WorldWideScience

Sample records for complete genetic correction

  1. Complete restoration of multiple dystrophin isoforms in genetically corrected Duchenne muscular dystrophy patient–derived cardiomyocytes

    Directory of Open Access Journals (Sweden)

    Susi Zatti

    2014-01-01

    Full Text Available Duchenne muscular dystrophy (DMD–associated cardiac diseases are emerging as a major cause of morbidity and mortality in DMD patients, and many therapies for treatment of skeletal muscle failed to improve cardiac function. The reprogramming of patients' somatic cells into pluripotent stem cells, combined with technologies for correcting the genetic defect, possesses great potential for the development of new treatments for genetic diseases. In this study, we obtained human cardiomyocytes from DMD patient–derived, induced pluripotent stem cells genetically corrected with a human artificial chromosome carrying the whole dystrophin genomic sequence. Stimulation by cytokines was combined with cell culturing on hydrogel with physiological stiffness, allowing an adhesion-dependent maturation and a proper dystrophin expression. The obtained cardiomyocytes showed remarkable sarcomeric organization of cardiac troponin T and α-actinin, expressed cardiac-specific markers, and displayed electrically induced calcium transients lasting less than 1 second. We demonstrated that the human artificial chromosome carrying the whole dystrophin genomic sequence is stably maintained throughout the cardiac differentiation process and that multiple promoters of the dystrophin gene are properly activated, driving expression of different isoforms. These dystrophic cardiomyocytes can be a valuable source for in vitro modeling of DMD-associated cardiac disease. Furthermore, the derivation of genetically corrected, patient-specific cardiomyocytes represents a step toward the development of innovative cell and gene therapy approaches for DMD.

  2. Pile-up correction by Genetic Algorithm and Artificial Neural Network

    Science.gov (United States)

    Kafaee, M.; Saramad, S.

    2009-08-01

    Pile-up distortion is a common problem for high counting rates radiation spectroscopy in many fields such as industrial, nuclear and medical applications. It is possible to reduce pulse pile-up using hardware-based pile-up rejections. However, this phenomenon may not be eliminated completely by this approach and the spectrum distortion caused by pile-up rejection can be increased as well. In addition, inaccurate correction or rejection of pile-up artifacts in applications such as energy dispersive X-ray (EDX) spectrometers can lead to losses of counts, will give poor quantitative results and even false element identification. Therefore, it is highly desirable to use software-based models to predict and correct any recognized pile-up signals in data acquisition systems. The present paper describes two new intelligent approaches for pile-up correction; the Genetic Algorithm (GA) and Artificial Neural Networks (ANNs). The validation and testing results of these new methods have been compared, which shows excellent agreement with the measured data with 60Co source and NaI detector. The Monte Carlo simulation of these new intelligent algorithms also shows their advantages over hardware-based pulse pile-up rejection methods.

  3. Complete $O(\\alpha)$ QED corrections to polarized Compton scattering

    CERN Document Server

    Denner, Ansgar

    1999-01-01

    The complete QED corrections of O(alpha) to polarized Compton scattering are calculated for finite electron mass and including the real corrections induced by the processes e^- gamma -> e^- gamma gamma and e^- gamma -> e^- e^- e^+. All relevant formulas are listed in a form that is well suited for a direct implementation in computer codes. We present a detailed numerical discussion of the O(alpha)-corrected cross section and the left-right asymmetry in the energy range of present and future Compton polarimeters, which are used to determine the beam polarization of high-energetic e^+- beams. For photons with energies of a few eV and electrons with SLC energies or smaller, the corrections are of the order of a few per mille. In the energy range of future e^+e^- colliders, however, they reach 1-2% and cannot be neglected in a precision polarization measurement.

  4. Complete one-loop electroweak corrections to ZZZ production at the ILC

    International Nuclear Information System (INIS)

    Su Jijuan; Ma Wengan; Zhang Renyou; Wang Shaoming; Guo Lei

    2008-01-01

    We study the complete O(α ew ) electroweak (EW) corrections to the production of three Z 0 bosons in the framework of the standard model (SM) at the ILC. The leading-order and the EW next-to-leading-order corrected cross sections are presented, and their dependence on the colliding energy √(s) and Higgs-boson mass m H is analyzed. We investigate also the LO and one-loop EW corrected distributions of the transverse momentum of the final Z 0 boson, and the invariant mass of the Z 0 Z 0 pair. Our numerical results show that the EW one-loop correction generally suppresses the tree-level cross section, and the relative correction with m H =120 GeV(150 GeV) varies between -15.8%(-13.9%) and -7.5%(-6.2%) when √(s) goes up from 350 GeV to 1 TeV.

  5. EIA completes corrections to drilling estimates series

    International Nuclear Information System (INIS)

    Trapmann, W.; Shambaugh, P.

    1998-01-01

    The Energy Information Administration (EIA) has published monthly and annual estimates of US oil and gas drilling activity since 1978. These data are key information for many industry analysts, serving as a leading indicator of trends in the industry and a barometer of general industry status. They are assessed directly for trends, as well as in combination with other measures to assess the productivity and profitability of upstream industry operations. They are major reference points for federal and state policymakers. EIA does not itself collect drilling activity data. Instead, it relies on an external source for data on oil, bas, and dry well completions. These data are provided to EIA monthly on an as reported basis. During a recent effort to enhance EIA's well completion data system, the detection of unusual patterns in the well completion data as received led to an expanded examination of these data. Substantial discrepancies between the data as received by EIA and correct record counts since 1987 were identified. For total wells by year, the errors ranged up to more than 2,300 wells, 11% of the 1995 total, and the impact of these errors extended backward in time to at least the early 1980s. When the magnitude and extent of the as reported well completion data problem were confirmed, EIA suspended its publication and distribution of updated drilling data. EIA staff proceeded to acquire replacement files with the as reported records and then revise the statistical portion of its drilling data system to reflect the new information. The replacement files unfortunately also included erroneous data based on the improper allocation of wells between exploration and development. EIA has now resolved the two data problems and generated revised time series estimates for well completions and footage drilled. The paper describes the problems in the data, differences between the series, and maintaining future data quality

  6. Complete analytic results for radiative-recoil corrections to ground-state muonium hyperfine splitting

    International Nuclear Information System (INIS)

    Karshenboim, S.G.; Shelyuto, V.A.; Eides, M.E.

    1988-01-01

    Analytic expressions are obtained for radiative corrections to the hyperfine splitting related to the muon line. The corresponding contribution amounts to (Z 2 a) (Za) (m/M) (9/2 ζ(3) - 3π 2 ln 2 + 39/8) in units of the Fermi hyperfine splitting energy. A complete analytic result for all radiative-recoil corrections is also presented

  7. A propensity score approach to correction for bias due to population stratification using genetic and non-genetic factors.

    Science.gov (United States)

    Zhao, Huaqing; Rebbeck, Timothy R; Mitra, Nandita

    2009-12-01

    Confounding due to population stratification (PS) arises when differences in both allele and disease frequencies exist in a population of mixed racial/ethnic subpopulations. Genomic control, structured association, principal components analysis (PCA), and multidimensional scaling (MDS) approaches have been proposed to address this bias using genetic markers. However, confounding due to PS can also be due to non-genetic factors. Propensity scores are widely used to address confounding in observational studies but have not been adapted to deal with PS in genetic association studies. We propose a genomic propensity score (GPS) approach to correct for bias due to PS that considers both genetic and non-genetic factors. We compare the GPS method with PCA and MDS using simulation studies. Our results show that GPS can adequately adjust and consistently correct for bias due to PS. Under no/mild, moderate, and severe PS, GPS yielded estimated with bias close to 0 (mean=-0.0044, standard error=0.0087). Under moderate or severe PS, the GPS method consistently outperforms the PCA method in terms of bias, coverage probability (CP), and type I error. Under moderate PS, the GPS method consistently outperforms the MDS method in terms of CP. PCA maintains relatively high power compared to both MDS and GPS methods under the simulated situations. GPS and MDS are comparable in terms of statistical properties such as bias, type I error, and power. The GPS method provides a novel and robust tool for obtaining less-biased estimates of genetic associations that can consider both genetic and non-genetic factors. 2009 Wiley-Liss, Inc.

  8. Genetic algorithm for chromaticity correction in diffraction limited storage rings

    Directory of Open Access Journals (Sweden)

    M. P. Ehrlichman

    2016-04-01

    Full Text Available A multiobjective genetic algorithm is developed for optimizing nonlinearities in diffraction limited storage rings. This algorithm determines sextupole and octupole strengths for chromaticity correction that deliver optimized dynamic aperture and beam lifetime. The algorithm makes use of dominance constraints to breed desirable properties into the early generations. The momentum aperture is optimized indirectly by constraining the chromatic tune footprint and optimizing the off-energy dynamic aperture. The result is an effective and computationally efficient technique for correcting chromaticity in a storage ring while maintaining optimal dynamic aperture and beam lifetime.

  9. Genetic correction using engineered nucleases for gene therapy applications.

    Science.gov (United States)

    Li, Hongmei Lisa; Nakano, Takao; Hotta, Akitsu

    2014-01-01

    Genetic mutations in humans are associated with congenital disorders and phenotypic traits. Gene therapy holds the promise to cure such genetic disorders, although it has suffered from several technical limitations for decades. Recent progress in gene editing technology using tailor-made nucleases, such as meganucleases (MNs), zinc finger nucleases (ZFNs), TAL effector nucleases (TALENs) and, more recently, CRISPR/Cas9, has significantly broadened our ability to precisely modify target sites in the human genome. In this review, we summarize recent progress in gene correction approaches of the human genome, with a particular emphasis on the clinical applications of gene therapy. © 2013 The Authors Development, Growth & Differentiation © 2013 Japanese Society of Developmental Biologists.

  10. Research on the Phase Aberration Correction with a Deformable Mirror Controlled by a Genetic Algorithm

    International Nuclear Information System (INIS)

    Yang, P; Hu, S J; Chen, S Q; Yang, W; Xu, B; Jiang, W H

    2006-01-01

    In order to improve laser beam quality, a real number encoding genetic algorithm based on adaptive optics technology was presented. This algorithm was applied to control a 19-channel deformable mirror to correct phase aberration in laser beam. It is known that when traditional adaptive optics system is used to correct laser beam wave-front phase aberration, a precondition is to measure the phase aberration information in the laser beam. However, using genetic algorithms, there is no necessary to know the phase aberration information in the laser beam beforehand. The only parameter need to know is the Light intensity behind the pinhole on the focal plane. This parameter was used as the fitness function for the genetic algorithm. Simulation results show that the optimal shape of the 19-channel deformable mirror applied to correct the phase aberration can be ascertained. The peak light intensity was improved by a factor of 21, and the encircled energy strehl ratio was increased to 0.34 from 0.02 as the phase aberration was corrected with this technique

  11. Complete O(α) QED corrections to the process ep→eX in mixed variables

    International Nuclear Information System (INIS)

    Bardin, D.; Joint Inst. of Nuclear Research, Moscow; Christova, P.; Kalinovskaya, L.; Riemann, T.

    1995-04-01

    The complete set of OMIKRON (α) QED corrections with soft photon exponentiation to the process ep→eX in mixed variables (y=y h , Q 2 =Q l 2 ) is calculated in the quark parton model. Compared to earlier attempts, we additionally determine the lepton-quark interference and the quarkonic corrections. The net results are compared to the approximation with only leptonic corrections, which amount to several percent (at large x or y: several dozens of percents). We find that the newly calculated corrections modify this by few percent or less and become negligible at small y. (orig.)

  12. 75 FR 55823 - Notice of Inventory Completion: Denver Museum of Nature & Science, Denver, CO; Correction

    Science.gov (United States)

    2010-09-14

    ... DEPARTMENT OF THE INTERIOR National Park Service Notice of Inventory Completion: Denver Museum of Nature & Science, Denver, CO; Correction AGENCY: National Park Service, Interior. ACTION: Notice; correction. Notice is here given in accordance with the Native American Graves Protection and Repatriation Act (NAGPRA), 25 U.S.C. 3003, of the...

  13. Interleaved segment correction achieves higher improvement factors in using genetic algorithm to optimize light focusing through scattering media

    Science.gov (United States)

    Li, Runze; Peng, Tong; Liang, Yansheng; Yang, Yanlong; Yao, Baoli; Yu, Xianghua; Min, Junwei; Lei, Ming; Yan, Shaohui; Zhang, Chunmin; Ye, Tong

    2017-10-01

    Focusing and imaging through scattering media has been proved possible with high resolution wavefront shaping. A completely scrambled scattering field can be corrected by applying a correction phase mask on a phase only spatial light modulator (SLM) and thereby the focusing quality can be improved. The correction phase is often found by global searching algorithms, among which Genetic Algorithm (GA) stands out for its parallel optimization process and high performance in noisy environment. However, the convergence of GA slows down gradually with the progression of optimization, causing the improvement factor of optimization to reach a plateau eventually. In this report, we propose an interleaved segment correction (ISC) method that can significantly boost the improvement factor with the same number of iterations comparing with the conventional all segment correction method. In the ISC method, all the phase segments are divided into a number of interleaved groups; GA optimization procedures are performed individually and sequentially among each group of segments. The final correction phase mask is formed by applying correction phases of all interleaved groups together on the SLM. The ISC method has been proved significantly useful in practice because of its ability to achieve better improvement factors when noise is present in the system. We have also demonstrated that the imaging quality is improved as better correction phases are found and applied on the SLM. Additionally, the ISC method lowers the demand of dynamic ranges of detection devices. The proposed method holds potential in applications, such as high-resolution imaging in deep tissue.

  14. Comparative Genetic Analyses of Human Rhinovirus C (HRV-C) Complete Genome from Malaysia

    Science.gov (United States)

    Khaw, Yam Sim; Chan, Yoke Fun; Jafar, Faizatul Lela; Othman, Norlijah; Chee, Hui Yee

    2016-01-01

    Human rhinovirus-C (HRV-C) has been implicated in more severe illnesses than HRV-A and HRV-B, however, the limited number of HRV-C complete genomes (complete 5′ and 3′ non-coding region and open reading frame sequences) has hindered the in-depth genetic study of this virus. This study aimed to sequence seven complete HRV-C genomes from Malaysia and compare their genetic characteristics with the 18 published HRV-Cs. Seven Malaysian HRV-C complete genomes were obtained with newly redesigned primers. The seven genomes were classified as HRV-C6, C12, C22, C23, C26, C42, and pat16 based on the VP4/VP2 and VP1 pairwise distance threshold classification. Five of the seven Malaysian isolates, namely, 3430-MY-10/C22, 8713-MY-10/C23, 8097-MY-11/C26, 1570-MY-10/C42, and 7383-MY-10/pat16 are the first newly sequenced complete HRV-C genomes. All seven Malaysian isolates genomes displayed nucleotide similarity of 63–81% among themselves and 63–96% with other HRV-Cs. Malaysian HRV-Cs had similar putative immunogenic sites, putative receptor utilization and potential antiviral sites as other HRV-Cs. The genomic features of Malaysian isolates were similar to those of other HRV-Cs. Negative selections were frequently detected in HRV-Cs complete coding sequences indicating that these sequences were under functional constraint. The present study showed that HRV-Cs from Malaysia have diverse genetic sequences but share conserved genomic features with other HRV-Cs. This genetic information could provide further aid in the understanding of HRV-C infection. PMID:27199901

  15. Genetic Correction and Hepatic Differentiation of Hemophilia B-specific Human Induced Pluripotent Stem Cells.

    Science.gov (United States)

    He, Qiong; Wang, Hui-Hui; Cheng, Tao; Yuan, Wei-Ping; Ma, Yu-Po; Jiang, Yong-Ping; Ren, Zhi-Hua

    2017-09-27

    Objective To genetically correct a disease-causing point mutation in human induced pluripotent stem cells (iPSCs) derived from a hemophilia B patient. Methods First, the disease-causing mutation was detected by sequencing the encoding area of human coagulation factor IX (F IX) gene. Genomic DNA was extracted from the iPSCs, and the primers were designed to amplify the eight exons of F IX. Next, the point mutation in those iPSCs was genetically corrected using CRISPR/Cas9 technology in the presence of a 129-nucleotide homologous repair template that contained two synonymous mutations. Then, top 8 potential off-target sites were subsequently analyzed using Sanger sequencing. Finally, the corrected clones were differentiated into hepatocyte-like cells, and the secretion of F IX was validated by immunocytochemistry and ELISA assay. Results The cell line bore a missense mutation in the 6 th coding exon (c.676 C>T) of F IX gene. Correction of the point mutation was achieved via CRISPR/Cas9 technology in situ with a high efficacy at about 22% (10/45) and no off-target effects detected in the corrected iPSC clones. F IX secretion, which was further visualized by immunocytochemistry and quantified by ELISA in vitro, reached about 6 ng/ml on day 21 of differentiation procedure. Conclusions Mutations in human disease-specific iPSCs could be precisely corrected by CRISPR/Cas9 technology, and corrected cells still maintained hepatic differentiation capability. Our findings might throw a light on iPSC-based personalized therapies in the clinical application, especially for hemophilia B.

  16. Gene therapy for carcinoma of the breast: Therapeutic genetic correction strategies

    International Nuclear Information System (INIS)

    Obermiller, Patrice S; Tait, David L; Holt, Jeffrey T

    2000-01-01

    Gene therapy is a therapeutic approach that is designed to correct specific molecular defects that contribute to the cause or progression of cancer. Genes that are mutated or deleted in cancers include the cancer susceptibility genes p53 and BRCA1. Because mutational inactivation of gene function is specific to tumor cells in these settings, cancer gene correction strategies may provide an opportunity for selective targeting without significant toxicity for normal nontumor cells. Both p53 and BRCA1 appear to inhibit cancer cells that lack mutations in these genes, suggesting that the so-called gene correction strategies may have broader potential than initially believed. Increasing knowledge of cancer genetics has identified these and other genes as potential targets for gene replacement therapy. Initial patient trials of p53 and BRCA1 gene therapy have provided some indications of potential efficacy, but have also identified areas of basic and clinical research that are needed before these approaches may be widely used in patient care

  17. Well Completion Report for Corrective Action Unit 447, Project Shoal Area, Churchill County, Nevada

    International Nuclear Information System (INIS)

    Rick Findlay

    2006-01-01

    This Well Completion Report is being provided as part of the implementation of the Corrective Action Decision Document (CADD)/Corrective Action Plan (CAP) for Corrective Action Unit (CAU) 447 (NNSA/NSO, 2006a). The CADD/CAP is part of an ongoing U.S. Department of Energy (DOE), National Nuclear Security Administration Nevada Site Office (NNSA/NSO) funded project for the investigation of CAU 447 at the Project Shoal Area (PSA). All work performed on this project was conducted in accordance with the ''Federal Facility Agreement and Consent Order'' (FFACO) (1996), and all applicable Nevada Division of Environmental Protection (NDEP) policies and regulations. Investigation activities included the drilling, construction, and development of three monitoring/validation (MV) wells at the PSA. This report summarizes the field activities and data collected during the investigation

  18. Emotional attitudes of young people completing secondary schools towards genetic modification of organisms (GMO) and genetically modified foods (GMF).

    Science.gov (United States)

    Jurkiewicz, Anna; Zagórski, Jerzy; Bujak, Franciszek; Lachowski, Stanisław; Florek-Łuszczki, Magdalena

    2014-01-01

    The objective of the study was recognition of the opinions of adolescents completing secondary schools concerning genetically modified organisms and genetically modified food, especially the respondents' emotional attitude towards scientific achievements in the area of live genetically modified organisms. The study covered a group of 500 school adolescents completing secondary school at the level of maturity examination. The study was conducted by the method of a diagnostic survey using a self-designed questionnaire form. Knowledge concerning the possible health effects of consumption of food containing GMO among adolescents competing secondary schools is on a relatively low level; the adolescents examined 'know rather little' or 'very little know' about this problem. In respondents' opinions the results of reliable studies pertaining to the health effects of consumption of GMO 'rather do not exist'. The respondents are against the cultivation of GM plants and breeding of GM animals on own farm in the future. Secondary school adolescents considered that the production of genetically modified food means primarily the enrichment of biotechnological companies, higher income for food producers, and not the elimination of hunger in the world or elimination of many diseases haunting humans.

  19. Bias correction of daily satellite precipitation data using genetic algorithm

    Science.gov (United States)

    Pratama, A. W.; Buono, A.; Hidayat, R.; Harsa, H.

    2018-05-01

    Climate Hazards Group InfraRed Precipitation with Stations (CHIRPS) was producted by blending Satellite-only Climate Hazards Group InfraRed Precipitation (CHIRP) with Stasion observations data. The blending process was aimed to reduce bias of CHIRP. However, Biases of CHIRPS on statistical moment and quantil values were high during wet season over Java Island. This paper presented a bias correction scheme to adjust statistical moment of CHIRP using observation precipitation data. The scheme combined Genetic Algorithm and Nonlinear Power Transformation, the results was evaluated based on different season and different elevation level. The experiment results revealed that the scheme robustly reduced bias on variance around 100% reduction and leaded to reduction of first, and second quantile biases. However, bias on third quantile only reduced during dry months. Based on different level of elevation, the performance of bias correction process is only significantly different on skewness indicators.

  20. Long-term correction of obesity and diabetes in genetically obese mice by a single intramuscular injection of recombinant adeno-associated virus encoding mouse leptin

    Science.gov (United States)

    Murphy, John E.; Zhou, Shangzhen; Giese, Klaus; Williams, Lewis T.; Escobedo, Jaime A.; Dwarki, Varavani J.

    1997-01-01

    The ob/ob mouse is genetically deficient in leptin and exhibits a phenotype that includes obesity and non-insulin-dependent diabetes melitus. This phenotype closely resembles the morbid obesity seen in humans. In this study, we demonstrate that a single intramuscular injection of a recombinant adeno-associated virus (AAV) vector encoding mouse leptin (rAAV-leptin) in ob/ob mice leads to prevention of obesity and diabetes. The treated animals show normalization of metabolic abnormalities including hyperglycemia, insulin resistance, impaired glucose tolerance, and lethargy. The effects of a single injection have lasted through the 6-month course of the study. At all time points measured the circulating levels of leptin in the serum were similar to age-matched control C57 mice. These results demonstrate that maintenance of normal levels of leptin (2–5 ng/ml) in the circulation can prevent both the onset of obesity and associated non-insulin-dependent diabetes. Thus a single injection of a rAAV vector expressing a therapeutic gene can lead to complete and long-term correction of a genetic disorder. Our study demonstrates the long-term correction of a disease caused by a genetic defect and proves the feasibility of using rAAV-based vectors for the treatment of chronic disorders like obesity. PMID:9391128

  1. Genetically modified organisms (GMO in opinions completing secondary schools in Lublin

    Directory of Open Access Journals (Sweden)

    Lachowski Stanisław

    2016-09-01

    Full Text Available The objective of the conducted analysis is the opinion of adolescents completing secondary schools concerning genetically modified organisms (GMO and determination of the relationship between the level of knowledge concerning GMO, and evaluation of the safety of their use in industry and agriculture.

  2. Evaluation and Validation of Assembling Corrected PacBio Long Reads for Microbial Genome Completion via Hybrid Approaches.

    Science.gov (United States)

    Lin, Hsin-Hung; Liao, Yu-Chieh

    2015-01-01

    Despite the ever-increasing output of next-generation sequencing data along with developing assemblers, dozens to hundreds of gaps still exist in de novo microbial assemblies due to uneven coverage and large genomic repeats. Third-generation single-molecule, real-time (SMRT) sequencing technology avoids amplification artifacts and generates kilobase-long reads with the potential to complete microbial genome assembly. However, due to the low accuracy (~85%) of third-generation sequences, a considerable amount of long reads (>50X) are required for self-correction and for subsequent de novo assembly. Recently-developed hybrid approaches, using next-generation sequencing data and as few as 5X long reads, have been proposed to improve the completeness of microbial assembly. In this study we have evaluated the contemporary hybrid approaches and demonstrated that assembling corrected long reads (by runCA) produced the best assembly compared to long-read scaffolding (e.g., AHA, Cerulean and SSPACE-LongRead) and gap-filling (SPAdes). For generating corrected long reads, we further examined long-read correction tools, such as ECTools, LSC, LoRDEC, PBcR pipeline and proovread. We have demonstrated that three microbial genomes including Escherichia coli K12 MG1655, Meiothermus ruber DSM1279 and Pdeobacter heparinus DSM2366 were successfully hybrid assembled by runCA into near-perfect assemblies using ECTools-corrected long reads. In addition, we developed a tool, Patch, which implements corrected long reads and pre-assembled contigs as inputs, to enhance microbial genome assemblies. With the additional 20X long reads, short reads of S. cerevisiae W303 were hybrid assembled into 115 contigs using the verified strategy, ECTools + runCA. Patch was subsequently applied to upgrade the assembly to a 35-contig draft genome. Our evaluation of the hybrid approaches shows that assembling the ECTools-corrected long reads via runCA generates near complete microbial genomes, suggesting

  3. Well Completion Report for Corrective Action Unit 443 Central Nevada Test Area Nye County, Nevada

    International Nuclear Information System (INIS)

    2009-01-01

    The drilling program described in this report is part of a new corrective action strategy for Corrective Action Unit (CAU) 443 at the Central Nevada Test Area (CNTA). The drilling program included drilling two boreholes, geophysical well logging, construction of two monitoring/validation (MV) wells with piezometers (MV-4 and MV-5), development of monitor wells and piezometers, recompletion of two existing wells (HTH-1 and UC-1-P-1S), removal of pumps from existing wells (MV-1, MV-2, and MV-3), redevelopment of piezometers associated with existing wells (MV-1, MV-2, and MV-3), and installation of submersible pumps. The new corrective action strategy includes initiating a new 5-year proof-of-concept monitoring period to validate the compliance boundary at CNTA (DOE 2007). The new 5-year proof-of-concept monitoring period begins upon completion of the new monitor wells and collection of samples for laboratory analysis. The new strategy is described in the Corrective Action Decision Document/Corrective Action Plan addendum (DOE 2008a) that the Nevada Division of Environmental Protection approved (NDEP 2008)

  4. Well Completion Report for Corrective Action Unit 443 Central Nevada Test Area Nye County, Nevada

    Energy Technology Data Exchange (ETDEWEB)

    None

    2009-12-01

    The drilling program described in this report is part of a new corrective action strategy for Corrective Action Unit (CAU) 443 at the Central Nevada Test Area (CNTA). The drilling program included drilling two boreholes, geophysical well logging, construction of two monitoring/validation (MV) wells with piezometers (MV-4 and MV-5), development of monitor wells and piezometers, recompletion of two existing wells (HTH-1 and UC-1-P-1S), removal of pumps from existing wells (MV-1, MV-2, and MV-3), redevelopment of piezometers associated with existing wells (MV-1, MV-2, and MV-3), and installation of submersible pumps. The new corrective action strategy includes initiating a new 5-year proof-of-concept monitoring period to validate the compliance boundary at CNTA (DOE 2007). The new 5-year proof-of-concept monitoring period begins upon completion of the new monitor wells and collection of samples for laboratory analysis. The new strategy is described in the Corrective Action Decision Document/Corrective Action Plan addendum (DOE 2008a) that the Nevada Division of Environmental Protection approved (NDEP 2008).

  5. Knowledge of adolescents completing secondary schools concerning genetically modified organisms (GMO)

    OpenAIRE

    Florek-Łuszczki Magdalena; Lachowski Stanisław; Chmielewski Jarosław; Jurkiewicz Anna

    2016-01-01

    The objective of the conducted analyses is the evaluation of the level of knowledge concerning the scope of problems related with genetically modified organism (GMO) amongst adolescents completing secondary schools and the determination of the relationship between the level of this knowledge and the selected demographic traits of the adolescents examined.

  6. Emotional attitudes of young people completing secondary schools towards genetic modification of organisms (GMO and genetically modified foods (GMF

    Directory of Open Access Journals (Sweden)

    Anna Jurkiewicz

    2014-03-01

    Full Text Available Objective. The objective of the study was recognition of the opinions of adolescents completing secondary schools concerning genetically modified organisms and genetically modified food, especially the respondents’ emotional attitude towards scientific achievements in the area of live genetically modified organisms. Material and method. The study covered a group of 500 school adolescents completing secondary school at the level of maturity examination. The study was conducted by the method of a diagnostic survey using a self-designed questionnaire form. Results. Knowledge concerning the possible health effects of consumption of food containing GMO among adolescents competing secondary schools is on a relatively low level; the adolescents examined ‘know rather little’ or ‘very little know’ about this problem. In respondents’ opinions the results of reliable studies pertaining to the health effects of consumption of GMO ‘rather do not exist’. The respondents are against the cultivation of GM plants and breeding of GM animals on own farm in the future. Secondary school adolescents considered that the production of genetically modified food means primarily the enrichment of biotechnological companies, higher income for food producers, and not the elimination of hunger in the world or elimination of many diseases haunting humans.

  7. Knowledge of adolescents completing secondary schools concerning genetically modified organisms (GMO

    Directory of Open Access Journals (Sweden)

    Florek-Łuszczki Magdalena

    2016-06-01

    Full Text Available The objective of the conducted analyses is the evaluation of the level of knowledge concerning the scope of problems related with genetically modified organism (GMO amongst adolescents completing secondary schools and the determination of the relationship between the level of this knowledge and the selected demographic traits of the adolescents examined.

  8. GUT scale threshold corrections in a complete supersymmetric SO(10) model: αs(MZ) versus proton lifetime

    International Nuclear Information System (INIS)

    Lucas, V.; Raby, S.

    1996-01-01

    We show that one-loop GUT scale threshold corrections to gauge couplings are a significant constraint on the GUT symmetry-breaking sector of the theory. The one-loop threshold corrections relate the prediction for α s (M Z ) to the proton lifetime. We have calculated these corrections in a new complete SO(10) SUSY GUT. The results are consistent with the low-energy measurement of α s (M Z ). We have also calculated the proton lifetime and branching ratios in this model. We show that proton decay rates provide a powerful test for theories of fermion masses. copyright 1996 The American Physical Society

  9. The multivariate Dirichlet-multinomial distribution and its application in forensic genetics to adjust for subpopulation effects using the θ-correction

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Eriksen, Poul Svante; Morling, Niels

    2015-01-01

    In this paper, we discuss the construction of a multivariate generalisation of the Dirichlet-multinomial distribution. An example from forensic genetics in the statistical analysis of DNA mixtures motivates the study of this multivariate extension. In forensic genetics, adjustment of the match...... probabilities due to remote ancestry in the population is often done using the so-called θ-correction. This correction increases the probability of observing multiple copies of rare alleles in a subpopulation and thereby reduces the weight of the evidence for rare genotypes. A recent publication by Cowell et al....... (2015) showed elegantly how to use Bayesian networks for efficient computations of likelihood ratios in a forensic genetic context. However, their underlying population genetic model assumed independence of alleles, which is not realistic in real populations. We demonstrate how the so-called θ...

  10. Study on fitness functions of genetic algorithm for dynamically correcting nuclide atmospheric diffusion model

    International Nuclear Information System (INIS)

    Ji Zhilong; Ma Yuanwei; Wang Dezhong

    2014-01-01

    Background: In radioactive nuclides atmospheric diffusion models, the empirical dispersion coefficients were deduced under certain experiment conditions, whose difference with nuclear accident conditions is a source of deviation. A better estimation of the radioactive nuclide's actual dispersion process could be done by correcting dispersion coefficients with observation data, and Genetic Algorithm (GA) is an appropriate method for this correction procedure. Purpose: This study is to analyze the fitness functions' influence on the correction procedure and the forecast ability of diffusion model. Methods: GA, coupled with Lagrange dispersion model, was used in a numerical simulation to compare 4 fitness functions' impact on the correction result. Results: In the numerical simulation, the fitness function with observation deviation taken into consideration stands out when significant deviation exists in the observed data. After performing the correction procedure on the Kincaid experiment data, a significant boost was observed in the diffusion model's forecast ability. Conclusion: As the result shows, in order to improve dispersion models' forecast ability using GA, observation data should be given different weight in the fitness function corresponding to their error. (authors)

  11. Completed sequence and corrected annotation of the genome of maize Iranian mosaic virus.

    Science.gov (United States)

    Ghorbani, Abozar; Izadpanah, Keramatollah; Dietzgen, Ralf G

    2018-03-01

    Maize Iranian mosaic virus (MIMV) is a negative-sense single-stranded RNA virus that is classified in the genus Nucleorhabdovirus, family Rhabdoviridae. The MIMV genome contains six open reading frames (ORFs) that encode in 3΄ to 5΄ order the nucleocapsid protein (N), phosphoprotein (P), putative movement protein (P3), matrix protein (M), glycoprotein (G) and RNA-dependent RNA polymerase (L). In this study, we determined the first complete genome sequence of MIMV using Illumina RNA-Seq and 3'/5' RACE. MIMV genome ('Fars' isolate) is 12,426 nucleotides in length. Unexpectedly, the predicted N gene ORF of this isolate and of four other Iranian isolates is 143 nucleotides shorter than that of the MIMV coding-complete reference isolate 'Shiraz 1' (Genbank NC_011542), possibly due to a minor error in the previous sequence. Genetic variability among the N, P, P3 and G ORFs of Iranian MIMV isolates was limited, but highest in the G gene ORF. Phylogenetic analysis of complete nucleorhabdovirus genomes demonstrated a close evolutionary relationship between MIMV, maize mosaic virus and taro vein chlorosis virus.

  12. Bias correction for the least squares estimator of Weibull shape parameter with complete and censored data

    International Nuclear Information System (INIS)

    Zhang, L.F.; Xie, M.; Tang, L.C.

    2006-01-01

    Estimation of the Weibull shape parameter is important in reliability engineering. However, commonly used methods such as the maximum likelihood estimation (MLE) and the least squares estimation (LSE) are known to be biased. Bias correction methods for MLE have been studied in the literature. This paper investigates the methods for bias correction when model parameters are estimated with LSE based on probability plot. Weibull probability plot is very simple and commonly used by practitioners and hence such a study is useful. The bias of the LS shape parameter estimator for multiple censored data is also examined. It is found that the bias can be modeled as the function of the sample size and the censoring level, and is mainly dependent on the latter. A simple bias function is introduced and bias correcting formulas are proposed for both complete and censored data. Simulation results are also presented. The bias correction methods proposed are very easy to use and they can typically reduce the bias of the LSE of the shape parameter to less than half percent

  13. Genetic Correction of Stem Cells in the Treatment of Inherited Diseases and Focus on Xeroderma Pigmentosum

    Directory of Open Access Journals (Sweden)

    Françoise Bernerd

    2013-10-01

    Full Text Available Somatic stem cells ensure tissue renewal along life and healing of injuries. Their safe isolation, genetic manipulation ex vivo and reinfusion in patients suffering from life threatening immune deficiencies (for example, severe combined immunodeficiency (SCID have demonstrated the efficacy of ex vivo gene therapy. Similarly, adult epidermal stem cells have the capacity to renew epidermis, the fully differentiated, protective envelope of our body. Stable skin replacement of severely burned patients have proven life saving. Xeroderma pigmentosum (XP is a devastating disease due to severe defects in the repair of mutagenic DNA lesions introduced upon exposure to solar radiations. Most patients die from the consequences of budding hundreds of skin cancers in the absence of photoprotection. We have developed a safe procedure of genetic correction of epidermal stem cells isolated from XP patients. Preclinical and safety assessments indicate successful correction of XP epidermal stem cells in the long term and their capacity to regenerate a normal skin with full capacities of DNA repair.

