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Sample records for laboratory deleted version

  1. Physical Science Laboratory Manual, Experimental Version.

    ERIC Educational Resources Information Center

    Cooperative General Science Project, Atlanta, GA.

    Provided are physical science laboratory experiments which have been developed and used as a part of an experimental one year undergraduate course in general science for non-science majors. The experiments cover a limited number of topics representative of the scientific enterprise. Some of the topics are pressure and buoyancy, heat, motion,…

  2. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (SILICON GRAPHICS VERSION)

    NASA Technical Reports Server (NTRS)

    Walters, D.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  3. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (CONCURRENT VERSION)

    NASA Technical Reports Server (NTRS)

    Pearson, R. W.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  4. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (SUN VERSION)

    NASA Technical Reports Server (NTRS)

    Walters, D.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  5. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (DEC VAX VERSION)

    NASA Technical Reports Server (NTRS)

    Junkin, B. G.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  6. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (MASSCOMP VERSION)

    NASA Technical Reports Server (NTRS)

    Walters, D.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  7. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (CONCURRENT VERSION)

    NASA Technical Reports Server (NTRS)

    Pearson, R. W.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  8. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (DEC VAX VERSION)

    NASA Technical Reports Server (NTRS)

    Junkin, B. G.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  9. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (MASSCOMP VERSION)

    NASA Technical Reports Server (NTRS)

    Walters, D.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  10. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (SUN VERSION)

    NASA Technical Reports Server (NTRS)

    Walters, D.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  11. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (SILICON GRAPHICS VERSION)

    NASA Technical Reports Server (NTRS)

    Walters, D.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  12. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (MASSCOMP VERSION)

    NASA Technical Reports Server (NTRS)

    Walters, D.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  13. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (DEC VAX VERSION)

    NASA Technical Reports Server (NTRS)

    Junkin, B. G.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  14. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (SILICON GRAPHICS VERSION)

    NASA Technical Reports Server (NTRS)

    Walters, D.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  15. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (CONCURRENT VERSION)

    NASA Technical Reports Server (NTRS)

    Pearson, R. W.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  16. ELAS - SCIENCE & TECHNOLOGY LABORATORY APPLICATIONS SOFTWARE (SUN VERSION)

    NASA Technical Reports Server (NTRS)

    Walters, D.

    1994-01-01

    The Science and Technology Laboratory Applications Software (ELAS) was originally designed to analyze and process digital imagery data, specifically remotely-sensed scanner data. This capability includes the processing of Landsat multispectral data; aircraft-acquired scanner data; digitized topographic data; and numerous other ancillary data, such as soil types and rainfall information, that can be stored in digitized form. ELAS has the subsequent capability to geographically reference this data to dozens of standard, as well as user created projections. As an integrated image processing system, ELAS offers the user of remotely-sensed data a wide range of capabilities in the areas of land cover analysis and general purpose image analysis. ELAS is designed for flexible use and operation and includes its own FORTRAN operating subsystem and an expandable set of FORTRAN application modules. Because all of ELAS resides in one "logical" FORTRAN program, data inputs and outputs, directives, and module switching are convenient for the user. There are over 230 modules presently available to aid the user in performing a wide range of land cover analyses and manipulation. The file management modules enable the user to allocate, define, access, and specify usage for all types of files (ELAS files, subfiles, external files etc.). Various other modules convert specific types of satellite, aircraft, and vector-polygon data into files that can be used by other ELAS modules. The user also has many module options which aid in displaying image data, such as magnification/reduction of the display; true color display; and several memory functions. Additional modules allow for the building and manipulation of polygonal areas of the image data. Finally, there are modules which allow the user to select and classify the image data. An important feature of the ELAS subsystem is that its structure allows new applications modules to be easily integrated in the future. ELAS has as a standard

  17. Terminology of developmental abnormalities in common laboratory mammals (version 1).

    PubMed

    Wise, L D; Beck, S L; Beltrame, D; Beyer, B K; Chahoud, I; Clark, R L; Clark, R; Druga, A M; Feuston, M H; Guittin, P; Henwood, S M; Kimmel, C A; Lindstrom, P; Palmer, A K; Petrere, J A; Solomon, H M; Yasuda, M; York, R G

    1997-04-01

    This paper presents the first version of an internationally-developed glossary of terms for structural developmental abnormalities in common laboratory animals. The glossary is put forward by the International Federation of Teratology Societies (IFTS) Committee on International Harmonization of Nomenclature in Developmental Toxicology, and represents considerable progress toward harmonization of terminology in this area. The purpose of this effort is to provide a common vocabulary that will reduce confusion and ambiguity in the description of developmental effects, particularly in submissions to regulatory agencies worldwide. The glossary contains a primary term or phrase, a definition of the abnormality, and notes, where appropriate. Selected synonyms or related terms, which reflect a similar or closely related concept, are noted. Nonpreferred terms are indicated where their usage may be incorrect. Modifying terms used repeatedly in the glossary (e.g., absent, branched) are listed and defined separately, instead of repeating their definitions for each observation. Syndrome names are generally excluded from the glossary, but are listed separately in an appendix. The glossary is organized into broad sections for external, visceral, and skeletal observations, then subdivided into regions, structures, or organs in a general overall head to tail sequence. Numbering is sequential, and not in any regional or hierarchical order. Uses and misuses of the glossary are discussed. Comments, questions, suggestions, and additions from practitioners in the field of developmental toxicology are welcomed on the organization of the glossary as well as on the specific terms and definitions. Updates of the glossary are planned based on the comments received.

  18. BRLGRAY: The Ballistic Research Laboratory Version of the GRAY Equation of State

    DTIC Science & Technology

    1980-08-01

    GN TECHNICAL REPORT ARBRL-TR-02258 BRLGRAY: THE BALLISTIC RESEARCH LABORATORY I VERSION OF THE GRAY EQUATION OF STATE Joseph F. Lacetera August 1980...Laboratory_______________ Version of the Gray Equation of State 6. PERFORMING ORG. REPORT NUMBER 7. AUTHOR(q) S. CONTRACT OR GRANT NUMBER(a) 9. PERFORMING...from Report) IS. SUPPLEMENTARY NOTES 19. KEY WORDS (Continue on reverse side if necessary ad identify by block number) Equation of State GRAY BRLGRAY

  19. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory

    SciTech Connect

    Shaffer, L.G.; Kennedy, G.M.; Spikes, A.S.

    1997-03-31

    Charcot-Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle wasting and weakness, decreased nerve conduction velocities, and genetic linkage to 17p12. Most (>98%) CMT1A cases are caused by a DNA duplication of a 1.5-Mb region in 17p12 containing the PMP22 gene. The reciprocal product of the CMT1A duplication is a 1.5-Mb deletion which causes hereditary neuropathy with liability to pressure palsies (HNPP). The most informative current diagnostic testing requires pulsed-field gel electrophoresis to detect DNA rearrangement-specific junction fragments. We investigated the use of interphase FISH for the detection of duplications and deletions for these disorders in the clinical molecular cytogenetics laboratory. Established cell lines or blood specimens from 23 individuals with known molecular diagnoses and 10 controls were obtained and scored using a two-color FISH assay. At least 70%, of CMT1A cells displayed three signals consistent with duplications. Using this minimum expected percentile to make a CMT1A duplication diagnosis, all patients with CMT1A showed a range of 71-92% of cells displaying at least three signals. Of the HNPP cases, 88% of cells displayed only one hybridization signal, consistent with deletions. The PMP22 locus from normal control individuals displayed a duplication pattern in {approximately}9% of cells, interpreted as replication of this locus. The percentage of cells showing replication was significantly lower than in those cells displaying true duplications. We conclude that FISH can be reliably used to diagnose CMT1A and HNPP in the clinical cytogenetics laboratory and to readily distinguish the DNA rearrangements associated with these disorders from individuals without duplication or deletion of the PMP22 locus. 43 refs., 4 figs., 2 tabs.

  20. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.

    PubMed

    Shaffer, L G; Kennedy, G M; Spikes, A S; Lupski, J R

    1997-03-31

    Charcot-Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle wasting and weakness, decreased nerve conduction velocities, and genetic linkage to 17p12. Most (> 98%) CMT1A cases are caused by a DNA duplication of a 1.5-Mb region in 17p12 containing the PMP22 gene. The reciprocal product of the CMT1A duplication is a 1.5-Mb deletion which causes hereditary neuropathy with liability to pressure palsies (HNPP). The most informative current diagnostic testing requires pulsed-field gel electrophoresis to detect DNA rearrangement-specific junction fragments. We investigated the use of interphase FISH for the detection of duplications and deletions for these disorders in the clinical molecular cytogenetics laboratory. Established cell lines or blood specimens from 23 individuals with known molecular diagnoses and 10 controls were obtained and scored using a two-color FISH assay. At least 70% of CMT1A cells displayed three signals consistent with duplications. Using this minimum expected percentile to make a CMT1A duplication diagnosis, all patients with CMT1A showed a range of 71-92% of cells displaying at least three signals. Of the HNPP cases, 88% of cells displayed only one hybridization signal, consistent with deletions. The PMP22 locus from normal control individuals displayed a duplication pattern in approximately 9% of cells, interpreted as replication of this locus. The percentage of cells showing replication was significantly lower than in those cells displaying true duplications. We conclude that FISH can be reliably used to diagnose CMT1A and HNPP in the clinical cytogenetics laboratory and to readily distinguish the DNA rearrangements associated with these disorders from individuals without duplication or deletion of the PMP22 locus.

  1. 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening

    PubMed Central

    Sgardioli, Ilária C.; Vieira, Társis P.; Simioni, Milena; Monteiro, Fabíola P.; Gil-da-Silva-Lopes, Vera L.

    2015-01-01

    Velocardiofacial syndrome is one of the recognized forms of chromosome 22q11.2 deletion syndrome (22q11.2 DS) and has an incidence of 1 of 4,000 to 1 of 6,000 births. Nevertheless, the 22q11 deletion is not found in several patients with a 22q11.2 DS phenotype. In this situation, other chromosomal aberrations and/or mutations in the T-box 1 transcription factor C (TBX1) gene have been detected in some patients. A similar phenotype to that of the 22q11.2 DS has been reported in animal models with mutations in fibroblast growth factor 8 (Fgf8) gene. To date, FGF8 mutations have not been investigated in humans. We tested a strategy to perform laboratory testing to reduce costs in the investigation of patients presenting with the 22q11.2 DS phenotype. A total of 109 individuals with clinical suspicion were investigated using GTG-banding karyotype, fluorescence in situ hybridization, and/or multiplex ligation-dependent probe amplification. A conclusive diagnosis was achieved in 33 of 109 (30.2%) cases. In addition, mutations in the coding regions of TBX1 and FGF8 genes were investigated in selected cases where 22q11.2 deletion had been excluded, and no pathogenic mutations were detected in both genes. This study presents a strategy for molecular genetic characterization of patients presenting with the 22q11.2 DS using different laboratory techniques. This strategy could be useful in different countries, according to local resources. Also, to our knowledge, this is the first investigation of FGF8 gene in humans with this clinical suspicion. PMID:27617111

  2. The European Register of Specialists in Clinical Chemistry and Laboratory Medicine: Code of Conduct, Version 2--2008.

    PubMed

    McMurray, Janet; Zerah, Simone; Hallworth, Michael; Koeller, Ursula; Blaton, Victor; Tzatchev, Kamen; Charilaou, Charis; Racek, Jaroslav; Johnsen, Anders; Tomberg, Karel; Harmoinen, Aimo; Baum, Hannsjörg; Rizos, Demetrios; Kappelmayer, Janos; O'Mullane, John; Nubile, Giuseppe; Pupure, Silvija; Kucinskiene, Zita; Opp, Matthias; Huisman, Wim; Solnica, Bogdan; Reguengo, Henrique; Grigore, Camelia; Spanár, Július; Strakl, Greta; Queralto, Josep; Wallinder, Hans; Schuff-Werner, Peter

    2009-01-01

    In 1997, the European Communities Confederation of Clinical Chemistry and Laboratory Medicine (EC4) set up a Register for European Specialists in Clinical Chemistry and Laboratory Medicine. The operation of the Register is undertaken by a Register Commission (EC4RC). During the last 10 years, more than 2000 specialists in Clinical Chemistry and Laboratory Medicine have joined the Register. In 2007, EC4 merged with the Federation of European Societies of Clinical Chemistry and Laboratory Medicine (FESCC) to form the European Federation of Clinical Chemistry and Laboratory Medicine (EFCC). A Code of Conduct was adopted in 2003 and a revised and updated version, taking account particularly of the guidelines of the Conseil Européen des Professions Libérales (CEPLIS) of which EFCC is a member, is presented in this article. The revised version was approved by the EC4 Register Commission and by the EFCC Executive Board in Paris on 6 November, 2008.

  3. The European Register of Specialists in Clinical Chemistry and Laboratory Medicine: guide to the Register, version 3-2010.

    PubMed

    McMurray, Janet; Zérah, Simone; Hallworth, Michael; Schuff-Werner, Peter; Haushofer, Alexander; Szekeres, Thomas; Wallemacq, Pierre; Tzatchev, Kamen; Charilaou, Charis; Racek, Jaroslav; Johnsen, Anders; Tomberg, Karel; Harmoinen, Aimo; Baum, Hannsjörg; Rizos, Demetrios; Kappelmayer, Janos; O'Mullane, John; Nubile, Giuseppe; Pupure, Silvija; Kucinskiene, Zita; Opp, Matthias; Jansen, Rob; Solnica, Bogdan; Reguengo, Henrique; Grigore, Camelia; Spanár, Július; Strakl, Greta; Queralto, Josep; Wallinder, Hans; Wieringa, Gijsbert

    2010-07-01

    In 1997, the European Communities Confederation of Clinical Chemistry and Laboratory Medicine (EC4) set up a Register for European Specialists in Clinical Chemistry and Laboratory Medicine. The operation of the Register is undertaken by a Register Commission (EC4RC). During the last 12 years, more than 2200 specialists in Clinical Chemistry and Laboratory Medicine have joined the Register. In 2007, EC4 merged with the Forum of European Societies of Clinical Chemistry and Laboratory Medicine (FESCC) to form the European Federation of Clinical Chemistry and Laboratory Medicine (EFCC). Two previous Guides to the Register have been published, one in 1997 and another in 2003. The third version of the Guide is presented in this article and is based on the experience gained and development of the profession since the last revision. Registration is valid for 5 years and the procedure and criteria for re-registration are presented as an Appendix at the end of the article.

  4. Laboratory Guide for Residual Stress Sample Alignment and Experiment Planning-October 2011 Version

    SciTech Connect

    Cornwell, Paris A; Bunn, Jeffrey R; Schmidlin, Joshua E; Hubbard, Camden R

    2012-04-01

    The December 2010 version of the guide, ORNL/TM-2008/159, by Jeff Bunn, Josh Schmidlin, Camden Hubbard, and Paris Cornwell, has been further revised due to a major change in the GeoMagic Studio software for constructing a surface model. The Studio software update also includes a plug-in module to operate the FARO Scan Arm. Other revisions for clarity were also made. The purpose of this revision document is to guide the reader through the process of laser alignment used by NRSF2 at HFIR and VULCAN at SNS. This system was created to increase the spatial accuracy of the measurement points in a sample, reduce the use of neutron time used for alignment, improve experiment planning, and reduce operator error. The need for spatial resolution has been driven by the reduction in gauge volumes to the sub-millimeter level, steep strain gradients in some samples, and requests to mount multiple samples within a few days for relating data from each sample to a common sample coordinate system. The first step in this process involves mounting the sample on an indexer table in a laboratory set up for offline sample mounting and alignment in the same manner it would be mounted at either instrument. In the shared laboratory, a FARO ScanArm is used to measure the coordinates of points on the sample surface ('point cloud'), specific features and fiducial points. A Sample Coordinate System (SCS) needs to be established first. This is an advantage of the technique because the SCS can be defined in such a way to facilitate simple definition of measurement points within the sample. Next, samples are typically mounted to a frame of 80/20 and fiducial points are attached to the sample or frame then measured in the established sample coordinate system. The laser scan probe on the ScanArm can then be used to scan in an 'as-is' model of the sample as well as mounting hardware. GeoMagic Studio 12 is the software package used to construct the model from the point cloud the scan arm creates. Once

  5. Environmental Molecular Sciences Laboratory Operations System: Version 4.0 - system requirements specification

    SciTech Connect

    Kashporenko, D.

    1996-07-01

    This document is intended to provide an operations standard for the Environmental Molecular Sciences Laboratory OPerations System (EMSL OPS). It is directed toward three primary audiences: (1) Environmental Molecular Sciences Laboratory (EMSL) facility and operations personnel; (2) laboratory line managers and staff; and (3) researchers, equipment operators, and laboratory users. It is also a statement of system requirements for software developers of EMSL OPS. The need for a finely tuned, superior research environment as provided by the US Department of Energy`s (DOE) Environmental Molecular Sciences Laboratory has never been greater. The abrupt end of the Cold War and the realignment of national priorities caused major US and competing overseas laboratories to reposition themselves in a highly competitive research marketplace. For a new laboratory such as the EMSL, this means coming into existence in a rapidly changing external environment. For any major laboratory, these changes create funding uncertainties and increasing global competition along with concomitant demands for higher standards of research product quality and innovation. While more laboratories are chasing fewer funding dollars, research ideas and proposals, especially for molecular-level research in the materials and biological sciences, are burgeoning. In such an economically constrained atmosphere, reduced costs, improved productivity, and strategic research project portfolio building become essential to establish and maintain any distinct competitive advantage. For EMSL, this environment and these demands require clear operational objectives, specific goals, and a well-crafted strategy. Specific goals will evolve and change with the evolution of the nature and definition of DOE`s environmental research needs. Hence, EMSL OPS is designed to facilitate migration of these changes with ease into every pertinent job function, creating a facile {open_quotes}learning organization.{close_quotes}

  6. EC4 European Syllabus for Post-Graduate Training in Clinical Chemistry and Laboratory Medicine: version 3 - 2005.

    PubMed

    Zerah, Simone; McMurray, Janet; Bousquet, Bernard; Baum, Hannsjorg; Beastall, Graham H; Blaton, Vic; Cals, Marie-Josèphe; Duchassaing, Danielle; Gaudeau-Toussaint, Marie-Françoise; Harmoinen, Aimo; Hoffmann, Hans; Jansen, Rob T; Kenny, Desmond; Kohse, Klaus P; Köller, Ursula; Gobert, Jean-Gérard; Linget, Christine; Lund, Erik; Nubile, Giuseppe; Opp, Matthias; Pazzagli, Mario; Pinon, Georges; Queralto, José M; Reguengo, Henrique; Rizos, Demetrios; Szekeres, Thomas; Vidaud, Michel; Wallinder, Hans

    2006-01-01

    The EC4 Syllabus for Postgraduate Training is the basis for the European Register of Specialists in Clinical Chemistry and Laboratory Medicine. The syllabus: Indicates the level of requirements in postgraduate training to harmonise the postgraduate education in the European Union (EU); Indicates the level of content of national training programmes to obtain adequate knowledge and experience; Is approved by all EU societies for clinical chemistry and laboratory medicine. The syllabus is not primarily meant to be a training guide, but on the basis of the overview given (common minimal programme), national societies should formulate programmes that indicate where knowledge and experience is needed. The main points of this programme are: Indicates the level of requirements in postgraduate training to harmonise the postgraduate education in the European Union (EU); Indicates the level of content of national training programmes to obtain adequate knowledge and experience; Is approved by all EU societies for clinical chemistry and laboratory medicine. Knowledge in biochemistry, haematology, immunology, etc.; Pre-analytical conditions; Evaluation of results; Interpretations (post-analytical phase); Laboratory management; and Quality insurance management. The aim of this version of the syllabus is to be in accordance with the Directive of Professional Qualifications published on 30 September 2005. To prepare the common platforms planned in this directive, the disciplines are divided into four categories: Indicates the level of requirements in postgraduate training to harmonise the postgraduate education in the European Union (EU); Indicates the level of content of national training programmes to obtain adequate knowledge and experience; Is approved by all EU societies for clinical chemistry and laboratory medicine. Knowledge in biochemistry, haematology, immunology, etc.; Pre-analytical conditions; Evaluation of results; Interpretations (post-analytical phase); Laboratory

  7. Department of Defense Quality Systems Manual for Environmental Laboratories. Version 1

    DTIC Science & Technology

    2000-10-01

    of the standard dilution water used for testing or culturing must be sufficient to allow satisfactory survival, growth and reproduction of the test...for toxic metals and organics whenever the minimum acceptability criteria for control survival, growth or reproduction are not met and no other cause...and reproduction of the test species as demonstrated by routine reference toxicant tests and negative control performance. The laboratory shall have

  8. Characterization of Clinical and Laboratory Profiles of the Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA- -) in an Indian Population.

    PubMed

    Deshpande, Prashant; Kamalanathan, Neelagandan; Sampath, Eswari; George, Biju; Shaji, Ramachandran V; Edison, Eunice S

    2015-01-01

    α-Thalassemia (α-thal) is characterized by large deletions involving the variable regions of α2 and/or α1 genes. Nondeletional mutations and polyadenylation (polyA) signal sequence motif mutations are less common. In this retrospective study, we describe a fragment length analysis-based polymerase chain reaction (PCR) assay for screening the T(Indian) (AATAAA > AATA- -; HBA2: c.*93_*94delAA) polyA signal deletion along with its clinical and laboratory presentation in 21 patients. Most of the patients were diagnosed in early adulthood with a clinical presentation ranging from asymptomatic in the heterozygous state to severe Hb H disease with a prominent hemolytic component in the homozygous state. On genetic analysis, 14 patients were found to be homozygotes, five were compound heterozygotes and two were heterozygotes. Thus, the T(Indian) polyA signal deletion is common in the Indian population and should be screened for in patients with nondeletional α-thal mutations.

  9. The Marine Virtual Laboratory (version 2.1): enabling efficient ocean model configuration

    NASA Astrophysics Data System (ADS)

    Oke, Peter R.; Proctor, Roger; Rosebrock, Uwe; Brinkman, Richard; Cahill, Madeleine L.; Coghlan, Ian; Divakaran, Prasanth; Freeman, Justin; Pattiaratchi, Charitha; Roughan, Moninya; Sandery, Paul A.; Schaeffer, Amandine; Wijeratne, Sarath

    2016-09-01

    The technical steps involved in configuring a regional ocean model are analogous for all community models. All require the generation of a model grid, preparation and interpolation of topography, initial conditions, and forcing fields. Each task in configuring a regional ocean model is straightforward - but the process of downloading and reformatting data can be time-consuming. For an experienced modeller, the configuration of a new model domain can take as little as a few hours - but for an inexperienced modeller, it can take much longer. In pursuit of technical efficiency, the Australian ocean modelling community has developed the Web-based MARine Virtual Laboratory (WebMARVL). WebMARVL allows a user to quickly and easily configure an ocean general circulation or wave model through a simple interface, reducing the time to configure a regional model to a few minutes. Through WebMARVL, a user is prompted to define the basic options needed for a model configuration, including the model, run duration, spatial extent, and input data. Once all aspects of the configuration are selected, a series of data extraction, reprocessing, and repackaging services are run, and a "take-away bundle" is prepared for download. Building on the capabilities developed under Australia's Integrated Marine Observing System, WebMARVL also extracts all of the available observations for the chosen time-space domain. The user is able to download the take-away bundle and use it to run the model of his or her choice. Models supported by WebMARVL include three community ocean general circulation models and two community wave models. The model configuration from the take-away bundle is intended to be a starting point for scientific research. The user may subsequently refine the details of the model set-up to improve the model performance for the given application. In this study, WebMARVL is described along with a series of results from test cases comparing WebMARVL-configured models to observations

  10. A guide for the laboratory information management system (LIMS) for light stable isotopes--Versions 7 and 8

    USGS Publications Warehouse

    Coplen, Tyler B.

    2000-01-01

    The reliability and accuracy of isotopic data can be improved by utilizing database software to (i) store information about samples, (ii) store the results of mass spectrometric isotope-ratio analyses of samples, (iii) calculate analytical results using standardized algorithms stored in a database, (iv) normalize stable isotopic data to international scales using isotopic reference materials, and (v) generate multi-sheet paper templates for convenient sample loading of automated mass-spectrometer sample preparation manifolds. Such a database program, the Laboratory Information Management System (LIMS) for Light Stable Isotopes, is presented herein. Major benefits of this system include (i) a dramatic improvement in quality assurance, (ii) an increase in laboratory efficiency, (iii) a reduction in workload due to the elimination or reduction of retyping of data by laboratory personnel, and (iv) a decrease in errors in data reported to sample submitters. Such a database provides a complete record of when and how often laboratory reference materials have been analyzed and provides a record of what correction factors have been used through time. It provides an audit trail for laboratories. LIMS for Light Stable Isotopes is available for both Microsoft Office 97 Professional and Microsoft Office 2000 Professional as versions 7 and 8, respectively. Both source code (mdb file) and precompiled executable files (mde) are available. Numerous improvements have been made for continuous flow isotopic analysis in this version (specifically 7.13 for Microsoft Access 97 and 8.13 for Microsoft Access 2000). It is much easier to import isotopic results from Finnigan ISODAT worksheets, even worksheets on which corrections for amount of sample (linearity corrections) have been added. The capability to determine blank corrections using isotope mass balance from analyses of elemental analyzer samples has been added. It is now possible to calculate and apply drift corrections to isotopic

  11. How is Version 6 different than earlier versions?

    Atmospheric Science Data Center

    2015-10-28

    ... integrated a priori CO profile. Second, the diagnostic 'Water Vapor Climatology Content' has been deleted. This diagnostic was included ... More details can be found in the: MOPITT (Measurements of Pollution in the Troposphere) Version 6 Product User's Guide: ...

  12. Generation and Characterization of Knock-in Mouse Models Expressing Versions of Huntingtin with Either an N17 or a Combined PolyQ and Proline-Rich Region Deletion.

    PubMed

    André, Emily A; Braatz, Elise M; Liu, Jeh-Ping; Zeitlin, Scott O

    2017-01-01

    The polyglutamine (polyQ) stretch of the Huntingtin protein (HTT) in mammals is flanked by a highly conserved 17 amino acid N-terminal domain (N17), and a proline-rich region (PRR). The PRR is a binding site for many HTT-interacting proteins, and the N17 domain regulates several normal HTT functions, including HTT's ability to associate with membranes and organelles. This study investigates the consequence of deleting mouse Huntingtin's (Htt's) N17 domain or a combination of its polyQ stretch and PRR (QP) on normal Htt function in mice. Knock-in mice expressing versions of Htt lacking either the N17 domain (HttΔN17) or both the polyQ and PRR domains (HttΔQP) were generated, and their behavior, autophagy function, and neuropathology were evaluated. Homozygous and hemizygous HttΔQP/ΔQP, HttΔN17/ΔN17, HttΔQP/-, and HttΔN17/- mice were generated at the expected Mendelian frequency. HttΔQP/ΔQP mutants exhibit improvements in motor coordination compared to controls (Htt+/+). In contrast, HttΔN17/ΔN17 mutants do not exhibit any changes in motor coordination, but they do display variable changes in spatial learning that are dependent on their age at testing. Neither mutant exhibited any changes in basal autophagy in comparison to controls, but thalamostriatal synapses in the dorsal striatum of 24-month-old HttΔN17/ΔN17 mice were decreased compared to controls. These findings support the hypothesis that Htt's N17 and QP domains are dispensable for its critical functions during early embryonic development, but are likely more important for Htt functions in CNS development or maintenance.

  13. The Infant Version of the Laboratory Temperament Assessment Battery (Lab-TAB): Measurement Properties and Implications for Concepts of Temperament

    PubMed Central

    Planalp, Elizabeth M.; Van Hulle, Carol; Gagne, Jeffrey R.; Goldsmith, H. Hill

    2017-01-01

    We describe large-sample research using the Infant Laboratory Temperament Assessment Battery (Lab-TAB; Goldsmith and Rothbart, 1996) in 1,076 infants at 6 and 12 months of age. The Lab-TAB was designed to assess temperament dimensions through a series of episodes that mimic everyday situations. Our goal is to provide guidelines for scoring Lab-TAB episodes to derive temperament composites. We also present a set of analyses examining mean differences and stability of temperament in early infancy, gender differences in infant temperament, as well as a validation of Lab-TAB episodes and composites with parent reported Infant Behavior Questionnaire (IBQ; Rothbart, 1981) scales. In general, laboratory observed temperament was only modestly related to parent reported temperament. However, temperament measures were significantly stable across time and several gender differences that align with previous research emerged. In sum, the Lab-TAB usefully assesses individual differences in infant emotionality. PMID:28596748

  14. The Infant Version of the Laboratory Temperament Assessment Battery (Lab-TAB): Measurement Properties and Implications for Concepts of Temperament.

    PubMed

    Planalp, Elizabeth M; Van Hulle, Carol; Gagne, Jeffrey R; Goldsmith, H Hill

    2017-01-01

    We describe large-sample research using the Infant Laboratory Temperament Assessment Battery (Lab-TAB; Goldsmith and Rothbart, 1996) in 1,076 infants at 6 and 12 months of age. The Lab-TAB was designed to assess temperament dimensions through a series of episodes that mimic everyday situations. Our goal is to provide guidelines for scoring Lab-TAB episodes to derive temperament composites. We also present a set of analyses examining mean differences and stability of temperament in early infancy, gender differences in infant temperament, as well as a validation of Lab-TAB episodes and composites with parent reported Infant Behavior Questionnaire (IBQ; Rothbart, 1981) scales. In general, laboratory observed temperament was only modestly related to parent reported temperament. However, temperament measures were significantly stable across time and several gender differences that align with previous research emerged. In sum, the Lab-TAB usefully assesses individual differences in infant emotionality.

  15. The EC4 European syllabus for post-graduate training in clinical chemistry and laboratory medicine: version 4--2012.

    PubMed

    Wieringa, Gijsbert; Zerah, Simone; Jansen, Rob; Simundic, Ana-Maria; Queralto, José; Solnica, Bogdan; Gruson, Damien; Tomberg, Karel; Riittinen, Leena; Baum, Hannsjörg; Brochet, Jean-Philippe; Buhagiar, Gerald; Charilaou, Charis; Grigore, Camelia; Johnsen, Anders H; Kappelmayer, Janos; Majkic-Singh, Nada; Nubile, Giuseppe; O'Mullane, John; Opp, Matthias; Pupure, Silvija; Racek, Jaroslav; Reguengo, Henrique; Rizos, Demetrios; Rogic, Dunja; Špaňár, Július; Štrakl, Greta; Szekeres, Thomas; Tzatchev, Kamen; Vitkus, Dalius; Wallemacq, Pierre; Wallinder, Hans

    2012-08-01

    Laboratory medicine's practitioners across the European community include medical, scientific and pharmacy trained specialists whose contributions to health and healthcare is in the application of diagnostic tests for screening and early detection of disease, differential diagnosis, monitoring, management and treatment of patients, and their prognostic assessment. In submitting a revised common syllabus for post-graduate education and training across the 27 member states an expectation is set for harmonised, high quality, safe practice. In this regard an extended 'Core knowledge, skills and competencies' division embracing all laboratory medicine disciplines is described. For the first time the syllabus identifies the competencies required to meet clinical leadership demands for defining, directing and assuring the efficiency and effectiveness of laboratory services as well as expectations in translating knowledge and skills into ability to practice. In a 'Specialist knowledge' division, the expectations from the individual disciplines of Clinical Chemistry/Immunology, Haematology/Blood Transfusion, Microbiology/ Virology, Genetics and In Vitro Fertilisation are described. Beyond providing a common platform of knowledge, skills and competency, the syllabus supports the aims of the European Commission in providing safeguards to increasing professional mobility across European borders at a time when demand for highly qualified professionals is increasing and the labour force is declining. It continues to act as a guide for the formulation of national programmes supplemented by the needs of individual country priorities.

  16. Sandia National Laboratories Advanced Simulation and Computing (ASC) software quality plan : ASC software quality engineering practices Version 3.0.

    SciTech Connect

    Turgeon, Jennifer L.; Minana, Molly A.; Hackney, Patricia; Pilch, Martin M.

    2009-01-01

    The purpose of the Sandia National Laboratories (SNL) Advanced Simulation and Computing (ASC) Software Quality Plan is to clearly identify the practices that are the basis for continually improving the quality of ASC software products. Quality is defined in the US Department of Energy/National Nuclear Security Agency (DOE/NNSA) Quality Criteria, Revision 10 (QC-1) as 'conformance to customer requirements and expectations'. This quality plan defines the SNL ASC Program software quality engineering (SQE) practices and provides a mapping of these practices to the SNL Corporate Process Requirement (CPR) 001.3.6; 'Corporate Software Engineering Excellence'. This plan also identifies ASC management's and the software project teams responsibilities in implementing the software quality practices and in assessing progress towards achieving their software quality goals. This SNL ASC Software Quality Plan establishes the signatories commitments to improving software products by applying cost-effective SQE practices. This plan enumerates the SQE practices that comprise the development of SNL ASC's software products and explains the project teams opportunities for tailoring and implementing the practices.

  17. A spatially-dynamic preliminary risk assessment of the American peregrine falcon at the Los Alamos National Laboratory (version 1)

    SciTech Connect

    Gallegos, A.F.; Gonzales, G.J.; Bennett, K.D.

    1997-06-01

    The Endangered Species Act and the Record of Decision on the Dual Axis Radiographic Hydrodynamic Test Facility at the Los Alamos National Laboratory require protection of the American peregrine falcon. A preliminary risk assessment of the peregrine was performed using a custom FORTRAN model and a geographical information system. Estimated doses to the falcon were compared against toxicity reference values to generate hazard indices. Hazard index results indicated no unacceptable risk to the falcon from the soil ingestion pathway, including a measure of cumulative effects from multiple contaminants that assumes a linear additive toxicity type. Scaling home ranges on the basis of maximizing falcon height for viewing prey decreased estimated risk by 69% in a canyons-based home range and increased estimated risk by 40% in a river-based home range. Improving model realism by weighting simulated falcon foraging based on distance from potential nest sites decreased risk by 93% in one exposure unit and by 82% in a second exposure unit. It was demonstrated that choice of toxicity reference values can have a substantial impact on risk estimates. Adding bioaccumulation factors for several organics increased partial hazard quotients by a factor of 110, but increased the mean hazard index by only 0.02 units. Adding a food consumption exposure pathway in the form of biomagnification factors for 15 contaminants of potential ecological concern increased the mean hazard index to 1.16 ({+-} 1.0), which is above the level of acceptability (1.0). Aroclor-1254, dichlorodiphenyltrichlorethane (DDT) and dichlorodiphenylethelyne (DDE) accounted for 81% of the estimated risk that includes soil ingestion and food consumption Contaminant pathways and a biomagnification component. Information on risk by specific geographical location was generated, which can be used to manage contaminated areas, falcon habitat, facility siting, and/or facility operations. 123 refs., 10 figs., 2 tabs.

  18. Biomedical Science, Unit I: Respiration in Health and Medicine. Respiratory Anatomy, Physiology and Pathology; The Behavior of Gases; Introductory Chemistry; and Air Pollution. Laboratory Manual. Revised Version, 1975.

    ERIC Educational Resources Information Center

    Biomedical Interdisciplinary Curriculum Project, Berkeley, CA.

    Designed to accompany the student text on respiration, this manual presents instructions on the use of laboratory equipment and presents various experiments dealing with the concepts presented in the text. Thirty-nine laboratory activities are described. Laboratory activities are divided into several parts, each part covering a specific experiment…

  19. Identification of a male meiosis-specific gene, Tcte2, which is differentially spliced in species that form sterile hybrids with laboratory mice and deleted in t chromosomes showing meiotic drive.

    PubMed

    Braidotti, G; Barlow, D P

    1997-06-01

    Tcte2 (t complex testes expressed 2) is a male meiosis-specific gene that maps to band 3.3 of mouse chromosome 17. Two distinct male fertility defects, hybrid sterility and transmission ratio distortion, have previously been mapped to this region. Hybrid sterility arises in crosses between different mouse species and the F1 generation males have defects in the first meiotic division and are sterile. Transmission ratio distortion is shown by males heterozygous for the t haplotype form of chromosome 17 and is a type of meiotic drive in which male gametes function unequally at fertilization. The Tcte2 gene expresses a coding mRNA and a number of putative non-ORF transcripts in meiosis I. A deletion of the 5' part of the locus abolishes Tcte2 expression on the t haplotype form of chromosome 17. Additionally, the series of putative non-ORF RNAs at the Tcte2 locus are differentially spliced in species that show hybrid sterility when crossed to laboratory mice. The identification of polymorphisms in t haplotypes and in different mouse species allows alleles of Tcte2 to be proposed as candidates for loci which contribute to both meiotic drive and hybrid sterility phenotypes. While theoretical considerations have previously been used to propose that speciation and meiotic drive involve alleles of the same genes, Tcte2 is the first cloned candidate gene to support this link at a molecular level.

  20. Expressed sequence tags from the laboratory-grown miniature tomato (Lycopersicon esculentum) cultivar Micro-Tom and mining for single nucleotide polymorphisms and insertions/deletions in tomato cultivars.

    PubMed

    Yamamoto, Naoki; Tsugane, Taneaki; Watanabe, Manabu; Yano, Kentaro; Maeda, Fumi; Kuwata, Chikara; Torki, Moez; Ban, Yusuke; Nishimura, Shigeo; Shibata, Daisuke

    2005-08-15

    Laboratory-grown miniature tomato (Lycopersicon esculentum) cultivar Micro-Tom has attracted attention as a host for functional genomics research. In this study, we generated 35,824 expressed sequence tags (ESTs) from leaves and fruits of Micro-Tom. The ESTs comprised 10,287 unigenes (5007 contigs and 5280 singletons), including 1858 novel tomato unigenes. Of the 18 unigenes that shared strong homology with tobacco chloroplast genome sequences, one unigene was likely derived from polyadenylated transcripts of the atpH gene. Interestingly, ESTs for vacuolar invertase, pectate lyase and alcohol acyl transferase were underrepresented in the Micro-Tom data set. From all of the ESTs, we mined 2039 candidate single nucleotide polymorphisms (SNPs) and 121 candidate insertions and deletions (indels) based on homology with four tomato inbred lines, E6203, R11-13, Rio Grande PtoR and R11-12, and a wild relative, L. pennellii TA56, for which sequence data was publicly available with more than 5000 entries. Direct genome sequencing of several SNP or indel sites in Micro-Tom and L. esculentum E6203 suggested that more than 69% of the candidate sites were truly polymorphic, making them useful for the preparation of DNA markers.

  1. Version Description and Installation Guide Kernel Version 3.0

    DTIC Science & Technology

    1989-12-01

    approved for publication. FOR THE COMMANDER Karl H. Shingler SEI Joint Program Office This work is sponsored by the U.S. Department of Defense. Copyright...8217version’ * $ append/new-version tcl .lis,tc2. lise ,t3 .lis,tc4.lis - [dark -cm. dcc. vdiq]contents -of -’version’ $ delete tcl.lis;,tc2.lis;,tc3.lis...INOIVIOUAL 22b. TELEPHONE NUMBER 22c. OFFICE SYMBOL KARL H. SHINGLER (include A’a Code) 1, 412 268-7630 SEI JPO 00 FORM 1473.83 APR EITION OF JAN 73 IS OBSOLETE. I i SECURITY CLASSIFICATION OF THIS PAGE

  2. Bacterial genome reduction using the progressive clustering of deletions via yeast sexual cycling.

    PubMed

    Suzuki, Yo; Assad-Garcia, Nacyra; Kostylev, Maxim; Noskov, Vladimir N; Wise, Kim S; Karas, Bogumil J; Stam, Jason; Montague, Michael G; Hanly, Timothy J; Enriquez, Nico J; Ramon, Adi; Goldgof, Gregory M; Richter, R Alexander; Vashee, Sanjay; Chuang, Ray-Yuan; Winzeler, Elizabeth A; Hutchison, Clyde A; Gibson, Daniel G; Smith, Hamilton O; Glass, John I; Venter, J Craig

    2015-03-01

    The availability of genetically tractable organisms with simple genomes is critical for the rapid, systems-level understanding of basic biological processes. Mycoplasma bacteria, with the smallest known genomes among free-living cellular organisms, are ideal models for this purpose, but the natural versions of these cells have genome complexities still too great to offer a comprehensive view of a fundamental life form. Here we describe an efficient method for reducing genomes from these organisms by identifying individually deletable regions using transposon mutagenesis and progressively clustering deleted genomic segments using meiotic recombination between the bacterial genomes harbored in yeast. Mycoplasmal genomes subjected to this process and transplanted into recipient cells yielded two mycoplasma strains. The first simultaneously lacked eight singly deletable regions of the genome, representing a total of 91 genes and ∼ 10% of the original genome. The second strain lacked seven of the eight regions, representing 84 genes. Growth assay data revealed an absence of genetic interactions among the 91 genes under tested conditions. Despite predicted effects of the deletions on sugar metabolism and the proteome, growth rates were unaffected by the gene deletions in the seven-deletion strain. These results support the feasibility of using single-gene disruption data to design and construct viable genomes lacking multiple genes, paving the way toward genome minimization. The progressive clustering method is expected to be effective for the reorganization of any mega-sized DNA molecules cloned in yeast, facilitating the construction of designer genomes in microbes as well as genomic fragments for genetic engineering of higher eukaryotes. © 2015 Suzuki et al.; Published by Cold Spring Harbor Laboratory Press.

  3. Schizophrenia and chromosomal deletions

    SciTech Connect

    Lindsay, E.A.; Baldini, A.; Morris, M. A.

    1995-06-01

    Recent genetic linkage analysis studies have suggested the presence of a schizophrenia locus on the chromosomal region 22q11-q13. Schizophrenia has also been frequently observed in patients affected with velo-cardio-facial syndrome (VCFS), a disorder frequently associated with deletions within 22q11.1. It has been hypothesized that psychosis in VCFS may be due to deletion of the catechol-o-methyl transferase gene. Prompted by these observations, we screened for 22q11 deletions in a population of 100 schizophrenics selected from the Maryland Epidemiological Sample. Our results show that there are schizophrenic patients carrying a deletion of 22q11.1 and a mild VCFS phenotype that might remain unrecognized. These findings should encourage a search for a schizophrenia-susceptibility gene within the deleted region and alert those in clinical practice to the possible presence of a mild VCFS phenotype associated with schizophrenia. 9 refs.

  4. Quantum deletion: Beyond the no-deletion principle

    SciTech Connect

    Adhikari, Satyabrata

    2005-11-15

    Suppose we are given two identical copies of an unknown quantum state and we wish to delete one copy from among the given two copies. The quantum no-deletion principle restricts us from perfectly deleting a copy but it does not prohibit us from deleting a copy approximately. Here we construct two types of a 'universal quantum deletion machine' which approximately deletes a copy such that the fidelity of deletion does not depend on the input state. The two types of universal quantum deletion machines are (1) a conventional deletion machine described by one unitary operator and (2) a modified deletion machine described by two unitary operators. Here it is shown that the modified deletion machine deletes a qubit with fidelity 3/4, which is the maximum limit for deleting an unknown quantum state. In addition to this we also show that the modified deletion machine retains the qubit in the first mode with average fidelity 0.77 (approx.) which is slightly greater than the fidelity of measurement for two given identical states, showing how precisely one can determine its state [S. Massar and S. Popescu, Phys. Rev. Lett. 74, 1259 (1995)]. We also show that the deletion machine itself is input state independent, i.e., the information is not hidden in the deleting machine, and hence we can delete the information completely from the deletion machine.

  5. DEVELOPMENT OF PROBLEM SOLVING ABILITY AND LEARNING OF RELEVANT-IRRELEVANT INFORMATION THROUGH FILM AND TV VERSIONS OF A STRENGTH OF MATERIALS TESTING LABORATORY, FINAL REPORT.

    ERIC Educational Resources Information Center

    HARRIS, CHARLES O.; AND OTHERS

    SEVERAL PROBLEMS WHICH ARISE WITH THE USE OF FILM AND TELEVISION IN INSTRUCTION WERE INVESTIGATED. STUDY CONSIDERATIONS WERE FOCUSED ON DIFFERENTIATION BETWEEN RELEVANT AND IRREVELANT LEARNING BY COMPARING LABORATORY TEACHING TECHNIQUES FOR AN ENGINEERING COURSE WITH FILM PRESENTATIONS OF THE SAME MATERIAL. THERE WERE NO OVERALL SIGNIFICANT…

  6. Biomedical Science, Unit III: The Circulatory System in Health and Science. The Heart and Blood Vessels; Blood and Its Properties; The Urinary Tract. Laboratory Manual. Revised Version, 1976.

    ERIC Educational Resources Information Center

    Biomedical Interdisciplinary Curriculum Project, Berkeley, CA.

    This laboratory manual presents activities for a unit of science within the Biomedical Interdisciplinary Curriculum Project (BICP), a two-year interdisciplinary precollege curriculum aimed at preparing high school students for entry into college and vocational programs leading to a career in the health field. These twenty-five laboratory…

  7. Ada Compiler Validation Summary Report: Tartan Laboratories Incorporated, Tartan Ada ULTRIX. Version INT-3 VAX Station (Host & Target), 891207I1.10261

    DTIC Science & Technology

    1989-12-07

    be made only in the owne Is corporate name. Tartan Laboratories Incorporated Ed Lieblein, Sr. VP, Development Owner’s Declaration I, the undersigned...must be Yiven by a static expresion . 2. The specified size is taken as a mandate to store objects Of the type in the given size wherever feasible. No

  8. Biomedical Science, Unit III: The Circulatory System in Health and Science. The Heart and Blood Vessels; Blood and Its Properties; The Urinary Tract. Laboratory Manual. Revised Version, 1976.

    ERIC Educational Resources Information Center

    Biomedical Interdisciplinary Curriculum Project, Berkeley, CA.

    This laboratory manual presents activities for a unit of science within the Biomedical Interdisciplinary Curriculum Project (BICP), a two-year interdisciplinary precollege curriculum aimed at preparing high school students for entry into college and vocational programs leading to a career in the health field. These twenty-five laboratory…

  9. Original Version

    Cancer.gov

    The EPEC-O (Education in Palliative and End-of-Life Care for Oncology) Self-Study Original Version is a free comprehensive multimedia curricula for health professionals caring for persons with cancer and their families. The curricula is available as an online Self-Study Section and as a CD-ROM you can order.

  10. Sandia National Laboratories Advanced Simulation and Computing (ASC) software quality plan part 2 mappings for the ASC software quality engineering practices, version 2.0.

    SciTech Connect

    Heaphy, Robert; Sturtevant, Judith E.; Hodges, Ann Louise; Boucheron, Edward A.; Drake, Richard Roy; Minana, Molly A.; Hackney, Patricia; Forsythe, Christi A.; Schofield, Joseph Richard, Jr.; Pavlakos, Constantine James; Williamson, Charles Michael; Edwards, Harold Carter

    2006-09-01

    The purpose of the Sandia National Laboratories Advanced Simulation and Computing (ASC) Software Quality Plan is to clearly identify the practices that are the basis for continually improving the quality of ASC software products. The plan defines the ASC program software quality practices and provides mappings of these practices to Sandia Corporate Requirements CPR001.3.2 and CPR001.3.6 and to a Department of Energy document, ''ASCI Software Quality Engineering: Goals, Principles, and Guidelines''. This document also identifies ASC management and software project teams' responsibilities in implementing the software quality practices and in assessing progress towards achieving their software quality goals.

  11. Sandia National Laboratories Advanced Simulation and Computing (ASC) Software Quality Plan. Part 2, Mappings for the ASC software quality engineering practices. Version 1.0.

    SciTech Connect

    Ellis, Molly A.; Heaphy, Robert; Sturtevant, Judith E.; Hodges, Ann Louise; Boucheron, Edward A.; Drake, Richard Roy; Forsythe, Christi A.; Schofield, Joseph Richard, Jr.; Pavlakos, Constantine James; Williamson, Charles Michael; Edwards, Harold Carter

    2005-01-01

    The purpose of the Sandia National Laboratories Advanced Simulation and Computing (ASC) Software Quality Plan is to clearly identify the practices that are the basis for continually improving the quality of ASC software products. The plan defines the ASC program software quality practices and provides mappings of these practices to Sandia Corporate Requirements CPR 1.3.2 and 1.3.6 and to a Department of Energy document, 'ASCI Software Quality Engineering: Goals, Principles, and Guidelines'. This document also identifies ASC management and software project teams responsibilities in implementing the software quality practices and in assessing progress towards achieving their software quality goals.

  12. Sandia National Laboratories Advanced Simulation and Computing (ASC) software quality plan. Part 1: ASC software quality engineering practices, Version 2.0.

    SciTech Connect

    Sturtevant, Judith E.; Heaphy, Robert; Hodges, Ann Louise; Boucheron, Edward A.; Drake, Richard Roy; Minana, Molly A.; Hackney, Patricia; Forsythe, Christi A.; Schofield, Joseph Richard, Jr.; Pavlakos, Constantine James; Williamson, Charles Michael; Edwards, Harold Carter

    2006-09-01

    The purpose of the Sandia National Laboratories Advanced Simulation and Computing (ASC) Software Quality Plan is to clearly identify the practices that are the basis for continually improving the quality of ASC software products. The plan defines the ASC program software quality practices and provides mappings of these practices to Sandia Corporate Requirements CPR 1.3.2 and 1.3.6 and to a Department of Energy document, ASCI Software Quality Engineering: Goals, Principles, and Guidelines. This document also identifies ASC management and software project teams responsibilities in implementing the software quality practices and in assessing progress towards achieving their software quality goals.

  13. Summary of ground water and surface water flow and contaminant transport computer codes used at the Idaho National Engineering Laboratory (INEL). Version 1.0

    SciTech Connect

    Bandy, P.J.; Hall, L.F.

    1993-03-01

    This report presents information on computer codes for numerical and analytical models that have been used at the Idaho National Engineering Laboratory (INEL) to model ground water and surface water flow and contaminant transport. Organizations conducting modeling at the INEL include: EG&G Idaho, Inc., US Geological Survey, and Westinghouse Idaho Nuclear Company. Information concerning computer codes included in this report are: agency responsible for the modeling effort, name of the computer code, proprietor of the code (copyright holder or original author), validation and verification studies, applications of the model at INEL, the prime user of the model, computer code description, computing environment requirements, and documentation and references for the computer code.

  14. A user's guide for the signal processing software for image and speech compression developed in the Communications and Signal Processing Laboratory (CSPL), version 1

    NASA Technical Reports Server (NTRS)

    Kumar, P.; Lin, F. Y.; Vaishampayan, V.; Farvardin, N.

    1986-01-01

    A complete documentation of the software developed in the Communication and Signal Processing Laboratory (CSPL) during the period of July 1985 to March 1986 is provided. Utility programs and subroutines that were developed for a user-friendly image and speech processing environment are described. Additional programs for data compression of image and speech type signals are included. Also, programs for the zero-memory and block transform quantization in the presence of channel noise are described. Finally, several routines for simulating the perfromance of image compression algorithms are included.

  15. User manual for EXCALIBUR: A FE-BI numerical laboratory for cavity-backed antennas in a circular cylinder, version 1.2

    NASA Technical Reports Server (NTRS)

    Kempel, Leo C.

    1994-01-01

    The Finite Element-Boundary Integral (FE-BI) technique was used to analyze the scattering and radiation properties of cavity-backed patch antennas recessed in a metallic groundplane. A program, CAVITY3D, was written and found to yield accurate results for large arrays without the usual high memory and computational demand associated with competing formulations. Recently, the FE-BI approach was extended to cavity-backed antennas recessed in an infinite, metallic circular cylinder. EXCALIBUR is a computer program written in the Radiation Laboratory of the University of Michigan which implements this formulation. This user manual gives a brief introduction to EXCALIBUR and some hints as to its proper use. As with all computational electromagnetics programs (especially finite element programs), skilled use and best performance are only obtained through experience. However, several important aspects of the program such as portability, geometry generation, interpretation of results, and custom modification are addressed.

  16. Sandia National Laboratories Advanced Simulation and Computing (ASC) : appraisal method for the implementation of the ASC software quality engineering practices: Version 1.0.

    SciTech Connect

    Turgeon, Jennifer; Minana, Molly A.

    2008-02-01

    This document provides a guide to the process of conducting software appraisals under the Sandia National Laboratories (SNL) ASC Program. The goal of this document is to describe a common methodology for planning, conducting, and reporting results of software appraisals thereby enabling: development of an objective baseline on implementation of the software quality engineering (SQE) practices identified in the ASC Software Quality Plan across the ASC Program; feedback from project teams on SQE opportunities for improvement; identification of strengths and opportunities for improvement for individual project teams; guidance to the ASC Program on the focus of future SQE activities Document contents include process descriptions, templates to promote consistent conduct of appraisals, and an explanation of the relationship of this procedure to the SNL ASC software program.

  17. Sandia National Laboratories Advanced Simulation and Computing (ASC) software quality plan. Part 1 : ASC software quality engineering practices version 1.0.

    SciTech Connect

    Minana, Molly A.; Sturtevant, Judith E.; Heaphy, Robert; Hodges, Ann Louise; Boucheron, Edward A.; Drake, Richard Roy; Forsythe, Christi A.; Schofield, Joseph Richard, Jr.; Pavlakos, Constantine James; Williamson, Charles Michael; Edwards, Harold Carter

    2005-01-01

    The purpose of the Sandia National Laboratories (SNL) Advanced Simulation and Computing (ASC) Software Quality Plan is to clearly identify the practices that are the basis for continually improving the quality of ASC software products. Quality is defined in DOE/AL Quality Criteria (QC-1) as conformance to customer requirements and expectations. This quality plan defines the ASC program software quality practices and provides mappings of these practices to the SNL Corporate Process Requirements (CPR 1.3.2 and CPR 1.3.6) and the Department of Energy (DOE) document, ASCI Software Quality Engineering: Goals, Principles, and Guidelines (GP&G). This quality plan identifies ASC management and software project teams' responsibilities for cost-effective software engineering quality practices. The SNL ASC Software Quality Plan establishes the signatories commitment to improving software products by applying cost-effective software engineering quality practices. This document explains the project teams opportunities for tailoring and implementing the practices; enumerates the practices that compose the development of SNL ASC's software products; and includes a sample assessment checklist that was developed based upon the practices in this document.

  18. Adding and Deleting Images

    EPA Pesticide Factsheets

    Images are added via the Drupal WebCMS Editor. Once an image is uploaded onto a page, it is available via the Library and your files. You can edit the metadata, delete the image permanently, and/or replace images on the Files tab.

  19. Deletion 22q13.3 syndrome.

    PubMed

    Phelan, Mary C

    2008-05-27

    The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (CGH) is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy). Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements. Individuals with

  20. PVWatts Version 5 Manual

    SciTech Connect

    Dobos, A. P.

    2014-09-01

    The NREL PVWatts calculator is a web application developed by the National Renewable Energy Laboratory (NREL) that estimates the electricity production of a grid-connected photovoltaic system based on a few simple inputs. PVWatts combines a number of sub-models to predict overall system performance, and makes includes several built-in parameters that are hidden from the user. This technical reference describes the sub-models, documents assumptions and hidden parameters, and explains the sequence of calculations that yield the final system performance estimate. This reference is applicable to the significantly revised version of PVWatts released by NREL in 2014.

  1. Deletion (2)(q37)

    SciTech Connect

    Stratton, R.F.; Tolworthy, J.A.; Young, R.S.

    1994-06-01

    We report on a 5-month-old girl with widely spaced nipples, redundant nuchal skin, coarctation of the aorta, anal atresia with distal fistula, postnatal growth retardation, hypotonia, and sparse scalp hair. Initial clinical assessment suggested the diagnosis of Ullrich-Turner syndrome. Chromosome analysis showed a 46,XX,del(2)(q37) karyotype in peripheral lymphocytes. We compare her findings to those of other reported patients with terminal deletions of 2q. 8 refs., 2 figs., 1 tab.

  2. NQS - NETWORK QUEUING SYSTEM, VERSION 2.0 (UNIX VERSION)

    NASA Technical Reports Server (NTRS)

    Walter, H.

    1994-01-01

    ; device queues hold and prioritize device requests; pipe queues transport both batch and device requests to other batch, device, or pipe queues at local or remote machines. Unique to batch queues are resource quota limits that restrict the amounts of different resources that a batch request can consume during execution. Unique to each device queue is a set of one or more devices, such as a line printer, to which requests can be sent for execution. Pipe queues have associated destinations to which they route and deliver requests. If the proper destination machine is down or unreachable, pipe queues are able to requeue the request and deliver it later when the destination is available. All NQS network conversations are performed using the Berkeley socket mechanism as ported into the respective vendor kernels. NQS is written in C language. The generic UNIX version (ARC-13179) has been successfully implemented on a variety of UNIX platforms, including Sun3 and Sun4 series computers, SGI IRIS computers running IRIX 3.3, DEC computers running ULTRIX 4.1, AMDAHL computers running UTS 1.3 and 2.1, platforms running BSD 4.3 UNIX. The IBM RS/6000 AIX version (COS-10042) is a vendor port. NQS 2.0 will also communicate with the Cray Research, Inc. and Convex, Inc. versions of NQS. The standard distribution medium for either machine version of NQS 2.0 is a 60Mb, QIC-24, .25 inch streaming magnetic tape cartridge in UNIX tar format. Upon request the generic UNIX version (ARC-13179) can be provided in UNIX tar format on alternate media. Please contact COSMIC to discuss the availability and cost of media to meet your specific needs. An electronic copy of the NQS 2.0 documentation is included on the program media. NQS 2.0 was released in 1991. The IBM RS/6000 port of NQS was developed in 1992. IRIX is a trademark of Silicon Graphics Inc. IRIS is a registered trademark of Silicon Graphics Inc. UNIX is a registered trademark of UNIX System Laboratories Inc. Sun3 and Sun4 are trademarks of

  3. NQS - NETWORK QUEUING SYSTEM, VERSION 2.0 (UNIX VERSION)

    NASA Technical Reports Server (NTRS)

    Walter, H.

