C-terminal (TTD) mutation, A725P. The possible interplay between gene products and the patient phenotype is discussed. PMID:25002996

Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes

DOE Office of Scientific and Technical Information (OSTI.GOV)

Venema, J.; van Hoffen, A.; Karcagi, V.

1991-08-01

The authors have measured the removal of UV-induced pyrimidine dimers from DNA fragments of the adenosine deaminase (ADA) and dihydrofolate reductase (DHFR) genes in primary normal human and xeroderma pigmentosum complementation group C (XP-C) cells. Using strand-specific probes, we show that in normal cells, preferential repair of the 5{prime} part of the ADA gene is due to the rapid and efficient repair of the transcribed strand. Within 8 h after irradiation with UV at 10 J m-2, 70% of the pyrimidine dimers in this strand are removed. The nontranscribed strand is repaired at a much slower rate, with 30% dimersmore » removed after 8 h. Repair of the transcribed strand in XP-C cells occurs at a rate indistinguishable from that in normal cells, but the nontranscribed strand is not repaired significantly in these cells. Similar results were obtained for the DHFR gene. In the 3{prime} part of the ADA gene, however, both normal and XP-C cells perform fast and efficient repair of either strand, which is likely to be caused by the presence of transcription units on both strands. The factor defective in XP-C cells is apparently involved in the processing of DNA damage in inactive parts of the genome, including nontranscribed strands of active genes. These findings have important implications for the understanding of the mechanism of UV-induced excision repair and mutagenesis in mammalian cells.« less

Descemet Stripping Automated Endothelial Keratoplasty for Endothelial Dysfunction in Xeroderma Pigmentosum: A Clinicopathological Correlation and Review of Literature.

PubMed

Vira, Divya; Fernandes, Merle; Mittal, Ruchi

2016-07-01

Xeroderma pigmentosum (XP) mainly affects the ocular surface; however, endothelial damage may also occur. We would like to report changes in the endothelial-Descemet layer and review the literature on similar findings in patients with XP, including the role of Descemet stripping automated endothelial keratoplasty (DSAEK) in the management of a 21-year-old man who presented with nonresolving corneal edema in the right eye after excision biopsy for conjunctival intraepithelial neoplasia. His best-corrected visual acuity (BCVA) was 20/200 in the right eye and 20/20 in the left eye. On general examination, there was patchy hyperpigmentation of the exposed areas of skin suggestive of XP. On examination of the right eye, there was stromal edema involving the exposed half of cornea. The left eye appeared normal. Pachymetry readings were 860 and 600 μm in the right and left eye, respectively. Descemet stripping automated endothelial keratoplasty was performed for endothelial dysfunction and the stripped endothelium, and Descemet membrane (DM) was sent for histopathologic evaluation. Postoperatively, the donor lenticule was well apposed and the overlying stromal edema resolved. The patient achieved a BCVA of 20/30 in the right eye without progression of corneal scarring at 1-year follow-up. In the meanwhile, however, the left eye developed corneal edema. Histopathology revealed gross attenuation of endothelial cells with uniform thickness of the DM. Corneal endothelial dysfunction in XP is amenable to treatment with DSAEK.

Low temperature growth of Ga 1- xIn xP bulk crystals from InSb-rich melt

NASA Astrophysics Data System (ADS)

Gennett, A.; Lewis, D.; Dutta, P. S.

2010-04-01

Bulk growth of phosphorus and arsenic based ternary III-V semiconductor crystals using pseudo-binary melts such as GaP-InP, GaP-GaAs, AlAs-GaAs, etc. is significantly challenging due to the high vapor pressures of group V species in conjunction with slow growth rates and the need for melt replenishment and mixing during growth. Lowering the growth temperature is desirable such that the vapor pressures of P and As can be easily handled. Low growth temperatures could be achieved by using Ga or In rich solutions. However, this approach is less attractive for growing bulk crystals due to several experimental difficulties including sticking of the growth solution to the crucible wall and to the grown crystal, making it challenging for crystal extraction. Growth of ternary crystals from low temperature quaternary melts has been found to be attractive. In this paper, we will present a new method for the growth of Ga 1- xIn xP from InSb rich Ga 1- xIn xP ySb 1- y melts at low growth temperatures in the range of 800-1050 °C. Thermodynamic phase diagrams calculated at various temperatures using a Gibbs free energy minimization software and materials databases commercially available from Thermo-Calc software will be presented along with experimental validation for Ga 1- xIn xP crystals grown at 1000 °C.