  14. Genetic Correction of Stem Cells in the Treatment of Inherited Diseases and Focus on Xeroderma Pigmentosum

    Science.gov (United States)

    Rouanet, Sophie; Warrick, Emilie; Gache, Yannick; Scarzello, Sabine; Avril, Marie-Françoise; Bernerd, Françoise; Magnaldo, Thierry

    2013-01-01

    Somatic stem cells ensure tissue renewal along life and healing of injuries. Their safe isolation, genetic manipulation ex vivo and reinfusion in patients suffering from life threatening immune deficiencies (for example, severe combined immunodeficiency (SCID)) have demonstrated the efficacy of ex vivo gene therapy. Similarly, adult epidermal stem cells have the capacity to renew epidermis, the fully differentiated, protective envelope of our body. Stable skin replacement of severely burned patients have proven life saving. Xeroderma pigmentosum (XP) is a devastating disease due to severe defects in the repair of mutagenic DNA lesions introduced upon exposure to solar radiations. Most patients die from the consequences of budding hundreds of skin cancers in the absence of photoprotection. We have developed a safe procedure of genetic correction of epidermal stem cells isolated from XP patients. Preclinical and safety assessments indicate successful correction of XP epidermal stem cells in the long term and their capacity to regenerate a normal skin with full capacities of DNA repair. PMID:24113582

  15. 77 FR 42510 - Notice of Inventory Completion: New York University College of Dentistry, New York, NY; Correction

    Science.gov (United States)

    2012-07-19

    ... Inventory Completion: New York University College of Dentistry, New York, NY; Correction AGENCY: National... of human remains under the control of the New York University College of Dentistry, New York, NY. The... Dentistry professional staff in consultation with representatives of the Delaware Nation of Oklahoma...

  16. Well Completion Report for Corrective Action Unit 447, Project Shoal Area, Churchill County, Nevada, Rev. No.: 0

    Energy Technology Data Exchange (ETDEWEB)

    Rick Findlay

    2006-09-01

    This Well Completion Report is being provided as part of the implementation of the Corrective Action Decision Document (CADD)/Corrective Action Plan (CAP) for Corrective Action Unit (CAU) 447 (NNSA/NSO, 2006a). The CADD/CAP is part of an ongoing U.S. Department of Energy (DOE), National Nuclear Security Administration Nevada Site Office (NNSA/NSO) funded project for the investigation of CAU 447 at the Project Shoal Area (PSA). All work performed on this project was conducted in accordance with the ''Federal Facility Agreement and Consent Order'' (FFACO) (1996), and all applicable Nevada Division of Environmental Protection (NDEP) policies and regulations. Investigation activities included the drilling, construction, and development of three monitoring/validation (MV) wells at the PSA. This report summarizes the field activities and data collected during the investigation.

  17. Reversible immortalisation enables genetic correction of human muscle progenitors and engineering of next-generation human artificial chromosomes for Duchenne muscular dystrophy.

    Science.gov (United States)

    Benedetti, Sara; Uno, Narumi; Hoshiya, Hidetoshi; Ragazzi, Martina; Ferrari, Giulia; Kazuki, Yasuhiro; Moyle, Louise Anne; Tonlorenzi, Rossana; Lombardo, Angelo; Chaouch, Soraya; Mouly, Vincent; Moore, Marc; Popplewell, Linda; Kazuki, Kanako; Katoh, Motonobu; Naldini, Luigi; Dickson, George; Messina, Graziella; Oshimura, Mitsuo; Cossu, Giulio; Tedesco, Francesco Saverio

    2018-02-01

    Transferring large or multiple genes into primary human stem/progenitor cells is challenged by restrictions in vector capacity, and this hurdle limits the success of gene therapy. A paradigm is Duchenne muscular dystrophy (DMD), an incurable disorder caused by mutations in the largest human gene: dystrophin. The combination of large-capacity vectors, such as human artificial chromosomes (HACs), with stem/progenitor cells may overcome this limitation. We previously reported amelioration of the dystrophic phenotype in mice transplanted with murine muscle progenitors containing a HAC with the entire dystrophin locus (DYS-HAC). However, translation of this strategy to human muscle progenitors requires extension of their proliferative potential to withstand clonal cell expansion after HAC transfer. Here, we show that reversible cell immortalisation mediated by lentivirally delivered excisable hTERT and Bmi1 transgenes extended cell proliferation, enabling transfer of a novel DYS-HAC into DMD satellite cell-derived myoblasts and perivascular cell-derived mesoangioblasts. Genetically corrected cells maintained a stable karyotype, did not undergo tumorigenic transformation and retained their migration ability. Cells remained myogenic in vitro (spontaneously or upon MyoD induction) and engrafted murine skeletal muscle upon transplantation. Finally, we combined the aforementioned functions into a next-generation HAC capable of delivering reversible immortalisation, complete genetic correction, additional dystrophin expression, inducible differentiation and controllable cell death. This work establishes a novel platform for complex gene transfer into clinically relevant human muscle progenitors for DMD gene therapy. © 2017 The Authors. Published under the terms of the CC BY 4.0 license.

  18. Construction and characterisation of a complete reverse genetics system of dengue virus type 3

    Directory of Open Access Journals (Sweden)

    Jefferson Jose da Silva Santos

    2013-12-01

    Full Text Available Dengue virulence and fitness are important factors that determine disease outcome. However, dengue virus (DENV molecular biology and pathogenesis are not completely elucidated. New insights on those mechanisms have been facilitated by the development of reverse genetic systems in the past decades. Unfortunately, instability of flavivirus genomes cloned in Escherichia coli has been a major problem in these systems. Here, we describe the development of a complete reverse genetics system, based on the construction of an infectious clone and replicon for a low passage DENV-3 genotype III of a clinical isolate. Both constructs were assembled into a newly designed yeast- E. coli shuttle vector by homologous recombination technique and propagated in yeast to prevent any possible genome instability in E. coli . RNA transcripts derived from the infectious clone are infectious upon transfection into BHK-21 cells even after repeated passages of the plasmid in yeast. Transcript-derived DENV-3 exhibited growth kinetics, focus formation size comparable to original DENV-3 in mosquito C6/36 cell culture. In vitro characterisation of DENV-3 replicon confirmed its identity and ability to replicate transiently in BHK-21 cells. The reverse genetics system reported here is a valuable tool that will facilitate further molecular studies in DENV replication, virus attenuation and pathogenesis.

  19. Completion Report for Well ER-3-3 Corrective Action Unit 97: Yucca Flat/Climax Mine, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Wurtz, Jeffrey [Navarro, Las Vegas, NV (United States); Rehfeldt, Ken [Navarro, Las Vegas, NV (United States)

    2017-04-01

    Well ER-3-3 was drilled for the U.S. Department of Energy, Nevada National Security Administration Nevada Field Office in support of the Underground Test Area (UGTA) Activity. The well was drilled and completed from February 21 to March 15, 2016, as part of the Corrective Action Investigation Plan (CAIP) for Yucca Flat/Climax Mine Corrective Action Unit (CAU) 97. The primary purpose of the well was to collect hydrogeologic data to assist in validating concepts of the flow system within the Yucca Flat/Climax Mine CAU, and to test for potential radionuclides in groundwater from the WAGTAIL (U3an) underground test.

  20. One bacterial cell, one complete genome.

    Directory of Open Access Journals (Sweden)

    Tanja Woyke

    2010-04-01

    Full Text Available While the bulk of the finished microbial genomes sequenced to date are derived from cultured bacterial and archaeal representatives, the vast majority of microorganisms elude current culturing attempts, severely limiting the ability to recover complete or even partial genomes from these environmental species. Single cell genomics is a novel culture-independent approach, which enables access to the genetic material of an individual cell. No single cell genome has to our knowledge been closed and finished to date. Here we report the completed genome from an uncultured single cell of Candidatus Sulcia muelleri DMIN. Digital PCR on single symbiont cells isolated from the bacteriome of the green sharpshooter Draeculacephala minerva bacteriome allowed us to assess that this bacteria is polyploid with genome copies ranging from approximately 200-900 per cell, making it a most suitable target for single cell finishing efforts. For single cell shotgun sequencing, an individual Sulcia cell was isolated and whole genome amplified by multiple displacement amplification (MDA. Sanger-based finishing methods allowed us to close the genome. To verify the correctness of our single cell genome and exclude MDA-derived artifacts, we independently shotgun sequenced and assembled the Sulcia genome from pooled bacteriomes using a metagenomic approach, yielding a nearly identical genome. Four variations we detected appear to be genuine biological differences between the two samples. Comparison of the single cell genome with bacteriome metagenomic sequence data detected two single nucleotide polymorphisms (SNPs, indicating extremely low genetic diversity within a Sulcia population. This study demonstrates the power of single cell genomics to generate a complete, high quality, non-composite reference genome within an environmental sample, which can be used for population genetic analyzes.

  1. One Bacterial Cell, One Complete Genome

    Energy Technology Data Exchange (ETDEWEB)

    Woyke, Tanja; Tighe, Damon; Mavrommatis, Konstantinos; Clum, Alicia; Copeland, Alex; Schackwitz, Wendy; Lapidus, Alla; Wu, Dongying; McCutcheon, John P.; McDonald, Bradon R.; Moran, Nancy A.; Bristow, James; Cheng, Jan-Fang

    2010-04-26

    While the bulk of the finished microbial genomes sequenced to date are derived from cultured bacterial and archaeal representatives, the vast majority of microorganisms elude current culturing attempts, severely limiting the ability to recover complete or even partial genomes from these environmental species. Single cell genomics is a novel culture-independent approach, which enables access to the genetic material of an individual cell. No single cell genome has to our knowledge been closed and finished to date. Here we report the completed genome from an uncultured single cell of Candidatus Sulcia muelleri DMIN. Digital PCR on single symbiont cells isolated from the bacteriome of the green sharpshooter Draeculacephala minerva bacteriome allowed us to assess that this bacteria is polyploid with genome copies ranging from approximately 200?900 per cell, making it a most suitable target for single cell finishing efforts. For single cell shotgun sequencing, an individual Sulcia cell was isolated and whole genome amplified by multiple displacement amplification (MDA). Sanger-based finishing methods allowed us to close the genome. To verify the correctness of our single cell genome and exclude MDA-derived artifacts, we independently shotgun sequenced and assembled the Sulcia genome from pooled bacteriomes using a metagenomic approach, yielding a nearly identical genome. Four variations we detected appear to be genuine biological differences between the two samples. Comparison of the single cell genome with bacteriome metagenomic sequence data detected two single nucleotide polymorphisms (SNPs), indicating extremely low genetic diversity within a Sulcia population. This study demonstrates the power of single cell genomics to generate a complete, high quality, non-composite reference genome within an environmental sample, which can be used for population genetic analyzes.

  2. One-step genetic correction of hemoglobin E/beta-thalassemia patient-derived iPSCs by the CRISPR/Cas9 system.

    Science.gov (United States)

    Wattanapanitch, Methichit; Damkham, Nattaya; Potirat, Ponthip; Trakarnsanga, Kongtana; Janan, Montira; U-Pratya, Yaowalak; Kheolamai, Pakpoom; Klincumhom, Nuttha; Issaragrisil, Surapol

    2018-02-26

    Thalassemia is the most common genetic disease worldwide; those with severe disease require lifelong blood transfusion and iron chelation therapy. The definitive cure for thalassemia is allogeneic hematopoietic stem cell transplantation, which is limited due to lack of HLA-matched donors and the risk of post-transplant complications. Induced pluripotent stem cell (iPSC) technology offers prospects for autologous cell-based therapy which could avoid the immunological problems. We now report genetic correction of the beta hemoglobin (HBB) gene in iPSCs derived from a patient with a double heterozygote for hemoglobin E and β-thalassemia (HbE/β-thalassemia), the most common thalassemia syndrome in Thailand and Southeast Asia. We used the CRISPR/Cas9 system to target the hemoglobin E mutation from one allele of the HBB gene by homology-directed repair with a single-stranded DNA oligonucleotide template. DNA sequences of the corrected iPSCs were validated by Sanger sequencing. The corrected clones were differentiated into hematopoietic progenitor and erythroid cells to confirm their multilineage differentiation potential and hemoglobin expression. The hemoglobin E mutation of HbE/β-thalassemia iPSCs was seamlessly corrected by the CRISPR/Cas9 system. The corrected clones were differentiated into hematopoietic progenitor cells under feeder-free and OP9 coculture systems. These progenitor cells were further expanded in erythroid liquid culture system and developed into erythroid cells that expressed mature HBB gene and HBB protein. Our study provides a strategy to correct hemoglobin E mutation in one step and these corrected iPSCs can be differentiated into hematopoietic stem cells to be used for autologous transplantation in patients with HbE/β-thalassemia in the future.

  3. Complete genome of a European hepatitis C virus subtype 1g isolate: phylogenetic and genetic analyses.

    Science.gov (United States)

    Bracho, Maria A; Saludes, Verónica; Martró, Elisa; Bargalló, Ana; González-Candelas, Fernando; Ausina, Vicent

    2008-06-05

    Hepatitis C virus isolates have been classified into six main genotypes and a variable number of subtypes within each genotype, mainly based on phylogenetic analysis. Analyses of the genetic relationship among genotypes and subtypes are more reliable when complete genome sequences (or at least the full coding region) are used; however, so far 31 of 80 confirmed or proposed subtypes have at least one complete genome available. Of these, 20 correspond to confirmed subtypes of epidemic interest. We present and analyse the first complete genome sequence of a HCV subtype 1g isolate. Phylogenetic and genetic distance analyses reveal that HCV-1g is the most divergent subtype among the HCV-1 confirmed subtypes. Potential genomic recombination events between genotypes or subtype 1 genomes were ruled out. We demonstrate phylogenetic congruence of previously deposited partial sequences of HCV-1g with respect to our sequence. In light of this, we propose changing the current status of its subtype-specific designation from provisional to confirmed.

  4. Effects of correcting missing daily feed intake values on the genetic parameters and estimated breeding values for feeding traits in pigs.

    Science.gov (United States)

    Ito, Tetsuya; Fukawa, Kazuo; Kamikawa, Mai; Nikaidou, Satoshi; Taniguchi, Masaaki; Arakawa, Aisaku; Tanaka, Genki; Mikawa, Satoshi; Furukawa, Tsutomu; Hirose, Kensuke

    2018-01-01

    Daily feed intake (DFI) is an important consideration for improving feed efficiency, but measurements using electronic feeder systems contain many missing and incorrect values. Therefore, we evaluated three methods for correcting missing DFI data (quadratic, orthogonal polynomial, and locally weighted (Loess) regression equations) and assessed the effects of these missing values on the genetic parameters and the estimated breeding values (EBV) for feeding traits. DFI records were obtained from 1622 Duroc pigs, comprising 902 individuals without missing DFI and 720 individuals with missing DFI. The Loess equation was the most suitable method for correcting the missing DFI values in 5-50% randomly deleted datasets among the three equations. Both variance components and heritability for the average DFI (ADFI) did not change because of the missing DFI proportion and Loess correction. In terms of rank correlation and information criteria, Loess correction improved the accuracy of EBV for ADFI compared to randomly deleted cases. These findings indicate that the Loess equation is useful for correcting missing DFI values for individual pigs and that the correction of missing DFI values could be effective for the estimation of breeding values and genetic improvement using EBV for feeding traits. © 2017 The Authors. Animal Science Journal published by John Wiley & Sons Australia, Ltd on behalf of Japanese Society of Animal Science.

  5. Complete genome of a European hepatitis C virus subtype 1g isolate: phylogenetic and genetic analyses

    Directory of Open Access Journals (Sweden)

    Bargalló Ana

    2008-06-01

    Full Text Available Abstract Background Hepatitis C virus isolates have been classified into six main genotypes and a variable number of subtypes within each genotype, mainly based on phylogenetic analysis. Analyses of the genetic relationship among genotypes and subtypes are more reliable when complete genome sequences (or at least the full coding region are used; however, so far 31 of 80 confirmed or proposed subtypes have at least one complete genome available. Of these, 20 correspond to confirmed subtypes of epidemic interest. Results We present and analyse the first complete genome sequence of a HCV subtype 1g isolate. Phylogenetic and genetic distance analyses reveal that HCV-1g is the most divergent subtype among the HCV-1 confirmed subtypes. Potential genomic recombination events between genotypes or subtype 1 genomes were ruled out. We demonstrate phylogenetic congruence of previously deposited partial sequences of HCV-1g with respect to our sequence. Conclusion In light of this, we propose changing the current status of its subtype-specific designation from provisional to confirmed.

  6. 3D Aware Correction and Completion of Depth Maps in Piecewise Planar Scenes

    KAUST Repository

    Thabet, Ali Kassem

    2015-04-16

    RGB-D sensors are popular in the computer vision community, especially for problems of scene understanding, semantic scene labeling, and segmentation. However, most of these methods depend on reliable input depth measurements, while discarding unreliable ones. This paper studies how reliable depth values can be used to correct the unreliable ones, and how to complete (or extend) the available depth data beyond the raw measurements of the sensor (i.e. infer depth at pixels with unknown depth values), given a prior model on the 3D scene. We consider piecewise planar environments in this paper, since many indoor scenes with man-made objects can be modeled as such. We propose a framework that uses the RGB-D sensor’s noise profile to adaptively and robustly fit plane segments (e.g. floor and ceiling) and iteratively complete the depth map, when possible. Depth completion is formulated as a discrete labeling problem (MRF) with hard constraints and solved efficiently using graph cuts. To regularize this problem, we exploit 3D and appearance cues that encourage pixels to take on depth values that will be compatible in 3D to the piecewise planar assumption. Extensive experiments, on a new large-scale and challenging dataset, show that our approach results in more accurate depth maps (with 20 % more depth values) than those recorded by the RGB-D sensor. Additional experiments on the NYUv2 dataset show that our method generates more 3D aware depth. These generated depth maps can also be used to improve the performance of a state-of-the-art RGB-D SLAM method.

  7. Genetic characterization of the complete genome of a mutant canine parvovirus isolated in China.

    Science.gov (United States)

    Li, Chuanfeng; Tang, Jingyu; Chen, Zongyan; Li, Qi; Huang, Zhenhua; Wang, Quan; Meng, Chunchun; Wang, Yong; Liu, Guangqing

    2018-02-01

    A field canine parvovirus (CPV) strain, CPV-SH14, was previously isolated from an outbreak of severe gastroenteritis in Shanghai in 2014. The complete genome of CPV-SH14 was determined by using PCR with modified primers. When compared to other CPV-2 strains, several insertions, deletions, and point mutations were identified in the 5' and 3' UTR, with key amino acid (aa) mutations (K19R, E572K in NS1 and F267Y, Y324I and T440A in VP2) also being observed in the coding regions of CPV-SH14. These results indicated that significant and unique genetic variations have occurred at key sites or residues in the genome of CPV-SH14, suggesting the presence of a novel genetic variant of new CPV-2a. Phylogenetic analysis of the VP2 gene revealed that CPV-SH14 may have the potential to spread worldwide. In conclusion, CPV-SH14 may be a novel genetic variant of new CPV-2a, potentially with a selective advantage over other strains.

  8. Partial versus complete fundoplication for the correction of pediatric GERD: a systematic review and meta-analysis.

    Directory of Open Access Journals (Sweden)

    Peter Glen

    Full Text Available There is no consensus as to what extent of "wrap" is required in a fundoplication for correction of gastroesophageal reflux disease (GERD.To evaluate if a complete (360 degree or partial fundoplication gives better control of GERD.A systematic search of MEDLINE and Scopus identified interventional and observational studies of fundoplication in children. Screening identified those comparing techniques. The primary outcome was recurrence of GERD following surgery. Dysphagia and complications were secondary outcomes of interest. Meta-analysis was performed when appropriate. Study quality was assessed using the Cochrane Risk of Bias Tool.2289 abstracts were screened, yielding 2 randomized controlled trials (RCTs and 12 retrospective cohort studies. The RCTs were pooled. There was no difference in surgical success between partial and complete fundoplication, OR 1.33 [0.67,2.66]. In the 12 cohort studies, 3 (25% used an objective assessment of the surgery, one of which showed improved outcomes with complete fundoplication. Twenty-five different complications were reported; common were dysphagia and gas-bloat syndrome. Overall study quality was poor.The comparison of partial fundoplication with complete fundoplication warrants further study. The evidence does not demonstrate superiority of one technique. The lack of high quality RCTs and the methodological heterogeneity of observational studies limits a powerful meta-analysis.

  9. The complete NLO corrections to dijet hadroproduction

    Science.gov (United States)

    Frederix, R.; Frixione, S.; Hirschi, V.; Pagani, D.; Shao, H.-S.; Zaro, M.

    2017-04-01

    We study the production of jets in hadronic collisions, by computing all contributions proportional to α S n α m , with n + m = 2 and n + m = 3. These correspond to leading and next-to-leading order results, respectively, for single-inclusive and dijet observables in a perturbative expansion that includes both QCD and electroweak effects. We discuss issues relevant to the definition of hadronic jets in the context of electroweak corrections, and present sample phenomenological predictions for the 13-TeV LHC. We find that both the leading and next-to-leading order contributions largely respect the relative hierarchy established by the respective coupling-constant combinations.

  10. The complete NLO corrections to dijet hadroproduction

    Energy Technology Data Exchange (ETDEWEB)

    Frederix, R. [Physik Department T31, Technische Universität München,James-Franck-Str. 1, D-85748 Garching (Germany); Frixione, S. [INFN - Sezione di Genova,Via Dodecaneso 33, I-16146, Genoa (Italy); Hirschi, V. [SLAC, National Accelerator Laboratory,2575 Sand Hill Road, Menlo Park, CA 94025-7090 (United States); Pagani, D. [Physik Department T31, Technische Universität München,James-Franck-Str. 1, D-85748 Garching (Germany); Centre for Cosmology, Particle Physics and Phenomenology (CP3),Université Catholique de Louvain, B-1348 Louvain-la-Neuve (Belgium); Shao, H.-S. [TH Department, CERN, CH-1211 Geneva 23 (Switzerland); Zaro, M. [Sorbonne Universités, UPMC University Paris 06,UMR 7589, LPTHE, F-75005, Paris (France); CNRS,UMR 7589, LPTHE, F-75005, Paris (France)

    2017-04-12

    We study the production of jets in hadronic collisions, by computing all contributions proportional to α{sub S}{sup n}α{sup m}, with n+m=2 and n+m=3. These correspond to leading and next-to-leading order results, respectively, for single-inclusive and dijet observables in a perturbative expansion that includes both QCD and electroweak effects. We discuss issues relevant to the definition of hadronic jets in the context of electroweak corrections, and present sample phenomenological predictions for the 13-TeV LHC. We find that both the leading and next-to-leading order contributions largely respect the relative hierarchy established by the respective coupling-constant combinations.

  11. Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice

    Science.gov (United States)

    Renault, Nisa K E; Pritchett, Sonja M; Howell, Robin E; Greer, Wenda L; Sapienza, Carmen; Ørstavik, Karen Helene; Hamilton, David C

    2013-01-01

    In eutherian mammals, one X-chromosome in every XX somatic cell is transcriptionally silenced through the process of X-chromosome inactivation (XCI). Females are thus functional mosaics, where some cells express genes from the paternal X, and the others from the maternal X. The relative abundance of the two cell populations (X-inactivation pattern, XIP) can have significant medical implications for some females. In mice, the ‘choice' of which X to inactivate, maternal or paternal, in each cell of the early embryo is genetically influenced. In humans, the timing of XCI choice and whether choice occurs completely randomly or under a genetic influence is debated. Here, we explore these questions by analysing the distribution of XIPs in large populations of normal females. Models were generated to predict XIP distributions resulting from completely random or genetically influenced choice. Each model describes the discrete primary distribution at the onset of XCI, and the continuous secondary distribution accounting for changes to the XIP as a result of development and ageing. Statistical methods are used to compare models with empirical data from Danish and Utah populations. A rigorous data treatment strategy maximises information content and allows for unbiased use of unphased XIP data. The Anderson–Darling goodness-of-fit statistics and likelihood ratio tests indicate that a model of genetically influenced XCI choice better fits the empirical data than models of completely random choice. PMID:23652377

  12. Complete genetic characterization of a Brazilian dengue virus type 3 strain isolated from a fatal outcome

    Directory of Open Access Journals (Sweden)

    Marize Pereira Miagostovich

    2006-05-01

    Full Text Available We have determined the complete nucleotide and the deduced amino acid sequences of Brazilian dengue virus type 3 (DENV-3 from a dengue case with fatal outcome, which occurred during an epidemic in the state of Rio de Janeiro, Brazil, in 2002. This constitutes the first complete genetic characterization of a Brazilian DENV-3 strain since its introduction into the country in 2001. DENV-3 was responsible for the most severe dengue epidemic in the state, based on the highest number of reported cases and on the severity of clinical manifestations and deaths reported.

  13. Robust method for TALEN-edited correction of pF508del in patient-specific induced pluripotent stem cells.

    Science.gov (United States)

    Camarasa, María Vicenta; Gálvez, Víctor Miguel

    2016-02-09

    Cystic fibrosis is one of the most frequent inherited rare diseases, caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. Apart from symptomatic treatments, therapeutic protocols for curing the disease have not yet been established. The regeneration of genetically corrected, disease-free epithelia in cystic fibrosis patients is envisioned by designing a stem cell/genetic therapy in which patient-derived pluripotent stem cells are genetically corrected, from which target tissues are derived. In this framework, we present an efficient method for seamless correction of pF508del mutation in patient-specific induced pluripotent stem cells by gene edited homologous recombination. Gene edition has been performed by transcription activator-like effector nucleases and a homologous recombination donor vector which contains a PiggyBac transposon-based double selectable marker cassette.This new method has been designed to partially avoid xenobiotics from the culture system, improve cell culture efficiency and genome stability by using a robust culture system method, and optimize timings. Overall, once the pluripotent cells have been amplified for the first nucleofection, the procedure can be completed in 69 days, and can be easily adapted to edit and change any gene of interest.

  14. Genetic characterization of complete open reading frame of glycoprotein C gene of bovine herpesvirus 1

    Directory of Open Access Journals (Sweden)

    Saurabh Majumder

    2013-10-01

    Full Text Available Aim: To characterize one of the major glycoprotein genes viz., glycoprotein C (gC; UL44, unique long region 44 of bovineherpesvirus 1(BoHV1 of Indian origin at genetic and phylogenetic level.Materials and Methods: A bovine herpesvirus 1 isolate viz., (BoHV1/IBR 216 II/ 1976/ India maintained at Division ofVirology, IVRI, Mukteswar was used for the current study. The DNA was extracted using commercial kit and the completeORF of gC gene was amplified, cloned, and sequenced by conventional Sanger sequencing method. The sequence wasgenetically and phylogenetically analysed using various bioinformatic tools. The sequence was submitted in the Genbankwith accession number Kc756965.Results: The complete ORF of gC gene was amplified and sequenced. It showed 100% sequence homology with referencecooper strain of BoHV1 and divergence varied from 0% to 2.7% with other isolates of BoHV1. The isolate under study haddivergence of 9.2%, 13%, 26.6%, and 9.2% with BoHV5 (Bovine herpesvirus 5, CvHV1 (Cervid herpesvirus 1, CpHV1(Caprine herpesvirus 1, and BuHV1 (Bubaline herpesvirus 1, respectively.Conclusion: This is the first genetic characterization of complete open reading frame (ORF of glycoprotein C gene (UL44 ofIndian isolate of BoHV1. The gC gene of BoHV1 is highly conserved among all BoHV1 isolates and it can be used as a targetfor designing diagnostic primers for the specific detection of BoHV1.

  15. Clinical and genetic characterization of six cases with complete ...

    Indian Academy of Sciences (India)

    JING HE

    2017-08-31

    Aug 31, 2017 ... The molecular study of the AR gene facilitated the understanding of the mechanism of CAIS and provided the genetic ... recessive genetic disease, which is characterized by par- .... the interaction of AR protein and androgenic hormone. .... in a brazilian cohort: Five novel mutations in the androgen receptor ...

  16. Off-Angle Iris Correction Methods

    Energy Technology Data Exchange (ETDEWEB)

    Santos-Villalobos, Hector J [ORNL; Thompson, Joseph T [ORNL; Karakaya, Mahmut [ORNL; Boehnen, Chris Bensing [ORNL

    2016-01-01

    In many real world iris recognition systems obtaining consistent frontal images is problematic do to inexperienced or uncooperative users, untrained operators, or distracting environments. As a result many collected images are unusable by modern iris matchers. In this chapter we present four methods for correcting off-angle iris images to appear frontal which makes them compatible with existing iris matchers. The methods include an affine correction, a retraced model of the human eye, measured displacements, and a genetic algorithm optimized correction. The affine correction represents a simple way to create an iris image that appears frontal but it does not account for refractive distortions of the cornea. The other method account for refraction. The retraced model simulates the optical properties of the cornea. The other two methods are data driven. The first uses optical flow to measure the displacements of the iris texture when compared to frontal images of the same subject. The second uses a genetic algorithm to learn a mapping that optimizes the Hamming Distance scores between off-angle and frontal images. In this paper we hypothesize that the biological model presented in our earlier work does not adequately account for all variations in eye anatomy and therefore the two data-driven approaches should yield better performance. Results are presented using the commercial VeriEye matcher that show that the genetic algorithm method clearly improves over prior work and makes iris recognition possible up to 50 degrees off-angle.

  17. Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells.

    Science.gov (United States)

    Tang, Zi-Hua; Chen, Jia-Rong; Zheng, Jing; Shi, Hao-Song; Ding, Jie; Qian, Xiao-Dan; Zhang, Cui; Chen, Jian-Ling; Wang, Cui-Cui; Li, Liang; Chen, Jun-Zhen; Yin, Shan-Kai; Huang, Tao-Sheng; Chen, Ping; Guan, Min-Xin; Wang, Jin-Fu

    2016-05-01

    The genetic correction of induced pluripotent stem cells (iPSCs) induced from somatic cells of patients with sensorineural hearing loss (caused by hereditary factors) is a promising method for its treatment. The correction of gene mutations in iPSCs could restore the normal function of cells and provide a rich source of cells for transplantation. In the present study, iPSCs were generated from a deaf patient with compound heterozygous MYO7A mutations (c.1184G>A and c.4118C>T; P-iPSCs), the asymptomatic father of the patient (MYO7A c.1184G>A mutation; CF-iPSCs), and a normal donor (MYO7A(WT/WT); C-iPSCs). One of MYO7A mutation sites (c.4118C>T) in the P-iPSCs was corrected using CRISPR/Cas9. The corrected iPSCs (CP-iPSCs) retained cell pluripotency and normal karyotypes. Hair cell-like cells induced from CP-iPSCs showed restored organization of stereocilia-like protrusions; moreover, the electrophysiological function of these cells was similar to that of cells induced from C-iPSCs and CF-iPSCs. These results might facilitate the development of iPSC-based gene therapy for genetic disorders. Induced pluripotent stem cells (iPSCs) were generated from a deaf patient with compound heterozygous MYO7A mutations (c.1184G>A and c.4118C>T). One of the MYO7A mutation sites (c.4118C>T) in the iPSCs was corrected using CRISPR/Cas9. The genetic correction of MYO7A mutation resulted in morphologic and functional recovery of hair cell-like cells derived from iPSCs. These findings confirm the hypothesis that MYO7A plays an important role in the assembly of stereocilia into stereociliary bundles. Thus, the present study might provide further insight into the pathogenesis of sensorineural hearing loss and facilitate the development of therapeutic strategies against monogenic disease through the genetic repair of patient-specific iPSCs. ©AlphaMed Press.

  18. Complete genomes reveal signatures of demographic and genetic declines in the woolly mammoth

    Science.gov (United States)

    Palkopoulou, Eleftheria; Mallick, Swapan; Skoglund, Pontus; Enk, Jacob; Rohland, Nadin; Li, Heng; Omrak, Ayça; Vartanyan, Sergey; Poinar, Hendrik; Götherström, Anders; Reich, David; Dalén, Love

    2015-01-01

    Summary The processes leading up to species extinctions are typically characterized by prolonged declines in population size and geographic distribution, followed by a phase in which populations are very small and may be subject to intrinsic threats, including loss of genetic diversity and inbreeding [1]. However, whether such genetic factors have had an impact on species prior to their extinction is unclear [2, 3]; examining this would require a detailed reconstruction of a species’ demographic history as well as changes in genome-wide diversity leading up to its extinction. Here, we present high-quality complete genome sequences from two woolly mammoths (Mammuthus primigenius). The first mammoth was sequenced at 17.1-fold coverage, and dates to ~4,300 years before present, constituting one of the last surviving individuals on Wrangel Island. The second mammoth, sequenced at 11.2-fold coverage, was obtained from a ~44,800 year old specimen from the Late Pleistocene population in northeastern Siberia. The demographic trajectories inferred from the two genomes are qualitatively similar and reveal a population bottleneck during the Middle or Early Pleistocene, and a more recent severe decline in the ancestors of the Wrangel mammoth at the end of the last glaciation. A comparison of the two genomes shows that the Wrangel mammoth has a 20% reduction in heterozygosity as well as a 28-fold increase in the fraction of the genome that is comprised of runs of homozygosity. We conclude that the population on Wrangel Island, which was the last surviving woolly mammoth population, was subject to reduced genetic diversity shortly before it became extinct. PMID:25913407

  19. Genetic Variance in Homophobia: Evidence from Self- and Peer Reports.

    Science.gov (United States)

    Zapko-Willmes, Alexandra; Kandler, Christian

    2018-01-01

    The present twin study combined self- and peer assessments of twins' general homophobia targeting gay men in order to replicate previous behavior genetic findings across different rater perspectives and to disentangle self-rater-specific variance from common variance in self- and peer-reported homophobia (i.e., rater-consistent variance). We hypothesized rater-consistent variance in homophobia to be attributable to genetic and nonshared environmental effects, and self-rater-specific variance to be partially accounted for by genetic influences. A sample of 869 twins and 1329 peer raters completed a seven item scale containing cognitive, affective, and discriminatory homophobic tendencies. After correction for age and sex differences, we found most of the genetic contributions (62%) and significant nonshared environmental contributions (16%) to individual differences in self-reports on homophobia to be also reflected in peer-reported homophobia. A significant genetic component, however, was self-report-specific (38%), suggesting that self-assessments alone produce inflated heritability estimates to some degree. Different explanations are discussed.

  20. Peripartum Cardiomyopathy: Moving Towards a More Central Role of Genetics#

    Science.gov (United States)

    Cemin, Roberto; Janardhanan, Rajesh; Donazzan, Luca; Daves, Massimo

    2013-01-01

    Peripartum cardiomyopathy (PCM) is a relatively rare disease with potentially devasting consequences requiring prompt identification and correct treatment. Overall prognosis is good in majority of the cases, although some patients may progress to irreversible heart failure. Early diagnosis is important and effective treatment reduces mortality rates and increases the chance of complete recovery of ventricular systolic function. The aetiology and pathogenesis seems to be multifactorial and poorly understood, with the available literature rather conflicting. In recent years, there has been increased interest in the role played by genetic predisposition in the development of PCM. It probably develops as a result of a complex interaction of pregnancy-associated factors and genetic factors and recently there have been many observations pointing out the central role played by a genetic predisposition. The direct and indirect observations on genetic susceptibility may offer new insights into the pathogenesis of PCM. However, larger studies are needed before advising routine genetic testing in these patients. PMID:23909634

  1. Correctional Education Teachers' Teaching Competence and Use of ...

    African Journals Online (AJOL)

    Correctional Education Teachers' Teaching Competence Genet G. and Haftu H. 83. ORIGINAL ARTICLE. Correctional Education Teachers' ... Educational and Behavioral Sciences, Bahir Dar University. ** Assistant Professor, Teacher Education ... evaluation of available research, it is obvious that education programs in.