    1994-01-01

    ; device queues hold and prioritize device requests; pipe queues transport both batch and device requests to other batch, device, or pipe queues at local or remote machines. Unique to batch queues are resource quota limits that restrict the amounts of different resources that a batch request can consume during execution. Unique to each device queue is a set of one or more devices, such as a line printer, to which requests can be sent for execution. Pipe queues have associated destinations to which they route and deliver requests. If the proper destination machine is down or unreachable, pipe queues are able to requeue the request and deliver it later when the destination is available. All NQS network conversations are performed using the Berkeley socket mechanism as ported into the respective vendor kernels. NQS is written in C language. The generic UNIX version (ARC-13179) has been successfully implemented on a variety of UNIX platforms, including Sun3 and Sun4 series computers, SGI IRIS computers running IRIX 3.3, DEC computers running ULTRIX 4.1, AMDAHL computers running UTS 1.3 and 2.1, platforms running BSD 4.3 UNIX. The IBM RS/6000 AIX version (COS-10042) is a vendor port. NQS 2.0 will also communicate with the Cray Research, Inc. and Convex, Inc. versions of NQS. The standard distribution medium for either machine version of NQS 2.0 is a 60Mb, QIC-24, .25 inch streaming magnetic tape cartridge in UNIX tar format. Upon request the generic UNIX version (ARC-13179) can be provided in UNIX tar format on alternate media. Please contact COSMIC to discuss the availability and cost of media to meet your specific needs. An electronic copy of the NQS 2.0 documentation is included on the program media. NQS 2.0 was released in 1991. The IBM RS/6000 port of NQS was developed in 1992. IRIX is a trademark of Silicon Graphics Inc. IRIS is a registered trademark of Silicon Graphics Inc. UNIX is a registered trademark of UNIX System Laboratories Inc. Sun3 and Sun4 are trademarks of

  4. MCNP™ Version 5

    NASA Astrophysics Data System (ADS)

    Forster, R. Arthur; Cox, Lawrence J.; Barrett, Richard F.; Booth, Thomas E.; Briesmeister, Judith F.; Brown, Forrest B.; Bull, Jeffrey S.; Geisler, Gregg C.; Goorley, John T.; Mosteller, Russell D.; Post, Susan E.; Prael, Richard E.; Selcow, Elizabeth C.; Sood, Avneet

    2004-01-01

    The Monte Carlo transport workhorse, MCNP [Los Alamos National Laboratory report LA-13709-M, 2000], is undergoing a massive renovation at Los Alamos National Laboratory (LANL) in support of the Eolus Project of the Advanced Simulation and Computing (ASCI) Program. MCNP Version 5 (V5) (expected to be released to RSICC in Fall 2002) will consist of a major restructuring from FORTRAN-77 (with extensions) to ANSI-standard FORTRAN-90 [American National Standard for Programming Language - Fortran-Extended, ANSI X3. 198-1992, 1992] with support for all of the features available in the present release (MCNP-4C2/4C3). To most users, the look-and-feel of MCNP will not change much except for the improvements (improved graphics, easier installation, better online documentation). For example, even with the major format change, full support for incremental patching will still be provided. In addition to the language and style updates, MCNP V5 will have various new user features. These include improved photon physics, neutral particle radiography, enhancements and additions to variance reduction methods, new source options, improved parallelism support (PVM, MPI, OpenMP), and new nuclear and atomic data libraries. MCNP is a trademark of the Regents of the University of California, Los Alamos National Laboratory.

  5. Discrimination of contour-deleted images in baboons (Papio papio) and chimpanzees (Pan troglodytes).

    PubMed

    Martin-Malivel, Julie

    2011-05-01

    Humans readily group component elements into a coherent perceptual whole and perceive the global form of visual patterns in priority over local features, which stands in contrast to at least some data from the animal literature, suggesting possible species differences in perceptual processes. In this study, chimpanzees and baboons were required to match intact and partially contour-deleted line-drawings in a computerized task in order to further explore the ability of nonhuman primates to group component elements into a coherent perceptual whole and to determine to what extent they use the global form or the local features. Experiment 1 showed that the baboons and chimpanzees matched intact continuous line-drawings (intact-intact) more easily than partially contour-deleted line-drawings (deleted-deleted). Both species could also match partially deleted line-drawings with their intact version (deleted-intact), but at a lower performance level. Experiment 2 further showed that subjects from the two species could match partially deleted coherent line-drawings (deleted-deleted) more easily than their scrambled incoherent versions (scrambled-scrambled). They could however match the coherent deleted forms with their scrambled version (deleted-scrambled). It is suggested that solutions of these tasks rely on the processing of both global and local cues, with no clear-cut species difference in that ability. Overall, the results show that contour completion of line-drawings was not easy. Implications on the processing of human-made two-dimensional representations such as line-drawings are discussed.

  6. GENII Version 2 Users’ Guide

    SciTech Connect

    Napier, Bruce A.

    2004-03-08

    The GENII Version 2 computer code was developed for the Environmental Protection Agency (EPA) at Pacific Northwest National Laboratory (PNNL) to incorporate the internal dosimetry models recommended by the International Commission on Radiological Protection (ICRP) and the radiological risk estimating procedures of Federal Guidance Report 13 into updated versions of existing environmental pathway analysis models. The resulting environmental dosimetry computer codes are compiled in the GENII Environmental Dosimetry System. The GENII system was developed to provide a state-of-the-art, technically peer-reviewed, documented set of programs for calculating radiation dose and risk from radionuclides released to the environment. The codes were designed with the flexibility to accommodate input parameters for a wide variety of generic sites. Operation of a new version of the codes, GENII Version 2, is described in this report. Two versions of the GENII Version 2 code system are available, a full-featured version and a version specifically designed for demonstrating compliance with the dose limits specified in 40 CFR 61.93(a), the National Emission Standards for Hazardous Air Pollutants (NESHAPS) for radionuclides. The only differences lie in the limitation of the capabilities of the user to change specific parameters in the NESHAPS version. This report describes the data entry, accomplished via interactive, menu-driven user interfaces. Default exposure and consumption parameters are provided for both the average (population) and maximum individual; however, these may be modified by the user. Source term information may be entered as radionuclide release quantities for transport scenarios, or as basic radionuclide concentrations in environmental media (air, water, soil). For input of basic or derived concentrations, decay of parent radionuclides and ingrowth of radioactive decay products prior to the start of the exposure scenario may be considered. A single code run can

  7. Functional Genomics Using the Saccharomyces cerevisiae Yeast Deletion Collections.

    PubMed

    Nislow, Corey; Wong, Lai Hong; Lee, Amy Huei-Yi; Giaever, Guri

    2016-09-01

    Constructed by a consortium of 16 laboratories, the Saccharomyces genome-wide deletion collections have, for the past decade, provided a powerful, rapid, and inexpensive approach for functional profiling of the yeast genome. Loss-of-function deletion mutants were systematically created using a polymerase chain reaction (PCR)-based gene deletion strategy to generate a start-to-stop codon replacement of each open reading frame by homologous recombination. Each strain carries two molecular barcodes that serve as unique strain identifiers, enabling their growth to be analyzed in parallel and the fitness contribution of each gene to be quantitatively assessed by hybridization to high-density oligonucleotide arrays or through the use of next-generation sequencing technologies. Functional profiling of the deletion collections, using either strain-by-strain or parallel assays, provides an unbiased approach to systematically survey the yeast genome. The Saccharomyces yeast deletion collections have proved immensely powerful in contributing to the understanding of gene function, including functional relationships between genes and genetic pathways in response to diverse genetic and environmental perturbations. © 2016 Cold Spring Harbor Laboratory Press.

  8. Molecular cytogenetic detection of chromosome 15 deletions in patients with Prader-Willi and Angelman syndromes

    SciTech Connect

    Chadwick, D.E.; Weksberg, R.; Shuman, C.

    1994-09-01

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct genetic disorders involving alterations of chromosome 15q11-q13. Approximately 75% of individuals with PWS and AS have deletions within 15q11-q13 by molecular analysis. We have evaluated fluorescence in situ hybridization (FISH) for the clinical laboratory detection of del(15)(q11q13) using the cosmid probes D15S11 and GABRB3 (ONCOR, Gaithersburg, NY). 4/4 PWS and 1/1 AS patients previously identified as having cytogenetic deletions were deleted for both probes. In a prospectively ascertained series of 54 patient samples referred to rule out either PWS or AS, 8 were deleted for D15S11 and GABRB3. In addition, an atypical deletion patient with PWS was also identified who was found to be deleted for GABRB3 but not D15S11. The SNRPN locus was also deleted in this patient. Only 4 of the 9 patient samples having molecular cytogenetic deletions were clearly deleted by high resolution banding (HRB) analysis. The microscopic and submicroscopic deletions have been confirmed by dinucleotide (CA) repeat analysis. Microsatellite polymorphism analysis was also used to demonstrate that five non-deletion patients in this series had biparental inheritance of chromosome 15, including region q11-q13. Deletions were not detected by either HRB, FISH or microsatellite polymorphism analysis in samples obtained from parents of the deletion patients. Methylation studies of chromosome 15q11-q13 are in progress for this series of PWS and AS families. FISH analysis of chromosome 15q11-q13 in patients with PWS and AS is a rapid, sensitive and reliable method for deletion detection.

  9. Classical Noonan syndrome is not associated with deletions of 22q11

    SciTech Connect

    Robin, N.H.; Sellinger, B.; McDonald-McGinn, D.

    1995-03-13

    Deletions of 22q11 cause DiGeorge sequence (DGS), velo-cardio-facial syndrome (VCFS), conotruncal anomaly face syndrome, and some isolated conotruncal heart anomalies. Demonstration of a 22q11 deletion in a patient with manifestations of DGS and Noonan syndrome (NS) has raised the question of whether NS is another of the chromosome 22 microdeletion syndromes. This prompted us to evaluate a cohort of patients with NS for evidence of 22q11 deletions. Five of 6 NS propositi studied in our laboratory with marker N25 (D22S75) did not have a 22q11 deletion. A 2-month-old infant with several findings suggestive of NS did have a 22q11 deletion, suggesting that a small number of 22q11 deletion propositi may present with a NS-like picture. However, most cases of NS must have another cause. 10 refs., 1 fig.

  10. Sophia Daemon Version 12

    SciTech Connect

    2012-08-09

    Sophia Daemon Version 12 contains the code that is exclusively used by the ‘sophiad’ application. It runs as a service on a Linux host and analyzes network traffic obtained from libpcap and produces a network fingerprint based on hosts and channels. Sophia Daemon Version 12 can, if desired by the user, produce alerts when its fingerprint changes. Sophia Daemon Version 12 can receive data from another Sophia Daemon or raw packet data. It can output data to another Sophia Daemon Version 12, OglNet Version 12 or MySQL. Sophia Daemon Version 12 runs in a passive real-time manner that allows it to be used on a SCADA network. Its network fingerprint is designed to be applicable to SCADA networks rather than general IT networks.

  11. The Yeast Deletion Collection: A Decade of Functional Genomics

    PubMed Central

    Giaever, Guri; Nislow, Corey

    2014-01-01

    The yeast deletion collections comprise >21,000 mutant strains that carry precise start-to-stop deletions of ∼6000 open reading frames. This collection includes heterozygous and homozygous diploids, and haploids of both MATa and MATα mating types. The yeast deletion collection, or yeast knockout (YKO) set, represents the first and only complete, systematically constructed deletion collection available for any organism. Conceived during the Saccharomyces cerevisiae sequencing project, work on the project began in 1998 and was completed in 2002. The YKO strains have been used in numerous laboratories in >1000 genome-wide screens. This landmark genome project has inspired development of numerous genome-wide technologies in organisms from yeast to man. Notable spinoff technologies include synthetic genetic array and HIPHOP chemogenomics. In this retrospective, we briefly describe the yeast deletion project and some of its most noteworthy biological contributions and the impact that these collections have had on the yeast research community and on genomics in general. PMID:24939991

  12. The yeast deletion collection: a decade of functional genomics.

    PubMed

    Giaever, Guri; Nislow, Corey

    2014-06-01

    The yeast deletion collections comprise >21,000 mutant strains that carry precise start-to-stop deletions of ∼6000 open reading frames. This collection includes heterozygous and homozygous diploids, and haploids of both MAT A: and MATα mating types. The yeast deletion collection, or yeast knockout (YKO) set, represents the first and only complete, systematically constructed deletion collection available for any organism. Conceived during the Saccharomyces cerevisiae sequencing project, work on the project began in 1998 and was completed in 2002. The YKO strains have been used in numerous laboratories in >1000 genome-wide screens. This landmark genome project has inspired development of numerous genome-wide technologies in organisms from yeast to man. Notable spinoff technologies include synthetic genetic array and HIPHOP chemogenomics. In this retrospective, we briefly describe the yeast deletion project and some of its most noteworthy biological contributions and the impact that these collections have had on the yeast research community and on genomics in general. Copyright © 2014 by the Genetics Society of America.

  13. Versioning Complex Data

    SciTech Connect

    Macduff, Matt C.; Lee, Benno; Beus, Sherman J.

    2014-06-29

    Using the history of ARM data files, we designed and demonstrated a data versioning paradigm that is feasible. Assigning versions to sets of files that are modified with some special assumptions and domain specific rules was effective in the case of ARM data, which has more than 5000 datastreams and 500TB of data.

  14. CARE 3, Version 4 enhancements

    NASA Technical Reports Server (NTRS)

    Bryant, L. A.; Stiffler, J. J.

    1985-01-01

    The enhancements and error corrections to CARE III Version 4 are listed. All changes to Version 4 with the exception of the internal redundancy model were implemented in Version 5. Version 4 is the first public release version for execution on the CDC Cyber 170 series computers. Version 5 is the second release version and it is written in ANSI standard FORTRAN 77 for execution on the DEC VAX 11/700 series computers and many others.

  15. Laboratory Techniques for the Blind

    ERIC Educational Resources Information Center

    Tombaugh, Dorothy

    1972-01-01

    Describes modifications of laboratory procedures for the BSCS Green Version biology, including dissection, microbiology, animal behavior, physiology, biochemistry, and genetics that make the methods suitable for direct experimentation by blind students. Discusses models as substitutes for microscopy. (AL)

  16. Laboratory Techniques for the Blind

    ERIC Educational Resources Information Center

    Tombaugh, Dorothy

    1972-01-01

    Describes modifications of laboratory procedures for the BSCS Green Version biology, including dissection, microbiology, animal behavior, physiology, biochemistry, and genetics that make the methods suitable for direct experimentation by blind students. Discusses models as substitutes for microscopy. (AL)

  17. APGEN Version 5.0

    NASA Technical Reports Server (NTRS)

    Maldague, Pierre; Page, Dennis; Chase, Adam

    2005-01-01

    Activity Plan Generator (APGEN), now at version 5.0, is a computer program that assists in generating an integrated plan of activities for a spacecraft mission that does not oversubscribe spacecraft and ground resources. APGEN generates an interactive display, through which the user can easily create or modify the plan. The display summarizes the plan by means of a time line, whereon each activity is represented by a bar stretched between its beginning and ending times. Activities can be added, deleted, and modified via simple mouse and keyboard actions. The use of resources can be viewed on resource graphs. Resource and activity constraints can be checked. Types of activities, resources, and constraints are defined by simple text files, which the user can modify. In one of two modes of operation, APGEN acts as a planning expert assistant, displaying the plan and identifying problems in the plan. The user is in charge of creating and modifying the plan. In the other mode, APGEN automatically creates a plan that does not oversubscribe resources. The user can then manually modify the plan. APGEN is designed to interact with other software that generates sequences of timed commands for implementing details of planned activities.

  18. A constitutional 5q23 deletion.

    PubMed Central

    Rivera, H; Simi, P; Rossi, S; Pardelli, L; Di Paolo, M C

    1990-01-01

    A 14 month old girl was found to have a deletion of the whole of band 5q23. By comparing 19 other cases monosomic for a part of the 5q13-q31 segment, the constitutional 5q interstitial deletions fall into two groups: adult patients with Gardner-like symptoms and mental retardation associated with deletion 5q21-q22, and patients (mostly children) with unspecific signs and symptoms and different deletions. Images PMID:2325108

  19. An improved Flp deleter mouse in C57Bl/6 based on Flpo recombinase.

    PubMed

    Kranz, Andrea; Fu, Jun; Duerschke, Kristin; Weidlich, Stefanie; Naumann, Ronald; Stewart, A Francis; Anastassiadis, Konstantinos

    2010-08-01

    Recently, a codon improved version of the Flpe site specific recombinase, termed Flpo, was reported as having greatly improved performance in mammalian cell applications. However, the degree of improvement could not be estimated because essentially no Flpe activity was observed. Here, we compare Flpe and Flpo accurately in a mammalian cell assay to estimate that Flpo is about five times more active than Flpe and similar to Cre and Dre. Consequently, we generated a Flpo deleter mouse line from the JM8 C57Bl/6 ES cells used in the EUCOMM and KOMP systematic knock-out programs. In breeding experiments, we show that the Flpo deleter delivers complete recombination using alleles that are incompletely recombined by a commonly used Flpe deleter. This indicates that the Flpo deleter is more efficient. (c) 2010 Wiley-Liss, Inc.

  20. Deletion 14q and pericentric inversion 14.

    PubMed Central

    Nielsen, J; Homma, A; Rasmussen, K; Ried, E; Sorensen, K; Saldana-Garcia, P

    1978-01-01

    A woman with deletion 14q as well as inversion 14 is presented, and physical signs are compared with those of patients with deletion long arm 13. No previous case of deletion long arm 14 has been published. Images PMID:671492

  1. Sophia Client Version 12

    SciTech Connect

    2012-08-09

    Sophia Client Version 12 offers command line access to the Sophia Daemon and the Sophia database files. It provides print, fingerprint, acknowledge, color coding and status access to these other resources.

  2. Underwire Version 12 (SOPHIA)

    SciTech Connect

    2012-08-09

    Underwire Version 12 is code that provides generic functionality that is common between several projects of these authors. This functionality provides a common API for such things as logging and signal handling that speed up development of new applications.

  3. Interstitial deletions are not the main mechanism leading to 18q deletions.

    PubMed Central

    Strathdee, G.; Harrison, W.; Riethman, H. C.; Goodart, S. A.; Overhauser, J.

    1994-01-01

    Most patients who present with the 18q- syndrome have an apparent terminal deletion of the long arm of chromosome 18. For precise phenotypic mapping of this syndrome, it is important to determine whether the deletions are terminal deletions or interstitial deletions. A human telomeric YAC clone has been identified that hybridizes specifically to the telomeric end of 18q. This clone was characterized and used to analyze seven patients with 18q deletions. By FISH and Southern blotting analysis, all patients were found to lack this chromosomal region on their deleted chromosome, demonstrating that the patients do not have cryptic interstitial deletions. Images Figure 2 Figure 1 Figure 3 PMID:8198131

  4. Earth Observations Division version of the Laboratory for Applications of Remote Sensing System (EOD-LARSYS) user guide for the IBM 370/148. Volume 2: User reference manual

    NASA Technical Reports Server (NTRS)

    Aucoin, P. J.; Stewart, J.; Mckay, M. F. (Principal Investigator)

    1980-01-01

    This document presents instructions for analysts who use the EOD-LARSYS as programmed on the Purdue University IBM 370/148 (recently replaced by the IBM 3031) computer. It presents sample applications, control cards, and error messages for all processors in the system and gives detailed descriptions of the mathematical procedures and information needed to execute the system and obtain the desired output. EOD-LARSYS is the JSC version of an integrated batch system for analysis of multispectral scanner imagery data. The data included is designed for use with the as built documentation (volume 3) and the program listings (volume 4). The system is operational from remote terminals at Johnson Space Center under the virtual machine/conversational monitor system environment.

  5. Insider Alert 1.0 Beta Version

    SciTech Connect

    Abbott, Robert

    2004-02-01

    Insider Alert 1.0 Beta Version supports interactive selection and graphical display of data generated by the Sandia Cognitive Framework, which simulates the examination of security data by experts of various specialties. Insider Alert also encompasses the configuration and data files input to the Cognitive Framework for this application. Insider Alert 1.0 Beta Version is a computer program for analyzing data indicative of possible espionage or improper handling of data by employees at Sandia National Laboratories (or other facilities with comparable policies and procedures for managing sensitive information) It prioritizes and displays information for review by security analysts.

  6. Version pressure feedback mechanisms for speculative versioning caches

    DOEpatents

    Eichenberger, Alexandre E.; Gara, Alan; O& #x27; Brien, Kathryn M.; Ohmacht, Martin; Zhuang, Xiaotong

    2013-03-12

    Mechanisms are provided for controlling version pressure on a speculative versioning cache. Raw version pressure data is collected based on one or more threads accessing cache lines of the speculative versioning cache. One or more statistical measures of version pressure are generated based on the collected raw version pressure data. A determination is made as to whether one or more modifications to an operation of a data processing system are to be performed based on the one or more statistical measures of version pressure, the one or more modifications affecting version pressure exerted on the speculative versioning cache. An operation of the data processing system is modified based on the one or more determined modifications, in response to a determination that one or more modifications to the operation of the data processing system are to be performed, to affect the version pressure exerted on the speculative versioning cache.

  7. Enigma Version 12

    NASA Technical Reports Server (NTRS)

    Shores, David; Goza, Sharon P.; McKeegan, Cheyenne; Easley, Rick; Way, Janet; Everett, Shonn; Guerra, Mark; Kraesig, Ray; Leu, William

    2013-01-01

    Enigma Version 12 software combines model building, animation, and engineering visualization into one concise software package. Enigma employs a versatile user interface to allow average users access to even the most complex pieces of the application. Using Enigma eliminates the need to buy and learn several software packages to create an engineering visualization. Models can be created and/or modified within Enigma down to the polygon level. Textures and materials can be applied for additional realism. Within Enigma, these models can be combined to create systems of models that have a hierarchical relationship to one another, such as a robotic arm. Then these systems can be animated within the program or controlled by an external application programming interface (API). In addition, Enigma provides the ability to use plug-ins. Plugins allow the user to create custom code for a specific application and access the Enigma model and system data, but still use the Enigma drawing functionality. CAD files can be imported into Enigma and combined to create systems of computer graphics models that can be manipulated with constraints. An API is available so that an engineer can write a simulation and drive the computer graphics models with no knowledge of computer graphics. An animation editor allows an engineer to set up sequences of animations generated by simulations or by conceptual trajectories in order to record these to highquality media for presentation. Enigma Version 12 Lyndon B. Johnson Space Center, Houston, Texas 28 NASA Tech Briefs, September 2013 Planetary Protection Bioburden Analysis Program NASA's Jet Propulsion Laboratory, Pasadena, California This program is a Microsoft Access program that performed statistical analysis of the colony counts from assays performed on the Mars Science Laboratory (MSL) spacecraft to determine the bioburden density, 3-sigma biodensity, and the total bioburdens required for the MSL prelaunch reports. It also contains numerous

  8. Laboratory for Atmospheres: 2004 Technical Highlights

    NASA Technical Reports Server (NTRS)

    2005-01-01

    The report describes our role in NASA's mission, gives a broad description of our research, and summarizes our scientists' major accomplishments in 2004. The report also contains useful information on human resources, scientific interactions, outreach activities, and the transformation our laboratory has undergone. This report is published in two versions: 1) an abbreviated print version, and 2) an unabridged electronic version at our Laboratory for Atmospheres Web site: http://atmospheres.gsfc.nasa.gov/.

  9. MAFIA Version 4

    SciTech Connect

    Weiland, T.; Bartsch, M.; Becker, U.; Bihn, M.; Blell, U.; Clemens, M.; Dehler, M.; Dohlus, M. |; Drevlak, M.; Du, X.; Ehmann, R.; Eufinger, A.; Gutschling, S.; Hahne, P.; Klatt, R.; Krietenstein, B.; Langstrof, A.; Pinder, P.; Podebrad, O.; Proepper, T.; van Rienen, U.; Schmidt, D.; Schuhmann, R.; Schulz, A.; Schupp, S.; Schuett, P.; Thoma, P.; Timm, M.; Wagner, B.; Weber, R.; Wipf, S.; Wolter, H.; Min, Z.

    1997-02-01

    MAFIA Version 4.0 is an almost completely new version of the general purpose electromagnetic simulator known since 13 years. The major improvements concern the new graphical user interface based on state of the art technology as well as a series of new solvers for new physics problems. MAFIA now covers heat distribution, electro-quasistatics, S-parameters in frequency domain, particle beam tracking in linear accelerators, acoustics and even elastodynamics. The solvers that were available in earlier versions have also been improved and/or extended, as for example the complex eigenmode solver, the 2D--3D coupled PIC solvers. Time domain solvers have new waveguide boundary conditions with an extremely low reflection even near cutoff frequency, concentrated elements are available as well as a variety of signal processing options. Probably the most valuable addition are recursive sub-grid capabilities that enable modeling of very small details in large structures. {copyright} {ital 1997 American Institute of Physics.}

  10. MAFIA Version 4

    SciTech Connect

    Weiland, T.; Bartsch, M.; Becker, U.; Bihn, M.; Blell, U.; Clemens, M.; Dehler, M.; Dohlus, M.; Drevlak, M.; Du, X.; Ehmann, R.; Eufinger, A.; Gutschling, S.; Hahne, P.; Klatt, R.; Krietenstein, B.; Langstrof, A.; Pinder, P.; Podebrad, O.; Proepper, T.

    1997-02-01

    MAFIA Version 4.0 is an almost completely new version of the general purpose electromagnetic simulator known since 13 years. The major improvements concern the new graphical user interface based on state of the art technology as well as a series of new solvers for new physics problems. MAFIA now covers heat distribution, electro-quasistatics, S-parameters in frequency domain, particle beam tracking in linear accelerators, acoustics and even elastodynamics. The solvers that were available in earlier versions have also been improved and/or extended, as for example the complex eigenmode solver, the 2D-3D coupled PIC solvers. Time domain solvers have new waveguide boundary conditions with an extremely low reflection even near cutoff frequency, concentrated elements are available as well as a variety of signal processing options. Probably the most valuable addition are recursive sub-grid capabilities that enable modeling of very small details in large structures.

  11. Storage and disposition of weapons usable fissile materials (FMD) PEIS: Blending of U-233 to {lt}12% or {lt}5% enrichment at the Idaho National Engineering Laboratory. Data report, Draft: Version 1

    SciTech Connect

    Shaber, E.L.

    1995-08-01

    Uranium-233 (U-233), a uranium isotope, is a fissionable material capable of fueling nuclear reactors or being utilized in the manufacturing of nuclear weapons. As such, it is controlled as a special nuclear material. The Idaho National Engineering Laboratory (INEL) and Oak Ridge National Laboratory (ORNL) currently store the Department of Energy`s (DOE`s) supply of unirradiated U-233 fuel materials. Irradiated U-233 is covered by the national spent nuclear fuel (SNF) program and is not in the scope of this report. The U-233 stored at ORNL is relatively pure uranium oxide in the form of powder or monolithic solids. This material is currently stored in stainless steel canisters of variable lengths measuring about 3 inches in diameter. The ORNL material enrichment varies with some material containing considerable amounts of U-235. The INEL material is fuel from the Light Water Breeder Reactor (LWBR) Program and consists of enriched uranium and thorium oxides in zircaloy cladding. The DOE inventory of U-233 contains trace quantities of U-232, and daughter products from the decay of U-232 and U-233, resulting in increased radioactivity over time. These increased levels of radioactivity generally result in the need for special handling considerations.

  12. Algorithms for software development version control and change detection

    NASA Technical Reports Server (NTRS)

    Tausworthe, R. C.

    1982-01-01

    Simple computer algorithms for processing source program and text data files in order to extract change detection, version control, version history, and current status information are described. These algorithms presuppose that it is possible to attach to each record of the source files a 6-character code, placed within delimiters that will cause the compiler, or other using program, to ignore this code field. The code contains a 2-character code for a character-by-character position-sensitive checksum of the record, another for the record number in the file, and a third for the data on which the encoding took place. Once the source file has been thus encoded, it is possible to detect the following transactions on the file since the most recent version coding; (1) addition of new records (having no version code), (2) modification of existing records, (3) deletion of a number of records, (4) movement and/or duplication of existing records, and (5) modification and duplication of records. In addition, it is possible to extract a version history of the number of records created or modified by date. A special file listing program is described which prints the file records without showing the version codes, but places a "change bar" at the right margin whenever a change is detected. The program also provides a list of changed pages and a version history.

  13. Versioning of printed products

    NASA Astrophysics Data System (ADS)

    Tuijn, Chris

    2004-12-01

    During the definition of a printed product in an MIS system, a lot of attention is paid to the production process. The MIS systems typically gather all process-related parameters at such a level of detail that they can determine what the exact cost will be to make a specific product. This information can then be used to make a quote for the customer. Considerably less attention is paid to the content of the products since this does not have an immediate impact on the production costs (assuming that the number of inks or plates is known in advance). The content management is typically carried out either by the prepress systems themselves or by dedicated workflow servers uniting all people that contribute to the manufacturing of a printed product. Special care must be taken when considering versioned products. With versioned products we here mean distinct products that have a number of pages or page layers in common. Typical examples are comic books that have to be printed in different languages. In this case, the color plates can be shared over the different versions and the black plate will be different. Other examples are nation-wide magazines or newspapers that have an area with regional pages or advertising leaflets in different languages or currencies. When considering versioned products, the content will become an important cost factor. First of all, the content management (and associated proofing and approval cycles) becomes much more complex and, therefore, the risk that mistakes will be made increases considerably. Secondly, the real production costs are very much content-dependent because the content will determine whether plates can be shared across different versions or not and how many press runs will be needed. In this paper, we will present a way to manage different versions of a printed product. First, we will introduce a data model for version management. Next, we will show how the content of the different versions can be supplied by the customer

  14. Versioning of printed products

    NASA Astrophysics Data System (ADS)

    Tuijn, Chris

    2005-01-01

    During the definition of a printed product in an MIS system, a lot of attention is paid to the production process. The MIS systems typically gather all process-related parameters at such a level of detail that they can determine what the exact cost will be to make a specific product. This information can then be used to make a quote for the customer. Considerably less attention is paid to the content of the products since this does not have an immediate impact on the production costs (assuming that the number of inks or plates is known in advance). The content management is typically carried out either by the prepress systems themselves or by dedicated workflow servers uniting all people that contribute to the manufacturing of a printed product. Special care must be taken when considering versioned products. With versioned products we here mean distinct products that have a number of pages or page layers in common. Typical examples are comic books that have to be printed in different languages. In this case, the color plates can be shared over the different versions and the black plate will be different. Other examples are nation-wide magazines or newspapers that have an area with regional pages or advertising leaflets in different languages or currencies. When considering versioned products, the content will become an important cost factor. First of all, the content management (and associated proofing and approval cycles) becomes much more complex and, therefore, the risk that mistakes will be made increases considerably. Secondly, the real production costs are very much content-dependent because the content will determine whether plates can be shared across different versions or not and how many press runs will be needed. In this paper, we will present a way to manage different versions of a printed product. First, we will introduce a data model for version management. Next, we will show how the content of the different versions can be supplied by the customer

  15. Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples.

    PubMed

    Maisenbacher, Melissa K; Merrion, Katrina; Pettersen, Barbara; Young, Michael; Paik, Kiyoung; Iyengar, Sushma; Kareht, Stephanie; Sigurjonsson, Styrmir; Demko, Zachary P; Martin, Kimberly A

    2017-01-01

    The 22q11.2 deletion syndrome is the most common microdeletion syndrome in livebirths, but data regarding its incidence in other populations is limited and also include ascertainment bias. This study was designed to determine the incidence of the 22q11.2 deletion in miscarriage samples sent for clinical molecular cytogenetic testing. Twenty-six thousand one hundred one fresh product of conception (POC) samples were sent to a CLIA- certified, CAP-accredited laboratory from April 2010--May 2016 for molecular cytogenetic miscarriage testing using a single-nucleotide polymorphism (SNP)-based microarray platform. A retrospective review determined the incidence of the 22q11.2 deletion in this sample set. Fetal results were obtained in 22,451 (86%) cases, of which, 15 (0.07%) had a microdeletion in the 22q11.2 region (incidence, 1/1497). Of those, 12 (80%) cases were found in samples that were normal at the resolution of traditional karyotyping (i.e., had no chromosome abnormalities above 10 Mb in size) and three (20%) cases had additional findings (Trisomy 15, Trisomy 16, XXY). Ten (67%) cases with a 22q11.2 deletion had the common ~3 Mb deletion; the remaining 5 cases had deletions ranging in size from 0.65 to 1.5 Mb. A majority (12/15) of cases had a deletion on the maternally inherited chromosome. No significant relationship between maternal age and presence of a fetal 22q11.2 deletion was observed. The observed incidence of 1/1497 for the 22q11.2 deletion in miscarriage samples is higher than the reported general population prevalence (1/4000-1/6000). Further research is needed to determine whether the 22q11.2 deletion is a causal factor for miscarriage.

  16. Single-laboratory evaluation and modification of US EPA (Environmental Protection Agency) Methods 7470 and 7471 for the determination of mercury in aqueous and solid hazardous wastes (journal version)

    SciTech Connect

    Churchwell, M.E.; Livingston, R.L.; Sgontz, D.L.; Messman, J.D.; Beckert, W.F.

    1988-01-01

    The current U.S. Environmental Protection Agency (U.S. EPA) protocols for mercury determinations in aqueous and solid-waste samples (SW-846 Methods 7470 and 7471) using recirculating cold-vapor atomic absorption spectrometry (CV-AAS) were evaluated. The U.S. EPA protocols have been modified in a single-laboratory study to facilitate additional QC measures, to enhance detectability for low-level mercury concentrations, and to eliminate nonspecific vapor-absorption interferences. Volumetric manipulations for additional QC measures, if required, are facilitated by performing the sample digestions in Erlenmeyer flasks rather than in the current Biochemical Oxygen Demand (BOD) reduction-aeration bottles. Instrument detectability is improved 10-fold by using a gas sparging bottle as a dedicated reduction-aeration vessel and a silver wool-amalgamation CV-AAS system operated in an open configuration. The on-line amalgamation thermal-desorption process of the modified CV-AAS system eliminates interfering water and organic matrix vapors prior to the mercury absorption measurement. Good accuracy and precision have been obtained with the amalgamation CV-AAS system for the analyses of four reference sediment materials.

  17. Accelerated Leach Testing of GLASS: ALTGLASS Version 3.0

    SciTech Connect

    Trivelpiece, Cory L.; Jantzen, Carol M.; Crawford, Charles L.

    2016-12-31

    The Accelerated Leach Testing of GLASS (ALTGLASS) database is a collection of data from short- and long-term product consistency tests (PCT, ASTM C1285 A and B) on high level waste (HLW) as well as low activity waste (LAW) glasses. The database provides both U.S. and international researchers with an archive of experimental data for the purpose of studying, modeling, or validating existing models of nuclear waste glass corrosion. The ALTGLASS database is maintained and updated by researchers at the Savannah River National Laboratory (SRNL). This newest version, ALTGLASS Version 3.0, has been updated with an additional 503 rows of data representing PCT results from corrosion experiments conducted in the United States by the Savannah River National Laboratory, Pacific Northwest National Laboratory, Argonne National Laboratory, and the Vitreous State Laboratory (SRNL, PNNL, ANL, VSL, respectively) as well as the National Nuclear Laboratory (NNL) in the United Kingdom.

  18. Documentation for the machine-readable version of the Cape Photographic Durchmusterung (CPD)

    NASA Technical Reports Server (NTRS)

    Warren, W. H., Jr.

    1984-01-01

    The machine-readable version of the catalog, as it is currently being distributed from the Astronomical Data Center, is described. The complete catalog is contained in the magnetic tape file, and corrections published in all errata have been made to the data. The machine version contains 454877 records, but only 454875 stars (two stars were later deleted, but their logical records are retained in the file so that the zone counts are not diiferent from the published catalog).

  19. Documentation for the machine-readable version of the Cordoba Durchmusterung (CD)

    NASA Technical Reports Server (NTRS)

    Warren, W. H., Jr.

    1984-01-01

    The machine-readable version of the catalog, as it is currently being distributed from the Astronomical Data Center, is presented. The complete catalog is contained in the magnetic tape file, and corrections published in all corrigenda were made to the data. The machine version contains 613959 records, but only 613953 stars (six stars were later deleted, but their logical records are retained in the file so that the zone counts are not different from the published catalog).

  20. FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes

    SciTech Connect

    Teshima, I.; Chadwick, D.; Chitayat, D.

    1996-03-29

    We have evaluated fluorescence in situ hybridization (FISH) analysis for the clinical laboratory detection of the 15q11-q13 deletion seen in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) using probes for loci D15S11, SNRPN, D15S10, and GABRB3. In a series of 118 samples from patients referred for PWS or AS, 29 had deletions by FISH analysis. These included two brothers with a paternally transmitted deletion detectable with the probe for SNRPN only. G-banding analysis was less sensitive for deletion detection but useful in demonstrating other cytogenetic alterations in four cases. Methylation and CA-repeat analyses of 15q11-q13 were used to validate the FISH results. Clinical findings of patients with deletions were variable, ranging from newborns with hypotonia as the only presenting feature to children who were classically affected. We conclude that FISH analysis is a rapid and reliable method for detection of deletions within 15q11-q13 and whenever a deletion is found, FISH analysis of parental chromosomes should also be considered. 41 refs., 4 figs., 2 tabs.

  1. AERONET Version 3 processing

    NASA Astrophysics Data System (ADS)

    Holben, B. N.; Slutsker, I.; Giles, D. M.; Eck, T. F.; Smirnov, A.; Sinyuk, A.; Schafer, J.; Rodriguez, J.

    2014-12-01

    The Aerosol Robotic Network (AERONET) database has evolved in measurement accuracy, data quality products, availability to the scientific community over the course of 21 years with the support of NASA, PHOTONS and all federated partners. This evolution is periodically manifested as a new data version release by carefully reprocessing the entire database with the most current algorithms that fundamentally change the database and ultimately the data products used by the community. The newest processing, Version 3, will be released in 2015 after the entire database is reprocessed and real-time data processing becomes operational. All V 3 algorithms have been developed, individually vetted and represent four main categories: aerosol optical depth (AOD) processing, inversion processing, database management and new products. The primary trigger for release of V 3 lies with cloud screening of the direct sun observations and computation of AOD that will fundamentally change all data available for analysis and all subsequent retrieval products. This presentation will illustrate the innovative approach used for cloud screening and assesses the elements of V3 AOD relative to the current version. We will also present the advances in the inversion product processing with emphasis on the random and systematic uncertainty estimates. This processing will be applied to the new hybrid measurement scenario intended to provide inversion retrievals for all solar zenith angles. We will introduce automatic quality assurance criteria that will allow near real time quality assured aerosol products necessary for real time satellite and model validation and assimilation. Last we will introduce the new management structure that will improve access to the data database. The current version 2 will be supported for at least two years after the initial release of V3 to maintain continuity for on going investigations.

  2. Variable Deletion Strategies in Canonical Correlation Analysis.

    ERIC Educational Resources Information Center

    Tanguma, Jesus

    This paper presents three variable deletion strategies in canonical correlation analysis. All three strategies are illustrated by examples. The first strategy uses the canonical communality (h2) coefficients of the three functions to decide which variable to delete. The second function also uses the canonical communality coefficients, but only…

  3. Passenger Deletions Generate Therapeutic Vulnerabilities in Cancer

    PubMed Central

    Muller, Florian L.; Colla, Simona; Aquilanti, Elisa; Manzo, Veronica; Genovese, Giannicola; Lee, Jaclyn; Eisenson, Dan; Narurkar, Rujuta; Deng, Pingna; Nezi, Luigi; Lee, Michelle; Hu, Baoli; Hu, Jian; Sahin, Ergun; Ong, Derrick; Fletcher-Sananikone, Eliot; Ho, Dennis; Kwong, Lawrence; Brennan, Cameron; Wang, Y. Alan; Chin, Lynda; DePinho, Ronald A.

    2013-01-01

    Inactivation of tumor suppressor genes via homozygous deletion is a prototypic event in the cancer genome, yet such deletions often encompass neighboring genes. We hypothesized that homozygous deletions in such passenger genes can expose cancer-specific therapeutic vulnerabilities in the case where the collaterally deleted gene is a member of a functionally redundant family of genes exercising an essential function. The glycolytic gene Enolase 1 (ENO1) in the 1p36 locus is deleted in Glioblastoma (GBM), which is tolerated by expression of ENO2. We demonstrate that shRNA-mediated extinction of ENO2 selectively inhibits growth, survival, and tumorigenic potential of ENO1-deleted GBM cells and that the enolase inhibitor phosphonoacetohydroxamate (PhAH) is selectively toxic to ENO1-deleted GBM cells relative to ENO1-intact GBM cells or normal astrocytes. The principle of collateral vulnerability should be applicable to other passenger deleted genes encoding functionally-redundant essential activities and provide an effective treatment strategy for cancers harboring such genomic events. PMID:22895339

  4. An efficient gene deletion procedure for the mushroom-forming basidiomycete Schizophyllum commune.

    PubMed

    Ohm, Robin A; de Jong, Jan F; Berends, Elsa; Wang, Fengfeng; Wösten, Han A B; Lugones, Luis G

    2010-10-01

    Gene deletion in Schizophyllum commune is hampered by a low incidence of homologous integration. As a consequence, extensive screening is required to identify a transformant with the desired genotype. To alleviate this and to facilitate the assembly of deletion plasmids, vector pDelcas was constructed. This construct has a set of restriction sites, which allows for directional cloning of the flanking sequences at both sides of a nourseothricin resistance cassette. Moreover, it contains a phleomycin resistance cassette elsewhere in the plasmid, which is used to screen for transformants with an ectopic integration of the pDelcas derivative. The use of pDelcas derivatives in combination with an improved PCR screening protocol permitted the efficient identification of S. commune deletion strains. This procedure may also function in other basidiomycetes. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11274-010-0356-0) contains supplementary material, which is available to authorized users.

  5. A Codon Deletion at the Beginning of Green Fluorescent Protein Genes Enhances Protein Expression.

    PubMed

    Rodríguez-Mejía, José-Luis; Roldán-Salgado, Abigail; Osuna, Joel; Merino, Enrique; Gaytán, Paul

    2017-01-01

    Recombinant protein expression is one of the key issues in protein engineering and biotechnology. Among the different models for assessing protein production and structure-function studies, green fluorescent protein (GFP) is one of the preferred models because of its importance as a reporter in cellular and molecular studies. In this research we analyze the effect of codon deletions near the amino terminus of different GFP proteins on fluorescence. Our study includes Gly4 deletions in the enhanced GFP (EGFP), the red-shifted GFP and the red-shifted EGFP. The Gly4 deletion mutants and their corresponding wild-type counterparts were transcribed under the control of the T7 or Trc promoters and their expression patterns were analyzed. Different fluorescent outcomes were observed depending on the type of fluorescent gene versions. In silico analysis of the RNA secondary structures near the ribosome binding site revealed a direct relationship between their minimum free energy and GFP production. Integrative analysis of these results, including SDS-PAGE analysis, led us to conclude that the fluorescence improvement of cells expressing different versions of GFPs with Gly4 deleted is due to an enhancement of the accessibility of the ribosome binding site by reducing the stability of the RNA secondary structures at their mRNA leader regions. © 2016 S. Karger AG, Basel.

  6. New Versions of Old Favorites.

    ERIC Educational Resources Information Center

    Tenopir, Carol

    1999-01-01

    Describes Web versions of online systems and considers advantages and trade-offs for information professionals and other searchers. Web versions highlighted include Dow Jones Interactive; Dialog; LEXIS-NEXIS; and STN. (LRW)

  7. Previous MOVES Versions and Documentation

    EPA Pesticide Factsheets

    Find all software, user guides, and download and installation instructions for MOVES2010a and MOVES2010. Note that these version are not valid for SIP and transportation conformity purposes: MOVES2014 and MOVES2014a are the latest versions.

  8. Targeted chromosomal deletions and inversions in zebrafish.

    PubMed

    Gupta, Ankit; Hall, Victoria L; Kok, Fatma O; Shin, Masahiro; McNulty, Joseph C; Lawson, Nathan D; Wolfe, Scot A

    2013-06-01

    Zinc finger nucleases (ZFNs) and transcription activator-like effector nucleases (TALENs) provide powerful platforms for genome editing in plants and animals. Typically, a single nuclease is sufficient to disrupt the function of protein-coding genes through the introduction of microdeletions or insertions that cause frameshifts within an early coding exon. However, interrogating the function of cis-regulatory modules or noncoding RNAs in many instances requires the excision of this element from the genome. In human cell lines and invertebrates, two nucleases targeting the same chromosome can promote the deletion of intervening genomic segments with modest efficiencies. We have examined the feasibility of using this approach to delete chromosomal segments within the zebrafish genome, which would facilitate the functional study of large noncoding sequences in a vertebrate model of development. Herein, we demonstrate that segmental deletions within the zebrafish genome can be generated at multiple loci and are efficiently transmitted through the germline. Using two nucleases, we have successfully generated deletions of up to 69 kb at rates sufficient for germline transmission (1%-15%) and have excised an entire lincRNA gene and enhancer element. Larger deletions (5.5 Mb) can be generated in somatic cells, but at lower frequency (0.7%). Segmental inversions have also been generated, but the efficiency of these events is lower than the corresponding deletions. The ability to efficiently delete genomic segments in a vertebrate developmental system will facilitate the study of functional noncoding elements on an organismic level.

  9. Time Warp Operating System Version 2.7 Internals Manual

    DTIC Science & Technology

    1992-02-01

    AD-A271 489 Technology and Applications Programs Time Warp Operating System Version 2.7 Internals Manual OST 2 7 1993 AU I February 1992 Prepared for... Technology and Applications Programs Time Warp Operating System Version 2.7 i Internals Manual U I February 1992 ....-...- Prepared for U.S. Army Model...Administration by JPL Jet Propulsion Laboratory * ICalifornia Institute of Technology I- Pasadena, California *93-25933, 1 93 1. - ’.- JPL D-9516

  10. Nuflood, Version 1.x

    SciTech Connect

    Tasseff, Byron

    2016-07-29

    NUFLOOD Version 1.x is a surface-water hydrodynamic package designed for the simulation of overland flow of fluids. It consists of various routines to address a wide range of applications (e.g., rainfall-runoff, tsunami, storm surge) and real time, interactive visualization tools. NUFLOOD has been designed for general-purpose computers and workstations containing multi-core processors and/or graphics processing units. The software is easy to use and extensible, constructed in mind for instructors, students, and practicing engineers. NUFLOOD is intended to assist the water resource community in planning against water-related natural disasters.

  11. 1p36 deletion syndrome: an update

    PubMed Central

    Jordan, Valerie K; Zaveri, Hitisha P; Scott, Daryl A

    2015-01-01

    Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans. Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies. Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths located throughout the 30 Mb of DNA that comprise chromosome 1p36. Array-based copy number variant analysis can easily identify genomic regions of 1p36 that are deleted in an affected individual. However, predicting the phenotype of an individual based solely on the location and extent of their 1p36 deletion remains a challenge since most of the genes that contribute to 1p36-related phenotypes have yet to be identified. In addition, haploinsufficiency of more than one gene may contribute to some phenotypes. In this article, we review recent successes in the effort to map and identify the genes and genomic regions that contribute to specific 1p36-related phenotypes. In particular, we highlight evidence implicating MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1 in various 1p36 deletion phenotypes. PMID:26345236

  12. 1p36 deletion syndrome: an update.

    PubMed

    Jordan, Valerie K; Zaveri, Hitisha P; Scott, Daryl A

    2015-01-01

    Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans. Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies. Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths located throughout the 30 Mb of DNA that comprise chromosome 1p36. Array-based copy number variant analysis can easily identify genomic regions of 1p36 that are deleted in an affected individual. However, predicting the phenotype of an individual based solely on the location and extent of their 1p36 deletion remains a challenge since most of the genes that contribute to 1p36-related phenotypes have yet to be identified. In addition, haploinsufficiency of more than one gene may contribute to some phenotypes. In this article, we review recent successes in the effort to map and identify the genes and genomic regions that contribute to specific 1p36-related phenotypes. In particular, we highlight evidence implicating MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1 in various 1p36 deletion phenotypes.

  13. MCNP(TM) Version 5.

    SciTech Connect

    Cox, L. J.; Barrett, R. F.; Booth, Thomas Edward; Briesmeister, Judith F.; Brown, F. B.; Bull, J. S.; Giesler, G. C.; Goorley, J. T.; Mosteller, R. D.; Forster, R. A.; Post, S. E.; Prael, R. E.; Selcow, Elizabeth Carol,; Sood, A.

    2002-01-01

    The Monte Carlo transport workhorse, MCNP, is undergoing a massive renovation at Los Alamos National Laboratory (LANL) in support of the Eolus Project of the Advanced Simulation and Computing (ASCI) Program. MCNP Version 5 (V5) (expected to be released to RSICC in Spring, 2002) will consist of a major restructuring from FORTRAN-77 (with extensions) to ANSI-standard FORTRAN-90 with support for all of the features available in the present release (MCNP-4C2/4C3). To most users, the look-and-feel of MCNP will not change much except for the improvements (improved graphics, easier installation, better online documentation). For example, even with the major format change, full support for incremental patching will still be provided. In addition to the language and style updates, MCNP V5 will have various new user features. These include improved photon physics, neutral particle radiography, enhancements and additions to variance reduction methods, new source options, and improved parallelism support (PVM, MPI, OpenMP).

  14. Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28

    SciTech Connect

    Albright, S.G.; Rao, K.W.; Tennison, M.B.; Aylsworth, A.S.; Lachiewicz, A.M.; Tarleton, J.C.; Schwartz, C.E.; Richie, R.

    1994-07-15

    A 2-year-old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27-q28 including deletion of FMR-1. Molecular analysis of the patient was recently described in Tarleton et al. and the deletion was estimated to be at least 3 megabases (Mb). His mother had 2 FMR-1 alleles with normal numbers of CGG repeats, 20 and 32, respectively. Thus, the deletion occurred as a de novo event. The patient does not appear to have clinical or laboratory findings other than those typically associated with fragile X syndrome, suggesting that the deletion does not remove other contiguous genes. This report describes the phenotype of the patient, including psychological studies. 23 refs., 3 figs.

  15. 78 FR 21916 - Procurement List; Proposed Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-04-12

    ... Commissaryagency (DECA), Fort Lee, VA Deletions The following products and service are proposed for deletion from... Activity: Defense Commissaryagency (DECA), Fort Lee, VA Barry S. Lineback, Director, Business...

  16. Lisa Smith in MSFC's Laboratory Training Complex

    NASA Image and Video Library

    2015-02-11

    LISA SMITH, THE TRAINING TEAM LEAD IN MARSHALL'S MISSION OPERATIONS LAB, EXAMINES THE DRAWERS IN THE GLACIER MOCK-UP, A TRAINING VERSION OF A FREEZER ON THE INTERNATIONAL SPACE STATION INSTALLED IN THE MARSHALL CENTER'S LABORATORY TRAINING COMPLEX

  17. PCR detection of retinoblastoma gene deletions in radiation-induced mouse lung adenocarcinomas

    SciTech Connect

    Churchill, M.E.; Gemmell, M.A.; Woloschak, G.E.

    1994-05-01

    From 1971--1986, Argonne National Laboratory conducted a series of large-scale studies of tumor incidence in 40,000 BCF{sub 1} mice irradiated with {sup 60}Co {gamma}-rays or JANUS fission-spectrum neutrons. Polymerase chain reaction (PCR) technique was used to detect deletions in the mouse retinoblastoma (mRb) gene. Six mRb gene exon fragments were amplified in a 40-cycle, 3-temperature PCR protocol. Absence of any of these fragments on a Southern blot indicated a deletion of that portion of the mRb gene. Tumors chosen for analysis were lung adenocarcinomas that were judged to be the cause of death in post-mortem analyses. Spontaneous tumors as well as those from irradiated mice were analyzed for mRb deletions. In all normal mouse tissues studies all six mRb exon fragments were present on Southern blots. Tumors in six neutron-irradiated mice also had no mRb deletions. However, 1 of 6 tumors from {gamma}-irradiated mice and 6 of 18 spontaneous tumors from unirradiated mice showed a deletion in one or both mRb alleles. All deletions detected were in the 5{prime} region of the mRb gene.

  18. Laboratory Reagents

    SciTech Connect

    CARLSON, D.D.

    1999-10-08

    Replaced by WMH-310, Section 4.17. This document outlined the basic methodology for preparing laboratory reagents used in the 222-S Standards Laboratory. Included were general guidelines for drying, weighing, transferring, dissolving, and diluting techniques common when preparing laboratory reagents and standards. Appendix A contained some of the reagents prepared by the laboratory.

  19. Physics, Laboratory Manual-Student Version , 6th Edition

    NASA Astrophysics Data System (ADS)

    Cutnell, John D.; Johnson, Kenneth W.

    2004-01-01

    This Sixth Edition helps readers understand the interrelationships among basic physics concepts and how they fit together to describe our physical world. Throughout the book, the authors emphasize the relevance of physics to our everyday lives. Real-world physics applications, including many biomedical applications, show how physics principles come into play over and over again in our lives. Problem Solving Insights explain each calculation in detail, guiding readers through the quantitative process Includes a CD containing physics simulations

  20. User Manual for Graphical User Interface Version 2.10 with Fire and Smoke Simulation Model (FSSIM) Version 1.2

    DTIC Science & Technology

    2010-05-10

    Naval Research Laboratory Washington, DC 20375-5320 NRL/MR/6180--10-9244 User Manual for Graphical User Interface Version 2.10 with Fire and Smoke...ABSTRACT User Manual for Graphical User Interface Version 2.10 with Fire and Smoke Simulation Model (FSSIM) Version 1.2 Tomasz A. Haupt,* Gregory J...runtime environment for a third-party simulation package, Fire and Smoke Simulation (FSSIM) developed by HAI. This updated user’s manual for the

  1. A novel Xq22.1 deletion in a male with multiple congenital abnormalities and respiratory failure.

    PubMed

    Cao, Yang; Aypar, Umut

    2016-05-01

    Here we report the first male case of a novel Xq22.1 deletion. An 8-week-old boy with multiple congenital abnormalities and respiratory failure was referred to the Mayo Clinic Cytogenetics laboratory for testing. Chromosomal microarray analysis identified a novel 1.1 Mb deletion at Xq22.1. A similar deletion has only been described once in the literature in a female patient and her mother; both have intellectual disability and dysmorphic facial features. In addition, the mother had a son who died at 15 days due to breathing failure. Recently, a mouse model revealed that a 0.35 Mb sub-region, containing 4 genes, is sufficient to cause majority of the Xq22.1 deletion phenotypes. The deleted intervals in our male patient and the female patients contain 15 common genes, including the four described in the 0.35 Mb sub-region. Male mice with deletion of the 0.35 Mb sub-region died perinatally from respiratory failure due to pulmonary hypoplasia, consistent with the breathing problem and potential neonatal fatality in male patients. The phenotypes of the mouse models and the patients are strikingly similar; therefore, the deletion of these five genes (ARMCX5, ARMCX5-GPRASP2, GPRASP1, GPRASP2, and BHLHB9) is likely responsible for the novel Xq22.1 deletion syndrome. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  2. TOOLKIT, Version 2. 0

    SciTech Connect

    Schroeder, E.; Bagot, B.; McNeill, R.L.

    1990-05-09

    The purpose of this User's Guide is to show by example many of the features of Toolkit II. Some examples will be copies of screens as they appear while running the Toolkit. Other examples will show what the user should enter in various situations; in these instances, what the computer asserts will be in boldface and what the user responds will be in regular type. The User's Guide is divided into four sections. The first section, FOCUS Databases'', will give a broad overview of the Focus administrative databases that are available on the VAX; easy-to-use reports are available for most of them in the Toolkit. The second section, Getting Started'', will cover the steps necessary to log onto the Computer Center VAX cluster and how to start Focus and the Toolkit. The third section, Using the Toolkit'', will discuss some of the features in the Toolkit -- the available reports and how to access them, as well as some utilities. The fourth section, Helpful Hints'', will cover some useful facts about the VAX and Focus as well as some of the more common problems that can occur. The Toolkit is not set in concrete but is continually being revised and improved. If you have any opinions as to changes that you would like to see made to the Toolkit or new features that you would like included, please let us know. Since we do try to respond to the needs of the user and make periodic improvement to the Toolkit, this User's Guide may not correspond exactly to what is available in the computer. In general, changes are made to provide new options or features; rarely is an existing feature deleted.

  3. 19 CFR 142.49 - Deletion of C-4 Code.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... director may temporarily or permanently delete an entry filer's C-4 Code without providing the participant.... Entry filers may delete C-4 Codes from Line Release by notifying the port director in writing on a Deletion Data Loading Sheet. Such notification shall state the C-4 Code which is to be deleted, the port...