Stability and Control Characteristics of a 1/10-Scale Model of the McDonnell XP-85 Airplane While Attached to the Trapeze

NASA Technical Reports Server (NTRS)

Johnson, Joseph L.

1947-01-01

At the request of the Air Materiel Command, Army Air Forces, an investigation of the low-speed, power-off, stability and control characteristics of the McDonnell XP-85 airplane has been conducted in the Langley free-flight tunnel. The results of the portion of the investigation consisting of tests of a 1/10-scale model to study the stability of the XP-85 when attached to the trapeze and during retraction into the B-36 bomb bay are presented herein. In the power-off condition the stability was satisfactory with all oscillations well damped and the nose-restraining collar could be placed in position without difficulty. In a simulated power-on condition the model had a constant-amplitude rolling and sidewise motion and when the collar was layered, a violent motion resulted if the collar struck the model but failed to hold it in the proper manner. Folding of the wings and retraction into the bomb bay offered no problem once the airplane was properly held by the collar. It is recommended that the power be cut immediately after hooking on and that a restricting mechanism be incorporated in the center of the trapeze to eliminate the sidewise motion. It also appears desirable to have the retracting procedure controlled by the XP-85 pilot or an observer in the mother ship to insure that the parasite is in proper position after hooking up before bringing the collar down.

A computer program to determine the possible daily release window for sky target experiments

NASA Technical Reports Server (NTRS)

Michaud, N. H.

1973-01-01

A computer program is presented which is designed to determine the daily release window for sky target experiments. Factors considered in the program include: (1) target illumination by the sun at release time and during the tracking period; (2) look angle elevation above local horizon from each tracking station to the target; (3) solar depression angle from the local horizon of each tracking station during the experimental period after target release; (4) lunar depression angle from the local horizon of each tracking station during the experimental period after target release; and (5) total sky background brightness as seen from each tracking station while viewing the target. Program output is produced in both graphic and data form. Output data can be plotted for a single calendar month or year. The numerical values used to generate the plots are furnished to permit a more detailed review of the computed daily release windows.

Effect of p–d hybridization, structural distortion and cation electronegativity on electronic properties of ZnSnX{sub 2} (X=P, As, Sb) chalcopyrite semiconductors

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mishra, S.; Ganguli, B., E-mail: biplabg@nitrkl.ac.in

2013-04-15

Significant effects of p–d hybridization, structural distortion and cation-electro-negativity are found on band gap in ZnSnX{sub 2} (X=P, As, Sb). Our study suggests these compounds to be direct band gap semiconductors with band gaps of 1.23, 0.68 and 0.19 eV respectively. Lattice constants, tetragonal distortion (η), anion displacement, bond lengths and bulk moduli are calculated by Density Functional Theory based on Tight binding Linear Muffin-Tin orbital method. Our result of structural properties is in good agreement with the available experimental and other theoretical results. Calculated band gaps also agree well with the experimental works within LDA limitation. Unlike other semiconductorsmore » in the group II–IV–V{sub 2}, there is a reduction in the band gap of 0.22, 0.20 and 0.24 eV respectively in ZnSnX{sub 2} (X=P, As, Sb) due to p–d hybridization. Structural distortion decreases band gap by 0.20, 0.12 and 0.10 eV respectively. We find that cation electronegativity effect is responsible for increasing the band gap relative to their binary analogs GaInP{sub 2}, InGaAs{sub 2} and GaInSb{sub 2} respectively and increment are 0.13, 0.04 and 0.13 eV respectively. - Graphical abstract: One unit cell of ZnSnX{sub 2} (X=P, As, Sb) chalcopyrite semiconductor. Semiconductors ZnSnX{sub 2} (X=P, As, Sb) are found to be direct band gap semiconductors with band gaps 1.23, 0.68 and 0.19 eV respectively. The quantitative estimate of effects of p–d hybridization, structural distortion and cation electronegativity shows band gaps change significantly due to these effects. Highlights: ► ZnSnX{sub 2} (X=P, As, Sb) are direct band gap semiconductors. ► These have band gaps of 1.23 eV, 0.68 eV and 0.19 eV respectively. ► The band gap reduction due to p–d hybridization is 13.41%, 18.51% and 40% respectively. ► Band gap reduction due to structural distortion is 12.12%, 11.11% and 16.66% respectively. ► Band gap increases 8.38%, 3.70% and 21.31% respectively due to cation electronegativity.« less