  2. Identification and Correction of Sample Mix-Ups in Expression Genetic Data: A Case Study.

    Science.gov (United States)

    Broman, Karl W; Keller, Mark P; Broman, Aimee Teo; Kendziorski, Christina; Yandell, Brian S; Sen, Śaunak; Attie, Alan D

    2015-08-19

    In a mouse intercross with more than 500 animals and genome-wide gene expression data on six tissues, we identified a high proportion (18%) of sample mix-ups in the genotype data. Local expression quantitative trait loci (eQTL; genetic loci influencing gene expression) with extremely large effect were used to form a classifier to predict an individual's eQTL genotype based on expression data alone. By considering multiple eQTL and their related transcripts, we identified numerous individuals whose predicted eQTL genotypes (based on their expression data) did not match their observed genotypes, and then went on to identify other individuals whose genotypes did match the predicted eQTL genotypes. The concordance of predictions across six tissues indicated that the problem was due to mix-ups in the genotypes (although we further identified a small number of sample mix-ups in each of the six panels of gene expression microarrays). Consideration of the plate positions of the DNA samples indicated a number of off-by-one and off-by-two errors, likely the result of pipetting errors. Such sample mix-ups can be a problem in any genetic study, but eQTL data allow us to identify, and even correct, such problems. Our methods have been implemented in an R package, R/lineup. Copyright © 2015 Broman et al.

  3. PROBLEM SETTING AND SOLUTION OF THE RESPONSE CORRECTION OF ARRIVAL AND DEPARTURE AIR TRAFFIC FLOW IN THE VICINITY OF THE FIELD BY MEANS OF THE GENETIC ALGORITHM

    Directory of Open Access Journals (Sweden)

    Georgii N. Lebedev

    2017-01-01

    Full Text Available The improvement in the effectiveness of airfield operation largely depends on the problem solving quality on the interaction boundaries of different technological sections. One of such hotspots is the use of the same runway by inbound and outbound aircraft. At certain intensity of outbound and inbound air traffic flow the conflict of aircraft interests appears, where it may be quite difficult to sort out priorities even for experienced controllers, in consequence of which mistakes in decision-making unavoidably appear.In this work the task of response correction of landing and takeoff time of the aircraft using the same RW, in condition of the conflict of interests “arrival – departure” at the increased operating intensity is formulated. The choice of optimal solution is made taking into account mutual interests without the complete sorting and the evaluation of all solutions.Accordingly, the genetic algorithm, which offers a simple and effective approach to optimal control problem solution by providing flight safety at an acceptably high level, is proposed. The estimation of additional aviation fuel consumption is used as optimal choice evaluation criterion.The advantages of the genetic algorithm application at decision-making in comparison with today’s “team” solution of the conflict “departure – arrival” in the airfield area are shown.

  4. Permanent complete heart block following surgical correction of ...

    African Journals Online (AJOL)

    Conclusion: Permanent post-operative complete heart block occurred in 1.3% of patients undergoing VSD repair and 5.5% of those undergoing repair of conotruncal anomalies (Fallot's tetralogy). The dominant anatomic risk factor was a large perimembranous VSD as an isolated defect or as part of a conotruncal anomaly.

  5. NLO corrections to the photon impact factor: Combining real and virtual corrections

    International Nuclear Information System (INIS)

    Bartels, J.; Colferai, D.; Kyrieleis, A.; Gieseke, S.

    2002-08-01

    In this third part of our calculation of the QCD NLO corrections to the photon impact factor we combine our previous results for the real corrections with the singular pieces of the virtual corrections and present finite analytic expressions for the quark-antiquark-gluon intermediate state inside the photon impact factor. We begin with a list of the infrared singular pieces of the virtual correction, obtained in the first step of our program. We then list the complete results for the real corrections (longitudinal and transverse photon polarization). In the next step we defined, for the real corrections, the collinear and soft singular regions and calculate their contributions to the impact factor. We then subtract the contribution due to the central region. Finally, we combine the real corrections with the singular pieces of the virtual corrections and obtain our finite results. (orig.)

  6. Author Correction: The genetic prehistory of the Baltic Sea region.

    Science.gov (United States)

    Mittnik, Alissa; Wang, Chuan-Chao; Pfrengle, Saskia; Daubaras, Mantas; Zariņa, Gunita; Hallgren, Fredrik; Allmäe, Raili; Khartanovich, Valery; Moiseyev, Vyacheslav; Tõrv, Mari; Furtwängler, Anja; Valtueña, Aida Andrades; Feldman, Michal; Economou, Christos; Oinonen, Markku; Vasks, Andrejs; Balanovska, Elena; Reich, David; Jankauskas, Rimantas; Haak, Wolfgang; Schiffels, Stephan; Krause, Johannes

    2018-04-11

    The original version of this Article omitted references to previous work, which are detailed in the associated Author Correction. These omissions have been corrected in both the PDF and HTML versions of the Article.

  7. MCPerm: a Monte Carlo permutation method for accurately correcting the multiple testing in a meta-analysis of genetic association studies.

    Directory of Open Access Journals (Sweden)

    Yongshuai Jiang

    Full Text Available Traditional permutation (TradPerm tests are usually considered the gold standard for multiple testing corrections. However, they can be difficult to complete for the meta-analyses of genetic association studies based on multiple single nucleotide polymorphism loci as they depend on individual-level genotype and phenotype data to perform random shuffles, which are not easy to obtain. Most meta-analyses have therefore been performed using summary statistics from previously published studies. To carry out a permutation using only genotype counts without changing the size of the TradPerm P-value, we developed a Monte Carlo permutation (MCPerm method. First, for each study included in the meta-analysis, we used a two-step hypergeometric distribution to generate a random number of genotypes in cases and controls. We then carried out a meta-analysis using these random genotype data. Finally, we obtained the corrected permutation P-value of the meta-analysis by repeating the entire process N times. We used five real datasets and five simulation datasets to evaluate the MCPerm method and our results showed the following: (1 MCPerm requires only the summary statistics of the genotype, without the need for individual-level data; (2 Genotype counts generated by our two-step hypergeometric distributions had the same distributions as genotype counts generated by shuffling; (3 MCPerm had almost exactly the same permutation P-values as TradPerm (r = 0.999; P<2.2e-16; (4 The calculation speed of MCPerm is much faster than that of TradPerm. In summary, MCPerm appears to be a viable alternative to TradPerm, and we have developed it as a freely available R package at CRAN: http://cran.r-project.org/web/packages/MCPerm/index.html.

  8. Genetics of ischaemic stroke in young adults

    OpenAIRE

    Terni, Eva; Giannini, Nicola; Brondi, Marco; Montano, Vincenzo; Bonuccelli, Ubaldo; Mancuso, Michelangelo

    2015-01-01

    Background: Stroke may be a clinical expression of several inherited disorders in humans. Recognition of the underlined genetic disorders causing stroke is important for a correct diagnosis, for genetic counselling and, even if rarely, for a correct therapeutic management. Moreover, the genetics of complex diseases such the stroke, in which multiple genes interact with environmental risk factors to increase risk, has been revolutionized by the Genome-Wide Association Study (GWAS) approach. ...

  9. Completion Report for Well ER-2-2 Corrective Action Unit 97: Yucca Flat/Climax Mine

    International Nuclear Information System (INIS)

    Wurtz, Jeffrey; Rehfeldt, Ken

    2017-01-01

    Well ER-2-2 was drilled for the U.S. Department of Energy, Nevada National Security Administration Nevada Field Office in support of the Underground Test Area (UGTA) Activity. The well was drilled from January 17 to February 8, 2016, as part of the Corrective Action Investigation Plan (CAIP) for Corrective Action Unit 97: Yucca Flat/Climax Mine, Nevada Test Site, Nevada. The primary purpose of the well was to collect hydrogeologic data to evaluate uncertainty in the flow and transport conceptual model and its contamination boundary forecasts, and to detect radionuclides in groundwater from the CALABASH (U2av) underground test. Well ER-2-2 was not completed as planned due to borehole stability problems. As completed, the well includes a piezometer (p1) to 582 meters (m) (1,909 feet [ft]) below ground surface (bgs) installed in the Timber Mountain lower vitric-tuff aquifer (TMLVTA) and a 12.25-inch (in.) diameter open borehole to 836 m (2,743 ft) bgs in the Lower tuff confining unit (LTCU). A 13.375-in. diameter carbon-steel casing is installed from the surface to a depth of 607 m (1,990 ft) bgs. Data collected during borehole construction include composite drill cutting samples collected every 3.0 m (10 ft), geophysical logs to a depth of 672.4 m (2,206 ft) bgs, water-quality measurements (including tritium), water-level measurements, and slug test data. The well penetrated 384.05 m (1,260 ft) of Quaternary alluvium, 541.93 m (1,778 ft) of Tertiary Volcanics (Tv) rocks, and 127.71 m (419 ft) of Paleozoic carbonates. The stratigraphy and lithology were generally as expected. However, several of the stratigraphic units were significantly thicker then predicted - principally, the Tunnel formation (Tn), which had been predicted to be 30 m (100 ft) thick; the actual thickness of this unit was 268.22 m (880 ft). Fluid depths were measured in the borehole during drilling as follows: (1) in the piezometer (p1) at 552.15 m (1,811.53 ft) bgs and (2) in the main casing (m1) at

  10. Completion Report for Well ER-2-2 Corrective Action Unit 97: Yucca Flat/Climax Mine

    Energy Technology Data Exchange (ETDEWEB)

    Wurtz, Jeffrey [Navarro, Las Vegas, NV (United States); Rehfeldt, Ken [Navarro, Las Vegas, NV (United States)

    2017-01-01

    Well ER-2-2 was drilled for the U.S. Department of Energy, Nevada National Security Administration Nevada Field Office in support of the Underground Test Area (UGTA) Activity. The well was drilled from January 17 to February 8, 2016, as part of the Corrective Action Investigation Plan (CAIP) for Corrective Action Unit 97: Yucca Flat/Climax Mine, Nevada Test Site, Nevada. The primary purpose of the well was to collect hydrogeologic data to evaluate uncertainty in the flow and transport conceptual model and its contamination boundary forecasts, and to detect radionuclides in groundwater from the CALABASH (U2av) underground test. Well ER-2-2 was not completed as planned due to borehole stability problems. As completed, the well includes a piezometer (p1) to 582 meters (m) (1,909 feet [ft]) below ground surface (bgs) installed in the Timber Mountain lower vitric-tuff aquifer (TMLVTA) and a 12.25-inch (in.) diameter open borehole to 836 m (2,743 ft) bgs in the Lower tuff confining unit (LTCU). A 13.375-in. diameter carbon-steel casing is installed from the surface to a depth of 607 m (1,990 ft) bgs. Data collected during borehole construction include composite drill cutting samples collected every 3.0 m (10 ft), geophysical logs to a depth of 672.4 m (2,206 ft) bgs, water-quality measurements (including tritium), water-level measurements, and slug test data. The well penetrated 384.05 m (1,260 ft) of Quaternary alluvium, 541.93 m (1,778 ft) of Tertiary Volcanics (Tv) rocks, and 127.71 m (419 ft) of Paleozoic carbonates. The stratigraphy and lithology were generally as expected. However, several of the stratigraphic units were significantly thicker then predicted—principally, the Tunnel formation (Tn), which had been predicted to be 30 m (100 ft) thick; the actual thickness of this unit was 268.22 m (880 ft). Fluid depths were measured in the borehole during drilling as follows: (1) in the piezometer (p1) at 552.15 m (1,811.53 ft) bgs and (2) in the main casing (m1) at

  11. 77 FR 5840 - Notice of Inventory Completion: Kingman Museum, Incorporated, Battle Creek, MI; Correction

    Science.gov (United States)

    2012-02-06

    ..., Thursday, April 17, 2008), and also corrects the identity of the category of cultural item for a scalp.... SUMMARY: This notice corrects the cultural affiliation of the human remains of two individuals described... believes it has a cultural affiliation with the human remains and associated funerary objects should...

  12. Keratoprotection treatment after excimerlaser vision correction

    Directory of Open Access Journals (Sweden)

    S. A. Korotkikh

    2015-01-01

    Full Text Available Observational study of patients after excimerlaser vision correction by LASEK method.Purpose: to estimate efficacy HILOZAR-COMOD® solution in patients after excimerlaser vision correction.Patients and methods: We examined 80 eyes (40 patients after excimer laser correction by LASIK method. All patients were divided in 2 groups. The patients from the first group were treated with by standard drug’s scheme, included deprotein izing the dialysate from the blood of healthy dairy calves (Solkoseryl® eye gel. HILOZAR-COMOD ® was prescribed as cornea protector in the 2 group of patients.Results: In the first group complete cornea epitalization by biomicroscopy in 70 % eyes after 48 hours of excimerlaser vision correction was found. Minimal unepitalization areas were diagnosed in 30 % (12 eyes. In the second group complete cornea epitalization was found in 82,5 % eyes (33 eyes in the same term after excimerlaser correction. Cornea epitelium defects in optical area were diagnosed in the17,5 % eyes. The difference between number of patients with cornea epitelium defects first and second groups was 12,5 %. 97,5 % patients (39 eyes of second group (HILOZAR-COMOD ® had complete cornea epitelization after 72 hours of excimer laser correction. In the same term unepitelization areas were found in 3 eyes (7,5 % in patients of first group. It was to 5 % more than in the first group, where dexpantenol and hyaluronic acid was used (complete cornea epitalization in first group was found in 37 eyes.Conclusions: The combined medicine included dexpantenol and hyaluronic acid decreases intensity of the dry eye symptoms, stimulate quick and full cornea healing and decrease the risk of postoperative complications risk.

  13. Genetic variant SLC2A2 [corrected] Is associated with risk of cardiovascular disease – assessing the individual and cumulative effect of 46 type 2 diabetes related genetic variants.

    Directory of Open Access Journals (Sweden)

    Anders Borglykke

    Full Text Available To assess the individual and combined effect of 46 type 2 diabetes related risk alleles on incidence of a composite CVD endpoint.Data from the first Danish MONICA study (N = 3523 and the Inter99 study (N = 6049 was used. Using Cox proportional hazard regression the individual effect of each risk allele on incident CVD was analyzed. Risk was presented as hazard ratios (HR per risk allele.During 80,859 person years 1441 incident cases of CVD (fatal and non-fatal occurred in the MONICA study. In Inter99 942 incident cases were observed during 61,239 person years. In the Danish MONICA study four gene variants were significantly associated with incident CVD independently of known diabetes status at baseline; SLC2A2 rs11920090 (HR 1.147, 95% CI 1.027-1.283 , P = 0.0154, C2CD4A rs7172432 (1.112, 1.027-1.205 , P = 0.0089, GCKR rs780094 (1.094, 1.007-1.188 , P = 0.0335 and C2CD4B rs11071657 (1.092, 1.007-1.183 , P = 0.0323. The genetic score was significantly associated with increased risk of CVD (1.025, 1.010-1.041, P = 0.0016. In Inter99 two gene variants were associated with risk of CVD independently of diabetes; SLC2A2 (HR 1.180, 95% CI 1.038-1.341 P = 0.0116 and FTO (0.909, 0.827-0.998, P = 0.0463. Analysing the two populations together we found SLC2A2 rs11920090 (HR 1.164, 95% CI 1.070-1.267, P = 0.0004 meeting the Bonferroni corrected threshold for significance. GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229, C2CD4B rs11071657 (1.067, 1.003-1.135, P = 0.0385 and NOTCH2 rs10923931 (1.104 (1.001 ; 1.217 , P = 0.0481 were found associated with CVD without meeting the corrected threshold. The genetic score was significantly associated with increased risk of CVD (1.018, 1.006-1.031, P = 0.0043.This study showed that out of the 46 genetic variants examined only the minor risk allele of SLC2A2 rs11920090 was significantly (P = 0.0005 associated with a composite endpoint of incident CVD below the threshold for statistical significance corrected for

  14. A new cell culture model to genetically dissect the complete human papillomavirus life cycle.

    Science.gov (United States)

    Bienkowska-Haba, Malgorzata; Luszczek, Wioleta; Myers, Julia E; Keiffer, Timothy R; DiGiuseppe, Stephen; Polk, Paula; Bodily, Jason M; Scott, Rona S; Sapp, Martin

    2018-03-01

    Herein, we describe a novel infection model that achieves highly efficient infection of primary keratinocytes with human papillomavirus type 16 (HPV16). This cell culture model does not depend on immortalization and is amenable to extensive genetic analyses. In monolayer cell culture, the early but not late promoter was active and yielded a spliced viral transcript pattern similar to HPV16-immortalized keratinocytes. However, relative levels of the E8^E2 transcript increased over time post infection suggesting the expression of this viral repressor is regulated independently of other early proteins and that it may be important for the shift from the establishment to the maintenance phase of the viral life cycle. Both the early and the late promoter were strongly activated when infected cells were subjected to differentiation by growth in methylcellulose. When grown as organotypic raft cultures, HPV16-infected cells expressed late E1^E4 and L1 proteins and replication foci were detected, suggesting that they supported the completion of the viral life cycle. As a proof of principle that the infection system may be used for genetic dissection of viral factors, we analyzed E1, E6 and E7 translation termination linker mutant virus for establishment of infection and genome maintenance. E1 but not E6 and E7 was essential to establish infection. Furthermore, E6 but not E7 was required for episomal genome maintenance. Primary keratinocytes infected with wild type HPV16 immortalized, whereas keratinocytes infected with E6 and E7 knockout virus began to senesce 25 to 35 days post infection. The novel infection model provides a powerful genetic tool to study the role of viral proteins throughout the viral life cycle but especially for immediate early events and enables us to compare low- and high-risk HPV types in the context of infection.

  15. A new cell culture model to genetically dissect the complete human papillomavirus life cycle.

    Directory of Open Access Journals (Sweden)

    Malgorzata Bienkowska-Haba

    2018-03-01

    Full Text Available Herein, we describe a novel infection model that achieves highly efficient infection of primary keratinocytes with human papillomavirus type 16 (HPV16. This cell culture model does not depend on immortalization and is amenable to extensive genetic analyses. In monolayer cell culture, the early but not late promoter was active and yielded a spliced viral transcript pattern similar to HPV16-immortalized keratinocytes. However, relative levels of the E8^E2 transcript increased over time post infection suggesting the expression of this viral repressor is regulated independently of other early proteins and that it may be important for the shift from the establishment to the maintenance phase of the viral life cycle. Both the early and the late promoter were strongly activated when infected cells were subjected to differentiation by growth in methylcellulose. When grown as organotypic raft cultures, HPV16-infected cells expressed late E1^E4 and L1 proteins and replication foci were detected, suggesting that they supported the completion of the viral life cycle. As a proof of principle that the infection system may be used for genetic dissection of viral factors, we analyzed E1, E6 and E7 translation termination linker mutant virus for establishment of infection and genome maintenance. E1 but not E6 and E7 was essential to establish infection. Furthermore, E6 but not E7 was required for episomal genome maintenance. Primary keratinocytes infected with wild type HPV16 immortalized, whereas keratinocytes infected with E6 and E7 knockout virus began to senesce 25 to 35 days post infection. The novel infection model provides a powerful genetic tool to study the role of viral proteins throughout the viral life cycle but especially for immediate early events and enables us to compare low- and high-risk HPV types in the context of infection.

  16. A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems.

    Science.gov (United States)

    Araújo, Luciano V; Malkowski, Simon; Braghetto, Kelly R; Passos-Bueno, Maria R; Zatz, Mayana; Pu, Calton; Ferreira, João E

    2011-12-22

    Recent medical and biological technology advances have stimulated the development of new testing systems that have been providing huge, varied amounts of molecular and clinical data. Growing data volumes pose significant challenges for information processing systems in research centers. Additionally, the routines of genomics laboratory are typically characterized by high parallelism in testing and constant procedure changes. This paper describes a formal approach to address this challenge through the implementation of a genetic testing management system applied to human genome laboratory. We introduced the Human Genome Research Center Information System (CEGH) in Brazil, a system that is able to support constant changes in human genome testing and can provide patients updated results based on the most recent and validated genetic knowledge. Our approach uses a common repository for process planning to ensure reusability, specification, instantiation, monitoring, and execution of processes, which are defined using a relational database and rigorous control flow specifications based on process algebra (ACP). The main difference between our approach and related works is that we were able to join two important aspects: 1) process scalability achieved through relational database implementation, and 2) correctness of processes using process algebra. Furthermore, the software allows end users to define genetic testing without requiring any knowledge about business process notation or process algebra. This paper presents the CEGH information system that is a Laboratory Information Management System (LIMS) based on a formal framework to support genetic testing management for Mendelian disorder studies. We have proved the feasibility and showed usability benefits of a rigorous approach that is able to specify, validate, and perform genetic testing using easy end user interfaces.

  17. The complete nucleotide sequences of the 5 genetically distinct plastid genomes of Oenothera, subsection Oenothera: II. A microevolutionary view using bioinformatics and formal genetic data.

    Science.gov (United States)

    Greiner, Stephan; Wang, Xi; Herrmann, Reinhold G; Rauwolf, Uwe; Mayer, Klaus; Haberer, Georg; Meurer, Jörg

    2008-09-01

    A unique combination of genetic features and a rich stock of information make the flowering plant genus Oenothera an appealing model to explore the molecular basis of speciation processes including nucleus-organelle coevolution. From representative species, we have recently reported complete nucleotide sequences of the 5 basic and genetically distinguishable plastid chromosomes of subsection Oenothera (I-V). In nature, Oenothera plastid genomes are associated with 6 distinct, either homozygous or heterozygous, diploid nuclear genotypes of the 3 basic genomes A, B, or C. Artificially produced plastome-genome combinations that do not occur naturally often display interspecific plastome-genome incompatibility (PGI). In this study, we compare formal genetic data available from all 30 plastome-genome combinations with sequence differences between the plastomes to uncover potential determinants for interspecific PGI. Consistent with an active role in speciation, a remarkable number of genes have high Ka/Ks ratios. Different from the Solanacean cybrid model Atropa/tobacco, RNA editing seems not to be relevant for PGIs in Oenothera. However, predominantly sequence polymorphisms in intergenic segments are proposed as possible sources for PGI. A single locus, the bidirectional promoter region between psbB and clpP, is suggested to contribute to compartmental PGI in the interspecific AB hybrid containing plastome I (AB-I), consistent with its perturbed photosystem II activity.

  18. Characterization of a genetically engineered mouse model of hemophilia A with complete deletion of the F8 gene.

    Science.gov (United States)

    Chao, B N; Baldwin, W H; Healey, J F; Parker, E T; Shafer-Weaver, K; Cox, C; Jiang, P; Kanellopoulou, C; Lollar, P; Meeks, S L; Lenardo, M J

    2016-02-01

    ESSENTIALS: Anti-factor VIII (FVIII) inhibitory antibody formation is a severe complication in hemophilia A therapy. We genetically engineered and characterized a mouse model with complete deletion of the F8 coding region. F8(TKO) mice exhibit severe hemophilia, express no detectable F8 mRNA, and produce FVIII inhibitors. The defined background and lack of FVIII in F8(TKO) mice will aid in studying FVIII inhibitor formation. The most important complication in hemophilia A treatment is the development of inhibitory anti-Factor VIII (FVIII) antibodies in patients after FVIII therapy. Patients with severe hemophilia who express no endogenous FVIII (i.e. cross-reacting material, CRM) have the greatest incidence of inhibitor formation. However, current mouse models of severe hemophilia A produce low levels of truncated FVIII. The lack of a corresponding mouse model hampers the study of inhibitor formation in the complete absence of FVIII protein. We aimed to generate and characterize a novel mouse model of severe hemophilia A (designated the F8(TKO) strain) lacking the complete coding sequence of F8 and any FVIII CRM. Mice were created on a C57BL/6 background using Cre-Lox recombination and characterized using in vivo bleeding assays, measurement of FVIII activity by coagulation and chromogenic assays, and anti-FVIII antibody production using ELISA. All F8 exonic coding regions were deleted from the genome and no F8 mRNA was detected in F8(TKO) mice. The bleeding phenotype of F8(TKO) mice was comparable to E16 mice by measurements of factor activity and tail snip assay. Similar levels of anti-FVIII antibody titers after recombinant FVIII injections were observed between F8(TKO) and E16 mice. We describe a new C57BL/6 mouse model for severe hemophilia A patients lacking CRM. These mice can be directly bred to the many C57BL/6 strains of genetically engineered mice, which is valuable for studying the impact of a wide variety of genes on FVIII inhibitor formation on a

  19. Complete genome sequence of hypervirulent and outbreak-associated Acinetobacter baumannii strain LAC-4: epidemiology, resistance genetic determinants and potential virulence factors

    Science.gov (United States)

    Ou, Hong-Yu; Kuang, Shan N.; He, Xinyi; Molgora, Brenda M.; Ewing, Peter J.; Deng, Zixin; Osby, Melanie; Chen, Wangxue; Xu, H. Howard

    2015-01-01

    Acinetobacter baumannii is an important human pathogen due to its multi-drug resistance. In this study, the genome of an ST10 outbreak A. baumannii isolate LAC-4 was completely sequenced to better understand its epidemiology, antibiotic resistance genetic determinants and potential virulence factors. Compared with 20 other complete genomes of A. baumannii, LAC-4 genome harbors at least 12 copies of five distinct insertion sequences. It contains 12 and 14 copies of two novel IS elements, ISAba25 and ISAba26, respectively. Additionally, three novel composite transposons were identified: Tn6250, Tn6251 and Tn6252, two of which contain resistance genes. The antibiotic resistance genetic determinants on the LAC-4 genome correlate well with observed antimicrobial susceptibility patterns. Moreover, twelve genomic islands (GI) were identified in LAC-4 genome. Among them, the 33.4-kb GI12 contains a large number of genes which constitute the K (capsule) locus. LAC-4 harbors several unique putative virulence factor loci. Furthermore, LAC-4 and all 19 other outbreak isolates were found to harbor a heme oxygenase gene (hemO)-containing gene cluster. The sequencing of the first complete genome of an ST10 A. baumannii clinical strain should accelerate our understanding of the epidemiology, mechanisms of resistance and virulence of A. baumannii. PMID:25728466

  20. Clean Slate 1 corrective action decision document, Corrective Action Unit No. 412. Revision 1

    International Nuclear Information System (INIS)

    1997-04-01

    A Corrective Action Investigation has been completed at the Clean Slate 1 (CS-1) Site, located in the central portion of the Tonopah Test Range. The purpose of this CADD is to identify and evaluate potential correct action alternatives at the CS-1 Site and to evaluate these alternatives with respect to their technical, human health, and environmental benefits and to their cost. Base on this evaluation a corrective action will be recommended for implementation at the CS-1 Site

  1. Complete Genome of Stachybotrys chartarum strain 51-11

    Data.gov (United States)

    U.S. Environmental Protection Agency — Complete genome sequence of the fungus Stachybotrys chartarum. Sequences can be used to identify genes, genetic pathways, gene clusters, genetic organization, etc....

  2. Correcting ligands, metabolites, and pathways

    Directory of Open Access Journals (Sweden)

    Vriend Gert

    2006-11-01

    Full Text Available Abstract Background A wide range of research areas in bioinformatics, molecular biology and medicinal chemistry require precise chemical structure information about molecules and reactions, e.g. drug design, ligand docking, metabolic network reconstruction, and systems biology. Most available databases, however, treat chemical structures more as illustrations than as a datafield in its own right. Lack of chemical accuracy impedes progress in the areas mentioned above. We present a database of metabolites called BioMeta that augments the existing pathway databases by explicitly assessing the validity, correctness, and completeness of chemical structure and reaction information. Description The main bulk of the data in BioMeta were obtained from the KEGG Ligand database. We developed a tool for chemical structure validation which assesses the chemical validity and stereochemical completeness of a molecule description. The validation tool was used to examine the compounds in BioMeta, showing that a relatively small number of compounds had an incorrect constitution (connectivity only, not considering stereochemistry and that a considerable number (about one third had incomplete or even incorrect stereochemistry. We made a large effort to correct the errors and to complete the structural descriptions. A total of 1468 structures were corrected and/or completed. We also established the reaction balance of the reactions in BioMeta and corrected 55% of the unbalanced (stoichiometrically incorrect reactions in an automatic procedure. The BioMeta database was implemented in PostgreSQL and provided with a web-based interface. Conclusion We demonstrate that the validation of metabolite structures and reactions is a feasible and worthwhile undertaking, and that the validation results can be used to trigger corrections and improvements to BioMeta, our metabolite database. BioMeta provides some tools for rational drug design, reaction searches, and

  3. Completion Report for Well ER-12-3 Corrective Action Unit 99: Rainier Mesa - Shoshone Mountain

    International Nuclear Information System (INIS)

    2006-01-01

    Well ER-12-3 was drilled for the U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office, in support of the Nevada Environmental Restoration Project at the Nevada Test Site, Nye County, Nevada. The well was drilled in March and April 2005 as part of a hydrogeologic investigation program for the Rainier Mesa-Shoshone Mountain Corrective Action Unit. The overall purpose of the well was to gather subsurface data to better characterize the hydrogeology of central Rainier Mesa, especially in the older Tertiary volcanic rocks and Paleozoic sedimentary rocks. The main 47.0-centimeter hole was drilled to a depth of 799.2 meters and cased with 33.97-centimeter casing to 743.1 meters. The hole diameter was then decreased to 31.1 centimeters, and the well was drilled to a total depth of 1,496.0 meters. The completion string consisted of 13.97-centimeter stainless steel casing, with two slotted intervals open to the lower carbonate aquifer, suspended from 19.37-centimeter carbon steel casing. A piezometer string was installed outside the 33.97-centimeter casing to a depth of 467.1 meters to monitor a zone of perched water within the Tertiary volcanic section. Data gathered during and shortly after hole construction include composite drill cuttings samples collected every 3 meters (extra cuttings samples were collected from the Paleozoic rocks for paleontological analyses), sidewall core samples from 35 depths, various geophysical logs, and water level measurements. These data indicate that the well penetrated 674.2 meters of Tertiary volcanic rocks and 821.7 meters of Paleozoic dolomite and limestone. Forty-nine days after the well was completed, but prior to well development and testing, the water level inside the main hole was tagged at the depth of 949.1 meters, and the water level inside the piezometer string was tagged at 379.9 meters

  4. Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafness.

    Science.gov (United States)

    Rodrigues, Fidjy; Paneque, Milena; Reis, Cláudia; Venâncio, Margarida; Sequeiros, Jorge; Saraiva, Jorge

    2013-08-01

    Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the etiology of the deafness and to provide genetic counseling. Consequently, there are no published studies of the prior beliefs of parents about the causes of hereditary deafness of their children and their genetic knowledge after receipt of genetic counseling. In order to evaluate the impact of genetic counseling, 44 parents of 24 children with the diagnosis of non-syndromic sensorineural prelingual deafness due to mutations in the GJB2 (connexin 26), completed surveys before and after genetic counseling. Before counseling 13.6 % of the parents knew the cause of deafness; at a post-counseling setting this percentage was significantly higher, with 84.1 % of the parents accurately identifying the etiology. No significant differences were found between the answers of mothers and fathers either before or after genetic counseling. Parents' level of education was a significant factor in pre-test knowledge. After genetic counseling 95.5 % of the parents stated that the consultation had met their expectations, 70.5 % remembered correctly the inheritance pattern, and 93.2 % correctly recalled the chance of risk of deafness. These results underline the importance of genetic counseling in demystifying parents' beliefs about the etiology of their children's deafness.

  5. Clinical and genetic characterization of six cases with complete ...

    Indian Academy of Sciences (India)

    The clinical examinations such as sex hormone test and B ultrasound were performed and the genetic characterization of patients were evaluated by karyotype analysis, polymerase chain reaction and DNA sequencing. The six cases with 46, XY karyotype were diagnosed with CAIS and four novel AR mutations were ...

  6. Network Completion for Static Gene Expression Data

    Directory of Open Access Journals (Sweden)

    Natsu Nakajima

    2014-01-01

    Full Text Available We tackle the problem of completing and inferring genetic networks under stationary conditions from static data, where network completion is to make the minimum amount of modifications to an initial network so that the completed network is most consistent with the expression data in which addition of edges and deletion of edges are basic modification operations. For this problem, we present a new method for network completion using dynamic programming and least-squares fitting. This method can find an optimal solution in polynomial time if the maximum indegree of the network is bounded by a constant. We evaluate the effectiveness of our method through computational experiments using synthetic data. Furthermore, we demonstrate that our proposed method can distinguish the differences between two types of genetic networks under stationary conditions from lung cancer and normal gene expression data.

  7. Complete in vitro life cycle of Trypanosoma congolense: development of genetic tools.

    Directory of Open Access Journals (Sweden)

    Virginie Coustou

    Full Text Available BACKGROUND: Animal African trypanosomosis, a disease mainly caused by the protozoan parasite Trypanosoma congolense, is a major constraint to livestock productivity and has a significant impact in the developing countries of Africa. RNA interference (RNAi has been used to study gene function and identify drug and vaccine targets in a variety of organisms including trypanosomes. However, trypanosome RNAi studies have mainly been conducted in T. brucei, as a model for human infection, largely ignoring livestock parasites of economical importance such as T. congolense, which displays different pathogenesis profiles. The whole T. congolense life cycle can be completed in vitro, but this attractive model displayed important limitations: (i genetic tools were currently limited to insect forms and production of modified infectious BSF through differentiation was never achieved, (ii in vitro differentiation techniques lasted several months, (iii absence of long-term bloodstream forms (BSF in vitro culture prevented genomic analyses. METHODOLOGY/PRINCIPAL FINDINGS: We optimized culture conditions for each developmental stage and secured the differentiation steps. Specifically, we devised a medium adapted for the strenuous development of stable long-term BSF culture. Using Amaxa nucleofection technology, we greatly improved the transfection rate of the insect form and designed an inducible transgene expression system using the IL3000 reference strain. We tested it by expression of reporter genes and through RNAi. Subsequently, we achieved the complete in vitro life cycle with dramatically shortened time requirements for various wild type and transgenic strains. Finally, we established the use of modified strains for experimental infections and underlined a host adaptation phase requirement. CONCLUSIONS/SIGNIFICANCE: We devised an improved T. congolense model, which offers the opportunity to perform functional genomics analyses throughout the whole life

  8. Understanding of BRCA1/2 genetic tests results: the importance of objective and subjective numeracy.

    Science.gov (United States)

    Hanoch, Yaniv; Miron-Shatz, Talya; Rolison, Jonathan J; Ozanne, Elissa

    2014-10-01

    The majority of women (71%) who undergo BRCA1/2 testing-designed to identify genetic mutations associated with increased risk of cancer-receive results that are termed 'ambiguous' or 'uninformative negative'. How women interpret these results and the association with numerical ability was examined. In this study, 477 women at increased risk for breast and ovarian cancer were recruited via the Cancer Genetics Network. They were presented with information about the four different possible BRCA1/2 test results-positive, true negative, ambiguous and uninformative negative-and asked to indicate which of six options represents the best response. Participants were then asked which treatment options they thought a woman receiving the results should discuss with her doctor. Finally, participants completed measures of objective and subjective numeracy. Almost all of the participants correctly interpreted the positive and negative BRCA1/2 genetic test results. However, they encountered difficulties interpreting the uninformative and ambiguous BRCA1/2 genetic test results. Participants were almost equally likely to think either that the woman had learned nothing from the test result or that she was as likely to develop cancer as the average woman. Highly numerate participants were more likely to correctly interpret inconclusive test results (ambiguous, OR = 1.62; 95% CI [1.28, 2.07]; p psychological ramifications of genetic testing, healthcare professionals should consider devoting extra effort to ensuring proper comprehension of ambiguous and uninformative negative test results by women. Copyright © 2014 John Wiley & Sons, Ltd.

  9. Molecular genetics made simple

    Directory of Open Access Journals (Sweden)

    Heba Sh. Kassem

    2012-07-01

    Full Text Available Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.