  4. 19 CFR 142.49 - Deletion of C-4 Code.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... director may temporarily or permanently delete an entry filer's C-4 Code without providing the participant.... Entry filers may delete C-4 Codes from Line Release by notifying the port director in writing on a Deletion Data Loading Sheet. Such notification shall state the C-4 Code which is to be deleted, the port...

  5. 46 CFR 67.171 - Deletion; requirement and procedure.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 46 Shipping 2 2014-10-01 2014-10-01 false Deletion; requirement and procedure. 67.171 Section 67...; Requirement for Exchange, Replacement, Deletion, Cancellation § 67.171 Deletion; requirement and procedure. (a... provided in § 67.161, and the vessel is subject to deletion from the roll of actively documented vessels...

  6. 46 CFR 67.171 - Deletion; requirement and procedure.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 46 Shipping 2 2013-10-01 2013-10-01 false Deletion; requirement and procedure. 67.171 Section 67...; Requirement for Exchange, Replacement, Deletion, Cancellation § 67.171 Deletion; requirement and procedure. (a... provided in § 67.161, and the vessel is subject to deletion from the roll of actively documented vessels...

  7. 46 CFR 67.171 - Deletion; requirement and procedure.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 46 Shipping 2 2011-10-01 2011-10-01 false Deletion; requirement and procedure. 67.171 Section 67...; Requirement for Exchange, Replacement, Deletion, Cancellation § 67.171 Deletion; requirement and procedure. (a... provided in § 67.161, and the vessel is subject to deletion from the roll of actively documented vessels...

  8. 46 CFR 67.171 - Deletion; requirement and procedure.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 46 Shipping 2 2012-10-01 2012-10-01 false Deletion; requirement and procedure. 67.171 Section 67...; Requirement for Exchange, Replacement, Deletion, Cancellation § 67.171 Deletion; requirement and procedure. (a... provided in § 67.161, and the vessel is subject to deletion from the roll of actively documented vessels...

  9. 46 CFR 67.171 - Deletion; requirement and procedure.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 46 Shipping 2 2010-10-01 2010-10-01 false Deletion; requirement and procedure. 67.171 Section 67...; Requirement for Exchange, Replacement, Deletion, Cancellation § 67.171 Deletion; requirement and procedure. (a... provided in § 67.161, and the vessel is subject to deletion from the roll of actively documented vessels...

  10. Femaxi-6 Version 1

    SciTech Connect

    Suzuki, Motoe

    2006-10-01

    FEMAXI-6(Updated) predicts the thermal and mechanical behaviour of a light water reactor fuel rod during normal and transient (not accident) conditions. It can analyse the integral behaviour of a whole fuel rod throughout its life as well as the localised behaviour of a small part of fuel rod. Temperature distribution, radial and axial deformations, fission gas release, and inner gas pressure are calculated as a function of irradiation time and axial position. Stresses and strains in the pellet and cladding are calculated and PCMI analysis is performed. Also, thermal conductivity degradation of pellet and cladding waterside oxidation are modeled. Its analytical capabilities also cover the boiling transient anticipated in BWR. RODBURN calculates the power generation density profile in the radial and axial directions and fast neutron flux, and concentrations of fission product isotopes and fissile materials of a single rod irradiated in PWR, BWR and Halden BWR. RODBURN gives an output file which can be read by FEMAXI-6. NEA-1080/10: This version differs from the previous one in the following: a few formulae were updated in the manual and the source code. the input options were expanded in the following points: Thermal expansion modelling; Pellet swelling option; Pellet plasticity model; Cladding surface heat transfer model All changes are marked in red in the reference report.

  11. Rapid deletion production in fungi via Agrobacterium mediated transformation of OSCAR deletion contructs.

    USDA-ARS?s Scientific Manuscript database

    Precise deletion of gene(s) of interest, while leaving the rest of the genome unchanged, provides the ideal product to determine that particular gene’s function in the living organism. In this protocol we describe the OSCAR method of precise and rapid deletion plasmid construction. OSCAR relies on t...

  12. Somatic mosaicism for a DMD gene deletion

    SciTech Connect

    Saito, Kayoko; Ikeya, Kiyoko; Kondo, Eri

    1995-03-13

    Mosaicism is a mixed state, with two cell populations of different genetic origins caused by a cell mutation occurring after fertilization. In the present case, DNA analysis of lymphocytes led to a DMD diagnosis before death. Postmortem immunocytochemical and DNA analysis showed somatic mosaicism. At age 18 years, blood lymphocyte DNA analysis showed a DMD gene deletion, upstream from exon 7 to the 5{prime} end containing both muscle and brain promoters. As the patient`s mother and elder sister had no deletions, he was considered to have a new mutation. Immunocytochemical studies of postmortem tissues showed that dystrophin was absent from the tongue, deltoid, intercostal, psoas and rectus femoris muscles, but there was a mix of dystrophin-positive and negative fibers in the rectus abdominis, cardiac, temporalis and sternocleidomastoid muscles. All diaphragm cells were dystrophin positive. Polymerase chain reaction (PCR) amplification from all tissues except the temporalis and sternocleidomastoid muscles, diaphragm and kidney, in which no deletion was found, showed the deletion from at least exon 6 to the 5{prime} end containing both muscle and brain promoters. In this case, a genomic deletion of the DMD gene contributed to the formation of tissues derived from both ectoderm and endoderm, and cells of mesodermal origin showed genotypic and phenotypic heterogeneity. Our results indicate a mutation of the present case may have occurred just before the period of germ layer formation. 34 refs., 7 figs.

  13. Chromosome 7q31.1 deletion in myeloid neoplasms.

    PubMed

    Tripputi, Pasquale; Bianchi, Paola; Fermo, Elisa; Bignotto, Monica; Zanella, Alberto

    2014-02-01

    We studied monosomy and deletions of chromosome 7 in 208 patients with myeloid disorders; we found 39 patients (19%) with monosomy or deletion of chromosome 7: 24 patients with chromosome 7 deletion and 15 with monosomy 7. In the 24 patients with chromosome 7 deletions, studied with copy-number variants, short-tandem repeats, microsatellites, single nucleotide polymorphisms, and deletion polymorphisms, the most common deleted region was 7q31.1 (20 patients). Deletion polymorphism studies performed in these 20 patients showed an interstitial deletion of at least 140 kilobase in 6 patients; the deletion spans between the genes forkhead box P2 and Myo D family inhibitor domain containing. Because both genes do not seem to be involved in leukogenesis, we suggest to look carefully into this deletion for the presence of tumor suppressor genes and microRNAs. © 2014.

  14. Repeats, longevity and the sources of mtDNA deletions: evidence from “deletional spectra”

    PubMed Central

    Guo, Xinhong; Popadin, Konstantin Yu.; Markuzon, Natalya; Orlov, Yuriy L.; Kraytsberg, Yevgenya; Krishnan, Kim. J.; Zsurka, Gabor; Turnbull, Douglas M.; Kunz, Wolfram S.; Khrapko, Konstantin

    2010-01-01

    Perfect direct repeats and, in particular, the prominent 13-bp repeat, are thought to cause mitochondrial DNA (mtDNA) deletions, which have been associated with the aging process. Accordingly, individuals lacking the 13-bp repeat are highly prevalent among centenarians and the number of repeats negatively correlates with mammalian longevity. However, detailed examination of the distribution of mtDNA deletions challenges the role of the 13-bp repeat and other perfect repeats in generating mtDNA deletions. Instead, deletions appear to depend on long and stable, albeit imperfect, duplexes between distant mtDNA segments. Furthermore, significant dissimilarities in breakpoint distributions suggest that multiple mechanisms are involved in creating mtDNA deletions. PMID:20591530

  15. Bacterial genome reduction using the progressive clustering of deletions via yeast sexual cycling

    DOE PAGES

    Suzuki, Yo; Assad-Garcia, Nacyra; Kostylev, Maxim; ...

    2015-02-05

    The availability of genetically tractable organisms with simple genomes is critical for the rapid, systems-level understanding of basic biological processes. Mycoplasma bacteria, with the smallest known genomes among free-living cellular organisms, are ideal models for this purpose, but the natural versions of these cells have genome complexities still too great to offer a comprehensive view of a fundamental life form. Here in this paper we describe an efficient method for reducing genomes from these organisms by identifying individually deletable regions using transposon mutagenesis and progressively clustering deleted genomic segments using meiotic recombination between the bacterial genomes harbored in yeast. Mycoplasmalmore » genomes subjected to this process and transplanted into recipient cells yielded two mycoplasma strains. The first simultaneously lacked eight singly deletable regions of the genome, representing a total of 91 genes and ~10%of the original genome. The second strain lacked seven of the eight regions, representing 84 genes. Growth assay data revealed an absence of genetic interactions among the 91 genes under tested conditions. Despite predicted effects of the deletions on sugar metabolism and the proteome, growth rates were unaffected by the gene deletions in the seven-deletion strain. These results support the feasibility of using single-gene disruption data to design and construct viable genomes lacking multiple genes, paving the way toward genome minimization. The progressive clustering method is expected to be effective for the reorganization of any mega-sized DNA molecules cloned in yeast, facilitating the construction of designer genomes in microbes as well as genomic fragments for genetic engineering of higher eukaryotes.« less

  16. Bacterial genome reduction using the progressive clustering of deletions via yeast sexual cycling

    SciTech Connect

    Suzuki, Yo; Assad-Garcia, Nacyra; Kostylev, Maxim; Noskov, Vladimir N.; Wise, Kim S.; Karas, Bogumil J.; Stam, Jason; Montague, Michael G.; Hanly, Timothy J.; Enriquez, Nico J.; Ramon, Adi; Goldgof, Gregory M.; Richter, R. Alexander; Vashee, Sanjay; Chuang, Ray-Yuan; Winzeler, Elizabeth A.; Hutchison, Clyde A.; Gibson, Daniel G.; Smith, Hamilton O.; Glass, John I.; Venter, J. Craig

    2015-02-05

    The availability of genetically tractable organisms with simple genomes is critical for the rapid, systems-level understanding of basic biological processes. Mycoplasma bacteria, with the smallest known genomes among free-living cellular organisms, are ideal models for this purpose, but the natural versions of these cells have genome complexities still too great to offer a comprehensive view of a fundamental life form. Here in this paper we describe an efficient method for reducing genomes from these organisms by identifying individually deletable regions using transposon mutagenesis and progressively clustering deleted genomic segments using meiotic recombination between the bacterial genomes harbored in yeast. Mycoplasmal genomes subjected to this process and transplanted into recipient cells yielded two mycoplasma strains. The first simultaneously lacked eight singly deletable regions of the genome, representing a total of 91 genes and ~10%of the original genome. The second strain lacked seven of the eight regions, representing 84 genes. Growth assay data revealed an absence of genetic interactions among the 91 genes under tested conditions. Despite predicted effects of the deletions on sugar metabolism and the proteome, growth rates were unaffected by the gene deletions in the seven-deletion strain. These results support the feasibility of using single-gene disruption data to design and construct viable genomes lacking multiple genes, paving the way toward genome minimization. The progressive clustering method is expected to be effective for the reorganization of any mega-sized DNA molecules cloned in yeast, facilitating the construction of designer genomes in microbes as well as genomic fragments for genetic engineering of higher eukaryotes.

  17. Bacterial genome reduction using the progressive clustering of deletions via yeast sexual cycling

    PubMed Central

    Assad-Garcia, Nacyra; Kostylev, Maxim; Noskov, Vladimir N.; Wise, Kim S.; Karas, Bogumil J.; Stam, Jason; Montague, Michael G.; Hanly, Timothy J.; Enriquez, Nico J.; Ramon, Adi; Goldgof, Gregory M.; Richter, R. Alexander; Vashee, Sanjay; Chuang, Ray-Yuan; Winzeler, Elizabeth A.; Hutchison, Clyde A.; Gibson, Daniel G.; Smith, Hamilton O.; Glass, John I.; Venter, J. Craig

    2015-01-01

    The availability of genetically tractable organisms with simple genomes is critical for the rapid, systems-level understanding of basic biological processes. Mycoplasma bacteria, with the smallest known genomes among free-living cellular organisms, are ideal models for this purpose, but the natural versions of these cells have genome complexities still too great to offer a comprehensive view of a fundamental life form. Here we describe an efficient method for reducing genomes from these organisms by identifying individually deletable regions using transposon mutagenesis and progressively clustering deleted genomic segments using meiotic recombination between the bacterial genomes harbored in yeast. Mycoplasmal genomes subjected to this process and transplanted into recipient cells yielded two mycoplasma strains. The first simultaneously lacked eight singly deletable regions of the genome, representing a total of 91 genes and ∼10% of the original genome. The second strain lacked seven of the eight regions, representing 84 genes. Growth assay data revealed an absence of genetic interactions among the 91 genes under tested conditions. Despite predicted effects of the deletions on sugar metabolism and the proteome, growth rates were unaffected by the gene deletions in the seven-deletion strain. These results support the feasibility of using single-gene disruption data to design and construct viable genomes lacking multiple genes, paving the way toward genome minimization. The progressive clustering method is expected to be effective for the reorganization of any mega-sized DNA molecules cloned in yeast, facilitating the construction of designer genomes in microbes as well as genomic fragments for genetic engineering of higher eukaryotes. PMID:25654978

  18. Laboratory Tests

    MedlinePlus

    Laboratory tests check a sample of your blood, urine, or body tissues. A technician or your doctor ... compare your results to results from previous tests. Laboratory tests are often part of a routine checkup ...

  19. Monosomy 1p36 deletion syndrome.

    PubMed

    Gajecka, Marzena; Mackay, Katherine L; Shaffer, Lisa G

    2007-11-15

    Monosomy 1p36 results from a heterozygous deletion of the most distal chromosomal band on the short arm of chromosome 1. Occurring in approximately 1 in 5,000 live births, monosomy 1p36 is the most common terminal deletion observed in humans. Monosomy 1p36 is associated with mental retardation, developmental delay, hearing impairment, seizures, growth impairment, hypotonia, and heart defects. The syndrome is also characterized by several distinct dysmorphic features, including large anterior fontanels, microcephaly, brachycephaly, deep-set eyes, flat nose and nasal bridge, and pointed chin. Several genes have been proposed as causative for individual features of the phenotype. In addition, based upon molecular characterization of subjects with monosomy 1p36, several mechanisms for the generation and stabilization of terminal deletions have been proposed.

  20. Method for introducing unidirectional nested deletions

    DOEpatents

    Dunn, John J.; Quesada, Mark A.; Randesi, Matthew

    2001-01-01

    Disclosed is a method for the introduction of unidirectional deletions in a cloned DNA segment in the context of a cloning vector which contains an f1 endonuclease recognition sequence adjacent to the insertion site of the DNA segment. Also disclosed is a method for producing single-stranded DNA probes utilizing the same cloning vector. An optimal vector, PZIP is described. Methods for introducing unidirectional deletions into a terminal location of a cloned DNA sequence which is inserted into the vector of the present invention are also disclosed. These methods are useful for introducing deletions into either or both ends of a cloned DNA insert, for high throughput sequencing of any DNA of interest.

  1. Novel Functions of Photoreceptor Guanylate Cyclases Revealed by Targeted Deletion

    PubMed Central

    Karan, Sukanya; Frederick, Jeanne M.; Baehr, Wolfgang

    2010-01-01

    Targeted deletion of membrane guanylyl cyclases (GCs) has yielded new information concerning their function. Here, we summarize briefly recent results of laboratory generated non-photoreceptor GC knockouts characterized by complex phenotypes affecting the vasculature, heart, brain, kidney and other tissues. The main emphasis of the review, however, addresses the two GCs expressed in retinal photoreceptors, termed GC-E and GC-F. Naturally occurring GC-E (GUCY2D) null alleles in human and chicken are associated with an early onset blinding disorder, termed ‘Leber Congenital Amaurosis type 1’ (LCA-1), characterized by extinguished scotopic and photopic ERGs, and retina degeneration. In mouse, a GC-E null genotype produces a recessive cone dystrophy, while rods remain functional. Rod function is supported by the presence of GC-F (Gucy2f), a close relative of GC-E. Deletion of Gucy2f has very little effect on rod and cone physiology and survival. However, a GC-E/GC-F double knockout (GCdko) phenotypically resembles human LCA-1 with extinguished ERGs and rod/cone degneration. In GCdko rods, PDE6 and GCAPs are absent in outer segments. In contrast, GC-E-/- cones lack proteins of the entire phototransduction cascade. These results suggest that GC-E may participate in transport of peripheral membrane proteins from the endoplasmic reticulum (ER) to the outer segments. PMID:20012162

  2. brulilo, Version 0.x

    SciTech Connect

    Malone, Chris

    2015-04-16

    remove some of the stiffness and allow for efficient explicit integration techniques to be used. The original intent of brulilo was to implement these stiffness-alleviating techniques with explicit integrators and compare the performance to traditional implicit integrations of the full stiff system. This is still underway, as the code is very much in an alpha-release state. Furthermore, explicit integrators are often much easier to parallelize than their implicit counterparts. brulilo will implement parallelization of these techniques, leveraging both the Python implementation of MPI, mpi4py, as well as highly parallelized versions targeted at GPUs with PyOpenCL and/or PyCUDA.

  3. ASSESSMENT OF RADIONUCLIDES DATABASES IN CAP88 MAINFRAME VERSION 1.0 AND WINDOWS-BASED VERSION 3.0

    SciTech Connect

    Farfan, E.; Lee, P.; Jannik, T.; Donnelly, E.

    2008-09-16

    In this study the radionuclide databases for two versions of the Clean Air Act Assessment Package-1988 (CAP88) computer model were assessed in detail. CAP88 estimates radiation dose and the risk of health effects to human populations from radionuclide emissions to air. This program is used by several Department of Energy (DOE) facilities to comply with National Emission Standards for Hazardous Air Pollutants (NESHAP) regulations. CAP88 Mainframe, referred to as Version 1.0 on the Environmental Protection Agency (EPA) website (http://www.epa.gov/radiation/assessment/CAP88/), was the very first CAP88 version released in 1988. Some DOE facilities including the Savannah River Site still employ this version (1.0) while others use the more user-friendly personal computer Windows-based Version 3.0 released in December 2007. Version 1.0 uses the program RADRISK based on International Commission on Radiological Protection (ICRP) Publication 30 as its radionuclide database. Version 3.0 uses half-life, dose and risk factor values based on Federal Guidance Report 13. Differences in these values could cause different results for the same input exposure data (same scenario), depending on which version of CAP88 is used. Consequently, the differences between the two versions are being assessed in detail at Savannah River National Laboratory. The version 1.0 and 3.0 database files contain 496 and 838 radionuclides, respectively, and though one would expect the newer version to include all the 496 radionuclides, thirty-five radionuclides are listed in version 1.0 that are not included in version 3.0. The majority of these has either extremely short or long half-lives or is no longer in production; however, some of the short-lived radionuclides might produce progeny of great interest at DOE sites. In addition, one hundred and twenty-two radionuclides were found to have different half-lives in the two versions, with 21 over 3 percent different and 12 over 10 percent different.

  4. Assessment of radionuclide databases in CAP88 mainframe version 1.0 and Windows-based version 3.0.

    PubMed

    LaBone, Elizabeth D; Farfán, Eduardo B; Lee, Patricia L; Jannik, G Timothy; Donnelly, Elizabeth H; Foley, Trevor Q

    2009-09-01

    In this study the radionuclide databases for two versions of the Clean Air Act Assessment Package-1988 (CAP88) computer model were assessed in detail. CAP88 estimates radiation dose and the risk of health effects to human populations from radionuclide emissions to air. This program is used by several U.S. Department of Energy (DOE) facilities to comply with National Emission Standards for Hazardous Air Pollutants regulations. CAP88 Mainframe, referred to as version 1.0 on the U.S. Environmental Protection Agency Web site (http://www.epa.gov/radiation/assessment/CAP88/), was the very first CAP88 version released in 1988. Some DOE facilities including the Savannah River Site still employ this version (1.0) while others use the more user-friendly personal computer Windows-based version 3.0 released in December 2007. Version 1.0 uses the program RADRISK based on International Commission on Radiological Protection Publication 30 as its radionuclide database. Version 3.0 uses half-life, dose, and risk factor values based on Federal Guidance Report 13. Differences in these values could cause different results for the same input exposure data (same scenario), depending on which version of CAP88 is used. Consequently, the differences between the two versions are being assessed in detail at Savannah River National Laboratory. The version 1.0 and 3.0 database files contain 496 and 838 radionuclides, respectively, and though one would expect the newer version to include all the 496 radionuclides, 35 radionuclides are listed in version 1.0 that are not included in version 3.0. The majority of these has either extremely short or long half-lives or is no longer in production; however, some of the short-lived radionuclides might produce progeny of great interest at DOE sites. In addition, 122 radionuclides were found to have different half-lives in the two versions, with 21 over 3 percent different and 12 over 10 percent different.

  5. Diffusion Activities in College Laboratory Manuals

    ERIC Educational Resources Information Center

    Tweedy, Maryanne E.; Hoese, William J.

    2005-01-01

    Many have called for reform of the science curriculum to incorporate the process of inquiry: this has been shown to improve student understanding of biological concepts. Laboratory activities provide excellent opportunities to incorporate inquiry in to the curriculum. This study used a modified version of the Laboratory Task Analysis Instrument…

  6. Chronic lymphocytic leukaemia with 17p deletion: a retrospective analysis of prognostic factors and therapy results.

    PubMed

    Delgado, Julio; Espinet, Blanca; Oliveira, Ana C; Abrisqueta, Pau; de la Serna, Javier; Collado, Rosa; Loscertales, Javier; Lopez, Montserrat; Hernandez-Rivas, Jose A; Ferra, Christelle; Ramirez, Angel; Roncero, Josep M; Lopez, Cristina; Aventin, Anna; Puiggros, Anna; Abella, Eugenia; Carbonell, Felix; Costa, Dolors; Carrio, Anna; Gonzalez, Marcos

    2012-04-01

    Patients with chronic lymphocytic leukaemia (CLL) whose tumour cells harbour a 17p deletion (17p-) are universally considered to have a poor prognosis. The deletion can be detected at diagnosis or during the evolution of the disease, particularly in patients who have received chemotherapy. We sought to evaluate the natural history of patients with 17p- CLL, identify predictive factors within this prognostic subgroup, and evaluate the results of different therapeutic approaches. Data from 294 patients with 17p- CLL followed up at 20 different institutions was retrospectively collected and analysed. Median age was 68 (range 27-98) years at the time of fluorescence in situ hybridization analysis. After 17p- documentation, 52% received treatment, achieving an overall response rate of 50%. Median overall survival was 41 months, and was significantly shorter in patients with elevated beta(2)-microglobulin concentration (P < 0·001), B symptoms (P = 0·016), higher percentage of cells with deletion (P < 0·001), and acquired deletions (P = 0·012). These findings suggest that patients with 17p- CLL have a variable prognosis that can be refined using simple clinical and laboratory features, including 17p- clone size, beta2-microglobulin concentration, presence of B symptoms and type of deletion (de novo versus acquired). © 2012 Blackwell Publishing Ltd.

  7. The deletion of YLR042c improves ethanolic xylose fermentation by recombinant Saccharomyces cerevisiae.

    PubMed

    Parachin, Nádia S; Bengtsson, Oskar; Hahn-Hägerdal, Bärbel; Gorwa-Grauslund, Marie-F

    2010-09-01

    In a recent study combining transcriptome analyses of a number of recombinant laboratory and industrial S. cerevisiae strains with improved xylose utilization and their respective control strains, the ORF YLR042c was identified as a downregulated gene and it was shown that the gene deletion improved aerobic growth on xylose in the tested strain background. In the present study, the influence of deleting YLR042c on xylose fermentation was investigated in two different xylose-fermenting strains: TMB3001, which expresses genes from the initial xylose catabolizing pathway, including heterologous xylose reductase (XR) and xylitol dehydrogenase (XDH) and endogenous xylulokinase (XK); and TMB3057, which, in addition to the initial xylose catabolizing pathway, overexpresses the endogenous genes encoding the non-oxidative pentose phosphate pathway enzymes. The deletion of YLR042c led to improved aerobic growth on xylose in both strain backgrounds. However, the effect was more significant in the strain with the poorer growth rate on xylose (TMB3001). Under anaerobic conditions, the deletion of YLR042c increased the specific xylose consumption rate and the ethanol and xylitol yields. In strain TMB3057, xylose consumption was also improved at low concentrations and during co-fermentation of xylose and glucose. The effect of the gene deletion and overexpression was also tested for different carbon sources. Altogether, these results suggest that YLR042c influences xylose and the assimilation of carbon sources other than glucose, and that the effect could be at the level of sugar transport or sugar signalling.

  8. Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.

    PubMed

    Varela, Monica Castro; Kok, Fernando; Otto, Paulo Alberto; Koiffmann, Celia Priszkulnik

    2004-12-01

    Angelman syndrome (AS) can result from either a 15q11-q13 deletion (del), paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. Here, we describe the phenotypic and behavioral variability detected in 49 patients with different classes of deletions and nine patients with UPD. Diagnosis was made by methylation pattern analysis of exon 1 of the SNRPN-SNURF gene and by microsatellite profiling of loci within and outside the 15q11-q13 region. There were no major phenotypic differences between the two main classes (BP1-BP3; BP2-BP3) of AS deletion patients, except for the absence of vocalization, more prevalent in patients with BP1-BP3 deletions, and for the age of sitting without support, which was lower in patients with BP2-BP3 deletions. Our data suggest that gene deletions (NIPA1, NIPA2, CYF1P1, GCP5) mapped to the region between breakpoints BP1 and BP2 may be involved in the severity of speech impairment, since all BP1-BP3 deletion patients showed complete absence of vocalization, while 38.1% of the BP2-BP3 deletion patients were able to pronounce syllabic sounds, with doubtful meaning. Compared to UPD patients, deletion patients presented a higher incidence of swallowing disorders (73.9% del x 22.2% UPD) and hypotonia (73.3% del x 28.57% UPD). In addition, children with UPD showed better physical growth, fewer or no seizures, a lower incidence of microcephaly, less ataxia and higher cognitive skills. As a consequence of their milder or less typical phenotype, AS may remain undiagnosed, leading to an overall underdiagnosis of the disease.

  9. Ossperixml version 1

    SciTech Connect

    Schulz, M.; Hanson-Smith, V.

    2007-09-14

    As of 2007, there exist several software packages for dynamic instrumentation and performance analysis of applications on single and multi-node systems. Open/SpeedShop is an open-source package co-funded by the Department of Energy (DOE) and managed by LLNL, LANL, and Sandia National Laboratories. TAU (Tuning and Analysis Utilities) is a profiling toolkit developed at the Univesity of Oregon. Open/SpeedShop, TAU, (and other software packages) provide overlapping features and implement analogous databases. Unfortunately, incongruous file formats and disparate database schemas thwart interoperability between these performance tools. In response to the challenge of tool-interoperability, the Performance Engineering Research Institute (PERI) promotes an XML standard for performance data. We adopted the PERI XML format as a tool-agnostic medium between Open/SpeedShop and TAU. We architected a C++ language library to export PERI-formatted performance data from Open/SpteedShop. Our library builds an XML document which contains a description of the application, performance metrics for that application, and metadata about the system architecture.

  10. Deletion 5q35.3

    SciTech Connect

    Stratton, R.F.; Tedrowe, N.A.; Tolworthy, J.A.; Patterson, R.M.; Ryan, S.G.; Young, R.S.

    1994-06-01

    The authors report on a 15-month-old boy with a de novo deletion of the terminal band of 5q, macrocephaly, mild retrognathia, anteverted nares with low flat nasal bridge, telecanthus, minor earlobe anomalies, bellshaped chest, diastasis recti, short fingers, and mild developmental delay.

  11. Interstitial deletion (6)q13q15

    SciTech Connect

    Gershoni-Baruch, R.; Mandel, H.; Bar El, H.; Bar-Nizan, N.; Borochowitz, Z.; Dar, Hanna

    1996-04-24

    We report on a 2-year-old child with psychomotor retardation, facial and urogenital anomalies. His chromosome constitution was 46,XY,del(6)(q13q15). This case further contributes to the karyotype-phenotype correlation of proximal deletion 6q syndromes. 18 refs., 3 figs., 1 tab.

  12. 22q11 deletion syndrome: current perspective

    PubMed Central

    Hacıhamdioğlu, Bülent; Hacıhamdioğlu, Duygu; Delil, Kenan

    2015-01-01

    Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is associated with a wide variety of phenotypes. The term 22q11DS is an umbrella term that is used to encompass all 22q11.2 deletion-associated phenotypes. The haploinsufficiency of genes located at 22q11.2 affects the early morphogenesis of the pharyngeal arches, heart, skeleton, and brain. TBX1 is the most important gene for 22q11DS. This syndrome can ultimately affect many organs or systems; therefore, it has a very wide phenotypic spectrum. An increasing amount of information is available related to the pathogenesis, clinical phenotypes, and management of this syndrome in recent years. This review summarizes the current clinical and genetic status related to 22q11DS. PMID:26056486

  13. Nature of frequent deletions in CEBPA.

    PubMed

    Fuchs, Ota; Kostecka, Arnost; Provaznikova, Dana; Krasna, Blazena; Brezinova, Jana; Filkukova, Jitka; Kotlin, Roman; Kouba, Michal; Kobylka, Petr; Neuwirtova, Radana; Jonasova, Anna; Caniga, Miroslav; Schwarz, Jiri; Markova, Jana; Maaloufova, Jacqueline; Sponerova, Dana; Novakova, Ludmila; Cermak, Jaroslav

    2009-01-01

    C/EBPalpha (CCAAT/enhancer binding protein alpha) belongs to the family of leucine zipper transcription factors and is necessary for transcriptional control of granulocyte, adipocyte and hepatocyte differentiation, glucose metabolism and lung development. C/EBPalpha is encoded by an intronless gene. CEBPA mutations cause a myeloid differentiation block and were detected in acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), multiple myeloma and non-Hodgkin's lymphoma (NHL) patients. In this study we identified in 41 individuals from 824 screened individuals (290 AML patients, 382 MDS patients, 56 NHL patients and 96 healthy individuals) a single class of 23 deletions in CEBPA gene which involved a direct repeat of at least 2 bp. These mutations are characterised by the loss of one of two same repeats at the ends of deleted sequence. Three most frequent repeats included in these deletions in CEBPA gene are CGCGAG (493-498_865-870), GCCAAGCAGC (508-517_907-916) and GG (486-487_885-886), all according to GenBank accession no. NM_004364.2. A mechanism for deletion formation between two repetitive sequences can be recombination events in the repair process. Double-stranded cut in DNA can initiate these recombination events of adjacent DNA sequences.

  14. Chromosomal deletions in the myelodysplastic syndrome.

    PubMed

    Mufti, G J

    1992-01-01

    Karyotypic abnormalities in primary myelodysplastic syndrome (P-MDS) are less frequent than in secondary myelodysplasia. A review of the literature involving over 3000 reported cases, shows the incidence of karyotypically abnormal clones at presentation in nearly 48% of cases. Approximately 50% of the abnormalities comprise of deletions of chromosomes 5, 7, 11, 12, 13 and 20. Localisation of a number of haemopoietic growth factors and their receptors to the deleted segments of the chromosomes, has invoked considerable interest in the molecular pathology of the interstitial deletions and their consequent role in the multistep pathogenesis of MDS. Present evidence suggests chromosome abnormalities are a later event in the multistep painogenesis, and it is suggested their occurrence may be restricted to a restricted myeloid progenitor cell, although the initial event(s) occur at the common lymphoid-myeloid progenitor. Much has been gleaned from the dominant modes of leukaemogenesis, such as the occurrence of missense mutations at specific positions of RAS and FMS mutations. It is suggested that a similar enquiry into the mechanisms of chromosomal deletions in P-MDS is required in order to delineate the role of these abnormalities in the clonal evolution of this group of diseases.

  15. Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion.

    PubMed

    Böhm, D; Hoffmann, K; Laccone, F; Wilken, B; Dechent, P; Frahm, J; Bartels, I; Bohlander, S K

    2006-02-15

    We report on a young woman with Jacobsen syndrome (JBS) who was admitted to our psychiatric department because of a bipolar affective disorder (BPAD). Chromosome analysis was performed due to the fact that she had mental retardation, short stature, and subtle facial anomalies. A deletion of the distal long arm of chromosome 11 was found. A detailed mapping of the deletion breakpoint by quantitative real time PCR revealed a true terminal 11q deletion of approximately 8 Mb corresponding to the karyotype 46,XX,del(11)(q24.2). Polymorphic DNA marker analysis showed that the deletion is located on the paternal chromosome. Additionally, laboratory investigations revealed a low platelet count and magnetic resonance imaging of the brain showed white matter T2 hyperintensities in frontotemporal regions, which are unlikely to result from a demyelinating process as indicated by localized proton magnetic resonance spectroscopy. To our knowledge, this is the first report describing a BPAD in a case with JBS.

  16. Deletional Protein Engineering Based on Stable Fold

    PubMed Central

    Sokalingam, Sriram; Yun, Hyungdon; Lee, Sun-Gu

    2012-01-01

    Diversification of protein sequence-structure space is a major concern in protein engineering. Deletion mutagenesis can generate a protein sequence-structure space different from substitution mutagenesis mediated space, but it has not been widely used in protein engineering compared to substitution mutagenesis, because it causes a relatively huge range of structural perturbations of target proteins which often inactivates the proteins. In this study, we demonstrate that, using green fluorescent protein (GFP) as a model system, the drawback of the deletional protein engineering can be overcome by employing the protein structure with high stability. The systematic dissection of N-terminal, C-terminal and internal sequences of GFPs with two different stabilities showed that GFP with high stability (s-GFP), was more tolerant to the elimination of amino acids compared to a GFP with normal stability (n-GFP). The deletion studies of s-GFP enabled us to achieve three interesting variants viz. s-DL4, s-N14, and s-C225, which could not been obtained from n-GFP. The deletion of 191–196 loop sequences led to the variant s-DL4 that was expressed predominantly as insoluble form but mostly active. The s-N14 and s-C225 are the variants without the amino acid residues involving secondary structures around N- and C-terminals of GFP fold respectively, exhibiting comparable biophysical properties of the n-GFP. Structural analysis of the variants through computational modeling study gave a few structural insights that can explain the spectral properties of the variants. Our study suggests that the protein sequence-structure space of deletion mutants can be more efficiently explored by employing the protein structure with higher stability. PMID:23240034

  17. 5p14 deletion associated with microcephaly and seizures

    PubMed Central

    Johnson, E.; Marinescu, R; Punnett, H.; Tenenholz, B.; Overhauser, J.

    2000-01-01

    We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, seizures, and global developmental delay. The extent of the 5p14 deletion was determined using fluorescence in situ hybridisation (FISH). The deletion in this present family is smaller than a deletion previously described in a multigenerational family that lacks any clinical phenotype. This report shows that a 5p14 deletion does not always lead to a normal phenotype.


Keywords: interstitial deletion; chromosome 5; fluorescence in situ hybridisation; cri du chat syndrome PMID:10662813

  18. Checkpointing in speculative versioning caches

    DOEpatents

    Eichenberger, Alexandre E; Gara, Alan; Gschwind, Michael K; Ohmacht, Martin

    2013-08-27

    Mechanisms for generating checkpoints in a speculative versioning cache of a data processing system are provided. The mechanisms execute code within the data processing system, wherein the code accesses cache lines in the speculative versioning cache. The mechanisms further determine whether a first condition occurs indicating a need to generate a checkpoint in the speculative versioning cache. The checkpoint is a speculative cache line which is made non-speculative in response to a second condition occurring that requires a roll-back of changes to a cache line corresponding to the speculative cache line. The mechanisms also generate the checkpoint in the speculative versioning cache in response to a determination that the first condition has occurred.

  19. Laboratory Microcomputing

    PubMed Central

    York, William B.

    1984-01-01

    Microcomputers will play a major role in the laboratory, not only in the calculation and interpretation of clinical test data, but also will have an increasing place of importance in the management of laboratory resources in the face of the transition from revenue generating to the cost center era. We will give you a glimpse of what can be accomplished with the management data already collected by many laboratories today when the data are processed into meaningful reports.

  20. Laboratory Building

    SciTech Connect

    Herrera, Joshua M.

    2015-03-01

    This report is an analysis of the means of egress and life safety requirements for the laboratory building. The building is located at Sandia National Laboratories (SNL) in Albuquerque, NM. The report includes a prescriptive-based analysis as well as a performance-based analysis. Following the analysis are appendices which contain maps of the laboratory building used throughout the analysis. The top of all the maps is assumed to be north.

  1. Packet Daemon Version 12(SOPHIA)

    SciTech Connect

    2012-08-09

    Packet Daemon Version 12 is the code exclusively used by the ‘packetd’ executable. It provides packet data to the OglNet Version 12 visualization tool. It reads PCAP data and sends an abstraction of the packets to the ‘oglnet’ executable for display. ‘packetd’will run as a service on a Linux host thereby capturing data continuously and make that data available for ‘oglnet’ whenever it connects to the service.

  2. Glenoid spherical orientation and version.

    PubMed

    Lewis, Gregory S; Armstrong, April D

    2011-01-01

    Glenoid orientation likely plays an important role in shoulder mechanics and has been associated with glenohumeral instability, rotator cuff tears, and total shoulder arthroplasty outcome. Glenoid version and inclination measurements are widely used, but these measurements are 2-dimensional, and orientation of the central face must be inferred from 2 points on the outer rim. This study tested the hypothesis that sphere fitting provides an optimal assessment of glenoid face 3-dimensional orientation, and clinically important differences will exist in some individuals between sphere fit orientation and traditional version measurement. Computed tomography scans of 20 normal glenoids were obtained. Glenoid version was measured from resliced, pure transverse images at a series of glenoid heights. Separately, the 3-dimensional surface of each glenoid face was reconstructed. A sphere was fit to the glenoid face, and its orientation was described by 2 angles analogous to version and inclination. "Sphere fit version" averaged -3.2° ± 3.4° (negative indicating retroversion), and "sphere fit inclination" averaged 1.3° ± 4.7°. Absolute differences between sphere fit version and the standard mid-glenoid version averaged 1.5° (maximum 4.0°) across patients. The glenoids were, on average, 5.5° more retroverted at the 80% height than at the 20% height. Three-dimensional aspects of the glenoid, including the spiraling twist evidenced by increased retroversion superiorly, are accounted for in this novel sphere-fitting approach for assessing glenoid orientation. For most normal glenoids, midglenoid version appears to provide an adequate measure of glenoid central face orientation. Sphere fitting has potential utility in optimizing glenoid implant alignment in total shoulder arthroplasty. Published by Mosby, Inc.

  3. BIOSIMILARS AND NEW INSULIN VERSIONS.

    PubMed

    Peters, Anne L; Pollom, R Daniel; Zielonka, Jason S; Carey, Michelle A; Edelman, Steven V

    2015-12-01

    To provide clinicians with an overview of similar biologic products including biosimilars and new insulin versions available in the U.S. and of key issues associated with such products, including differences in manufacturing and regulatory approaches and their impact on clinical use. We reviewed the relevant clinical and regulatory literature. Patent protections for many biologics including several insulin preparations have or will expire shortly. This opens the door for new insulin versions to enter the U.S. and global marketplace. The development, manufacturing, and approval process for similar biologic products is more complex than for generic versions of small molecules. Most similar biologic products in the U.S. will be submitted for approval under section 351(k), a newly created biosimilar regulatory pathway. However, some biologics, including new insulin versions, will be submitted via the existing 505(b)(2) regulatory pathway. These regulatory pathways have implications for how such products may be labeled, how they may be dispensed, and how patients may perceive them. The immunogenicity of biologics can affect safety and efficacy and can be altered through subtle changes in manufacturing. With the arrival of new insulin versions, health care providers will need to understand the implications of interchangeability, therapeutic equivalence, substitution, switching, and new delivery devices. An understanding of the above topics will be important as physicians, payers, and patients choose between similar versions of a reference listed biologic product.

  4. Molecular genetics of the brown (b)-locus region of mouse chromosome 4. II. Complementation analyses of lethal brown deletions.

    PubMed

    Rinchik, E M

    1994-07-01

    Numerous new mutations at the brown (b) locus in mouse chromosome 4 have been recovered over the years in germ-cell mutagenesis experiments performed at the Oak Ridge National Laboratory. A large series of radiation- and chemical-induced b mutations known to be chromosomal deletions, and also known to be prenatally lethal when homozygous, were analyzed by pairwise complementation crosses as well as by pseudodominance tests involving flanking loci defined by externally visible phenotypes. These crosses were designed to determine the extent of each deletion on the genetic and phenotype map of the chromosomal region surrounding the b locus; the crosses also provided basic data that assigned deletions to complementation groups and defined four new loci associated with aberrancies in normal development. Specifically, the pseudodominance tests identified deletions that include the proximally mapping whirler (wi) and the distally mapping depilated (dep) genes, thereby bracketing these loci defined by visible developmental abnormalities with landmarks (deletion breakpoints) that are easily identified on the physical map. Furthermore, the complementation crosses, which were supplemented with additional crosses that allowed determination of the gross time of lethality of selected deletions, defined four new loci required for normal development. Homozygous deletion of one of these loci (b-associated fitness, baf) results in a runting syndrome evident during postnatal development; deletion of one locus [l(4)2Rn] causes death in the late gestation/neonatal period; and deletion of either of two loci [l(4)1Rn or l(4)3Rn] results in embryonic death, most likely in pre-, peri- or postimplantation stages. The placement of these new functionally defined loci on the evolving molecular map of the b region should be useful for continuing the analysis of the roles played in development by genes in this segment of chromosome 4.

  5. Safety analysis report for the TRUPACT-II shipping package (condensed version). Volume 1, Rev. 14

    SciTech Connect

    1994-10-01

    The condensed version of the TRUPACT-II Contact Handled Transuranic Waste Safety Analysis Report for Packaging (SARP) contains essential material required by TRUPACT-II users, plus additional contents (payload) information previously submitted to the U.S. Nuclear Regulatory Commission. All or part of the following sections, which are not required by users of the TRUPACT-II, are deleted from the condensed version: (i) structural analysis, (ii) thermal analysis, (iii) containment analysis, (iv) criticality analysis, (v) shielding analysis, and (vi) hypothetical accident test results.

  6. Deletions and candidate genes in Williams syndrome

    SciTech Connect

    Perez Jurado, L.A.; Peoples, R.; Francke, U.

    1994-09-01

    Hemizygosity at the elastin locus (ELN) on chromosome 7q11.23 has recently been reported in several familial and sporadic cases of the developmental disorder, Williams syndrome (WS). Because the deletion is greater than the span of the ELN gene, a contiguous gene deletion syndrome has been suggested as the probable molecular basis for this condition. Thus far, neither the size of the deletion(s), nor other genes within it are known. We have analyzed samples from 27 sporadic WS patients by genotyping two multiallelic ELN intragenic polymorphisms, detectable by PCR amplification, and by Southern blotting for ELN gene dosage. Twenty four patients were hemizygous at the ELN locus while 3 showed no deletion or detectable rearrangement. Genotype studies on parental DNA were informative in 12 of the deletions. All 12 were due to de novo events, 8 in the maternal and 4 in the paternal chromosome. In an attempt to identify genes involved in WS we are also using a candidate gene approach. Delayed clearance of an exogenous calcium load with normal or slightly increased calcitonin levels in serum has been documented in WS patients suggesting a defective calcitonin action or calcium sensing function. The calcitonin receptor (CTR) gene is, therefore, a good candidate since CTR has a dual role as a hormonal receptor for calcitonin and an extracellular calcium sensor. We have mapped the CTR gene to chromosome 7q21.1 by PCR-SSCA of somatic cell hybrids and FISH analysis. Using two color FISH with probes for ELN and CTR, both loci are located on 7q at a distance of {approximately}10 Mb, CTR being telomeric. Our CTR probe does not detect any genomic abnormality by FISH or Southern blot in the patients` samples analyzed. We have identified a diallelic polymorphism in the CTR cDNA and are currently testing the hypothesis of an impaired CTR expression as responsible for some of the clinical features of WS by analysing the CTR transcripts by RT-PCR.

  7. Genetics Home Reference: distal 18q deletion syndrome

    MedlinePlus

    ... B, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE. Consequences of chromsome18q deletions. Am ... Cody JD, Andrews T, Hardies LJ, Hale DE, Fox PT. Myelination in children with partial deletions of ...

  8. 49 CFR 7.6 - Deletion of identifying detail.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... necessary to prevent a clearly unwarranted invasion of personal privacy, identifying details will be deleted... withheld by another Federal statute, such information shall be deleted from any record covered by this...

  9. 49 CFR 7.6 - Deletion of identifying detail.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... necessary to prevent a clearly unwarranted invasion of personal privacy, identifying details will be deleted... withheld by another Federal statute, such information shall be deleted from any record covered by this...

  10. 49 CFR 7.6 - Deletion of identifying detail.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... necessary to prevent a clearly unwarranted invasion of personal privacy, identifying details will be deleted... withheld by another Federal statute, such information shall be deleted from any record covered by this...

  11. Duplication/deletion of chromosome 8p

    SciTech Connect

    Priest, J.H.

    1995-09-11

    The article by Guo et al. provides evidence for deletion of D8S596 loci (assigned to 8p23) in at least some patients with inverted duplications of 8p. Cytogenetic break points forming the inverted duplication are remarkably similar among most of their patients and those reported previously, suggesting a common mechanism for this interesting rearrangement. Why should similar breaks occur in 8p and why is a FISH signal absent in the distal short arm when the ONCOR digoxigenin-labeled probe for loci D8S596 is used? Other studies also indicate that duplication for the region 8p12-p22 is associated with a deletion distal to the duplication itself. 4 refs.

  12. 19 CFR 142.49 - Deletion of C-4 Code.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 19 Customs Duties 2 2013-04-01 2013-04-01 false Deletion of C-4 Code. 142.49 Section 142.49... TREASURY (CONTINUED) ENTRY PROCESS Line Release § 142.49 Deletion of C-4 Code. (a) By Customs. A port director may temporarily or permanently delete an entry filer's C-4 Code without providing the participant...

  13. Creating, Searching, and Deleting KD Trees Using C++

    DTIC Science & Technology

    2014-09-01

    Creating, Searching, and Deleting KD Trees Using C++ by Robert J Yager ARL-TN-0629 September 2014...Deleting KD Trees Using C++ by Robert J Yager Weapons and Materials Research Directorate, ARL...Searching, and Deleting KD Trees Using C++ 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Robert J Yager

  14. Investigation of NRXN1 deletions: clinical and molecular characterization.

    PubMed

    Dabell, Mindy Preston; Rosenfeld, Jill A; Bader, Patricia; Escobar, Luis F; El-Khechen, Dima; Vallee, Stephanie E; Dinulos, Mary Beth Palko; Curry, Cynthia; Fisher, Jamie; Tervo, Raymond; Hannibal, Mark C; Siefkas, Kiana; Wyatt, Philip R; Hughes, Lauren; Smith, Rosemarie; Ellingwood, Sara; Lacassie, Yves; Stroud, Tracy; Farrell, Sandra A; Sanchez-Lara, Pedro A; Randolph, Linda M; Niyazov, Dmitriy; Stevens, Cathy A; Schoonveld, Cheri; Skidmore, David; MacKay, Sara; Miles, Judith H; Moodley, Manikum; Huillet, Adam; Neill, Nicholas J; Ellison, Jay W; Ballif, Blake C; Shaffer, Lisa G

    2013-04-01

    Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. We have identified 34 probands with exonic NRXN1 deletions following referral for clinical microarray-based comparative genomic hybridization. To more firmly establish the full phenotypic spectrum associated with exonic NRXN1 deletions, we report the clinical features of 27 individuals with NRXN1 deletions, who represent 23 of these 34 families. The frequency of exonic NRXN1 deletions among our postnatally diagnosed patients (0.11%) is significantly higher than the frequency among reported controls (0.02%; P = 6.08 × 10(-7) ), supporting a role for these deletions in the development of abnormal phenotypes. Generally, most individuals with NRXN1 exonic deletions have developmental delay (particularly speech), abnormal behaviors, and mild dysmorphic features. In our cohort, autism spectrum disorders were diagnosed in 43% (10/23), and 16% (4/25) had epilepsy. The presence of NRXN1 deletions in normal parents and siblings suggests reduced penetrance and/or variable expressivity, which may be influenced by genetic, environmental, and/or stochastic factors. The pathogenicity of these deletions may also be affected by the location of the deletion within the gene. Counseling should appropriately represent this spectrum of possibilities when discussing recurrence risks or expectations for a child found to have a deletion in NRXN1. Copyright © 2013 Wiley Periodicals, Inc.

  15. Characterizing Deletion Transformations across Dialects using a Sophisticated Tying Mechanism

    DTIC Science & Technology

    2011-03-30

    suggest nrle candidates for further linguistic studies. Potential appli- cations include forensic phonetics, accent training, and dialect recognition...03-2011 Technical Paper MAR 2011 - APR 2011 Characterizing Deletion Transformations across Dialects using a Sophisticated Tying Mechanism FA8720-05...modeling deletion transformations between dialects . We empirically show that the proposed tying mechanism reduces deletion errors by 33% when compared to a

  16. Characterization of five partial deletions of the factor VIII gene

    SciTech Connect

    Youssoufian, H.; Antonarakis, S.E.; Aronis, S.; Tsiftis, G.; Phillips, D.G.; Kazazian, H.H. Jr.

    1987-06-01

    Hemophilia A is an X-linked disorder of coagulation caused by a deficiency of factor VIII. By using cloned DNA probes, the authors have characterized the following five different partial deletions of the factor VIII gene from a panel of 83 patients with hemophilia A: (i) a 7-kilobase (kb) deletion that eliminates exon 6; (ii) a 2.5-kb deletion that eliminates 5' sequences of exon 14; (iii) a deletion of at least 7 kb that eliminates exons 24 and 25; (iv) a deletion of at least 16 kb that eliminates exons 23-25; and (v) a 5.5-kb deletion that eliminates exon 22. The first four deletions are associated with severe hemophilia A. By contrast, the last deletion is associated with moderate disease, possibly because of in-frame splicing from adjacent exons. None of those patients with partial gene deletions had circulating inhibitors to factor VIII. One deletion occurred de novo in a germ cell of the maternal grandmother, while a second deletion occurred in a germ cell of the maternal grandfather. These observations demonstrate that de novo deletions of X-linked genes can occur in either male or female gametes.

  17. PCR detection of retinoblastoma gene deletions in radiation-induced mouse lung adenocarcinomas

    SciTech Connect

    Churchill, M.E.; Gemmell, M.A.; Woloschak, G.E.

    1993-04-01

    From 1971 to 1986, Argonne National Laboratory conducted a series of large-scale studies of tumor incidence in 40,000 BCF{sub 1} mice irradiated with {sup 60}Co {gamma} rays or JANUS fission-spectrum neutrons; normal and tumor tissues from mice in these studies were preserved in paraffin blocks. A polymerase chain reaction (PCR) technique has been developed to detect deletions in the mouse retinoblastoma (mRb) gene in the paraffin-embedded tissues. Microtomed sections were used as the DNA source in PCR reaction mixtures. Six mRb gene exon fragments were amplified in a 40-cycle, 3-temperature PCR protocol. The absence of any of these fragments (relative to control PCR products) on a Southern blot indicated a deletion of that portion of the mRb gene. The tumors chosen for analysis were lung adenocarcinomas that were judged to be the cause of death in post-mortem analyses. Spontaneous tumors as well as those from irradiated mice (569 cGy of {sup 60}Co {gamma} rays or 60 cGy of JANUS neutrons, doses that have been found to have approximately equal biological effectiveness in the BCF, mouse) were analyzed for mRb deletions. In all normal mouse tissues studies, all six mRb exon fragments were present on Southem blots. Tumors in six neutron-irradiated mice also had no mRb deletions. However, I of 6 tumors from {gamma}-irradiated mice and 6 of 18 spontaneous tumors from unirradiated mice had a deletion in one or both mRb alleles. All deletions detected were in the 5{prime} region of the mRb gene.

  18. PCR detection of retinoblastoma gene deletions in radiation-induced mouse lung adenocarcinomas

    SciTech Connect

    Churchill, M.E.; Gemmell, M.A.; Woloschak, G.E.

    1993-01-01

    From 1971 to 1986, Argonne National Laboratory conducted a series of large-scale studies of tumor incidence in 40,000 BCF[sub 1] mice irradiated with [sup 60]Co [gamma] rays or JANUS fission-spectrum neutrons; normal and tumor tissues from mice in these studies were preserved in paraffin blocks. A polymerase chain reaction (PCR) technique has been developed to detect deletions in the mouse retinoblastoma (mRb) gene in the paraffin-embedded tissues. Microtomed sections were used as the DNA source in PCR reaction mixtures. Six mRb gene exon fragments were amplified in a 40-cycle, 3-temperature PCR protocol. The absence of any of these fragments (relative to control PCR products) on a Southern blot indicated a deletion of that portion of the mRb gene. The tumors chosen for analysis were lung adenocarcinomas that were judged to be the cause of death in post-mortem analyses. Spontaneous tumors as well as those from irradiated mice (569 cGy of [sup 60]Co [gamma] rays or 60 cGy of JANUS neutrons, doses that have been found to have approximately equal biological effectiveness in the BCF, mouse) were analyzed for mRb deletions. In all normal mouse tissues studies, all six mRb exon fragments were present on Southem blots. Tumors in six neutron-irradiated mice also had no mRb deletions. However, I of 6 tumors from [gamma]-irradiated mice and 6 of 18 spontaneous tumors from unirradiated mice had a deletion in one or both mRb alleles. All deletions detected were in the 5[prime] region of the mRb gene.

  19. Chromosome 11q13 deletion syndrome

    PubMed Central

    Kim, Yu-Seon; Kim, Gun-Ha; Byeon, Jung Hye; Eun, So-Hee

    2016-01-01

    Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care. PMID:28018436

  20. Deletion Diagnostics for Alternating Logistic Regressions

    PubMed Central

    Preisser, John S.; By, Kunthel; Perin, Jamie; Qaqish, Bahjat F.

    2013-01-01

    Deletion diagnostics are introduced for the regression analysis of clustered binary outcomes estimated with alternating logistic regressions, an implementation of generalized estimating equations (GEE) that estimates regression coefficients in a marginal mean model and in a model for the intracluster association given by the log odds ratio. The diagnostics are developed within an estimating equations framework that recasts the estimating functions for association parameters based upon conditional residuals into equivalent functions based upon marginal residuals. Extensions of earlier work on GEE diagnostics follow directly, including computational formulae for one-step deletion diagnostics that measure the influence of a cluster of observations on the estimated regression parameters and on the overall marginal mean or association model fit. The diagnostic formulae are evaluated with simulations studies and with an application concerning an assessment of factors associated with health maintenance visits in primary care medical practices. The application and the simulations demonstrate that the proposed cluster-deletion diagnostics for alternating logistic regressions are good approximations of their exact fully iterated counterparts. PMID:22777960

  1. Immune function in patients with chromosome deletions.

    PubMed Central

    Nurmi, T; Uhari, M; Linna, S L; Silvennoinen-Kassinen, S; Koskela, M; Kiuttu, J; Tiilikainen, A

    1982-01-01

    Non-specific, cell-mediated and humoral immunity were evaluated in six patients with different autosomal deletions, and in two patients with X-chromosome deletions. Six had an increased number of bacterial, viral, and mycotic infections. Mild disturbances were found in the immunological functions of almost every patient. Granulocyte phagocytosis and killing of bacteria were normal in all patients. The chemotactic response was increased in two, and normal in the others. The responses to phytohaemagglutinin and pokeweed mitogen were normal in all patients and the response to concanavalin A was decreased in one patient. The lymphocyte response to purified protein derivative was decreased in the patients as a group when compared to the controls (P less than 0 . 005), but normal to oidiomycin. The number of acid-alpha-naphthyl acetate esterase positive cells was low in four patients. One had a high titre of antinuclear and antithyroid antibodies. One had a low concentration of serum IgA, C3 and C4. One had a high concentration of IgM. Two had elevated levels of C3 and C4. Our results show that several different chromosomal deletions are associated with immunological abnormality. PMID:6979446

  2. U-insertion/deletion Edited Sequence Database.

    PubMed

    Simpson, L; Wang, S H; Thiemann, O H; Alfonzo, J D; Maslov, D A; Avila, H A

    1998-01-01

    Uridine insertion/deletion RNA editing is a post-transcriptional RNA modification occurring in the mitochondria of kinetoplastid protozoa. The U-insertion/deletion Edited Sequence Database is a compilation of mitochondrial genes and edited mRNAs from five kinetoplastid species. It contains separate files with the DNA, mRNA (both unedited and edited) and predicted protein sequences, as well as alignments of the Leishmania tarentolae and Trypanosoma brucei protein sequences from edited and unedited genes. The sequence files are in GCG format. A 'map' sequence file showing the location of U-deletions, U-insertions and the translated amino acid sequences is also provided for each gene. Genomic maps for each species are also provided with clickable genes, including maxicircle-encoded gRNAs. Sets of aligned nuclear rRNA sequences from kinetoplastid protozoa are also provided, which were used for phylogenetic reconstructions in an analysis of the origin of RNA editing. The database is available through the World Wide Web as an HTML document at the URLhttp://www.lifesci.ucla.edu/RNA/trypanosome/ database.html

  3. Laboratory accreditation.

    PubMed

    Bradway, D E; Siegelman, F L

    1994-09-01

    An investigation of alleged data fraud at a pesticide analytical laboratory led EPA to take a closer look at the Good Laboratory Practice (GLP) inspection program. There was special focus on changes which might be made in the program to enhance the chances of detecting fraud in regulated studies. To this end, the Assistant Administrator of the Office of Prevention, Pesticides and Toxic Substances (OPPTS) requested EPA's Office of Inspector General (OIG) to examine the GLP program. Several reports were issued by the OIG, including the recommendation that a laboratory accreditation program be adopted. EPA has been examining ways to implement the OIG's recommendations, including (1) laboratory accreditation consisting of three components: document submission and assessment, site visit and assessment, and proficiency assessment; and (2) mandatory registration of all facilities participating in GLP-regulated studies, based on document submission and assessment. These two alternatives are compared, and the advantages and disadvantages of each are discussed.