VMSoar: a cognitive agent for network security

NASA Astrophysics Data System (ADS)

Benjamin, David P.; Shankar-Iyer, Ranjita; Perumal, Archana

2005-03-01

VMSoar is a cognitive network security agent designed for both network configuration and long-term security management. It performs automatic vulnerability assessments by exploring a configuration"s weaknesses and also performs network intrusion detection. VMSoar is built on the Soar cognitive architecture, and benefits from the general cognitive abilities of Soar, including learning from experience, the ability to solve a wide range of complex problems, and use of natural language to interact with humans. The approach used by VMSoar is very different from that taken by other vulnerability assessment or intrusion detection systems. VMSoar performs vulnerability assessments by using VMWare to create a virtual copy of the target machine then attacking the simulated machine with a wide assortment of exploits. VMSoar uses this same ability to perform intrusion detection. When trying to understand a sequence of network packets, VMSoar uses VMWare to make a virtual copy of the local portion of the network and then attempts to generate the observed packets on the simulated network by performing various exploits. This approach is initially slow, but VMSoar"s learning ability significantly speeds up both vulnerability assessment and intrusion detection. This paper describes the design and implementation of VMSoar, and initial experiments with Windows NT and XP.

A PDA-based flexible telecommunication system for telemedicine applications.

PubMed

Nazeran, Homer; Setty, Sunil; Haltiwanger, Emily; Gonzalez, Virgilio

2004-01-01

Technology has been used to deliver health care at a distance for many years. Telemedicine is a rapidly growing area and recently there are studies devoted to prehospital care of patients in emergency cases. In this work we have developed a compact, reliable, and low cost PDA-based telecommunication device for telemedicine applications to transmit audio, still images, and vital signs from a remote site to a fixed station such as a clinic or a hospital in real time. This was achieved based on a client-server architecture. A Pocket PC, a miniature camera, and a hands-free microphone were used at the client site and a desktop computer running the Windows XP operating system was used as a server. The server was located at a fixed station. The system was implemented on TCP/IP and HTTP protocol. Field tests have shown that the system can reliably transmit still images, audio, and sample vital signs from a simulated remote site to a fixed station either via a wired or wireless network in real time. The Pocket PC was used at the client site because of its compact size, low cost and processing capabilities.

MetNetMaker: a free and open-source tool for the creation of novel metabolic networks in SBML format.

PubMed

Forth, Thomas; McConkey, Glenn A; Westhead, David R

2010-09-15

An application has been developed to help with the creation and editing of Systems Biology Markup Language (SBML) format metabolic networks up to the organism scale. Networks are defined as a collection of Kyoto Encyclopedia of Genes and Genomes (KEGG) LIGAND reactions with an optional associated Enzyme Classification (EC) number for each reaction. Additional custom reactions can be defined by the user. Reactions within the network can be assigned flux constraints and compartmentalization is supported for each reaction in addition to the support for reactions that occur across compartment boundaries. Exported networks are fully SBML L2V4 compatible with an optional L2V1 export for compatibility with old versions of the COBRA toolbox. The software runs in the free Microsoft Access 2007 Runtime (Microsoft Inc.), which is included with the installer and works on Windows XP SP2 or better. Full source code is viewable in the full version of Access 2007 or 2010. Users must have a license to use the KEGG LIGAND database (free academic licensing is available). Please go to www.bioinformatics.leeds.ac.uk/~pytf/metnetmaker for software download, help and tutorials.