  10. Molecular genetics made simple

    Science.gov (United States)

    Kassem, Heba Sh.; Girolami, Francesca; Sanoudou, Despina

    2012-01-01

    Abstract Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients. PMID:25610837

  11. Adults' perceptions of genetic counseling and genetic testing.

    Science.gov (United States)

    Houfek, Julia Fisco; Soltis-Vaughan, Brigette S; Atwood, Jan R; Reiser, Gwendolyn M; Schaefer, G Bradley

    2015-02-01

    This study described the perceptions of genetic counseling and testing of adults (N = 116) attending a genetic education program. Understanding perceptions of genetic counseling, including the importance of counseling topics, will contribute to patient-focused care as clinical genetic applications for common, complex disorders evolve. Participants completed a survey addressing: the importance of genetic counseling topics, benefits and negative effects of genetic testing, and sharing test results. Topics addressing practical information about genetic conditions were rated most important; topics involving conceptual genetic/genomic principles were rated least important. The most frequently identified benefit and negative effect of testing were prevention/early detection/treatment and psychological distress. Participants perceived that they were more likely to share test results with first-degree than other relatives. Findings suggest providing patients with practical information about genetic testing and genetic contributions to disease, while also determining whether their self-care abilities would be enhanced by teaching genetic/genomic principles. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. Measurement correction method for force sensor used in dynamic pressure calibration based on artificial neural network optimized by genetic algorithm

    Science.gov (United States)

    Gu, Tingwei; Kong, Deren; Shang, Fei; Chen, Jing

    2017-12-01

    We present an optimization algorithm to obtain low-uncertainty dynamic pressure measurements from a force-transducer-based device. In this paper, the advantages and disadvantages of the methods that are commonly used to measure the propellant powder gas pressure, the applicable scope of dynamic pressure calibration devices, and the shortcomings of the traditional comparison calibration method based on the drop-weight device are firstly analysed in detail. Then, a dynamic calibration method for measuring pressure using a force sensor based on a drop-weight device is introduced. This method can effectively save time when many pressure sensors are calibrated simultaneously and extend the life of expensive reference sensors. However, the force sensor is installed between the drop-weight and the hammerhead by transition pieces through the connection mode of bolt fastening, which causes adverse effects such as additional pretightening and inertia forces. To solve these effects, the influence mechanisms of the pretightening force, the inertia force and other influence factors on the force measurement are theoretically analysed. Then a measurement correction method for the force measurement is proposed based on an artificial neural network optimized by a genetic algorithm. The training and testing data sets are obtained from calibration tests, and the selection criteria for the key parameters of the correction model is discussed. The evaluation results for the test data show that the correction model can effectively improve the force measurement accuracy of the force sensor. Compared with the traditional high-accuracy comparison calibration method, the percentage difference of the impact-force-based measurement is less than 0.6% and the relative uncertainty of the corrected force value is 1.95%, which can meet the requirements of engineering applications.

  13. The correction of electron lens aberrations

    Energy Technology Data Exchange (ETDEWEB)

    Hawkes, P.W., E-mail: peter.hawkes@cemes.fr

    2015-09-15

    The progress of electron lens aberration correction from about 1990 onwards is chronicled. Reasonably complete lists of publications on this and related topics are appended. A present for Max Haider and Ondrej Krivanek in the year of their 65th birthdays. By a happy coincidence, this review was completed in the year that both Max Haider and Ondrej Krivanek reached the age of 65. It is a pleasure to dedicate it to the two leading actors in the saga of aberration corrector design and construction. They would both wish to associate their colleagues with such a tribute but it is the names of Haider and Krivanek (not forgetting Joachim Zach) that will remain in the annals of electron optics, next to that of Harald Rose. I am proud to know that both regard me as a friend as well as a colleague. - Highlights: • Geometrical aberration correction. • Chromatic aberration correction. • 50 pm resolution. • High-resolution electron energy-loss spectroscopy. • Extensive bibliographies.

  14. The correction of electron lens aberrations

    International Nuclear Information System (INIS)

    Hawkes, P.W.

    2015-01-01

    The progress of electron lens aberration correction from about 1990 onwards is chronicled. Reasonably complete lists of publications on this and related topics are appended. A present for Max Haider and Ondrej Krivanek in the year of their 65th birthdays. By a happy coincidence, this review was completed in the year that both Max Haider and Ondrej Krivanek reached the age of 65. It is a pleasure to dedicate it to the two leading actors in the saga of aberration corrector design and construction. They would both wish to associate their colleagues with such a tribute but it is the names of Haider and Krivanek (not forgetting Joachim Zach) that will remain in the annals of electron optics, next to that of Harald Rose. I am proud to know that both regard me as a friend as well as a colleague. - Highlights: • Geometrical aberration correction. • Chromatic aberration correction. • 50 pm resolution. • High-resolution electron energy-loss spectroscopy. • Extensive bibliographies

  15. Correction

    CERN Multimedia

    2002-01-01

    Tile Calorimeter modules stored at CERN. The larger modules belong to the Barrel, whereas the smaller ones are for the two Extended Barrels. (The article was about the completion of the 64 modules for one of the latter.) The photo on the first page of the Bulletin n°26/2002, from 24 July 2002, illustrating the article «The ATLAS Tile Calorimeter gets into shape» was published with a wrong caption. We would like to apologise for this mistake and so publish it again with the correct caption.

  16. Measuring genetic knowledge: a brief survey instrument for adolescents and adults.

    Science.gov (United States)

    Fitzgerald-Butt, S M; Bodine, A; Fry, K M; Ash, J; Zaidi, A N; Garg, V; Gerhardt, C A; McBride, K L

    2016-02-01

    Basic knowledge of genetics is essential for understanding genetic testing and counseling. The lack of a written, English language, validated, published measure has limited our ability to evaluate genetic knowledge of patients and families. Here, we begin the psychometric analysis of a true/false genetic knowledge measure. The 18-item measure was completed by parents of children with congenital heart defects (CHD) (n = 465) and adolescents and young adults with CHD (age: 15-25, n = 196) with a mean total correct score of 12.6 [standard deviation (SD) = 3.5, range: 0-18]. Utilizing exploratory factor analysis, we determined that one to three correlated factors, or abilities, were captured by our measure. Through confirmatory factor analysis, we determined that the two factor model was the best fit. Although it was necessary to remove two items, the remaining items exhibited adequate psychometric properties in a multidimensional item response theory analysis. Scores for each factor were computed, and a sum-score conversion table was derived. We conclude that this genetic knowledge measure discriminates best at low knowledge levels and is therefore well suited to determine a minimum adequate amount of genetic knowledge. However, further reliability testing and validation in diverse research and clinical settings is needed. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Non-genetic health professionals' attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer.

    Science.gov (United States)

    Douma, Kirsten F L; Smets, Ellen M A; Allain, Dawn C

    2016-04-01

    Non-genetic health professionals (NGHPs) have insufficient knowledge of cancer genetics, express educational needs and are unprepared to counsel their patients regarding their genetic test results. So far, it is unclear how NGHPs perceive their own communication skills. This study was undertaken to gain insight in their perceptions, attitudes and knowledge. Two publically accessible databases were used to invite NGHPs providing cancer genetic services to complete a questionnaire. The survey assessed: sociodemographic attributes, experience in ordering hereditary cancer genetic testing, attitude, knowledge, perception of communication skills (e.g. information giving, decision-making) and educational needs. Of all respondents (N = 49, response rate 11%), most have a positive view of their own information giving (mean = 53.91, range 13-65) and decision making skills (64-77% depending on topic). NGHPs feel responsible for enabling disease and treatment related behavior (89-91%). However, 20-30% reported difficulties managing patients' emotions and did not see management of long-term emotions as their responsibility. Correct answers on knowledge questions ranged between 41 and 96%. Higher knowledge was associated with more confidence in NGHPs' own communication skills (r(s) = .33, p = 0.03). Although NGHPs have a positive view of their communication skills, they perceive more difficulties managing emotions. The association between less confidence in communication skills and lower knowledge level suggests awareness of knowledge gaps affects confidence. NGHPs might benefit from education about managing client emotions. Further research using observation of actual counselling consultations is needed to investigate the skills of this specific group of providers.

  18. Electroweak corrections to H->ZZ/WW->4 leptons

    International Nuclear Information System (INIS)

    Bredenstein, A.; Denner, A.; Dittmaier, S.; Weber, M.M.

    2006-01-01

    We provide predictions for the decays H->ZZ->4-bar and H->WW->4-bar including the complete electroweak O(α) corrections and improvements by higher-order final-state radiation and two-loop corrections proportional to G μ 2 M H 4 . The gauge-boson resonances are described in the complex-mass scheme. We find corrections at the level of 1-8% for the partial widths

  19. Complete Fairness in Secure Two-Party Computation

    DEFF Research Database (Denmark)

    Gordon, S. Dov; Hazay, Carmit; Katz, Jonathan

    2011-01-01

    In the setting of secure two-party computation, two mutually distrusting parties wish to compute some function of their inputs while preserving, to the extent possible, various security properties such as privacy, correctness, and more. One desirable property is fairness which guarantees, informa...... for such functions must have round complexity super-logarithmic in the security parameter. Our results demonstrate that the question of completely fair secure computation without an honest majority is far from closed.......In the setting of secure two-party computation, two mutually distrusting parties wish to compute some function of their inputs while preserving, to the extent possible, various security properties such as privacy, correctness, and more. One desirable property is fairness which guarantees......-party setting. We demonstrate that this folklore belief is false by showing completely fair protocols for various nontrivial functions in the two-party setting based on standard cryptographic assumptions. We first show feasibility of obtaining complete fairness when computing any function over polynomial...

  20. Assessing population genetic structure via the maximisation of genetic distance

    Directory of Open Access Journals (Sweden)

    Toro Miguel A

    2009-11-01

    Full Text Available Abstract Background The inference of the hidden structure of a population is an essential issue in population genetics. Recently, several methods have been proposed to infer population structure in population genetics. Methods In this study, a new method to infer the number of clusters and to assign individuals to the inferred populations is proposed. This approach does not make any assumption on Hardy-Weinberg and linkage equilibrium. The implemented criterion is the maximisation (via a simulated annealing algorithm of the averaged genetic distance between a predefined number of clusters. The performance of this method is compared with two Bayesian approaches: STRUCTURE and BAPS, using simulated data and also a real human data set. Results The simulations show that with a reduced number of markers, BAPS overestimates the number of clusters and presents a reduced proportion of correct groupings. The accuracy of the new method is approximately the same as for STRUCTURE. Also, in Hardy-Weinberg and linkage disequilibrium cases, BAPS performs incorrectly. In these situations, STRUCTURE and the new method show an equivalent behaviour with respect to the number of inferred clusters, although the proportion of correct groupings is slightly better with the new method. Re-establishing equilibrium with the randomisation procedures improves the precision of the Bayesian approaches. All methods have a good precision for FST ≥ 0.03, but only STRUCTURE estimates the correct number of clusters for FST as low as 0.01. In situations with a high number of clusters or a more complex population structure, MGD performs better than STRUCTURE and BAPS. The results for a human data set analysed with the new method are congruent with the geographical regions previously found. Conclusion This new method used to infer the hidden structure in a population, based on the maximisation of the genetic distance and not taking into consideration any assumption about Hardy

  1. Corrective Action Decision Document (CADD), Area 12 fleet operations steam cleaning discharge area, Nevada Test Site Corrective Action Unit 339

    International Nuclear Information System (INIS)

    Bonn, J.F.

    1996-12-01

    This Corrective Action Decision Document (CADD) incorporates the methodology used for evaluating the remedial alternatives completed for a former steam cleaning discharge area at the Nevada Test Site (NTS). The former steam cleaning site is located in Area 12, east of the Fleet Operations Building 12-16. The discharge area has been impacted by Resource Conservation and Recovery Act (RCRA) F Listed volatile organic compounds (VOCs) and petroleum hydrocarbons waste. Based upon these findings, resulting from Phase 1 and Phase 2 site investigations, corrective action is required at the site. To determine the appropriate corrective action to be proposed, an evaluation of remedial alternatives was completed. The evaluation was completed using a Corrective Measures Study (CMS). Based on the results of the CMS, the favored closure alternative for the site is plugging the effluent discharge line, removing the sandbagged barrier, completing excavation of VOC impacted soils, and fencing the soil area impacted by total petroleum hydrocarbons (TPH), east of the discharge line and west of the soil berm. Management of the F Listed VOCs are dictated by RCRA. Due to the small volume of impacted soil, excavation and transportation to a Treatment Storage and Disposal Facility (TSDF) is the most practical method of management. It is anticipated that the TPH (as oil) impacted soils will remain in place based upon; the A through K Analysis, concentrations detected (maximum 8,600 milligrams per kilogram), expected natural degradation of the hydrocarbons over time, and the findings of the Phase 2 Investigation that vertical migration has been minimal

  2. Corrective Action Decision Document (CADD), Area 12 fleet operations steam cleaning discharge area, Nevada Test Site Corrective Action Unit 339

    Energy Technology Data Exchange (ETDEWEB)

    Bonn, J.F.

    1996-12-01

    This Corrective Action Decision Document (CADD) incorporates the methodology used for evaluating the remedial alternatives completed for a former steam cleaning discharge area at the Nevada Test Site (NTS). The former steam cleaning site is located in Area 12, east of the Fleet Operations Building 12-16. The discharge area has been impacted by Resource Conservation and Recovery Act (RCRA) F Listed volatile organic compounds (VOCs) and petroleum hydrocarbons waste. Based upon these findings, resulting from Phase 1 and Phase 2 site investigations, corrective action is required at the site. To determine the appropriate corrective action to be proposed, an evaluation of remedial alternatives was completed. The evaluation was completed using a Corrective Measures Study (CMS). Based on the results of the CMS, the favored closure alternative for the site is plugging the effluent discharge line, removing the sandbagged barrier, completing excavation of VOC impacted soils, and fencing the soil area impacted by total petroleum hydrocarbons (TPH), east of the discharge line and west of the soil berm. Management of the F Listed VOCs are dictated by RCRA. Due to the small volume of impacted soil, excavation and transportation to a Treatment Storage and Disposal Facility (TSDF) is the most practical method of management. It is anticipated that the TPH (as oil) impacted soils will remain in place based upon; the A through K Analysis, concentrations detected (maximum 8,600 milligrams per kilogram), expected natural degradation of the hydrocarbons over time, and the findings of the Phase 2 Investigation that vertical migration has been minimal.

  3. Arbitrariness is not enough: towards a functional approach to the genetic code.

    Science.gov (United States)

    Lacková, Ľudmila; Matlach, Vladimír; Faltýnek, Dan

    2017-12-01

    Arbitrariness in the genetic code is one of the main reasons for a linguistic approach to molecular biology: the genetic code is usually understood as an arbitrary relation between amino acids and nucleobases. However, from a semiotic point of view, arbitrariness should not be the only condition for definition of a code, consequently it is not completely correct to talk about "code" in this case. Yet we suppose that there exist a code in the process of protein synthesis, but on a higher level than the nucleic bases chains. Semiotically, a code should be always associated with a function and we propose to define the genetic code not only relationally (in basis of relation between nucleobases and amino acids) but also in terms of function (function of a protein as meaning of the code). Even if the functional definition of meaning in the genetic code has been discussed in the field of biosemiotics, its further implications have not been considered. In fact, if the function of a protein represents the meaning of the genetic code (the sign's object), then it is crucial to reconsider the notion of its expression (the sign) as well. In our contribution, we will show that the actual model of the genetic code is not the only possible and we will propose a more appropriate model from a semiotic point of view.

  4. Feline genetics: clinical applications and genetic testing.

    Science.gov (United States)

    Lyons, Leslie A

    2010-11-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome. Copyright © 2010 Elsevier Inc. All rights reserved.

  5. Unitary Application of the Quantum Error Correction Codes

    International Nuclear Information System (INIS)

    You Bo; Xu Ke; Wu Xiaohua

    2012-01-01

    For applying the perfect code to transmit quantum information over a noise channel, the standard protocol contains four steps: the encoding, the noise channel, the error-correction operation, and the decoding. In present work, we show that this protocol can be simplified. The error-correction operation is not necessary if the decoding is realized by the so-called complete unitary transformation. We also offer a quantum circuit, which can correct the arbitrary single-qubit errors.

  6. Iterative optimization of quantum error correcting codes

    International Nuclear Information System (INIS)

    Reimpell, M.; Werner, R.F.

    2005-01-01

    We introduce a convergent iterative algorithm for finding the optimal coding and decoding operations for an arbitrary noisy quantum channel. This algorithm does not require any error syndrome to be corrected completely, and hence also finds codes outside the usual Knill-Laflamme definition of error correcting codes. The iteration is shown to improve the figure of merit 'channel fidelity' in every step

  7. Closure report for housekeeping category, Corrective Action Unit 348, Nevada Test Site

    International Nuclear Information System (INIS)

    1998-01-01

    This Closure Report summarizes the corrective actions which were completed at twelve Corrective Action Sites within Corrective Action Unit 348 at the Nevada Test Site. Current site descriptions, observations and identification of wastes removed are included on FFACO Corrective Action Site housekeeping closure verification forms

  8. Closure report for housekeeping category, Corrective Action Unit 347, Nevada Test Site

    International Nuclear Information System (INIS)

    1998-01-01

    This Closure Report summarizes the corrective actions which were completed at the Corrective Action Sites within Corrective Action Unit 347 at the Nevada Test Site. Current site descriptions, observations and identification of wastes removed are included on FFACO Corrective Action Site housekeeping closure verification forms

  9. Completion Report for Well ER-2-2 Corrective Action Unit 97: Yucca Flat/Climax Mine, Revision 1

    Energy Technology Data Exchange (ETDEWEB)

    Wurtz, Jeffrey [Navarro, Las Vegas, NV (United States)

    2017-05-01

    Well ER-2-2 was drilled for the U.S. Department of Energy, Nevada National Security Administration Nevada Field Office in support of the Underground Test Area (UGTA) Activity. The well was drilled from January 17 to February 8, 2016, as part of the Corrective Action Investigation Plan (CAIP) for Corrective Action Unit 97: Yucca Flat/Climax Mine, Nevada Test Site, Nevada. The primary purpose of the well was to collect hydrogeologic data to evaluate uncertainty in the flow and transport conceptual model and its contamination boundary forecasts, and to detect radionuclides in groundwater from the CALABASH (U2av) underground test. Well ER-2-2 was not completed as planned due to borehole stability problems. As completed, the well includes a piezometer (p1) to 582 meters (m) (1,909 feet [ft]) below ground surface (bgs) installed in the Timber Mountain lower vitric-tuff aquifer (TMLVTA) and a 12.25-inch (in.) diameter open borehole to 836 m (2,743 ft) bgs in the Lower tuff confining unit (LTCU). A 13.375-in. diameter carbon-steel casing is installed from the surface to a depth of 607 m (1,990 ft) bgs. Data collected during borehole construction include composite drill cutting samples collected every 3.0 m (10 ft), geophysical logs to a depth of 672.4 m (2,206 ft) bgs, water-quality measurements (including tritium), water-level measurements, and slug test data. The well penetrated 384.05 m (1,260 ft) of Quaternary alluvium, 541.93 m (1,778 ft) of Tertiary Volcanics (Tv) rocks, and 127.71 m (419 ft) of Paleozoic carbonates. The stratigraphy and lithology were generally as expected. However, several of the stratigraphic units were significantly thicker then predicted—principally, the Tunnel formation (Tn), which had been predicted to be 30 m (100 ft) thick; the actual thickness of this unit was 268.22 m (880 ft). Fluid depths were measured in the borehole during drilling as follows: (1) in the piezometer (p1) at 552.15 m (1,811.53 ft) bgs and (2) in the main casing (m1) at

  10. Corrective Action Decision Document/Corrective Action Plan for Corrective Action Unit 97: Yucca Flat/Climax Mine Nevada National Security Site, Nevada, Revision 1

    Energy Technology Data Exchange (ETDEWEB)

    Farnham, Irene [Navarro, Las Vegas, NV (United States)

    2017-08-01

    This corrective action decision document (CADD)/corrective action plan (CAP) has been prepared for Corrective Action Unit (CAU) 97, Yucca Flat/Climax Mine, Nevada National Security Site (NNSS), Nevada. The Yucca Flat/Climax Mine CAU is located in the northeastern portion of the NNSS and comprises 720 corrective action sites. A total of 747 underground nuclear detonations took place within this CAU between 1957 and 1992 and resulted in the release of radionuclides (RNs) in the subsurface in the vicinity of the test cavities. The CADD portion describes the Yucca Flat/Climax Mine CAU data-collection and modeling activities completed during the corrective action investigation (CAI) stage, presents the corrective action objectives, and describes the actions recommended to meet the objectives. The CAP portion describes the corrective action implementation plan. The CAP presents CAU regulatory boundary objectives and initial use-restriction boundaries identified and negotiated by DOE and the Nevada Division of Environmental Protection (NDEP). The CAP also presents the model evaluation process designed to build confidence that the groundwater flow and contaminant transport modeling results can be used for the regulatory decisions required for CAU closure. The UGTA strategy assumes that active remediation of subsurface RN contamination is not feasible with current technology. As a result, the corrective action is based on a combination of characterization and modeling studies, monitoring, and institutional controls. The strategy is implemented through a four-stage approach that comprises the following: (1) corrective action investigation plan (CAIP), (2) CAI, (3) CADD/CAP, and (4) closure report (CR) stages.

  11. Entropic corrections to Newton's law

    International Nuclear Information System (INIS)

    Setare, M R; Momeni, D; Myrzakulov, R

    2012-01-01

    In this short paper, we calculate separately the generalized uncertainty principle (GUP) and self-gravitational corrections to Newton's gravitational formula. We show that for a complete description of the GUP and self-gravity effects, both the temperature and entropy must be modified. (paper)

  12. Spurious correlations and inference in landscape genetics

    Science.gov (United States)

    Samuel A. Cushman; Erin L. Landguth

    2010-01-01

    Reliable interpretation of landscape genetic analyses depends on statistical methods that have high power to identify the correct process driving gene flow while rejecting incorrect alternative hypotheses. Little is known about statistical power and inference in individual-based landscape genetics. Our objective was to evaluate the power of causalmodelling with partial...

  13. Mueller Navelet jets at LHC - complete NLL BFKL calculation

    Energy Technology Data Exchange (ETDEWEB)

    Colferai, Dimitri [Firenze Univ. (Italy). Dipt. di Fisica; INFN, Florence (Italy); Schwennsen, Florian [Deutsches Elektronen-Synchrotron (DESY), Hamburg (Germany); Szymanowski, Lech [Soltan Inst. for Nuclear Studies, Warsaw (Poland); Ecole Polytechnique, CNRS, Palaiseau (France). CPHT; Wallon, Samuel [Paris-Sud Univ., CNRS, Orsay (France). LPT; UPMC Univ. Paris 06 (France). Faculte de Physique

    2010-03-15

    We calculate cross section and azimuthal decorrelation of Mueller Navelet jets at the LHC in the complete next-lo-leading order BFKL framework, i.e. including next-to-leading corrections to the Green's function as well as next-to-leading corrections to the Mueller Navelet vertices. The obtained results for standard observables proposed for studies of Mueller Navelet jets show that both sources of corrections are of equal, big importance for final magnitude and final behavior of observables. The astonishing conclusion of our analysis is that the observables obtained within the complete next-lo-leading order BFKL framework of the present paper are quite similar to the same observables obtained within next-to-leading logarithm DGLAP type treatment. This fact sheds doubts on general belief that the studies of Mueller Navelet jets at the LHC will lead to clear discrimination between the BFKL and the DGLAP dynamics. (orig.)

  14. Mueller Navelet jets at LHC - complete NLL BFKL calculation

    International Nuclear Information System (INIS)

    Colferai, Dimitri; Schwennsen, Florian; Szymanowski, Lech; Ecole Polytechnique, CNRS, Palaiseau; Wallon, Samuel; UPMC Univ. Paris 06

    2010-03-01

    We calculate cross section and azimuthal decorrelation of Mueller Navelet jets at the LHC in the complete next-lo-leading order BFKL framework, i.e. including next-to-leading corrections to the Green's function as well as next-to-leading corrections to the Mueller Navelet vertices. The obtained results for standard observables proposed for studies of Mueller Navelet jets show that both sources of corrections are of equal, big importance for final magnitude and final behavior of observables. The astonishing conclusion of our analysis is that the observables obtained within the complete next-lo-leading order BFKL framework of the present paper are quite similar to the same observables obtained within next-to-leading logarithm DGLAP type treatment. This fact sheds doubts on general belief that the studies of Mueller Navelet jets at the LHC will lead to clear discrimination between the BFKL and the DGLAP dynamics. (orig.)

  15. Communicating the risks and benefits of genetically engineered food products to the public: The view of experts from four European countries

    OpenAIRE

    Scholderer, Joachim; Balderjahn, Ingo; Will, Simone

    1998-01-01

    Executive summary 1. Previous research on the risks and benefits of genetically engineered food products has not accounted for risk communication issues. The introductory part of this paper develops a more comprehensive model. Risks and benefits enter the model as the input of a risk communication process. The relevant actors transfer the raw information into a series of messages, subjecting it to varying degrees of correctness, completeness, comprehensibility, and (although less deliberately...

  16. Overdispersion in allelic counts and θ-correction in forensic genetics

    DEFF Research Database (Denmark)

    Tvedebrink, Torben

    2009-01-01

    A statistical model for incorporating the extra variability in allelic counts due to subpopulation structures is presented. In forensic genetics, this effect is modelled by the identical-by-decent-parameter, θ . It is shown, that θ may be defined as an overdispersion parameter capturing the extra...

  17. Correction of acid beta-galactosidase deficiency in GM1 gangliosidosis human fibroblasts by retrovirus vector-mediated gene transfer: higher efficiency of release and cross-correction by the murine enzyme.

    Science.gov (United States)

    Sena-Esteves, M; Camp, S M; Alroy, J; Breakefield, X O; Kaye, E M

    2000-03-20

    Mutations in the lysosomal acid beta-galactosidase (EC 3.2.1.23) underlie two different disorders: GM1 gangliosidosis, which involves the nervous system and visceral organs to varying extents, and Morquio's syndrome type B (Morquio B disease), which is a skeletal-connective tissue disease without any CNS symptoms. This article shows that transduction of human GM1 gangliosidosis fibroblasts with retrovirus vectors encoding the human acid beta-galactosidase cDNA leads to complete correction of the enzymatic deficiency. The newly synthesized enzyme is correctly processed and targeted to the lysosomes in transduced cells. Cross-correction experiments using retrovirus-modified cells as enzyme donors showed, however, that the human enzyme is transferred at low efficiencies. Experiments using a different retrovirus vector carrying the human cDNA confirmed this observation. Transduction of human GM1 fibroblasts and mouse NIH 3T3 cells with a retrovirus vector encoding the mouse beta-galactosidase cDNA resulted in high levels of enzymatic activity. Furthermore, the mouse enzyme was found to be transferred to human cells at high efficiency. Enzyme activity measurements in medium conditioned by genetically modified cells suggest that the human beta-galactosidase enzyme is less efficiently released to the extracellular space than its mouse counterpart. This study suggests that lysosomal enzymes, contrary to the generalized perception in the field of gene therapy, may differ significantly in their properties and provides insights for design of future gene therapy interventions in acid beta-galactosidase deficiency.

  18. Marketing genetic tests: empowerment or snake oil?

    Science.gov (United States)

    Bowen, Deborah J; Battuello, Kathryn M; Raats, Monique

    2005-10-01

    Genetic tests are currently being offered to the general public with little oversight and regulation as to which tests are allowed to be sold clinically and little control over the marketing and promotion of sales and use. This article provides discussion and data to indicate that the general public holds high opinions of genetic testing and that current media outlets for public education on genetic testing are not adequate to increase accurate knowledge of genetics. The authors argue that more regulation is needed to control and correct this problem in the United States.

  19. Correction of anemia in uremic mice by genetically modified peritoneal mesothelial cells.

    Science.gov (United States)

    Einbinder, Tom; Sufaro, Yuval; Yusim, Igor; Byk, Gerardo; Passlick-Deetjen, Jutta; Chaimovitz, Cidio; Douvdevani, Amos

    2003-06-01

    During peritoneal dialysis, mesothelial cells become detached from the peritoneum and accumulate in the dialysate. Our aim was to evaluate the potential of peritoneal effluent (PF)-derived human peritoneal mesothelial cells (HPMC) as target for gene therapy. We used erythropoietin (EPO) as our target gene. Various extracellular matrixes (ECM) were tested for optimal adhesion and growth of HPMC. The EPO gene was introduced to mouse peritoneal mesothelial cells (MPMC) and HPMC by transfection or retroviral transduction. EPO secretion from PMC was measured by enzyme-linked immunosorbent assay (ELISA) and by the TF-1 cell proliferation assay. We performed intraperitoneal or intramuscular transplantations of the genetically modified cells into regular or 5/6 nephrectomized Balb/c mice and nude mice. Finally, we measured serum EPO and hematocrit levels. ECM-coated plates provided up to sixfold increase in the efficiency of PMC isolation from PF. Gelatin coated dishes (20 microg/cm2) were found optimal for isolation of PF-HPMC. RPR-120535 liposome was found to be best for PMC transduction. In vitro studies showed EPO secretion from modified HPMC over 6 months. Intraperitoneal transplantation aided with collagen matrix was the most effective. EPO, in MPMC transplanted mice, was detected up to 3 weeks (peak at 13 +/- 1 mIU/mL), and anemia of uremic mice was corrected (35.3 +/- 0.9 mIU/mL to 41.9 +/- 1.1 mIU/mL). PF-HPMC can be considered as an appropriate target for gene therapy since these cells can be efficiently isolated, modified, and transplanted. Nevertheless, implantation techniques in the peritoneum should be directed at obtaining longer duration of transgene expression in vivo, and means should be developed for enabling regulated expression of the gene.

  20. Completion Report for Well ER-16-1 Corrective Action Unit 99: Rainier Mesa - Shoshone Mountain

    Energy Technology Data Exchange (ETDEWEB)

    NSTec Environmental Management

    2006-12-01

    Well ER-16-1 was drilled for the U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office, in support of the Nevada Environmental Restoration Project at the Nevada Test Site, Nye County, Nevada. The well was drilled in June and July 2005 as part of a hydrogeologic investigation program for the Rainier Mesa-Shoshone Mountain Corrective Action Unit, Number 99. The overall purpose of the well was to gather subsurface data to better characterize the hydrogeology of the Shoshone Mountain area, especially in the older Tertiary and pre-Tertiary strata. The main 46.99-centimeter hole was drilled to a depth of 702.9 meters and cased with 33.97-centimeter casing to 663.7 meters. The hole diameter was then decreased to 31.1 centimeters, and the well was drilled to total depth of 1,220.7 meters. A completion string set at the depth of 1,162.4 meters consisted of 13.97-centimeter stainless-steel casing, with one continuous slotted interval open to the lower carbonate aquifer. The fluid level in the borehole soon dropped, so the borehole was deepened in July 2006. To deepen the borehole, the slotted section was cemented and a 12.1-centimeter hole was drilled through the bottom of the completion string to the new total depth of 1,391.7 meters, which is 171.0 meters deeper than the original borehole. A string of 6.03-centimeter carbon-steel tubing with one continuous slotted interval at 1,361.8 to 1,381.4 meters, and open to the lower carbonate aquifer, was installed in the well with no gravel packing or cement, to serve as a monitoring string. Data gathered during and shortly after hole construction include composite drill cuttings samples collected every 3 meters (extra cuttings samples were collected from the Paleozoic rocks for paleontological analyses), sidewall core samples from 37 depths, various geophysical logs, and water level measurements. These data indicate that the well penetrated 646.8 meters of Tertiary volcanic rocks and 744.9 meters

  1. Geometry correction Algorithm for UAV Remote Sensing Image Based on Improved Neural Network

    Science.gov (United States)

    Liu, Ruian; Liu, Nan; Zeng, Beibei; Chen, Tingting; Yin, Ninghao

    2018-03-01

    Aiming at the disadvantage of current geometry correction algorithm for UAV remote sensing image, a new algorithm is proposed. Adaptive genetic algorithm (AGA) and RBF neural network are introduced into this algorithm. And combined with the geometry correction principle for UAV remote sensing image, the algorithm and solving steps of AGA-RBF are presented in order to realize geometry correction for UAV remote sensing. The correction accuracy and operational efficiency is improved through optimizing the structure and connection weight of RBF neural network separately with AGA and LMS algorithm. Finally, experiments show that AGA-RBF algorithm has the advantages of high correction accuracy, high running rate and strong generalization ability.

  2. Bio-Inspired Genetic Algorithms with Formalized Crossover Operators for Robotic Applications.

    Science.gov (United States)

    Zhang, Jie; Kang, Man; Li, Xiaojuan; Liu, Geng-Yang

    2017-01-01

    Genetic algorithms are widely adopted to solve optimization problems in robotic applications. In such safety-critical systems, it is vitally important to formally prove the correctness when genetic algorithms are applied. This paper focuses on formal modeling of crossover operations that are one of most important operations in genetic algorithms. Specially, we for the first time formalize crossover operations with higher-order logic based on HOL4 that is easy to be deployed with its user-friendly programing environment. With correctness-guaranteed formalized crossover operations, we can safely apply them in robotic applications. We implement our technique to solve a path planning problem using a genetic algorithm with our formalized crossover operations, and the results show the effectiveness of our technique.

  3. One-Step Biallelic and Scarless Correction of a β-Thalassemia Mutation in Patient-Specific iPSCs without Drug Selection

    Directory of Open Access Journals (Sweden)

    Yali Liu

    2017-03-01

    Full Text Available Monogenic disorders (MGDs, which are caused by single gene mutations, have a serious effect on human health. Among these, β-thalassemia (β-thal represents one of the most common hereditary hematological diseases caused by mutations in the human hemoglobin β (HBB gene. The technologies of induced pluripotent stem cells (iPSCs and genetic correction provide insights into the treatments for MGDs, including β-thal. However, traditional approaches for correcting mutations have a low efficiency and leave a residual footprint, which leads to some safety concerns in clinical applications. As a proof of concept, we utilized single-strand oligodeoxynucleotides (ssODNs, high-fidelity CRISPR/Cas9 nuclease, and small molecules to achieve a seamless correction of the β-41/42 (TCTT deletion mutation in β thalassemia patient-specific iPSCs with remarkable efficiency. Additionally, off-target analysis and whole-exome sequencing results revealed that corrected cells exhibited a minimal mutational load and no off-target mutagenesis. When differentiated into hematopoietic progenitor cells (HPCs and then further to erythroblasts, the genetically corrected cells expressed normal β-globin transcripts. Our studies provide the most efficient and safe approach for the genetic correction of the β-41/42 (TCTT deletion in iPSCs for further potential cell therapy of β-thal, which represents a potential therapeutic avenue for the gene correction of MGD-associated mutants in patient-specific iPSCs.

  4. Clinical and genetic characterization of 6 cases with complete ...

    Indian Academy of Sciences (India)

    Navya

    2016-12-16

    Dec 16, 2016 ... secondary sex characters (partial AIS) to a complete AIS (CAIS) (Ferlin et al., 2006;. Zuccarello et al., 2008). ... The physical examination and the .... 2004 Residual activity of mutant androgen receptors explains wolffian duct.

  5. Quantitative Genetics Identifies Cryptic Genetic Variation Involved in the Paternal Regulation of Seed Development

    NARCIS (Netherlands)

    Pires, Nuno D.; Bemer, Marian; Müller, Lena M.; Baroux, Célia; Spillane, Charles; Grossniklaus, Ueli

    2016-01-01

    Embryonic development requires a correct balancing of maternal and paternal genetic information. This balance is mediated by genomic imprinting, an epigenetic mechanism that leads to parent-of-origin-dependent gene expression. The parental conflict (or kinship) theory proposes that imprinting can

  6. Corrective Action Plan for Corrective Action Unit 562: Waste Systems, Nevada National Security Site, Nevada

    International Nuclear Information System (INIS)

    2011-01-01

    This Corrective Action Plan has been prepared for Corrective Action Unit (CAU) 562, Waste Systems, in accordance with the Federal Facility Agreement and Consent Order (1996; as amended March 2010). CAU 562 consists of 13 Corrective Action Sites (CASs) located in Areas 2, 23, and 25 of the Nevada National Security Site. Site characterization activities were performed in 2009 and 2010, and the results are presented in Appendix A of the Corrective Action Decision Document for CAU 562. The scope of work required to implement the recommended closure alternatives is summarized. (1) CAS 02-26-11, Lead Shot, will be clean closed by removing shot. (2) CAS 02-44-02, Paint Spills and French Drain, will be clean closed by removing paint and contaminated soil. As a best management practice (BMP), asbestos tile will be removed. (3) CAS 02-59-01, Septic System, will be clean closed by removing septic tank contents. As a BMP, the septic tank will be removed. (4) CAS 02-60-01, Concrete Drain, contains no contaminants of concern (COCs) above action levels. No further action is required; however, as a BMP, the concrete drain will be removed. (5) CAS 02-60-02, French Drain, was clean closed. Corrective actions were completed during corrective action investigation activities. As a BMP, the drain grates and drain pipe will be removed. (6) CAS 02-60-03, Steam Cleaning Drain, will be clean closed by removing contaminated soil. As a BMP, the steam cleaning sump grate and outfall pipe will be removed. (7) CAS 02-60-04, French Drain, was clean closed. Corrective actions were completed during corrective action investigation activities. (8) CAS 02-60-05, French Drain, will be clean closed by removing contaminated soil. (9) CAS 02-60-06, French Drain, contains no COCs above action levels. No further action is required. (10) CAS 02-60-07, French Drain, requires no further action. The french drain identified in historical documentation was not located during corrective action investigation

  7. On Gene Concepts and Teaching Genetics: Episodes from Classical Genetics

    Science.gov (United States)

    Burian, Richard M.