  4. EPDL97: the evaluated photo data library `97 version

    SciTech Connect

    Cullen, D.E.; Hubbell, J.H.; Kissel, L.

    1997-09-19

    The Evaluated Photon Data Library, 1997 version (EPLD97), is designed for use in photon transport calculations at Lawrence Livermore National Laboratory. This library includes photon interaction data for all elements with atomic number between Z = 1 (hydrogne) and 100 (fermium), including: photoionization, photoexcitation, coherent and incoherent scattering, and pair and triplet porduction cross sections. For use in applications data is provided for all elements over the energy range 1 eV to 100 GeV. This report documents the sources and treatment of the data included inthis library. EPDL97 completely supersedes the earlier 1989 version of EPDL and it is highly recommended that useres only use the most recent version of this library.

  5. Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.

    PubMed

    Wu, Y Q; Heilstedt, H A; Bedell, J A; May, K M; Starkey, D E; McPherson, J D; Shapira, S K; Shaffer, L G

    1999-02-01

    The deletion of chromosome 1p36 is a newly recognized, relatively common contiguous gene deletion syndrome with a variable phenotype. The clinical features have recently been delineated and molecular analysis indicates that the prevalence of certain phenotypic features appears to correlate with deletion size. Phenotype/genotype comparisons have allowed the assignment of certain clinical features to specific deletion intervals, significantly narrowing the regions within which to search for candidate genes. We have extensively characterized the deletion regions in 30 cases using microsatellite markers and fluorescence in situ hybridization analyses. The map order of 28 microsatellite markers spanning the deletion region was obtained by a combination of genotypic analysis and physical mapping. The deletion region was divided into six intervals and breakpoints were found to cluster in mainly two regions. Molecular analysis of the deletions showed that two patients had complex re-arrangements; these cases shared their distal and proximal breakpoints in the two common breakpoint regions. Of the de novo deletions ( n = 28) in whichparental samples were available and the analysis was informative ( n = 27), there were significantly morematernally derived deletions ( n = 21) than paternally derived deletions ( n = 6) (chi1(2) = 8.35, P < 0.0001). Phenotype/genotype correlations and refinements of critical regions in our naturally occurring deletion panel have delineated specific areas in which to focus the search for the causative genes for the features of this syndrome.

  6. Deletion of pyruvate decarboxylase by a new method for efficient markerless gene deletions in Gluconobacter oxydans.

    PubMed

    Peters, Björn; Junker, Anja; Brauer, Katharina; Mühlthaler, Bernadette; Kostner, David; Mientus, Markus; Liebl, Wolfgang; Ehrenreich, Armin

    2013-03-01

    Gluconobacter oxydans, a biotechnologically relevant species which incompletely oxidizes a large variety of carbohydrates, alcohols, and related compounds, contains a gene for pyruvate decarboxylase (PDC). This enzyme is found only in very few species of bacteria where it is normally involved in anaerobic ethanol formation via acetaldehyde. In order to clarify the role of PDC in the strictly oxidative metabolism of acetic acid bacteria, we developed a markerless in-frame deletion system for strain G. oxydans 621H which uses 5-fluorouracil together with a plasmid-encoded uracil phosphoribosyltransferase as counter selection method and used this technique to delete the PDC gene (GOX1081) of G. oxydans 621H. The PDC deletion mutant accumulated large amounts of pyruvate but almost no acetate during growth on D-mannitol, D-fructose or in the presence of L-lactate. This suggested that in G. oxydans acetate formation occurs by decarboxylation of pyruvate and subsequent oxidation of acetaldehyde to acetate. This observation and the efficiency of the markerless deletion system were confirmed by constructing deletion mutants of two acetaldehyde dehydrogenases (GOX1122 and GOX2018) and of the acetyl-CoA-synthetase (GOX0412). Acetate formation during growth of these mutants on mannitol did not differ significantly from the wild-type strain.

  7. Specific sequence deletions in two classes of murine leukemia virus-related proviruses in the mouse genome.

    PubMed

    Ch'ang, L Y; Yang, W K; Myer, F E; Koh, C K; Boone, L R

    1989-02-01

    Characteristic long terminal repeats (LTR) of approximately 700 and 750 bp were found, respectively, in the two classes (polytropic and modified polytropic) of murine leukemia virus (MuLV)-related nonecotropic nonxenotropic proviral sequences in eight individual molecular clones of RFM/Un mouse chromosomal DNA fragments. Three proviral clones, two polytropic and one modified polytropic, contained sequence deletions in the viral structural genes. Nucleotide sequence analysis revealed that 7-bp direct repeats occur at both ends of deleted sequences in intact structures and one of the repeats remains in genomes with the deletion. Specifically, the deleted sequences were a 1487-bp gag-pol sequence with ACTGCCC repeat, a 113-bp mid-pol sequence with CAGGCAA repeat, and a 1811-bp env sequence with GGTCCAG repeat. The same specific sequence deletions were found in both classes of MuLV-related proviral structures. Examination of chromosomal DNA from eight inbred laboratory mouse strains and six wild mouse species showed that a minor population of proviruses with these specific deletions were present in Mus musculus and Mus spretus, all of which contain prominent 700-bp LTR polytropic proviral structures. The 750-bp LTR modified polytropic proviral structures were phylogenetically more restricted, being equally predominant in Mus musculus domesticus mice, but minor to undetectable in Mus spretus subspecies, and absent in other wild mouse populations.

  8. Gap-PCR Screening for Common Large Deletional Mutations of β-Globin Gene Cluster Revealed a Higher Prevalence of the Turkish Inversion/Deletion (δβ)0 Mutation in Antalya

    PubMed Central

    Bilgen, Türker; Altıok Clark, Özden; Öztürk, Zeynep; Yeşilipek, M. Akif; Keser, İbrahim

    2016-01-01

    Objective: Although the calculated carrier frequency for point mutations of the β-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the β-globin gene. In this study, we aimed to screen common deletional mutations in the β-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation(s) responsible for the disease phenotype. Materials and Methods: Thirty-one index cases selected with a series of selection events among 60 cases without detected β-globin gene mutation from 580 thalassemia-related cases tested by direct sequencing over the last 4 years in our diagnostic center were screened for the most common 8 different large deletional mutations of the β-globin gene cluster by gap-PCR. Results: We detected 1 homozygous and 9 heterozygous novel unrelated cases for the Turkish inversion/deletion (δβ)0 mutation in our series of 31 cases. Our study showed that the Turkish inversion/deletion (δβ)0 mutation per se accounts for 16.6% of the unidentified causative alleles and also accounts for 1.5% of all detected mutations over the last 4 years in our laboratory. Conclusion: Since molecular diagnosis of deletional mutations in the β-globin gene cluster warrants different approaches, it deserves special attention in order to provide prenatal diagnosis and prevention opportunities to the families involved. We conclude that the Turkish inversion/deletion (δβ)0, as the most prevalent deletional mutation detected so far, has to be routinely tested for in Antalya, and the gap-PCR approach has valuable diagnostic potential in the patients at risk. PMID:26377447

  9. Phenotypic characterization of rare interstitial deletion of chromosome 4

    PubMed Central

    Ismail, Samira; Helmy, Nivine A.; Mahmoud, Wael M.; El-Ruby, Mona O.

    2012-01-01

    Interstitial deletion of the long arm of chromosome 4 is rare. Patients with interstitial deletion of the long arm of chromosome 4 differ from those with terminal deletions. Phenotypes may be variable, depending upon the specific length and location of the deleted portion. Here, we report on a boy exhibiting most of the congenital malformations encountered in terminal 4q syndrome. The conventional karyotyping and Fluorescence in-situ hybridization revealed a de novo interstitial del (4)(q31q32). The current report is a further document highlighting that deletion of segment q31 could be contributing to the expression of most of the phenotype of 4q deletion syndrome. Using array comparative genome hybridization methodology is recommended for investigating further cases with similar segmental interstitial deletions to support and delineate findings and to define genes implicated in the pathogenesis of the disorder. PMID:27625821

  10. [Software version and medical device software supervision].

    PubMed

    Peng, Liang; Liu, Xiaoyan

    2015-01-01

    The importance of software version in the medical device software supervision does not cause enough attention at present. First of all, the effect of software version in the medical device software supervision is discussed, and then the necessity of software version in the medical device software supervision is analyzed based on the discussion of the misunderstanding of software version. Finally the concrete suggestions on software version naming rules, software version supervision for the software in medical devices, and software version supervision scheme are proposed.

  11. Deletion of host histone acetyltransferases and deacetylases strongly affects Agrobacterium-mediated transformation of Saccharomyces cerevisiae.

    PubMed

    Soltani, Jalal; van Heusden, Gerard Paul H; Hooykaas, Paul J J

    2009-09-01

    Agrobacterium tumefaciens is a plant pathogen that genetically transforms plant cells by transferring a part of its Ti-plasmid, the T-strand, to the host cell. Under laboratory conditions, it can also transform cells from many different nonplant organisms, including the yeast Saccharomyces cerevisiae. Collections of S. cerevisiae strains have been developed with systematic deletion of all coding sequences. Here, we used these collections to identify genes involved in the Agrobacterium-mediated transformation (AMT) of S. cerevisiae. We found that deletion of genes (GCN5, NGG1, YAF9 and EAF7) encoding subunits of the SAGA, SLIK, ADA and NuA4 histone acetyltransferase complexes highly increased the efficiency of AMT, while deletion of genes (HDA2, HDA3 and HST4) encoding subunits of histone deacetylase complexes decreased AMT. These effects are specific for AMT as the efficiency of chemical (lithium acetate) transformation was not or only slightly affected by these deletions. Our data are consistent with a positive role of host histone deacetylation in AMT.

  12. Deletions in the KTER-encoding domain, which is needed for Polymyxa transmission, in manually transmitted isolates of Beet necrotic yellow vein benyvirus.

    PubMed

    Koenig, R

    2000-01-01

    One A and one B type isolate of Beet necrotic yellow vein benyvirus which had been passaged for more than 15 years on manually inoculated Chenopodium quinoa in our laboratory were found to have small deletions in the KTER-encoding domain on RNA 2 which is necessary for Polymyxa transmission. There were no indications that these isolates and a third one, in which intact RNA 2 was detected, contained mixtures of deleted and intact RNAs or that populations of RNAs 2 with different deletions including very large ones were present.

  13. ALSSAT Version 6.0

    NASA Technical Reports Server (NTRS)

    Yeh, Hue-Hsia; Brown, Cheryl; Jeng, Frank

    2012-01-01

    Advanced Life Support Sizing Analysis Tool (ALSSAT) at the time of this reporting has been updated to version 6.0. A previous version was described in Tool for Sizing Analysis of the Advanced Life Support System (MSC- 23506), NASA Tech Briefs, Vol. 29, No. 12 (December 2005), page 43. To recapitulate: ALSSAT is a computer program for sizing and analyzing designs of environmental-control and life-support systems for spacecraft and surface habitats to be involved in exploration of Mars and the Moon. Of particular interest for analysis by ALSSAT are conceptual designs of advanced life-support (ALS) subsystems that utilize physicochemical and biological processes to recycle air and water and process human wastes to reduce the need of resource resupply. ALSSAT is a means of investigating combinations of such subsystems technologies featuring various alternative conceptual designs and thereby assisting in determining which combination is most cost-effective. ALSSAT version 6.0 has been improved over previous versions in several respects, including the following additions: an interface for reading sizing data from an ALS database, computational models of a redundant regenerative CO2 and Moisture Removal Amine Swing Beds (CAMRAS) for CO2 removal, upgrade of the Temperature & Humidity Control's Common Cabin Air Assembly to a detailed sizing model, and upgrade of the Food-management subsystem.

  14. Montage Version 3.0

    NASA Technical Reports Server (NTRS)

    Jacob, Joseph; Katz, Daniel; Prince, Thomas; Berriman, Graham; Good, John; Laity, Anastasia

    2006-01-01

    The final version (3.0) of the Montage software has been released. To recapitulate from previous NASA Tech Briefs articles about Montage: This software generates custom, science-grade mosaics of astronomical images on demand from input files that comply with the Flexible Image Transport System (FITS) standard and contain image data registered on projections that comply with the World Coordinate System (WCS) standards. This software can be executed on single-processor computers, multi-processor computers, and such networks of geographically dispersed computers as the National Science Foundation s TeraGrid or NASA s Information Power Grid. The primary advantage of running Montage in a grid environment is that computations can be done on a remote supercomputer for efficiency. Multiple computers at different sites can be used for different parts of a computation a significant advantage in cases of computations for large mosaics that demand more processor time than is available at any one site. Version 3.0 incorporates several improvements over prior versions. The most significant improvement is that this version is accessible to scientists located anywhere, through operational Web services that provide access to data from several large astronomical surveys and construct mosaics on either local workstations or remote computational grids as needed.

  15. SophiNet Version 12

    SciTech Connect

    2012-08-09

    SophiNet Version 12 is part of the code contained in the application ‘oglnet’ and comprises the portions that make ‘oglnet’ receive and display Sophia data from the Sophia Daemon ‘sophiad’. Specifically this encompasses the channel, host and alert receiving and the treeview HUD widget.

  16. DOBIS: The Canadian Government Version.

    ERIC Educational Resources Information Center

    Newman, William L.; And Others

    1979-01-01

    Presents background information on DOBIS (an online library system) evaluation, software acquisition, and development, and describes the status and plans for DOBIS in the Canadian government. Appendices provide an overview of the Canadian government version of the system from a librarian's and a systems analyst's perspective. (CWM)

  17. CCAIN, Version 1.0

    SciTech Connect

    Rickett, Christopher D.; Rasmussen, Craig E.; Sottile, Matthew J.

    2005-05-26

    CCAIN, Version 1.0 Date: 06/15/2005 This software is an instantiation of Common Component Architecture (CCA) framework written in C. The framework is used to compose (create, register, destroy) C, C++, and Fortran components into a running CCA application. Language bindings are provided for F90 and F03 to allow codes in these languages to interface with the framework.

  18. Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

    SciTech Connect

    Lindsay, E.A.; Shaffer, L.G.; Greenberg, F.

    1995-03-27

    DiGeorge anomaly (DGA) and velo-cardio-facial syndrome (VCFS) are frequently associated with monosomy of chromosome region 22q11. Most patients have a submicroscopic deletion, recently estimated to be at least 1-2 Mb. It is not clear whether individuals who present with only some of the features of these conditions have the deletion, and if so, whether the size of the deletion varies from those with more classic phenotypes. We have used fluorescence in situ hybridization (FISH) to assess the deletion status of 85 individuals referred to us for molecular analysis, with a wide range of DGA-like or VCFS-like clinical features. The test probe used was the cosmid sc11.1, which detects two loci about 2 Mb apart in 22q11.2. Twenty-four patients carried the deletion. Of the deleted patients, most had classic DGA or VCFS phenotypes, but 6 deleted patients had mild phenotypes, including 2 with minor facial anomalies and velopharyngeal incompetence as the only presenting signs. Despite the great phenotypic variability among the deleted patients, none had a deletion smaller than the 2-Mb region defined by sc11.1. Smaller deletions were not detected in patients with particularly suggestive phenotypes who were not deleted for sc11.1, even when tested with two other probes from the DGA/VCFS region. 24 refs., 2 figs., 2 tabs.

  19. A Hindi version of the Composite Scale of Morningness

    PubMed Central

    Bhatia, Triptish; Agrawal, Akhilesh; Beniwal, R.P.; Thomas, Pramod; Monk, Timothy H.; Nimgaonkar, V.L.; Deshpande, Smita N.

    2014-01-01

    Background Several pen and paper measures of human circadian preference are available in English, but none are available in Hindi, hampering research in circadian behavior among Hindi speaking populations in India and elsewhere. The present study describes a Hindi version of the Composite Scale of Morningness (CSM), a self reported questionnaire widely used to assess morningness/eveningness (M/E). M/E has been used a proxy for circadian phase in lieu of cumbersome and expensive laboratory studies. Method The thirteen item English version of the CSM was translated into Hindi and independently back translated into English. Inconsistencies between the original and back translated versions were then resolved. Both versions were next administered to bilingual persons at Delhi, India (N = 130). After intra-class correlations between the Hindi and the English versions were examined, the Hindi version was administered to community based participants representing different age groups (N = 310). Results There was satisfactory intra-class correlation (ICC) between the total scores for the Hindi and the English versions of the CSM (Cronbach’s alpha = 0.873), with variation for individual items scores. Total CSM scores in the second sample suggested a significant association with age, consistent with published reports with the English CSM, i.e., morningness tendencies were more likely to be reported by older adults. Significant associations with gender or educational status were not observed. Conclusions The Hindi CSM is a brief questionnaire that provides behavioral measures of diurnal preference. It is freely available for research in Hindi speaking populations. PMID:24309877

  20. A Hindi version of the Composite Scale of Morningness.

    PubMed

    Bhatia, Triptish; Agrawal, Akhilesh; Beniwal, Ram Pratap; Thomas, Pramod; Monk, Timothy H; Nimgaonkar, Vishwajit L; Deshpande, Smita N

    2013-12-01

    Several pen and paper measures of human circadian preference are available in English, but none are available in Hindi, hampering research in circadian behavior among Hindi speaking populations in India and elsewhere. The present study describes a Hindi version of the Composite Scale of Morningness (CSM), a self-reported questionnaire widely used to assess morningness/eveningness (M/E). M/E has been used a proxy for circadian phase in lieu of cumbersome and expensive laboratory studies. The thirteen item English version of the CSM was translated into Hindi and independently back translated into English. Inconsistencies between the original and back translated versions were then resolved. Both versions were next administered to bilingual persons at Delhi, India (N=130). After intra-class correlations between the Hindi and the English versions were examined, the Hindi version was administered to community based participants representing different age groups (N=310). There was satisfactory intra-class correlation (ICC) between the total scores for the Hindi and the English versions of the CSM (Cronbach's alpha=0.873), with variation for individual items scores. Total CSM scores in the second sample suggested a significant association with age, consistent with published reports with the English CSM, i.e., morningness tendencies were more likely to be reported by older adults. Significant associations with gender or educational status were not observed. The Hindi CSM is a brief questionnaire that provides behavioral measures of diurnal preference. It is freely available for research in Hindi speaking populations. Copyright © 2013 Elsevier B.V. All rights reserved.

  1. Targeted gene deletion in Zygosaccharomyces bailii.

    PubMed

    Mollapour, M; Piper, P

    2001-01-30

    Yeasts of the genus Zygosaccharomyces are notable agents of large-scale food spoilage. Despite the economic importance of these organisms, little is known about the stress adaptations whereby they adapt to many of the more severe conditions of food preservation. In this study it was shown that genes of Z. bailii, a yeast notable for its high resistances to food preservatives and ethanol, can be isolated by complementation of the corresponding mutant strains of Saccharomyces cerevisiae. It was also discovered that the acquisition by S. cerevisiae of a single small Z. bailii gene (ZbYME2) was sufficient for the former yeast to acquire the ability to degrade two major food preservatives, benzoic acid and sorbic acid. Using DNA cassettes containing dominant selectable markers and methods originally developed for performing gene deletions in S. cerevisiae, the two copies of ZbYME2 in the Z. bailii genome were sequentially deleted. The resulting Zbyme2/Zbyme2 homozygous deletant strain had lost any ability to utilize benzoate as sole carbon source and was more sensitive to weak acid preservatives during growth on glucose. Thus, ZbYME2, probably the nuclear gene for a mitochondrial mono-oxygenase function, is essential for Z. bailii to degrade food preservatives. This ability to catabolize weak acid preservatives is a significant factor contributing to the preservative resistance of Z. bailii under aerobic conditions. This study is the first to demonstrate that it is possible to delete in Z. bailii genes that are suspected as being important for growth of this organism in preserved foods and beverages. With the construction of further mutant of Z. bailii strains, a clearer picture should emerge of how this yeast adapts to the conditions of food preservation. This information will, in turn, allow the design of new preservation strategies. GenBank Accession Nos: ZbURA3 (AF279259), ZbTIM9 (AF279260), ZbYME2 (AF279261), ZbTRP1 (AF279262), ZbHHT1(AF296170).

  2. Writing and deleting single magnetic skyrmions.

    PubMed

    Romming, Niklas; Hanneken, Christian; Menzel, Matthias; Bickel, Jessica E; Wolter, Boris; von Bergmann, Kirsten; Kubetzka, André; Wiesendanger, Roland

    2013-08-09

    Topologically nontrivial spin textures have recently been investigated for spintronic applications. Here, we report on an ultrathin magnetic film in which individual skyrmions can be written and deleted in a controlled fashion with local spin-polarized currents from a scanning tunneling microscope. An external magnetic field is used to tune the energy landscape, and the temperature is adjusted to prevent thermally activated switching between topologically distinct states. Switching rate and direction can then be controlled by the parameters used for current injection. The creation and annihilation of individual magnetic skyrmions demonstrates the potential for topological charge in future information-storage concepts.

  3. Presence of Large Deletions in Kindreds with Autism

    PubMed Central

    Yu, Chang-En; Dawson, Geraldine; Munson, Jeffrey; D’Souza, Ian; Osterling, Julie; Estes, Annette; Leutenegger, Anne-Louise; Flodman, Pamela; Smith, Moyra; Raskind, Wendy H.; Spence, M. Anne; McMahon, William; Wijsman, Ellen M.; Schellenberg, Gerard D.

    2002-01-01

    Autism is caused, in part, by inheritance of multiple interacting susceptibility alleles. To identify these inherited factors, linkage analysis of multiplex families is being performed on a sample of 105 families with two or more affected sibs. Segregation patterns of short tandem repeat polymorphic markers from four chromosomes revealed null alleles at four marker sites in 12 families that were the result of deletions ranging in size from 5 to >260 kb. In one family, a deletion at marker D7S630 was complex, with two segments deleted (37 kb and 18 kb) and two retained (2,836 bp and 38 bp). Three families had deletions at D7S517, with each family having a different deletion (96 kb, 183 kb, and >69 kb). Another three families had deletions at D8S264, again with each family having a different deletion, ranging in size from <5.9 kb to >260 kb. At a fourth marker, D8S272, a 192-kb deletion was found in five families. Unrelated subjects and additional families without autism were screened for deletions at these four sites. Families screened included 40 families from Centre d'Etude du Polymorphisme Humaine and 28 families affected with learning disabilities. Unrelated samples were 299 elderly control subjects, 121 younger control subjects, and 248 subjects with Alzheimer disease. The deletion allele at D8S272 was found in all populations screened. For the other three sites, no additional deletions were identified in any of the groups without autism. Thus, these deletions appear to be specific to autism kindreds and are potential autism-susceptibility alleles. An alternative hypothesis is that autism-susceptibility alleles elsewhere cause the deletions detected here, possibly by inducing errors during meiosis. PMID:12058345

  4. AZF deletions in infertile men from the Republic of Macedonia.

    PubMed

    Plaseski, Toso; Novevski, Predrag; Kocevska, Borka; Dimitrovski, Cedomir; Efremov, Georgi D; Plaseska-Karanfilska, Dijana

    2006-07-01

    Y chromosome deletions in the three azoospermia factor (AZF) regions constitute the most common genetic cause of spermatogenic failure. The aim of this study was to estimate the length and boundaries of the AZF deletions and to correlate the AZF deletions with the sperm concentrations, testicular histology, Y haplogroups and the ethnic origin of the men with deletions. PCR analysis of STS loci in the three AZF regions was used to characterize the deletions. Y haplogroup was predicted from a set of 17 Y short tandem repeats (STR) marker values. A total of nine men out of 218 infertile/subfertile men showed the presence of Y microdeletions. In eight patients the results were consistent with the presence of AZFc deletions, while in one patient a larger deletion involving both AZFb and AZFc regions was detected. In two patients, the deletion, initially diagnosed as AZFc, involved part of the distal part of the AZFb region and in one of them the deletion also extended into the region distal to the AZFc. The 3.5 Mb AZFc deletion, due to homologous recombination between b2 and b4 amplicons, was detected in six men (66.7% of all Y deletions), thus being the most common type of AZF deletion among infertile men from the Republic of Macedonia. Patients with the 3.5 Mb AZFc deletion had azoospermia or severe oligozoospermia and variable histological results [Sertoly cell only syndrome (SCOS), maturity arrest (MA) and hypospermatogenesis (HSG)]. They were of different ethnic origin (Macedonian, Albanian and Romany) and belonged to different Y haplogroups (I1b, J2, E3b and G).

  5. Deletion of ultraconserved elements yields viable mice

    SciTech Connect

    Ahituv, Nadav; Zhu, Yiwen; Visel, Axel; Holt, Amy; Afzal, Veena; Pennacchio, Len A.; Rubin, Edward M.

    2007-07-15

    Ultraconserved elements have been suggested to retainextended perfect sequence identity between the human, mouse, and ratgenomes due to essential functional properties. To investigate thenecessities of these elements in vivo, we removed four non-codingultraconserved elements (ranging in length from 222 to 731 base pairs)from the mouse genome. To maximize the likelihood of observing aphenotype, we chose to delete elements that function as enhancers in amouse transgenic assay and that are near genes that exhibit markedphenotypes both when completely inactivated in the mouse as well as whentheir expression is altered due to other genomic modifications.Remarkably, all four resulting lines of mice lacking these ultraconservedelements were viable and fertile, and failed to reveal any criticalabnormalities when assayed for a variety of phenotypes including growth,longevity, pathology and metabolism. In addition more targeted screens,informed by the abnormalities observed in mice where genes in proximityto the investigated elements had been altered, also failed to revealnotable abnormalities. These results, while not inclusive of all thepossible phenotypic impact of the deleted sequences, indicate thatextreme sequence constraint does not necessarily reflect crucialfunctions required for viability.

  6. Method for introducing unidirectional nested deletions

    DOEpatents

    Dunn, John J.; Quesada, Mark A.; Randesi, Matthew

    1999-07-27

    Disclosed is a method for the introduction of unidirectional deletions in a cloned DNA segment. More specifically, the method comprises providing a recombinant DNA construct comprising a DNA segment of interest inserted in a cloning vector, the cloning vector having an f1 endonuclease recognition sequence adjacent to the insertion site of the DNA segment of interest. The recombinant DNA construct is then contacted with the protein pII encoded by gene II of phage f1 thereby generating a single-stranded nick. The nicked DNA is then contacted with E. coli Exonuclease III thereby expanding the single-stranded nick into a single-stranded gap. The single-stranded gapped DNA is then contacted with a single-strand-specific endonuclease thereby producing a linearized DNA molecule containing a double-stranded deletion corresponding in size to the single-stranded gap. The DNA treated in this manner is then incubated with DNA ligase under conditions appropriate for ligation. Also disclosed is a method for producing single-stranded DNA probes. In this embodiment, single-stranded gapped DNA, produced as described above, is contacted with a DNA polymerase in the presence of labeled nucleotides to fill in the gap. This DNA is then linearized by digestion with a restriction enzyme which cuts outside the DNA segment of interest. The product of this digestion is then denatured to produce a labeled single-stranded nucleic acid probe.

  7. Method for introducing unidirectional nested deletions

    DOEpatents

    Dunn, J.J.; Quesada, M.A.; Randesi, M.

    1999-07-27

    Disclosed is a method for the introduction of unidirectional deletions in a cloned DNA segment. More specifically, the method comprises providing a recombinant DNA construct comprising a DNA segment of interest inserted in a cloning vector. The cloning vector has an f1 endonuclease recognition sequence adjacent to the insertion site of the DNA segment of interest. The recombinant DNA construct is then contacted with the protein pII encoded by gene II of phage f1 thereby generating a single-stranded nick. The nicked DNA is then contacted with E. coli Exonuclease III thereby expanding the single-stranded nick into a single-stranded gap. The single-stranded gapped DNA is then contacted with a single-strand-specific endonuclease thereby producing a linearized DNA molecule containing a double-stranded deletion corresponding in size to the single-stranded gap. The DNA treated in this manner is then incubated with DNA ligase under conditions appropriate for ligation. Also disclosed is a method for producing single-stranded DNA probes. In this embodiment, single-stranded gapped DNA, produced as described above, is contacted with a DNA polymerase in the presence of labeled nucleotides to fill in the gap. This DNA is then linearized by digestion with a restriction enzyme which cuts outside the DNA segment of interest. The product of this digestion is then denatured to produce a labeled single-stranded nucleic acid probe. 1 fig.

  8. Laboratory diagnosis

    USDA-ARS?s Scientific Manuscript database

    One of the first major goals of the microbiology laboratory is to isolate or detect clinically significant microorganisms from an affected site and, if more than one type of microorganism is present, to isolate them in approximately the same ratio as occurs in vivo. Whether an isolate is “clinically...

  9. Language Laboratories.

    ERIC Educational Resources Information Center

    Department of Education and Science, London (England).

    An educational survey of British language teachers concerning the use of the language laboratory focuses primarily on function, facilities, and performance specifications. Read in conjunction with two other reports published by the Ministry of Technology, this study is meant to help teachers, architects, and administrators develop language…

  10. Whole genome HBV deletion profiles and the accumulation of preS deletion mutant during antiviral treatment

    PubMed Central

    2012-01-01

    Background Hepatitis B virus (HBV), because of its error-prone viral polymerase, has a high mutation rate leading to widespread substitutions, deletions, and insertions in the HBV genome. Deletions may significantly change viral biological features complicating the progression of liver diseases. However, the clinical conditions correlating to the accumulation of deleted mutants remain unclear. In this study, we explored HBV deletion patterns and their association with disease status and antiviral treatment by performing whole genome sequencing on samples from 51 hepatitis B patients and by monitoring changes in deletion variants during treatment. Clone sequencing was used to analyze preS regions in another cohort of 52 patients. Results Among the core, preS, and basic core promoter (BCP) deletion hotspots, we identified preS to have the highest frequency and the most complex deletion pattern using whole genome sequencing. Further clone sequencing analysis on preS identified 70 deletions which were classified into 4 types, the most common being preS2. Also, in contrast to the core and BCP regions, most preS deletions were in-frame. Most deletions interrupted viral surface epitopes, and are possibly involved in evading immuno-surveillance. Among various clinical factors examined, logistic regression showed that antiviral medication affected the accumulation of deletion mutants (OR = 6.81, 95% CI = 1.296 ~ 35.817, P = 0.023). In chronic carriers of the virus, and individuals with chronic hepatitis, the deletion rate was significantly higher in the antiviral treatment group (Fisher exact test, P = 0.007). Particularly, preS2 deletions were associated with the usage of nucleos(t)ide analog therapy (Fisher exact test, P = 0.023). Dynamic increases in preS1 or preS2 deletions were also observed in quasispecies from samples taken from patients before and after three months of ADV therapy. In vitro experiments demonstrated that preS2 deletions alone

  11. Autogen Version 2.0

    NASA Technical Reports Server (NTRS)

    Gladden, Roy

    2007-01-01

    Version 2.0 of the autogen software has been released. "Autogen" (automated sequence generation) signifies both a process and software used to implement the process of automated generation of sequences of commands in a standard format for uplink to spacecraft. Autogen requires fewer workers than are needed for older manual sequence-generation processes and reduces sequence-generation times from weeks to minutes.

  12. Biocellion Version 2.0

    SciTech Connect

    Seunghwa Kang, PNNL

    2015-01-09

    This work extends Biocellion 1.0 to solve advection-reaction-diffusion and incompressible Navier-Stokes partial differential equations to model water/blood flow. Biocellion is a software framework to simulate a large number of cells using high-performance parallel computers. The version 1.0 allows software users to describe biological system behaviors as a set of rules describing how individual cells behave and how cells locally interact with neighboring cells or the surrounding micro-environment. However, the version 1.0 does not support users to incorporate water/blood flow into the model, which is important to properly capture long distance communications between distant cells. This extension (version 2.0) integrates two partial differential equation solvers to the Biocellion framework to solve this limitation. Navier-Stokes equation solvers (for incompressible flow) are added to compute flow rate, and advection-reaction-diffusion equation solvers are added to update molecular concentrations considering both advection (due to flow) and local diffusion.

  13. Are there ethnic differences in deletions in the dystrophin gene?

    SciTech Connect

    Banerjee, M.; Verma, I.C.

    1997-01-20

    We studied 160 cases of Duchenne muscular dystrophy (DMD) drawn from all parts of India, using multiplex PCR of 27 exons. Of these, 103 (64.4%) showed intragenic deletions. Most (69.7%) of the deletions involved exons 45-51. The phenotype of cases with deletion of single exons did not differ significantly from those with deletion of multiple exons. The distribution of deletions in studies from different countries was variable, but this was accounted for either by the small number of cases studied, or by fewer exons analyzed. It is concluded that there is likely to be no ethnic difference with respect to deletions in the DMD gene. 38 refs., 2 figs., 3 tabs.

  14. Genomic deletions suggest a phylogeny for the Mycobacterium tuberculosis complex.

    PubMed

    Mostowy, Serge; Cousins, Debby; Brinkman, Jacqui; Aranaz, Alicia; Behr, Marcel A

    2002-07-01

    To better understand the evolution of the Mycobacterium tuberculosis complex, subspecies were tested for large sequence polymorphisms. Samples with greater numbers of deletions, without exception, were missing all the same regions that were deleted from samples with lesser numbers of deletions. Principal genetic groups based on single-nucleotide polymorphisms were restricted to one of the deletion-based groups, and isolates that shared genotypes based on molecular epidemiological markers were assigned almost exclusively to the same deletion type. The data provide compelling evidence that human tuberculosis did not originate from the present-day bovine form. Genomic deletions present themselves as an attractive modality to study the evolution of the M. tuberculosis complex.

  15. Assessing Trace Evidence Left by Secure Deletion Programs

    NASA Astrophysics Data System (ADS)

    Burke, Paul; Craiger, Philip

    Secure deletion programs purport to permanently erase files from digital media. These programs are used by businesses and individuals to remove sensitive information from media, and by criminals to remove evidence of the tools or fruits of illegal activities. This paper focuses on the trace evidence left by secure deletion programs. In particular, five Windows-based secure deletion programs are tested to determine if they leave identifiable signatures after deleting a file. The results show that the majority of the programs leave identifiable signatures. Moreover, some of the programs do not completely erase file metadata, which enables forensic investigators to extract the name, size, creation date and deletion date of the "deleted" files.

  16. Zgoubi user`s guide. Version 4

    SciTech Connect

    Meot, F.; Valero, S.

    1997-10-15

    The computer code Zgoubi calculates trajectories of charged particles in magnetic and electric fields. At the origin specially adapted to the definition and adjustment of beam lines and magnetic spectrometers, it has so-evolved that it allows the study of systems including complex sequences of optical elements such as dipoles, quadrupoles, arbitrary multipoles and other magnetic or electric devices, and is able as well to handle periodic structures. Compared to other codes, it presents several peculiarities: (1) a numerical method for integrating the Lorentz equation, based on Taylor series, which optimizes computing time and provides high accuracy and strong symplecticity, (2) spin tracking, using the same numerical method as for the Lorentz equation, (3) calculation of the synchrotron radiation electric field and spectra in arbitrary magnetic fields, from the ray-tracing outcomes, (4) the possibility of using a mesh, which allows ray-tracing from simulated or measured (1-D, 2-D or 3-D) field maps, (5) Monte Carlo procedures: unlimited number of trajectories, in-flight decay, etc. (6) built-in fitting procedure, (7) multiturn tracking in circular accelerators including many features proper to machine parameter calculation and survey, and also the simulation of time-varying power supplies. The initial version of the Code, dedicated to the ray-tracing in magnetic fields, was developed by D. Garreta and J.C. Faivre at CEN-Saclay in the early 1970`s. It was perfected for the purpose of studying the four spectrometers (SPES I, II, III, IV) at the Laboratoire National Saturne (CEA-Saclay, France), and SPEG at Ganil (Caen, France). It is now in use in several national and foreign laboratories. This manual is intended only to describe the details of the most recent version of Zogoubi, which is far from being a {open_quotes}finished product{close_quotes}.

  17. SPARK Version 1. 1 user manual

    SciTech Connect

    Weissenburger, D.W.

    1988-01-01

    This manual describes the input required to use Version 1.1 of the SPARK computer code. SPARK 1.1 is a library of FORTRAN main programs and subprograms designed to calculate eddy currents on conducting surfaces where current flow is assumed zero in the direction normal to the surface. Surfaces are modeled with triangular and/or quadrilateral elements. Lorentz forces produced by the interaction of eddy currents with background magnetic fields can be output at element nodes in a form compatible with most structural analysis codes. In addition, magnetic fields due to eddy currents can be determined at points off the surface. Version 1.1 features eddy current streamline plotting with optional hidden-surface-removal graphics and topological enhancements that allow essentially any orientable surface to be modeled. SPARK also has extensive symmetry specification options. In order to make the manual as self-contained as possible, six appendices are included that present summaries of the symmetry options, topological options, coil options and code algorithms, with input and output examples. An edition of SPARK 1.1 is available on the Cray computers at the National Magnetic Fusion Energy Computer Center at Livermore, California. Another more generic edition is operational on the VAX computers at the Princeton Plasma Physics Laboratory and is available on magnetic tape by request. The generic edition requires either the GKS or PLOT10 graphics package and the IMSL or NAG mathematical package. Requests from outside the United States will be subject to applicable federal regulations regarding dissemination of computer programs. 22 refs.

  18. Deletions of the elastin gene in Williams Syndrome

    SciTech Connect

    Greenberg, F.; Nickerson, E.; McCaskill, C.

    1994-09-01

    To investigate deletions in the elastin gene in patients with Williams Syndrome (WS), we screened 37 patients and their parents for deletions in the elastin gene by both fluorescence in situ hybridization (FISH) using cosmid cELN272 containing the 5{prime} end of the elastin gene and by polymerase chain reaction (PCR) using a primer pair which amplifies intron 17 in the elastin gene, producing a polymorphic amplification product. Thirty-two patients have been investigated by both the FISH and PCR techniques, one patient was studied only by PCR, and 4 patients were studied only by FISH. Overall, 34 of 37 patients (92%) were deleted for the elastin gene. Using the PCR marker, 14 patients were informative and 12 were shown to be deleted [maternal (n=5) and paternal (n=7)]. Using cosmid cELN272, 33 of 36 patients demonstrated a deletion of chromosome 7q11.23. In one family, both the mother and daughter were deleted due to an apparently de novo deletion arising in the mother. Three patients were not deleted using the elastin cosmid; 2 of these patients have classic WS. Another non-deleted patient has the typical facial features and hypercalcemia but normal intelligence. These three patients will be important in delineating the critical region(s) responsible for the facial features, hypercalcemia, mental retardation and supravalvular aortic stenosis (SVAS). There was not an absolute correlation between deletions in elastin and SVAS, although these individuals may be at risk for other cardiovascular complications such as hypertention. Since the majority of WS patients are deleted for a portion of the elastin gene, most likely this marker will be an important diagnostic tool, although more patients will need to be studied. Those patients who are not deleted but clinically have WS will be missed using only this one marker. Expansion of the critical region to other loci and identification of additional markers will be essential for identifying all patients with WS.

  19. NPL deletion policy for RCRA-regulated TSD facilities finalized

    SciTech Connect

    1995-05-01

    Under a new policy published by EPA on March 20, 1995, certain sites may be deleted from the National Priorities List (NPL) and deferred to RCRA corrective action. To be deleted from the NPL, a site must (1) be regulated under RCRA as a treatment, storage, or disposal (TSD) facility and (2) meet the four criteria specified by EPA. The new NPL deletion policy, which does not pertain to federal TSD facilities, became effective on April 19, 1995. 1 tab.

  20. Analysis of partial AZFc deletions in Malaysian infertile male subjects.

    PubMed

    Almeamar, Hussein Ali; Ramachandran, Vasudevan; Ismail, Patimah; Nadkarni, Prashan; Fawzi, Nora

    2013-04-01

    Complete deletions in the AZF (a, b, and c) sub-regions of the Y-chromosome have been shown to contribute to unexplained male infertility. However, the role of partial AZFc deletions in male infertility remains to be verified. Three types of partial AZFc deletions have been identified. They are gr/gr, b1/b3, and b2/b3 deletions. A recent meta-analysis showed that ethnic and geographical factors might contribute to the association of partial AZFc deletions with male infertility. This study analyzed the association of partial AZFc deletions in Malaysian infertile males. Fifty two oligozoospermic infertile males and 63 fertile controls were recruited to this study. Screening for partial AZFc deletions was done using the two sequence-tagged sites approach (SY1291 and SY1191) which were analyzed using both the conventional PCR gel-electrophoresis and the high resolution melt, HRM method. Gr/gr deletions were found in 11.53% of the cases and 9.52% of the controls (p = 0.725). A B2/b3 deletion was found in one of the cases (p = 0.269). No B1/b3 deletions were identified in this study. The results of HRM analysis were consistent with those obtained using the conventional PCR gel-electrophoresis method. The HRM analysis was highly repeatable (95% limit of agreement was -0.0879 to 0.0871 for SY1191 melting temperature readings). In conclusion, our study showed that partial AZFc deletions were not associated with male infertility in Malaysian subjects. HRM analysis was a reliable, repeatable, fast, cost-effective, and semi-automated method which can be used for screening of partial AZFc deletions.

  1. Color enhanced version of 360-degree panorama

    NASA Technical Reports Server (NTRS)

    1997-01-01

    This is a 'geometrically improved, color enhanced' version of the 360-degree panorama heretofore known as the 'Gallery Pan', the first contiguous, uniform panorama taken by the Imager for Mars Pathfinder (IMP) over the course of Sols 8, 9, and 10. Different regions were imaged at different times over the three Martian days to acquire consistent lighting and shadow conditions for all areas of the panorama.

    The IMP is a stereo imaging system that, in its fully deployed configuration, stands 1.8 meters above the Martian surface, and has a resolution of two millimeters at a range of two meters. In this geometrically improved version of the panorama, distortion due to a 2.5 degree tilt in the IMP camera mast has been removed, effectively flattening the horizon.

    The IMP has color capability provided by 24 selectable filters -- twelve filters per 'eye.' Its red, green, and blue filters were used to take this image. The color was digitally balanced according to the color transmittance capability of a high-resolution TV at the Jet Propulsion Laboratory (JPL), and is dependent on that device. In this color enhanced version of the panorama, detail in surface features are brought out via changes to saturation and intensity, holding the original hue constant. A threshold was applied to avoid changes to the sky.

    At left is a Lander petal and a metallic mast which is a portion of the low-gain antenna. Misregistration in the antenna and other Lander features is due to parallax in the extreme foreground. On the horizon the double 'Twin Peaks' are visible, about 1-2 kilometers away. The rock 'Couch' is the dark, curved rock at right of Twin Peaks. Another Lander petal is at left-center, showing the fully deployed forward ramp at far left, and rear ramp at right, which rover Sojourner used to descend to the surface of Mars on July 5. Immediately to the left of the rear ramp is the rock 'Barnacle Bill', which scientists found to be andesitic, possibly indicating that it is a

  2. FORM version 4.0

    NASA Astrophysics Data System (ADS)

    Kuipers, J.; Ueda, T.; Vermaseren, J. A. M.; Vollinga, J.

    2013-05-01

    We present version 4.0 of the symbolic manipulation system FORM. The most important new features are manipulation of rational polynomials and the factorization of expressions. Many other new functions and commands are also added; some of them are very general, while others are designed for building specific high level packages, such as one for Gröbner bases. New is also the checkpoint facility, that allows for periodic backups during long calculations. Finally, FORM 4.0 has become available as open source under the GNU General Public License version 3. Program summaryProgram title: FORM. Catalogue identifier: AEOT_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEOT_v1_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.: 151599 No. of bytes in distributed program, including test data, etc.: 1 078 748 Distribution format: tar.gz Programming language: The FORM language. FORM itself is programmed in a mixture of C and C++. Computer: All. Operating system: UNIX, LINUX, Mac OS, Windows. Classification: 5. Nature of problem: FORM defines a symbolic manipulation language in which the emphasis lies on fast processing of very large formulas. It has been used successfully for many calculations in Quantum Field Theory and mathematics. In speed and size of formulas that can be handled it outperforms other systems typically by an order of magnitude. Special in this version: The version 4.0 contains many new features. Most important are factorization and rational arithmetic. The program has also become open source under the GPL. The code in CPC is for reference. You are encouraged to upload the most recent sources from www.nikhef.nl/form/formcvs.php because of frequent bug fixes. Solution method: See "Nature of Problem", above. Additional comments: NOTE: The code in CPC is for reference. You are encouraged

  3. Lunar laboratory

    SciTech Connect

    Keaton, P.W.; Duke, M.B.

    1986-01-01

    An international research laboratory can be established on the Moon in the early years of the 21st Century. It can be built using the transportation system now envisioned by NASA, which includes a space station for Earth orbital logistics and orbital transfer vehicles for Earth-Moon transportation. A scientific laboratory on the Moon would permit extended surface and subsurface geological exploration; long-duration experiments defining the lunar environment and its modification by surface activity; new classes of observations in astronomy; space plasma and fundamental physics experiments; and lunar resource development. The discovery of a lunar source for propellants may reduce the cost of constructing large permanent facilities in space and enhance other space programs such as Mars exploration. 29 refs.

  4. Comparative genomic analysis of the gut bacterium Bifidobacterium longum reveals loci susceptible to deletion during pure culture growth

    PubMed Central

    Lee, Ju-Hoon; Karamychev, VN; Kozyavkin, SA; Mills, D; Pavlov, AR; Pavlova, NV; Polouchine, NN; Richardson, PM; Shakhova, VV; Slesarev, AI; Weimer, B; O'Sullivan, DJ

    2008-01-01

    Background Bifidobacteria are frequently proposed to be associated with good intestinal health primarily because of their overriding dominance in the feces of breast fed infants. However, clinical feeding studies with exogenous bifidobacteria show they don't remain in the intestine, suggesting they may lose competitive fitness when grown outside the gut. Results To further the understanding of genetic attenuation that may be occurring in bifidobacteria cultures, we obtained the complete genome sequence of an intestinal isolate, Bifidobacterium longum DJO10A that was minimally cultured in the laboratory, and compared it to that of a culture collection strain, B. longum NCC2705. This comparison revealed colinear genomes that exhibited high sequence identity, except for the presence of 17 unique DNA regions in strain DJO10A and six in strain NCC2705. While the majority of these unique regions encoded proteins of diverse function, eight from the DJO10A genome and one from NCC2705, encoded gene clusters predicted to be involved in diverse traits pertinent to the human intestinal environment, specifically oligosaccharide and polyol utilization, arsenic resistance and lantibiotic production. Seven of these unique regions were suggested by a base deviation index analysis to have been precisely deleted from strain NCC2705 and this is substantiated by a DNA remnant from within one of the regions still remaining in the genome of NCC2705 at the same locus. This targeted loss of genomic regions was experimentally validated when growth of the intestinal B. longum in the laboratory for 1,000 generations resulted in two large deletions, one in a lantibiotic encoding region, analogous to a predicted deletion event for NCC2705. A simulated fecal growth study showed a significant reduced competitive ability of this deletion strain against Clostridium difficile and E. coli. The deleted region was between two IS30 elements which were experimentally demonstrated to be hyperactive within

  5. Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family.

    PubMed

    Wooderchak, W; Gedge, F; McDonald, M; Krautscheid, P; Wang, X; Malkiewicz, J; Bukjiok, C J; Lewis, T; Bayrak-Toydemir, P

    2010-11-01

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by aberrant vascular development. Mutations in endoglin (ENG) or activin A receptor type II-like 1 (ACVRL1) account for around 90% of HHT patients, 10% of those are large deletions or duplications. We report here the first observation of two distinct, large ENG deletions segregating in one pedigree. An ENG exon 4-7 deletion was observed in a patient with HHT. This deletion was identified in several affected family members. However, some affected family members had an ENG exon 3 deletion instead. These deletions were detected by multiplex ligation-dependent probe amplification and confirmed by mRNA sequencing and an oligo-CGH array. Linkage analysis revealed that one individual with the exon 3 deletion inherited the same chromosome from his mother who has the exon 4-7 deletion. This finding has important clinical implications because it shows that targeted family-specific mutation analysis for exon deletions could have led to the misdiagnosis of some affected family members. © 2010 John Wiley & Sons A/S.

  6. Molecular mapping within the mouse albino-deletion complex.

    PubMed

    Johnson, D K; Hand, R E; Rinchik, E M

    1989-11-01

    Induced germ-line deletion mutations in the mouse provide a malleable experimental system for in-depth molecular and functional analysis of large segments of the mammalian genome. To obtain an initial bank of molecular probes for the region of mouse chromosome 7 associated with the albino-deletion complex, random anonymous DNA clones, derived from a library constructed from flow-sorted chromosomes, were screened on DNAs from Mus musculus-Mus spretus F1 hybrids carrying large, multilocus, lethal albino deletions. Clones falling within a given deletion interval can easily be recognized because hybridization bands that represent restriction fragment length polymorphisms specific for the mutant (deleted) chromosome inherited from the M. musculus parent will be absent. Among 72 informative clones used as probes, one, which defines the locus D7OR1, mapped within two deletions that are 6-11 centimorgans in length. Submapping of this anonymous clone across a panel of 27 smaller deletions localized D7OR1 distal to a chromosomal subregion important for survival of the preimplantation embryo, proximal to globin [beta-chain (Hbb)], and near the shaker-1 (sh-1) locus. The results of these deletion-mapping experiments were also confirmed by standard three-point linkage analysis. This strategy for selection and rapid mapping of anonymous DNA probes to chromosomal segments corresponding to germ-line deletion mutations should contribute to the generation of more detailed physical and functional maps of genomic regions associated with mutant developmental phenotypes.

  7. Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes

    PubMed Central

    Flynn, Elizabeth K.; Kamat, Aparna; Lach, Francis P.; Donovan, Frank X.; Kimble, Danielle C.; Narisu, Narisu; Sanborn, Erica; Boulad, Farid; Davies, Stella M.; Gillio, Alfred P.; Harris, Richard E.; MacMillan, Margaret L.; Wagner, John E.; Smogorzewska, Agata; Auerbach, Arleen D.; Ostrander, Elaine A.; Chandrasekharappa, Settara C.

    2014-01-01

    Fanconi anemia (FA) is a rare recessive disease resulting from mutations in one of at least 16 different genes. Mutation types and phenotypic manifestations of FA are highly heterogeneous and influence the clinical management of the disease. We analyzed 202 FA families for large deletions, using high-resolution Comparative Genome Hybridization arrays (arrayCGH), Single Nucleotide Polymorphism arrays (SNParrays) and DNA sequencing. We found pathogenic deletions in 88 FANCA, seven FANCC, two FANCD2, and one FANCB families. We find 35% of FA families carry large deletions, accounting for 18% of all FA pathogenic variants. Cloning and sequencing across the deletion breakpoints revealed that 52 FANCA deletion ends, and one FANCC deletion end extended beyond the gene boundaries, potentially affecting neighboring genes with phenotypic consequences. Seventy-five percent of the FANCA deletions are Alu-Alu mediated, predominantly by AluY elements, and appear to be caused by Non-Allelic Homologous Recombination. Individual Alu hotspots were identified. Defining the haplotypes of four FANCA deletions shared by multiple families revealed that three share a common ancestry. Knowing the exact molecular changes that lead to the disease may be critical for a better understanding of the FA phenotype, and to gain insight into the mechanisms driving these pathogenic deletion variants. PMID:25168418

  8. Laboratory accreditation

    SciTech Connect

    Pettit, R.B.

    1998-08-01

    Accreditation can offer many benefits to a testing or calibration laboratory, including increased marketability of services, reduced number of outside assessments, and improved quality of services. Compared to ISO 9000 registration, the accreditation process includes a review of the entire quality system, but in addition a review of testing or calibration procedures by a technical expert and participation in proficiency testing in the areas of accreditation. Within the DOE, several facilities have recently become accredited in the area of calibration, including Sandia National Laboratories, Oak Ridge, AlliedSignal FM and T; Lockheed Martin Idaho Technologies Co., and Pacific Northwest National Lab. At the national level, a new non-profit organization was recently formed called the National Cooperation for Laboratory Accreditation (NACLA). The goal of NACLA is to develop procedures, following national and international requirements, for the recognition of competent accreditation bodies in the US. NACLA is a voluntary partnership between the public and private sectors with the goal of a test or calibration performed once and accepted world wide. The NACLA accreditation body recognition process is based on the requirements of ISO Guide 25 and Guide 58. A membership drive will begin some time this fall to solicit organizational members and an election of a permanent NACLA Board of Directors will follow later this year or early 1999.

  9. Versions of the Waste Reduction Model (WARM)

    EPA Pesticide Factsheets

    This page provides a brief chronology of changes made to EPA’s Waste Reduction Model (WARM), organized by WARM version number. The page includes brief summaries of changes and updates since the previous version.

  10. SITE CHARACTERIZATION LIBRARY VERSION 3.0

    EPA Science Inventory

    The Site Characterization Library is a CD that provides a centralized, field-portable source for site characterization information. Version 3 of the Site Characterization Library contains additional (from earlier versions) electronic documents and computer programs related to th...

  11. SITE CHARACTERIZATION LIBRARY VERSION 3.0

    EPA Science Inventory

    The Site Characterization Library is a CD that provides a centralized, field-portable source for site characterization information. Version 3 of the Site Characterization Library contains additional (from earlier versions) electronic documents and computer programs related to th...

  12. BUCKY instruction manual, version 3.3

    NASA Technical Reports Server (NTRS)

    Smith, James P.

    1994-01-01

    The computer program BUCKY is a p-version finite element package for the solution of structural problems. The current version of BUCKY solves the 2-D plane stress, 3-D plane stress plasticity, 3-D axisymmetric, Mindlin and Kirchoff plate bending, and buckling problems. The p-version of the finite element method is a highly accurate version of the traditional finite element method. Example cases are presented to show the accuracy and application of BUCKY.

  13. Users guide for ENVSTD program Version 2. 0 and LTGSTD program Version 2. 0

    SciTech Connect

    Crawley, D.B.; Riesen, P.K.; Briggs, R.S.

    1989-02-01

    On January 30, 1989, the US Department of Energy (DOE) promulgated 10 CFR Part 435, Subpart A, an Interim Rule entitled ''Energy Conservation Voluntary Performance Standards for New Commercial and Multi-Family High Rise Residential Buildings; Mandatory for New Federal Buildings.'' As a consequence, federal agencies must design all future federal commercial and multifamily high rise residential buildings in accordance with the Standards, or show that their current standards already meet or exceed the energy-efficiency requirements of the Standards. Although these newly enacted Standards do not regulate the design of nonfederal buildings, DOE recommends that all design professionals use the Standards as guidelines for designing energy-conserving buildings. To encourage private sector use, the Standards were presented in the January 30, 1989, Federal Register in the format typical of commercial standards rather than a federal regulation. As a further help, DOE supported the development of various microcomputer programs to ease the use of the Standards. Two of these programs/emdash/ENVSTD (Version 2.0) and LTGSTD (Version 2.0)/emdash/are detailed in this users guide and provided on the accompanying diskette. This package, developed by Pacific Northwest Laboratory (PNL), is intended to facilitate the designer's use of the Standards dealing specifically with a building's envelope and lighting system designs. Using these programs will greatly simplify the designer's task of performing the sometimes complex calculations needed to determine a design's compliance with the Standards. 3 refs., 6 figs.

  14. Investigating Evolutionary Biology in the Laboratory.

    ERIC Educational Resources Information Center

    McComas, William F., Ed.

    This document presents a collection of useful laboratory-based activities for teaching about evolution. Some of the activities in this monograph are previously unpublished exercises, some are new versions of well-known labs, a few make useful classroom demonstrations, and several require somewhat sophisticated equipment. As a group, the activities…

  15. Neutrino Mass Seesaw Version 3: Recent Developments

    SciTech Connect

    Ma, Ernest

    2009-04-20

    The origin of neutrino mass is usually attributed to a seesaw mechanism, either through a heavy Majorana fermion singlet (version 1) or a heavy scalar triplet (version 2). Recently, the idea of using a heavy Majorana fermion triplet (version 3) has gained some attention. This is a review of the basic idea involved, its U(1) gauge extension, and some recent developments.