Dynamical calculations for RHEED intensity oscillations

NASA Astrophysics Data System (ADS)

Daniluk, Andrzej

2005-03-01

A practical computing algorithm working in real time has been developed for calculating the reflection high-energy electron diffraction from the molecular beam epitaxy growing surface. The calculations are based on the use of a dynamical diffraction theory in which the electrons are taken to be diffracted by a potential, which is periodic in the dimension perpendicular to the surface. The results of the calculations are presented in the form of rocking curves to illustrate how the diffracted beam intensities depend on the glancing angle of the incident beam. Program summaryTitle of program: RHEED Catalogue identifier:ADUY Program summary URL:http://cpc.cs.qub.ac.uk/summaries/ADUY Program obtainable from:CPC Program Library, Queen's University of Belfast, N. Ireland Computer for which the program is designed and others on which it has been tested: Pentium-based PC Operating systems or monitors under which the program has been tested: Windows 9x, XP, NT, Linux Programming language used: Borland C++ Memory required to execute with typical data: more than 1 MB Number of bits in a word: 64 bits Number of processors used: 1 Distribution format:tar.gz Number of lines in distributed program, including test data, etc.:982 Number of bytes in distributed program, including test data, etc.: 126 051 Nature of physical problem: Reflection high-energy electron diffraction (RHEED) is a very useful technique for studying growth and surface analysis of thin epitaxial structures prepared by the molecular beam epitaxy (MBE). Nowadays, RHEED is used in many laboratories all over the world where researchers deal with the growth of materials by MBE. The RHEED technique can reveal, almost instantaneously, changes either in the coverage of the sample surface by adsorbates or in the surface structure of a thin film. In most cases the interpretation of experimental results is based on the use of dynamical diffraction approaches. Such approaches are said to be quite useful in qualitative and quantitative analysis of RHEED experimental data. Method of solution: RHEED intensities are calculated within the framework of the general matrix formulation of Peng and Whelan [Surf. Sci. Lett. 238 (1990) L446] under the one-beam condition. The dynamical diffraction calculations presented in this paper utilize the systematic reflection case in RHEED, in which the atomic potential in the planes parallel to the surface are projected on the surface normal, so that the results are insensitive to the atomic arrangement in the layers parallel to the surface. This model shows a systematic approximation in calculating dynamical RHEED intensities, and only a layer coverage factor for the nth layer was taken into account in calculating the interaction potential between the fast electron and that layer. Typical running time: The typical running time is machine and user-parameters dependent. Unusual features of the program: The program is presented in the form of a basic unit RHEED.cpp and should be compiled using C++ compilers, including C++ Builder and g++.

Creating a Parallel Version of VisIt for Microsoft Windows

DOE Office of Scientific and Technical Information (OSTI.GOV)

Whitlock, B J; Biagas, K S; Rawson, P L

2011-12-07

VisIt is a popular, free interactive parallel visualization and analysis tool for scientific data. Users can quickly generate visualizations from their data, animate them through time, manipulate them, and save the resulting images or movies for presentations. VisIt was designed from the ground up to work on many scales of computers from modest desktops up to massively parallel clusters. VisIt is comprised of a set of cooperating programs. All programs can be run locally or in client/server mode in which some run locally and some run remotely on compute clusters. The VisIt program most able to harness today's computing powermore » is the VisIt compute engine. The compute engine is responsible for reading simulation data from disk, processing it, and sending results or images back to the VisIt viewer program. In a parallel environment, the compute engine runs several processes, coordinating using the Message Passing Interface (MPI) library. Each MPI process reads some subset of the scientific data and filters the data in various ways to create useful visualizations. By using MPI, VisIt has been able to scale well into the thousands of processors on large computers such as dawn and graph at LLNL. The advent of multicore CPU's has made parallelism the 'new' way to achieve increasing performance. With today's computers having at least 2 cores and in many cases up to 8 and beyond, it is more important than ever to deploy parallel software that can use that computing power not only on clusters but also on the desktop. We have created a parallel version of VisIt for Windows that uses Microsoft's MPI implementation (MSMPI) to process data in parallel on the Windows desktop as well as on a Windows HPC cluster running Microsoft Windows Server 2008. Initial desktop parallel support for Windows was deployed in VisIt 2.4.0. Windows HPC cluster support has been completed and will appear in the VisIt 2.5.0 release. We plan to continue supporting parallel VisIt on Windows so our users will be able to take full advantage of their multicore resources.« less

Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.

PubMed

Pettenati, M J; Rao, P N; Weaver, R G; Thomas, I T; McMahan, M R

1993-03-01

We report on a 4-generation family in which Norrie disease occurs together with a pericentric inversion of the X chromosome in all affected males and carrier females. The breakpoint in the short arm of the X chromosome appears to be at the purported location of the Norrie disease gene. This is the second report of an association between Norrie disease and a chromosome aberration involving Xp11, and the first report of a specific gene disruption, thus physical gene location, due to a pericentric chromosome inversion.