    2013-02-01

    This paper addresses the teaching of advanced high school courses or undergraduate courses for non-biology majors about genetics or history of genetics. It will probably be difficult to take the approach described here in a high school science course, although the general approach could help improve such courses. It would be ideal for a college course in history of genetics or a course designed to teach non-science majors how science works or the rudiments of the genetics in a way that will help them as citizens. The approach aims to teach the processes of discovery, correction, and validation by utilizing illustrative episodes from the history of genetics. The episodes are treated in way that should foster understanding of basic questions about genes, the sorts of techniques used to answer questions about the constitution and structure of genes, how they function, and what they determine, and some of the major biological disagreements that arose in dealing with these questions. The material covered here could be connected to social and political issues raised by genetics, but these connections are not surveyed here. As it is, to cover this much territory, the article is limited to four major episodes from Mendel's paper to the beginning of World War II. A sequel will deal with the molecularization of genetics and with molecular gene concepts through the Human Genome Project.

  8. Error-correction coding

    Science.gov (United States)

    Hinds, Erold W. (Principal Investigator)

    1996-01-01

    This report describes the progress made towards the completion of a specific task on error-correcting coding. The proposed research consisted of investigating the use of modulation block codes as the inner code of a concatenated coding system in order to improve the overall space link communications performance. The study proposed to identify and analyze candidate codes that will complement the performance of the overall coding system which uses the interleaved RS (255,223) code as the outer code.

  9. Continuous-variable quantum erasure correcting code

    DEFF Research Database (Denmark)

    Lassen, Mikael Østergaard; Sabuncu, Metin; Huck, Alexander

    2010-01-01

    We experimentally demonstrate a continuous variable quantum erasure-correcting code, which protects coherent states of light against complete erasure. The scheme encodes two coherent states into a bi-party entangled state, and the resulting 4-mode code is conveyed through 4 independent channels...

  10. Completion Report for Well ER-4-1 Corrective Action Unit 97: Yucca Flat/Climax Mine, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Wurtz, Jeffrey [Navarro, Las Vegas, NV (United States); Rehfeldt, Ken [Navarro, Las Vegas, NV (United States)

    2017-07-01

    Well ER-4-1 was drilled for the U.S. Department of Energy, Nevada National Security Administration Nevada Field Office in support of the Underground Test Area (UGTA) Activity. The well was drilled and completed from March 23 to April 13, 2016, as part of the Corrective Action Investigation Plan (CAIP) for Yucca Flat/Climax Mine Corrective Action Unit (CAU) 97. The primary purpose of the well was to collect hydrogeologic data to assist in validating concepts of the groundwater flow system within the Yucca Flat/Climax Mine CAU, and to test for potential radionuclides in groundwater from the STRAIT (U4a) underground test. The completed well includes one piezometer (p1), to a depth of 663.16 meters (m) (2,175.71 feet [ft]) below ground surface (bgs) and open from the Alluvial aquifer (AA3) to the Oak Spring Butte confining unit (OSBCU) hydrostratigraphic units; and a main completion (m1), which includes 6.625-inch (in.) casing with slotted interval (m1) installed to 906.80 m (2,975.05 ft) bgs in the Lower carbonate aquifer (LCA). A 13.375-in. diameter surface casing was installed from the surface to a depth of 809.00 m (2,654.21 ft) bgs. Well ER-4-1 experienced a number of technical issues during drilling, including borehole instability and sloughing conditions. An intermediate, 10.75-in./9.625-in. casing string was installed to 856.94 m (2,811.48 ft) bgs to control these issues. Borehole stability and erosion problems appear to be associated with the Tunnel Formation (Tn) and the Older tunnel beds (Ton). Overall efforts to stabilize the borehole were successful. Data collected during borehole construction include composite drill cutting samples collected every 3.0 m (10 ft), a partial suite of geophysical logs to a maximum depth of 766.57 m (2,515 ft) bgs, water-quality measurements (including tritium), water-level measurements, and two depth-discrete bailer samples collected at 538.89 m and 646.18 m (1,768 ft and 2,120 ft) bgs respectively. The well penetrated 187

  11. Complete genome sequences of two avian infectious bronchitis viruses isolated in Egypt: Evidence for genetic drift and genetic recombination in the circulating viruses.

    Science.gov (United States)

    Abozeid, Hassanein H; Paldurai, Anandan; Khattar, Sunil K; Afifi, Manal A; El-Kady, Magdy F; El-Deeb, Ayman H; Samal, Siba K

    2017-09-01

    Avian infectious bronchitis virus (IBV) is highly prevalent in chicken populations and is responsible for severe economic losses to poultry industry worldwide. In this study, we report the complete genome sequences of two IBV field strains, CU/1/2014 and CU/4/2014, isolated from vaccinated chickens in Egypt in 2014. The genome lengths of the strains CU/1/2014 and CU/4/2014 were 27,615 and 27,637 nucleotides, respectively. Both strains have a common genome organization in the order of 5'-UTR-1a-1b-S-3a-3b-E-M-4b-4c-5a-5b-N-6b-UTR-poly(A) tail-3'. Interestingly, strain CU/1/2014 showed a novel 15-nt deletion in the 4b-4c gene junction region. Phylogenetic analysis of the full S1 genes showed that the strains CU/1/2014 and CU/4/2014 belonged to IBV genotypes GI-1 lineage and GI-23 lineage, respectively. The genome of strain CU/1/2014 is closely related to vaccine strain H120 but showed genome-wide point mutations that lead to 27, 14, 11, 1, 1, 2, 2, and 2 amino acid differences between the two strains in 1a, 1b, S, 3a, M, 4b, 4c, and N proteins, respectively, suggesting that strain CU/1/2014 is probably a revertant of the vaccine strain H120 and evolved by accumulation of point mutations. Recombination analysis of strain CU/4/2014 showed evidence for recombination from at least three different IBV strains, namely, the Italian strain 90254/2005 (QX-like strain), 4/91, and H120. These results indicate the continuing evolution of IBV field strains by genetic drift and by genetic recombination leading to outbreaks in the vaccinated chicken populations in Egypt. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. International regulatory landscape and integration of corrective genome editing into in vitro fertilization.

    Science.gov (United States)

    Araki, Motoko; Ishii, Tetsuya

    2014-11-24

    Genome editing technology, including zinc finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), and clustered regularly interspaced short palindromic repeat (CRISPR)/Cas, has enabled far more efficient genetic engineering even in non-human primates. This biotechnology is more likely to develop into medicine for preventing a genetic disease if corrective genome editing is integrated into assisted reproductive technology, represented by in vitro fertilization. Although rapid advances in genome editing are expected to make germline gene correction feasible in a clinical setting, there are many issues that still need to be addressed before this could occur. We herein examine current status of genome editing in mammalian embryonic stem cells and zygotes and discuss potential issues in the international regulatory landscape regarding human germline gene modification. Moreover, we address some ethical and social issues that would be raised when each country considers whether genome editing-mediated germline gene correction for preventive medicine should be permitted.

  13. Three-loop massive form factors: complete light-fermion corrections for the vector current

    Science.gov (United States)

    Lee, Roman N.; Smirnov, Alexander V.; Smirnov, Vladimir A.; Steinhauser, Matthias

    2018-03-01

    We compute the three-loop QCD corrections to the massive quark-anti-quark-photon form factors F 1 and F 2 involving a closed loop of massless fermions. This subset is gauge invariant and contains both planar and non-planar contributions. We perform the reduction using FIRE and compute the master integrals with the help of differential equations. Our analytic results can be expressed in terms of Goncharov polylogarithms. We provide analytic results for all master integrals which are not present in the large- N c calculation considered in refs. [1, 2].

  14. Complete Surface Mapping of ICF Shells

    International Nuclear Information System (INIS)

    Stephens, R.B.; Olson, D.; Huang, H.; Gibson, J.B.

    2004-01-01

    Inertial confinement fusion shells have previously been evaluated on the basis of microscopic examination for local defects and limited surface profiling to represent their average fluctuation power. Since defects are local, and don't always have visible edges, this approach both misses some important fluctuations and doesn't properly represent the spatially dependent surface fluctuation power. We have taken the first step toward correcting this problem by demonstrating the capability to completely map the surface of a NIF shell with the resolution to account for all modes. This allows complete accounting of all the surface fluctuations. In the future this capability could be used for valuable shells to generate a complete r(θ, φ) surface map for accurate 3-D modeling of a shot

  15. COMPLETE SURFACE MAPPING OF ICF SHELLS

    International Nuclear Information System (INIS)

    STEPHENS, R.B.; OLSON, D.; HUANG, H.; GIBSON, J.B.

    2003-09-01

    OAK-B135 Inertial confinement fusion shells have previously been evaluated on the basis of microscopic examination for local defects and limited surface profiling to represent their average fluctuation power. Since defects are local, and don't always have visible edges, this approach both misses some important fluctuations and doesn't properly represent the spatially dependent surface fluctuation power. they have taken the first step toward correcting this problem by demonstrating the capability to completely map the surface of a NIF shell with the resolution to account for all modes. This allows complete accounting of all the surface fluctuations. In the future this capability could be used for valuable shells to generate a complete r(θ,ψ) surface map for accurate 3-D modeling of a shot

  16. Corrective Action Decision Document/Closure Report for Corrective Action Unit 567: Miscellaneous Soil Sites - Nevada National Security Site, Nevada

    Energy Technology Data Exchange (ETDEWEB)

    Matthews, Patrick [Navarro-Intera, LLC (N-I), Las Vegas, NV (United States)

    2014-12-01

    This Corrective Action Decision Document/Closure Report presents information supporting the closure of Corrective Action Unit (CAU) 567: Miscellaneous Soil Sites, Nevada National Security Site, Nevada. The purpose of this Corrective Action Decision Document/Closure Report is to provide justification and documentation supporting the recommendation that no further corrective action is needed for CAU 567 based on the implementation of the corrective actions. The corrective actions implemented at CAU 567 were developed based on an evaluation of analytical data from the CAI, the assumed presence of COCs at specific locations, and the detailed and comparative analysis of the CAAs. The CAAs were selected on technical merit focusing on performance, reliability, feasibility, safety, and cost. The implemented corrective actions meet all requirements for the technical components evaluated. The CAAs meet all applicable federal and state regulations for closure of the site. Based on the implementation of these corrective actions, the DOE, National Nuclear Security Administration Nevada Field Office provides the following recommendations: • No further corrective actions are necessary for CAU 567. • The Nevada Division of Environmental Protection issue a Notice of Completion to the DOE, National Nuclear Security Administration Nevada Field Office for closure of CAU 567. • CAU 567 be moved from Appendix III to Appendix IV of the FFACO.

  17. Completion Report for Model Evaluation Well ER-5-5: Corrective Action Unit 98: Frenchman Flat

    Energy Technology Data Exchange (ETDEWEB)

    NSTec Underground Test Area and Boreholes Programs and Operations

    2013-01-18

    Model Evaluation Well ER-5-5 was drilled for the U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office in support of Nevada Environmental Management Operations at the Nevada National Security Site (formerly known as the Nevada Test Site). The well was drilled in July and August 2012 as part of a model evaluation well program in the Frenchman Flat area of Nye County, Nevada. The primary purpose of the well was to provide detailed geologic, hydrogeologic, chemical, and radiological data that can be used to test and build confidence in the applicability of the Frenchman Flat Corrective Action Unit flow and transport models for their intended purpose. In particular, this well was designed to obtain data to evaluate the uncertainty in model forecasts of contaminant migration from the upgradient underground nuclear test MILK SHAKE, conducted in Emplacement Hole U-5k in 1968, which were considered to be uncertain due to the unknown extent of a basalt lava-flow aquifer present in this area. Well ER-5-5 is expected to provide information to refine the Phase II Frenchman Flat hydrostratigraphic framework model, if necessary, as well as to support future groundwater flow and transport modeling. The 31.1-centimeter (cm) diameter hole was drilled to a total depth of 331.3 meters (m). The completion string, set at the depth of 317.2 m, consists of 16.8-cm stainless-steel casing hanging from 19.4-cm carbon-steel casing. The 16.8-cm stainless-steel casing has one slotted interval open to the basalt lava-flow aquifer and limited intervals of the overlying and underlying alluvial aquifer. A piezometer string was also installed in the annulus between the completion string and the borehole wall. The piezometer is composed of 7.3-cm stainless-steel tubing suspended from 6.0-cm carbon-steel tubing. The piezometer string was landed at 319.2 m, to monitor the basalt lava-flow aquifer. Data collected during and shortly after hole construction include

  18. Closure report for housekeeping category, Corrective Action Unit 349, Area 12, Nevada Test Site

    International Nuclear Information System (INIS)

    1998-01-01

    This Closure Report summarizes the corrective actions which were completed at the Corrective Action Sites within Corrective Action Unit 349 Area 12 at the Nevada Test Site. Current site descriptions, observations and identification of wastes removed are included on FFACO Corrective Action Site housekeeping closure verification forms

  19. Closure report for housekeeping category, Corrective Action Unit 349, Area 12, Nevada Test Site

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1998-01-01

    This Closure Report summarizes the corrective actions which were completed at the Corrective Action Sites within Corrective Action Unit 349 Area 12 at the Nevada Test Site. Current site descriptions, observations and identification of wastes removed are included on FFACO Corrective Action Site housekeeping closure verification forms.

  20. CRISPR-Cas9: a promising genetic engineering approach in cancer research

    Science.gov (United States)

    Ratan, Zubair Ahmed; Son, Young-Jin; Uddin, Bhuiyan Mohammad Mahtab; Yusuf, Md. Abdullah; Zaman, Sojib Bin; Kim, Jong-Hoon; Banu, Laila Anjuman

    2018-01-01

    Bacteria and archaea possess adaptive immunity against foreign genetic materials through clustered regularly interspaced short palindromic repeat (CRISPR) systems. The discovery of this intriguing bacterial system heralded a revolutionary change in the field of medical science. The CRISPR and CRISPR-associated protein 9 (Cas9) based molecular mechanism has been applied to genome editing. This CRISPR-Cas9 technique is now able to mediate precise genetic corrections or disruptions in in vitro and in vivo environments. The accuracy and versatility of CRISPR-Cas have been capitalized upon in biological and medical research and bring new hope to cancer research. Cancer involves complex alterations and multiple mutations, translocations and chromosomal losses and gains. The ability to identify and correct such mutations is an important goal in cancer treatment. In the context of this complex cancer genomic landscape, there is a need for a simple and flexible genetic tool that can easily identify functional cancer driver genes within a comparatively short time. The CRISPR-Cas system shows promising potential for modeling, repairing and correcting genetic events in different types of cancer. This article reviews the concept of CRISPR-Cas, its application and related advantages in oncology. PMID:29434679

  1. From Operating-System Correctness to Pervasively Verified Applications

    Science.gov (United States)

    Daum, Matthias; Schirmer, Norbert W.; Schmidt, Mareike

    Though program verification is known and has been used for decades, the verification of a complete computer system still remains a grand challenge. Part of this challenge is the interaction of application programs with the operating system, which is usually entrusted with retrieving input data from and transferring output data to peripheral devices. In this scenario, the correct operation of the applications inherently relies on operating-system correctness. Based on the formal correctness of our real-time operating system Olos, this paper describes an approach to pervasively verify applications running on top of the operating system.

  2. Higher order corrections to energy levels of muonic atoms

    International Nuclear Information System (INIS)

    Rinker, G.A. Jr.; Steffen, R.M.

    1975-08-01

    In order to facilitate the analysis of muonic x-ray spectra, the results of numerical computations of all higher order quantum electrodynamical corrections to the energy levels of muonic atoms are presented in tabular and graphical form. These corrections include the vacuum polarization corrections caused by emission and reabsorption of virtual electron pairs to all orders, including ''double-bubble'' and ''cracked-egg'' diagrams. An estimate of the Delbruecke scattering-type correction is presented. The Lamb-shift (second- and fourth-order vertex) corrections have been calculated including the correction for the anomalous magnetic moment of the muon. The relativistic nuclear motion (or recoil) correction as well as the correction caused by the screening of the atomic electrons is presented in graphs. For the sake of completeness a graph of the nuclear polarization as computed on the basis of Chen's approach has been included. All calculations were made with a two-parameter Fermi distribution of the nuclear charge density. 7 figures, 23 references

  3. An unusual cause of conductive hearing loss: bilateral complete meatal obstruction following otoplasty.

    Science.gov (United States)

    Toplu, Yuksel; Toplu, Sibel Altunisik; Sapmaz, Emrah; Deliktas, Hacim

    2014-01-01

    There are many causes of conductive hearing loss. Otoplasty is a commonly performed cosmetic surgery to correction for prominent ear. We discussed an unusual cause of conductive hearing loss, bilateral complete meatal obstruction following otoplasty, in this article. This complication was probably due to unsuitable placement of the Furnas sutures. In the literature, as a cause of conductive hearing loss, unilateral complete meatal obstruction has been described rarely, but bilateral complete obstruction has not been defined. Hearing loss recovered completely after revision surgery. Correct diagnosis, accurate preoperative or perioperative examination, choice of the proper technique and surgeon experience are essential for avoiding inadequate results or complications of otoplasty. The surgeon should be aware of the cartilage elasticity and suture techniques to avoid this complication.

  4. Prior-based artifact correction (PBAC) in computed tomography

    International Nuclear Information System (INIS)

    Heußer, Thorsten; Brehm, Marcus; Ritschl, Ludwig; Sawall, Stefan; Kachelrieß, Marc

    2014-01-01

    Purpose: Image quality in computed tomography (CT) often suffers from artifacts which may reduce the diagnostic value of the image. In many cases, these artifacts result from missing or corrupt regions in the projection data, e.g., in the case of metal, truncation, and limited angle artifacts. The authors propose a generalized correction method for different kinds of artifacts resulting from missing or corrupt data by making use of available prior knowledge to perform data completion. Methods: The proposed prior-based artifact correction (PBAC) method requires prior knowledge in form of a planning CT of the same patient or in form of a CT scan of a different patient showing the same body region. In both cases, the prior image is registered to the patient image using a deformable transformation. The registered prior is forward projected and data completion of the patient projections is performed using smooth sinogram inpainting. The obtained projection data are used to reconstruct the corrected image. Results: The authors investigate metal and truncation artifacts in patient data sets acquired with a clinical CT and limited angle artifacts in an anthropomorphic head phantom data set acquired with a gantry-based flat detector CT device. In all cases, the corrected images obtained by PBAC are nearly artifact-free. Compared to conventional correction methods, PBAC achieves better artifact suppression while preserving the patient-specific anatomy at the same time. Further, the authors show that prominent anatomical details in the prior image seem to have only minor impact on the correction result. Conclusions: The results show that PBAC has the potential to effectively correct for metal, truncation, and limited angle artifacts if adequate prior data are available. Since the proposed method makes use of a generalized algorithm, PBAC may also be applicable to other artifacts resulting from missing or corrupt data

  5. Generalized radiative corrections for hadronic targets

    International Nuclear Information System (INIS)

    Calan, C. de; Navelet, H.; Picard, J.

    1990-02-01

    Besides the radiative corrections theory at the order α 2 for reactions involving an arbitrary number of particles, this report gives the complete formula for the correction factor δ in dσ = dσ Born (1 + δ). The only approximation made here - unavoidable in this formulation - is to assume that the Born amplitude can be factorized. This calculation is valid for spin zero bosons. In the 1/2 fermion case, an extra contribution appears which has been analytically computed using a minor approximation. Special care has been devoted to the 1/v divergence of the amplitude near thresholds [fr

  6. Magnetic field measurement and correction of VECC K500 superconducting cyclotron

    International Nuclear Information System (INIS)

    Dey, M.K.; Debnath, J.; Bhunia, U.; Pradhan, J.; Rashid, H.; Paul, S.; Dutta, A.; Naser, Z.A.; Singh, V.; Pal, G.; Nandi, C.; Dasgupta, S.; Bhattacharya, S.; Pal, S.; Roy, A.; Bhattacharya, T.; Bhole, R.B.; Bhale, D.; Chatterjee, M.; Prasad, R.; Nabhiraj, P.Y.; Hazra, D.P.; Mallik, C.; Bhandari, R.K.

    2006-01-01

    The VECC K500 superconducting cyclotron magnet is commissioned and magnetic field measurement and correction program was successfully completed in March 2006. Here we report the analysis of the measured field data and subsequent correction of the magnet to improve the field quality. (author)

  7. Corrective Action Decision Document/Closure Report for Corrective Action Unit 367: Area 10 Sedan, Ess and Uncle Unit Craters Nevada National Security Site, Nevada, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Patrick Matthews

    2011-06-01

    Corrective Action Unit 367 comprises four corrective action sites (CASs): • 10-09-03, Mud Pit • 10-45-01, U-10h Crater (Sedan) • 10-45-02, Ess Crater Site • 10-45-03, Uncle Crater Site The purpose of this Corrective Action Decision Document/Closure Report is to provide justification and documentation of the corrective actions and site closure activities implemented at CAU 367. A corrective action of closure in place with use restrictions was completed at each of the three crater CASs (10-45-01, 10-45-02, and 10-45-03); corrective actions were not required at CAS 10-09-03. In addition, a limited soil removal corrective action was conducted at the location of a potential source material release. Based on completion of these correction actions, no additional corrective action is required at CAU 367, and site closure is considered complete. Corrective action investigation (CAI) activities were performed from February 2010 through March 2011, as set forth in the Corrective Action Investigation Plan for Corrective Action Unit 367: Area 10 Sedan, Ess and Uncle Unit Craters, Nevada Test Site, Nevada. The approach for the CAI was divided into two facets: investigation of the primary release of radionuclides, and investigation of non-test or other releases (e.g., migration in washes and potential source material). Based on the proximity of the Uncle, Ess, and Sedan craters, the impact of the Sedan test on the fallout deposited from the two earlier tests, and aerial radiological surveys, the CAU 367 investigation was designed to study the releases from the three crater CASs as one combined release (primary release). Corrective Action Site 10-09-03, Mud Pit, consists of two mud pits identified at CAU 367. The mud pits are considered non-test releases or other releases and were investigated independent of the three crater CASs. The purpose of the CAI was to fulfill data needs as defined during the data quality objective (DQO) process. The CAU 367 dataset of

  8. 77 FR 25742 - Notice of Inventory Completion: Northwest Museum of Arts & Culture, Spokane, WA; Correction

    Science.gov (United States)

    2012-05-01

    ...-58430, September 24, 2010), paragraph six is corrected by substituting the following paragraph: Human... funerary objects are 1 basalt piece, 1 bone awl, 2 unworked and worked cache forms, 1 scraper, 2 pestles, 1 blade fragment, 1 piece of wood, 3 projectile points, and 1 knife. In the Federal Register (75 FR 58429...

  9. First complete NLL BFKL calculation of Mueller Navelet jets at LHC

    Energy Technology Data Exchange (ETDEWEB)

    Wallon, Samuel [Laboratoire de Physique Theorique d' Orsay - LPT, Bat. 210, Univ. Paris-Sud 11, 91405 Orsay Cedex (France); UPMC Univ. Paris 06 (France); Colferai, Dimitri [Dipartimento di Fisica, Universita di Firenze, Via G. Sansone 1, IT-50019 Firenze (Italy); Istituto Nazionale di Fisica Nucleare - INFN, Sezione di Firenze, Via G.Sansone 1, I-50019 Sesto Fiorentino, Firenze (Italy); Schwennsen, Florian [Deutsches Elektronen-Synchrotron - DESY, Platanenallee 6, D-15738 Zeuthen (Germany); Szymanowski, Lech [Soltan Institute for Nuclear Studies, Hoza 69, 00691, Warsaw (Poland)

    2010-07-01

    We calculate cross section and azimuthal de-correlation of Mueller Navelet jets at the LHC in the complete next-lo-leading order BFKL framework, i.e. including next-to-leading corrections to the Green's function as well as next-to-leading corrections to the Mueller Navelet vertices. The obtained results for standard observables proposed for studies of Mueller Navelet jets show that both sources of corrections are of equal, big importance for final magnitude and final behavior of observables. The astonishing conclusion of our analysis is that the observables obtained within the complete next-lo-leading order BFKL framework of the present work are quite similar to the same observables obtained within next-to-leading logarithm DGLAP type treatment. This fact sheds doubts on general belief that the studies of Mueller Navelet jets at the LHC will lead to clear discrimination between the BFKL and the DGLAP dynamics. (author)

  10. Complete genome sequences of six measles virus strains

    NARCIS (Netherlands)

    Phan, M.V.T. (My V.T.); C.M.E. Schapendonk (Claudia); B.B. Oude Munnink (Bas B.); M.P.G. Koopmans D.V.M. (Marion); R.L. de Swart (Rik); Cotten, M. (Matthew)

    2018-01-01

    textabstractGenetic characterization of wild-type measles virus (MV) strains is a critical component of measles surveillance and molecular epidemiology. We have obtained complete genome sequences of six MV strains belonging to different genotypes, using random-primed next generation sequencing.

  11. Corrective Action Decision Document/Closure Report for Corrective Action Unit 365: Baneberry Contamination Area, Nevada National Security Site, Nevada, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Patrick Matthews

    2011-09-01

    Corrective Action Unit 365 comprises one corrective action site (CAS), CAS 08-23-02, U-8d Contamination Area. The purpose of this CADD/CR is to provide justification and documentation supporting the recommendation that no further corrective action is needed for CAU 365 based on the implementation of the corrective action of closure in place with a use restriction (UR). Corrective action investigation (CAI) activities were performed from January 18, 2011, through August 2, 2011, as set forth in the Corrective Action Investigation Plan for Corrective Action Unit 365: Baneberry Contamination Area. The purpose of the CAI was to fulfill data needs as defined during the data quality objective (DQO) process. The CAU 365 dataset of investigation results was evaluated based on a data quality assessment. This assessment demonstrated the dataset is complete and acceptable for use in supporting the DQO decisions. Investigation results were evaluated against final action levels (FALs) established in this document. A radiological dose FAL of 25 millirem per year was established based on the Remote Work Area exposure scenario (336 hours of annual exposure). Radiological doses exceeding the FAL were found to be present to the southwest of the Baneberry crater. It was also assumed that radionuclide levels present within the crater and fissure exceed the FAL. Corrective actions were undertaken that consisted of establishing a UR and posting warning signs for the crater, fissure, and the area located to the southwest of the crater where soil concentrations exceeded the FAL. These URs were recorded in the FFACO database; the U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office (NNSA/NSO) Facility Information Management System; and the NNSA/NSO CAU/CAS files. Therefore, NNSA/NSO provides the following recommendations: (1) No further corrective actions beyond what are described in this document are necessary for CAU 365. (2) A Notice of Completion to

  12. Genetics educational needs in China: physicians' experience and knowledge of genetic testing.

    Science.gov (United States)

    Li, Jing; Xu, Tengda; Yashar, Beverly M

    2015-09-01

    The aims of this study were to explore the relationship between physicians' knowledge and utilization of genetic testing and to explore genetics educational needs in China. An anonymous survey about experience, attitudes, and knowledge of genetic testing was conducted among physicians affiliated with Peking Union Medical College Hospital during their annual health evaluation. A personal genetics knowledge score was developed and predictors of personal genetics knowledge score were evaluated. Sixty-four physicians (33% male) completed the survey. Fifty-eight percent of them had used genetic testing in their clinical practice. Using a 4-point scale, mean knowledge scores of six common genetic testing techniques ranged from 1.7 ± 0.9 to 2.4 ± 1.0, and the average personal genetics knowledge score was 2.1 ± 0.8. In regression analysis, significant predictors of higher personal genetics knowledge score were ordering of genetic testing, utilization of pedigrees, higher medical degree, and recent genetics training (P education. This study demonstrated a sizable gap between Chinese physicians' knowledge and utilization of genetic testing. Participants had high self-perceived genetics educational needs. Development of genetics educational platforms is both warranted and desired in China.Genet Med 17 9, 757-760.

  13. Common variations in 4p locus are related to male completed suicide.

    Science.gov (United States)

    Must, Anne; Kõks, Sulev; Vasar, Eero; Tasa, Gunnar; Lang, Aavo; Maron, Eduard; Väli, Marika

    2009-01-01

    Suicidal behavior is a multifactorial phenomenon, with a significant genetic predisposition. To assess the contribution of genes in the 4p region to suicide risk, we genotyped 36 single nucleotide polymorphisms from a 49Mb region on the chromosome arm 4p11-16 in a total of 288 male suicide victims and 327 healthy male volunteers. The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, and rs734312 in WFS1 gene were associated to the male completed suicide. However, only EVC polymorphism remained significant after correcting for multiple comparisons (P < .05 after 10 K permutations). The function of these genes is not clear yet. WFS1 and HTT are related to the unfolded protein response and endoplasmic reticulum stress, and TBC1D1 is a GTPase activator. EVC is a protein with transmembrane and leucine zipper domains, its function has not been elucidated yet. Further studies are required in order to reveal the role of these four polymorphisms in the pathoetiology of suicide.

  14. Complete chloroplast genome sequence of MD-2 pineapple and its comparative analysis among nine other plants from the subclass Commelinidae.

    Science.gov (United States)

    Redwan, R M; Saidin, A; Kumar, S V

    2015-08-12

    Pineapple (Ananas comosus var. comosus) is known as the king of fruits for its crown and is the third most important tropical fruit after banana and citrus. The plant, which is indigenous to South America, is the most important species in the Bromeliaceae family and is largely traded for fresh fruit consumption. Here, we report the complete chloroplast sequence of the MD-2 pineapple that was sequenced using the PacBio sequencing technology. In this study, the high error rate of PacBio long sequence reads of A. comosus's total genomic DNA were improved by leveraging on the high accuracy but short Illumina reads for error-correction via the latest error correction module from Novocraft. Error corrected long PacBio reads were assembled by using a single tool to produce a contig representing the pineapple chloroplast genome. The genome of 159,636 bp in length is featured with the conserved quadripartite structure of chloroplast containing a large single copy region (LSC) with a size of 87,482 bp, a small single copy region (SSC) with a size of 18,622 bp and two inverted repeat regions (IRA and IRB) each with the size of 26,766 bp. Overall, the genome contained 117 unique coding regions and 30 were repeated in the IR region with its genes contents, structure and arrangement similar to its sister taxon, Typha latifolia. A total of 35 repeats structure were detected in both the coding and non-coding regions with a majority being tandem repeats. In addition, 205 SSRs were detected in the genome with six protein-coding genes contained more than two SSRs. Comparative chloroplast genomes from the subclass Commelinidae revealed a conservative protein coding gene albeit located in a highly divergence region. Analysis of selection pressure on protein-coding genes using Ka/Ks ratio showed significant positive selection exerted on the rps7 gene of the pineapple chloroplast with P less than 0.05. Phylogenetic analysis confirmed the recent taxonomical relation among the member of

  15. 78 FR 64007 - Notice of Inventory Completion: University of Denver Department of Anthropology and Museum of...

    Science.gov (United States)

    2013-10-25

    ....R50000] Notice of Inventory Completion: University of Denver Department of Anthropology and Museum of Anthropology, Denver, CO; Correction AGENCY: National Park Service, Interior. ACTION: Notice; correction. SUMMARY: The University of Denver Museum of Anthropology has corrected an inventory of human remains and...

  16. RSA and its Correctness through Modular Arithmetic

    Science.gov (United States)

    Meelu, Punita; Malik, Sitender

    2010-11-01

    To ensure the security to the applications of business, the business sectors use Public Key Cryptographic Systems (PKCS). An RSA system generally belongs to the category of PKCS for both encryption and authentication. This paper describes an introduction to RSA through encryption and decryption schemes, mathematical background which includes theorems to combine modular equations and correctness of RSA. In short, this paper explains some of the maths concepts that RSA is based on, and then provides a complete proof that RSA works correctly. We can proof the correctness of RSA through combined process of encryption and decryption based on the Chinese Remainder Theorem (CRT) and Euler theorem. However, there is no mathematical proof that RSA is secure, everyone takes that on trust!.

  17. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. SHUWU QI. Articles written in Journal of Genetics. Volume 96 Issue 4 September 2017 pp 695-700 RESEARCH NOTE. Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China · JING HE SHUWU QI HUIJUN ZHANG JINGJING GUO ...

  18. Genetic Analysis of Oncorhynchus Nerka : Life History and Genetic Analysis of Redfish Lake Oncorhynchus Nerka, 1993-1994 Completion Report.

    Energy Technology Data Exchange (ETDEWEB)

    Brannon, E.L.; Thorgaard, G.H.; Cummings, S.A.

    1994-10-01

    The study has shown through life history examination and DNA analysis that three forms of O. nerka are present in Redfish Lake. The three forms are closely related, but may be sufficiently different to be considered three separate stocks. Fishhook Creek kokanee are temporally isolated from the beach spawners, and may represent the gene pool most similar to the historic sockeye population that once spawned there. Fishhook Creek offers the best spawning area available in the lake system, and should be considered for use in reestablishing an anadromous Fishhook Creek sockeye swain. The resident beach spawning strain of O. nerka is likewise the most similar genetic form of the companion anadromous beach spawning O. nerka, and needs to be considered the most appropriate genetic source to help minimize reduced fitness of the sockeye from inbreeding.

  19. Kinematic power corrections in off-forward hard reactions.

    Science.gov (United States)

    Braun, V M; Manashov, A N

    2011-11-11

    We develop a general approach to the calculation of kinematic corrections ∝t/Q(2), m(2)/Q(2) in hard processes which involve momentum transfer from the initial to the final hadron state. As the principal result, the complete expression is derived for the time-ordered product of two electromagnetic currents that includes all kinematic corrections to twist-four accuracy. The results are immediately applicable, e.g., to the studies of deeply virtual Compton scattering.