  16. SRT Status and Plans for Version-7

    NASA Technical Reports Server (NTRS)

    Susskind, Joel; Blaisdell, John M.; Iredell, Lena

    2013-01-01

    Status of Version-6 at GSFC-GSFC version-6 must match JPL version-6 before we can improve it. Short-range plans evolutionary improvements. Mid-Range plans- New thrusts, Higher spatial resolution retrievals cloud spectral emissivity. Long-range plans- more challenging ideas

  17. Large Deletions in the pAtC58 Megaplasmid of Agrobacterium tumefaciens Can Confer Reduced Carriage Cost and Increased Expression of Virulence Genes

    PubMed Central

    Morton, Elise R.; Merritt, Peter M.; Bever, James D.; Fuqua, Clay

    2013-01-01

    The accessory plasmid pAtC58 of the common laboratory strain of Agrobacterium tumefaciens confers numerous catabolic functions and has been proposed to play a role in virulence. Genomic sequencing of evolved laboratory strains of A. tumefaciens revealed the presence of multiple deletion events in the At plasmid, with reductions in plasmid size ranging from 25% to 30% (115–194 kb). Flanking both ends of the sites of these deletions is a short-nucleotide repeat sequence that is in a single copy in the deleted plasmids, characteristic of a phage- or transposon-mediated deletion event. This repeat sequence is widespread throughout the C58 genome, but concentrated on the At plasmid, suggesting its frequency to be nonrandom. In this study, we assess the prevalence of the larger of these deletions in multiple C58 derivatives and characterize its functional significance. We find that in addition to elevating virulence gene expression, this deletion is associated with a significantly reduced carriage cost to the cell. These observations are a clear demonstration of the dynamic nature of the bacterial genome and suggest a mechanism for genetic plasticity of these costly but otherwise stable plasmids. Additionally, this phenomenon could be the basis for some of the dramatic recombination events so ubiquitous within and among megaplasmids. PMID:23783172

  18. Documentation for the machine-readable version of the Morphological Catalogue of Galaxies (MCG) of Vorontsov-Velyaminov et al, 1962-1968

    NASA Technical Reports Server (NTRS)

    Warren, W. H., Jr.

    1982-01-01

    Modifications, corrections, and the record format are provided for the machine-readable version of the "Morphological Catalogue of Galaxies.' In addition to hundreds of individual corrections, a detailed comparison of the machine-readable with the published catalogue resulted in the addition of 116 missing objects, the deletion of 10 duplicate records, and a format modification to increase storage efficiency.

  19. Embrittlement data base, version 1

    SciTech Connect

    Wang, J.A.

    1997-08-01

    The aging and degradation of light-water-reactor (LWR) pressure vessels is of particular concern because of their relevance to plant integrity and the magnitude of the expected irradiation embrittlement. The radiation embrittlement of reactor pressure vessel (RPV) materials depends on many different factors such as flux, fluence, fluence spectrum, irradiation temperature, and preirradiation material history and chemical compositions. These factors must be considered to reliably predict pressure vessel embrittlement and to ensure the safe operation of the reactor. Based on embrittlement predictions, decisions must be made concerning operating parameters and issues such as low-leakage-fuel management, possible life extension, and the need for annealing the pressure vessel. Large amounts of data from surveillance capsules and test reactor experiments, comprising many different materials and different irradiation conditions, are needed to develop generally applicable damage prediction models that can be used for industry standards and regulatory guides. Version 1 of the Embrittlement Data Base (EDB) is such a comprehensive collection of data resulting from merging version 2 of the Power Reactor Embrittlement Data Base (PR-EDB). Fracture toughness data were also integrated into Version 1 of the EDB. For power reactor data, the current EDB lists the 1,029 Charpy transition-temperature shift data points, which include 321 from plates, 125 from forgoings, 115 from correlation monitor materials, 246 from welds, and 222 from heat-affected-zone (HAZ) materials that were irradiated in 271 capsules from 101 commercial power reactors. For test reactor data, information is available for 1,308 different irradiated sets (352 from plates, 186 from forgoings, 303 from correlation monitor materials, 396 from welds and 71 from HAZs) and 268 different irradiated plus annealed data sets.

  20. Two alternative versions of strangeness

    PubMed Central

    Nishijima, Kazuhikoa

    2008-01-01

    The concept of strangeness emerged from the low energy phenomenology before the entry of quarks in particle physics. The connection between strangeness and isospin is rather accidental and loose and we recognize later that the definition of strangeness is model-dependent. Indeed, in Gell-Mann’s triplet quark model we realize that there is a simple alternative representation of strangeness. When the concept of generations is incorporated into the quark model we find that only the second alternative version of strangeness remains meaningful, whereas the original one does no longer keep its significance. PMID:18997448

  1. Computer version of astronomical ephemerides.

    NASA Astrophysics Data System (ADS)

    Choliy, V. Ya.

    A computer version of astronomical ephemerides for bodies of the Solar System, stars, and astronomical phenomena was created at the Main Astronomical Observatory of the National Academy of Sciences of Ukraine and the Astronomy and Cosmic Physics Department of the Taras Shevchenko National University. The ephemerides will be distributed via INTERNET or in the file form. This information is accessible via the web servers space.ups.kiev.ua and alfven.ups.kiev.ua or the address choliy@astrophys.ups.kiev.ua.

  2. CANFOR Portuguese version: validation study

    PubMed Central

    2013-01-01

    Background The increase in prisoner population is a troublesome reality in several regions of the world. Along with this growth there is increasing evidence that prisoners have a higher proportion of mental illnesses and suicide than the general population. In order to implement strategies that address criminal recidivism and the health and social status of prisoners, particularly in mental disordered offenders, it is necessary to assess their care needs in a comprehensive, but individual perspective. This assessment must include potential harmful areas like comorbid personality disorder, substance misuse and offending behaviours. The Camberwell Assessment of Need – Forensic Version (CANFOR) has proved to be a reliable tool designed to accomplish such aims. The present study aimed to validate the CANFOR Portuguese version. Methods The translation, adaptation to the Portuguese context, back-translation and revision followed the usual procedures. The sample comprised all detainees receiving psychiatric care in four forensic facilities, over a one year period. A total of 143 subjects, and respective case manager, were selected. The forensic facilities were chosen by convenience: one prison hospital psychiatric ward (n=68; 47.6%), one male (n=24; 16.8%) and one female (n=22; 15.4%) psychiatric clinic and one civil security ward (n=29; 20.3%), all located nearby Lisbon. Basic descriptive statistics and Kappa weighted coefficients were calculated for the inter-rater and the test-retest reliability studies. The convergent validity was evaluated using the Global Assessment of Functioning and the Brief Psychiatric Rating Scale scores. Results The majority of the participants were male and single, with short school attendance, and accused of a crime involving violence against persons. The most frequent diagnosis was major depression (56.1%) and almost half presented positive suicide risk. The reliability study showed average Kappa weighted coefficients of 0.884 and 0

  3. ASPEN Version 3.0

    NASA Technical Reports Server (NTRS)

    Rabideau, Gregg; Chien, Steve; Knight, Russell; Schaffer, Steven; Tran, Daniel; Cichy, Benjamin; Sherwood, Robert

    2006-01-01

    The Automated Scheduling and Planning Environment (ASPEN) computer program has been updated to version 3.0. ASPEN is a modular, reconfigurable, application software framework for solving batch problems that involve reasoning about time, activities, states, and resources. Applications of ASPEN can include planning spacecraft missions, scheduling of personnel, and managing supply chains, inventories, and production lines. ASPEN 3.0 can be customized for a wide range of applications and for a variety of computing environments that include various central processing units and random access memories.

  4. Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three-multiplex PCR

    SciTech Connect

    Risch, N. )

    1992-09-01

    Deletion mutations of the dystrophin gene may cause either the severe Duchenne muscular dystrophy (DMD) or the milder, allelic Becker muscular dystrophy (BMD) and are clustered in two high-frequency-deletion regions (HFDRs) located, respectively, 500 kb and 1,200 kb downstream from the 5[prime] end of the gene. Three PCR reactions described allowed the analysis of a total of 30 exons and led, to the identification of three additional deletions involving the following exons: (a) 42 only, (b) 28-42, and (c) 16 only, none of which were detected with the two original multiplex reactions. Therefore, the three modified multiplexes detected 95 of the 96 deletions identified among the 152 patients studied so far by using Southern analysis and cDNA probes. The only deletion that remained undetected with this system involves exons 22-25 and generates the junction fragment described elsewhere. The percentage of deletion mutations among DMS/BMD patients amounts to 63%, which is in agreement with similar estimates from other laboratories. When field-inversion gel electrophoresis is coupled to Southern analysis, the detection rate of deletion and duplication mutations reaches 65%.

  5. Deletion of 6q16-q21 in human lymphoid malignancies: a mapping and deletion analysis.

    PubMed

    Jackson, A; Carrara, P; Duke, V; Sinclair, P; Papaioannou, M; Harrison, C J; Foroni, L

    2000-06-01

    Two distinct regions of minimal deletion (RMD) have been identified at 6q25-q27 in non-Hodgkin's lymphoma (RMD-1), and at 6q21-q23 in acute lymphoblastic leukemia (ALL; RMD-2) by loss of heterozygosity and fluorescence in situ hybridization studies. In this study, 30 overlapping yeast artificial chromosomes (YACs), 1 expressed sequence tag, and 11 novel YAC ends were identified using bidirectional YAC walks between markers D6S447 (proximal) and D6S246 (distal) in RMD-2. The genes AF6q21, human homologue of the Drosophila tailless (HTLX), CD24 antigen, the Kruppel-like zinc finger BLIMP1, and cyclin C (CCNC), previously mapped to 6q21, were accurately positioned in a telomere-to-centromere orientation. Approximately 3.5 Mb were found to separate the BLIMP1 (adjacent to D6S447) and AF6q21 genes (telomeric to D6S246). Deletions of 6q were investigated in 21 cases of ALL using the newly characterized YAC clones in dual-color fluorescence in situ hybridization studies. A region centromeric to D6S447 (containing marker D6S283) and a region telomeric to marker CHLC.GGAT16CO2 (and containing marker D6S268) were identified as distinct and nonoverlapping regions of deletion in ALL.

  6. Validation of a Persian Version of Motorcycle Rider Behavior Questionnaire

    PubMed Central

    Motevalian, Seyed Abbas; Asadi-Lari, Mohsen; Rahimi, Habibollah; Eftekhar, Mehrdad

    2011-01-01

    In Iran, road traffic injuries are the first cause of burden of disease and motorcyclists are the most vulnerable road users. Elliot and colleagues developed the “Motorcycle Rider Behavior Questionnaire” (MRBQ), on the basis of Reason’s “Driver Behavior Questionnaire” (DBQ) in 2007. The purpose of this study was to assess the validity and reliability of a Persian version of MRBQ. The 43-item MRBQ was adapted to Persian according to translation-back translation method. The questionnaire was significantly revised after assessment of content validity. In the revised version, 10 items of original MRBQ were deleted and 15 new items were added. The revised MRBQ was used in a survey of 518 motorcyclists. To assess the construct validity of MRBQ, we used Buss-Perry Aggression questionnaire concurrently on all of the subjects. After three weeks, we carried out the retest study on 119 out of 518 subjects. The mean age of the subjects was 32.5 years (SD=8.8). All of the participants were male with mean of 9.3 years of motorcycle riding experience (SD=7.3). Principal Components Analysis (PCA) showed six subscales: “Speed Violations”, “Traffic Errors”, “Safety Violations”, “Traffic Violations”, “Stunts” and “Control Errors”, which accounted for 36.44% of total variance together. For each of these subscales, Cronbach’s Alpha was between 0.79 to 0.91. Intraclass Correlation Coefficient for six subscales and total questionnaire were from 0.73 to 0.91. There were significant correlations between MRBQ subscales and subscales of Buss-Perry aggression questionnaire. The results indicated that the 48-item Persian version of MRBQ is a suitable measure for studying motorcyclists’ behavior. PMID:22105387

  7. Validation of a persian version of motorcycle rider behavior questionnaire.

    PubMed

    Motevalian, Seyed Abbas; Asadi-Lari, Mohsen; Rahimi, Habibollah; Eftekhar, Mehrdad

    2011-01-01

    In Iran, road traffic injuries are the first cause of burden of disease and motorcyclists are the most vulnerable road users. Elliot and colleagues developed the "Motorcycle Rider Behavior Questionnaire" (MRBQ), on the basis of Reason's "Driver Behavior Questionnaire" (DBQ) in 2007. The purpose of this study was to assess the validity and reliability of a Persian version of MRBQ. The 43-item MRBQ was adapted to Persian according to translation-back translation method. The questionnaire was significantly revised after assessment of content validity. In the revised version, 10 items of original MRBQ were deleted and 15 new items were added. The revised MRBQ was used in a survey of 518 motorcyclists. To assess the construct validity of MRBQ, we used Buss-Perry Aggression questionnaire concurrently on all of the subjects. After three weeks, we carried out the retest study on 119 out of 518 subjects. The mean age of the subjects was 32.5 years (SD=8.8). All of the participants were male with mean of 9.3 years of motorcycle riding experience (SD=7.3). Principal Components Analysis (PCA) showed six subscales: "Speed Violations", "Traffic Errors", "Safety Violations", "Traffic Violations", "Stunts" and "Control Errors", which accounted for 36.44% of total variance together. For each of these subscales, Cronbach's Alpha was between 0.79 to 0.91. Intraclass Correlation Coefficient for six subscales and total questionnaire were from 0.73 to 0.91. There were significant correlations between MRBQ subscales and subscales of Buss-Perry aggression questionnaire. The results indicated that the 48-item Persian version of MRBQ is a suitable measure for studying motorcyclists' behavior.

  8. A version management system for SNOMED CT.

    PubMed

    Ingenerf, Josef; Beisiegel, Thomas

    2008-01-01

    The parallel use of different versions of classifications and terminologies complicates the comparability of coded patient data. Annual adaptations of classifications like ICD-10 can be dealt with by using simple conversion tables. Terminologies like SNOMED CT have a much more complicate structure and biannual versions in different languages are offered in at least four representation formats. A version management system, called Terminology Version (TV) Manager, has been developed for searching and navigating in synchronized presentations of selected versions of SNOMED CT. Several functions for qualitative and quantitative comparisons of subtrees of interest are extended by accessing external software systems.

  9. Using Topic Modeling and Text Embeddings to Predict Deleted Tweets

    SciTech Connect

    Potash, Peter J.; Bell, Eric B.; Harrison, Joshua J.

    2016-02-29

    Predictive models for tweet deletion have been a relatively unexplored area of Twitter-related computational research. We first approach the deletion of tweets as a spam detection problem, applying a small set of handcrafted features to improve upon the current state-of-the- art in predicting deleted tweets. Next, we apply our approach to a dataset of deleted tweets that better reflects the current deletion rate. Since tweets are deleted for reasons beyond just the presence of spam, we apply topic modeling and text embeddings in order to capture the semantic content of tweets that can lead to tweet deletion. Our goal is to create an effective model that has a low-dimensional feature space and is also language-independent. A lean model would be computationally advantageous processing high-volumes of Twitter data, which can reach 9,885 tweets per second. Our results show that a small set of spam-related features combined with word topics and character-level text embeddings provide the best f1 when trained with a random forest model. The highest precision of the deleted tweet class is achieved by a modification of paragraph2vec to capture author identity.

  10. 29 CFR 1610.20 - Deletion of exempted matters.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 29 Labor 4 2010-07-01 2010-07-01 false Deletion of exempted matters. 1610.20 Section 1610.20 Labor... Production or Disclosure Under 5 U.S.C. 552 § 1610.20 Deletion of exempted matters. Where requested records contain matters which are exempted under 5 U.S.C. 552(b) but which matters are reasonably segregable...

  11. 29 CFR 1610.20 - Deletion of exempted matters.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 29 Labor 4 2011-07-01 2011-07-01 false Deletion of exempted matters. 1610.20 Section 1610.20 Labor... Production or Disclosure Under 5 U.S.C. 552 § 1610.20 Deletion of exempted matters. Where requested records contain matters which are exempted under 5 U.S.C. 552(b) but which matters are reasonably segregable...

  12. Linguistic and Psychomotor Development in Children with Chromosome 14 Deletions

    ERIC Educational Resources Information Center

    Zampini, Laura; D'Odorico, Laura; Zanchi, Paola; Zollino, Marcella; Neri, Giovanni

    2012-01-01

    The present study focussed on a specific type of rare genetic condition: chromosome 14 deletions. Children with this genetic condition often show developmental delays and brain and neurological problems, although the type and severity of symptoms varies depending on the size and location of the deleted genetic material. The specific aim of the…

  13. Multivariate Variable Deletion Methods: Don't Do Stepwise

    ERIC Educational Resources Information Center

    Kadhi, TauGamba

    2003-01-01

    This paper explains the theory and methodology behind the use of variable deletion in canonical correlational analysis (CCA). Both the Capraro and Capraro (2002) and the Cantrell (1997) data tables are evaluated and explained in order to clarify strategies utilized. Understanding of variable deletion strategies and their proper usages in a CCA…

  14. Towards earlier diagnosis of 22q11 deletions

    PubMed Central

    Tobias, E; Morrison, N; Whiteford, M; Tolmie, J

    1999-01-01

    Over a 7 year period, 551 patients were investigated for the presence of a chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis of the presenting features of the 67 individuals with this chromosome deletion permitted us to devise guidelines to facilitate early diagnosis.

 PMID:10569971

  15. A Note On Deletion Rules in Fast Speech.

    ERIC Educational Resources Information Center

    Hewlett, Nigel

    In fast speech, certain segments pronounced in careful speech may be deleted. Rules of a generative phonology have been used to account for fast speech forms. An alternative approach is suggested which views fast speech deletions as merely limiting cases of segment reduction, under conditions of increased tempo and/or casualness. To complement…

  16. 75 FR 60739 - Procurement List; Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-01

    ... FROM PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List; Additions and Deletions AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Additions to and Deletions... will be furnished by nonprofit agencies employing persons who are blind or have other...

  17. 19 CFR 142.49 - Deletion of C-4 Code.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... with any justification and without prior notification in cases of willfulness or when public health... 19 Customs Duties 2 2011-04-01 2011-04-01 false Deletion of C-4 Code. 142.49 Section 142.49... TREASURY (CONTINUED) ENTRY PROCESS Line Release § 142.49 Deletion of C-4 Code. (a) By Customs. A...

  18. 19 CFR 142.49 - Deletion of C-4 Code.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... with any justification and without prior notification in cases of willfulness or when public health... 19 Customs Duties 2 2012-04-01 2012-04-01 false Deletion of C-4 Code. 142.49 Section 142.49... TREASURY (CONTINUED) ENTRY PROCESS Line Release § 142.49 Deletion of C-4 Code. (a) By Customs. A...

  19. 37 CFR 2.35 - Adding, deleting, or substituting bases.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 37 Patents, Trademarks, and Copyrights 1 2013-07-01 2013-07-01 false Adding, deleting, or... OFFICE, DEPARTMENT OF COMMERCE RULES OF PRACTICE IN TRADEMARK CASES The Written Application § 2.35 Adding... add, substitute or delete a basis, unless the applicant meets the requirements for...

  20. 37 CFR 2.35 - Adding, deleting, or substituting bases.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 37 Patents, Trademarks, and Copyrights 1 2011-07-01 2011-07-01 false Adding, deleting, or... OFFICE, DEPARTMENT OF COMMERCE RULES OF PRACTICE IN TRADEMARK CASES The Written Application § 2.35 Adding... add, substitute or delete a basis, unless the applicant meets the requirements for...

  1. 37 CFR 2.35 - Adding, deleting, or substituting bases.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 37 Patents, Trademarks, and Copyrights 1 2014-07-01 2014-07-01 false Adding, deleting, or... OFFICE, DEPARTMENT OF COMMERCE RULES OF PRACTICE IN TRADEMARK CASES The Written Application § 2.35 Adding... add, substitute or delete a basis, unless the applicant meets the requirements for...

  2. 78 FR 53733 - Procurement List Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-30

    ... PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List Additions and Deletions AGENCY: Committee for Purchase from People Who are Blind or Severely Disabled. ACTION: Additions to and Deletions from the...: September 30, 2013. ADDRESSES: Committee for Purchase From People Who Are Blind or Severely Disabled, 1401...

  3. 76 FR 29209 - Procurement List Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-20

    ... PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List Additions and Deletions AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Additions to and deletions from the.... ADDRESSES: Committee for Purchase From People Who Are Blind or Severely Disabled, Jefferson Plaza 2,...

  4. Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Günes, Serkan; Ekinci, Özalp; Ekinci, Nuran; Toros, Fevziye

    2017-01-01

    Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.

  5. Linguistic and Psychomotor Development in Children with Chromosome 14 Deletions

    ERIC Educational Resources Information Center

    Zampini, Laura; D'Odorico, Laura; Zanchi, Paola; Zollino, Marcella; Neri, Giovanni

    2012-01-01

    The present study focussed on a specific type of rare genetic condition: chromosome 14 deletions. Children with this genetic condition often show developmental delays and brain and neurological problems, although the type and severity of symptoms varies depending on the size and location of the deleted genetic material. The specific aim of the…

  6. Computed structures of point deletion mutants and their enzymatic activities

    PubMed Central

    Berrondo, Monica; Gray, Jeffrey J.

    2011-01-01

    Point deletions in enzymes can vary in effect from negligible to complete loss of activity, however, these effects are not generally predictable. Deletions are widely observed in nature and often result in diseases such as cancer, cystic fibrosis, or osteogenesis imperfecta. Here, we have developed an algorithm to model the perturbed structures of deletion mutants with the ultimate goal of predicting their activities. The algorithm works by deleting the specified residue from the wild-type structure, creating a gap that is closed using a combination of local and global moves that change the backbone torsion angles of the protein structure. On a set of five proteins for which both wild-type and deletion mutant x-ray crystal structures are available, the algorithm produces deep, narrow energy funnels within 1.5 Å of the crystal structure for the deletion mutants. To assess the ability of our algorithm to predict activity from the predicted structures, we tested the correlation of experimental activity with several measures of the predicted structure ensemble using a set of 45 point deletions from ricin. Estimates incorporating likely prevalence of active and inactive deletion sites suggest that activity can be predicted correctly over 60% of the time from the active site rmsd of the lowest energy predicted structures. The predictions are stronger than simple sequence organization measures, but more fundamental work is required in structure prediction and enzyme activity determination to allow consistent prediction of activity. PMID:21905110

  7. Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

    PubMed Central

    Calì, Francesco; Ruggeri, Giuseppa; Vinci, Mirella; Meli, Concetta; Carducci, Carla; Leuzzi, Vincenzo; Pozzessere, Simone; Schinocca, Pietro; Ragalmuto, Alda; Chiavetta, Valeria; Miccichè, Salvatore

    2010-01-01

    A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient gel electrophoresis (DGGE), denaturing high performance liquid chromatography (DHPLC), and direct sequencing. In recent years, it has been shown that a significant proportion of undetermined alleles consist of large deletions overlapping one or more exons. These deletions have been difficult to detect in compound heterozygotes using gene-scanning methods due to a masking effect of the non-deleted allele. To date, no systematic search has been carried out for such exon deletions in Italian patients with phenylketonuria or mild hyperphenylalaninemia. We used multiplex ligation- dependent probe amplification (MLPA), comparative multiplex dosage analysis (CMDA), and real-time PCR to search for both large deletions and duplications of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemia patients. Four deletions removing different phenylalanine hydroxylase (PAH) gene exons were identified in 12 patients. Two of these deletions involving exons 4-5-6-7-8 (systematic name c.353-?_912 + ?del) and exon 6 (systematic name c.510-?_706 + ?del) have not been reported previously. In this study, we show that exon deletion of the PAH gene accounts for 1.7% of all mutant PAH alleles in Italian hyperphenylalaninemics. PMID:19946181

  8. 77 FR 12816 - Procurement List Proposed Addition and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-03-02

    ... PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List Proposed Addition and Deletions AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed addition to and... disabilities and delete products previously furnished by such agencies. Comments Must Be Received On or...

  9. Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Günes, Serkan; Ekinci, Özalp; Ekinci, Nuran; Toros, Fevziye

    2017-01-01

    Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.

  10. 75 FR 49481 - Procurement List; Additions and Deletion

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-08-13

    ... PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List; Additions and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Additions to and deletion from the.... ADDRESSES: Committee for Purchase From People Who Are Blind or Severely Disabled, Jefferson Plaza 2, Suite...

  11. 75 FR 56995 - Procurement List Proposed Additions and Deletion

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-09-17

    ... PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List Proposed Additions and Deletion AGENCY... Deletion From the Procurement List. SUMMARY: The Committee is proposing to add products to the Procurement...-0655, or e-mail: CMTEFedReg@AbilityOne.gov . SUPPLEMENTARY INFORMATION: This notice is published...

  12. 44 CFR 5.27 - Deletion of identifying details.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 44 Emergency Management and Assistance 1 2010-10-01 2010-10-01 false Deletion of identifying details. 5.27 Section 5.27 Emergency Management and Assistance FEDERAL EMERGENCY MANAGEMENT AGENCY... Availability of General Agency Information, Rules, Orders, Policies, and Similar Material § 5.27 Deletion of...

  13. Virtual Laboratories

    NASA Astrophysics Data System (ADS)

    Hut, P.

    At the frontier of most areas in science, computer simulations playa central role. The traditional division of natural science into experimental and theoretical investigations is now completely outdated. Instead, theory, simulation, and experimentation form three equally essential aspects, each with its own unique flavor and challenges. Yet, education in computational science is still lagging far behind, and the number of text books in this area is minuscule compared to the many text books on theoretical and experimental science. As a result, many researchers still carry out simulations in a haphazard way, without properly setting up the computational equivalent of a well equipped laboratory. The art of creating such a virtual laboratory, while providing proper extensibility and documentation, is still in its infancy. A new approach is described here, Open Knowledge, as an extension of the notion of Open Source software. Besides open source code, manuals, and primers, an open knowledge project provides simulated dialogues between code developers, thus sharing not only the code, but also the motivations behind the code.

  14. Regional Emissions Data Base and Evaluation System (REDES): Technical and system documentation of Version 2. 0

    SciTech Connect

    Rausch, J.V.; Boyd, G.A.

    1990-11-01

    The US Department of Energy (DOE) Innovative Clean Coal Technology (ICCT) program has solicited proposals from the private sector to demonstrate innovative technologies that allow the clean use of coal as an energy source. To aid in evaluating the potential of these proposed technologies to reduce environmental residuals, DOE and ICCT Source Evaluation Board asked Argonne National Laboratory to develop a series of data bases and a personal-computer-based model. Argonne created version 1.0 of the Regional Emissions Data Base and Evaluation System (REDES) in 1988. Version 1.0 was revised, and Version 2.0 was released in 1989. Version 2.0 of REDES is available to the public through the National Energy Software Center (telephone 708-972-7250). In 1988, Argonne National Laboratory published Regional Emissions Data Base and Evaluation System (REDES), report ANL/EES-TM-351, to document Version 1.0 of the REDES data bases and the computer model. In 1990, Argonne prepared this report to describe the changes and improvements that were made to Version 1.0 of REDES to create Version 2.0. Together with ANL/EES/TM-351, this report provides the user with a complete description of REDES, which is designed to forecast the change in emissions that could result from using a particular clean coal technology. 29 figs., 6 tabs.

  15. SRT Status and Plans for Version-7

    NASA Technical Reports Server (NTRS)

    Susskind, Joel; Blaisdell, John; Iredell, Lena; Kouvaris, Louis

    2015-01-01

    The AIRS Science Team Version-6 retrieval algorithm is currently producing level-3 Climate Data Records (CDRs) from AIRS that have been proven useful to scientists in understanding climate processes. CDRs are gridded level-3 products which include all cases passing AIRS Climate QC. SRT has made significant further improvements to AIRS Version-6. Research is continuing at SRT toward the development of AIRS Version-7. At the last Science Team Meeting, we described results using SRT AIRS Version-6.19. SRT Version-6.19 is now an official build at JPL called 6.2. SRTs latest version is AIRS Version-6.22. We have also adapted AIRS Version-6.22 to run with CrISATMS. AIRS Version-6.22 and CrIS Version- 6.22 both run now on JPL computers, but are not yet official builds. The main reason for finalization of Version-7, and using it in the relatively near future for the future processing and reprocessing of old AIRS data, is to produce even better CDRs for use by climate scientists. For this reason all results shown in this talk use only AIRS Climate QC.

  16. Chromosome 7 monosomy and deletions in myeloproliferative diseases.

    PubMed

    Tripputi, P; Cassani, B; Alfano, R; Graziani, D; Cigognini, D; Doi, P; Bignotto, M; Corneo, G; Coggi, G

    2001-09-01

    We studied deletion and monosomy of chromosome 7 in 150 patients with myeloproliferative diseases. We found 8/150 patients with monosomy 7 by cytogenetics and 4/150 with deletions of the long arm of chromosome 7 by restriction fragment length polymorphism (RFLP) analysis performed with Southern and polymerase chain reaction. To overcome limitation of RFLP analysis, we restricted loss of heterozygosity study with microsatellites to 45 patients, observing deletion 7q31.1 in 7/45 patients. In all patients with molecular alterations the deletion was observed only in myeloid cells, while the monosomy was detected in both myeloid precursor and lymphocytes. This finding suggests a CD34-totipotent stem cell origin for the monosomy and a colony forming unit - granulocyte, erythrocyte, monocyte, megakaryocytes (CFU-GEMM) stem cell origin for the deletions.

  17. Delineation of 14q32.3 deletion syndrome.

    PubMed

    Ortigas, A P; Stein, C K; Thomson, L L; Hoo, J J

    1997-06-01

    A patient with a 14q32.3 terminal band deletion and cat cry is reported. Review of four other 14q32.3 deletion cases suggests the possible presence of a recognisable 14q32.3 terminal deletion syndrome, which is characterised by (1) apparently postnatal onset of small head size in comparison to body size, (2) high forehead with lateral hypertrichosis, (3) epicanthic folds, (4) broad nasal bridge, (5) high arched palate, (6) single palmar crease, and (7) mild to moderate developmental delay. Although none of the above seven features in unique to this syndrome, and indeed are quite common in other chromosomal disorders or genetic syndromes, patients with a terminal 14q32.3 deletion do show a recognisable facial gestalt. Interestingly, unlike ring chromosome 14, the 14q32.3 terminal deletion has rarely been reported, possibly because it is harder to detect, and an optimal chromosome preparation is required for its identification.

  18. Attenuation of monkeypox virus by deletion of genomic regions

    USGS Publications Warehouse

    Lopera, Juan G.; Falendysz, Elizabeth A.; Rocke, Tonie E.; Osorio, Jorge E.

    2015-01-01

    Monkeypox virus (MPXV) is an emerging pathogen from Africa that causes disease similar to smallpox. Two clades with different geographic distributions and virulence have been described. Here, we utilized bioinformatic tools to identify genomic regions in MPXV containing multiple virulence genes and explored their roles in pathogenicity; two selected regions were then deleted singularly or in combination. In vitro and in vivostudies indicated that these regions play a significant role in MPXV replication, tissue spread, and mortality in mice. Interestingly, while deletion of either region led to decreased virulence in mice, one region had no effect on in vitro replication. Deletion of both regions simultaneously also reduced cell culture replication and significantly increased the attenuation in vivo over either single deletion. Attenuated MPXV with genomic deletions present a safe and efficacious tool in the study of MPX pathogenesis and in the identification of genetic factors associated with virulence.

  19. Growth patterns of patients with 1p36 deletion syndrome.

    PubMed

    Sangu, Noriko; Shimojima, Keiko; Shimada, Shino; Ando, Tomohiro; Yamamoto, Toshiyuki

    2014-05-01

    1p36 deletion syndrome is one of the most common subtelomeric deletion syndromes. Obesity is frequently observed in patients with this syndrome. Thus, it is important to evaluate the growth status of an individual patient. For this purpose, we accumulated recorded growth data from 44 patients with this syndrome and investigated the growth patterns of patients. Most of the patients showed weight parameters within normal limits, whereas a few of these patients showed intrauterine growth delay and microcephaly. The length of the patients after birth was under the 50th centile in most patients. Many patients showed poor weight gain after birth, and only two female patients were overweight. These findings indicate two different phenotypes of the 1p36 deletion syndrome. The overweight patients with 1p36 deletion started excessive weight gain after two years of life. This characteristic of the patients with 1p36 deletion syndrome is similar to Prader-Willi syndrome.

  20. Efficient Management of Biomedical Ontology Versions

    NASA Astrophysics Data System (ADS)

    Kirsten, Toralf; Hartung, Michael; Groß, Anika; Rahm, Erhard

    Ontologies have become very popular in life sciences and other domains. They mostly undergo continuous changes and new ontology versions are frequently released. However, current analysis studies do not consider the ontology changes reflected in different versions but typically limit themselves to a specific ontology version which may quickly become obsolete. To allow applications easy access to different ontology versions we propose a central and uniform management of the versions of different biomedical ontologies. The proposed database approach takes concept and structural changes of succeeding ontology versions into account thereby supporting different kinds of change analysis. Furthermore, it is very space-efficient by avoiding redundant storage of ontology components which remain unchanged in different versions. We evaluate the storage requirements and query performance of the proposed approach for the Gene Ontology.

  1. Annotated bibliography of Software Engineering Laboratory literature

    NASA Technical Reports Server (NTRS)

    Morusiewicz, Linda; Valett, Jon

    1993-01-01

    This document is an annotated bibliography of technical papers, documents, and memorandums produced by or related to the Software Engineering Laboratory. Nearly 200 publications are summarized. These publications cover many areas of software engineering and range from research reports to software documentation. This document has been updated and reorganized substantially since the original version (SEL-82-006, November 1982). All materials have been grouped into eight general subject areas for easy reference: the Software Engineering Laboratory; the Software Engineering Laboratory: software development documents; software tools; software models; software measurement; technology evaluations; Ada technology; and data collection. This document contains an index of these publications classified by individual author.

  2. Stirling laboratory research engine survey report

    NASA Technical Reports Server (NTRS)

    Anderson, J. W.; Hoehn, F. W.

    1979-01-01

    As one step in expanding the knowledge relative to and accelerating the development of Stirling engines, NASA, through the Jet Propulsion Laboratory (JPL), is sponsoring a program which will lead to a versatile Stirling Laboratory Research Engine (SLRE). An objective of this program is to lay the groundwork for a commercial version of this engine. It is important to consider, at an early stage in the engine's development, the needs of the potential users so that the SLRE can support the requirements of educators and researchers in academic, industrial, and government laboratories. For this reason, a survey was performed, the results of which are described.

  3. Annotated bibliography of software engineering laboratory literature

    NASA Technical Reports Server (NTRS)

    Buhler, Melanie; Valett, Jon

    1989-01-01

    An annotated bibliography is presented of technical papers, documents, and memorandums produced by or related to the Software Engineering Laboratory. The bibliography was updated and reorganized substantially since the original version (SEL-82-006, November 1982). All materials were grouped into eight general subject areas for easy reference: (1) The Software Engineering Laboratory; (2) The Software Engineering Laboratory: Software Development Documents; (3) Software Tools; (4) Software Models; (5) Software Measurement; (6) Technology Evaluations; (7) Ada Technology; and (8) Data Collection. Subject and author indexes further classify these documents by specific topic and individual author.

  4. Annotated bibliography of software engineering laboratory literature

    NASA Technical Reports Server (NTRS)

    Groves, Paula; Valett, Jon

    1990-01-01

    An annotated bibliography of technical papers, documents, and memorandums produced by or related to the Software Engineering Laboratory is given. More than 100 publications are summarized. These publications cover many areas of software engineering and range from research reports to software documentation. This document has been updated and reorganized substantially since the original version (SEL-82-006, November 1982). All materials have been grouped into eight general subject areas for easy reference: the Software Engineering Laboratory; the Software Engineering Laboratory-software development documents; software tools; software models; software measurement; technology evaluations; Ada technology; and data collection. Subject and author indexes further classify these documents by specific topic and individual author.

  5. Version 4. 00 of the MINTEQ geochemical code

    SciTech Connect

    Eary, L.E.; Jenne, E.A.

    1992-09-01

    The MINTEQ code is a thermodynamic model that can be used to calculate solution equilibria for geochemical applications. Included in the MINTEQ code are formulations for ionic speciation, ion exchange, adsorption, solubility, redox, gas-phase equilibria, and the dissolution of finite amounts of specified solids. Since the initial development of the MINTEQ geochemical code, a number of undocumented versions of the source code and data files have come into use at the Pacific Northwest Laboratory (PNL). This report documents these changes, describes source code modifications made for the Aquifer Thermal Energy Storage (ATES) program, and provides comprehensive listings of the data files. A version number of 4.00 has been assigned to the MINTEQ source code and the individual data files described in this report.

  6. Version 4.00 of the MINTEQ geochemical code

    SciTech Connect

    Eary, L.E.; Jenne, E.A.

    1992-09-01

    The MINTEQ code is a thermodynamic model that can be used to calculate solution equilibria for geochemical applications. Included in the MINTEQ code are formulations for ionic speciation, ion exchange, adsorption, solubility, redox, gas-phase equilibria, and the dissolution of finite amounts of specified solids. Since the initial development of the MINTEQ geochemical code, a number of undocumented versions of the source code and data files have come into use at the Pacific Northwest Laboratory (PNL). This report documents these changes, describes source code modifications made for the Aquifer Thermal Energy Storage (ATES) program, and provides comprehensive listings of the data files. A version number of 4.00 has been assigned to the MINTEQ source code and the individual data files described in this report.

  7. MORSE: current status of the two Oak Ridge versions

    SciTech Connect

    Emmett, M. B.; West, J. T.

    1980-01-01

    There are two versions of the MORSE Monte Carlo radiation transport computer code system at Oak Ridge National Laboratory. MORSE-CG is the most well-known and has undergone extensive use for many years. Development of MORSE-SGC was originally begun in order to restructure the cross section handling and thereby save storage, but the more recent goal has been to incorporate some of the KENO ability to handle multiple arrays in the geometry and to improve on 3-D plotting capabilities. New capabilities recently added to MORSE-CG include a generalized form for a Klein Nishina estimator, a new version of BREESE, the albedo package, which now allows multiple albedo materials and a revised DOMINO which handles DOT-IV tapes.

  8. Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy.

    PubMed

    Marin-Garcia, J; Goldenthal, M J; Ananthakrishnan, R; Pierpont, M E; Fricker, F J; Lipshultz, S E; Perez-Atayde, A

    1996-02-01

    Structural changes in human mitochondrial DNA (mtDNA) have been implicated in a number of clinical conditions with dysfunctions in oxidative phosphorylation called OX-PHOS diseases, some of which have cardiac involvement. The objective of this study was to assess the frequency and extent of specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy. DNA extracted from tissue derived from the left ventricle of 41 patients with idiopathic dilated cardiomyopathy and 17 controls was amplified by polymerase chain reaction using specific primers to assess the incidence and proportion of 5-kb and 7.4-kb deletions in mitochondrial DNA. In reactions using primers to detect the 5-kb deletion, an amplified product of 593 bp was found in low abundance relative to undeleted mitochondrial DNA but with high frequency in a number of controls and patients. A second deletion of 7.4 kb in size was also frequently present in controls and patients. In contrast to previous reports, these deletions were found to be present in both controls and in cardiomyopathic patients, 18 years and younger, including several infants. The 7.4-kb deletion was prominently increased in both frequency and in its proportion relative to undeleted mitochondrial DNA in patients 40 years and older with idiopathic dilated cardiomyopathy. At variance with current literature our study reports a significant presence of both 5 and 7.4-kb deletions in the young and a higher frequency and quantity of the 7.4-kb deletion in the older cardiomyopathic patients in comparison with controls. The increased accumulation of the 7.4-kb deletion as both a function of aging and cardiomyopathy is suggestive that this specific mitochondrial DNA deletion arises more likely as an effect of heart dysfunction rather than as a primary cause of cardiomyopathy.

  9. Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

    PubMed Central

    Knight, Melanie A; Holtzclaw, Lynne A; Scholz, Sonja; Cookson, Mark R; Houlden, Henry; Gwinn-Hardy, Katrina; Fung, Hon-Chung; Lin, Xian; Hernandez, Dena; Simon-Sanchez, Javier; Wood, Nick W; Giunti, Paola; Rafferty, Ian; Hardy, John; Storey, Elsdon; Gardner, R. J. McKinlay; Forrest, Susan M; Fisher, Elizabeth M. C; Russell, James T; Cai, Huaibin; Singleton, Andrew B

    2007-01-01

    We observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the same locus. Through linkage and sequence analysis we show here that this disorder is caused by a homozygous in-frame 18-bp deletion in Itpr1 (Itpr1Δ18/Δ18), encoding inositol 1,4,5-triphosphate receptor 1. A previously reported spontaneous Itpr1 mutation in mice causes a phenotype identical to that observed here. In both models in-frame deletion within Itpr1 leads to a decrease in the normally high level of Itpr1 expression in cerebellar Purkinje cells. Spinocerebellar ataxia 15 (SCA15), a human autosomal dominant disorder, maps to the genomic region containing ITPR1; however, to date no causal mutations had been identified. Because ataxia is a prominent feature in Itpr1 mutant mice, we performed a series of experiments to test the hypothesis that mutation at ITPR1 may be the cause of SCA15. We show here that heterozygous deletion of the 5′ part of the ITPR1 gene, encompassing exons 1–10, 1–40, and 1–44 in three studied families, underlies SCA15 in humans. PMID:17590087

  10. Novel deletion in a patient with an isolated peroxisoml acyl-CoA oxidase deficiency

    SciTech Connect

    Poll-The, B.T.; Fournier, B.; Clevers, H.; Wanders, R.J.A.

    1994-09-01

    Disorders with defective peroxisome assembly are associated with multiple peroxisomal enzymatic abnormalities. Besides these diseases patients have been described suspected of having a single enzyme defect in the peroxisomal {beta}-oxidation pathway. Laboratory findings for these patients include elevated plasma very long chain fatty acids (VLCFA) and impaired VLCFA oxidation in fibroblasts. Complementation analysis between these patients and those with a proven single enzyme deficiency, using peroxisomal {beta}-oxidation of VLCFA as the criterion for complementation, has been used to show whether the patients are deficient in acyl-CoA oxidase, peroxisomal trifunctional protein or thiolase activity. Fibroblasts from a patient showing the clinical and biochemical abnormalities of isolated acyl-CoA oxidase deficiency (using cell complementation) were analyzed at the molecular level. Isolation of RNA from patient`s fibroblasts was followed by random reverse transcription of RNA and PCR amplification. PCR products were blotted and hybridized with the human acyl-CoA oxidase cDNA. A fragment 150 bp shorter than normal was found. Upon sequencing, exon 7 was found to be deleted leading to a frameshift in the acyl-CoA oxidase mRNA. Southern blot analysis of the patient`s DNA did not reveal any deletion in contrast to two siblings previously reported as having a deletion of at least 17 kb in the acyl-CoA oxidase gene.

  11. GSF2 deletion increases lactic acid production by alleviating glucose repression in Saccharomyces cerevisiae

    PubMed Central

    Baek, Seung-Ho; Kwon, Eunice Y.; Kim, Seon-Young; Hahn, Ji-Sook

    2016-01-01

    Improving lactic acid (LA) tolerance is important for cost-effective microbial production of LA under acidic fermentation conditions. Previously, we generated LA-tolerant D-LA-producing S. cerevisiae strain JHY5310 by laboratory adaptive evolution of JHY5210. In this study, we performed whole genome sequencing of JHY5310, identifying four loss-of-function mutations in GSF2, SYN8, STM1, and SIF2 genes, which are responsible for the LA tolerance of JHY5310. Among the mutations, a nonsense mutation in GSF2 was identified as the major contributor to the improved LA tolerance and LA production in JHY5310. Deletion of GSF2 in the parental strain JHY5210 significantly improved glucose uptake and D-LA production levels, while derepressing glucose-repressed genes including genes involved in the respiratory pathway. Therefore, more efficient generation of ATP and NAD+ via respiration might rescue the growth defects of the LA-producing strain, where ATP depletion through extensive export of lactate and proton is one of major reasons for the impaired growth. Accordingly, alleviation of glucose repression by deleting MIG1 or HXK2 in JHY5210 also improved D-LA production. GSF2 deletion could be applied to various bioprocesses where increasing biomass yield or respiratory flux is desirable. PMID:27708428

  12. Deletions, duplications and transpositions of the COR segment that encompasses the structural gene of yeast iso-1-cytochrome c

    SciTech Connect

    Stiles, J.I.; Friedman, L.R.; Sherman, F.

    1980-01-01

    It has been recently found that a specific chromosomal segment, in certain but not all laboratory strains of Saccharomyces cerevisiae, is deleted and transposed at high frequencies. This segment, denoted COR, encompasses the three closely linked loci CYC1, OSM1 and RAD7 which control iso-1-cytochrome c, osmotic sensitivity and UV-sensitivity, respectively. Two types of apparently normal laboratory strains of yeast designated COR1 and COR2, were uncovered after the examination of the frequencies and types of mutations causing either deficiencies or overproduction of iso-1-cytochrome c; in contrast to COR1 strains which give predominantly point mutations causing deficiencies of iso-1-cytochrome c, COR2 strains give rise to deletions and transpositions of the COR segment. We have undertaken a systematic investigation of the physical structure and genetic properties of the COR region and of the aberrations arising in COR2 strains.

  13. "Oops, I deleted it"--a solution for recovering deleted or reformatted digital images from memory cards.

    PubMed

    Revankar, Ameet V; Gandedkar, Narayan H; Ganeshkar, Sanjay V

    2009-06-01

    Capturing patient photographs on digital flash cards rather than film has several advantages, but also a few disadvantages. Among the latter, the primary disadvantage is the possibility of accidentally deleting or corruping the files before they are downloaded from the memory card. In this article, we describe utilities that enable image recovery from deleted, reformatted, or physically damaged flash memory cards.

  14. 'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome.

    PubMed

    Johnson, J P; Haag, M; Beischel, L; McCann, C; Phillips, S; Tunby, M; Hansen, J; Schwanke, C; Reynolds, J F

    2014-04-01

    We describe a family with recurrent 11q23-qter deletion Jacobsen syndrome in two affected brothers, with unique mosaic deletion 'rescue' through development of uniparental disomy (UPD) in the mother and one of the brothers. Inheritance studies show that the deleted chromosome is of maternal origin in both boys, and microarray shows a break near the ASAM gene. Parental lymphocyte chromosomes were normal. However, the mother is homozygous in lymphocytes for all loci within the deleted region in her sons, and presumably has UPD for this region. In addition, she is mosaic for the 11q deletion seen in her sons at a level of 20-30% in skin fibroblasts. We hypothesize that one of her #11 chromosomes shows fragility, that breakage at 11q23 occurred with telomeric loss in some cells, but 'rescue' from the deletion occurred in most cells by the development of mitotic UPD. She apparently carries the 11q deletion in her germ line resulting in recurrence of the syndrome. The older son is mosaic for the 11q cell line (70-88%, remainder 46,XY), and segmental UPD11 'rescue' apparently also occurred in his cytogenetically normal cells. This is a novel phenomenon restoring disomy to an individual with a chromosomal deletion.

  15. Laboratory investigations

    NASA Technical Reports Server (NTRS)

    Russell, Ray W.

    1988-01-01

    Laboratory studies related to cometary grains and the nuclei of comets can be broken down into three areas which relate to understanding the spectral properties, the formation mechanisms, and the evolution of grains and nuclei: (1) Spectral studies to be used in the interpretation of cometary spectra; (2) Sample preparation experiments which may shed light on the physical nature and history of cometary grains and nuclei by exploring the effects on grain emissivities resulting from the ways in which the samples are created; and (3) Grain processing experiments which should provide insight on the interaction of cometary grains with the environment in the immediate vicinity of the cometary nucleus as the comet travels from the Oort cloud through perihelion, and perhaps even suggestions regarding the relationship between interstellar grains and cometary matter. A summary is presented with a different view of lab experiments than is found in the literature, concentrating on measurement techniques and sample preparations especially relevant to cometary dust.

  16. ACE insert/delete polymorphism and atherosclerosis.

    PubMed

    Scheer, W Douglas; Boudreau, Donald A; Hixson, James E; McGill, Henry C; Newman, William P; Tracy, Richard E; Zieske, Arthur W; Strong, Jack P

    2005-02-01

    We report on the results of a large autopsy study focusing upon the hypothesis that deletion of the Alu insert in the angiotensin converting enzyme (ACE) gene is associated with: (a) greater prevalence or extent of atherosclerosis in the aorta and coronary arteries; and (b) microscopic qualities of established atherosclerotic plaques in the coronary arteries. This study was conducted in young US black (n=290) and white (n=379) males using available materials and data from the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) study, a multi-center cooperative autopsy study organized in 1985 to explore the relationships of known cardiovascular risk factors to atherosclerosis in victims of accidents, homicides, or suicides in the age range of 15-34 years. The results provide strong evidence that ACE genotype may not be a predictor of either the prevalence or the extent of the lesions of atherosclerosis in the right coronary artery or the aorta of young adults, an observation that confirms previous studies that estimated the prevalence and extent of atherosclerosis using coronary angiography. In addition, the results suggest that ACE genotype does not contribute to the formation of atherosclerotic lesions that have the characteristics of vulnerable plaques in the left anterior descending coronary artery of young adults.

  17. Tau deletion promotes brain insulin resistance

    PubMed Central

    Marciniak, Elodie; Leboucher, Antoine; Caron, Emilie; Ahmed, Tariq; Tailleux, Anne; Dumont, Julie; Issad, Tarik; Gerhardt, Ellen; Pagesy, Patrick; Vileno, Margaux; Hamdane, Malika; Bantubungi, Kadiombo; Lancel, Steve; Demeyer, Dominique; Eddarkaoui, Sabiha; Vallez, Emmanuelle; Vieau, Didier; Humez, Sandrine; Faivre, Emilie; Grenier-Boley, Benjamin; Outeiro, Tiago F.; Amouyel, Philippe; Balschun, Detlef

    2017-01-01

    The molecular pathways underlying tau pathology–induced synaptic/cognitive deficits and neurodegeneration are poorly understood. One prevalent hypothesis is that hyperphosphorylation, misfolding, and fibrillization of tau impair synaptic plasticity and cause degeneration. However, tau pathology may also result in the loss of specific physiological tau functions, which are largely unknown but could contribute to neuronal dysfunction. In the present study, we uncovered a novel function of tau in its ability to regulate brain insulin signaling. We found that tau deletion leads to an impaired hippocampal response to insulin, caused by altered IRS-1 and PTEN (phosphatase and tensin homologue on chromosome 10) activities. Our data also demonstrate that tau knockout mice exhibit an impaired hypothalamic anorexigenic effect of insulin that is associated with energy metabolism alterations. Consistently, we found that tau haplotypes are associated with glycemic traits in humans. The present data have far-reaching clinical implications and raise the hypothesis that pathophysiological tau loss-of-function favors brain insulin resistance, which is instrumental for cognitive and metabolic impairments in Alzheimer’s disease patients. PMID:28652303

  18. Science Laboratory Learning Environments in Junior Secondary Schools

    ERIC Educational Resources Information Center

    Kwok, Ping Wai

    2015-01-01

    A Chinese version of the Science Laboratory Environment Inventory (SLEI) was used to study the students' perceptions of the actual and preferred laboratory learning environments in Hong Kong junior secondary science lessons. Valid responses of the SLEI from 1932 students of grade 7 to grade 9 indicated that an open-ended inquiry approach seldom…

  19. Science Laboratory Learning Environments in Junior Secondary Schools

    ERIC Educational Resources Information Center

    Kwok, Ping Wai

    2015-01-01

    A Chinese version of the Science Laboratory Environment Inventory (SLEI) was used to study the students' perceptions of the actual and preferred laboratory learning environments in Hong Kong junior secondary science lessons. Valid responses of the SLEI from 1932 students of grade 7 to grade 9 indicated that an open-ended inquiry approach seldom…

  20. CASPER Version 2.0

    NASA Technical Reports Server (NTRS)

    Chien, Steve; Rabideau, Gregg; Tran, Daniel; Knight, Russell; Chouinard, Caroline; Estlin, Tara; Gaines, Daniel; Clement, Bradley; Barrett, Anthony

    2007-01-01

    CASPER is designed to perform automated planning of interdependent activities within a system subject to requirements, constraints, and limitations on resources. In contradistinction to the traditional concept of batch planning followed by execution, CASPER implements a concept of continuous planning and replanning in response to unanticipated changes (including failures), integrated with execution. Improvements over other, similar software that have been incorporated into CASPER version 2.0 include an enhanced executable interface to facilitate integration with a wide range of execution software systems and supporting software libraries; features to support execution while reasoning about urgency, importance, and impending deadlines; features that enable accommodation to a wide range of computing environments that include various central processing units and random- access-memory capacities; and improved generic time-server and time-control features.

  1. EnergyPlus Version 6

    SciTech Connect

    2011-01-14

    EnergyPlus is a whole building energy simulation program that engineers, architects, and researchers use to model energy and water use in buildings. Modeling the performance of a building with EnergyPlus enables building professionals to optimize the building design to use less energy and water. Each version of EnergyPlus is tested extensively before release. EnergyPlus models heating, cooling, lighting, ventilation, other energy flows, and water use. EnergyPlus includes many innovative simulation capabilities: time-steps less than an hour, modular systems and plant integrated with heat balance-based zone simulation, multizone air flow, thermal comfort, water use, natural ventilation, and photovoltaic systems. Read about new features. EnergyPlus runs on the Windows, Macintosh, and Linux platforms. Free add-ons and other third-party software products are available for use with EnergyPlus.

  2. EnergyPlus Version 7

    SciTech Connect

    Wetter, Michael

    2011-11-01

    EnergyPlus is a whole building energy simulation program that engineers, architects and researchers use to model energy and water use in buildings. Modeling the performance of a building with EnergyPlus enables building professionals to optimize the building design to use less energy and water. Each version of EnergyPlus is tested extensively before release. EnergyPlus models heating, cooling, lighting, ventilation, other energy flows, and water use. EnergyPlus includes many innovation simulation capabilities: time-steps less than an hour, modular systems and plant integrated with heat balance-based zone simulation, multizone air flow, thermal comfort, water use, natural ventilation, and photovoltaic systems. EnergyPlus runs on the Windows, Macintosh, and Linux platforms. Free add-ons and other third party software products are available for use with EnergyPlus.

  3. GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.

    PubMed

    Hall, Patricia L; Laine, Regina; Alexander, John J; Ankala, Arunkanth; Teot, Lisa A; Lidov, Hart G W; Anselm, Irina

    2017-05-25

    GM2 activator (GM2A) deficiency (OMIM 613109) is a rare lysosomal storage disorder, with onset typically in infancy or early childhood. Clinically, it is almost indistinguishable from Tay-Sachs disease (OMIM 272800) or Sandhoff disease (OMIM 268800); however, traditionally available biochemical screening tests will most likely reveal normal results. We report a 2-year-old male with initially normal development until the age of 9 months, when he presented with developmental delay and regression. Workup at that time was unrevealing; at 15 months, he had abnormal brain MRI findings and a cherry red spot on ophthalmological examination. Family history and all laboratory studies were uninformative. The combination of a cherry red spot and developmental regression was strongly suggestive of a lysosomal storage disorder. Sequence analysis of GM2A did not reveal any pathogenic variants; however, exon 2 of GM2A could not be amplified by PCR, raising suspicion for a large, homozygous deletion. Subsequent copy number analysis confirmed a homozygous deletion of exon 2 in GM2A. This is the first reported case of GM2A deficiency being caused by a whole exon deletion. We describe previously unreported electron microscopy findings in this disease, thus expanding the clinical and variant spectrum for GM2 activator deficiency. These findings demonstrate the increased degree of suspicion required for diagnosis of this rare disorder. Brief Summary: This case of GM2 activator deficiency was caused by a homozygous deletion in GM2A, demonstrating the need to include exon level copy number analysis in any workup to fully exclude this disorder.

  4. Adenovirus mediated homozygous endometrial epithelial Pten deletion results in aggressive endometrial carcinoma

    SciTech Connect

    Joshi, Ayesha; Ellenson, Lora Hedrick

    2011-07-01

    Pten is the most frequently mutated gene in uterine endometriod carcinoma (UEC) and its precursor complex atypical hyperplasia (CAH). Because the mutation frequency is similar in CAH and UEC, Pten mutations are thought to occur relatively early in endometrial tumorigenesis. Previous work from our laboratory using the Pten{sup +/-} mouse model has demonstrated somatic inactivation of the wild type allele of Pten in both CAH and UEC. In the present study, we injected adenoviruses expressing Cre into the uterine lumen of adult Pten floxed mice in an attempt to somatically delete both alleles of Pten specifically in the endometrium. Our results demonstrate that biallelic inactivation of Pten results in an increased incidence of carcinoma as compared to the Pten{sup +/-} mouse model. In addition, the carcinomas were more aggressive with extension beyond the uterus into adjacent tissues and were associated with decreased expression of nuclear ER{alpha} as compared to associated CAH. Primary cultures of epithelial and stromal cells were prepared from uteri of Pten floxed mice and Pten was deleted in vitro using Cre expressing adenovirus. Pten deletion was evident in both the epithelial and stromal cells and the treatment of the primary cultures with estrogen had different effects on Akt activation as well as Cyclin D3 expression in the two purified components. This study demonstrates that somatic biallelic inactivation of Pten in endometrial epithelium in vivo results in an increased incidence and aggressiveness of endometrial carcinoma compared to mice carrying a germline deletion of one allele and provides an important in vivo and in vitro model system for understanding the genetic underpinnings of endometrial carcinoma.

  5. HbA2 levels in β-thalassaemia carriers with the Filipino β0-deletion: are the levels higher than what is found with non-deletional forms of β0-thalassaemia?