Wind-Tunnel Development of Ailerons for the Curtiss XP-60 Airplanem Special Report

NASA Technical Reports Server (NTRS)

Rogallo, F. M.; Lowry, John G.

1942-01-01

An investigation was made in the LWAL 7- by 10-foot tunnel of internally balanced, sealed ailerons for the Curtiss XP-60 airplane. Ailerons with tabs and. with various amounts of balance were tested. Stick forces were estimated for several aileron arrangements including an arrangement recommended for the airplane. Flight tests of the recommended arrangement are discussed briefly in an appendix, The results of the wind-tunnel and flight tests indicate that the ailerons of large or fast airplanes may be satisfactorily balanced by the method developed.

Investigation of the Flying Mock-Up of Consolidated Vultee XP-92 Airplane in the Ames 40- by 80-Foot Wind Tunnel: Pressure Distributions

NASA Technical Reports Server (NTRS)

Graham, David

1948-01-01

This report contains the results of the wind tunnel investigation of the pressure distribution on the flying mock-up of the Consolidated Vultee XP-92 airplane. Data are presented for the pressure distribution over the wing, vertical tail and the fuselage, and for the pressure loss and rate of flow through the ducted fuselage. Data are also presented for the calibration of two airspeed indicators, and for the calibration of angle-of-attack and sideslip-angle indicator vanes.

Automation of Cyber Penetration Testing Using the Detect, Identify, Predict, React Intelligence Automation Model

DTIC Science & Technology

2013-09-01

Ethical hacking & penetration testing,” University of Waterloo, Waterloo, Canada, 2011. [2] B. Jurjonas, “Smart selection and configuration of...Ettercap (XP) X X X X Wireshark X tshark X X Tethereal (XP) *Command line version of Ethereal * X X X X tcpdump X NetStumbler ( Wifi ) X X...Ethereal X X X dsniff X X X X Kismet ( Wifi ) X X X EtherApe X X X Netcat X X X X 2. Robustness Due to the limitations of the operating

Cutaneous metastases during an aggressive course of Xp11.2 translocation renal cell carcinoma in a teenager.

PubMed

Sudour-Bonnange, Helene; Leroy, Xavier; Chauvet, Marie-Pierre; Classe, Marion; Robin, P M; Leblond, Pierre

2014-09-01

We reported a rare case of cutaneous metastases of renal cell carcinoma (RCC) with an Xp11.2 translocation in a 15-year-old female. Clinicians should be aware of the possibility of this uncommon site of metastasis, which can indicate multivisceral dissemination of the disease. We discuss the feasibility and opportunity of treating such a patient with multiple line of tyrosine kinase inhibitor (TKI) targeting vascular endothelial and platelet-derived growth factor receptors. © 2014 Wiley Periodicals, Inc.

Markovian Queues with Arrival Dependence

DTIC Science & Technology

1976-03-01

adding together the three balance equations for P 2o’ ^21’ "^22 as ^°ll°ws ’ 1 20 2 21 <W P21= XP10 + *2P22 H- ( ^ l^ 2 )p22 = Xp11 "lP20 +UlP21 +V22...REPORT DOCUMENTATION PAGE READ INSTRUCTIONSBEFORE COMPLETING FORM 1 REPORT NUMBER 2 . GOVT ACCESSION NO. 3. RECIPIENT’S CATALOG NUMBER 4. TITLE (and...ADDITIONAL FACTS CONCERNING THE TRANSIENT DISTRIBUTION OF WAITING TIMES FOR ARRIVING CUSTOMERS 2 ? IV. THE TWO CHANNEL SERVER QUEUE WITH SINGLE

Early Risk Reduction Phase 1 FLIR/Laser Designator Window. Revision

DTIC Science & Technology

1991-12-31

Sandwich-Type FLIR Windows," Air Force AFWAL-TR-83- 4122, Nov 1983. 4-1 Hughes Danbury Optical Systems Final Report, "ATA Window Technology Program," PRBll...Risk Reduction -- Phase I, Optical Properties Measurement Techniques of Three Wide Band Window Materials," 22 August 1991. xii I i 86PR0869 30... Optical Systems, Lexington, MA, 02173, 1 Feb 1991. 5-7 McDonnell Aircraft Company Technical Memorandum TM 256.91.0056.01, "Early Risk Reduction -- Phase