  20. Visual performance in cataract patients with low levels of postoperative astigmatism: full correction versus spherical equivalent correction

    Directory of Open Access Journals (Sweden)

    Lehmann RP

    2012-03-01

    Full Text Available Robert P Lehmann1, Diane M Houtman21Lehmann Eye Center, Nacogdoches, TX, 2Alcon Research Ltd, Fort Worth, TX, USAPurpose: To evaluate whether visual performance could be improved in pseudophakic subjects by correcting low levels of postoperative astigmatism.Methods: An exploratory, noninterventional study was conducted using subjects who had been implanted with an aspheric intraocular lens and had 0.5–0.75 diopter postoperative astigmatism. Monocular visual performance using full correction was compared with visual performance using spherical equivalent correction. Testing consisted of high- and low-contrast visual acuity, contrast sensitivity, and reading acuity and speed using the Radner Reading Charts.Results: Thirty-eight of 40 subjects completed testing. Visual acuities at three contrast levels (100%, 25%, and 9% were significantly better using full correction than when using spherical equivalent correction (all P < 0.001. For contrast sensitivity testing under photopic, mesopic, and mesopic with glare conditions, only one out of twelve outcomes demonstrated a significant improvement with full correction compared with spherical equivalent correction (at six cycles per degree under mesopic without glare conditions, P = 0.046. Mean reading speed was numerically faster with full correction across all print sizes, reaching statistical significance at logarithm of the reading acuity determination (logRAD 0.2, 0.7, and 1.1 (P , 0.05. Statistically significant differences also favored full correction in logRAD score (P = 0.0376, corrected maximum reading speed (P < 0.001, and logarithm of the minimum angle of resolution/logRAD ratio (P < 0.001.Conclusions: In this study of pseudophakic subjects with low levels of postoperative astigmatism, full correction yielded significantly better reading performance and high- and low-contrast visual acuity than spherical equivalent correction, suggesting that cataractous patients may benefit from surgical

  1. Completion Report for Model Evaluation Well ER-11-2: Corrective Action Unit 98: Frenchman Flat

    Energy Technology Data Exchange (ETDEWEB)

    NSTec Underground Test Area and Boreholes Programs and Operations

    2013-01-22

    Model Evaluation Well ER-11-2 was drilled for the U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office in support of Nevada Environmental Management Operations at the Nevada National Security Site (formerly known as the Nevada Test Site). The well was drilled in August 2012 as part of a model evaluation program in the Frenchman Flat area of Nye County, Nevada. The primary purpose of the well was to provide detailed geologic, hydrogeologic, chemical, and radionuclide data that can be used to test and build confidence in the applicability of the Frenchman Flat Corrective Action Unit flow and transport models for their intended purpose. In particular, this well was designed to provide data to evaluate the uncertainty in model forecasts of contaminant migration from the upgradient underground nuclear test PIN STRIPE, conducted in borehole U-11b in 1966. Well ER-11-2 will provide information that can be used to refine the Phase II Frenchman Flat hydrostratigraphic framework model if necessary, as well as to support future groundwater flow and transport modeling. The main 31.1-centimeter (cm) hole was drilled to a total depth of 399.6 meters (m). A completion casing string was not set in Well ER-11-2. However, a piezometer string was installed in the 31.1-cm open hole. The piezometer is composed of 7.3-cm stainless-steel tubing hung on 6.0-cm carbon-steel tubing via a crossover sub. The piezometer string was landed at 394.5 m, for monitoring the lower tuff confining unit. Data collected during and shortly after hole construction include composite drill cuttings samples collected every 3.0 m, various geophysical logs, water quality (including tritium and other test-related radionuclides) measurements, and water level measurements. The well penetrated 42.7 m of Quaternary and Tertiary alluvium and 356.9 m of Tertiary volcanic rock. The water-level measured in the piezometer string on September 25, 2012, was 353.8 m below ground surface. No

  2. Token-Aware Completion Functions for Elastic Processor Verification

    Directory of Open Access Journals (Sweden)

    Sudarshan K. Srinivasan

    2009-01-01

    Full Text Available We develop a formal verification procedure to check that elastic pipelined processor designs correctly implement their instruction set architecture (ISA specifications. The notion of correctness we use is based on refinement. Refinement proofs are based on refinement maps, which—in the context of this problem—are functions that map elastic processor states to states of the ISA specification model. Data flow in elastic architectures is complicated by the insertion of any number of buffers in any place in the design, making it hard to construct refinement maps for elastic systems in a systematic manner. We introduce token-aware completion functions, which incorporate a mechanism to track the flow of data in elastic pipelines, as a highly automated and systematic approach to construct refinement maps. We demonstrate the efficiency of the overall verification procedure based on token-aware completion functions using six elastic pipelined processor models based on the DLX architecture.

  3. Corrective action program reengineering project

    International Nuclear Information System (INIS)

    Vernick, H.R.

    1996-01-01

    A series of similar refueling floor events that occurred during the early 1990s prompted Susquehanna steam electric station (SSES) management to launch a broad-based review of how the Nuclear Department conducts business. This was accomplished through the formation of several improvement initiative teams. Clearly, one of the key areas that benefited from this management initiative was the corrective action program. The corrective action improvement team was charged with taking a comprehensive look at how the Nuclear Department identified and resolved problems. The 10-member team included management and bargaining unit personnel as well as an external management consultant. This paper provides a summary of this self-assessment initiative, including a discussion of the issues identified, opportunities for improvement, and subsequent completed or planned actions

  4. Mirror symmetry, mirror map and applications to complete intersection Calabi-Yau spaces

    CERN Document Server

    Hosono, S.; Theisen, S.; Yau, Shing-Tung

    1995-01-01

    We extend the discussion of mirror symmetry, Picard-Fuchs equations, instanton corrected Yukawa couplings and the topological one loop partition function to the case of complete intersections with higher dimensional moduli spaces. We will develop a new method of obtaining the instanton corrected Yukawa couplings through a study of the solutions of the Picard-Fuchs equations. This leads to closed formulas for the prepotential for the K\\"ahler moduli fields induced from the ambient space for all complete intersections in nonsingular weighted projective spaces. As examples we treat part of the moduli space of the phenomenologically interesting three generation models which are found in this class. We also apply our method to solve the simplest model in which topology change was observed and discuss examples of complete intersections in singular ambient spaces.

  5. Algebras in genetics

    CERN Document Server

    Wörz-Busekros, Angelika

    1980-01-01

    The purpose of these notes is to give a rather complete presentation of the mathematical theory of algebras in genetics and to discuss in detail many applications to concrete genetic situations. Historically, the subject has its origin in several papers of Etherington in 1939- 1941. Fundamental contributions have been given by Schafer, Gonshor, Holgate, Reiers¢l, Heuch, and Abraham. At the moment there exist about forty papers in this field, one survey article by Monique Bertrand from 1966 based on four papers of Etherington, a paper by Schafer and Gonshor's first paper. Furthermore Ballonoff in the third section of his book "Genetics and Social Structure" has included four papers by Etherington and Reiers¢l's paper. Apparently a complete review, in par­ ticular one comprising more recent results was lacking, and it was difficult for students to enter this field of research. I started to write these notes in spring 1978. A first german version was finished at the end of that year. Further revision and tran...

  6. Correction

    DEFF Research Database (Denmark)

    Pinkevych, Mykola; Cromer, Deborah; Tolstrup, Martin

    2016-01-01

    [This corrects the article DOI: 10.1371/journal.ppat.1005000.][This corrects the article DOI: 10.1371/journal.ppat.1005740.][This corrects the article DOI: 10.1371/journal.ppat.1005679.].......[This corrects the article DOI: 10.1371/journal.ppat.1005000.][This corrects the article DOI: 10.1371/journal.ppat.1005740.][This corrects the article DOI: 10.1371/journal.ppat.1005679.]....

  7. Beyond hypercorrection: remembering corrective feedback for low-confidence errors.

    Science.gov (United States)

    Griffiths, Lauren; Higham, Philip A

    2018-02-01

    Correcting errors based on corrective feedback is essential to successful learning. Previous studies have found that corrections to high-confidence errors are better remembered than low-confidence errors (the hypercorrection effect). The aim of this study was to investigate whether corrections to low-confidence errors can also be successfully retained in some cases. Participants completed an initial multiple-choice test consisting of control, trick and easy general-knowledge questions, rated their confidence after answering each question, and then received immediate corrective feedback. After a short delay, they were given a cued-recall test consisting of the same questions. In two experiments, we found high-confidence errors to control questions were better corrected on the second test compared to low-confidence errors - the typical hypercorrection effect. However, low-confidence errors to trick questions were just as likely to be corrected as high-confidence errors. Most surprisingly, we found that memory for the feedback and original responses, not confidence or surprise, were significant predictors of error correction. We conclude that for some types of material, there is an effortful process of elaboration and problem solving prior to making low-confidence errors that facilitates memory of corrective feedback.

  8. Target mass corrections to electroweak structure functions and perturbative neutrino cross sections

    International Nuclear Information System (INIS)

    Kretzer, S.; Reno, M.H.

    2004-01-01

    We provide a complete and consistent framework to include subasymptotic perturbative as well as mass corrections to the leading twist (τ=2) evaluation of charged and neutral current weak structure functions and the perturbative neutrino cross sections. We reexamine previous calculations in a modern language and fill in the gaps that we find missing for a complete and ready-to-use 'NLO ξ-scaling' formulary. In particular, as a new result we formulate the mixing of the partonic and hadronic structure function tensor basis in the operator approach to deep inelastic scattering. As an underlying framework we follow the operator product expansion in the manner of Georgi and Politzer that allows the inclusion of target mass corrections at arbitrary order in QCD and we provide explicit analytical and numerical results at NLO. We compare this approach with a simpler collinear parton model approach to ξ scaling. Along with target mass corrections we include heavy quark mass effects as a calculable leading twist power suppressed correction. The complete corrections have been implemented into a Monte Carlo integration program to evaluate structure functions and/or integrated cross sections. As applications, we compare the operator approach with the collinear approximation numerically and we investigate the NLO and mass corrections to observables that are related to the extraction of the weak mixing angle from a Paschos-Wolfenstein-like relation in neutrino-iron scattering. We expect that the interpretation of neutrino scattering events in terms of oscillation physics and electroweak precision physics will benefit from our results

  9. Corrective Action Decision Document/ Closure Report for Corrective Action Unit 556: Dry Wells and Surface Release Points, Nevada Test Site, Nevada with Errata Sheet, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Grant Evenson

    2008-09-01

    This Corrective Action Decision Document (CADD)/Closure Report (CR) has been prepared for Corrective Action Unit 556, Dry Wells and Surface Release Points, located at the Nevada Test Site, Nevada, in accordance with the Federal Facility Agreement and Consent Order (FFACO, 1996; as amended February 2008). Corrective Action Unit (CAU) 556 is comprised of four corrective action sites (CASs): • 06-20-04, National Cementers Dry Well • 06-99-09, Birdwell Test Hole • 25-60-03, E-MAD Stormwater Discharge and Piping • 25-64-01, Vehicle Washdown and Drainage Pit The purpose of this CADD/CR is to provide justification and documentation supporting the recommendation for closure of CAU 556 with no further corrective action. To achieve this, corrective action investigation (CAI) activities began on February 7 and were completed on June 19, 2008, as set forth in the Corrective Action Investigation Plan for Corrective Action Unit 556: Dry Wells and Surface Release Points, Nevada Test Site, Nevada (NNSA/NSO, 2007). The purpose of the CAI was to fulfill the following data needs as defined during the data quality objective (DQO) process: • Determine whether contaminants of concern (COCs) are present. • If COCs are present, determine their nature and extent. • Provide sufficient information and data to complete appropriate corrective actions. The CAU 556 data were evaluated based on the data quality assessment process, which demonstrated the quality and acceptability of the data for use in fulfilling the DQO data needs. Analytes detected during the CAI were evaluated against appropriate final action levels (FALs) to identify the COCs for each CAS. The results of the CAI identified COCs at one of the four CASs in CAU 556 that required the completion of a corrective action. Assessment of the data generated from investigation activities conducted at CAU 556 revealed the following: • Corrective Action Sites 06-20-04, 06-99-09, and 25-64-01 do not contain contamination at

  10. CRISPR Correction of a Homozygous Low-Density Lipoprotein Receptor Mutation in Familial Hypercholesterolemia Induced Pluripotent Stem Cells.

    Science.gov (United States)

    Omer, Linda; Hudson, Elizabeth A; Zheng, Shirong; Hoying, James B; Shan, Yuan; Boyd, Nolan L

    2017-11-01

    Familial hypercholesterolemia (FH) is a hereditary disease primarily due to mutations in the low-density lipoprotein receptor (LDLR) that lead to elevated cholesterol and premature development of cardiovascular disease. Homozygous FH patients (HoFH) with two dysfunctional LDLR alleles are not as successfully treated with standard hypercholesterol therapies, and more aggressive therapeutic approaches to control cholesterol levels must be considered. Liver transplant can resolve HoFH, and hepatocyte transplantation has shown promising results in animals and humans. However, demand for donated livers and high-quality hepatocytes overwhelm the supply. Human pluripotent stem cells can differentiate to hepatocyte-like cells (HLCs) with the potential for experimental and clinical use. To be of future clinical use as autologous cells, LDLR genetic mutations in derived FH-HLCs need to be corrected. Genome editing technology clustered-regularly-interspaced-short-palindromic-repeats/CRISPR-associated 9 (CRISPR/Cas9) can repair pathologic genetic mutations in human induced pluripotent stem cells. We used CRISPR/Cas9 genome editing to permanently correct a 3-base pair homozygous deletion in LDLR exon 4 of patient-derived HoFH induced pluripotent stem cells. The genetic correction restored LDLR-mediated endocytosis in FH-HLCs and demonstrates the proof-of-principle that CRISPR-mediated genetic modification can be successfully used to normalize HoFH cholesterol metabolism deficiency at the cellular level.

  11. Supplementary data: A complete mitochondrial genome of wheat ...

    Indian Academy of Sciences (India)

    Supplementary data: A complete mitochondrial genome of wheat (Triticum aestivum cv. Chinese Yumai), and fast evolving mitochondrial genes in higher plants. Peng Cui, Huitao Liu, Qiang Lin, Feng Ding, Guoyin Zhuo, Songnian Hu, Dongcheng Liu, Wenlong Yang, Kehui Zhan,. Aimin Zhang and Jun Yu. J. Genet.

  12. Overdispersion in allelic counts and θ-correction in forensic genetics

    DEFF Research Database (Denmark)

    Tvedebrink, Torben

    2010-01-01

    We present a statistical model for incorporating the extra variability in allelic counts due to subpopulation structures. In forensic genetics, this effect is modelled by the identical-by-descent parameter θ, which measures the relationship between pairs of alleles within a population relative...... with computation of the profile log-likelihood, confidence intervals and hypothesis testing. In order to compare our method with existing methods, we reanalysed FBI data from Budowle and Moretti (1999) with allele counts in six US subpopulations. Furthermore, we investigate properties of our methodology from...

  13. STARL -- a Program to Correct CCD Image Defects

    Science.gov (United States)

    Narbutis, D.; Vanagas, R.; Vansevičius, V.

    We present a program tool, STARL, designed for automatic detection and correction of various defects in CCD images. It uses genetic algorithm for deblending and restoring of overlapping saturated stars in crowded stellar fields. Using Subaru Telescope Suprime-Cam images we demonstrate that the program can be implemented in the wide-field survey data processing pipelines for production of high quality color mosaics. The source code and examples are available at the STARL website.

  14. A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective.

    Science.gov (United States)

    Burgess, Kelly R; Carmany, Erin P; Trepanier, Angela M

    2016-02-01

    Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.

  15. Functional Impressions in Complete Denture and Overdenture Treatment

    Directory of Open Access Journals (Sweden)

    Hrvoje Kršek

    2015-01-01

    Full Text Available Tooth loss can cause loss of occlusal, masticatory, esthetic, physiognomic, phonetic and psychosocial function of patients. The most frequently used treatment method of completely edentulous patients and patients with a small number of remaining teeth are complete dentures or overdentures. One of the most important clinical and laboratory procedures in their fabrication is functional impression taking. The aim of this paper was to present procedures of taking functional impressions in fabrication of complete dentures and overdentures, using standardized techniques and materials. An accurate functional impression together with other correctly performed clinical and laboratory procedures ensure good retention and stability of dentures, which is a precondition for restoring patients’ lost functions.

  16. The complete nucleotide sequences of the five genetically distinct plastid genomes of Oenothera, subsection Oenothera: I. sequence evaluation and plastome evolution.

    Science.gov (United States)

    Greiner, Stephan; Wang, Xi; Rauwolf, Uwe; Silber, Martina V; Mayer, Klaus; Meurer, Jörg; Haberer, Georg; Herrmann, Reinhold G

    2008-04-01

    The flowering plant genus Oenothera is uniquely suited for studying molecular mechanisms of speciation. It assembles an intriguing combination of genetic features, including permanent translocation heterozygosity, biparental transmission of plastids, and a general interfertility of well-defined species. This allows an exchange of plastids and nuclei between species often resulting in plastome-genome incompatibility. For evaluation of its molecular determinants we present the complete nucleotide sequences of the five basic, genetically distinguishable plastid chromosomes of subsection Oenothera (=Euoenothera) of the genus, which are associated in distinct combinations with six basic genomes. Sizes of the chromosomes range from 163 365 bp (plastome IV) to 165 728 bp (plastome I), display between 96.3% and 98.6% sequence similarity and encode a total of 113 unique genes. Plastome diversification is caused by an abundance of nucleotide substitutions, small insertions, deletions and repetitions. The five plastomes deviate from the general ancestral design of plastid chromosomes of vascular plants by a subsection-specific 56 kb inversion within the large single-copy segment. This inversion disrupted operon structures and predates the divergence of the subsection presumably 1 My ago. Phylogenetic relationships suggest plastomes I-III in one clade, while plastome IV appears to be closest to the common ancestor.

  17. The complete nucleotide sequences of the five genetically distinct plastid genomes of Oenothera, subsection Oenothera: I. Sequence evaluation and plastome evolution†

    Science.gov (United States)

    Greiner, Stephan; Wang, Xi; Rauwolf, Uwe; Silber, Martina V.; Mayer, Klaus; Meurer, Jörg; Haberer, Georg; Herrmann, Reinhold G.

    2008-01-01

    The flowering plant genus Oenothera is uniquely suited for studying molecular mechanisms of speciation. It assembles an intriguing combination of genetic features, including permanent translocation heterozygosity, biparental transmission of plastids, and a general interfertility of well-defined species. This allows an exchange of plastids and nuclei between species often resulting in plastome–genome incompatibility. For evaluation of its molecular determinants we present the complete nucleotide sequences of the five basic, genetically distinguishable plastid chromosomes of subsection Oenothera (=Euoenothera) of the genus, which are associated in distinct combinations with six basic genomes. Sizes of the chromosomes range from 163 365 bp (plastome IV) to 165 728 bp (plastome I), display between 96.3% and 98.6% sequence similarity and encode a total of 113 unique genes. Plastome diversification is caused by an abundance of nucleotide substitutions, small insertions, deletions and repetitions. The five plastomes deviate from the general ancestral design of plastid chromosomes of vascular plants by a subsection-specific 56 kb inversion within the large single-copy segment. This inversion disrupted operon structures and predates the divergence of the subsection presumably 1 My ago. Phylogenetic relationships suggest plastomes I–III in one clade, while plastome IV appears to be closest to the common ancestor. PMID:18299283

  18. The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011

    Directory of Open Access Journals (Sweden)

    F. Censi

    2013-01-01

    Full Text Available Since 2001 the Istituto Superiore di Sanità established a quality assurance programme for molecular genetic testing that covers four pathologies: Cystic Fibrosis (CF, Beta Thalassemia (BT, Fragile X Syndrome (FX, and Familial Adenomatous Polyposis Coli (APC. Since 2009 this activity is an institutional activity and participation is open to both public and private laboratories. Seven rounds have been performed until now and the eighth is in progress. Laboratories receive 4 DNA samples with mock clinical indications. They analyze the samples using their routine procedures. A panel of assessors review the raw data and the reports; all data are managed through a web utility. In 2010 the number of participants was 43, 17, 15, 5 for CF, BT, FX, APC schemes respectively. Genotyping results were correct in 96%, 98.5%, 100%, and 100% of CF, BT, FX, and APC samples, respectively. Interpretation was correct in 74%, 91%, 88%, and 60% of CF, BT, FX, and APC reports, respectively; however in most of them it was not complete but a referral to genetic counseling was given. Reports were satisfactory in more than 60% of samples in all schemes. This work presents the 2010 results in detail comparing our data with those from other European schemes.

  19. The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).

    Science.gov (United States)

    Censi, F; Tosto, F; Floridia, G; Marra, M; Salvatore, M; Baffico, A M; Grasso, M; Melis, M A; Pelo, E; Radice, P; Ravani, A; Rosatelli, C; Resta, N; Russo, S; Seia, M; Varesco, L; Falbo, V; Taruscio, D

    2013-01-01

    Since 2001 the Istituto Superiore di Sanità established a quality assurance programme for molecular genetic testing that covers four pathologies: Cystic Fibrosis (CF), Beta Thalassemia (BT), Fragile X Syndrome (FX), and Familial Adenomatous Polyposis Coli (APC). Since 2009 this activity is an institutional activity and participation is open to both public and private laboratories. Seven rounds have been performed until now and the eighth is in progress. Laboratories receive 4 DNA samples with mock clinical indications. They analyze the samples using their routine procedures. A panel of assessors review the raw data and the reports; all data are managed through a web utility. In 2010 the number of participants was 43, 17, 15, 5 for CF, BT, FX, APC schemes respectively. Genotyping results were correct in 96%, 98.5%, 100%, and 100% of CF, BT, FX, and APC samples, respectively. Interpretation was correct in 74%, 91%, 88%, and 60% of CF, BT, FX, and APC reports, respectively; however in most of them it was not complete but a referral to genetic counseling was given. Reports were satisfactory in more than 60% of samples in all schemes. This work presents the 2010 results in detail comparing our data with those from other European schemes.

  20. Photobleaching correction in fluorescence microscopy images

    International Nuclear Information System (INIS)

    Vicente, Nathalie B; Diaz Zamboni, Javier E; Adur, Javier F; Paravani, Enrique V; Casco, Victor H

    2007-01-01

    Fluorophores are used to detect molecular expression by highly specific antigen-antibody reactions in fluorescence microscopy techniques. A portion of the fluorophore emits fluorescence when irradiated with electromagnetic waves of particular wavelengths, enabling its detection. Photobleaching irreversibly destroys fluorophores stimulated by radiation within the excitation spectrum, thus eliminating potentially useful information. Since this process may not be completely prevented, techniques have been developed to slow it down or to correct resulting alterations (mainly, the decrease in fluorescent signal). In the present work, the correction by photobleaching curve was studied using E-cadherin (a cell-cell adhesion molecule) expression in Bufo arenarum embryos. Significant improvements were observed when applying this simple, inexpensive and fast technique

  1. Multi-population Genomic Relationships for Estimating Current Genetic Variances Within and Genetic Correlations Between Populations.

    Science.gov (United States)

    Wientjes, Yvonne C J; Bijma, Piter; Vandenplas, Jérémie; Calus, Mario P L

    2017-10-01

    Different methods are available to calculate multi-population genomic relationship matrices. Since those matrices differ in base population, it is anticipated that the method used to calculate genomic relationships affects the estimate of genetic variances, covariances, and correlations. The aim of this article is to define the multi-population genomic relationship matrix to estimate current genetic variances within and genetic correlations between populations. The genomic relationship matrix containing two populations consists of four blocks, one block for population 1, one block for population 2, and two blocks for relationships between the populations. It is known, based on literature, that by using current allele frequencies to calculate genomic relationships within a population, current genetic variances are estimated. In this article, we theoretically derived the properties of the genomic relationship matrix to estimate genetic correlations between populations and validated it using simulations. When the scaling factor of across-population genomic relationships is equal to the product of the square roots of the scaling factors for within-population genomic relationships, the genetic correlation is estimated unbiasedly even though estimated genetic variances do not necessarily refer to the current population. When this property is not met, the correlation based on estimated variances should be multiplied by a correction factor based on the scaling factors. In this study, we present a genomic relationship matrix which directly estimates current genetic variances as well as genetic correlations between populations. Copyright © 2017 by the Genetics Society of America.

  2. On the relation between gene flow theory and genetic gain

    Directory of Open Access Journals (Sweden)

    Woolliams John A

    2000-01-01

    Full Text Available Abstract In conventional gene flow theory the rate of genetic gain is calculated as the summed products of genetic selection differential and asymptotic proportion of genes deriving from sex-age groups. Recent studies have shown that asymptotic proportions of genes predicted from conventional gene flow theory may deviate considerably from true proportions. However, the rate of genetic gain predicted from conventional gene flow theory was accurate. The current note shows that the connection between asymptotic proportions of genes and rate of genetic gain that is embodied in conventional gene flow theory is invalid, even though genetic gain may be predicted correctly from it.

  3. Genetics of aggression.

    Science.gov (United States)

    Anholt, Robert R H; Mackay, Trudy F C

    2012-01-01

    Aggression mediates competition for food, mating partners, and habitats and, among social animals, establishes stable dominance hierarchies. In humans, abnormal aggression is a hallmark of neuropsychiatric disorders and can be elicited by environmental factors acting on an underlying genetic susceptibility. Identifying the genetic architecture that predisposes to aggressive behavior in people is challenging because of difficulties in quantifying the phenotype, genetic heterogeneity, and uncontrolled environmental conditions. Studies on mice have identified single-gene mutations that result in hyperaggression, contingent on genetic background. These studies can be complemented by systems genetics approaches in Drosophila melanogaster, in which mutational analyses together with genome-wide transcript analyses, artificial selection studies, and genome-wide analysis of epistasis have revealed that a large segment of the genome contributes to the manifestation of aggressive behavior with widespread epistatic interactions. Comparative genomic analyses based on the principle of evolutionary conservation are needed to enable a complete dissection of the neurogenetic underpinnings of this universal fitness trait.

  4. Corrective Action Plan for Corrective Action Unit 417: Central Nevada Test Area Surface, Nevada

    Energy Technology Data Exchange (ETDEWEB)

    K. Campbell

    2000-04-01

    This Corrective Action Plan provides methods for implementing the approved corrective action alternative as provided in the Corrective Action Decision Document for the Central Nevada Test Area (CNTA), Corrective Action Unit (CAU) 417 (DOE/NV, 1999). The CNTA is located in the Hot Creek Valley in Nye County, Nevada, approximately 137 kilometers (85 miles) northeast of Tonopah, Nevada. The CNTA consists of three separate land withdrawal areas commonly referred to as UC-1, UC-3, and UC-4, all of which are accessible to the public. CAU 417 consists of 34 Corrective Action Sites (CASs). Results of the investigation activities completed in 1998 are presented in Appendix D of the Corrective Action Decision Document (DOE/NV, 1999). According to the results, the only Constituent of Concern at the CNTA is total petroleum hydrocarbons (TPH). Of the 34 CASs, corrective action was proposed for 16 sites in 13 CASs. In fiscal year 1999, a Phase I Work Plan was prepared for the construction of a cover on the UC-4 Mud Pit C to gather information on cover constructibility and to perform site management activities. With Nevada Division of Environmental Protection concurrence, the Phase I field activities began in August 1999. A multi-layered cover using a Geosynthetic Clay Liner as an infiltration barrier was constructed over the UC-4 Mud Pit. Some TPH impacted material was relocated, concrete monuments were installed at nine sites, signs warning of site conditions were posted at seven sites, and subsidence markers were installed on the UC-4 Mud Pit C cover. Results from the field activities indicated that the UC-4 Mud Pit C cover design was constructable and could be used at the UC-1 Central Mud Pit (CMP). However, because of the size of the UC-1 CMP this design would be extremely costly. An alternative cover design, a vegetated cover, is proposed for the UC-1 CMP.

  5. Improving transcriptome assembly through error correction of high-throughput sequence reads

    Directory of Open Access Journals (Sweden)

    Matthew D. MacManes

    2013-07-01

    Full Text Available The study of functional genomics, particularly in non-model organisms, has been dramatically improved over the last few years by the use of transcriptomes and RNAseq. While these studies are potentially extremely powerful, a computationally intensive procedure, the de novo construction of a reference transcriptome must be completed as a prerequisite to further analyses. The accurate reference is critically important as all downstream steps, including estimating transcript abundance are critically dependent on the construction of an accurate reference. Though a substantial amount of research has been done on assembly, only recently have the pre-assembly procedures been studied in detail. Specifically, several stand-alone error correction modules have been reported on and, while they have shown to be effective in reducing errors at the level of sequencing reads, how error correction impacts assembly accuracy is largely unknown. Here, we show via use of a simulated and empiric dataset, that applying error correction to sequencing reads has significant positive effects on assembly accuracy, and should be applied to all datasets. A complete collection of commands which will allow for the production of Reptile corrected reads is available at https://github.com/macmanes/error_correction/tree/master/scripts and as File S1.

  6. Correct the Coagulopathy and Scoop It Out: Complete Reversal of Anuric Renal Failure through the Operative Decompression of Extraperitoneal Hematoma-Induced Abdominal Compartment Syndrome

    Directory of Open Access Journals (Sweden)

    Paul B. McBeth

    2012-01-01

    Full Text Available We report two cases of extraperitoneal compression of the intra-abdominal space resulting in abdominal compartment syndrome (ACS with overt renal failure, which responded to operative decompression of the extra-peritoneal spaces. This discussion includes patient presentation, clinical course, diagnosis, interventions, and outcomes. Data was collected from the patient’s electronic medical record and a radiology database. ACS appears to be a rare but completely reversible complication of both retroperitoneal hematoma (RH and rectus sheath hematoma (RSH. In patients with large RH or RSH consideration of intra-abdominal pressure (IAP monitoring combined with aggressive operative drainage after correction of the coagulopathy should be considered. These two cases illustrate how a relatively benign pathology can result in increased IAP, organ failure, and ultimately ACS. Intervention with decompressive laparotomy and evacuation of clot resulted in return to normal physiologic function.

  7. Genetic effects of ionizing radiation

    International Nuclear Information System (INIS)

    Myers, D.K.; Childs, J.D.

    1980-01-01

    The genetic material in living organisms is susceptible to damage from a wide variety of causes including radiation exposure. Most of this damage is repaired by the organism; the residual damage and damage which is not correctly repaired can lead to genetic changes such as mutations. In lower organisms, most offspring carry an unaltered copy of the genetic information that was present in the parental organism, most of the genetic changes which do occur are not caused by natural background radiation, and the increase in frequency of genetic changes after irradiation at low-dose rates is directly proportional to total radiation dose. The same principles appear to be valid in mammals and other higher organisms. About 105 out of every 1000 humans born suffer from some genetic or partly-genetic condition requiring medical attention at some time. It has been estimated that approximately 1 person in every 2000 born carry a deleterious genetic mutation that was caused by the continued exposure of many generations of our ancestors to natural background radiation. On the same basis, it is predicted that the incidence of genetic diseases would be increased to 106 per 1000 in the children and grandchildren of radiation workers who were exposed to 1 rem per year commencing at age 18. However, there was no detectable change in the health and fitness of mice whose male ancestors were repeatedly exposed to high radiation doses up to 900 rem per generation. (auth)

  8. Office of River Protection Integrated Safety Management System Phase 1 Verification Corrective Action Plan

    International Nuclear Information System (INIS)

    CLARK, D.L.

    1999-01-01

    The purpose of this Corrective Action Plan is to demonstrate the OW planned and/or completed actions to implement ISMS as well as prepare for the RPP ISMS Phase II Verification scheduled for August, 1999. This Plan collates implied or explicit ORP actions identified in several key ISMS documents and aligns those actions and responsibilities perceived necessary to appropriately disposition all ISM Phase II preparation activities specific to the ORP. The objective will be to complete or disposition the corrective actions prior to the commencement of the ISMS Phase II Verification. Improvement products/tasks not slated for completion prior to the RPP Phase II verification will be incorporated as corrective actions into the Strategic System Execution Plan (SSEP) Gap Analysis. Many of the business and management systems that were reviewed in the ISMS Phase I verification are being modified to support the ORP transition and are being assessed through the SSEP. The actions and processes identified in the SSEP will support the development of the ORP and continued ISMS implementation as committed to be complete by end of FY-2000

  9. Corrective Action Decision Document/Closure Report for Corrective Action Unit 190: Contaminated Waste Sites, Nevada Test Site, Nevada, Revision 0

    International Nuclear Information System (INIS)

    Alfred Wickline

    2008-01-01

    This Corrective Action Decision Document/Closure Report has been prepared for Corrective Action Unit (CAU) 190, Contaminated Waste Sites, Nevada Test Site, Nevada, in accordance with the Federal Facility Agreement and Consent Order that was agreed to by the State of Nevada; U.S. Department of Energy, Environmental Management; U.S. Department of Defense; and DOE, Legacy Management (1996, as amended January 2007). Corrective Action Unit 190 is comprised of the following four corrective action sites (CASs): (1) 11-02-01, Underground Centrifuge; (2) 11-02-02, Drain Lines and Outfall; (3) 11-59-01, Tweezer Facility Septic System; (4) 14-23-01, LTU-6 Test Area The purpose of this Corrective Action Decision Document/Closure Report is to provide justification and documentation supporting the recommendation for closure of CAU 190 with no further corrective action. To achieve this, corrective action investigation (CAI) activities were performed from March 21 through June 26, 2007. All CAI activities were conducted as set forth in the Corrective Action Investigation Plan for Corrective Action Unit 190: Contaminated Waste Sites, Nevada Test Site, Nevada (NNSA/NSO, 2006). The purpose of the CAI was to fulfill the following data needs as defined during the data quality objective process: (1) Determine whether contaminants of concern (COCs) are present. (2) If COCs are present, determine their nature and extent. (3) Provide sufficient information and data to complete appropriate corrective actions. The CAU 190 dataset from the investigation results was evaluated based on the data quality indicator parameters. This evaluation demonstrated the quality and acceptability of the dataset for use in fulfilling the data quality objective data needs

  10. Anticipatory phase correction in sensorimotor synchronization.

    Science.gov (United States)

    Repp, Bruno H; Moseley, Gordon P

    2012-10-01

    Studies of phase correction in sensorimotor synchronization often introduce timing perturbations that are unpredictable with regard to direction, magnitude, and position in the stimulus sequence. If participants knew any or all of these parameters in advance, would they be able to anticipate perturbations and thus regain synchrony more quickly? In Experiment 1, we asked musically trained participants to tap in synchrony with short isochronous tone sequences containing a phase shift (PS) of -100, -40, 40, or 100 ms and provided advance information about its direction, position, or both (but not about its magnitude). The first two conditions had little effect, but in the third condition participants shifted their tap in anticipation of the PS, though only by about ±40 ms on average. The phase correction response to the residual PS was also enhanced. In Experiment 2, we provided complete advance information about PSs of various magnitudes either at the time of the immediately preceding tone ("late") or at the time of the tone one position back ("early") while also varying sequence tempo. Anticipatory phase correction was generally conservative and was impeded by fast tempo in the "late" condition. At fast tempi in both conditions, advancing a tap was more difficult than delaying a tap. The results indicate that temporal constraints on anticipatory phase correction resemble those on reactive phase correction. While the latter is usually automatic, this study shows that phase correction can also be controlled consciously for anticipatory purposes. Copyright © 2011 Elsevier B.V. All rights reserved.

  11. Manifold corrections on spinning compact binaries

    International Nuclear Information System (INIS)

    Zhong Shuangying; Wu Xin

    2010-01-01

    This paper deals mainly with a discussion of three new manifold correction methods and three existing ones, which can numerically preserve or correct all integrals in the conservative post-Newtonian Hamiltonian formulation of spinning compact binaries. Two of them are listed here. One is a new momentum-position scaling scheme for complete consistency of both the total energy and the magnitude of the total angular momentum, and the other is the Nacozy's approach with least-squares correction of the four integrals including the total energy and the total angular momentum vector. The post-Newtonian contributions, the spin effects, and the classification of orbits play an important role in the effectiveness of these six manifold corrections. They are all nearly equivalent to correct the integrals at the level of the machine epsilon for the pure Kepler problem. Once the third-order post-Newtonian contributions are added to the pure orbital part, three of these corrections have only minor effects on controlling the errors of these integrals. When the spin effects are also included, the effectiveness of the Nacozy's approach becomes further weakened, and even gets useless for the chaotic case. In all cases tested, the new momentum-position scaling scheme always shows the optimal performance. It requires a little but not much expensive additional computational cost when the spin effects exist and several time-saving techniques are used. As an interesting case, the efficiency of the correction to chaotic eccentric orbits is generally better than one to quasicircular regular orbits. Besides this, the corrected fast Lyapunov indicators and Lyapunov exponents of chaotic eccentric orbits are large as compared with the uncorrected counterparts. The amplification is a true expression of the original dynamical behavior. With the aid of both the manifold correction added to a certain low-order integration algorithm as a fast and high-precision device and the fast Lyapunov

  12. Power and type I error results for a bias-correction approach recently shown to provide accurate odds ratios of genetic variants for the secondary phenotypes associated with primary diseases.