    PubMed

    George, E; Teh, Lai Kuan; Tan, Jama; Lai, Mei I; Wong, Lily

    2013-01-01

    Classical carriers of β-thalassaemia are identified by a raised HbA2 level. Earlier studies indicated that the Filipino β-deletion has high raised HbA2 levels. The introduction of automated high performance liquid chromatography (HPLC) for thalassaemia screening is an important advance in technology for haematology laboratories. The BioRad Variant II Hb analyser is a common instrument used to quantify HbA2 levels in thalassaemia screening. This study aimed to determine HbA2 levels in carriers of Filipino β-mutation using the BioRad Variant II Hb analyser. The Filipino β-deletion was identified using gap-polymerase chain reaction (PCR) in the parents of transfusion dependent β-thalassaemia patients who were homozygous for the Filipino β-deletion in the indigenous population of Sabah, Malaysia. Hb subtypes were quantified on the BioRad Variant II Hb analyser. Concurrent α-thalassaemia was identified by multiplex gap-PCR for deletions and amplification refractory mutation system (ARMS)-PCR for non-deletional mutations. The mean HbA2 level for Filipino β-thalassaemia trait was 5.9 ± 0.47 and with coinheritance of α-thalassaemia was 6.3 ± 0.44 (-α heterozygous) and 6.7 ± 0.36 (-α homozygous). The HbA2 levels were all >4% in keeping with the findings of classical β-thalassaemia trait and significantly higher than levels seen in non-deletional forms of β-thalassaemia. The HbA2 level measured on the BioRad Variant II Hb analyser was lower than the level in the first description of the Filipino β-thalassaemia. β-thalassaemia trait with coinheritance of α-thalassaemia (-α) is associated with significantly higher HbA2 level.

  6. 75 FR 21244 - Procurement List; Proposed Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-04-23

    ..., 2009, 7-hole. NSN: 7530-01-537-7805--DAYMAX System, GLE, 2009, Black. NSN: 7530-01-537-7827--DAYMAX...-0095--JR Deluxe Version TMS, Black. Executive/Personal Time Management System NSN: 7530-01-537-7818L--DAYMAX System, JR Version, 2009, Black w/ Logo. NSN: 7530-01-537-7819L--DAYMAX System, JR Version,...

  7. The HLA-G 14-base pair deletion allele and the deletion/deletion genotype are associated with persistent HBe antigenemia in chronic hepatis B infection.

    PubMed

    Ferreira, Sandro da Costa; Chachá, Silvana Gama Florêncio; Souza, Fernanda Fernandes; Teixeira, Andreza Corrêa; Santana, Rodrigo de Carvalho; Deghaide, Neifi Hassan Saloun; Rodrigues, Sandra; Marano, Leonardo A; Mendes-Junior, Celso Teixeira; Ramalho, Leandra Naira Zambelli; Zucoloto, Sérgio; Donadi, Eduardo Antônio; Martinelli, Ana de Lourdes Candolo

    2017-02-01

    HLA-G has well-recognized immunomodulatory properties, and this molecule is frequently expressed in the livers of hepatitis B virus (HBV)-infected patients. Because the HLA-G 14 bp-insertion/deletion polymorphism (rs371194629) has been associated with the magnitude of HLA-G expression, we evaluated this polymorphism in the recognized evolutionary forms of chronic HBV infection. We studied 196 chronic HBV-infected patients (118 HBeAg-negative chronic hepatitis, 53 HBeAg-positive chronic hepatitis and 25 inactive carriers exhibiting low levels of serum HBVDNA and persistently normal ALT levels), and 202 healthy individuals. Chronic hepatitis HLA-G typing was performed using PCR-amplified DNA hybridized with specific primers. The frequencies of the insertion/deletion alleles and genotypes were very similar in patients and controls. After patient stratification according to the evolutionary form of the chronic HBV infection, the frequencies of the deletion allele (P=0.0460; OR=1.26; 95%CI=1.01-1.45) and of the deletion/deletion genotype (P=0.0356; OR=2.08; 95%CI=1.05-4.09) were overrepresented in HBeAg-positive patients when compared to HBeAg-negative patients. No differences were observed when HBV inactive carriers were compared to HBeAg-negative chronic hepatitis patients. Because the 14-bp deletion allele has been associated with increased HLA-G production and because HLA-G may down regulate the cytotoxic activity of TCD8 and NK cells, patients exhibiting the 14-bp deletion allele at single or double doses are at increased risk for developing chronic forms of HBV associated with persistent viremia and worse prognoses. Copyright © 2017 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  8. Molecular characterization of patients with 18q23 deletions.

    PubMed Central

    Strathdee, G; Sutherland, R; Jonsson, J J; Sataloff, R; Kohonen-Corish, M; Grady, D; Overhauser, J

    1997-01-01

    The 18q- syndrome is a deletion syndrome that is characterized by mental retardation, hearing loss, midfacial hypoplasia, growth deficiency, and limb anomalies. Most patients with this syndrome have deletions from 18q21-qter. We report on three patients with deletions of 18q23. A mother and daughter with identical deletions of 18q23 have many of the typical features of the 18q- syndrome, including midfacial hypoplasia and hearing loss. In contrast, the third patient has few of the symptoms of the 18q- syndrome. A contig of the 18q23 region was generated to aid in the mapping of the breakpoints. FISH was used to map both breakpoints to the same YAC clone. Furthermore, somatic-cell hybrids from the daughter and the third patient were isolated. The mapping results of sequence-tagged sites relative to the two breakpoints were identical, suggesting that the two deletion breakpoints map very close to one another. The analyses of these patients demonstrate that the critical region for the 18q- syndrome maps to 18q23 but that a deletion of 18q23 does not always lead to the clinical features associated with the syndrome. These patients demonstrate the wide phenotypic variability associated with deletions of 18q. Images Figure 2 Figure 3 PMID:9106532

  9. Recurrent deletions of IKZF1 in pediatric acute myeloid leukemia

    PubMed Central

    de Rooij, Jasmijn D.E.; Beuling, Eva; van den Heuvel-Eibrink, Marry M.; Obulkasim, Askar; Baruchel, André; Trka, Jan; Reinhardt, Dirk; Sonneveld, Edwin; Gibson, Brenda E.S.; Pieters, Rob; Zimmermann, Martin; Zwaan, C. Michel; Fornerod, Maarten

    2015-01-01

    IKAROS family zinc finger 1/IKZF1 is a transcription factor important in lymphoid differentiation, and a known tumor suppressor in acute lymphoid leukemia. Recent studies suggest that IKZF1 is also involved in myeloid differentiation. To investigate whether IKZF1 deletions also play a role in pediatric acute myeloid leukemia, we screened a panel of pediatric acute myeloid leukemia samples for deletions of the IKZF1 locus using multiplex ligation-dependent probe amplification and for mutations using direct sequencing. Three patients were identified with a single amino acid variant without change of IKZF1 length. No frame-shift mutations were found. Out of 11 patients with an IKZF1 deletion, 8 samples revealed a complete loss of chromosome 7, and 3 cases a focal deletion of 0.1–0.9Mb. These deletions included the complete IKZF1 gene (n=2) or exons 1–4 (n=1), all leading to a loss of IKZF1 function. Interestingly, differentially expressed genes in monosomy 7 cases (n=8) when compared to non-deleted samples (n=247) significantly correlated with gene expression changes in focal IKZF1-deleted cases (n=3). Genes with increased expression included genes involved in myeloid cell self-renewal and cell cycle, and a significant portion of GATA target genes and GATA factors. Together, these results suggest that loss of IKZF1 is recurrent in pediatric acute myeloid leukemia and might be a determinant of oncogenesis in acute myeloid leukemia with monosomy 7 PMID:26069293

  10. Do listeners recover "deleted" final /t/ in German?

    PubMed

    Zimmerer, Frank; Reetz, Henning

    2014-01-01

    Reduction and deletion processes occur regularly in conversational speech. A segment that is affected by such reduction and deletion processes in many Germanic languages (e.g., Dutch, English, German) is /t/. There are similarities concerning the factors that influence the likelihood of final /t/ to get deleted, such as segmental context. However, speakers of different languages differ with respect to the acoustic cues they leave in the speech signal when they delete final /t/. German speakers usually lengthen a preceding /s/ when they delete final /t/. This article investigates to what extent German listeners are able to reconstruct /t/ when they are presented with fragments of words where final /t/ has been deleted. It aims also at investigating whether the strategies that are used by German depend on the length of /s/, and therefore whether listeners are using language-specific cues. Results of a forced-choice segment detection task suggest that listeners are able to reconstruct deleted final /t/ in about 45% of the times. The length of /s/ plays some role in the reconstruction, however, it does not explain the behavior of German listeners completely.

  11. Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4.

    PubMed

    Millson, Alison; Lewis, Tracey; Pesaran, Tina; Salvador, David; Gillespie, Katrina; Gau, Chia-Ling; Pont-Kingdon, Genevieve; Lyon, Elaine; Bayrak-Toydemir, Pinar

    2015-09-01

    Mutations in SMAD4 have been associated with juvenile polyposis syndrome and combined juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome. SMAD4 is part of the SMAD gene family. To date, there has been no report in the literature of a SMAD4 pseudogene. An unusual SMAD4 duplication pattern was seen in multiple patient samples using two different duplication/deletion platforms: multiplex ligation-dependent probe amplification and chromosomal microarray. Follow-up confirmatory testing included real-time quantitative PCR and sequencing of an exon/exon junction, all results leading to the conclusion of the existence of a processed pseudogene. Examination of clinical results from two laboratories found a frequency of 0.26% (12 in 4672 cases) for this processed pseudogene. This is the first report of the presence of a processed pseudogene for SMAD4. We believe that knowledge of its existence is important for accurate interpretation of clinical diagnostic test results and for new assay designs. This study also indicates how a processed pseudogene may confound quantitative results, dependent on placement of probes and/or primers in a particular assay design, potentially leading to both false-positive and false-negative results. We also found that the SMAD4 processed pseudogene affects next-generation sequencing results by confounding the alignment of the sequences, resulting in erroneous variant calls. We recommend Sanger sequencing confirmation for SMAD4 variants. Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  12. Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility.

    PubMed

    Zhang, Yuening; Li, Muyan; Xiao, Feifan; Teng, Ruobing; Zhang, Chengdong; Lan, Aihua; Gu, Kailong; Li, Jiatong; Wang, Di; Li, Hongtao; Jiang, Li; Zeng, Siping; He, Min; Huang, Yi; Guo, Peifen; Zhang, Xinhua; Yang, Xiaoli

    2015-10-15

    This study aims to investigate the effect of the partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility through a comprehensive literature search. All case-control studies related to partial DAZ1/2 and DAZ3/4 deletions and male infertility risk were included in our study. Odd ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of the association and its precision, respectively. Eleven partial DAZ1/2 deletion and nine partial DAZ3/4 deletion studies were included. Partial DAZ1/2 deletion was significantly associated with male infertility risk in the overall analysis (ORs=2.58, 95%CI: 1.60-4.18, I(2)=62.1%). Moreover, in the subgroup analysis stratified by ethnicity, partial DAZ1/2 deletion was significantly associated with male infertility risk in the East Asian populations under the random effect model (ORs=2.96, 95%CI: 1.87-4.71, I(2)=51.3%). Meanwhile, the analysis suggested that partial DAZ3/4 deletion was not associated with male infertility risk in East-Asian ethnicity (ORs=1.02, 95%CI: 0.54-1.92, I(2)=71.3%), but not in Non-East Asian under the random effect model (ORs=3.56, 95%CI: 1.13-11.23, I(2)=0.0%,). More interestingly, partial DAZ1/2 deletion was associated with azoospermia (ORs=2.63, 95%CI: 1.19-5.81, I(2)=64.7%) and oligozoospermia (ORs=2.53, 95%CI: 1.40-4.57, I(2)=51.8%), but partial DAZ3/4 deletion was not associated with azoospermia (ORs=0.71, 95%CI: 0.23-2.22, I(2)=71.7%,) and oligozoospermia (ORs=1.21, 95%CI: 0.65-2.24, I(2)=55.5%). In our meta-analysis, partial DAZ1/2 deletion is a risk factor for male infertility and different ethnicities have different influences, whereas partial DAZ3/4 deletion has no effect on fertility but partial DAZ3/4 deletion might have an impact on Non-East Asian male.

  13. Solid Waste Projection Model: Database (Version 1. 3)

    SciTech Connect

    Blackburn, C.L.

    1991-11-01

    The Solid Waste Projection Model (SWPM) system is an analytical tool developed by Pacific Northwest Laboratory (PNL) for Westinghouse Hanford Company (WHC). The SWPM system provides a modeling and analysis environment that supports decisions in the process of evaluating various solid waste management alternatives. This document, one of a series describing the SWPM system, contains detailed information regarding the software and data structures utilized in developing the SWPM Version 1.3 Database. This document is intended for use by experienced database specialists and supports database maintenance, utility development, and database enhancement.

  14. Multimedia Fluid Mechanics - Multilingual Version CD-ROM

    NASA Astrophysics Data System (ADS)

    Homsy, G. M.; Aref, H.; Breuer, K. S.; Hochgreb, S.; Koseff, J. R.; Munson, B. R.; Powell, K. G.; Robertson, C. R.; Thoroddsen, S. T.

    2004-07-01

    This CD-ROM offers an interactive tool for teaching undergraduate fluid mechanics. It features experiments that demonstrate fluid mechanical phenomena, animations of important principles and concepts, virtual laboratories in which students acquire data from the images, interactive computational exercises in which parameters can be varied, and other descriptive and illuminating material on applications. The material may be accessed randomly through a hyperlinked text, a search engine, a video library, and a glossary of terms. The new edition has been thoroughly updated and includes versions in English, Spanish and French.

  15. HST archive primer, version 4.1

    NASA Technical Reports Server (NTRS)

    Fruchter, A. (Editor); Baum, S. (Editor)

    1994-01-01

    This version of the HST Archive Primer provides the basic information a user needs to know to access the HST archive via StarView the new user interface to the archive. Using StarView, users can search for observations interest, find calibration reference files, and retrieve data from the archive. Both the terminal version of StarView and the X-windows version feature a name resolver which simplifies searches of the HST archive based on target name. In addition, the X-windows version of StarView allows preview of all public HST data; compressed versions of public images are displayed via SAOIMAGE, while spectra are plotted using the public plotting package, XMGR. Finally, the version of StarView described here features screens designed for observers preparing Cycle 5 HST proposals.

  16. De Novo STX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases

    PubMed Central

    Turan, Serap; Ignatius, Jaakko; Moilanen, Jukka S.; Kuismin, Outi; Stewart, Helen; Mann, Nicholas P.; Linglart, Agnès; Bastepe, Murat

    2012-01-01

    Context: Maternally inherited 3-kb STX16 deletions cause autosomal dominant pseudohypoparathyroidism type Ib (PHP-Ib) characterized by PTH resistance with loss of methylation restricted to the GNAS exon A/B. Objective: The objective of the study was to search for the 3-kb STX16 deletion and to establish haplotypes for the GNAS region for two PHP-Ib patients and their families. Setting: The study was conducted at a research laboratory and tertiary care hospitals. Patients: The index cases presented at the ages 8 and 9.5 yr, respectively, with hypocalcemia, hyperphosphatemia, and elevated PTH. Interventions: There were no interventions. Results: DNA analyses of the index cases revealed an isolated loss of the GNAS exon A/B methylation and the 3-kb STX16 deletion. In the first family, the patient's healthy mother and sister showed no genetic or epigenetic abnormality, yet microsatellite analysis of the GNAS region indicated that both siblings share the same maternal allele, with the exception of an allelic loss for marker 261P9-CA1 (located within STX16), leading to the conclusion that a de novo mutation had occurred on the maternal allele. In the second family, three siblings of the index case are also affected, and an analysis of their DNA revealed the 3-kb STX16 deletion, which was also found in the healthy mother and a maternal uncle. Analysis of the siblings of the deceased maternal grandfather and some of their descendants excluded the 3-kb STX16 deletion, but haplotype analysis of the GNAS region suggested that he had acquired the mutation de novo. Conclusions: De novo 3-kb STX16 deletions, reported only once previously, are infrequent but should be excluded in all cases of PHP-Ib, even when the family history is negative for an inherited form of this disorder. PMID:23087324

  17. Detection of genomic deletions in rice using oligonucleotide microarrays

    PubMed Central

    Bruce, Myron; Hess, Ann; Bai, Jianfa; Mauleon, Ramil; Diaz, M Genaleen; Sugiyama, Nobuko; Bordeos, Alicia; Wang, Guo-Liang; Leung, Hei; Leach, Jan E

    2009-01-01

    Background The induction of genomic deletions by physical- or chemical- agents is an easy and inexpensive means to generate a genome-saturating collection of mutations. Different mutagens can be selected to ensure a mutant collection with a range of deletion sizes. This would allow identification of mutations in single genes or, alternatively, a deleted group of genes that might collectively govern a trait (e.g., quantitative trait loci, QTL). However, deletion mutants have not been widely used in functional genomics, because the mutated genes are not tagged and therefore, difficult to identify. Here, we present a microarray-based approach to identify deleted genomic regions in rice mutants selected from a large collection generated by gamma ray or fast neutron treatment. Our study focuses not only on the utility of this method for forward genetics, but also its potential as a reverse genetics tool through accumulation of hybridization data for a collection of deletion mutants harboring multiple genetic lesions. Results We demonstrate that hybridization of labeled genomic DNA directly onto the Affymetrix Rice GeneChip® allows rapid localization of deleted regions in rice mutants. Deletions ranged in size from one gene model to ~500 kb and were predicted on all 12 rice chromosomes. The utility of the technique as a tool in forward genetics was demonstrated in combination with an allelic series of mutants to rapidly narrow the genomic region, and eventually identify a candidate gene responsible for a lesion mimic phenotype. Finally, the positions of mutations in 14 mutants were aligned onto the rice pseudomolecules in a user-friendly genome browser to allow for rapid identification of untagged mutations . Conclusion We demonstrate the utility of oligonucleotide arrays to discover deleted genes in rice. The density and distribution of deletions suggests the feasibility of a database saturated with deletions across the rice genome. This community resource can continue

  18. Performance of quantum cloning and deleting machines over coherence

    NASA Astrophysics Data System (ADS)

    Karmakar, Sumana; Sen, Ajoy; Sarkar, Debasis

    2017-10-01

    Coherence, being at the heart of interference phenomena, is found to be an useful resource in quantum information theory. Here we want to understand quantum coherence under the combination of two fundamentally dual processes, viz., cloning and deleting. We found the role of quantum cloning and deletion machines with the consumption and generation of quantum coherence. We establish cloning as a cohering process and deletion as a decohering process. Fidelity of the process will be shown to have connection with coherence generation and consumption of the processes.

  19. Ectrodactyly and proximal/intermediate interstitial deletion 7q

    SciTech Connect

    McElveen, C.; Carvajal, M.V.; Moscatello, D.

    1995-03-13

    We report on an individual with severe mental retardation, seizures, microcephaly, unusual face, scoliosis, and cleft feet and cleft right hand. The chromosomal study showed a proximal interstitial deletion 7q (q11.23q22). From our review of the literature, 11 patients have been reported with ectrodactyly (split hand/split foot malformation) and proximal/intermediate interstitial deletions or rearrangements of 7q. The critical segment for ectrodactyly seems to be located between 7q21.2 and 7q22.1. This malformation is present in 41% of the patients whose deletion involves the critical segment. 37 refs., 3 figs., 1 tab.

  20. 22q11.2 deletion syndrome

    PubMed Central

    McDonald-McGinn, Donna M.; Sullivan, Kathleen E.; Marino, Bruno; Philip, Nicole; Swillen, Ann; Vorstman, Jacob A. S.; Zackai, Elaine H.; Emanuel, Beverly S.; Vermeesch, Joris R.; Morrow, Bernice E.; Scambler, Peter J.; Bassett, Anne S.

    2016-01-01

    22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population. PMID:27189754

  1. Writing Formal Physics Laboratory Reports During Laboratory Period

    NASA Astrophysics Data System (ADS)

    Aurora, Tarlok S.

    2003-03-01

    Physics is a required, two-semester sequence of courses at USIP. During a semester, students performed twelve physics experiments, and wrote three formal lab reports at home. This year, the number of experiments has been reduced by three, and these laboratory periods are used for writing formal reports. During these lab periods, students write, by hand, individual complete reports (including graphs, tables etc.) based on their lab notes under the supervision of a laboratory instructor. Students may seek help from the instructor, but not from one another. The draft reports are initialed. The following week, students submit the same hand-written report along with a typed (word-processing/spreadsheet) version for grading. These two versions must be substantially the same. The physics department has posted a sample lab report (on an experiment that is not done in the course) on the "Blackboard" software for guidance. The results of this approach to report writing will be discussed. Acknowledgments: The author wishes to thank Drs. B. J. Brunner and Stanley Zietz for useful discussions and encouragement to implement this idea in the course.

  2. Targeted Genome Sequencing Reveals Varicella-Zoster Virus Open Reading Frame 12 Deletion.

    PubMed

    Cohrs, Randall J; Lee, Katherine S; Beach, Addilynn; Sanford, Bridget; Baird, Nicholas L; Como, Christina; Graybill, Chiharu; Jones, Dallas; Tekeste, Eden; Ballard, Mitchell; Chen, Xiaomi; Yalacki, David; Frietze, Seth; Jones, Kenneth; Lenac Rovis, Tihana; Jonjić, Stipan; Haas, Jürgen; Gilden, Don

    2017-10-15

    The neurotropic herpesvirus varicella-zoster virus (VZV) establishes a lifelong latent infection in humans following primary infection. The low abundance of VZV nucleic acids in human neurons has hindered an understanding of the mechanisms that regulate viral gene transcription during latency. To overcome this critical barrier, we optimized a targeted capture protocol to enrich VZV DNA and cDNA prior to whole-genome/transcriptome sequence analysis. Since the VZV genome is remarkably stable, it was surprising to detect that VZV32, a VZV laboratory strain with no discernible growth defect in tissue culture, contained a 2,158-bp deletion in open reading frame (ORF) 12. Consequently, ORF 12 and 13 protein expression was abolished and Akt phosphorylation was inhibited. The discovery of the ORF 12 deletion, revealed through targeted genome sequencing analysis, points to the need to authenticate the VZV genome when the virus is propagated in tissue culture.IMPORTANCE Viruses isolated from clinical samples often undergo genetic modifications when cultured in the laboratory. Historically, VZV is among the most genetically stable herpesviruses, a notion supported by more than 60 complete genome sequences from multiple isolates and following multiple in vitro passages. However, application of enrichment protocols to targeted genome sequencing revealed the unexpected deletion of a significant portion of VZV ORF 12 following propagation in cultured human fibroblast cells. While the enrichment protocol did not introduce bias in either the virus genome or transcriptome, the findings indicate the need for authentication of VZV by sequencing when the virus is propagated in tissue culture. Copyright © 2017 American Society for Microbiology.

  3. Traffic Generator (TrafficGen) Version 1.4.2: Users Guide

    DTIC Science & Technology

    2016-06-01

    ARL-TR-7711 ● JUNE 2016 US Army Research Laboratory Traffic Generator (TrafficGen) Version 1.4.2: User’s Guide by Chien Hsieh...longer needed. Do not return it to the originator. ARL-TR-7711 ● JUNE 2016 US Army Research Laboratory Traffic Generator ...REPORT DATE (DD-MM-YYYY) June 2016 2. REPORT TYPE Final 3. DATES COVERED (From - To) 10/2014–09/2015 4. TITLE AND SUBTITLE Traffic Generator

  4. Genetics Home Reference: 22q13.3 deletion syndrome

    MedlinePlus

    ... and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed ... the syndrome's characteristic signs (such as developmental delay, intellectual disability, and impaired speech). Additional genes in the deleted ...

  5. Report: Observed Conditions at Five Deleted Superfund Sites

    EPA Pesticide Factsheets

    Report #11-P-0433, August 3, 2011. Conditions at two of the five sites we visited in EPA Region 3, which had been remediated and deleted from the National Priorities List, may warrant additional attention from EPA.

  6. Genetics Home Reference: 17q12 deletion syndrome

    MedlinePlus

    ... spectrum disorder (which affects social interaction and communication), schizophrenia , anxiety, and bipolar disorder . Less commonly, 17q12 deletion ... Encyclopedia: Autism Spectrum Disorder Encyclopedia: Bipolar Disorder Encyclopedia: ... Topic: Developmental Disabilities Health Topic: Diabetes Health ...

  7. Genetics Home Reference: 19p13.13 deletion syndrome

    MedlinePlus

    ... Resources (1 link) National Human Genome Research Institute: Chromosome Abnormalities Educational Resources (5 links) MalaCards: chromosome 19p13.13 deletion syndrome March of Dimes: Chromosomal ...

  8. Directly repeated sequences associated with pathogenic mitochondrial DNA deletions.

    PubMed Central

    Johns, D R; Rutledge, S L; Stine, O C; Hurko, O

    1989-01-01

    We determined the nucleotide sequences of junctional regions associated with large deletions of mitochondrial DNA found in four unrelated individuals with a phenotype of chronic progressive external ophthalmoplegia. In each patient, the deletion breakpoint occurred within a directly repeated sequence of 13-18 base pairs, present in different regions of the normal mitochondrial genome-separated by 4.5-7.7 kilobases. In two patients, the deletions were identical. When all four repeated sequences are compared, a consensus sequence of 11 nucleotides emerges, similar to putative recombination signals, suggesting the involvement of a recombinational event. Partially deleted and normal mitochondrial DNAs were found in all tissues examined, but in very different proportions, indicating that these mutations originated before the primary cell layers diverged. Images PMID:2813377

  9. Genetics Home Reference: 1p36 deletion syndrome

    MedlinePlus

    ... shaped. People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities ... to affect between 1 in 5,000 and 1 in 10,000 newborns. However, this may be an underestimate because some ...

  10. Additions and deletions to the known cerambycidae (Coleoptera) of Bolivia

    USDA-ARS?s Scientific Manuscript database

    An additional 137 species and two tribes are added to the known cerambycid fauna of Bolivia while 12 species are deleted. Comments and statistics regarding the growth of knowledge on the Bolivian Cerambycid fauna and species endemicity are included....

  11. Genetics Home Reference: proximal 18q deletion syndrome

    MedlinePlus

    ... B, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE. Consequences of chromsome18q deletions. Am ... Cody CM, Hardies LJ, Li J, Lancaster J, Fox PT, Stratton RF, Perry B, Hale DE. Recurrent ...

  12. 78 FR 17641 - Procurement List; Proposed Addition and Deletion

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-22

    ...The Committee is proposing to add a service to the Procurement List that will be provided by a nonprofit agency employing persons who are blind or have other severe disabilities and, deletes a product previously furnished by such...

  13. Characterization of a lymphoblastoid line deleted for lambda immunoglobulin genes

    SciTech Connect

    Hough, C.A., White, B.N., Holden, J.A.

    1995-04-01

    While characterizing the cat eye syndrome (CES) supernumerary chromosome for the presence of {lambda} immunoglobulin gene region sequences, a lymphoblastoid cell line from one CES patient was identified in which there was selection of cells deleted from some IGLC and IGLV genes. Two distinct deletions, one on each chromosome 22, were identified, presumably arising from independent somatic recombination events occurring during B-lymphocyte differentiation. The extent of the deleted regions was determined using probes from the various IGLV subgroups and they each covered at least 82 kilobases. The precise definition of the deletions was not possible because of conservation of some restriction sites in the IGLV region. The cell line was used to map putative IGLV genes within the recombinant phage {lambda}V{lambda}135 to the distal part of the IGLV gene region. 35 refs., 4 figs.

  14. 75 FR 41451 - Procurement List; Proposed Additions and Deletion

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-16

    ...The Committee is proposing to add services to the Procurement List that will be furnished by nonprofit agencies employing persons who are blind or have other severe disabilities and to delete a product previously furnished by such...

  15. Constitutional Ip36 deletion in a child with neuroblastoma

    SciTech Connect

    Biegel, J.A.; Zackai, E.H.; Scher, C.D.; Emanuel, B.S. Univ. of Pennsylvania, Philadelphia ); White, P.S.; Marshall, H.N.; Fujimori, Minoru; Brodeur, G.M. )

    1993-01-01

    The authors describe a child with dysmorphic features, as well as developmental and growth delay, who developed neuroblastoma at 5 mo of age. Cytogenetic analysis of blood lymphocytes revealed an interstitial deletion of 1p36.1 [r arrow] 1p36.2, which was apparent only with high-resolution banding. Molecular analysis with a collection of polymorphic DNA probes for 1p confirmed an interstitial deletion involving subbands of 1p36. Deletions of this region are a common finding in neuroblastoma cells from patients with advanced stages of disease. Therefore, these results (a) suggest that constitutional deletion of this region predisposed the patient to the development of neuroblastoma and (b) support the localization of a neuroblastoma tumor-suppressor locus to 1p36. 48 refs., 2 figs.

  16. Large mitochondrial DNA deletion in an infant with addison disease.

    PubMed

    Duran, Gloria P; Martinez-Aguayo, A; Poggi, H; Lagos, M; Gutierrez, D; Harris, P R

    2012-01-01

    Mitochondrial diseases are a group of disorders caused by mutations in nuclear DNA or mitochondrial DNA, usually involving multiple organ systems. Primary adrenal insufficiency due to mitochondrial disease is extremely infrequent and has been reported in association with mitochondrial DNA deletion syndromes such as Kearns-Sayre syndrome. To report a 3-year-old boy with Addison disease, congenital glaucoma, chronic pancreatitis, and mitochondrial myopathy due to large mitochondrial DNA deletion. Molecular analysis of mitochondrial DNA samples obtained from peripheral blood, oral mucosa, and muscle tissue. A novel large mitochondrial DNA deletion of 7,372bp was identified involving almost all genes on the big arch of mtDNA. This case reaffirms the association of adrenal insufficiency and mitochondrial DNA deletions and presents new evidence that glaucoma is another manifestation of mitochondrial diseases. Due to the genetic and clinical heterogeneity of mitochondrial disorders, molecular analysis is crucial to confirm diagnosis and to allow accurate genetic counseling.

  17. 75 FR 70909 - Procurement List Proposed Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-11-19

    ... Division II, Kansas City, MO. Barry S. Lineback, Director, Business Operations. BILLING CODE 6353-01-P ..., Division of Procurement, Washington, DC. Deletions Regulatory Flexibility Act Certification I certify that...

  18. 37 CFR 2.35 - Adding, deleting, or substituting bases.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... delete a basis at any time. (2) After publication, an applicant may add or substitute a basis in an application that is not the subject of an inter partes proceeding before the Trademark Trial and Appeal Board...

  19. PVWatts Version 1 Technical Reference

    SciTech Connect

    Dobos, A. P.

    2013-10-01

    The NREL PVWatts(TM) calculator is a web application developed by the National Renewable Energy Laboratory (NREL) that estimates the electricity production of a grid-connected photovoltaic system based on a few simple inputs. PVWatts combines a number of sub-models to predict overall system performance, and makes several hidden assumptions about performance parameters. This technical reference details the individual sub-models, documents assumptions and hidden parameters, and explains the sequence of calculations that yield the final system performance estimation.

  20. Good laboratory practice and laboratory accreditation.

    PubMed

    Lawrence, J; McQuaker, N

    1993-12-01

    Principles of good laboratory practice (GLP) and laboratory accreditation programs, particularly as they pertain to the environmental sector, are reviewed. The multitude of programs is proving costly for many laboratories and there is mounting pressure to develop reciprocity agreements between programs and to consolidate nationally and internationally. Inclusion of GLP and laboratory accreditation requirements in government regulations is resulting in a significantly increased number of laboratories participating in these programs.

  1. Mitochondrial DNA deletions in patients with chronic suppurative otitis media.

    PubMed

    Tatar, Arzu; Tasdemir, Sener; Sahin, Ibrahim; Bozoglu, Ceyda; Erdem, Haktan Bagis; Yoruk, Ozgur; Tatar, Abdulgani

    2016-09-01

    The aim of this study was to investigate the 4977 and 7400 bp deletions of mitochondrial DNA in patients with chronic suppurative otitis media and to indicate the possible association of mitochondrial DNA deletions with chronic suppurative otitis media. Thirty-six patients with chronic suppurative otitis media were randomly selected to assess the mitochondrial DNA deletions. Tympanomastoidectomy was applied for the treatment of chronic suppurative otitis media, and the curettage materials including middle ear tissues were collected. The 4977 and 7400 bp deletion regions and two control regions of mitochondrial DNA were assessed by using the four pair primers. DNA was extracted from middle ear tissues and peripheral blood samples of the patients, and then polymerase chain reactions (PCRs) were performed. PCR products were separated in 2 % agarose gel. Seventeen of 36 patients had the heterozygote 4977 bp deletion in the middle ear tissue but not in peripheral blood. There wasn't any patient who had the 7400 bp deletion in mtDNA of their middle ear tissue or peripheral blood tissue. The patients with the 4977 bp deletion had a longer duration of chronic suppurative otitis media and a higher level of hearing loss than the others (p < 0.01). Long time chronic suppurative otitis media and the reactive oxygen species can cause the mitochondrial DNA deletions and this may be a predisposing factor to sensorineural hearing loss in chronic suppurative otitis media. An antioxidant drug as a scavenger agent may be used in long-term chronic suppurative otitis media.

  2. Evolution models with base substitutions, insertions, deletions, and selection

    NASA Astrophysics Data System (ADS)

    Saakian, D. B.

    2008-12-01

    The evolution model with parallel mutation-selection scheme is solved for the case when selection is accompanied by base substitutions, insertions, and deletions. The fitness is assumed to be either a single-peak function (i.e., having one finite discontinuity) or a smooth function of the Hamming distance from the reference sequence. The mean fitness is calculated exactly in large-genome limit. In the case of insertions and deletions the evolution characteristics depend on the choice of reference sequence.

  3. Germline CDH1 deletions in hereditary diffuse gastric cancer families

    PubMed Central

    Oliveira, Carla; Senz, Janine; Kaurah, Pardeep; Pinheiro, Hugo; Sanges, Remo; Haegert, Anne; Corso, Giovanni; Schouten, Jan; Fitzgerald, Rebecca; Vogelsang, Holger; Keller, Gisela; Dwerryhouse, Sarah; Grimmer, Donna; Chin, Suet-Feung; Yang, Han-Kwang; Jackson, Charles E.; Seruca, Raquel; Roviello, Franco; Stupka, Elia; Caldas, Carlos; Huntsman, David

    2009-01-01

    Germline CDH1 point or small frameshift mutations can be identified in 30–50% of hereditary diffuse gastric cancer (HDGC) families. We hypothesized that CDH1 genomic rearrangements would be found in HDGC and identified 160 families with either two gastric cancers in first-degree relatives and with at least one diffuse gastric cancer (DGC) diagnosed before age 50, or three or more DGC in close relatives diagnosed at any age. Sixty-seven carried germline CDH1 point or small frameshift mutations. We screened germline DNA from the 93 mutation negative probands for large genomic rearrangements by Multiplex Ligation-Dependent Probe Amplification. Potential deletions were validated by RT–PCR and breakpoints cloned using a combination of oligo-CGH-arrays and long-range-PCR. In-silico analysis of the CDH1 locus was used to determine a potential mechanism for these rearrangements. Six of 93 (6.5%) previously described mutation negative HDGC probands, from low GC incidence populations (UK and North America), carried genomic deletions (UK and North America). Two families carried an identical deletion spanning 193 593 bp, encompassing the full CDH3 sequence and CDH1 exons 1 and 2. Other deletions affecting exons 1, 2, 15 and/or 16 were identified. The statistically significant over-representation of Alus around breakpoints indicates it as a likely mechanism for these deletions. When all mutations and deletions are considered, the overall frequency of CDH1 alterations in HDGC is ∼46% (73/160). CDH1 large deletions occur in 4% of HDGC families by mechanisms involving mainly non-allelic homologous recombination in Alu repeat sequences. As the finding of pathogenic CDH1 mutations is useful for management of HDGC families, screening for deletions should be offered to at-risk families. PMID:19168852

  4. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

    PubMed

    Zhang, Bin; Willing, Marcia; Grange, Dorothy K; Shinawi, Marwan; Manwaring, Linda; Vineyard, Marisa; Kulkarni, Shashikant; Cottrell, Catherine E

    2016-03-01

    Deletion of the short arm of chromosome 5 (5p-) is associated with phenotypic features including a cat-like cry in infancy, dysmorphic facial features, microcephaly, and intellectual disability, and when encompassing a minimal critical region, may be defined as Cri-du-Chat syndrome (CdCS). Most 5p deletions are de novo in origin, and familial cases are often associated with translocation and inversion. Herein, we report three multigenerational families carrying 5p terminal deletions of different size transmitted in an autosomal dominant manner causing variable clinical findings. Terminal 5p deletions and the mode of inheritance were clinically characterized and molecularly analyzed by a combination of microarray and fluorescence in situ hybridization analyses. Shared phenotypic features documented in this cohort included neuropsychiatric findings, poor growth, and dysmorphic facial features. This study supports newly recognized effects of aberrant SEMA5A and CTNND2 dosage on severity of autistic and cognitive phenotypes. Comparative analysis of the breakpoints narrows the critical region for the cat-like cry down to an interval less than 1 Mb encompassing a candidate gene ICE1, which regulates small nuclear RNA transcription. This study also indicates that familial terminal 5p deletion is a rare presentation displaying intra- and inter-familial phenotypic variability, the latter of which may be attributed to size and gene content of the deletion. The observed intra-familial phenotypic heterogeneity suggests that additional modifying elements including genetic and environmental factors may have an impact on the clinical manifestations observed in 5p deletion carriers, and in time, further high resolution studies of 5p deletion breakpoints will continue to aid in defining genotype-phenotype correlations.

  5. SLR-PLUS version 1.0 user's manual

    NASA Astrophysics Data System (ADS)

    Hill, J. M.

    1982-11-01

    Version 1.0 of Solar Load Ratio heating plus cooling (SLR-PLUS), developed as an advanced passive solar system design and evaluation tool, is discussed. SLR-PLUS maintains the friendly user interface structure developed for the active solar system FCHART program. Users familiar with the FCHART programs and the FCHART/SLR program will find the operation of the SLR-PLUS program very familiar SLR-PLUS differs significantly from its parent program in three major ways. First, SLR-PLUS is strictly for the evaluation of passive solar energy systems. Second, the latest correlations from the Los Alamos National Laboratory serve as the basis to the passive heating analysis used by SLR-PLUS. Finally, SLR-PLUS includes cooling loads imposed by passive systems in the form of an annual cooling load for the building modelled and for the individual passive systems. The present version was developed on an Hewlett-Packard 1000 minicomputer using an RTE-IVB operating system. The present version requires approximately 22K 16-bit words of core with overlays to run. The FORTRAN source code will compile with minor changes on any FORTRAN 77 compiler.

  6. Xp22. 3 deletions in isolated familial Kallmann's syndrome

    SciTech Connect

    Hardelin, J.P.; Levilliers, J.; Legouis, R.; Petit, C. ); Young, J.; Pholsena, M.; Schaison, G. ); Kirk, J.; Bouloux, P. )

    1993-04-01

    Several familial cases of Kallmann's syndrome (KS) have been reported, among which the X-chromosome-linked mode of inheritance is the most frequent. The gene responsible for the X-linked KS has been localized to the terminal part of the X-chromosome short arm (Xp22.3 region), immediately proximal to the steroid sulfatase gene responsible for X-linked ichthyosis. Large deletions of this region have been previously shown in patients affected with both X-linked ichthyosis and KS. The authors report here the search for Xp22.3 deletions in 20 unrelated males affected with isolated X-linked KS. Only 2 deletions were found using Southern blot analysis, indicating that large deletions are uncommon in patients affected with KS alone. Both deletions were shown to include the entire KAL gene responsible for X-linked KS. The patients carrying these deletions exhibit additional clinical anomalies, which are discussed: unilateral renal aplasia, unilateral absence of vas deferens, mirror movements, and sensory neural hearing loss. 47 refs., 2 figs., 1 tab.

  7. PolyA Deletions in Hereditary Nonpolyposis Colorectal Cancer

    PubMed Central

    Kim, Kyoung-Mee; Salovaara, Reijo; Mecklin, Jukka-Pekka; Järvinen, Heikki J.; Aaltonen, Lauri A.; Shibata, Darryl

    2002-01-01

    Microsatellite instability (MSI) secondary to loss of DNA mismatch repair (MMR) is present in adenomas and colorectal carcinomas from individuals with hereditary nonpolyposis colorectal cancer (HNPCC). To better characterize when MMR loss occurs during HNPCC progression, the extent of deletions in noncoding polyA sequences were compared between 6 adenomas (all ≤1.0 cm in size) and 10 cancers. Numbers of deleted bases reflect time since loss of MMR because polyA deletions are stepwise. Adenoma deletions were nearly the same (85%) as the cancers with sum total deletions at four different polyA loci of −32.7 bases in adenomas and −38.4 bases in cancers. Intervals between negative clinical examinations and tumor removal (average of 2.1 years) were known for six tumors. There were no significant differences in the extent of deletions in tumors removed under clinical surveillance (−34.8 bases) versus tumors removed without prior negative examinations (−36.5 bases). These findings illustrate that MSI is extensive in both small adenomas, and tumors which appear after negative clinical examinations, consistent with an early loss of MMR in HNPCC, even before a gatekeeper mutation. PMID:11943734

  8. Smith-Magenis syndrome deletion: A case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization

    SciTech Connect

    Juyal, R.C.; Patel, P.I.; Greenberg, F.

    1995-09-11

    The availability of markers for the 17p11.2 region has enabled the diagnosis of Smith-Magenis syndrome (SMS) by fluorescence in situ hybridization (FISH). SMS is typically associated with a discernible deletion of band 17p11.2 upon cytogenetic analysis at a resolution of 400-550 bands. We present a case that illustrates the importance of using FISH to confirm a cytogenetic diagnosis of del(17)(p11.2). Four independent cytogenetic analyses were performed with different conclusions. Results of low resolution analyses of amniocytes and peripheral blood lymphocytes were apparently normal, while high resolution analyses of peripheral blood samples in two laboratories indicated mosaicism for del(17)(p11.2). FISH clearly demonstrated a 17p deletion on one chromosome of all peripheral blood cells analyzed and ruled out mosaicism unambiguously. The deletion was undetectable by flow cytometric quantitation of chromosomal DNA content, suggesting that it is less than 2 Mb. We conclude that FISH should be used to detect the SMS deletion when routine chromosome analysis fails to detect it and to verify mosaicism. 23 refs., 3 figs., 1 tab.

  9. Deletion of lec-10, a galectin-encoding gene, increases susceptibility to oxidative stress in Caenorhabditis elegans.

    PubMed

    Nemoto-Sasaki, Yoko; Kasai, Ken-ichi

    2009-12-01

    Galectins are a family of beta-galactoside-binding lectins. They are involved in the regulation of a variety of biological phenomena in mammals. However, little is known about their roles in invertebrates. Caenorhabditis elegans is a well-characterized model organism whose complete genome has been sequenced. C. elegans is now being studied extensively in various fields of medical sciences. In this study, we examined the phenotypes of a mutant strain of C. elegans (tm1262) lacking lec-10, a galectin-encoding gene. We observed no difference in the rates of embryonic lethality and larval arrest/slow growth between this mutant strain and the wild-type strain. No apparent morphological defect was observed in the lec-10-deletion mutant (tm1262). Moreover, the life-spans of this mutant and the wild-type strain were equivalent. However, this mutant showed significantly greater susceptibility to paraquat and hydrogen peroxide than the wild type did. The lec-10-deletion mutants (tm1262) were as susceptible as the daf-16-deletion mutants (mu86) to paraquat and hydrogen peroxide. These results suggest that the deletion of lec-10 does not have a notable effect on the worm's survival under laboratory conditions. However, this study indicates that lec-10 does confer some protection against oxidative stress.

  10. UPGRADES TO Monteburns, VERSION 3.0

    SciTech Connect

    Galloway, Jack D; Trellue, Holly R

    2012-06-22

    Monteburns VERSION 3.0 is an upgrade of the existing Monteburns code available through RSICC. The new version includes modern programming style, increased parallel computing, more accurate capture gamma calculations and an automated input generator. This capability was demonstrated through a small PWR core simulation.

  11. VruiNet Version 12(SOPHIA)

    SciTech Connect

    None, None

    2012-08-09

    VruiNet Version 12 is the code used exclusively by the executable ‘vruinet’. VruiNet Version 12 provides a wrapper around the code for ‘oglnet’ that makes it compatible for VRUI systems such as the CAVE at CAES.

  12. CALIPSO GMAO Version Bump Release Notification

    Atmospheric Science Data Center

    2016-12-21

    ... stream of near-real-time assimilation products provided by NASA’s Global Modeling and Assimilation Office (GMAO). GMAO is transitioning ... 3.00 to Version 3.10. Please note that this change will not impact recently released CALIPSO Version 4.10 data products, as they use a ...

  13. VOSpace specification Version 1.15

    NASA Astrophysics Data System (ADS)

    Graham, Matthew; Morris, Dave; Rixon, Guy; Graham, Matthew

    2009-10-01

    VOSpace is the IVOA interface to distributed storage. This version extends the existing VOSpace 1.0 (SOAP-based) specification to support containers, links between individual VOSpace instances, third party APIs, and a find mechanism. Note, however, that VOSpace-1.0 compatible clients will not work with this new version of the interface.

  14. VOSpace specification Version 2.0

    NASA Astrophysics Data System (ADS)

    Graham, Matthew; Morris, Dave; Rixon, Guy; Dowler, Pat; Schaaff, Andre; Tody, Doug; Graham, Matthew

    2013-03-01

    VOSpace is the IVOA interface to distributed storage. This specification presents the first RESTful version of the interface, which is functionally equivalent to the SOAP-based VOSpace 1.1 specification. Note that all prior VOSpace clients will not work with this new version of the interface.

  15. Corps Support Command Planner Version .01B

    DTIC Science & Technology

    2007-11-02

    Visual Basic for Applications Excel derivative, COSCOM Planner Version .01B answered the research question, is it possible?, with a definitive "yes." Decision matrix results indicated that COSCOM Planner Version .01B will be a useful tool for logisticians. Further usability testing and algorithm improvement is required to insure its survivability over the next several

  16. Career Planning System. Microcomputer Version. Student Guide.

    ERIC Educational Resources Information Center

    Neuman, Delia; Long, James P.

    This student guide is part of the microcomputer version of the Career Planning System (CPS). CPS is a comprehensive instructional package designed to provide individualized career exploration and career planning experiences for students of approximately middle-school age. This version is designed to take advantage of the motivational, managerial,…

  17. [External cephalic version at term].

    PubMed

    Zwoliński, Jerzy; Pawłowska, Adriana; Bańkowska, Elzbieta Małgorzata; Lisawa, Jacek; Leibschang, Jerzy; Bogdan, Chazan

    2003-01-01

    About 3 - 4 % of all pregnancies reach term with a foetus in the breech presentation. Because of higher risk of complications for mother and foetus during the vaginal breech birth, only 50% of patients try to deliver vaginally - at the end 40 - 70% of labours are finished by caesarean section. In other cases planned caesarean sections are performed, and finally 10 - 20% of patients with breech presentation at term deliver vaginally. Prenatal mortality and serious complications after breech vaginal birth are 5% and after planned caesarean section 1.6%. This is the reason why the caesarean section is chosen as a final way of delivery with breech presentation. At present, after a period of increasing percentage of caesarean section one can observe a tendency to decrease this number. One of the procedures performed to decrease the number of complications and cost of perinatal management is external cephalic version (ECV). An indication to ECV is breech presentation at term, while there is no contraindication to ECV. Multiple pregnancy, significant third - trimester bleeding, uteroplacental insufficiency, IUGR, oligohydramnion, PROM, PIH, nonreassuring foetal monitoring patterns and all contraindications to vaginal birth are concerned to execute ECV. The real number of patients with breech presentation at term, after ECV, is according to the literature about 1 - 1.5%. The risk of serious complications during ECV, which are the indications for urgent caesarean section, is 1 - 3%. The risk of intrauterine death of foetus after ECV is about 0.0001%. According to the literature it appears that ECV at term seems to be useful and it is safe both for the mother and the foetus and helps to avoid a significant number of caesarean sections.

  18. USGS Spectral Library Version 7

    USGS Publications Warehouse

    Kokaly, Raymond F.; Clark, Roger N.; Swayze, Gregg A.; Livo, K. Eric; Hoefen, Todd M.; Pearson, Neil C.; Wise, Richard A.; Benzel, William M.; Lowers, Heather A.; Driscoll, Rhonda L.; Klein, Anna J.

    2017-04-10

    We have assembled a library of spectra measured with laboratory, field, and airborne spectrometers. The instruments used cover wavelengths from the ultraviolet to the far infrared (0.2 to 200 microns [μm]). Laboratory samples of specific minerals, plants, chemical compounds, and manmade materials were measured. In many cases, samples were purified, so that unique spectral features of a material can be related to its chemical structure. These spectro-chemical links are important for interpreting remotely sensed data collected in the field or from an aircraft or spacecraft. This library also contains physically constructed as well as mathematically computed mixtures. Four different spectrometer types were used to measure spectra in the library: (1) Beckman™ 5270 covering the spectral range 0.2 to 3 µm, (2) standard, high resolution (hi-res), and high-resolution Next Generation (hi-resNG) models of Analytical Spectral Devices (ASD) field portable spectrometers covering the range from 0.35 to 2.5 µm, (3) Nicolet™ Fourier Transform Infra-Red (FTIR) interferometer spectrometers covering the range from about 1.12 to 216 µm, and (4) the NASA Airborne Visible/Infra-Red Imaging Spectrometer AVIRIS, covering the range 0.37 to 2.5 µm. Measurements of rocks, soils, and natural mixtures of minerals were made in laboratory and field settings. Spectra of plant components and vegetation plots, comprising many plant types and species with varying backgrounds, are also in this library. Measurements by airborne spectrometers are included for forested vegetation plots, in which the trees are too tall for measurement by a field spectrometer. This report describes the instruments used, the organization of materials into chapters, metadata descriptions of spectra and samples, and possible artifacts in the spectral measurements. To facilitate greater application of the spectra, the library has also been convolved to selected spectrometer and imaging spectrometers sampling and

  19. Quality Assurance Calculations to Support Use of HELIOS Version 1.6 for Plutonium Disposition Studies

    SciTech Connect

    Sanders, C.E.

    2001-04-09

    In mid-2000, the Reactor Physics Group at Oak Ridge National Laboratory (ORNL) purchased a new version of the HELIOS, assembly-level reactor physics computer program (version 1.6). While the authors of the HELIOS program had performed validation and verification studies and compared results to versions 1.4 and 1.5, geometries and materials similar to those expected for mixed oxide fuel (MOX) in Russian water-water energetic reactors (VVER) had not been investigated. The studies reported in this document are a program-specific supplement to the work performed by the computer program authors and are performed to comply with quality assurance procedures of the Reactor Physics Group of ORNL. There were two goals for these studies. First, quantify the differences in nuclide inventories or other physics parameters, such as multiplication factors, due to the use of version 1.6 instead of 1.4. Second, determine if results from the version 1.6 design library (a 45 energy group library) differed significantly (meaning absolute value of the difference greater than or equal to 1%) from values obtained with the 190 group master library. Changes in nuclide inventories and multiplication factors are dependent on the system studied (whether U.S. or Russian reactors) and the type of fuel (whether low-enriched or mixed oxide). For selected actinides, the differences between the design library for version 1.4 and the master library for version 1.6 can be as high as 15%.

  20. VizieR Online Data Catalog: Skymap Star Catalog - Version 3.7 (Slater+ 1992)

    NASA Astrophysics Data System (ADS)

    Slater, M.; Hashmall, J.

    1995-09-01

    The original version has been improved and updated with corrections several times. Version 3.7 incorporates known errors documented previously in SKYMAP Error Reports. Magnitude errors discovered in SKYMAP Version 3.6 were corrected. Other minor catalog corrections, including the deletion of five duplicate entries and the addition of two stars, were also performed. The original catalog was compiled by D. M. Gottlieb of Computer Sciences Corporation (CSC) under contract to NASA. The compilation and statistics of the catalog are described by Gottlieb (1978), while the source referenced above describes in detail the contents of the current version and the derivation of values not available observationally. * IMPORTANT NOTE: THIS CATALOG WAS NOT COMPILED TO PROVIDE THE MOST ACCURATE AND RELIABLE DATA AT THE ASTRONOMICAL RESEARCH LEVEL. THE DERIVATIONS OF TWO-DIMENSIONAL MK TYPES FROM ONE-DIMENSIONAL DATA, UBV VALUES FROM PHOTOVISUAL AND PHOTOGRAPHIC MAGNITUDES, AND STELLAR DISTANCES FROM MAGNITUDES AND SPECTRAL TYPES ARE EXTREMELY UNCERTAIN, SO THESE DATA SHOULD NOT BE USED WITHOUT CAREFUL SCRUTINY. THE VARIOUS FLAGS ASSOCIATED WITH CATALOG DATA SHOULD BE RETAINED WITH THE DATA AT ALL TIMES OR GROSS MISINTERPRETATIONS MAY RESULT. USERS OF THIS CATALOG SHOULD KEEP THESE FACTS IN MIND CONSTANTLY. (1 data file).

  1. Translation and psychometric evaluation of a Swedish version of the parental stressor scale PSS: NICU.

    PubMed

    Månsson, Catrin; Jakobsson, Ulf; Lundqvist, Pia

    2016-03-01

    The aim was to translate the Parental Stressor Scale: Neonatal Intensive Care Unit (PSS: NICU) into the Swedish language and to evaluate the psychometric properties of the Swedish version. The PSS: NICU was translated into Swedish using the process of forward-backward translation. Thereafter, an internal panel of neonatal nurses (n = 10) assessed face and content validity and a panel of parents (n = 10) assessed content validity. A sample of 95 parents recruited from three different neonatal units completed the PSS: NICU and answered some open-ended questions in which they could comment on language and wording. There were eight new items in the PSS: NICU, compared with the very first version of the instrument. These had not been psychometrically tested previously. In this study, the subscales and total scale were analysed both with and without the new items to determine whether or not to use them. Psychometric properties including internal consistency, Cronbach's alpha (if item deleted) and corrected item total were evaluated. The result indicates that the Swedish version of PSS: NICU, both with and without the nonvalidated items, has acceptable psychometric properties and can be used in clinical practice in NICUs in Sweden. In order to meet the psychological needs of parents, healthcare professionals need to identify risk factors in the Neonatal Intensive Care Unit that contribute to stress amongst parents. The Swedish version of the PSS: NICU can be used for this purpose. © 2015 Nordic College of Caring Science.

  2. Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions

    PubMed Central

    Aygun, Nevim

    2015-01-01

    Long inverted repeats (LIRs) have been shown to induce genomic deletions in yeast. In this study, LIRs were investigated within ±10 kb spanning each breakpoint from 109 human gross deletions, using Inverted Repeat Finder (IRF) software. LIR number was significantly higher at the breakpoint regions, than in control segments (P < 0.001). In addition, it was found that strong correlation between 5′ and 3′ LIR numbers, suggesting contribution to DNA sequence evolution (r = 0.85, P < 0.001). 138 LIR features at ±3 kb breakpoints in 89 (81%) of 109 gross deletions were evaluated. Significant correlations were found between distance from breakpoint and loop length (r = −0.18, P < 0.05) and stem length (r = −0.18, P < 0.05), suggesting DNA strands are potentially broken in locations closer to bigger LIRs. In addition, bigger loops cause larger deletions (r = 0.19, P < 0.05). Moreover, loop length (r = 0.29, P < 0.02) and identity between stem copies (r = 0.30, P < 0.05) of 3′ LIRs were more important in larger deletions. Consequently, DNA breaks may form via LIR-induced cruciform structure during replication. DNA ends may be later repaired by non-homologous end-joining (NHEJ), with following deletion. PMID:25657065

  3. The National Energy Audit (NEAT) Engineering Manual (Version 6)

    SciTech Connect

    Gettings, M.B.

    2001-04-20

    Government-funded weatherization assistance programs resulted from increased oil prices caused by the 1973 oil embargo. These programs were instituted to reduce US consumption of oil and help low-income families afford the increasing cost of heating their homes. In the summer of 1988, Oak Ridge National Laboratory (ORNL) began providing technical support to the Department of Energy (DOE) Weatherization Assistance Program (WAP). A preliminary study found no suitable means of cost-effectively selecting energy efficiency improvements (measures) for single-family homes that incorporated all the factors seen as beneficial in improving cost-effectiveness and usability. In mid-1989, ORNL was authorized to begin development of a computer-based measure selection technique. In November of 1992 a draft version of the program was made available to all WAP state directors for testing. The first production release, Version 4.3, was made available in october of 1993. The Department of Energy's Weatherization Assistance Program has continued funding improvements to the program increasing its user-friendliness and applicability. initial publication of this engineering manual coincides with availability of Version 6.1, November 1997, though algorithms described generally apply to all prior versions. Periodic updates of specific sections in the manual will permit maintaining a relevant document. This Engineering Manual delineates the assumptions used by NEAT in arriving at the measure recommendations based on the user's input of the building characteristics. Details of the actual data entry are available in the NEAT User's Manual (ORNL/Sub/91-SK078/1) and will not be discussed in this manual.

  4. Recurrent deletions of IKZF1 in pediatric acute myeloid leukemia.

    PubMed

    de Rooij, Jasmijn D E; Beuling, Eva; van den Heuvel-Eibrink, Marry M; Obulkasim, Askar; Baruchel, André; Trka, Jan; Reinhardt, Dirk; Sonneveld, Edwin; Gibson, Brenda E S; Pieters, Rob; Zimmermann, Martin; Zwaan, C Michel; Fornerod, Maarten

    2015-09-01

    IKAROS family zinc finger 1/IKZF1 is a transcription factor important in lymphoid differentiation, and a known tumor suppressor in acute lymphoid leukemia. Recent studies suggest that IKZF1 is also involved in myeloid differentiation. To investigate whether IKZF1 deletions also play a role in pediatric acute myeloid leukemia, we screened a panel of pediatric acute myeloid leukemia samples for deletions of the IKZF1 locus using multiplex ligation-dependent probe amplification and for mutations using direct sequencing. Three patients were identified with a single amino acid variant without change of IKZF1 length. No frame-shift mutations were found. Out of 11 patients with an IKZF1 deletion, 8 samples revealed a complete loss of chromosome 7, and 3 cases a focal deletion of 0.1-0.9Mb. These deletions included the complete IKZF1 gene (n=2) or exons 1-4 (n=1), all leading to a loss of IKZF1 function. Interestingly, differentially expressed genes in monosomy 7 cases (n=8) when compared to non-deleted samples (n=247) significantly correlated with gene expression changes in focal IKZF1-deleted cases (n=3). Genes with increased expression included genes involved in myeloid cell self-renewal and cell cycle, and a significant portion of GATA target genes and GATA factors. Together, these results suggest that loss of IKZF1 is recurrent in pediatric acute myeloid leukemia and might be a determinant of oncogenesis in acute myeloid leukemia with monosomy 7. Copyright© Ferrata Storti Foundation.

  5. The phenotype associated with a large deletion on MECP2

    PubMed Central

    Bebbington, Ami; Downs, Jenny; Percy, Alan; Pineda, Mercé; Zeev, Bruria Ben; Bahi-Buisson, Nadia; Leonard, Helen

    2012-01-01

    Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene allowing genetic confirmation of previously unconfirmed cases of clinical Rett syndrome. This study describes the phenotype of those with a large deletion and compares with those with other pathogenic MECP2 mutations. Individuals were ascertained from the Australian Rett Syndrome and InterRett databases with data sourced from family and clinician questionnaires, and two case studies were constructed from the longitudinal Australian data. Regression and survival analysis were used to compare severity and age of onset of symptoms in those with and without a large deletion. Data were available for 974 individuals including 51 with a large deletion and ages ranged from 1 year 4 months to 49 years (median 9 years). Those with a large deletion were more severely affected than those with other mutation types. Specifically, individuals with large deletions were less likely to have learned to walk (OR 0.42, 95% CI: 0.22–0.79, P=0.007) and to be currently walking (OR 0.53, 95% CI: 0.26–1.10, P=0.089), and were at higher odds of being in the most severe category of gross motor function (OR 1.84, 95% CI: 0.98–3.48, P=0.057) and epilepsy (OR 2.72, 95% CI: 1.38–5.37, P=0.004). They also developed epilepsy, scoliosis, hand stereotypies and abnormal breathing patterns at an earlier age. We have described the disorder profile associated with a large deletion from the largest sample to date and have found that the phenotype is severe with motor skills particularly affected. PMID:22473088

  6. Annotated bibliography of Software Engineering Laboratory literature

    NASA Technical Reports Server (NTRS)

    1985-01-01

    An annotated bibliography of technical papers, documents, and memorandums produced by or related to the Software Engineering Laboratory is presented. More than 100 publications are summarized. These publications are summarized. These publications cover many areas of software engineering and range from research reports to software documentation. This document has been updated and reorganized substantially since the original version (SEL-82-006, November 1982). All materials are grouped into five general subject areas for easy reference: (1) the software engineering laboratory; (2) software tools; (3) models and measures; (4) technology evaluations; and (5) data collection. An index further classifies these documents by specific topic.

  7. 31 CFR 363.144 - May I delete a pending transaction involving a certificate of indebtedness?

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 31 Money and Finance: Treasury 2 2010-07-01 2010-07-01 false May I delete a pending transaction... I delete a pending transaction involving a certificate of indebtedness? (a) You may delete a pending purchase of a certificate of indebtedness initiated from your TreasuryDirect ® account. (b) You may delete...

  8. 10 CFR 9.19 - Segregation of exempt information and deletion of identifying details.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ...) For records required to be made available under 5 U.S.C. 552(a)(2), the NRC shall delete information that is exempt under one or more of the exemptions cited in § 9.17. The amount of information deleted... deletions are made from parts of the record by computer, the amount of information deleted will be indicated...

  9. CHARICE version 1.1 update.

    SciTech Connect

    Davis, Jean-Paul

    2008-10-01

    CHARICE (CHARacteristics-based inverse analysis of Isentropic Compression Experiments) is a computer application, previously documented in SAND2007-4948, that analyzes velocity waveform data from ramp-wave experiments to determine a material's quasi-isentropic loading response in stress and density using an iterative characteristics-based approach. This short report documents only the changes in CHARICE release version 1.1 relative to release version 1.0, and is not intended to stand alone. CHARICE version 1.1 corrects an error in the algorithm of the method, fixes several bugs, improves robustness and performance, provides more useful error descriptions, and adds a number of minor features.

  10. Tool Version Management Technology: A Case Study.

    DTIC Science & Technology

    1990-11-01

    Technical Report AD-A235 639 CMU/SEI-90-TR-25 Tool Version Management Technology: A Case Study Peter H. Feiler Grace F. Downey November 1990 x 91...00304 90 7 Technical Report CMU/SEI-90-TR-25 ESD-90-TR-226 November 1990 Tool Version Management Technology: A Case Study Peter H. Feiler Grace F. Downey...trademark holder. Table of Contents 1. lntroducton 1 2. The Problem 3 2.1. Tool Version Organization and Selection 3 2.2. Stability of Selected Tool

  11. Scalable Design of Paired CRISPR Guide RNAs for Genomic Deletion

    PubMed Central

    Polidori, Taisia; Palumbo, Emilio; Guigo, Roderic

    2017-01-01

    CRISPR-Cas9 technology can be used to engineer precise genomic deletions with pairs of single guide RNAs (sgRNAs). This approach has been widely adopted for diverse applications, from disease modelling of individual loci, to parallelized loss-of-function screens of thousands of regulatory elements. However, no solution has been presented for the unique bioinformatic design requirements of CRISPR deletion. We here present CRISPETa, a pipeline for flexible and scalable paired sgRNA design based on an empirical scoring model. Multiple sgRNA pairs are returned for each target, and any number of targets can be analyzed in parallel, making CRISPETa equally useful for focussed or high-throughput studies. Fast run-times are achieved using a pre-computed off-target database. sgRNA pair designs are output in a convenient format for visualisation and oligonucleotide ordering. We present pre-designed, high-coverage library designs for entire classes of protein-coding and non-coding elements in human, mouse, zebrafish, Drosophila melanogaster and Caenorhabditis elegans. In human cells, we reproducibly observe deletion efficiencies of ≥50% for CRISPETa designs targeting an enhancer and exonic fragment of the MALAT1 oncogene. In the latter case, deletion results in production of desired, truncated RNA. CRISPETa will be useful for researchers seeking to harness CRISPR for targeted genomic deletion, in a variety of model organisms, from single-target to high-throughput scales. PMID:28253259

  12. Mitochondrial DNA deletion analysis: a comparison of PCR quantitative methods.

    PubMed

    Hamblet, N S; Castora, F J

    1995-02-15

    The role of mitochondrial DNA (mtDNA) deletions in aging and in neurodegenerative diseases is often determined by measuring the amount of deleted mtDNA in the affected tissue. Upon examining brain autopsy tissue from a 59 year old individual with lung cancer we determined by serial dilution PCR and kinetic PCR that a greater ratio of deleted mtDNA was present in the caudate than in the parietal cortex. However, the magnitude difference for these two brain regions appeared to be technique dependent; by serial dilution PCR the caudate had 10 times more deleted mtDNA than the parietal cortex (0.0141 vs 0.0014) whereas kinetic PCR yielded a 4-fold difference (0.1258 vs 0.0316). These results indicate that although it is valid to compare the amount of deleted mtDNA in normal and diseased tissue and draw conclusions based on relative comparisons within one study, greater caution should be exercised when comparing absolute values from studies using different measurement techniques.

  13. TransFlip Mutations Produce Deletions in Pancreatic Cancer

    PubMed Central

    Norris, Alexis L.; Kamiyama, Hirohiko; Makohon-Moore, Alvin; Pallavajjala, Aparna; Morsberger, Laura A.; Lee, Kurt; Batista, Denise; Iacobuzio-Donahue, Christine A.; Lin, Ming-Tseh; Klein, Alison P.; Hruban, Ralph H.; Wheelan, Sarah J.; Eshleman, James R.

    2016-01-01

    Pancreatic ductal adenocarcinoma (PDAC) is driven by the inactivation of the tumor suppressor genes (TSGs), CDKN2A (P16) and SMAD4 (DPC4), commonly by homozygous deletions (HDs). Using a combination of high density single-nucleotide polymorphism (SNP) microarray and whole genome sequencing (WGS), we fine-mapped novel breakpoints surrounding deletions of CDKN2A and SMAD4 and characterized them by their underlying structural variants (SVs). Only one third of CDKN2A and SMAD4 deletions (6 of 18) were simple interstitial deletions, rather, the majority of deletions were caused by complex rearrangements, specifically, a translocation on one side of the TSG in combination with an inversion on the other side. We designate these as “TransFlip” mutations. Characteristics of TransFlip mutations are: (1) a propensity to target the TSGs CDKN2A and SMAD4 (P < 0.005), (2) not present in the germline of the examined samples, (3) non-recurrent breakpoints, (4) relatively small (47 bp to 3.4 kb) inversions, (5) inversions can be either telomeric or centromeric to the TSG, and (6) non-reciprocal, and non-recurrent translocations. TransFlip mutations are novel complex genomic rearrangements with unique breakpoint signatures in pancreatic cancer. We hypothesize that they are a common but poorly understood mechanism of TSG inactivation in human cancer. PMID:26031834

  14. Scalable Design of Paired CRISPR Guide RNAs for Genomic Deletion.

    PubMed

    Pulido-Quetglas, Carlos; Aparicio-Prat, Estel; Arnan, Carme; Polidori, Taisia; Hermoso, Toni; Palumbo, Emilio; Ponomarenko, Julia; Guigo, Roderic; Johnson, Rory

    2017-03-01

    CRISPR-Cas9 technology can be used to engineer precise genomic deletions with pairs of single guide RNAs (sgRNAs). This approach has been widely adopted for diverse applications, from disease modelling of individual loci, to parallelized loss-of-function screens of thousands of regulatory elements. However, no solution has been presented for the unique bioinformatic design requirements of CRISPR deletion. We here present CRISPETa, a pipeline for flexible and scalable paired sgRNA design based on an empirical scoring model. Multiple sgRNA pairs are returned for each target, and any number of targets can be analyzed in parallel, making CRISPETa equally useful for focussed or high-throughput studies. Fast run-times are achieved using a pre-computed off-target database. sgRNA pair designs are output in a convenient format for visualisation and oligonucleotide ordering. We present pre-designed, high-coverage library designs for entire classes of protein-coding and non-coding elements in human, mouse, zebrafish, Drosophila melanogaster and Caenorhabditis elegans. In human cells, we reproducibly observe deletion efficiencies of ≥50% for CRISPETa designs targeting an enhancer and exonic fragment of the MALAT1 oncogene. In the latter case, deletion results in production of desired, truncated RNA. CRISPETa will be useful for researchers seeking to harness CRISPR for targeted genomic deletion, in a variety of model organisms, from single-target to high-throughput scales.

  15. Mouse models for the Wolf-Hirschhorn deletion syndrome.

    PubMed

    Näf, D; Wilson, L A; Bergstrom, R A; Smith, R S; Goodwin, N C; Verkerk, A; van Ommen, G J; Ackerman, S L; Frankel, W N; Schimenti, J C

    2001-01-15

    Wolf-Hirschhorn syndrome (WHS) is a deletion syndrome caused by segmental haploidy of chromosome 4p16.3. Its hallmark features include a 'Greek warrior helmet' facial appearance, mental retardation, various midline defects and seizures. The WHS critical region (WHSCR) lies between the Huntington's disease gene, HD, and FGFR3. In mice, the homologs of these genes map to chromosome 5 in a region of conserved synteny with human 4p16.3. To derive mouse models of WHS and map genes responsible for subphenotypes of the syndrome, five mouse lines bearing radiation-induced deletions spanning the WHSCR syntenic region were generated and characterized. Similar to WHS patients, these animals were growth-retarded, were susceptible to seizures and showed midline (palate closure, tail kinks), craniofacial and ocular anomalies (colobomas, corneal opacities). Other phenotypes included cerebellar hypoplasia and a shortened cerebral cortex. Expression of WHS-like traits was variable and influenced by strain background and deletion size. These mice represent the first animal models for WHS. This collection of nested chromosomal deletions will be useful for mapping and identifying loci responsible for the various subphenotypes of WHS, and provides a paradigm for the dissection of other deletion syndromes using the mouse.

  16. Molecular mimicry and clonal deletion: A fresh look.

    PubMed

    Rose, Noel R

    2015-06-21

    In this article, I trace the historic background of clonal deletion and molecular mimicry, two major pillars underlying our present understanding of autoimmunity and autoimmune disease. Clonal deletion originated as a critical element of the clonal selection theory of antibody formation in order to explain tolerance of self. If we did have complete clonal deletion, there would be major voids, the infamous "black holes", in our immune repertoire. For comprehensive, protective adaptive immunity, full deletion is necessarily a rare event. Molecular mimicry, the sharing of epitopes among self and non-self antigens, is extraordinary common and provides the evidence that complete deletion of self-reactive clones is rare. If molecular mimicry were not common, protective adaptive immunity could not be all-encompassing. By taking a fresh look at these two processes together we can envision their evolutionary basis and understand the need for regulatory devices to prevent molecular mimicry from progressing to autoimmune disease. Copyright © 2014 Elsevier Ltd. All rights reserved.

  17. Functional Profiling Using the Saccharomyces Genome Deletion Project Collections.

    PubMed

    Nislow, Corey; Wong, Lai Hong; Lee, Amy Huei-Yi; Giaever, Guri

    2016-09-01

    The ability to measure and quantify the fitness of an entire organism requires considerably more complex approaches than simply using traditional "omic" methods that examine, for example, the abundance of RNA transcripts, proteins, or metabolites. The yeast deletion collections represent the only systematic, comprehensive set of null alleles for any organism in which such fitness measurements can be assayed. Generated by the Saccharomyces Genome Deletion Project, these collections allow the systematic and parallel analysis of gene functions using any measurable phenotype. The unique 20-bp molecular barcodes engineered into the genome of each deletion strain facilitate the massively parallel analysis of individual fitness. Here, we present functional genomic protocols for use with the yeast deletion collections. We describe how to maintain, propagate, and store the deletion collections and how to perform growth fitness assays on single and parallel screening platforms. Phenotypic fitness analyses of the yeast mutants, described in brief here, provide important insights into biological functions, mechanisms of drug action, and response to environmental stresses. It is important to bear in mind that the specific assays described in this protocol represent some of the many ways in which these collections can be assayed, and in this description particular attention is paid to maximizing throughput using growth as the phenotypic measure.

  18. Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size.

    PubMed

    Fisch, Gene S; Falk, Rena E; Carey, John C; Imitola, Jaime; Sederberg, Maria; Caravalho, Karen S; South, Sarah

    2016-09-01

    Subtelomeric deletions have been reported in ∼2.5% of individuals with developmental disabilities. Subtelomeric deletion 2q37 has been detected in many individuals diagnosed with intellectual disabilities (ID) and autism spectrum disorders (ASD). Previously, genotype-phenotype correspondences were examined for their relationship to breakpoints 37.1, 37.2, or 37.3. Our purpose was to ascertain whether there were phenotypic differences at these breakpoints, elucidate the cognitive-behavioral phenotype in del2q37, and examine the genotype-phenotype association in the deletion with respect to cognitive-behavioral profiles and ASD. We administered a comprehensive cognitive-behavioral battery to nine children diagnosed with del 2q37, ages 3.9-17.75 years. ID for five tested with the Stanford-Binet (4th Edition) (SBFE) ranged from severe to mild [IQ Range: 36-59]. Adaptive behavior scores from the Vineland Adaptive Behavior Scale (VABS) were much below adequate levels (DQ Range: floor value ["19"] to 55). Autism scores from the Child Autism Rating Scale (CARS) ranged from 22 [non-autistic] to 56 [extremely autistic]; 5/8 [63%] children received scores on the autism spectrum. Participants with the largest deletions, 10.1 and 9.5 Mb, attained the highest IQ and DQ scores while those with the smallest deletions, 7.9 and 6.6 Mb, made the lowest IQ and DQ scores. No association between deletion breakpoint and phenotype were found. Assessment of the various deleted regions suggested histone deacetylase 4 gene (HDAC4) was a likely candidate gene for ASD in our sample. However, two earlier reports found no association between HDAC4 haploinsufficiency and ASD. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  19. DATAMAP upgrade version 4.0

    NASA Technical Reports Server (NTRS)

    Watts, Michael E.; Dejpour, Shabob R.

    1989-01-01

    The changes made on the data analysis and management program DATAMAP (Data from Aeromechanics Test and Analytics - Management and Analysis Package) are detailed. These changes are made to Version 3.07 (released February, 1981) and are called Version 4.0. Version 4.0 improvements were performed by Sterling Software under contract to NASA Ames Research Center. The increased capabilities instituted in this version include the breakout of the source code into modules for ease of modification, addition of a more accurate curve fit routine, ability to handle higher frequency data, additional data analysis features, and improvements in the functionality of existing features. These modification will allow DATAMAP to be used on more data sets and will make future modifications and additions easier to implement.

  20. MISR Level 2 Aerosol and Land Versioning

    Atmospheric Science Data Center

    2016-11-04

        MISR Level 2 Aerosol and Land Versioning Aerosol and Land Surface Products Processing Status ESDT Product ... RegBestEstimateSpectralSSAUnc (not available; all fill value) RegBestEstimateSpectralOptDepthFraction ...

  1. MISR Level 2 Cloud Product Versioning

    Atmospheric Science Data Center

    2016-11-04

      MISR Level 2 Cloud Product Versioning MISR Level 2 Cloud Product Processing Status ESDT Product File ... Quality Designations MIL2TCSP MISR_AM1_TC_CLOUD Stage 3 Validated:  Cloud Top Heights (Without Wind ...

  2. Chemistry Laboratory Safety Check

    ERIC Educational Resources Information Center

    Patnoe, Richard L.

    1976-01-01

    An accident prevention/safety check list for chemistry laboratories is printed. Included are checks of equipment, facilities, storage and handling of chemicals, laboratory procedures, instruction procedures, and items to be excluded from chemical laboratories. (SL)

  3. Chromosome 13q deletion with Cornelia de Lange syndrome phenotype.

    PubMed

    Ngo, C T; Alhady, M; Tan, A K; Norlasiah, I Siti; Ong, G B; Chua, C N

    2007-03-01

    A 3-year-old girl with facial dysmorphic features suggestive of Cornelia de Lange syndrome was seen in the ophthalmology unit for a right leukocoria. The leukocoria was found to be caused by a large retinoblastoma and the right eye was enucleated. Chromosomal analysis revealed partial chromosome 13q deletion involving band 14 which is associated with a high risk of retinoblastoma. This case shows that patient with chromosome 13q deletion syndrome cannot be diagnosed based on dysmorphic features only. Chromosomal analysis is warranted in all infants with facial dysmorphism suggestive of Cornelia de Lange syndrome so that those with chromosome 13q deletion can be referred early for early detection of retinoblastoma.

  4. Mitochondrial DNA deletions in Alzheimer’s brains: A review

    PubMed Central

    Phillips, Nicole R.; Simpkins, James W.; Roby, Rhonda K.

    2013-01-01

    Mitochondrial dysfunction and increased oxidative stress have been associated with normal aging and possibly implicated in the etiology of late onset Alzheimer’s disease. DNA deletions, as well as other alterations, can result from oxidative damage to nucleic acids. Many studies in the last two decades have investigated the incidence of mitochondrial DNA deletions in post-mortem brain tissues of late onset Alzheimer’s disease patients as compared to age-matched normal controls. Published studies are not entirely concordant, but their differences might shed light on the heterogeneity of Alzheimer’s disease itself. Our understanding the role that mitochondrial DNA deletions plays in disease progression may provide valuable information that could someday lead to a treatment. PMID:23850329

  5. Semilobar holoprosencephaly with 21q22 deletion: an autopsy report.

    PubMed

    Mallick, Saumyaranjan; Panda, Shasanka Shekhar; Ray, Ruma; Shukla, Rashmi; Kabra, Madhulika; Agarwal, Ramesh

    2014-03-13

    Holoprosencephaly (HPE) is the most common forebrain developmental anomaly with a prevalence of 1:16 000 live-births. Possible aetiological agents include environmental factors and genetic defects such as trisomies (13, 18) and deletions (18p, 7q, 2p and 21q). This complex malformation is due to incomplete division of the cerebral hemisphere. The phenotypes of HPE include alobar, semilobar, lobar and midline interhemispheric fusion variants. Craniofacial anomalies occur in 80% of cases. Severely affected babies die in the neonatal period. Here we report an autopsied case of semilobar HPE with pituitary and adrenal agenesis with 21q22 deletion. Additional findings are noted that would help expand the spectrum of 21q22 deletion.

  6. Specific deletion of DNA sequences between preselected bases.

    PubMed Central

    Panayotatos, N; Truong, K

    1981-01-01

    Blunt-end ligation of a "filled-in" HindIII, Sal I, Ava I or Bcl I restriction site with a DNA fragment having A, G, C, or T as the terminal 3' nucleotide regenerates the corresponding restriction site. A combination of this property with the action of BAL 31 nuclease which progressively removes base-pairs from the ends of linear DNA, can generate deletions extending to desired pre-selected nucleotides, and introduces unique restriction sites at those positions. Similarly other restriction sites can be used to select for the deletion of sequences between specific di-, tri-, tetra- and penta-nucleotides. Using this method, 10 base pairs were deleted from the end of a restriction fragment carrying the late promoter for bacteriophage T7 gene 1.1, to create a molecule with a unique restriction site at the initiation codon for translation. Images PMID:6273803

  7. An MPI version of the BLACS

    SciTech Connect

    Walker, D.W.

    1994-12-31

    In this paper, issues related to implementing an MPI version of the Basic Linear Communication Subprograms (BLACS) are investigated. A set of routines, the MPI Linear Algebra Communication Subprograms (MLACS), are presented, and these arc used to implement an MPI version of the BLACS, The MLACS provide the same functionality as the BLACS, but extend the functionality of the BLACS to include both blocking and nonblocking communication, and all four of the MPI communication modes.

  8. Deletion of Melanin Concentrating Hormone Receptor-1 disrupts overeating in the presence of food cues.

    PubMed

    Sherwood, Andrew; Holland, Peter C; Adamantidis, Antoine; Johnson, Alexander W

    2015-12-01

    Exposure to environmental cues associated with food can evoke eating behavior in the absence of hunger. This capacity for reward cues to promote feeding behaviors under sated conditions can be examined in the laboratory using cue-potentiated feeding (CPF). The orexigenic neuropeptide Melanin Concentrating Hormone (MCH) is expressed throughout brain circuitry critical for CPF. We examined whether deletion of the MCH receptor, MCH-1R, would in KO mice disrupt overeating in the presence of a Pavlovian CS+ associated with sucrose delivery. While both wild-type controls and KO mice showed comparable food magazine approach responses during the CPF test, MCH-1R deletion significantly impaired the ability of the CS+ to evoke overeating of sucrose under satiety. Through the use of a refined analysis of meal intake, it was revealed that this disruption to overeating behavior in KO mice reflected a reduction in the capacity for the CS+ to initiate and maintain bursts of licking behavior. These findings suggest that overeating during CPF requires intact MCH-1R signaling and may be due to an influence of the CS+ on the palatability of food and on regulatory mechanisms of peripheral control. Thus, disruptions to MCH-1R signaling may be a useful pharmacological tool to inhibit this form of overeating behavior.

  9. Functional Dissection of Regulatory Models Using Gene Expression Data of Deletion Mutants

    PubMed Central

    Liu, Min; Han, Jing-Dong J.

    2013-01-01

    Genome-wide gene expression profiles accumulate at an alarming rate, how to integrate these expression profiles generated by different laboratories to reverse engineer the cellular regulatory network has been a major challenge. To automatically infer gene regulatory pathways from genome-wide mRNA expression profiles before and after genetic perturbations, we introduced a new Bayesian network algorithm: Deletion Mutant Bayesian Network (DM_BN). We applied DM_BN to the expression profiles of 544 yeast single or double deletion mutants of transcription factors, chromatin remodeling machinery components, protein kinases and phosphatases in S. cerevisiae. The network inferred by this method identified causal regulatory and non-causal concurrent interactions among these regulators (genetically perturbed genes) that are strongly supported by the experimental evidence, and generated many new testable hypotheses. Compared to networks reconstructed by routine similarity measures or by alternative Bayesian network algorithms, the network inferred by DM_BN excels in both precision and recall. To facilitate its application in other systems, we packaged the algorithm into a user-friendly analysis tool that can be downloaded at http://www.picb.ac.cn/hanlab/DM_BN.html. PMID:24039601

  10. [Theme: Using Laboratories.

    ERIC Educational Resources Information Center

    Pritchard, Jack; Braker, Clifton

    1982-01-01

    Pritchard discusses the opportunities for applied learning afforded by laboratories. Braker describes the evaluation of cognitive, affective, and psychomotor skills in the agricultural mechanics laboratory. (SK)

  11. SeqReporter: automating next-generation sequencing result interpretation and reporting workflow in a clinical laboratory.

    PubMed

    Roy, Somak; Durso, Mary Beth; Wald, Abigail; Nikiforov, Yuri E; Nikiforova, Marina N

    2014-01-01

    A wide repertoire of bioinformatics applications exist for next-generation sequencing data analysis; however, certain requirements of the clinical molecular laboratory limit their use: i) comprehensive report generation, ii) compatibility with existing laboratory information systems and computer operating system, iii) knowledgebase development, iv) quality management, and v) data security. SeqReporter is a web-based application developed using ASP.NET framework version 4.0. The client-side was designed using HTML5, CSS3, and Javascript. The server-side processing (VB.NET) relied on interaction with a customized SQL server 2008 R2 database. Overall, 104 cases (1062 variant calls) were analyzed by SeqReporter. Each variant call was classified into one of five report levels: i) known clinical significance, ii) uncertain clinical significance, iii) pending pathologists' review, iv) synonymous and deep intronic, and v) platform and panel-specific sequence errors. SeqReporter correctly annotated and classified 99.9% (859 of 860) of sequence variants, including 68.7% synonymous single-nucleotide variants, 28.3% nonsynonymous single-nucleotide variants, 1.7% insertions, and 1.3% deletions. One variant of potential clinical significance was re-classified after pathologist review. Laboratory information system-compatible clinical reports were generated automatically. SeqReporter also facilitated quality management activities. SeqReporter is an example of a customized and well-designed informatics solution to optimize and automate the downstream analysis of clinical next-generation sequencing data. We propose it as a model that may envisage the development of a comprehensive clinical informatics solution. Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  12. System software for the NMFECC CRAY-1 version of GIFTS 4B. [In CFT-FORTRAN

    SciTech Connect

    Gray, W.H.; Baudry, T.V.

    1981-01-01

    The Oak Ridge National Laboratory (ORNL) maintains a version of the GIFTS system structural analysis computer programs. Executable modules are supported on two different types of computer hardware, a DECsystem-10 and a CRAY-1. Without external difference to the user, these modules execute equivalently upon both types of hardware. Presented herein are the local software enhancements for the ORNL version of GIFTS for the National Magnetic Fusion Energy Computer Center (NMFECC) CRAY-1 computer as well as a description of the ORNL implementation of the system-dependent portions of the GIFTS software library for the NMFECC CRAY-1.

  13. Deletion and deletion/insertion mutations in the juxtamembrane domain of the FLT3 gene in adult acute myeloid leukemia

    PubMed Central

    Deeb, Kristin K.; Smonskey, Matthew T.; DeFedericis, HanChun; Deeb, George; Sait, Sheila N.J.; Wetzler, Meir; Wang, Eunice S.; Starostik, Petr

    2014-01-01

    In contrast to FLT3 ITD mutations, in-frame deletions in the FLT3 gene have rarely been described in adult acute leukemia. We report two cases of AML with uncommon in-frame mutations in the juxtamembrane domain of the FLT3 gene: a 3-bp (c.1770_1774delCTACGinsGT; p.F590_V592delinsLF) deletion/insertion and a 12-bp (c.1780_1791delTTCAGAGAATAT; p.F594_Y597del) deletion. We verified by sequencing that the reading frame of the FLT3 gene was preserved and by cDNA analysis that the mRNA of the mutant allele was expressed in both cases. Given the recent development of FLT3 inhibitors, our findings may be of therapeutic value for AML patients harboring similar FLT3 mutations. PMID:25379410

  14. Bridging the Gene-Behavior Divide through Neuroimaging Deletion Syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) Syndromes

    PubMed Central

    Eisenberg, Daniel Paul; Jabbi, Mbemba; Berman, Karen Faith

    2010-01-01

    Investigating the relationship between genes and the neural substrates of complex human behavior promises to provide essential insight into the pathophysiology of mental disorders. One approach to this inquiry is through neuroimaging of individuals with microdeletion syndromes that manifest in specific neuropsychiatric phenotypes. Both Velocardiofacial Syndrome (VCFS) and Williams Syndrome (WS) involve haploinsufficiency of a relatively small set of identified genes on the one hand and association with distinct, clinically-relevant behavioral and cognitive profiles on the other hand. In VCFS, there is a deletion in chromosomal region 22q11.2 and a resultant predilection toward psychosis, poor arithmetic proficiency, and low performance intelligence quotients. In WS, there is a deletion in chromosomal region 7q11.23 and a resultant predilection toward hypersociability, non-social anxiety, impaired visuospatial construction, and often intellectual impairment. Structural and functional neuroimaging studies have begun not only to map these well-defined genetic alterations to systems-level brain abnormalities, but also to identify relationships between neural phenotypes and particular genes within the critical deletion regions. Though neuroimaging of both VCFS and WS presents specific, formidable methodological challenges, including comparison subject selection and accounting for neuroanatomical and vascular anomalies in patients, and many questions remain, the literature to date on these syndromes, reviewed herein, constitutes a fruitful “bottom-up” approach to defining gene-brain relationships. PMID:20206275

  15. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

    PubMed Central

    Fernández, Luis; Nevado, Julián; Santos, Fernando; Heine-Suñer, Damià; Martinez-Glez, Victor; García-Miñaur, Sixto; Palomo, Rebeca; Delicado, Alicia; Pajares, Isidora López; Palomares, María; García-Guereta, Luis; Valverde, Eva; Hawkins, Federico; Lapunzina, Pablo

    2009-01-01

    Background Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date. Methods We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents. Results Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping. Conclusion The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors. PMID

  16. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

    PubMed

    Fernández, Luis; Nevado, Julián; Santos, Fernando; Heine-Suñer, Damià; Martinez-Glez, Victor; García-Miñaur, Sixto; Palomo, Rebeca; Delicado, Alicia; Pajares, Isidora López; Palomares, María; García-Guereta, Luis; Valverde, Eva; Hawkins, Federico; Lapunzina, Pablo

    2009-06-02

    Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date. We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents. Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping. The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.

  17. International Spinal Cord Injury Core Data Set (version 2.0)-including standardization of reporting.

    PubMed

    Biering-Sørensen, F; DeVivo, M J; Charlifue, S; Chen, Y; New, P W; Noonan, V; Post, M W M; Vogel, L

    2017-08-01

    The study design includes expert opinion, feedback, revisions and final consensus. The objective of the study was to present the new knowledge obtained since the International Spinal Cord Injury (SCI) Core Data Set (Version 1.0) published in 2006, and describe the adjustments made in Version 2.0, including standardization of data reporting. International. Comments received from the SCI community were discussed in a working group (WG); suggestions from the WG were reviewed and revisions were made. All suggested revisions were considered, and a final version was circulated for final approval. The International SCI Core Data Set (Version 2.0) consists of 25 variables. Changes made to this version include the deletion of one variable 'Total Days Hospitalized' and addition of two variables 'Date of Rehabilitation Admission' and 'Date of Death.' The variable 'Injury Etiology' was extended with six non-traumatic categories, and corresponding 'Date of Injury' for non-traumatic cases, was defined as the date of first physician visit for symptoms related to spinal cord dysfunction. A category reflecting transgender was added. A response category was added to the variable on utilization of ventilatory assistance to document the use of continuous positive airway pressure for sleep apnea. Other clarifications were made to the text. The reporting of the pediatric SCI population was updated as age groups 0-5, 6-12, 13-14, 15-17 and 18-21. Collection of the core data set should be a basic requirement of all studies of SCI to facilitate accurate descriptions of patient populations and comparison of results across published studies from around the world.

  18. A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features.

    PubMed

    Miya, Kazushi; Shimojima, Keiko; Sugawara, Midori; Shimada, Shino; Tsuri, Hiroyuki; Harai-Tanaka, Tomomi; Nakaoka, Sachiko; Kanegane, Hirokazu; Miyawaki, Toshio; Yamamoto, Toshiyuki

    2012-09-10

    The contiguous gene syndrome involving 8p11.2 is recognized as a combined phenotype of both Kallmann syndrome and hereditary spherocytosis, because the genes responsible for these 2 clinical entities, the fibroblast growth factor receptor 1 (FGFR1) and ankyrin 1 (ANK1) genes, respectively, are located in this region within a distance of 3.2Mb. We identified a 3.7Mb deletion of 8p11.2 in a 19-month-old female patient with hereditary spherocytosis. The identified deletion included ANK1, but not FGFR1, which is consistent with the absence of any phenotype or laboratory findings of Kallmann syndrome. Compared with the previous studies, the deletion identified in this study was located on the proximal end of 8p, indicating a pure interstitial deletion of 8p11.21. This patient exhibited mild developmental delay and distinctive facial findings in addition to hereditary spherocytosis. Thus, some of the genes included in the deleted region would be related to these symptoms.

  19. Minimum prevalence of chromosome 22q11 deletions

    SciTech Connect

    Wilson, D.I.; Cross, I.E.; Burn, J.

    1994-09-01

    Submicroscopic deletions from within chromosome 22q11 are associated with DiGeorge (DGS), velocardiofacial (VCFS) and conotruncal anomaly syndromes and isolated congenital heart defects. In 1993 our pediatric cardiologists clinically referred all children in whom a chromosome 22q11 deletion was suspected for fluorescent in situ hybridization studies using probes from the DGS critical region. 10 affected individuals have been identified to date from the children born in 1993 in the Northern Region served exclusively by our center. A further case, the subsequent pregnancy in one of these families was affected and terminated on the basis of a major heart malformation. In the years 1988-92, for which we have complete ascertainment, there were 1009 heart defects among 191,700 births (mean 202 per annum). Thus we estimate that chromosome 22q11 deletions were the cause of at least 5% of congenital heart disease. As not all children with chromosome 22q11 deletions have a heart defect, this gives an estimated minimum prevalence of 1/4000 live births.

  20. [An updated review of 1p36 deletion (monosomy) syndrome].

    PubMed

    Bello, Sabina; Rodríguez-Moreno, Antonio

    The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and hydrocephalus (in some cases). Cerebral malformations: ventricular hypertrophy, increased subarachnoid space, morphological alterations of corpus callosum, cortical atrophy, delays in myelinisation, periventricular leukomalacia and periventricular heterotopia. These alterations produce intellectual disability and delays in motor growth, communication skills, language, social and adaptive behaviour. It is Hearing and vision impairments are also observed in subjects with this syndrome, as well as alterations of cardiac, endocrine and urinary systems and alterations at skin and skeletal level. Approximately 100 cases have been documented since 1981. This rare disease is the most common subtelomeric-micro-deletion syndrome. In situ hybridization with fluorescence (FISH) and array-comparative genomic hybridization (CGH-array) are at present the two best diagnostic techniques. There is currently no effective medical treatment for this disease. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. 37 CFR 2.35 - Adding, deleting, or substituting bases.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 37 Patents, Trademarks, and Copyrights 1 2012-07-01 2012-07-01 false Adding, deleting, or substituting bases. 2.35 Section 2.35 Patents, Trademarks, and Copyrights UNITED STATES PATENT AND TRADEMARK OFFICE, DEPARTMENT OF COMMERCE RULES OF PRACTICE IN TRADEMARK CASES The Written Application § 2.35 Adding...

  2. 77 FR 26520 - Procurement List Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-04

    ... would accomplish the objectives of the Javits-Wagner-O'Day Act (41 U.S.C. 8501-8506) in connection with... objectives of the Javits-Wagner-O'Day Act (41 U.S.C. 8501-8506) in connection with the products deleted from...

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    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-12-10

    ...-Wagner-O'Day Act (41 U.S.C. 46- 48c) in connection with the product and service proposed for addition to... objectives of the Javits-Wagner-O'Day Act (41 U.S.C. 46- 48c) in connection with the products deleted from...

  4. 76 FR 51955 - Procurement List Proposed Addition and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-08-19

    ... the objectives of the Javits-Wagner-O'Day Act (41 U.S.C. 46- 48c) in connection with the service... the Javits-Wagner-O'Day Act (41 U.S.C. 46- 48c) in connection with the services proposed for deletion...

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    Federal Register 2010, 2011, 2012, 2013, 2014

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    ... regulatory alternatives which would accomplish the objectives of the Javits-Wagner-O'Day Act (41 U.S.C. 46...-Wagner-O'Day Act (41 U.S.C. 46- 48c) in connection with the products and service deleted from the...

  6. 24 CFR 990.155 - Addition and deletion of units.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... URBAN DEVELOPMENT THE PUBLIC HOUSING OPERATING FUND PROGRAM Eligibility for Operating Subsidy... 24 Housing and Urban Development 4 2011-04-01 2011-04-01 false Addition and deletion of units. 990.155 Section 990.155 Housing and Urban Development REGULATIONS RELATING TO HOUSING AND URBAN...

  7. 24 CFR 990.155 - Addition and deletion of units.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... URBAN DEVELOPMENT THE PUBLIC HOUSING OPERATING FUND PROGRAM Eligibility for Operating Subsidy... 24 Housing and Urban Development 4 2012-04-01 2012-04-01 false Addition and deletion of units. 990.155 Section 990.155 Housing and Urban Development REGULATIONS RELATING TO HOUSING AND URBAN...

  8. 24 CFR 990.155 - Addition and deletion of units.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... URBAN DEVELOPMENT THE PUBLIC HOUSING OPERATING FUND PROGRAM Eligibility for Operating Subsidy... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false Addition and deletion of units. 990.155 Section 990.155 Housing and Urban Development Regulations Relating to Housing and Urban...

  9. 24 CFR 990.155 - Addition and deletion of units.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... URBAN DEVELOPMENT THE PUBLIC HOUSING OPERATING FUND PROGRAM Eligibility for Operating Subsidy... 24 Housing and Urban Development 4 2013-04-01 2013-04-01 false Addition and deletion of units. 990.155 Section 990.155 Housing and Urban Development REGULATIONS RELATING TO HOUSING AND URBAN...

  10. 24 CFR 990.155 - Addition and deletion of units.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... URBAN DEVELOPMENT THE PUBLIC HOUSING OPERATING FUND PROGRAM Eligibility for Operating Subsidy... 24 Housing and Urban Development 4 2014-04-01 2014-04-01 false Addition and deletion of units. 990.155 Section 990.155 Housing and Urban Development REGULATIONS RELATING TO HOUSING AND URBAN...

  11. Deletion mapping of the Aequorea victoria green fluorescent protein.

    PubMed

    Dopf, J; Horiagon, T M

    1996-01-01

    Aequorea victoria green fluorescent protein (GFP) is a promising fluorescent marker which is active in a diverse array of prokaryotic and eukaryotic organisms. A key feature underlying the versatility of GFP is its capacity to undergo heterocyclic chromophore formation by cyclization of a tripeptide present in its primary sequence and thereby acquiring fluorescent activity in a variety of intracellular environments. In order to define further the primary structure requirements for chromophore formation and fluorescence in GFP, a series of N- and C-terminal GFP deletion variant expression vectors were created using the polymerase chain reaction. Scanning spectrofluorometric analyses of crude soluble protein extracts derived from eleven GFP expression constructs revealed that amino acid (aa) residues 2-232, of a total of 238 aa in the native protein, were required for the characteristic emission and absorption spectra of native GFP. Heterocyclic chromophore formation was assayed by comparing the absorption spectrum of GFP deletion variants over the 300-500-nm range to the absorption spectra of full-length GFP and GFP deletion variants missing the chromophore substrate domain from the primary sequence. GFP deletion variants lacking fluorescent activity showed no evidence of heterocyclic ring structure formation when the soluble extracts of their bacterial expression hosts were studied at pH 7.9. These observations suggest that the primary structure requirements for the fluorescent activity of GFP are relatively extensive and are compatible with the view that much of the primary structure serves an autocatalytic function.

  12. 75 FR 31768 - Procurement List Proposed Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-06-04

    .... Service Type/Location: Grounds Maintenance, National Weather Service Forecast Office, 400 Parkway Road... severe disabilities, and to delete services previously furnished by such agencies. DATES: Comments Must... are blind or have other severe disabilities. Regulatory Flexibility Act Certification I certify that...

  13. Genetic Counseling for the 22q11.2 Deletion

    ERIC Educational Resources Information Center

    McDonald-McGinn, Donna M.; Zackai, Elaine H.

    2008-01-01

    Because of advances in palliative medical care, children with the 22q11.2 deletion syndrome are surviving into adulthood. An increase in reproductive fitness will likely follow necessitating enhanced access to genetic counseling for these patients and their families. Primary care physicians/obstetric practitioners are in a unique position to…

  14. Efficient sequential repetitive gene deletions in Neurospora crassa

    USDA-ARS?s Scientific Manuscript database

    Despite its long-standing history as a model organism, Neurospora crassa has limited tools for repetitive gene deletions utilizing recyclable self-excising marker systems. Here we describe, for the first time, the functionality of a bacterial recombination system employing ß-recombinase acting on si...

  15. Genetic Counseling for the 22q11.2 Deletion

    ERIC Educational Resources Information Center

    McDonald-McGinn, Donna M.; Zackai, Elaine H.

    2008-01-01

    Because of advances in palliative medical care, children with the 22q11.2 deletion syndrome are surviving into adulthood. An increase in reproductive fitness will likely follow necessitating enhanced access to genetic counseling for these patients and their families. Primary care physicians/obstetric practitioners are in a unique position to…

  16. 75 FR 27313 - Procurement List; Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-05-14

    ... products are deleted from the Procurement List: Products USB Flash Drive, Flip Style NSN: 7045-01-568-4206--1 GB, no encryption. NSN: 7045-01-568-4207--1GB, with encryption. USB Flash Drive with Password Protection NSN: 7045-01-558-4983--512MB. NSN: 7045-01-558-4984--USB Flash Drive. USB Flash Drive with...

  17. Genomic anatomy of the Tyrp1 (brown) deletion complex

    SciTech Connect

    Hunsicker, Patricia R; Johnson, Dabney K

    2006-01-01

    Chromosome deletions in the mouse have proven invaluable in the dissection of gene function. The brown deletion complex comprises >28 independent genome rearrangements, which have been used to identify several functional loci on chromosome 4 required for normal embryonic and postnatal development. We have constructed a 172-bacterial artificial chromosome contig that spans this 22- egabase (Mb) interval and have produced a contiguous, finished, and manually annotated sequence from these clones. The deletion complex is strikingly gene- oor, containing only 52 protein-coding genes (of which only 39 are supported by human homologues) and has several further notable genomic features, including several segments of >1 Mb, apparently devoid of a coding sequence. We have used sequence polymorphisms to finely map the deletion breakpoints and identify strong candidate genes for the known phenotypes that map to this region, including three lethal loci (l4Rn1, l4Rn2, and l4Rn3) and the fitness mutant brown-associated fitness (baf). We have also characterized misexpression of the basonuclin homologue, Bnc2, associated with the inversion-ediated coat color mutant white-based brown (Bw). This study provides a molecular insight into the basis of several characterized mouse mutants, which will allow further dissection of this region by targeted or chemical mutagenesis.

  18. Atm deletion with dual recombinase technology preferentially radiosensitizes tumor endothelium.

    PubMed

    Moding, Everett J; Lee, Chang-Lung; Castle, Katherine D; Oh, Patrick; Mao, Lan; Zha, Shan; Min, Hooney D; Ma, Yan; Das, Shiva; Kirsch, David G

    2014-08-01

    Cells isolated from patients with ataxia telangiectasia are exquisitely sensitive to ionizing radiation. Kinase inhibitors of ATM, the gene mutated in ataxia telangiectasia, can sensitize tumor cells to radiation therapy, but concern that inhibiting ATM in normal tissues will also increase normal tissue toxicity from radiation has limited their clinical application. Endothelial cell damage can contribute to the development of long-term side effects after radiation therapy, but the role of endothelial cell death in tumor response to radiation therapy remains controversial. Here, we developed dual recombinase technology using both FlpO and Cre recombinases to generate primary sarcomas in mice with endothelial cell-specific deletion of Atm to determine whether loss of Atm in endothelial cells sensitizes tumors and normal tissues to radiation. Although deletion of Atm in proliferating tumor endothelial cells enhanced the response of sarcomas to radiation, Atm deletion in quiescent endothelial cells of the heart did not sensitize mice to radiation-induced myocardial necrosis. Blocking cell cycle progression reversed the effect of Atm loss on tumor endothelial cell radiosensitivity. These results indicate that endothelial cells must progress through the cell cycle in order to be radiosensitized by Atm deletion.

  19. 75 FR 5970 - Procurement List: Proposed Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-02-05

    ...The Committee is proposing to add to the Procurement List a product and a service to be furnished by nonprofit agencies employing persons who are blind or have other severe disabilities, and to delete products previously furnished by such agencies. Comments Must Be Received on or Before: March 8, 2010.

  20. On Making a Distinguished Vertex Minimum Degree by Vertex Deletion

    NASA Astrophysics Data System (ADS)

    Betzler, Nadja; Bredereck, Robert; Niedermeier, Rolf; Uhlmann, Johannes

    For directed and undirected graphs, we study the problem to make a distinguished vertex the unique minimum-(in)degree vertex through deletion of a minimum number of vertices. The corresponding NP-hard optimization problems are motivated by applications concerning control in elections and social network analysis. Continuing previous work for the directed case, we show that the problem is W[2]-hard when parameterized by the graph's feedback arc set number, whereas it becomes fixed-parameter tractable when combining the parameters "feedback vertex set number" and "number of vertices to delete". For the so far unstudied undirected case, we show that the problem is NP-hard and W[1]-hard when parameterized by the "number of vertices to delete". On the positive side, we show fixed-parameter tractability for several parameterizations measuring tree-likeness, including a vertex-linear problem kernel with respect to the parameter "feedback edge set number". On the contrary, we show a non-existence result concerning polynomial-size problem kernels for the combined parameter "vertex cover number and number of vertices to delete", implying corresponding nonexistence results when replacing vertex cover number by treewidth or feedback vertex set number.

  1. Sperm mitochondrial DNA deletion in Iranian infertiles with asthenozoospermia.

    PubMed

    Bahrehmand Namaghi, I; Vaziri, H

    2017-04-01

    Asthenozoospermia is an important cause of male infertility. The mutations in sperm mitochondrial DNA (mtDNA) result in either functionless or malfunctioning some proteins, subsequently affecting sperm motility leading to asthenozoospermia. The purpose of this study was to investigate sperm mtDNA 4,977-bp deletion in infertile men with low sperm motility/immotile spermatozoa compared to healthy subjects with high sperm motility. Semen samples of 256 asthenozoospermic infertiles and 200 controls from northern Iran were collected. After extraction of spermatozoa total DNA, Gap-polymerase chain reaction (Gap-PCR) was performed. The deletion was observed in 85.93% of patients with asthenozoospermia compared with 14% in controls [OR = 37.5397, 95% confidence interval = 12.937-108.9276, p < .0001]. It is concluded that there is a strong association between sperm mtDNA 4,977-bp deletion and asthenozoospermia-induced infertility in the population examined. Large-scale mtDNA deletions in spermatozoa may induce bioenergetic disorders. Nevertheless, to validate our results broader research may be needed.

  2. Characterization of frequently deleted 6q locus in prostate cancer.

    PubMed

    Sun, Mei; Srikantan, Vasantha; Ma, Lanfeng; Li, Jia; Zhang, Wei; Petrovics, Gyorgy; Makarem, Mazen; Strovel, Jeffrey W; Horrigan, Stephen G; Augustus, Meena; Sesterhenn, Isabell A; Moul, Judd W; Chandrasekharappa, Settara; Zou, Zhiqiang; Srivastava, Shiv

    2006-11-01

    The long arm of chromosome 6 is frequently deleted in diverse human neoplasms. Our previous study showed a minimum deletion region between markers D6S1056 and D6S300 on chromosome 6q in primary prostate cancer (CaP). In this study, we further refined a 200-kb minimal region of deletion (6qTSG1) centered around D6S1013 marker. The 6qTSG1 transcripts contained complex multiple splicing variants with low or absent expression in CaP cells. None of the transcripts identified contained open reading frames that code for a protein in the NCBI database. The expression of 6qTSG transcripts revealed interesting hormonal regulation relevant to CaP biology. Expression of 6q TSG transcript was induced in LNCaP cells that were cultured in charcoal-stripped serum medium suggesting an upregulation of 6qTSG transcript by androgen ablation and cell growth inhibition/apoptosis. Induction of 6qTSG1 expression in response to androgen ablation was abrogated in androgen-independent derivatives of LNCaP cells. In summary, we have defined a candidate CaP suppressor locus on chromosome 6q16.1, and deletions of this locus are frequently associated with prostate tumorigenesis. In the light of emerging role of noncoding RNAs in cancer biology including CaP, future investigations of 6qTSG11 locus is warranted.

  3. Genomic anatomy of the Tyrp1 (brown) deletion complex

    PubMed Central

    Smyth, Ian M.; Wilming, Laurens; Lee, Angela W.; Taylor, Martin S.; Gautier, Phillipe; Barlow, Karen; Wallis, Justine; Martin, Sancha; Glithero, Rebecca; Phillimore, Ben; Pelan, Sarah; Andrew, Rob; Holt, Karen; Taylor, Ruth; McLaren, Stuart; Burton, John; Bailey, Jonathon; Sims, Sarah; Squares, Jan; Plumb, Bob; Joy, Ann; Gibson, Richard; Gilbert, James; Hart, Elizabeth; Laird, Gavin; Loveland, Jane; Mudge, Jonathan; Steward, Charlie; Swarbreck, David; Harrow, Jennifer; North, Philip; Leaves, Nicholas; Greystrong, John; Coppola, Maria; Manjunath, Shilpa; Campbell, Mark; Smith, Mark; Strachan, Gregory; Tofts, Calli; Boal, Esther; Cobley, Victoria; Hunter, Giselle; Kimberley, Christopher; Thomas, Daniel; Cave-Berry, Lee; Weston, Paul; Botcherby, Marc R. M.; White, Sharon; Edgar, Ruth; Cross, Sally H.; Irvani, Marjan; Hummerich, Holger; Simpson, Eleanor H.; Johnson, Dabney; Hunsicker, Patricia R.; Little, Peter F. R.; Hubbard, Tim; Campbell, R. Duncan; Rogers, Jane; Jackson, Ian J.

    2006-01-01

    Chromosome deletions in the mouse have proven invaluable in the dissection of gene function. The brown deletion complex comprises >28 independent genome rearrangements, which have been used to identify several functional loci on chromosome 4 required for normal embryonic and postnatal development. We have constructed a 172-bacterial artificial chromosome contig that spans this 22-megabase (Mb) interval and have produced a contiguous, finished, and manually annotated sequence from these clones. The deletion complex is strikingly gene-poor, containing only 52 protein-coding genes (of which only 39 are supported by human homologues) and has several further notable genomic features, including several segments of >1 Mb, apparently devoid of a coding sequence. We have used sequence polymorphisms to finely map the deletion breakpoints and identify strong candidate genes for the known phenotypes that map to this region, including three lethal loci (l4Rn1, l4Rn2, and l4Rn3) and the fitness mutant brown-associated fitness (baf). We have also characterized misexpression of the basonuclin homologue, Bnc2, associated with the inversion-mediated coat color mutant white-based brown (Bw). This study provides a molecular insight into the basis of several characterized mouse mutants, which will allow further dissection of this region by targeted or chemical mutagenesis. PMID:16505357

  4. Divergent viral superantigens delete V beta 5+ T lymphocytes.

    PubMed Central

    Gollob, K J; Palmer, E

    1992-01-01

    Several murine superantigens in association with class II major histocompatibility complex proteins have been shown to cause the deletion of T cells based on the expression of particular beta-chain variable region (V beta) gene segments. We have previously shown that mice expressing the Etc-1 superantigen, encoded by an open reading frame within the 3' long terminal repeat of the endogenous mouse mammary tumor provirus (Mtv), Mtv-9, delete T cells expressing either V beta 5 or V beta 11 gene segments. Comparison of several Mtv 3' long terminal repeat open reading frame sequences has indicated that the carboxyl terminus likely encodes the V beta specificity of these proteins. Our analysis of C57BL/6 x DBA/2 recombinant inbred strains of mouse revealed three Mtv-9-negative strains that nevertheless have a low frequency of V beta 5-expressing T cells. Here we demonstrate that a second endogenous superantigen, responsible for the deletion of V beta 5-bearing T cells, is encoded by a gene mapping to Mtv-6 on chromosome 16. Surprisingly, the carboxyl-terminal sequences of the Mtv-6 and -9 superantigens are extremely divergent, in spite of the fact that they both mediate the deletion of V beta 5+ lymphocytes. Images PMID:1317583

  5. Divergent viral superantigens delete V beta 5+ T lymphocytes.

    PubMed

    Gollob, K J; Palmer, E

    1992-06-01

    Several murine superantigens in association with class II major histocompatibility complex proteins have been shown to cause the deletion of T cells based on the expression of particular beta-chain variable region (V beta) gene segments. We have previously shown that mice expressing the Etc-1 superantigen, encoded by an open reading frame within the 3' long terminal repeat of the endogenous mouse mammary tumor provirus (Mtv), Mtv-9, delete T cells expressing either V beta 5 or V beta 11 gene segments. Comparison of several Mtv 3' long terminal repeat open reading frame sequences has indicated that the carboxyl terminus likely encodes the V beta specificity of these proteins. Our analysis of C57BL/6 x DBA/2 recombinant inbred strains of mouse revealed three Mtv-9-negative strains that nevertheless have a low frequency of V beta 5-expressing T cells. Here we demonstrate that a second endogenous superantigen, responsible for the deletion of V beta 5-bearing T cells, is encoded by a gene mapping to Mtv-6 on chromosome 16. Surprisingly, the carboxyl-terminal sequences of the Mtv-6 and -9 superantigens are extremely divergent, in spite of the fact that they both mediate the deletion of V beta 5+ lymphocytes.

  6. Commentary: The Thrill of Professionalization and the Agony of Deletes

    ERIC Educational Resources Information Center

    Waite, Susan Field; Leavell, Judy A.

    2006-01-01

    Although some teacher educators hoped that the creation and use of standards would help to professionalize teaching, the discourse of standards and accountability is now being used to erode teacher education. Many teacher educators who anticipated the thrill of professionalization through standards are now experiencing the agony of deletes,…

  7. Case-Deletion Diagnostics for Nonlinear Structural Equation Models

    ERIC Educational Resources Information Center

    Lee, Sik-Yum; Lu, Bin

    2003-01-01

    In this article, a case-deletion procedure is proposed to detect influential observations in a nonlinear structural equation model. The key idea is to develop the diagnostic measures based on the conditional expectation of the complete-data log-likelihood function in the EM algorithm. An one-step pseudo approximation is proposed to reduce the…

  8. 36 CFR 1275.58 - Deletion of restricted portions.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 36 Parks, Forests, and Public Property 3 2010-07-01 2010-07-01 false Deletion of restricted portions. 1275.58 Section 1275.58 Parks, Forests, and Public Property NATIONAL ARCHIVES AND RECORDS ADMINISTRATION NIXON PRESIDENTIAL MATERIALS PRESERVATION AND PROTECTION OF AND ACCESS TO THE...

  9. The detection of large deletions or duplications in genomic DNA.

    PubMed

    Armour, J A L; Barton, D E; Cockburn, D J; Taylor, G R

    2002-11-01

    While methods for the detection of point mutations and small insertions or deletions in genomic DNA are well established, the detection of larger (>100 bp) genomic duplications or deletions can be more difficult. Most mutation scanning methods use PCR as a first step, but the subsequent analyses are usually qualitative rather than quantitative. Gene dosage methods based on PCR need to be quantitative (i.e., they should report molar quantities of starting material) or semi-quantitative (i.e., they should report gene dosage relative to an internal standard). Without some sort of quantitation, heterozygous deletions and duplications may be overlooked and therefore be under-ascertained. Gene dosage methods provide the additional benefit of reporting allele drop-out in the PCR. This could impact on SNP surveys, where large-scale genotyping may miss null alleles. Here we review recent developments in techniques for the detection of this type of mutation and compare their relative strengths and weaknesses. We emphasize that comprehensive mutation analysis should include scanning for large insertions and deletions and duplications. Copyright 2002 Wiley-Liss, Inc.

  10. Gene deletion in an Italian haemophilia B subject.

    PubMed Central

    Bernardi, F; del Senno, L; Barbieri, R; Buzzoni, D; Gambari, R; Marchetti, G; Conconi, F; Panicucci, F; Positano, M; Pitruzzello, S

    1985-01-01

    DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal. Images PMID:4045960

  11. 76 FR 43990 - Procurement List; Proposed Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-07-22

    ... Deletion from the Procurement List. SUMMARY: The Committee is proposing to add products and services to the... products and services listed below from nonprofit agencies employing persons who are blind or have other... furnish the products and services to the Government. 2. If approved, the action will result in...