    Science.gov (United States)

    Wang, Jian; Shete, Sanjay

    2011-11-01

    We recently proposed a bias correction approach to evaluate accurate estimation of the odds ratio (OR) of genetic variants associated with a secondary phenotype, in which the secondary phenotype is associated with the primary disease, based on the original case-control data collected for the purpose of studying the primary disease. As reported in this communication, we further investigated the type I error probabilities and powers of the proposed approach, and compared the results to those obtained from logistic regression analysis (with or without adjustment for the primary disease status). We performed a simulation study based on a frequency-matching case-control study with respect to the secondary phenotype of interest. We examined the empirical distribution of the natural logarithm of the corrected OR obtained from the bias correction approach and found it to be normally distributed under the null hypothesis. On the basis of the simulation study results, we found that the logistic regression approaches that adjust or do not adjust for the primary disease status had low power for detecting secondary phenotype associated variants and highly inflated type I error probabilities, whereas our approach was more powerful for identifying the SNP-secondary phenotype associations and had better-controlled type I error probabilities. © 2011 Wiley Periodicals, Inc.

  13. Corrective Action Decision Document/Closure Report for Corrective Action Unit 137: Waste Disposal Sites, Nevada Test Site, Nevada (Revision 0) with ROTC 1 and 2

    Energy Technology Data Exchange (ETDEWEB)

    Krauss, Mark J

    2007-03-01

    The purpose of this Corrective Action Decision Document/Closure Report is to provide justification and documentation supporting the recommendation for closure of CAU 137 with no further corrective action. To achieve this, corrective action investigation (CAI) activities were performed from February 28 through August 17, 2006, as set forth in the Corrective Action Investigation Plan for Corrective Action Unit 137: Waste Disposal Sites. The purpose of the CAI was to fulfill the following data needs as defined during the data quality objective process: • Determine whether contaminants of concern (COCs) are present. • If COCs are present, determine their nature and extent. • Provide sufficient information and data to complete appropriate corrective actions. ROTC-1: Downgrade FFACO UR at CAU 137, CAS 07-23-02, Radioactive Waste Disposal Site to an Administrative UR. ROTC-2: Downgrade FFACO UR at CAU 137, CAS 01-08-01, Waste Disposal Site to an Administrative UR.

  14. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. LEI ZHANG. Articles written in Journal of Genetics. Volume 93 Issue 3 December 2014 pp 699-707 Research Article. The complete mitochondrial genome of the yellow-browed bunting, Emberiza chrysophrys (Passeriformes: Emberizidae), and phylogenetic relationships within the ...

  15. Mass corrections in string theory and lattice field theory

    International Nuclear Information System (INIS)

    Del Debbio, Luigi; Kerrane, Eoin; Russo, Rodolfo

    2009-01-01

    Kaluza-Klein (KK) compactifications of higher-dimensional Yang-Mills theories contain a number of 4-dimensional scalars corresponding to the internal components of the gauge field. While at tree level the scalar zero modes are massless, it is well known that quantum corrections make them massive. We compute these radiative corrections at 1 loop in an effective field theory framework, using the background field method and proper Schwinger-time regularization. In order to clarify the proper treatment of the sum over KK modes in the effective field theory approach, we consider the same problem in two different UV completions of Yang-Mills: string theory and lattice field theory. In both cases, when the compactification radius R is much bigger than the scale of the UV completion (R>>√(α ' ), a), we recover a mass renormalization that is independent of the UV scale and agrees with the one derived in the effective field theory approach. These results support the idea that the value of the mass corrections is, in this regime, universal for any UV completion that respects locality and gauge invariance. The string analysis suggests that this property holds also at higher loops. The lattice analysis suggests that the mass of the adjoint scalars appearing in N=2, 4 super Yang-Mills is highly suppressed, even if the lattice regularization breaks all supersymmetries explicitly. This is due to an interplay between the higher-dimensional gauge invariance and the degeneracy of bosonic and fermionic degrees of freedom.

  16. A Microgenetic/Cross-Sectional Study of Matrix Completion: Comparing Short-Term and Long-Term Change.

    Science.gov (United States)

    Siegler, Robert S.; Svetina, Matija

    2002-01-01

    This study examined 6- to 8-year-old Slovenian children's acquisition of matrix completion proficiency and compared microgenetic and age-related changes on the task. Microgenetic analyses indicated that: variability of children's errors increased before they discovered the correct strategy, the correct strategy became dominant shortly after…

  17. Corrective Action Decision Document/Closure Report for Corrective Action Unit 106: Area 5, 11 Frenchman Flat Atmospheric Sites, Nevada National Security Site, Nevada

    International Nuclear Information System (INIS)

    Matthews, Patrick; Peterson, Dawn

    2011-01-01

    Corrective Action Unit 106 comprises four corrective action sites (CASs): (1) 05-20-02, Evaporation Pond; (2) 05-23-05, Atmospheric Test Site - Able; (3) 05-45-04, 306 GZ Rad Contaminated Area; (4) 05-45-05, 307 GZ Rad Contaminated Area. The purpose of this CADD/CR is to provide justification and documentation supporting the recommendation that no further corrective action is needed for CAU 106 based on the implementation of corrective actions. The corrective action of clean closure was implemented at CASs 05-45-04 and 05-45-05, while no corrective action was necessary at CASs 05-20-02 and 05-23-05. Corrective action investigation (CAI) activities were performed from October 20, 2010, through June 1, 2011, as set forth in the Corrective Action Investigation Plan for Corrective Action Unit 106: Areas 5, 11 Frenchman Flat Atmospheric Sites. The approach for the CAI was divided into two facets: investigation of the primary release of radionuclides, and investigation of other releases (mechanical displacement and chemical releases). The purpose of the CAI was to fulfill data needs as defined during the data quality objective (DQO) process. The CAU 106 dataset of investigation results was evaluated based on a data quality assessment. This assessment demonstrated the dataset is complete and acceptable for use in fulfilling the DQO data needs. Investigation results were evaluated against final action levels (FALs) established in this document. A radiological dose FAL of 25 millirem per year was established based on the Industrial Area exposure scenario (2,250 hours of annual exposure). The only radiological dose exceeding the FAL was at CAS 05-45-05 and was associated with potential source material (PSM). It is also assumed that additional PSM in the form of depleted uranium (DU) and DU-contaminated debris at CASs 05-45-04 and 05-45-05 exceed the FAL. Therefore, corrective actions were undertaken at these CASs that consisted of removing PSM and collecting verification

  18. Corrective Action Plan for Corrective Action Unit 261: Area 25 Test Cell A Leachfield System, Nevada Test Site, Nevada

    Energy Technology Data Exchange (ETDEWEB)

    T. M. Fitzmaurice

    2000-08-01

    This Corrective Action Plan (CAP) has been prepared for the Corrective Action Unit (CAU)261 Area 25 Test Cell A Leachfield System in accordance with the Federal Facility and Consent Order (Nevada Division of Environmental Protection [NDEP] et al., 1996). This CAP provides the methodology for implementing the approved corrective action alternative as listed in the Corrective Action Decision Document (U.S. Department of Energy, Nevada Operations Office, 1999). Investigation of CAU 261 was conducted from February through May of 1999. There were no Constituents of Concern (COCs) identified at Corrective Action Site (CAS) 25-05-07 Acid Waste Leach Pit (AWLP). COCs identified at CAS 25-05-01 included diesel-range organics and radionuclides. The following closure actions will be implemented under this plan: Because COCs were not found at CAS 25-05-07 AWLP, no action is required; Removal of septage from the septic tank (CAS 25-05-01), the distribution box and the septic tank will be filled with grout; Removal of impacted soils identified near the initial outfall area; and Upon completion of this closure activity and approval of the Closure Report by NDEP, administrative controls, use restrictions, and site postings will be used to prevent intrusive activities at the site.

  19. Genetic predisposition toward suicidal ideation in patients with acute coronary syndrome.

    Science.gov (United States)

    Kang, Hee-Ju; Bae, Kyung-Yeol; Kim, Sung-Wan; Shin, Il-Seon; Hong, Young Joon; Ahn, Youngkeun; Jeong, Myung Ho; Yoon, Jin-Sang; Kim, Jae-Min

    2017-11-07

    The genetic predisposition toward suicidal ideation has been explored to identify subgroups at high risk and to prevent suicide. Acute coronary syndrome (ACS) is associated with an increased risk of suicide, but few studies have explored the genetic predisposition toward suicide in ACS populations. Therefore, this longitudinal study explored the genetic predisposition toward suicidal ideation in ACS patients. In total, of 969 patients within 2 weeks after ACS, 711 were followed at 1 year after ACS. Suicidal ideation was evaluated with the relevant items on the Montgomery-Åsberg Depression Rating Scale. Ten genetic polymorphisms associated with serotonergic systems, neurotrophic factors, carbon metabolism, and inflammatory cytokines were examined. Associations between genetic polymorphisms and suicidal ideation within 2 weeks and 1 year of ACS were investigated using logistic regression models. The 5-HTTLPR s allele was significantly associated with suicidal ideation within 2 weeks of ACS after adjusting for covariates and after the Bonferroni correction. TNF-α -308 G/A , IL-1β -511 C/T , and IL-1β + 3953C/T were significantly associated with suicidal ideation within 2 weeks after ACS, but these associations did not reach significance after the Bonferroni correction in unadjusted analyses and after adjusting for covariance. However, no significant association between genetic polymorphisms and suicidal ideation was found at 1 year. Genetic predisposition, 5-HTTLPR s allele in particular, may confer susceptibility to suicidal ideation in ACS patients during the acute phase of ACS.

  20. No influence of Indy on lifespan in Drosophila after correction for genetic and cytoplasmic background effects.

    Directory of Open Access Journals (Sweden)

    Janne M Toivonen

    2007-06-01

    Full Text Available To investigate whether alterations in mitochondrial metabolism affect longevity in Drosophila melanogaster, we studied lifespan in various single gene mutants, using inbred and outbred genetic backgrounds. As positive controls we included the two most intensively studied mutants of Indy, which encodes a Drosophila Krebs cycle intermediate transporter. It has been reported that flies heterozygous for these Indy mutations, which lie outside the coding region, show almost a doubling of lifespan. We report that only one of the two mutants lowers mRNA levels, implying that the lifespan extension observed is not attributable to the Indy mutations themselves. Moreover, neither Indy mutation extended lifespan in female flies in any genetic background tested. In the original genetic background, only the Indy mutation associated with altered RNA expression extended lifespan in male flies. However, this effect was abolished by backcrossing into standard outbred genetic backgrounds, and was associated with an unidentified locus on the X chromosome. The original Indy line with long-lived males is infected by the cytoplasmic symbiont Wolbachia, and the longevity of Indy males disappeared after tetracycline clearance of this endosymbiont. These findings underscore the critical importance of standardisation of genetic background and of cytoplasm in genetic studies of lifespan, and show that the lifespan extension previously claimed for Indy mutants was entirely attributable to confounding variation from these two sources. In addition, we saw no effects on lifespan of expression knockdown of the Indy orthologues nac-2 and nac-3 in the nematode Caenorhabditis elegans.

  1. Theory and Practice in Quantitative Genetics

    DEFF Research Database (Denmark)

    Posthuma, Daniëlle; Beem, A Leo; de Geus, Eco J C

    2003-01-01

    With the rapid advances in molecular biology, the near completion of the human genome, the development of appropriate statistical genetic methods and the availability of the necessary computing power, the identification of quantitative trait loci has now become a realistic prospect for quantitative...... geneticists. We briefly describe the theoretical biometrical foundations underlying quantitative genetics. These theoretical underpinnings are translated into mathematical equations that allow the assessment of the contribution of observed (using DNA samples) and unobserved (using known genetic relationships......) genetic variation to population variance in quantitative traits. Several statistical models for quantitative genetic analyses are described, such as models for the classical twin design, multivariate and longitudinal genetic analyses, extended twin analyses, and linkage and association analyses. For each...

  2. Corrective Action Decision Document/Closure Report for Corrective Action Unit 550: Smoky Contamination Area Nevada National Security Site, Nevada, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Matthews, Patrick K. [Navarro-Intera, LLC (N-I), Las Vegas, NV (United States)

    2015-02-01

    This Corrective Action Decision Document/Closure Report presents information supporting the closure of Corrective Action Unit (CAU) 550: Smoky Contamination Area, Nevada National Security Site, Nevada. CAU 550 includes 19 corrective action sites (CASs), which consist of one weapons-related atmospheric test (Smoky), three safety experiments (Ceres, Oberon, Titania), and 15 debris sites (Table ES-1). The CASs were sorted into the following study groups based on release potential and technical similarities: • Study Group 1, Atmospheric Test • Study Group 2, Safety Experiments • Study Group 3, Washes • Study Group 4, Debris The purpose of this document is to provide justification and documentation supporting the conclusion that no further corrective action is needed for CAU 550 based on implementation of the corrective actions listed in Table ES-1. Corrective action investigation (CAI) activities were performed between August 2012 and October 2013 as set forth in the Corrective Action Investigation Plan for Corrective Action Unit 550: Smoky Contamination Area; and in accordance with the Soils Activity Quality Assurance Plan. The approach for the CAI was to investigate and make data quality objective (DQO) decisions based on the types of releases present. The purpose of the CAI was to fulfill data needs as defined during the DQO process. The CAU 550 dataset of investigation results was evaluated based on a data quality assessment. This assessment demonstrated the dataset is complete and acceptable for use in fulfilling the DQO data needs.

  3. An integrated system for genetic analysis

    Directory of Open Access Journals (Sweden)

    Duan Xiao

    2006-04-01

    Full Text Available Abstract Background Large-scale genetic mapping projects require data management systems that can handle complex phenotypes and detect and correct high-throughput genotyping errors, yet are easy to use. Description We have developed an Integrated Genotyping System (IGS to meet this need. IGS securely stores, edits and analyses genotype and phenotype data. It stores information about DNA samples, plates, primers, markers and genotypes generated by a genotyping laboratory. Data are structured so that statistical genetic analysis of both case-control and pedigree data is straightforward. Conclusion IGS can model complex phenotypes and contain genotypes from whole genome association studies. The database makes it possible to integrate genetic analysis with data curation. The IGS web site http://bioinformatics.well.ox.ac.uk/project-igs.shtml contains further information.

  4. Complete mitochondrial genome of the Freshwater Catfish Rita rita (Siluriformes, Bagridae).

    Science.gov (United States)

    Lashari, Punhal; Laghari, Muhammad Younis; Xu, Peng; Zhao, Zixia; Jiang, Li; Narejo, Naeem Tariq; Deng, Yulin; Sun, Xiaowen; Zhang, Yan

    2015-01-01

    The complete mitochondrial genome of Catfish, Rita rita, was isolated by LA PCR (TakaRa LAtaq, Dalian, China); and sequenced by Sanger's method to obtain the complete mitochondrial genome, which is listed Critically Endangered and Red Listed species. The complete mitogenome was 16,449 bp in length and contains 13 typical vertebrate protein-coding genes, 2 rRNA and 22 tRNA genes. The whole genome base composition was estimated to be 33.40% A, 27.43% C, 14.26% G and 24.89% T. The complete mitochondrial genome of catfish, Rita rita provides the basis for genetic breeding and conservation studies.

  5. Corrective Action Decision Document/Closure Report for Corrective Action Unit 232: Area 25 Sewage Lagoons, Nevada Test Site, Nevada

    International Nuclear Information System (INIS)

    US Department of Energy Nevada Operations Office

    1999-01-01

    This Corrective Action Decision Document/Closure Report (CADD/CR) has been prepared for Corrective Action Unit (CAU) 232, Area 25 Sewage Lagoons, in accordance with the Federal Facility Agreement and Consent Order. Located at the Nevada Test Site in Nevada, approximately 65 miles northwest of Las Vegas, CAU 232 is comprised of Corrective Action Site 25-03-01, Sewage Lagoon. This CADD/CR identifies and rationalizes the U.S. Department of Energy, Nevada Operations Office's (DOE/NV's) recommendation that no corrective action is deemed necessary for CAU 232. The Corrective Action Decision Document and Closure Report have been combined into one report because sample data collected during the July 1999 corrective action investigation (CAI) activities disclosed no evidence of contamination at the site. Contaminants of potential concern (COPCs) addressed during the CAI included total volatile organic compounds, total semivolatile organic compounds, total Resource Conservation and Recovery Act metals, total pesticides, total herbicides, total petroleum hydrocarbons (gasoline and diesel/oil range), polychlorinated biphenyls, isotopic uranium, isotopic plutonium, strontium-90, and gamma-emitting radionuclides. The data confirmed that none of the COPCs identified exceeded preliminary action levels outlined in the CAIP; therefore, no corrective actions were necessary for CAU 232. After the CAI, best management practice activities were completed and included installation of a fence and signs to limit access to the lagoons, cementing Manhole No. 2 and the diverter box, and closing off influent and effluent ends of the sewage lagoon piping. As a result of the CAI, the DOE/NV recommended that: (1) no further actions were required; (2) no Corrective Action Plan would be required; and (3) no use restrictions were required to be placed on the CAU

  6. Hypopituitarism in Children. Modern Laboratory and Genetic Diagnosis

    Directory of Open Access Journals (Sweden)

    Ye.V. Hloba

    2016-04-01

    Full Text Available The lecture presents the current international guidelines on the diagnosis of hypopituitarism in children, in particular the rules of stimulation tests for the diagnosis of growth hormone deficiency, secondary hypogonadism and hypocorticism. It is recommended to use the anti-Müllerian hormone and inhibin B to diagnose different forms of hypogonadism. Genetic methods are also recommended to make a correct diagnosis, to prescribe a proper treatment and to provide a medical and genetic counseling of family members.

  7. Comprehension and Data-Sharing Behavior of Direct-To-Consumer Genetic Test Customers.

    Science.gov (United States)

    McGrath, Scott P; Coleman, Jason; Najjar, Lotfollah; Fruhling, Ann; Bastola, Dhundy R

    2016-01-01

    The aim of this study was to evaluate current direct-to-consumer (DTC) genetic customers' ability to interpret and comprehend test results and to determine if honest brokers are needed. One hundred and twenty-two customers of the DTC genetic testing company 23andMe were polled in an online survey. The subjects were asked about their personal test results and to interpret the results of two mock test cases (type 2 diabetes and multiple sclerosis), where results were translated into disease probability for an individual compared to the public. When asked to evaluate the risk, 72.1% correctly assessed the first case and 77% were correct on the second case. Only 23.8% of those surveyed were able to interpret both cases correctly. x03C7;2 and logistic regression were used to interpret the results. Participants who took the time to read the DTC test-provided supplemental material were 3.93 times (p = 0.040) more likely to correctly interpret the test results than those who did not. The odds for correctly interpreting the test cases were 3.289 times (p = 0.011) higher for those who made more than USD 50,000 than those who made less. Survey results were compared to the Health Information National Trends Survey (HINTS) phase 4 cycle 3 data to evaluate national trends. Most of the subjects were able to correctly interpret the test cases, yet a majority did not share their results with a health-care professional. As the market for DTC genetic testing grows, test comprehension will become more critical. Involving more health professionals in this process may be necessary to ensure proper interpretations. © 2016 S. Karger AG, Basel.

  8. 2014 Well Completion Report for Corrective Action Unit 447 Project Shoal Area Churchill County, Nevada October 2015

    Energy Technology Data Exchange (ETDEWEB)

    Findlay, Rick [US Department of Energy, Washington, DC (United States).Office of Legacy Management

    2015-11-01

    This report summarizes the drilling program conducted by the U.S. Department of Energy (DOE) Office of Legacy Management at the Project Shoal Area (Shoal) Subsurface Corrective Action Unit 447 in Churchill County, Nevada. Shoal was the location of an underground nuclear test conducted on October 26, 1963, as part of the Vela Uniform program sponsored jointly by the U.S. Department of Defense and the U.S. Atomic Energy Commission (a predecessor to DOE). The test consisted of detonating a 12-kiloton nuclear device in granitic rock at a depth of approximately 1,211 feet (ft) below ground surface (bgs) (AEC 1964). The corrective action strategy for the site is focused on revising the site conceptual model and evaluating the adequacy of the monitoring well network at the site. Field activities associated with the project were conducted in accordance with the Federal Facility Agreement and Consent Order (FFACO 1996, as amended) and applicable Nevada Division of Environmental Protection (NDEP) policies and regulations.

  9. Lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubes

    Science.gov (United States)

    Naphade, Swati; Sharma, Jay; Chevronnay, Héloïse P. Gaide; Shook, Michael A.; Yeagy, Brian A.; Rocca, Celine J.; Ur, Sarah N.; Lau, Athena J.; Courtoy, Pierre J.; Cherqui, Stephanie

    2014-01-01

    Despite controversies on the potential of hematopoietic stem cells (HSCs) to promote tissue repair, we previously showed that HSC transplantation could correct cystinosis, a multi-systemic lysosomal storage disease, caused by a defective lysosomal membrane cystine transporter, cystinosin (CTNS). Addressing the cellular mechanisms, we here report vesicular cross-correction after HSC differentiation into macrophages. Upon co-culture with cystinotic fibroblasts, macrophages produced tunneling nanotubes (TNTs) allowing transfer of cystinosin-bearing lysosomes into Ctns-deficient cells, which exploited the same route to retrogradely transfer cystine-loaded lysosomes to macrophages, providing a bidirectional correction mechanism. TNT formation was enhanced by contact with diseased cells. In vivo, HSCs grafted to cystinotic kidneys also generated nanotubular extensions resembling invadopodia that crossed the dense basement membranes and delivered cystinosin into diseased proximal tubular cells. This is the first report of correction of a genetic lysosomal defect by bidirectional vesicular exchange via TNTs and suggests broader potential for HSC transplantation for other disorders due to defective vesicular proteins. PMID:25186209

  10. Office of River Protection Integrated Safety Management System Phase 1 Verification Corrective Action Plan; FINAL

    International Nuclear Information System (INIS)

    CLARK, D.L.

    1999-01-01

    The purpose of this Corrective Action Plan is to demonstrate the OW planned and/or completed actions to implement ISMS as well as prepare for the RPP ISMS Phase II Verification scheduled for August, 1999. This Plan collates implied or explicit ORP actions identified in several key ISMS documents and aligns those actions and responsibilities perceived necessary to appropriately disposition all ISM Phase II preparation activities specific to the ORP. The objective will be to complete or disposition the corrective actions prior to the commencement of the ISMS Phase II Verification. Improvement products/tasks not slated for completion prior to the RPP Phase II verification will be incorporated as corrective actions into the Strategic System Execution Plan (SSEP) Gap Analysis. Many of the business and management systems that were reviewed in the ISMS Phase I verification are being modified to support the ORP transition and are being assessed through the SSEP. The actions and processes identified in the SSEP will support the development of the ORP and continued ISMS implementation as committed to be complete by end of FY-2000

  11. Influence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among clinicians.

    Science.gov (United States)

    Lowstuter, Katrina J; Sand, Sharon; Blazer, Kathleen R; MacDonald, Deborah J; Banks, Kimberly C; Lee, Carol A; Schwerin, Barbara U; Juarez, Margaret; Uman, Gwen C; Weitzel, Jeffrey N

    2008-09-01

    To describe nongenetics clinicians' perceptions and knowledge of cancer genetics and laws prohibiting genetic discrimination, attitudes toward the use of cancer genetic testing, and referral practices. Invitations to participate were sent to a random stratified sample of California Medical Association members and to all members of California Association of Nurse Practitioners and California Latino Medical Association. Responders in active practice were eligible and completed a 47-item survey. There were 1181 qualified participants (62% physicians). Although 96% viewed genetic testing as beneficial for their patients, 75% believed fear of genetic discrimination would cause patients to decline testing. More than 60% were not aware of federal or California laws prohibiting health insurance discrimination--concern about genetic discrimination was selected as a reason for nonreferral by 11%. A positive attitude toward genetic testing was the strongest predictor of referral (odds ratio: 3.55 [95% confidence interval: 2.24-5.63], P genetic discrimination, the less likely a participant was to refer (odds ratio: 0.72 [95% confidence interval: 0.518-0.991], P genetic discrimination law was associated with comfort recommending (odds ratio: 1.18 [95% confidence interval: 1.11-1.25], P genetic discrimination and knowledge deficits may be barriers to cancer genetics referrals. Clinician education may help promote access to cancer screening and prevention.

  12. Optimal proximity correction: application for flash memory design

    Science.gov (United States)

    Chen, Y. O.; Huang, D. L.; Sung, K. T.; Chiang, J. J.; Yu, M.; Teng, F.; Chu, Lung; Rey, Juan C.; Bernard, Douglas A.; Li, Jiangwei; Li, Junling; Moroz, V.; Boksha, Victor V.

    1998-06-01

    Proximity Correction is the technology for which the most of IC manufacturers are committed already. The final intended result of correction is affected by many factors other than the optical characteristics of the mask-stepper system, such as photoresist exposure, post-exposure bake and development parameters, etch selectivity and anisotropy, and underlying topography. The most advanced industry and research groups already reported immediate need to consider wafer topography as one of the major components during a Proximity Correction procedure. In the present work we are discussing the corners rounding effect (which eventually cause electrical leakage) observed for the elements of Poly2 layer for a Flash Memory Design. It was found that the rounding originated by three- dimensional effects due to variation of photoresist thickness resulting from the non-planar substrate. Our major goal was to understand the reasons and correct corner rounding. As a result of this work highly effective layout correction methodology was demonstrated and manufacturable Depth Of Focus was achieved. Another purpose of the work was to demonstrate complete integration flow for a Flash Memory Design based on photolithography; deposition/etch; ion implantation/oxidation/diffusion; and device simulators.

  13. Third-order non-Coulomb correction to the S-wave quarkonium wave functions at the origin

    International Nuclear Information System (INIS)

    Beneke, M.; Kiyo, Y.; Schuller, K.

    2008-01-01

    We compute the third-order correction to the S-wave quarkonium wave functions |ψ n (0)| 2 at the origin from non-Coulomb potentials in the effective non-relativistic Lagrangian. Together with previous results on the Coulomb correction and the ultrasoft correction computed in a companion paper, this completes the third-order calculation up to a few unknown matching coefficients. Numerical estimates of the new correction for bottomonium and toponium are given

  14. One hundred years of the Journal of Genetics

    Indian Academy of Sciences (India)

    The Journal of Genetics completed a hundred years this November, having thereby lived ... made possible by the tremendous advances in genetics over the past one hundred years—refocusses attention on the key question of the genesis and ...

  15. Genetic Parameters of Common Wheat in Nepal

    OpenAIRE

    Bal Krishna Joshi; Dhruba Bahadur Thapa; Madan Raj Bhatta

    2015-01-01

    Knowledge on variation within traits and their genetics are prerequisites in crop improvement program. Thus, in present paper we aimed to estimate genetic and environmental indices of common wheat genotypes. For the purpose, eight quantitative traits were measured from 30 wheat genotypes, which were in randomized complete block design with 3 replicates. Components of variance and covariance were estimated along with heritability, genetic gain, realized heritability, coheritability and correla...

  16. Genetic specificity of face recognition.

    Science.gov (United States)

    Shakeshaft, Nicholas G; Plomin, Robert

    2015-10-13

    Specific cognitive abilities in diverse domains are typically found to be highly heritable and substantially correlated with general cognitive ability (g), both phenotypically and genetically. Recent twin studies have found the ability to memorize and recognize faces to be an exception, being similarly heritable but phenotypically substantially uncorrelated both with g and with general object recognition. However, the genetic relationships between face recognition and other abilities (the extent to which they share a common genetic etiology) cannot be determined from phenotypic associations. In this, to our knowledge, first study of the genetic associations between face recognition and other domains, 2,000 18- and 19-year-old United Kingdom twins completed tests assessing their face recognition, object recognition, and general cognitive abilities. Results confirmed the substantial heritability of face recognition (61%), and multivariate genetic analyses found that most of this genetic influence is unique and not shared with other cognitive abilities.

  17. Tablet computers and forensic and correctional psychological assessment: A randomized controlled study.

    Science.gov (United States)

    King, Christopher M; Heilbrun, Kirk; Kim, Na Young; McWilliams, Kellie; Phillips, Sarah; Barbera, Jessie; Fretz, Ralph

    2017-10-01

    Mobile computing technology presents various possibilities and challenges for psychological assessment. Within forensic and correctional psychology, assessment of justice-involved persons facilitated by such technology has not been empirically examined. Accordingly, this randomized controlled experiment involved administering questionnaires about risk-needs, treatment readiness, and computerized technology opinions to a large (N = 212) and diverse sample of individuals under custodial correctional supervision using either a tablet computer or traditional paper-and-pencil materials. Results revealed that participants in the paper-and-pencil condition completed the packet of questionnaires faster but omitted items more frequently. Older participants and those with lower levels of education tended to take longer to complete the tablet-administrated measures. The tablet format was rated as more usable irrespective of demographic and personal characteristics, and most participants across the 2 conditions indicated that they would prefer to use computerized technology to complete psychological testing. Administration format did not have a clear effect on attitudes toward correctional rehabilitation services. Noteworthy for researchers is the substantial time saved and absence of practical problems with the tablet condition. Implications for practitioners include the general usability of the devices, their appeal to incarcerated persons, and the potential for tablets to facilitate clinical and administrative tasks with corrections clients. Considering the novel nature of this study, its promising results, and its limitations, future research in this area is warranted. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  18. Open quantum systems and error correction

    Science.gov (United States)

    Shabani Barzegar, Alireza

    Quantum effects can be harnessed to manipulate information in a desired way. Quantum systems which are designed for this purpose are suffering from harming interaction with their surrounding environment or inaccuracy in control forces. Engineering different methods to combat errors in quantum devices are highly demanding. In this thesis, I focus on realistic formulations of quantum error correction methods. A realistic formulation is the one that incorporates experimental challenges. This thesis is presented in two sections of open quantum system and quantum error correction. Chapters 2 and 3 cover the material on open quantum system theory. It is essential to first study a noise process then to contemplate methods to cancel its effect. In the second chapter, I present the non-completely positive formulation of quantum maps. Most of these results are published in [Shabani and Lidar, 2009b,a], except a subsection on geometric characterization of positivity domain of a quantum map. The real-time formulation of the dynamics is the topic of the third chapter. After introducing the concept of Markovian regime, A new post-Markovian quantum master equation is derived, published in [Shabani and Lidar, 2005a]. The section of quantum error correction is presented in three chapters of 4, 5, 6 and 7. In chapter 4, we introduce a generalized theory of decoherence-free subspaces and subsystems (DFSs), which do not require accurate initialization (published in [Shabani and Lidar, 2005b]). In Chapter 5, we present a semidefinite program optimization approach to quantum error correction that yields codes and recovery procedures that are robust against significant variations in the noise channel. Our approach allows us to optimize the encoding, recovery, or both, and is amenable to approximations that significantly improve computational cost while retaining fidelity (see [Kosut et al., 2008] for a published version). Chapter 6 is devoted to a theory of quantum error correction (QEC

  19. Corrective Action Plan for Corrective Action Unit 261: Area 25 Test Cell A Leachfield System, Nevada Test Site, Nevada; TOPICAL

    International Nuclear Information System (INIS)

    T. M. Fitzmaurice

    2000-01-01

    This Corrective Action Plan (CAP) has been prepared for the Corrective Action Unit (CAU)261 Area 25 Test Cell A Leachfield System in accordance with the Federal Facility and Consent Order (Nevada Division of Environmental Protection[NDEP] et al., 1996). This CAP provides the methodology for implementing the approved corrective action alternative as listed in the Corrective Action Decision Document (U.S. Department of Energy, Nevada Operations Office, 1999). Investigation of CAU 261 was conducted from February through May of 1999. There were no Constituents of Concern (COCs) identified at Corrective Action Site (CAS) 25-05-07 Acid Waste Leach Pit (AWLP). COCs identified at CAS 25-05-01 included diesel-range organics and radionuclides. The following closure actions will be implemented under this plan: Because COCs were not found at CAS 25-05-07 AWLP, no action is required; Removal of septage from the septic tank (CAS 25-05-01), the distribution box and the septic tank will be filled with grout; Removal of impacted soils identified near the initial outfall area; and Upon completion of this closure activity and approval of the Closure Report by NDEP, administrative controls, use restrictions, and site postings will be used to prevent intrusive activities at the site

  20. Cas9-nickase-mediated genome editing corrects hereditary tyrosinemia in rats.

    Science.gov (United States)

    Shao, Yanjiao; Wang, Liren; Guo, Nana; Wang, Shengfei; Yang, Lei; Li, Yajing; Wang, Mingsong; Yin, Shuming; Han, Honghui; Zeng, Li; Zhang, Ludi; Hui, Lijian; Ding, Qiurong; Zhang, Jiqin; Geng, Hongquan; Liu, Mingyao; Li, Dali

    2018-05-04

    Hereditary tyrosinemia type I (HTI) is a metabolic genetic disorder caused by mutation of fumarylacetoacetate hydrolase (FAH). Because of the accumulation of toxic metabolites, HTI causes severe liver cirrhosis, liver failure, and even hepatocellular carcinoma. HTI is an ideal model for gene therapy, and several strategies have been shown to ameliorate HTI symptoms in animal models. Although CRISPR/Cas9-mediated genome editing is able to correct the Fah mutation in mouse models, WT Cas9 induces numerous undesired mutations that have raised safety concerns for clinical applications. To develop a new method for gene correction with high fidelity, we generated a Fah mutant rat model to investigate whether Cas9 nickase (Cas9n)-mediated genome editing can efficiently correct the Fah First, we confirmed that Cas9n rarely induces indels in both on-target and off-target sites in cell lines. Using WT Cas9 as a positive control, we delivered Cas9n and the repair donor template/single guide (sg)RNA through adenoviral vectors into HTI rats. Analyses of the initial genome editing efficiency indicated that only WT Cas9 but not Cas9n causes indels at the on-target site in the liver tissue. After receiving either Cas9n or WT Cas9-mediated gene correction therapy, HTI rats gained weight steadily and survived. Fah-expressing hepatocytes occupied over 95% of the liver tissue 9 months after the treatment. Moreover, CRISPR/Cas9-mediated gene therapy prevented the progression of liver cirrhosis, a phenotype that could not be recapitulated in the HTI mouse model. These results strongly suggest that Cas9n-mediated genome editing is a valuable and safe gene therapy strategy for this genetic disease. © 2018 by The American Society for Biochemistry and Molecular Biology, Inc.

  1. Closure Report for Corrective Action Unit 417: Central Nevada Test Area Surface, Nevada

    International Nuclear Information System (INIS)

    Campbell, K.B.