  12. 77 FR 65365 - Procurement List; Proposed Addition and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-10-26

    ...: Goodwill Easter Seals Miami Valley, Dayton, OH. Contracting Activity: U.S. Government Accountability Office... products are proposed for deletion from the Procurement List: Products Presentation Sheets, ``SmartChart...), Seattle, WA. Contracting Activity: General Services Administration, New York, NY. Computer Accessories NSN...

  13. Multigene deletions in lung adenocarcinomas from irradiated and control mice

    SciTech Connect

    Zhang, Y.; Woloschak, G.E.

    1996-06-01

    K-ras codon 12 point mutations mRb and p53 gene deletions were examined in tissues from 120 normal lungs and lung adenocarcinomas that were Formalin-treated and paraffin-embedded 25 years ago. The results showed that 12 of 60 (20%) lung adenocarcinomas had mRb deletions. All lung adenocarcinomas that were initially found bearing deleted mRb had p53 deletions (15 of 15; 100%). A significantly higher mutation frequency for K-ras codon 12 point mutations was also found in the lung adenocarcinomas from mice exposed to 24 once-weekly neutron irradiation (10 of 10; 100%) compared with those exposed to 24 or 60 once-weekly {gamma}-ray doses (5 of 10; 50%). The data suggested that p53 and K-ras gene alterations were two contributory factors responsible for the increased incidence of lung adenocarcinoma in B6CF{sub 1} male mice exposed to protracted neutron radiation.

  14. 78 FR 25970 - Procurement List; Proposed Additions and Deletion

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-03

    ... PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List; Proposed Additions and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed Additions to and... or Before: 6/3/2013. ADDRESSES: Committee for Purchase From People Who Are Blind or Severely Disabled...

  15. 78 FR 32631 - Procurement List; Proposed Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-31

    ... PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List; Proposed Additions and Deletions AGENCY: Committee for Purchase from People Who are Blind or Severely Disabled. ACTION: Proposed Additions to and... or Before: 7/1/2013. ADDRESSES: Committee for Purchase From People Who Are Blind or Severely Disabled...

  16. Oncolytic Replication of E1b-Deleted Adenoviruses

    PubMed Central

    Cheng, Pei-Hsin; Wechman, Stephen L.; McMasters, Kelly M.; Zhou, Heshan Sam

    2015-01-01

    Various viruses have been studied and developed for oncolytic virotherapies. In virotherapy, a relatively small amount of viruses used in an intratumoral injection preferentially replicate in and lyse cancer cells, leading to the release of amplified viral particles that spread the infection to the surrounding tumor cells and reduce the tumor mass. Adenoviruses (Ads) are most commonly used for oncolytic virotherapy due to their infection efficacy, high titer production, safety, easy genetic modification, and well-studied replication characteristics. Ads with deletion of E1b55K preferentially replicate in and destroy cancer cells and have been used in multiple clinical trials. H101, one of the E1b55K-deleted Ads, has been used for the treatment of late-stage cancers as the first approved virotherapy agent. However, the mechanism of selective replication of E1b-deleted Ads in cancer cells is still not well characterized. This review will focus on three potential molecular mechanisms of oncolytic replication of E1b55K-deleted Ads. These mechanisms are based upon the functions of the viral E1B55K protein that are associated with p53 inhibition, late viral mRNA export, and cell cycle disruption. PMID:26561828

  17. 76 FR 9555 - Procurement List; Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-02-18

    ... service are deleted from the Procurement List: Products NSN: 7510-01-555-6167--Inkjet printer cartridge. NSN: 7510-01-555-6168--Inkjet printer cartridge. NSN: 7510-01-555-6169--Inkjet printer cartridge. NSN: 7510-01-555-6170--compatible with Epson Part No. T018201. Tri- color. NSN:...

  18. Induced pluripotent stem cells with a pathological mitochondrial DNA deletion

    PubMed Central

    Cherry, Anne B. C.; Gagne, Katelyn E.; McLoughlin, Erin M.; Baccei, Anna; Gorman, Bryan; Hartung, Odelya; Miller, Justine D.; Zhang, Jin; Zon, Rebecca L.; Ince, Tan A.; Neufeld, Ellis J.; Lerou, Paul H.; Fleming, Mark D.; Daley, George Q.; Agarwal, Suneet

    2013-01-01

    In congenital mitochondrial DNA (mtDNA) disorders, a mixture of normal and mutated mtDNA (termed heteroplasmy) exists at varying levels in different tissues, which determines the severity and phenotypic expression of disease. Pearson marrow pancreas syndrome (PS) is a congenital bone marrow failure disorder caused by heteroplasmic deletions in mtDNA. The cause of the hematopoietic failure in PS is unknown, and adequate cellular and animal models are lacking. Induced pluripotent stem (iPS) cells are particularly amenable for studying mtDNA disorders, as cytoplasmic genetic material is retained during direct reprogramming. Here we derive and characterize iPS cells from a patient with PS. Taking advantage of the tendency for heteroplasmy to change with cell passage, we isolated isogenic PS-iPS cells without detectable levels of deleted mtDNA. We found that PS-iPS cells carrying a high burden of deleted mtDNA displayed differences in growth, mitochondrial function, and hematopoietic phenotype when differentiated in vitro, compared to isogenic iPS cells without deleted mtDNA. Our results demonstrate that reprogramming somatic cells from patients with mtDNA disorders can yield pluripotent stem cells with varying burdens of heteroplasmy that might be useful in the study and treatment of mitochondrial diseases. PMID:23400930

  19. Genetics Home Reference: 22q11.2 deletion syndrome

    MedlinePlus

    ... Weissman A, Gerdes M, Pinto-Martin J, Zackai EH, McDonald-McGinn DM, Emanuel BS. Autism spectrum disorders ... PubMed Central McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [updated ...

  20. 76 FR 14942 - Procurement List; Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-03-18

    ... nonprofit agencies employing persons who are blind or have other severe disabilities, and deletes products...-service area; clean and sanitize food service equipment, utensil cleaning, and dishwashing; clean pots... management and operational control of the DFAC. Service Type/Location: Laundry & Dry Cleaning Service,...

  1. 76 FR 30924 - Procurement List Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-27

    ... added to the Procurement List: Products NSN: 7920-01-215-6568--Towel, Highly Absorbent, Synthetic ``Shammy'' 15x15. NSN: 7920-01-215-6569--Towel, Highly Absorbent, Synthetic ``Shammy'' 20x23. NPA... products are deleted from the Procurement List: Products Paper, Toilet Tissue NSN: 8540-01-483-8992. NPA...

  2. PC/FRAM, Version 3.2 User Manual

    SciTech Connect

    Kelley, T.A.; Sampson, T.E.

    1999-02-23

    This manual describes the use of version 3.2 of the PC/FRAM plutonium isotopic analysis software developed in the Safeguards Science and Technology Group, NE-5, Nonproliferation and International Security Division Los Alamos National Laboratory. The software analyzes the gamma ray spectrum from plutonium-bearing items and determines the isotopic distribution of the plutonium 241Am content and concentration of other isotopes in the item. The software can also determine the isotopic distribution of uranium isotopes in items containing only uranium. The body of this manual descnies the generic version of the code. Special facility-specific enhancements, if they apply, will be described in the appendices. The information in this manual applies equally well to version 3.3, which has been licensed to ORTEC. The software can analyze data that is stored in a file on disk. It understands several storage formats including Canberra's S1OO format, ORTEC'S `chn' and `SPC' formats, and several ASCII text formats. The software can also control data acquisition using an MCA and then store the results in a file on disk for later analysis or analyze the spectrum directly after the acquisition. The software currently only supports the control of ORTEC MCB'S. Support for Canbema's Genie-2000 Spectroscopy Systems will be added in the future. Support for reading and writing CAM files will also be forthcoming. A versatile parameter fde database structure governs all facets of the data analysis. User editing of the parameter sets allows great flexibility in handling data with different isotopic distributions, interfering isotopes, and different acquisition parameters such as energy calibration, and detector type. This manual is intended for the system supervisor or the local user who is to be the resident expert. Excerpts from this manual may also be appropriate for the system operator who will routinely use the instrument.

  3. Evaluating shortened versions of the AUDIT as screeners for alcohol use problems in a general population study

    PubMed Central

    Nayak, Madhabika B.; Bond, Jason C.; Greenfield, Thomas K.

    2015-01-01

    Background Efficient alcohol screening measures are important to prevent or treat alcohol use disorders (AUDs). Objectives We studied different versions of the Alcohol Use Disorders Identification Test (AUDIT) comparing their performance to the full AUDIT and an AUD measure as screeners for alcohol use problems in Goa, India. Methods Data from a general population study on 743 male drinkers aged 18 to 49 years are reported. Drinkers completed the AUDIT and an AUD measure. We created shorter versions of the AUDIT by a) collapsing AUDIT item responses into 3 and 2 categories and b) deleting 2 items with the lowest factor loadings. Each version was evaluated using factor, reliability and validity, and differential item functioning (DIF) analysis by age, education, standard of living index (SLI), and area of residence. Results A single factor solution was found for each version with lower factor loadings for items on guilt and concern. There were no significant differences among the different AUDIT versions in predicting AUD. No significant DIF was found by education, SLI or area of residence. DIF was observed for the alcohol frequency item by age. Conclusions/Importance The AUDIT may be used with dichotomized response options without loss of predictive validity. A shortened 8-item dichotomized scale can adequately screen for AUDs in Goa when brevity is of paramount importance, although with lower predictive validity. Although the frequency item was endorsed more by older men, there is no evidence that the AUDIT items perform differently in other groups of male drinkers in Goa. PMID:26549791

  4. Evaluating Shortened Versions of the AUDIT as Screeners for Alcohol Use Problems in a General Population Study.

    PubMed

    Nayak, Madhabika B; Bond, Jason C; Greenfield, Thomas K

    2015-01-01

    Efficient alcohol screening measures are important to prevent or treat alcohol use disorders (AUDs). We studied different versions of the Alcohol Use Disorders Identification Test (AUDIT) comparing their performance to the full AUDIT and an AUD measure as screeners for alcohol use problems in Goa, India. Data from a general population study on 743 male drinkers aged 18-49 years are reported. Drinkers completed the AUDIT and an AUD measure. We created shorter versions of the AUDIT by (a) collapsing AUDIT item responses into three and two categories and (b) deleting two items with the lowest factor loadings. Each version was evaluated using factor, reliability and validity, and differential item functioning (DIF) analysis by age, education, standard of living index (SLI), and area of residence. A single factor solution was found for each version with lower factor loadings for items on guilt and concern. There were no significant differences among the different AUDIT versions in predicting AUD. No significant DIF was found by education, SLI or area of residence. DIF was observed for the alcohol frequency item by age. The AUDIT may be used with dichotomized response options without loss of predictive validity. A shortened eight-item dichotomized scale can adequately screen for AUDs in Goa when brevity is of paramount importance, although with lower predictive validity. Although the frequency item was endorsed more by older men, there is no evidence that the AUDIT items perform differently in other groups of male drinkers in Goa.

  5. Laboratory Information Systems.

    PubMed

    Henricks, Walter H

    2015-06-01

    Laboratory information systems (LISs) supply mission-critical capabilities for the vast array of information-processing needs of modern laboratories. LIS architectures include mainframe, client-server, and thin client configurations. The LIS database software manages a laboratory's data. LIS dictionaries are database tables that a laboratory uses to tailor an LIS to the unique needs of that laboratory. Anatomic pathology LIS (APLIS) functions play key roles throughout the pathology workflow, and laboratories rely on LIS management reports to monitor operations. This article describes the structure and functions of APLISs, with emphasis on their roles in laboratory operations and their relevance to pathologists.

  6. CBP TOOLBOX VERSION 2.0: CODE INTEGRATION ENHANCEMENTS

    SciTech Connect

    Smith, F.; Flach, G.; BROWN, K.

    2013-06-01

    This report describes enhancements made to code integration aspects of the Cementitious Barriers Project (CBP) Toolbox as a result of development work performed at the Savannah River National Laboratory (SRNL) in collaboration with Vanderbilt University (VU) in the first half of fiscal year 2013. Code integration refers to the interfacing to standalone CBP partner codes, used to analyze the performance of cementitious materials, with the CBP Software Toolbox. The most significant enhancements are: 1) Improved graphical display of model results. 2) Improved error analysis and reporting. 3) Increase in the default maximum model mesh size from 301 to 501 nodes. 4) The ability to set the LeachXS/Orchestra simulation times through the GoldSim interface. These code interface enhancements have been included in a new release (Version 2.0) of the CBP Toolbox.

  7. Sandia Visualization Tools, version 2.2.5.

    SciTech Connect

    Yarberry, Victor; & Jorgensen, Craig

    2010-01-19

    This is an update to the Sandia Advanced MEMS Design Tools 2.2. It replaces all previous versions. New features in this version: Updated AutoCAD macros to work with Microsoft Update KB960715. Added support for AutoCAD 2010. Added VBA files for 64-bit AutoCAD 2010. Added Hyperlinks to DRC result geometry. Added 48-pin module to CompLib. Changed FirstDRC to display error count and description. Updated lower case "x" char to eliminate false DRC errors. This CD contains an integrated set of electronic files that: a) Describe the SUMMiT V fabrication process b) Provide enabling educational information (including pictures, videos, technical information) c) Facilitate the process of designing MEMS with the SUMMiT process (prototype file, Design Rule Checker, Standard Parts Library) d) Facilitate the process of having MEMS fabricated at Sandia National Laboratories e) Facilitate the process of having post-fabrication services performed. While there exists some files on the CD that are used in conjunction with software package AutoCAD, these files are not intended for use independent of the CD. Note that the customer must purchase his/her own copy of AutoCAD to use with these files.

  8. Synthetic Biology Open Language (SBOL) Version 2.1.0.

    PubMed

    Beal, Jacob; Cox, Robert Sidney; Grünberg, Raik; McLaughlin, James; Nguyen, Tramy; Bartley, Bryan; Bissell, Michael; Choi, Kiri; Clancy, Kevin; Macklin, Chris; Madsen, Curtis; Misirli, Goksel; Oberortner, Ernst; Pocock, Matthew; Roehner, Nicholas; Samineni, Meher; Zhang, Michael; Zhang, Zhen; Zundel, Zach; Gennari, John; Myers, Chris; Sauro, Herbert; Wipat, Anil

    2016-12-18

    Synthetic biology builds upon the techniques and successes of genetics, molecular biology, and metabolic engineering by applying engineering principles to the design of biological systems. The field still faces substantial challenges, including long development times, high rates of failure, and poor reproducibility. One method to ameliorate these problems would be to improve the exchange of information about designed systems between laboratories. The Synthetic Biology Open Language (SBOL) has been developed as a standard to support the specification and exchange of biological design information in synthetic biology, filling a need not satisfied by other pre-existing standards. This document details version 2.1 of SBOL that builds upon version 2.0 published in last year’s JIB special issue. In particular, SBOL 2.1 includes improved rules for what constitutes a valid SBOL document, new role fields to simplify the expression of sequence features and how components are used in context, and new best practices descriptions to improve the exchange of basic sequence topology information and the description of genetic design provenance, as well as miscellaneous other minor improvements.

  9. Description of input and examples for PHREEQC version 3: a computer program for speciation, batch-reaction, one-dimensional transport, and inverse geochemical calculations

    USGS Publications Warehouse

    Parkhurst, David L.; Appelo, C.A.J.

    2013-01-01

    PHREEQC version 3 is a computer program written in the C and C++ programming languages that is designed to perform a wide variety of aqueous geochemical calculations. PHREEQC implements several types of aqueous models: two ion-association aqueous models (the Lawrence Livermore National Laboratory model and WATEQ4F), a Pitzer specific-ion-interaction aqueous model, and the SIT (Specific ion Interaction Theory) aqueous model. Using any of these aqueous models, PHREEQC has capabilities for (1) speciation and saturation-index calculations; (2) batch-reaction and one-dimensional (1D) transport calculations with reversible and irreversible reactions, which include aqueous, mineral, gas, solid-solution, surface-complexation, and ion-exchange equilibria, and specified mole transfers of reactants, kinetically controlled reactions, mixing of solutions, and pressure and temperature changes; and (3) inverse modeling, which finds sets of mineral and gas mole transfers that account for differences in composition between waters within specified compositional uncertainty limits. Many new modeling features were added to PHREEQC version 3 relative to version 2. The Pitzer aqueous model (pitzer.dat database, with keyword PITZER) can be used for high-salinity waters that are beyond the range of application for the Debye-Hückel theory. The Peng-Robinson equation of state has been implemented for calculating the solubility of gases at high pressure. Specific volumes of aqueous species are calculated as a function of the dielectric properties of water and the ionic strength of the solution, which allows calculation of pressure effects on chemical reactions and the density of a solution. The specific conductance and the density of a solution are calculated and printed in the output file. In addition to Runge-Kutta integration, a stiff ordinary differential equation solver (CVODE) has been included for kinetic calculations with multiple rates that occur at widely different time scales

  10. Deletion affecting band 7q36 not associated with holoprosencephaly

    SciTech Connect

    Ebrahim, S.A.D.; Krivchenia, E.; Mohamed, A.N.

    1994-09-01

    Although the appearance of 7q36 aberrations have been postulated to be responsible for holoprosencephaly (HPE), the presence of a de novo 7q36 deletion in fetus without HPE has not been reported. We report the first case of a fetus with 7q36 deletion but lacking HPE. Ultrasound examination of a 25-year-old G3P1 Caucasian female showed small head circumference with microcephaly at 28 weeks. Decreased amniotic fluid volume, bilateral renal dilatation and abnormal facial features were also noted. Chromosome analysis after cordocentesis showed an abnormal female karyotype with a deletion involving the chromosome band 7q36, 46,XX,del(7)(q36). Chromosome studies on the biological parents were normal. In view of the chromosome finding and after extensive counseling, the couple elected to terminate the pregnancy. The chromosome findings were confirmed by fetal blood chromosome analysis at termination. Post-mortem examination confirmed dysmorphic features including a depressed nasal bridge and large flat ears with no lobules, but no cleft lip or palate was noted. Internal abnormalities included a bicuspid pulmonary valve and abnormally located lungs. The brain weighed 190g (249 {plus_minus} 64g expected) and had symmetric cerebral hemispheres without evidence of HPE or other gross or microscopic malformation, except focal cerebellar cortical dysplasia. In summary, our patient showed a deletion of the same chromosomal band implicated in HPE but lacked HPE. This finding indicates that 7q36 deletion may be seen in the absence of HPE and suggests that other genetic mechanisms may be responsible for HPE in this setting.

  11. Generation of Targeted Deletions in the Genome of Rhodothermus marinus▿

    PubMed Central

    Bjornsdottir, Snaedis H.; Fridjonsson, Olafur H.; Hreggvidsson, Gudmundur O.; Eggertsson, Gudmundur

    2011-01-01

    The aim of this work was to develop an approach for chromosomal engineering of the thermophile Rhodothermus marinus. A selection strategy for R. marinus had previously been developed; this strategy was based on complementing a restriction-negative trpB strain with the R. marinus trpB gene. The current work identified an additional selective marker, purA, which encodes adenylosuccinate synthase and confers adenine prototrophy. In a two-step procedure, the available Trp+ selection was used during the deletion of purA from the R. marinus chromosome. The alternative Ade+ selection was in turn used while deleting the endogenous trpB gene. Since both deletions are unmarked, the purA and trpB markers may be reused. Through the double deletant SB-62 (ΔtrpB ΔpurA), the difficulties that are associated with spontaneous revertants and unintended chromosomal integration of marker-containing molecules are circumvented. The selection efficiency in R. marinus strain SB-62 (ΔtrpB ΔpurA) was demonstrated by targeting putative carotenoid biosynthesis genes, crtBI, using a linear molecule containing a marked deletion with 717 and 810 bp of 5′ and 3′ homologous sequences, respectively. The resulting Trp+ transformants were colorless rather than orange-red. The correct replacement of an internal crtBI fragment with the trpB marker was confirmed by Southern hybridization analysis of the transformants. Thus, it appears that target genes in the R. marinus chromosome can be readily replaced with linear molecules in a single step by double-crossover recombination. PMID:21705543

  12. Annotated bibliography of software engineering laboratory literature

    NASA Technical Reports Server (NTRS)

    Kistler, David; Bristow, John; Smith, Don

    1994-01-01

    This document is an annotated bibliography of technical papers, documents, and memorandums produced by or related to the Software Engineering Laboratory. Nearly 200 publications are summarized. These publications cover many areas of software engineering and range from research reports to software documentation. This document has been updated and reorganized substantially since the original version (SEL-82-006, November 1982). All materials have been grouped into eight general subject areas for easy reference: (1) The Software Engineering Laboratory; (2) The Software Engineering Laboratory: Software Development Documents; (3) Software Tools; (4) Software Models; (5) Software Measurement; (6) Technology Evaluations; (7) Ada Technology; and (8) Data Collection. This document contains an index of these publications classified by individual author.

  13. Laboratory Animal Facilities. Laboratory Design Notes.

    ERIC Educational Resources Information Center

    Jonas, Albert M.

    1965-01-01

    Design of laboratory animal facilities must be functional. Accordingly, the designer should be aware of the complex nature of animal research and specifically the type of animal research which will be conducted in a new facility. The building of animal-care facilities in research institutions requires special knowledge in laboratory animal…

  14. Examining Equivalency of the Driver Risk Inventory Test Versions: Does It Matter Which Version I Use?

    ERIC Educational Resources Information Center

    Degiorgio, Lisa

    2015-01-01

    Equivalency of test versions is often assumed by counselors and evaluators. This study examined two versions, paper-pencil and computer based, of the Driver Risk Inventory, a DUI/DWI (driving under the influence/driving while intoxicated) risk assessment. An overview of computer-based testing and standards for equivalency is also provided. Results…

  15. Examining Equivalency of the Driver Risk Inventory Test Versions: Does It Matter Which Version I Use?

    ERIC Educational Resources Information Center

    Degiorgio, Lisa

    2015-01-01

    Equivalency of test versions is often assumed by counselors and evaluators. This study examined two versions, paper-pencil and computer based, of the Driver Risk Inventory, a DUI/DWI (driving under the influence/driving while intoxicated) risk assessment. An overview of computer-based testing and standards for equivalency is also provided. Results…

  16. New developments in program STANSOL version 3

    SciTech Connect

    Gray, W.H.

    1981-10-01

    STANSOL is a computer program that applied a solution for the mechanical displacement, stress, and strain in rotationally-transversely isotropic, homogeneous, axisymmetric solenoids. Careful application of the solution permits the complex mechanical behavior of multilayered, nonhomogeneous solenoids to be examined in which the loads may vary arbitrarily from layer to layer. Loads applied to the solenoid model by program STANSOL may consist of differential temperature, winding preload, internal and/or external surface pressure, and electromagnetic Lorentz body forces. STANSOL version 3, the latest update to the original version of the computer program, also permits structural analysis of solenoid magnets in which frictionless interlayer gaps may open or close. This paper presents the new theory coded into version 3 of the STANSOL program, as well as the new input data format and graphical output display of the resulting analysis.

  17. Spanish version of Colquitt's Organizational Justice Scale.

    PubMed

    Díaz-Gracia, Liliana; Barbaranelli, Claudio; Moreno-Jiménez, Bernardo

    2014-01-01

    Organizational justice (OJ) is an important predictor of different work attitudes and behaviors. Colquitt's Organizational Justice Scale (COJS) was designed to assess employees' perceptions of fairness. This scale has four dimensions: distributive, procedural, informational, and interpersonal justice. The objective of this study is to validate it in a Spanish sample. The scale was administered to 460 Spanish employees from the service sector. 40.4% were men and 59.6% women. The Confirmatory Factor Analysis (CFA) supported the four dimensions structure for Spanish version of COJS. This model showed a better fit to data that the others models tested. Cronbach's alpha obtained for subscales ranged between .88 and .95. Correlations of the Spanish version of COJS with measures of incivility and job satisfaction were statistically significant and had a moderate to high magnitude, indicating a reasonable degree of construct validity. The Spanish version of COJS has adequate psychometric properties and may be of value in assessing OJ in Spanish setting.

  18. 16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks.

    PubMed

    Yang, Mu; Lewis, Freeman C; Sarvi, Michael S; Foley, Gillian M; Crawley, Jacqueline N

    2015-12-01

    Chromosomal 16p11.2 deletion syndrome frequently presents with intellectual disabilities, speech delays, and autism. Here we investigated the Dolmetsch line of 16p11.2 heterozygous (+/-) mice on a range of cognitive tasks with different neuroanatomical substrates. Robust novel object recognition deficits were replicated in two cohorts of 16p11.2+/- mice, confirming previous findings. A similarly robust deficit in object location memory was discovered in +/-, indicating impaired spatial novelty recognition. Generalizability of novelty recognition deficits in +/- mice extended to preference for social novelty. Robust learning deficits and cognitive inflexibility were detected using Bussey-Saksida touchscreen operant chambers. During acquisition of pairwise visual discrimination, +/- mice required significantly more training trials to reach criterion than wild-type littermates (+/+), and made more errors and correction errors than +/+. In the reversal phase, all +/+ reached criterion, whereas most +/- failed to reach criterion by the 30-d cutoff. Contextual and cued fear conditioning were normal in +/-. These cognitive phenotypes may be relevant to some aspects of cognitive impairments in humans with 16p11.2 deletion, and support the use of 16p11.2+/- mice as a model system for discovering treatments for cognitive impairments in 16p11.2 deletion syndrome. © 2015 Yang et al.; Published by Cold Spring Harbor Laboratory Press.

  19. [Catch-22? Wide variety of phenotypes associated with the chromosome 22q11 deletion syndrome in two patients].

    PubMed

    Till, Ágnes; Hadzsiev, Kinga; Lőcsei-Fekete, Anett; Czakó, Márta; Duga, Balázs; Melegh, Béla

    2015-11-08

    The chromosome 22q11 deletion syndrome may present with a variety of phenotypes. Its symptoms generally include a characteristic facial dysmorphisms and multiplex developmental disorders. Fluorescence in situ hybridization is the current method of choice for the diagnosis if typical multiple defects and/or symptoms are present. The authors present the history of two patients who were followed-up for minor anomalies and various developmental disorders for several years in the genetic counseling office of the authors, but definitive diagnosis was not established. However, when DNA samples of the two patients were recently tested with array comparative genome hybridization, a diagnostic method which has already been used in their institute for several years, the results indicated deletion of the 11.2 region on the long arm of chromosome 22 in both patients. The authors draw attention to the incidence and wide phenotypic spectrum of the chromosome 22q11 deletion syndrome, and show that its identification can be aided with the novel molecular cytogenetic method available in their laboratory.

  20. Deletion of L4 domains reveals insights into the importance of ribosomal protein extensions in eukaryotic ribosome assembly.

    PubMed

    Gamalinda, Michael; Woolford, John L

    2014-11-01

    Numerous ribosomal proteins have a striking bipartite architecture: a globular body positioned on the ribosomal exterior and an internal loop buried deep into the rRNA core. In eukaryotes, a significant number of conserved r-proteins have evolved extra amino- or carboxy-terminal tail sequences, which thread across the solvent-exposed surface. The biological importance of these extended domains remains to be established. In this study, we have investigated the universally conserved internal loop and the eukaryote-specific extensions of yeast L4. We show that in contrast to findings with bacterial L4, deleting the internal loop of yeast L4 causes severely impaired growth and reduced levels of large ribosomal subunits. We further report that while depleting the entire L4 protein blocks early assembly steps in yeast, deletion of only its extended internal loop affects later steps in assembly, revealing a second role for L4 during ribosome biogenesis. Surprisingly, deletion of the entire eukaryote-specific carboxy-terminal tail of L4 has no effect on viability, production of 60S subunits, or translation. These unexpected observations provide impetus to further investigate the functions of ribosomal protein extensions, especially eukaryote-specific examples, in ribosome assembly and function. © 2014 Gamalinda and Woolford; Published by Cold Spring Harbor Laboratory Press for the RNA Society.

  1. Unexpected effects of gene deletion on mercury interactions with the methylation-deficient mutant hgcAB

    SciTech Connect

    Lin, Hui; Hurt, Jr., Richard Ashley; Johs, Alexander; Parks, Jerry M; Morrell-Falvey, Jennifer L; Liang, Liyuan; Elias, Dwayne A; Gu, Baohua

    2014-01-01

    The hgcA and hgcB gene pair is essential for mercury (Hg) methylation by certain anaerobic bacteria,1 but little is known about how deletion of hgcAB affects cell surface interactions and intracellular uptake of Hg. Here, we compare hgcAB mutants with the wild-type (WT) strains of both Geobacter sulfurreducens PCA and Desulfovibrio desulfuricans ND132 and observe differences in Hg redox transformations, adsorption, and uptake in laboratory incubation studies. In both strains, deletion of hgcAB increased the reduction of Hg(II) but decreased the oxidation of Hg(0) under anaerobic conditions. The measured cellular thiol content in hgcAB mutants was lower than the WT, accounting for decreased adsorption and uptake of Hg. Despite the lack of methylation activity, Hg uptake by the hgcAB continued, albeit at a slower rate than the WT. These findings demonstrate that deletion of the hgcAB gene not only eliminates Hg methylation but also alters cell physiology, resulting in changes to Hg redox reactions, sorption, and uptake by cells.

  2. AutoGen Version 5.0

    NASA Technical Reports Server (NTRS)

    Gladden, Roy E.; Khanampornpan, Teerapat; Fisher, Forest W.

    2010-01-01

    Version 5.0 of the AutoGen software has been released. Previous versions, variously denoted Autogen and autogen, were reported in two articles: Automated Sequence Generation Process and Software (NPO-30746), Software Tech Briefs (Special Supplement to NASA Tech Briefs), September 2007, page 30, and Autogen Version 2.0 (NPO- 41501), NASA Tech Briefs, Vol. 31, No. 10 (October 2007), page 58. To recapitulate: AutoGen (now signifying automatic sequence generation ) automates the generation of sequences of commands in a standard format for uplink to spacecraft. AutoGen requires fewer workers than are needed for older manual sequence-generation processes, and greatly reduces sequence-generation times. The sequences are embodied in spacecraft activity sequence files (SASFs). AutoGen automates generation of SASFs by use of another previously reported program called APGEN. AutoGen encodes knowledge of different mission phases and of how the resultant commands must differ among the phases. AutoGen also provides means for customizing sequences through use of configuration files. The approach followed in developing AutoGen has involved encoding the behaviors of a system into a model and encoding algorithms for context-sensitive customizations of the modeled behaviors. This version of AutoGen addressed the MRO (Mars Reconnaissance Orbiter) primary science phase (PSP) mission phase. On previous Mars missions this phase has more commonly been referred to as mapping phase. This version addressed the unique aspects of sequencing orbital operations and specifically the mission specific adaptation of orbital operations for MRO. This version also includes capabilities for MRO s role in Mars relay support for UHF relay communications with the MER rovers and the Phoenix lander.

  3. User s Guide for REFoffSpec Version 1.5.4

    SciTech Connect

    Ward, Richard C; Bilheux, Jean-Christophe; Lauter, Valeria; Ambaye, Haile Arena

    2012-09-01

    This document is a user s guide for the IDL software REFoffSpec version 1.5.4 whose purpose is to aggregate for analysis NeXus data files from the magnetism and liquids reflectometer experiments at the Oak Ridge National Laboratory Spallation Neutron Source. The software is used to scale and align multiple data files that constitute a continuous set for an experimental run. The User s Guide for REFoffSepc explains step by step the process using a specific example run. Output screens are provided to orient the user at each step. The guide documents in detail changes made to the original REFoffSpec code during the period November 2009 and January 2011. At the time of the completion of this version of the code it was accessible from the sns_tools interface as a beta version.

  4. 75 FR 34703 - Procurement List; Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-06-18

    ...-0095--JR Deluxe Time Management System-Black NSN: 7530-01-537-7818L--DAYMAX System, JR Version, 2009, Black w/ Logo NSN: 7530-01-537-7819L--DAYMAX System, JR Version, 2009, Navy w/Logo NSN: 7530-01-537..., Black w/Logo NSN: 7530-01-537-7824L--DAYMAX System, IE, 2009, Navy w/Logo NSN:...

  5. Microscopic chromosome Xp distal deletions--a challenging issue in prenatal genetic counseling.

    PubMed

    Sukenik-Halevy, Rivka; Reches, Adi; Bar-Shira, Anat; Simchoni, Sharon; Goldstein, Myriam; Orr-Ortreger, Avi; Yaron, Yuval; Ben-Shachar, Shay

    2014-06-01

    A prenatal diagnosis of chromosome X short arm deletions may present a challenge in prenatal genetic counseling. We present clinical and molecular data of carriers of Xp distal deletions. We assessed prenatal and postnatal phenotypes of individuals from three families with large Xp distal deletions and from a fourth family with a small Xp distal deletion. The work-up included karyotyping, chromosomal microarray analysis, and assessment of the X inactivation pattern. Five out of eight women with large deletions had a short stature (<3rd percentile). Subjects from one family had developmental and emotional problems. All female carriers with small deletions had markedly short stature, whereas the men had mildly short stature. Chromosomal microarray analysis revealed 11.7-19.3 Mb deletions in three families and a small ~1 Mb deletion in the fourth. The pseudoautosomal region 1 of the X chromosome was deleted in two families with large deletions. X inactivation was skewed in all tested cases with large deletions. Xp distal deletions are mainly associated with short stature. Skewing of the abnormal X chromosome may attenuate the phenotype in cases with large deletions. We suggest that prenatal evaluation in such cases should include sonographic follow-up and assessment of the X inactivation pattern. © 2014 John Wiley & Sons, Ltd.

  6. An Improved Version of TOPAZ 3D

    SciTech Connect

    Krasnykh, Anatoly

    2003-07-29

    An improved version of the TOPAZ 3D gun code is presented as a powerful tool for beam optics simulation. In contrast to the previous version of TOPAZ 3D, the geometry of the device under test is introduced into TOPAZ 3D directly from a CAD program, such as Solid Edge or AutoCAD. In order to have this new feature, an interface was developed, using the GiD software package as a meshing code. The article describes this method with two models to illustrate the results.

  7. STS-115 EVA training at the Neutral Buoyancy Laboratory (NBL)

    NASA Image and Video Library

    2002-09-26

    JSC2002-E-39736 (26 September 2002) --- Astronaut Steven G. MacLean, STS-115 mission specialist, attired in a training version of the Extravehicular Mobility Unit (EMU) space suit, is about to begin a training session in the Neutral Buoyancy Laboratory (NBL) near the Johnson Space Center (JSC). MacLean represents the Canadian Space Agency.

  8. STS-115 EVA training at the Neutral Buoyancy Laboratory (NBL)

    NASA Image and Video Library

    2002-09-26

    JSC2002-E-39735 (26 September 2002) --- Astronaut Daniel C. Burbank, STS-115 mission specialist, attired in a training version of the Extravehicular Mobility Unit (EMU) space suit, is about to begin a training session in the Neutral Buoyancy Laboratory (NBL) near the Johnson Space Center (JSC).

  9. STS-115 Crew training at the Neutral Buoyancy Laboratory (NBL)

    NASA Image and Video Library

    2002-09-06

    JSC2002-E-37424 (6 September 2002) --- Astronaut Joseph R. (Joe) Tanner, STS-115 mission specialist, attired in a training version of the Extravehicular Mobility Unit (EMU) space suit, is about to be submerged in the waters of the Neutral Buoyancy Laboratory (NBL) near the Johnson Space Center (JSC).

  10. Expedition 18 Neutral Buoyancy Laboratory (NBL) Prep Pool Topside

    NASA Image and Video Library

    2008-06-06

    JSC2008-E-045474 (6 June 2008) --- Attired in a training version of his Extravehicular Mobility Unit (EMU) spacesuit, astronaut Edward M. (Mike) Fincke, Expedition 18 commander, awaits the start of a training session in the waters of the Neutral Buoyancy Laboratory (NBL) near NASA's Johnson Space Center.

  11. STS-115 EVA training at the Neutral Buoyancy Laboratory (NBL)

    NASA Image and Video Library

    2002-09-26

    JSC2002-E-39739 (26 September 2002) --- Astronaut Daniel C. Burbank, STS-115 mission specialist, attired in a training version of the Extravehicular Mobility Unit (EMU) space suit, is about to be submerged in the waters of the Neutral Buoyancy Laboratory (NBL) near the Johnson Space Center (JSC).

  12. STS-115 EVA training at the Neutral Buoyancy Laboratory (NBL)

    NASA Image and Video Library

    2002-09-26

    JSC2002-E-39744 (26 Sept. 2002) --- Astronaut Steven G. MacLean, STS-115 mission specialist representing the Canadian Space Agency, waves as he is submerged in the waters of the Neutral Buoyancy Laboratory (NBL) near the Johnson Space Center. MacLean is wearing a training version of the Extravehicular Mobility Unit (EMU) space suit.

  13. STS-115 Crew training at the Neutral Buoyancy Laboratory (NBL)

    NASA Image and Video Library

    2002-09-06

    JSC2002-E-37419 (6 September 2002) --- Astronaut Heidemarie M. Stefanyshyn-Piper, STS-115 mission specialist, attired in a training version of the Extravehicular Mobility Unit (EMU) space suit, is about to begin a training session in the Neutral Buoyancy Laboratory (NBL) near the Johnson Space Center (JSC).

  14. STS-115 EVA training at the Neutral Buoyancy Laboratory (NBL)

    NASA Image and Video Library

    2002-09-26

    JSC2002-E-39737 (26 September 2002) --- Astronaut Daniel C. Burbank, STS-115 mission specialist, attired in a training version of the Extravehicular Mobility Unit (EMU) space suit, is about to begin a training session in the Neutral Buoyancy Laboratory (NBL) near the Johnson Space Center (JSC).

  15. MICROBIAL LABORATORY GUIDANCE MANUAL FOR THE ...

    EPA Pesticide Factsheets

    The Long-Term 2 Enhanced Surface Water Treatment Rule Laboratory Instruction Manual will be a compilation of all information needed by laboratories and field personnel to collect, analyze, and report the microbiological data required under the rule. The manual will provide laboratories with a single source of information that currently is available from various sources including the latest versions of Methods 1622 and 1623, including all approved, equivalent modifications; the procedures for E.coli methods approved for use under the LT2ESWTR; lists of vendor sources; data recording forms; data reporting requirements; information on the Laboratory Quality Assurance Evaluation Program for the Analysis of Cryptosporidium in Water; and sample collection procedures. Although most of this information is available elsewhere, a single, comprehensive compendium containing this information is needed to aid utilities and laboratories performing the sampling and analysis activities required under the LT2 rule. This manual will serve as an instruction manual for laboratories to use when collecting data for Crypto, E. coli and turbidity.

  16. MICROBIAL LABORATORY GUIDANCE MANUAL FOR THE ...

    EPA Pesticide Factsheets

    The Long-Term 2 Enhanced Surface Water Treatment Rule Laboratory Instruction Manual will be a compilation of all information needed by laboratories and field personnel to collect, analyze, and report the microbiological data required under the rule. The manual will provide laboratories with a single source of information that currently is available from various sources including the latest versions of Methods 1622 and 1623, including all approved, equivalent modifications; the procedures for E.coli methods approved for use under the LT2ESWTR; lists of vendor sources; data recording forms; data reporting requirements; information on the Laboratory Quality Assurance Evaluation Program for the Analysis of Cryptosporidium in Water; and sample collection procedures. Although most of this information is available elsewhere, a single, comprehensive compendium containing this information is needed to aid utilities and laboratories performing the sampling and analysis activities required under the LT2 rule. This manual will serve as an instruction manual for laboratories to use when collecting data for Crypto, E. coli and turbidity.

  17. Using Versions of Literary Texts to Improve Comprehension.

    ERIC Educational Resources Information Center

    Samuel, Moses

    1995-01-01

    Discusses the use of the original text of Shakespeare's "Macbeth," a simplified version, and a comic-book version of the play in a college-level English-as-a-Second-Language (ESL) course. The results indicate that multiple versions of a text can help offset the shortcomings of using only the original text or a simplified version. (three…

  18. Environmental laboratory design

    SciTech Connect

    Newill, R.F.

    1996-11-01

    An effective, efficient laboratory building, operating at a reasonable cost within performance parameters set by the owner, determines quality control, employee morale and retention, operating costs, maintenance costs and renovation costs for the next thirty years. For better or worse, a new laboratory is managerial policy cast in stone. This paper, based on the author`s environmental laboratory design experience, offers an understanding of the relationship between costs, flexibility, function and quality in environmental laboratory design and construction. The comments are generally structured around publicly owned laboratories, with notes regarding private laboratories where appropriate.

  19. Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family

    SciTech Connect

    Hoop, R.C.; Schwartz, L.S.; Hoffman, E.P.; Russo, L.S.; Riconda, D.L.

    1994-02-01

    Two male cousins with Duchenne muscular dystrophy were found to have different maternal dystrophin gene haplotypes and different deletion mutations. One propositus showed two noncontiguous deletions-one in the 5{prime}, proximal deletional hotspot region, and the other in the 3{prime}, more distal deletional hotspot region. The second propositus showed only the 5{prime} deletion. Using multiple fluorescent exon dosage and fluorescent multiplex CA repeat linkage analyses, the authors show that the mother of each propositus carries both deletions on the same grandmaternal X chromosome. This paradox is explained by a single recombinational event between the 2 deleted regions of one of the carrier`s dystrophin genes, giving rise to a son with a partially {open_quotes}repaired{close_quotes} gene retaining only the 5{prime} deletion. 20 refs., 4 figs.

  20. Velo-cardio-facial syndrome: Frequency and textent of 22q11 deletions

    SciTech Connect

    Lindsay, E.A.; Goldberg, R.; Jurecic, V.

    1995-07-03

    Velo-cardio-facial (VCFS) or Shprintzen syndrome is associated with deletions in a region of chromosome 22q11.2 also deleted in DiGeorge anomaly and some forms of congenital heart disease. Due to the variability of phenotype, the evaluation of the incidence of deletions has been hampered by uncertainty of diagnosis. In this study, 54 patients were diagnosed with VCFS by a single group of clinicians using homogeneous clinical criteria independent of the deletion status. Cell lines of these patients were established and the deletion status evaluated for three loci within the commonly deleted region at 22q11.2 using fluorescence in situ hybridization (FISH). In 81% of the patients all three loci were hemizygous. In one patient we observed a smaller interstitial deletion than that defined by the three loci. The phenotype of this patient was not different from that observed in patients with larger deletions. 22 refs., 2 figs., 1 tab.

  1. 14 CFR 1206.202 - Deletion of segregable portions of a record.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... that is exempt, the portion that is exempt from disclosure shall be deleted and the balance of the... amount of information deleted shall be indicated on the released portion of the record, unless including...

  2. 14 CFR § 1206.202 - Deletion of segregable portions of a record.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... that is exempt, the portion that is exempt from disclosure shall be deleted and the balance of the... amount of information deleted shall be indicated on the released portion of the record, unless including...

  3. 14 CFR 1206.202 - Deletion of segregable portions of a record.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... that is exempt, the portion that is exempt from disclosure shall be deleted and the balance of the... amount of information deleted shall be indicated on the released portion of the record, unless including...

  4. Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene

    SciTech Connect

    Canning, S.; Dryja, T.P. )

    1989-07-01

    The authors found deletions involving the retinoblastoma gene in 12 of 49 tumors from patients with retinoblastoma or osteosarcoma. After mapping the deletion breakpoints, they found that no two breakpoints coincided. Thus, the data do not support the conclusions of others regarding the existence of a hotspot for deletion breakpoints in this gene. In 4 of the tumors, they sequenced 200 base pairs surrounding each deletion breakpoint. Three deletions had termini within pairs of short, direct repeats ranging in size from 4 to 7 base pairs. These results indicate that the slipped mispairing mechanism may predominate in the generation of deletions at this locus. The review of deletion breakpoints at other genetic loci reveals that the nature of the sequences present at deletion breakpoints (short, direct repeats versus middle repetitive elements) varies according to the genetic locus under study.

  5. Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion.

    PubMed

    Prior, T W; Bartolo, C; Papp, A C; Snyder, P J; Sedra, M S; Burghes, A H; Kissel, J T; Luquette, M H; Tsao, C Y; Mendell, J R

    1997-02-01

    The exon 45 deletion is a common dystrophin gene deletion. Although this is an out-of-frame deletion, which should not allow for protein synthesis, it has been observed in mildly affected patients. We describe a patient with an exon 45 deletion who produced protein, but still had a severe Duchenne muscular dystrophy phenotype. RT-PCR analysis and cDNA sequencing from the muscle biopsy sample revealed that the exon 45 deletion induced exon skipping of exon 44, which resulted in an in-frame deletion and the production of dystrophin. A conformational change in dystrophin induced by the deletion is proposed as being responsible for the severe phenotype in the patient. We feel that the variable clinical phenotype observed in patients with the exon 45 deletion is not due to exon splicing but may be the result of other environmental or genetic factors, or both.

  6. Mining for single nucleotide polymorphisms and insertions / deletions in expressed sequence tag libraries of oil palm.

    PubMed

    Riju, Aykkal; Chandrasekar, Arumugam; Arunachalam, Vadivel

    2007-01-01

    The oil palm is a tropical oil bearing tree. Recently EST-derived SNPs and SSRs are a free by-product of the currently expanding EST (Expressed Sequence Tag) data bases. The development of high-throughput methods for the detection of SNPs (Single Nucleotide Polymorphism) and small indels (insertion / deletion) has led to a revolution in their use as molecular markers. Available (5452) Oil palm EST sequences were mined from dbEST of NCBI. CAP3 program was used to assemble EST sequences into contigs. Candidate SNPs and Indel polymorphisms were detected using the perl script auto_snip version 1.0 which has used 576 ESTs for detecting SNPs and Indel sites. We found 1180 SNP sites and 137 indel polymorphisms with frequency 1.36 SNPs / 100 bp. Among the six tissues from which the EST libraries had been generated, mesocarp had high frequency of 2.91 SNPs and indels per 100 bp whereas the zygotic embryos had lowest frequency of 0.15 per 100 bp. We also used the Shannon index to analyze the proportion of ten possible types of SNP/indels. ESTs from tissues of normal apex showed highest values of Shannon index (0.60) whereas abnormal apex had least value (0.02). The present report deals the use of Shannon index for comparing SNP/ indel frequencies mined from ESTlibraries and also confirm that the frequency of SNP occurrence in oil palm to use them as markers for genetic studies.

  7. A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait.

    PubMed

    Phylipsen, Marion; Traeger-Synodinos, Jan; van der Kraan, Martijn; van Delft, Peter; Bakker, Greet; Geerts, Mariska; Kanavakis, Emmanuel; Stamoulakatou, Alexandra; Karagiorga, Markissia; Giordano, Piero C; Harteveld, Cornelis L

    2012-04-01

    To determine the molecular basis in a Greek child suspected of having HbH disease and β-thalassemia trait.   Standard hematology, Hb electrophoresis, and HPLC. Multiplex ligation-dependent probe amplification (MLPA), direct sequencing, and breakpoint characterization by NimbleGen fine-tiling array analysis. The index patient showed a moderate microcytic hypochromic anemia with normal ZPP and elevated HbA(2) , indicative for β-thalassemia trait. However, the moderate microcytic hypochromic anemia along with the observation of HbH inclusions in occasional red blood cells suggested a coexisting α-thalassemia. Molecular analysis indicated that the propositus inherited the β(+) -thalassemia mutation IVS2-745 (c>g) and a novel α(0) -thalassemia deletion from the mother, and the common non-deletion α-thalassemia allele α(2) (-5nt)α from the father. The α(0) -thalassemia deletion, named - -(BGS) , is approximately 131.6 kb in length. It removes the major regulatory elements along with the functional α-globin genes but leaves the theta-gene intact. The compound interaction of a β-thalassemia defect along with a single functional α-globin gene is quite rare. Although patients with HbH/β-thal and simple HbH disease have comparable levels of Hb, the absence of free β-globin chains and thus detectable non-functional HbH means that in HbH/β-thal, the levels of functional Hb are higher, resulting in a better compensated functional anemia. Rare large deletions as the one described here remain undetected by gap-PCR in routine molecular screening. The introduction of MLPA as a diagnostic screening tool may improve laboratory diagnostics for these defects. The use of NimbleGen fine-tiling arrays may give additional information about the precise location of breakpoints. © 2011 John Wiley & Sons A/S.

  8. "Black holes" and bacterial pathogenicity: a large genomic deletion that enhances the virulence of Shigella spp. and enteroinvasive Escherichia coli.

    PubMed

    Maurelli, A T; Fernández, R E; Bloch, C A; Rode, C K; Fasano, A

    1998-03-31

    Plasmids, bacteriophages, and pathogenicity islands are genomic additions that contribute to the evolution of bacterial pathogens. For example, Shigella spp., the causative agents of bacillary dysentery, differ from the closely related commensal Escherichia coli in the presence of a plasmid in Shigella that encodes virulence functions. However, pathogenic bacteria also may lack properties that are characteristic of nonpathogens. Lysine decarboxylase (LDC) activity is present in approximately 90% of E. coli strains but is uniformly absent in Shigella strains. When the gene for LDC, cadA, was introduced into Shigella flexneri 2a, virulence became attenuated, and enterotoxin activity was inhibited greatly. The enterotoxin inhibitor was identified as cadaverine, a product of the reaction catalyzed by LDC. Comparison of the S. flexneri 2a and laboratory E. coli K-12 genomes in the region of cadA revealed a large deletion in Shigella. Representative strains of Shigella spp. and enteroinvasive E. coli displayed similar deletions of cadA. Our results suggest that, as Shigella spp. evolved from E. coli to become pathogens, they not only acquired virulence genes on a plasmid but also shed genes via deletions. The formation of these "black holes," deletions of genes that are detrimental to a pathogenic lifestyle, provides an evolutionary pathway that enables a pathogen to enhance virulence. Furthermore, the demonstration that cadaverine can inhibit enterotoxin activity may lead to more general models about toxin activity or entry into cells and suggests an avenue for antitoxin therapy. Thus, understanding the role of black holes in pathogen evolution may yield clues to new treatments of infectious diseases.

  9. Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome

    PubMed Central

    Chakraborty, D; Bernal, A J; Schoch, K; Howard, T D; Ip, E H; Hooper, S R; Keshavan, M S; Jirtle, R L; Shashi, V

    2012-01-01

    Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans. It is typified by highly variable symptoms, which might be explained by epigenetic regulation of genes in the interval. Using computational algorithms, our laboratory previously predicted that DiGeorge critical region 6 (DGCR6), which lies within the deletion interval, is imprinted in humans. Expression and epigenetic regulation of this gene have not, however, been examined in 22q11DS subjects. The purpose of this study was to determine if the expression levels of DGCR6 and its duplicate copy DGCR6L in 22q11DS subjects are associated with the parent-of-origin of the deletion and childhood psychopathologies. Our investigation showed no evidence of parent-of-origin-related differences in expression of both DGCR6 and DGCR6L. However, we found that the variability in DGCR6 expression was significantly greater in 22q11DS children than in age and gender-matched control individuals. Children with 22q11DS who had anxiety disorders had significantly lower DGCR6 expression, especially in subjects with the deletion on the maternal chromosome, despite the lack of imprinting. Our findings indicate that epigenetic mechanisms other than imprinting contribute to the dysregulation of these genes and the associated childhood psychopathologies observed in individuals with 22q11DS. Further studies are now needed to test the usefulness of DGCR6 and DGCR6L expression and alterations in the epigenome at these loci in predicting childhood anxiety and associated adult-onset pathologies in 22q11DS subjects. PMID:22832905

  10. ``Black Holes" and Bacterial Pathogenicity: A Large Genomic Deletion that Enhances the Virulence of Shigella spp. and Enteroinvasive Escherichia coli

    NASA Astrophysics Data System (ADS)

    Maurelli, Anthony T.; Fernandez, Reinaldo E.; Bloch, Craig A.; Rode, Christopher K.; Fasano, Alessio

    1998-03-01

    Plasmids, bacteriophages, and pathogenicity islands are genomic additions that contribute to the evolution of bacterial pathogens. For example, Shigella spp., the causative agents of bacillary dysentery, differ from the closely related commensal Escherichia coli in the presence of a plasmid in Shigella that encodes virulence functions. However, pathogenic bacteria also may lack properties that are characteristic of nonpathogens. Lysine decarboxylate (LDC) activity is present in ≈ 90% of E. coli strains but is uniformly absent in Shigella strains. When the gene for LDC, cadA, was introduced into Shigella flexneri 2a, virulence became attenuated, and enterotoxin activity was inhibited greatly. The enterotoxin inhibitor was identified as cadaverine, a product of the reaction catalyzed by LDC. Comparison of the S. flexneri 2a and laboratory E. coli K-12 genomes in the region of cadA revealed a large deletion in Shigella. Representative strains of Shigella spp. and enteroinvasive E. coli displayed similar deletions of cadA. Our results suggest that, as Shigella spp. evolved from E. coli to become pathogens, they not only acquired virulence genes on a plasmid but also shed genes via deletions. The formation of these ``black holes,'' deletions of genes that are detrimental to a pathogenic lifestyle, provides an evolutionary pathway that enables a pathogen to enhance virulence. Furthermore, the demonstration that cadaverine can inhibit enterotoxin activity may lead to more general models about toxin activity or entry into cells and suggests an avenue for antitoxin therapy. Thus, understanding the role of black holes in pathogen evolution may yield clues to new treatments of infectious diseases.

  11. MISR File Naming and Versioning Conventions

    Atmospheric Science Data Center

    2013-06-26

    ... ancillary inputs. At this point in time, most of the static ancillary datasets have stabilized and major changes to them are not ... will not change the output product version number. Static Ancillary Inputs: [AGP, CGM, TASC, CSSC, PP] Changes to these inputs are ...

  12. Methods for Identifying Versioned and Plagiarized Documents.

    ERIC Educational Resources Information Center

    Hoad, Timothy C.; Zobel, Justin

    2003-01-01

    Describes research that was conducted to develop and evaluate techniques for identifying plagiarism, revisions, and different versions of online documents. Highlights include ranking; parsing; similarity measures; identity measures; fingerprinting documents; measuring effectiveness via recall and precision; and experiments on two document…

  13. MISR Level 2 TOA/Cloud Versioning

    Atmospheric Science Data Center

    2017-10-11

    ... Current F05_0011 12/01/2007 Data Product Specification Rev Q  (PDF). The entire mission is being ... Albedos F05_0010 06/01/2007 Data Product Specification Rev P  (PDF). This version marks the beginning ...

  14. Version Control in Project-Based Learning

    ERIC Educational Resources Information Center

    Milentijevic, Ivan; Ciric, Vladimir; Vojinovic, Oliver

    2008-01-01

    This paper deals with the development of a generalized model for version control systems application as a support in a range of project-based learning methods. The model is given as UML sequence diagram and described in detail. The proposed model encompasses a wide range of different project-based learning approaches by assigning a supervisory…

  15. Secondary School Mathematics. Preliminary Version. Sample Chapters.

    ERIC Educational Resources Information Center

    Bell, Max S.; And Others

    This volume contains preliminary versions of five of the chapters prepared by the SMSG curriculum project for use in grades 7 and 8. The first four chapters and the tenth chapter in the sequence are presented. The sample chapters in this volume illustrate a number of aspects of the curriculum project: (1) association of ideas of number and space…

  16. The OBIS Trail Module. Trial Version.

    ERIC Educational Resources Information Center

    Fairwell, Kay, Ed.; And Others

    Designed to allow youngsters aged 10 to 15 to experience the challenges and problems environmental investigators might face making an environmental impact study, the trial version of the Outdoor Biology Instructional Strategies (OBIS) Trail Module focuses on aspects of construction-related environment problems. Four activities are included in the…

  17. Methods for Identifying Versioned and Plagiarized Documents.

    ERIC Educational Resources Information Center

    Hoad, Timothy C.; Zobel, Justin

    2003-01-01

    Describes research that was conducted to develop and evaluate techniques for identifying plagiarism, revisions, and different versions of online documents. Highlights include ranking; parsing; similarity measures; identity measures; fingerprinting documents; measuring effectiveness via recall and precision; and experiments on two document…

  18. Two Versions of "Common" Test Eyed

    ERIC Educational Resources Information Center

    Gewertz, Catherine

    2012-01-01

    An unprecedented assessment project involving half the states is planning a significant shift: Instead of designing one test for all of them, it will offer a choice of a longer and a shorter version. The pivot came in response to some states' resistance to spending more time and money on testing for the common standards. The plan under discussion…

  19. Version Control in Project-Based Learning

    ERIC Educational Resources Information Center

    Milentijevic, Ivan; Ciric, Vladimir; Vojinovic, Oliver

    2008-01-01

    This paper deals with the development of a generalized model for version control systems application as a support in a range of project-based learning methods. The model is given as UML sequence diagram and described in detail. The proposed model encompasses a wide range of different project-based learning approaches by assigning a supervisory…

  20. Interpreting Graphic Versions of Shakespearean Plays

    ERIC Educational Resources Information Center

    Wolfe, Paula; Kleijwegt, Danielle

    2012-01-01

    The emergence of quality multimodal texts such as graphic novels may provide new vistas that allow adolescents access to more complex readings of difficult texts. This is especially true for the large number of graphic versions of Shakespearean text that have recently come on the market. However, it is still unclear as to what students actually…