    2001-11-01

    This Closure Report provides the documentation for closure of the Central Nevada Test Area (CNTA) surface Corrective Action Unit (CAU) 417. The CNTA is located in Hot Creek Valley in Nye County, Nevada, approximately 22.5 kilometers (14 miles) west of U.S. State Highway 6 near the Moores Station historical site, and approximately 137 kilometers (85 miles) northeast of Tonopah, Nevada. The CNTA consists of three separate land withdrawal areas commonly referred to as UC-1, UC-3, and UC-4, all of which are accessible to the public. A nuclear device for Project Faultless was detonated approximately 975 meters (3,200 feet) below ground surface on January 19, 1968, in emplacement boring UC-1 (Department of Energy, Nevada Operation Office [DOE/NV], 1997). CAU 417 consists of 34 Corrective Action Sites (CASs). Site closure was completed using a Nevada Department of Environmental Protection (NDEP) approved Corrective Action Plan (CAP) (DOE/NV, 2000) which was based on the recommendations presented in the NDEP-approved Corrective Action Decision Document (DOE/NV, 1999). Closure of CAU 417 was completed in two phases. Phase I field activities were completed with NDEP concurrence during 1999 as outlined in the Phase I Work Plan, Appendix A of the CAP (DOE/NV, 2000), and as summarized in Section 2.1.2 of this document

  2. The complete linkage disequilibrium test: a test that points to causative mutations underlying quantitative traits

    Directory of Open Access Journals (Sweden)

    Uleberg Eivind

    2011-05-01

    Full Text Available Abstract Background Genetically, SNP that are in complete linkage disequilibrium with the causative SNP cannot be distinguished from the causative SNP. The Complete Linkage Disequilibrium (CLD test presented here tests whether a SNP is in complete LD with the causative mutation or not. The performance of the CLD test is evaluated in 1000 simulated datasets. Methods The CLD test consists of two steps i.e. analysis I and analysis II. Analysis I consists of an association analysis of the investigated region. The log-likelihood values from analysis I are next ranked in descending order and in analysis II the CLD test evaluates differences in log-likelihood ratios between the best and second best markers. Under the null-hypothesis distribution, the best SNP is in greater LD with the QTL than the second best, while under the alternative-CLD-hypothesis, the best SNP is alike-in-state with the QTL. To find a significance threshold, the test was also performed on data excluding the causative SNP. The 5th, 10th and 50th highest TCLD value from 1000 replicated analyses were used to control the type-I-error rate of the test at p = 0.005, p = 0.01 and p = 0.05, respectively. Results In a situation where the QTL explained 48% of the phenotypic variance analysis I detected a QTL in 994 replicates (p = 0.001, where 972 were positioned in the correct QTL position. When the causative SNP was excluded from the analysis, 714 replicates detected evidence of a QTL (p = 0.001. In analysis II, the CLD test confirmed 280 causative SNP from 1000 simulations (p = 0.05, i.e. power was 28%. When the effect of the QTL was reduced by doubling the error variance, the power of the test reduced relatively little to 23%. When sequence data were used, the power of the test reduced to 16%. All SNP that were confirmed by the CLD test were positioned in the correct QTL position. Conclusions The CLD test can provide evidence for a causative SNP, but its power may be low in situations

  3. 77 FR 3379 - Biorefinery Assistance Guaranteed Loans; Correction

    Science.gov (United States)

    2012-01-24

    ... credit risk analysis. The Agency will require an evaluation and either a credit rating or a credit... provisions as to what an applicant is to do in the event either an appraisal is not completed or a credit... Correction As published, the interim rule requires applicants to submit a ``credit rating'' with the...

  4. Quantitative Genetics Identifies Cryptic Genetic Variation Involved in the Paternal Regulation of Seed Development.

    Directory of Open Access Journals (Sweden)

    Nuno D Pires

    2016-01-01

    Full Text Available Embryonic development requires a correct balancing of maternal and paternal genetic information. This balance is mediated by genomic imprinting, an epigenetic mechanism that leads to parent-of-origin-dependent gene expression. The parental conflict (or kinship theory proposes that imprinting can evolve due to a conflict between maternal and paternal alleles over resource allocation during seed development. One assumption of this theory is that paternal alleles can regulate seed growth; however, paternal effects on seed size are often very low or non-existent. We demonstrate that there is a pool of cryptic genetic variation in the paternal control of Arabidopsis thaliana seed development. Such cryptic variation can be exposed in seeds that maternally inherit a medea mutation, suggesting that MEA acts as a maternal buffer of paternal effects. Genetic mapping using recombinant inbred lines, and a novel method for the mapping of parent-of-origin effects using whole-genome sequencing of segregant bulks, indicate that there are at least six loci with small, paternal effects on seed development. Together, our analyses reveal the existence of a pool of hidden genetic variation on the paternal control of seed development that is likely shaped by parental conflict.

  5. Correction of complete maxillary crossbite with severe crowding using Hyrax expansion and fixed appliance.

    Science.gov (United States)

    Wangsrimongkol, Tasanee; Manosudprasit, Montian; Pisek, Poonsak; Leelasinjaroen, Pornnapha

    2013-09-01

    An 18-year-old Thai man who presented with a secondary cleft palate, maxillary hypoplasia and severe crowding was treated by rapid maxillary expansion and fixed orthodontic appliances. Initial assessment found skeletal Class III malrelationship and dental Class II malocclusion with anterior and bilateral posterior crossbites. Camouflage orthodontic treatment was planned using a rapid maxillary expansion appliance and correcting crowding with extraction all four premolar teeth. A Hyrax appliance and vertical loop arch wire were placed for maxillary arch expansion of 9.5 mms at first molars and canines, and 5.5 mms at the premolars and obtained positive overjet. Both acceptable skeletal and soft tissue relationships and satisfactory occlusion were produced. After 14 months of postoperative follow-up, the occlusal result was stable and no skeletal reversals could be detected.

  6. Molecular genetics

    International Nuclear Information System (INIS)

    Parkinson, D.R.; Krontiris, T.G.

    1986-01-01

    In this chapter the authors review new findings concerning the molecular genetics of malignant melanoma in the context of other information obtained from clinical, epidemiologic, and cytogenetic studies in this malignancy. These new molecular approaches promise to provide a more complete understanding of the mechanisms involved in the development of melanoma, thereby suggesting new methods for its treatment and prevention

  7. Improving the quantitative accuracy of optical-emission computed tomography by incorporating an attenuation correction: application to HIF1 imaging

    Science.gov (United States)

    Kim, E.; Bowsher, J.; Thomas, A. S.; Sakhalkar, H.; Dewhirst, M.; Oldham, M.

    2008-10-01

    Optical computed tomography (optical-CT) and optical-emission computed tomography (optical-ECT) are new techniques for imaging the 3D structure and function (including gene expression) of whole unsectioned tissue samples. This work presents a method of improving the quantitative accuracy of optical-ECT by correcting for the 'self'-attenuation of photons emitted within the sample. The correction is analogous to a method commonly applied in single-photon-emission computed tomography reconstruction. The performance of the correction method was investigated by application to a transparent cylindrical gelatin phantom, containing a known distribution of attenuation (a central ink-doped gelatine core) and a known distribution of fluorescing fibres. Attenuation corrected and uncorrected optical-ECT images were reconstructed on the phantom to enable an evaluation of the effectiveness of the correction. Significant attenuation artefacts were observed in the uncorrected images where the central fibre appeared ~24% less intense due to greater attenuation from the surrounding ink-doped gelatin. This artefact was almost completely removed in the attenuation-corrected image, where the central fibre was within ~4% of the others. The successful phantom test enabled application of attenuation correction to optical-ECT images of an unsectioned human breast xenograft tumour grown subcutaneously on the hind leg of a nude mouse. This tumour cell line had been genetically labelled (pre-implantation) with fluorescent reporter genes such that all viable tumour cells expressed constitutive red fluorescent protein and hypoxia-inducible factor 1 transcription-produced green fluorescent protein. In addition to the fluorescent reporter labelling of gene expression, the tumour microvasculature was labelled by a light-absorbing vasculature contrast agent delivered in vivo by tail-vein injection. Optical-CT transmission images yielded high-resolution 3D images of the absorbing contrast agent, and

  8. Improving the quantitative accuracy of optical-emission computed tomography by incorporating an attenuation correction: application to HIF1 imaging

    International Nuclear Information System (INIS)

    Kim, E; Bowsher, J; Thomas, A S; Sakhalkar, H; Dewhirst, M; Oldham, M

    2008-01-01

    Optical computed tomography (optical-CT) and optical-emission computed tomography (optical-ECT) are new techniques for imaging the 3D structure and function (including gene expression) of whole unsectioned tissue samples. This work presents a method of improving the quantitative accuracy of optical-ECT by correcting for the 'self'-attenuation of photons emitted within the sample. The correction is analogous to a method commonly applied in single-photon-emission computed tomography reconstruction. The performance of the correction method was investigated by application to a transparent cylindrical gelatin phantom, containing a known distribution of attenuation (a central ink-doped gelatine core) and a known distribution of fluorescing fibres. Attenuation corrected and uncorrected optical-ECT images were reconstructed on the phantom to enable an evaluation of the effectiveness of the correction. Significant attenuation artefacts were observed in the uncorrected images where the central fibre appeared ∼24% less intense due to greater attenuation from the surrounding ink-doped gelatin. This artefact was almost completely removed in the attenuation-corrected image, where the central fibre was within ∼4% of the others. The successful phantom test enabled application of attenuation correction to optical-ECT images of an unsectioned human breast xenograft tumour grown subcutaneously on the hind leg of a nude mouse. This tumour cell line had been genetically labelled (pre-implantation) with fluorescent reporter genes such that all viable tumour cells expressed constitutive red fluorescent protein and hypoxia-inducible factor 1 transcription-produced green fluorescent protein. In addition to the fluorescent reporter labelling of gene expression, the tumour microvasculature was labelled by a light-absorbing vasculature contrast agent delivered in vivo by tail-vein injection. Optical-CT transmission images yielded high-resolution 3D images of the absorbing contrast agent

  9. A golden A5 model of leptons with a minimal NLO correction

    International Nuclear Information System (INIS)

    Cooper, Iain K.; King, Stephen F.; Stuart, Alexander J.

    2013-01-01

    We propose a new A 5 model of leptons which corrects the LO predictions of Golden Ratio mixing via a minimal NLO Majorana mass correction which completely breaks the original Klein symmetry of the neutrino mass matrix. The minimal nature of the NLO correction leads to a restricted and correlated range of the mixing angles allowing agreement within the one sigma range of recent global fits following the reactor angle measurement by Daya Bay and RENO. The minimal NLO correction also preserves the LO inverse neutrino mass sum rule leading to a neutrino mass spectrum that extends into the quasi-degenerate region allowing the model to be accessible to the current and future neutrinoless double beta decay experiments

  10. Correction of incomplete penoscrotal transposition by a modified Glenn-Anderson technique

    Directory of Open Access Journals (Sweden)

    Saleh Amin

    2010-01-01

    Full Text Available Purpose: Penoscrotal transposition may be partial or complete, resulting in variable degrees of positional exchanges between the penis and the scrotum. Repairs of penoscrotal transposition rely on the creation of rotational flaps to mobilise the scrotum downwards or transpose the penis to a neo hole created in the skin of the mons-pubis. All known techniques result in complete circular incision around the root of the penis, resulting in severe and massive oedema of the penile skin, which delays correction of the associated hypospadias and increases the incidence of complications, as the skin vascularity and lymphatics are impaired by the designed incision. A new design to prevent this post-operative oedema, allowing early correction of the associated hypospadias and lowering the incidence of possible complications, had been used, whose results were compared with other methods of correction. Materials and Methods: Ten patients with incomplete penoscrotal transposition had been corrected by designing rotational flaps that push the scrotum back while the penile skin remains attached by small strip to the skin of the mons-pubis. Results : All patients showed an excellent cosmetic outcome. There was minimal post-operative oedema and no vascular compromise to the penile or scrotal skin. Correction of associated hypospadias can be performed in the same sitting or in another sitting, without or with minimal complications. Conclusion: This modification, which maintains the penile skin connected to the skin of the lower abdomen by a small strip of skin during correction of penoscrotal transposition, prevents post-operative oedema and improves healing with excellent cosmetic appearance, allows one-stage repair with minimal complications and reduce post-operative complications such as urinary fistula and flap necrosis.

  11. Analysis of dynamical corrections to baryon magnetic moments

    International Nuclear Information System (INIS)

    Ha, Phuoc; Durand, Loyal

    2003-01-01

    We present and analyze QCD corrections to the baryon magnetic moments in terms of the one-, two-, and three-body operators which appear in the effective field theory developed in our recent papers. The main corrections are extended Thomas-type corrections associated with the confining interactions in the baryon. We investigate the contributions of low-lying angular excitations to the baryon magnetic moments quantitatively and show that they are completely negligible. When the QCD corrections are combined with the nonquark model contributions of the meson loops, we obtain a model which describes the baryon magnetic moments within a mean deviation of 0.04 μ N . The nontrivial interplay of the two types of corrections to the quark-model magnetic moments is analyzed in detail, and explains why the quark model is so successful. In the course of these calculations, we parametrize the general spin structure of the j=(1/2) + baryon wave functions in a form which clearly displays the symmetry properties and the internal angular momentum content of the wave functions, and allows us to use spin-trace methods to calculate the many spin matrix elements which appear in the expressions for the baryon magnetic moments. This representation may be useful elsewhere

  12. Radiative corrections to double-Dalitz decays revisited

    Science.gov (United States)

    Kampf, Karol; Novotný, Jiři; Sanchez-Puertas, Pablo

    2018-03-01

    In this study, we revisit and complete the full next-to-leading order corrections to pseudoscalar double-Dalitz decays within the soft-photon approximation. Comparing to the previous study, we find small differences, which are nevertheless relevant for extracting information about the pseudoscalar transition form factors. Concerning the latter, these processes could offer the opportunity to test them—for the first time—in their double-virtual regime.

  13. Genetic Variation in Cardiomyopathy and Cardiovascular Disorders.

    Science.gov (United States)

    McNally, Elizabeth M; Puckelwartz, Megan J

    2015-01-01

    With the wider deployment of massively-parallel, next-generation sequencing, it is now possible to survey human genome data for research and clinical purposes. The reduced cost of producing short-read sequencing has now shifted the burden to data analysis. Analysis of genome sequencing remains challenged by the complexity of the human genome, including redundancy and the repetitive nature of genome elements and the large amount of variation in individual genomes. Public databases of human genome sequences greatly facilitate interpretation of common and rare genetic variation, although linking database sequence information to detailed clinical information is limited by privacy and practical issues. Genetic variation is a rich source of knowledge for cardiovascular disease because many, if not all, cardiovascular disorders are highly heritable. The role of rare genetic variation in predicting risk and complications of cardiovascular diseases has been well established for hypertrophic and dilated cardiomyopathy, where the number of genes that are linked to these disorders is growing. Bolstered by family data, where genetic variants segregate with disease, rare variation can be linked to specific genetic variation that offers profound diagnostic information. Understanding genetic variation in cardiomyopathy is likely to help stratify forms of heart failure and guide therapy. Ultimately, genetic variation may be amenable to gene correction and gene editing strategies.

  14. Radiation genetics. Status and prospects

    International Nuclear Information System (INIS)

    Svyatova, G.S.; Abil'dinova, G.Zh.; Berezina, G.M.

    1997-01-01

    In Republic of Kazakhstan on the base of Republican Scientific and Research Center for Mother and Child Health Protection the comprehensive medical-genetical testing of rural population living in immediate proximity from Semipalatinsk test site is carried out. Besides of general medical-genetic characteristics of examined population the frequency and structure of congenital diseases of newborns from 1970 to 1995 were determined. 67.5 thousand parturitions outcomes in researched area and 21.5 thousand ones in control district (Akmola region) are studied. Both the frequency and the structure of chromosomal aberration of population living on contaminated by radionuclides territories is researched as well. Perspective trends in field of clinical radiation genetics are outlined, there are as follows: - application of early diagnostics and prophylaxis of radiation-induced pathology of both the stochastic and nonstochastic characters; - conducting of biologic dosimetry; - wide application of peri-conception prophylaxis of genetic disorders; - application of anti-mutagens and special food-stuffs making for both the reducing of the absorption and the accumulation of radionuclides in organism; - introduction of long-term programs of correction of developing pathologies caused by multifactorial influence of environment

  15. A simple bias correction in linear regression for quantitative trait association under two-tail extreme selection.

    Science.gov (United States)

    Kwan, Johnny S H; Kung, Annie W C; Sham, Pak C

    2011-09-01

    Selective genotyping can increase power in quantitative trait association. One example of selective genotyping is two-tail extreme selection, but simple linear regression analysis gives a biased genetic effect estimate. Here, we present a simple correction for the bias.

  16. Corrective Action Decision Document for Corrective Action Unit 568. Area 3 Plutonium Dispersion Sites, Nevada National Security Site, Nevada Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Matthews, Patrick [Nevada Field Ofice, Las Vegas, NV (United States). National Nuclear Security Administration

    2015-08-01

    The purpose of this Corrective Action Decision Document is to identify and provide the rationale for the recommendation of corrective action alternatives (CAAs) for the 14 CASs within CAU 568. Corrective action investigation (CAI) activities were performed from April 2014 through May 2015, as set forth in the Corrective Action Investigation Plan for Corrective Action Unit 568: Area 3 Plutonium Dispersion Sites, Nevada National Security Site, Nevada; and in accordance with the Soils Activity Quality Assurance Plan, which establishes requirements, technical planning, and general quality practices. The purpose of the CAI was to fulfill data needs as defined during the DQO process. The CAU 568 dataset of investigation results was evaluated based on a data quality assessment. This assessment demonstrated that the dataset is complete and acceptable for use in fulfilling the DQO data needs. Based on the evaluation of analytical data from the CAI, review of future and current operations at the 14 CASs, and the detailed and comparative analysis of the potential CAAs, the following corrective actions are recommended for CAU 568: • No further action is the preferred corrective action for CASs 03-23-17, 03-23-22, 03-23-26. • Closure in place is the preferred corrective action for CAS 03-23-19; 03-45-01; the SE DCBs at CASs 03-23-20, 03-23-23, 03-23-31, 03-23-32, 03-23-33, and 03-23-34; and the Pascal-BHCA at CAS 03-23-31. • Clean closure is the preferred corrective action for CASs 03-08-04, 03-23-30, and 03-26-04; and the four well head covers at CASs 03-23-20, 03-23-23, 03-23-31, and 03-23-33.

  17. Corrective Action Decision Document/Corrective Action Plan for Corrective Action Unit 98: Frenchman Flat, Nevada National Security Site, Nevada, Revision 1

    Energy Technology Data Exchange (ETDEWEB)

    Irene Farnham and Sam Marutzky

    2011-07-01

    This CADD/CAP follows the Corrective Action Investigation (CAI) stage, which results in development of a set of contaminant boundary forecasts produced from groundwater flow and contaminant transport modeling of the Frenchman Flat CAU. The Frenchman Flat CAU is located in the southeastern portion of the NNSS and comprises 10 underground nuclear tests. The tests were conducted between 1965 and 1971 and resulted in the release of radionuclides in the subsurface in the vicinity of the test cavities. Two important aspects of the corrective action process are presented within this CADD/CAP. The CADD portion describes the results of the Frenchman Flat CAU data-collection and modeling activities completed during the CAI stage. The corrective action objectives and the actions recommended to meet the objectives are also described. The CAP portion describes the corrective action implementation plan. The CAP begins with the presentation of CAU regulatory boundary objectives and initial use restriction boundaries that are identified and negotiated by NNSA/NSO and the Nevada Division of Environmental Protection (NDEP). The CAP also presents the model evaluation process designed to build confidence that the flow and contaminant transport modeling results can be used for the regulatory decisions required for CAU closure. The first two stages of the strategy have been completed for the Frenchman Flat CAU. A value of information analysis and a CAIP were developed during the CAIP stage. During the CAI stage, a CAIP addendum was developed, and the activities proposed in the CAIP and addendum were completed. These activities included hydrogeologic investigation of the underground testing areas, aquifer testing, isotopic and geochemistry-based investigations, and integrated geophysical investigations. After these investigations, a groundwater flow and contaminant transport model was developed to forecast contaminant boundaries that enclose areas potentially exceeding the Safe Drinking

  18. Relationship between Counseling Students' Childhood Memories and Current Negative Self-Evaluations When Receiving Corrective Feedback

    Science.gov (United States)

    Stroud, Daniel; Olguin, David; Marley, Scott

    2016-01-01

    This article entails a study focused on the relationship between counseling students' negative childhood memories of receiving corrective feedback and current negative self-evaluations when receiving similar feedback in counselor education programs. Participants (N = 186) completed the Corrective Feedback Instrument-Revised (CFI-R; Hulse-Killacky…

  19. Clinical Efficiency of Two Sequences of Orthodontic Wires to Correct Crowding of the Lower Anterior Teeth

    Directory of Open Access Journals (Sweden)

    Cláudia Maria de Castro Serafim

    2015-01-01

    Full Text Available This study compared time to correction of mandibular anterior crowding using two arch wire sequences, one with conventional nickel-titanium (NiTi arch wires and the other with conventional and NiTi heat-activated arch wires. Twenty-two boys and girls (mean age: 16.68 ± 2.66 with moderate crowding (3–6 mm were assigned randomly to one of two groups and followed up for five months (six assessments when arch wires were changed. Time to crowding correction was analyzed statistically using the Kaplan-Meier method. Data were collected during the five-month follow-up, and time to correction was compared between groups using the log rank test. At the end of follow-up, mandibular crowding was corrected in 100% of the cases in the group treated with the sequence that included NiTi heat-activated arch wires, whereas about 30% of those treated with NiTi arch wires were not completely corrected. There was a significant difference in time to complete treatment between groups (log rank = 5.996; p<0.05. In the group treated with the sequence that included heat-activated wires, alignment and leveling of mandibular anterior teeth were completed earlier than in the group treated only with conventional NiTi arch wires. Clinical trial registration is found at RBR-7g5zng.

  20. Corrective Action Decision Document/Closure Report for Corrective Action Unit 511: Waste Dumps (Piles and Debris) Nevada Test Site, Nevada, Rev. No.: 0

    Energy Technology Data Exchange (ETDEWEB)

    Pastor, Laura

    2005-12-01

    This Corrective Action Decision Document/Closure Report has been prepared for Corrective Action Unit (CAU) 511, Waste Dumps (Piles & Debris). The CAU is comprised of nine corrective action sites (CASs) located in Areas 3, 4, 6, 7, 18, and 19 of the Nevada Test Site, Nevada, in accordance with the ''Federal Facility Agreement and Consent Order'' (1996). Corrective Action Unit 511 is comprised of nine CASs: (1) 03-08-02, Waste Dump (Piles & Debris); (2) 03-99-11, Waste Dump (Piles); (3) 03-99-12, Waste Dump (Piles & Debris); (4) 04-99-04, Contaminated Trench/Berm; (5) 06-16-01, Waste Dump (Piles & Debris); (6) 06-17-02, Scattered Ordnance/Automatic Weapons Range; (7) 07-08-01, Contaminated Mound; (8) 18-99-10, Ammunition Dump; and (9) 19-19-03, Waste Dump (Piles & Debris). The purpose of this Corrective Action Decision Document/Closure Report is to provide justification and documentation supporting the recommendation for closure of CAU 511 with no further corrective action. To achieve this, corrective action investigation (CAI) and closure activities were performed from January 2005 through August 2005, as set forth in the ''Corrective Action Investigation Plan for Corrective Action Unit 511: Waste Dumps (Piles & Debris)'' (NNSA/NSO, 2004) and Record of Technical Change No. 1. The purpose of the CAI was to fulfill the following data needs as defined during the data quality objective process: (1) Determine whether contaminants of concern (COCs) are present. (2) If COCs are present, determine their nature and extent. (3) Provide sufficient information and data to complete appropriate corrective actions. The CAU 511 dataset from the investigation results was evaluated based on the data quality indicator parameters. This evaluation demonstrated the quality and acceptability of the dataset for use in fulfilling the data quality objective data needs. Analytes detected during the CAI were evaluated against appropriate preliminary

  1. Intraspecific phylogenetic analysis of Siberian woolly mammoths using complete mitochondrial genomes

    DEFF Research Database (Denmark)

    Gilbert, M Thomas P; Drautz, Daniela I; Lesk, Arthur M

    2008-01-01

    We report five new complete mitochondrial DNA (mtDNA) genomes of Siberian woolly mammoth (Mammuthus primigenius), sequenced with up to 73-fold coverage from DNA extracted from hair shaft material. Three of the sequences present the first complete mtDNA genomes of mammoth clade II. Analysis...... to indicate any important functional difference between genomes belonging to the two clades, suggesting that the loss of clade II more likely is due to genetic drift than a selective sweep....

  2. THE INFLUENCE OF PROGRAMMED CORRECTIVE EXERCISES ON KIFOTIC BAD BODY POSITION AT PRIMARY SCHOOL CHILDREN

    Directory of Open Access Journals (Sweden)

    Zoran Bogdanović

    2008-08-01

    Full Text Available The subject matter of the research was the influence of specially programmed physical education instruction with specific complexes of exercises of corrective gymnastics at the 5th grade pupils, on the territory of the city Kragujevac, at those with kifotic bad body position established by measuring. After forming of experimental and control subjects groups, the experiment began. The subjects had the task to do the complete set of corrective exercises, determined before hand, three times a week during one class time. That programme was carried out continuously during the entire school year and the first semester of the following year, except during summer and winter vacation break. It can be concluded that the contents of experimental section of corrective gymnastics had the positive influence on the correction of kifotic bad body position at all the subjects, but with the more effective results at male population where the high percentage of corrected postural disturbance was attained. It can be said that the time period of eighteen months was enough for correction of kifotic bad body position at great number of the subjects. It can be also assumed that the more qualitative and complete improvement will be attained in the case of further continual exercises.

  3. Simple regular black hole with logarithmic entropy correction

    Energy Technology Data Exchange (ETDEWEB)

    Morales-Duran, Nicolas; Vargas, Andres F.; Hoyos-Restrepo, Paulina; Bargueno, Pedro [Universidad de los Andes, Departamento de Fisica, Bogota, Distrito Capital (Colombia)

    2016-10-15

    A simple regular black hole solution satisfying the weak energy condition is obtained within Einstein-non-linear electrodynamics theory. We have computed the thermodynamic properties of this black hole by a careful analysis of the horizons and we have found that the usual Bekenstein-Hawking entropy gets corrected by a logarithmic term. Therefore, in this sense our model realises some quantum gravity predictions which add this kind of correction to the black hole entropy. In particular, we have established some similitudes between our model and a quadratic generalised uncertainty principle. This similitude has been confirmed by the existence of a remnant, which prevents complete evaporation, in agreement with the quadratic generalised uncertainty principle case. (orig.)

  4. Corrective Action Decision Document/Closure Report for Corrective Action Unit 545: Dumps, Waste Disposal Sites, and Buried Radioactive Materials Nevada Test Site, Nevada, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Alfred Wickline

    2008-04-01

    sufficient, and safety concerns existed about the stability of the crater component. Therefore, a corrective action of close in place with a use restriction is recommended, and sampling at the site was not considered necessary. The purpose of this CADD/CR is to provide justification and documentation to support the recommendation for closure of CAU 545 with no further corrective action. To achieve this, corrective action investigation (CAI) activities were performed from August 20 through November 02, 2007, as set forth in the CAU 545 Corrective Action Investigation Plan. The purpose of the CAI was to fulfill the following data needs as defined during the DQO process: • Determine whether contaminants of concern (COCs) are present. • If COCs are present, determine their nature and extent. • Provide sufficient information and data to complete appropriate corrective actions. The CAU 545 dataset from the investigation results was evaluated based on the data quality indicator parameters. This evaluation demonstrated the quality and acceptability of the dataset for use in fulfilling the DQO data needs. Analytes detected during the CAI were evaluated against final action levels established in this CADD/CR. The results of the CAI identified no COCs at the five CASs investigated in CAU 545. As a best management practice, repair of the fence enclosing CAS 03-08-03 has been completed. Therefore, the DOE, National Nuclear Security Administration Nevada Site Office provides the following recommendations: • Close in place COCs at CASs 03-08-03 and 03-23-05 with use restrictions. • No further corrective action for CAU 545. • No Corrective Action Plan. • Corrective Action Unit 545 should be moved from Appendix III to Appendix IV of the Federal Facility Agreement and Consent Order. • A Notice of Completion to the DOE, National Nuclear Security Administration Nevada Site Office is requested from the Nevada Division of Environmental Protection for closure of CAU 545.

  5. Corrective Jaw Surgery

    Medline Plus

    Full Text Available ... out more. Corrective Jaw Surgery Corrective Jaw Surgery Orthognathic surgery is performed to correct the misalignment of jaws ... out more. Corrective Jaw Surgery Corrective Jaw Surgery Orthognathic surgery is performed to correct the misalignment of jaws ...

  6. Education and certification of genetic counselors.

    Science.gov (United States)

    Katsichti, L; Hadzipetros-Bardanis, M; Bartsocas, C S

    1999-01-01

    Genetic counseling is defined by the American Society of Human Genetics as a communication process which deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. The first graduate program (Master's degree) in genetic counseling started in 1969 at Sarah Lawrence College, NY, USA, while in 1979 the National Society of Genetic Counseling (NSGC) was established. Today, there are 29 programs in U.S.A. offering a Master's degree in Genetic Counseling, five programs in Canada, one in Mexico, one in England and one in S. Africa. Most of these graduate programs offer two year training, consisting of graduate courses, seminars, research and practical training. Emphasis is given in human physiology, biochemistry, clinical genetics, cytogenetics, molecular and biochemical genetics, population genetics and statistics, prenatal diagnosis, teratology and genetic counseling in relation to psychosocial and ethical issues. Certification for eligible candidates is available through the American Board of Medical Genetics (ABMG). Requirements for certification include a master's degree in human genetics, training at sites accredited by the ABMG, documentation of genetic counseling experience, evidence of continuing education and successful completion of a comprehensive ABMG certification examination. As professionals, genetic counselors should maintain expertise, should insure mechanisms for professional advancement and should always maintain the ability to approach their patients.

  7. A genetic analysis of Trichuris trichiura and Trichuris suis from Ecuador

    DEFF Research Database (Denmark)

    Meekums, Hayley; Hawash, Mohamed B F; Sparks, Alexandra M

    2015-01-01

    BACKGROUND: Since the nematodes Trichuris trichiura and T. suis are morphologically indistinguishable, genetic analysis is required to assess epidemiological cross-over between people and pigs. This study aimed to clarify the transmission biology of trichuriasis in Ecuador. FINDINGS: Adult...... Trichuris worms were collected during a parasitological survey of 132 people and 46 pigs in Esmeraldas Province, Ecuador. Morphometric analysis of 49 pig worms and 64 human worms revealed significant variation. In discriminant analysis morphometric characteristics correctly classified male worms according...... to genetically analyse Trichuris parasites. Although T. trichiura does not appear to be zoonotic in Ecuador, there is evidence of genetic exchange between T. trichiura and T. suis warranting more detailed genetic sampling....

  8. The efficiency of mitochondrial DNA markers in constructing genetic ...

    African Journals Online (AJOL)

    The efficiency of mitochondrial DNA markers in constructing genetic relationship among Oryx species. ... These data were used to provide the genetic kinship among different Oryx species. The complete cytochrome b gene ... Key words: Conservation, endangered species, Oryx, mitochondrial DNA (mtDNA) markers.

  9. Illustrating, Quantifying, and Correcting for Bias in Post-hoc Analysis of Gene-Based Rare Variant Tests of Association

    Science.gov (United States)

    Grinde, Kelsey E.; Arbet, Jaron; Green, Alden; O'Connell, Michael; Valcarcel, Alessandra; Westra, Jason; Tintle, Nathan

    2017-01-01

    To date, gene-based rare variant testing approaches have focused on aggregating information across sets of variants to maximize statistical power in identifying genes showing significant association with diseases. Beyond identifying genes that are associated with diseases, the identification of causal variant(s) in those genes and estimation of their effect is crucial for planning replication studies and characterizing the genetic architecture of the locus. However, we illustrate that straightforward single-marker association statistics can suffer from substantial bias introduced by conditioning on gene-based test significance, due to the phenomenon often referred to as “winner's curse.” We illustrate the ramifications of this bias on variant effect size estimation and variant prioritization/ranking approaches, outline parameters of genetic architecture that affect this bias, and propose a bootstrap resampling method to correct for this bias. We find that our correction method significantly reduces the bias due to winner's curse (average two-fold decrease in bias, p bias and improve inference in post-hoc analysis of gene-based tests under a wide variety of genetic architectures. PMID:28959274

  10. Erratum REML estimates of genetic parameters of sexual ...

    Indian Academy of Sciences (India)

    Unknown

    dimorphism for wing and thorax length in. Drosophila melanogaster. Sandrine Mignon-Grasteau, Jean David, Patricia Gibert, Hélène Legout, Georges Pétavy, Brigitte Moreteau and Catherine Beaumont. J. Genet. 83, 163–170. The printed article (August 2004 issue) has a wrong figure 5. The correct figure 5 is printed below.

  11. The role of completion imaging following carotid artery endarterectomy.

    Science.gov (United States)

    Ricco, Jean-Baptiste; Schneider, Fabrice; Illuminati, Giulio; Samson, Russell H

    2013-05-01

    A variety of completion imaging methods can be used during carotid endarterectomy to recognize technical errors or intrinsic abnormalities such as mural thrombus or platelet aggregation, but none of these methods has achieved wide acceptance, and their ability to improve the outcome of the operation remains a matter of controversy. It is unclear if completion imaging is routinely necessary and which abnormalities require re-exploration. Proponents of routine completion imaging argue that identification of these abnormalities will allow their immediate correction and avoid a perioperative stroke. However, much of the evidence in favor of this argument is incidental, and many experienced vascular surgeons who perform carotid endarterectomy do not use any completion imaging technique and report equally good outcomes using a careful surgical protocol. Furthermore, certain postoperative strokes, including intracerebral hemorrhage and hyperperfusion syndrome, are unrelated to the surgical technique and cannot be prevented by completion imaging. This controversial subject is now open to discussion, and our debaters have been given the task to clarify the evidence to justify their preferred option for completion imaging during carotid endarterectomy. Copyright © 2013 Society for Vascular Surgery. Published by Mosby, Inc. All rights reserved.

  12. On higher-order corrections in M theory

    International Nuclear Information System (INIS)

    Howe, P.S.; Tsimpis, D.

    2003-01-01

    A theoretical analysis of higher-order corrections to D=11 supergravity is given in a superspace framework. It is shown that any deformation of D=11 supergravity for which the lowest-dimensional component of the four-form G 4 vanishes is trivial. This implies that the equations of motion of D=11 supergravity are specified by an element of a certain spinorial cohomology group and generalises previous results obtained using spinorial or pure spinor cohomology to the fully non-linear theory. The first deformation of the theory is given by an element of a different spinorial cohomology group with coefficients which are local tensorial functions of the massless supergravity fields. The four-form Bianchi Identities are solved, to first order and at dimension -{1/2}, in the case that the lowest-dimensional component of G 4 is non-zero. Moreover, it is shown how one can calculate the first-order correction to the dimension-zero torsion and thus to the supergravity equations of motion given an explicit expression for this object in terms of the supergravity fields. The version of the theory with both a four-form and a seven-form is discussed in the presence of the five-brane anomaly-cancelling term. It is shown that the supersymmetric completion of this term exists and it is argued that it is the unique anomaly-cancelling invariant at this dimension which is at least quartic in the fields. This implies that the first deformation of the theory is completely determined by the anomaly term from which one can, in principle, read off the corrections to all of the superspace field strength tensors. (author)

  13. Genetic structure of three Croatian horse breeds: implications for their conservation strategy

    Directory of Open Access Journals (Sweden)

    Miljenko Konjačić

    2010-01-01

    Full Text Available The genetic variability for a sample of 107 animals from three autochthonous Croatian horse breeds was estimated using 20 microsatellites. The average number of alleles per locus (6.3 and proportion of heterozygosity (0.732 indicated a moderate variability. The expected heterozygosity was similar among all breeds and ranged between 0.724 in the Posavina horse, and 0.737 in the Croatian Coldblood and Murinsulaner horse. The inbreeding coefficient FIS was low and non-significant over the three populations. The genetic differentiation among the three populations was low (FST=0.026, suggesting that only 2.6% of the total genetic variability was due to differences between the breeds, and 97% to individual differences. The results of pairwise genetic differentiation suggest that the Posavina horse and the Croatian Coldblood were the most closely related populations (FST=0.016. These results are confirmed by Nei’s genetic distances with the highest value observed between the Posavina horse and the Murinsulaner (0.082 and the lowest between the Posavina horse and the Croatian Coldblood (0.044. An assignment test correctly assigned 82% of individuals to the correct breed. Strategies for preserving the original native genes in the Croatian native horse breeds should be considered in order to prevent these breeds from becoming extinct and include them in the future breeding programmes.

  14. Genetic background of supernumerary teeth.

    Science.gov (United States)

    Subasioglu, Asli; Savas, Selcuk; Kucukyilmaz, Ebru; Kesim, Servet; Yagci, Ahmet; Dundar, Munis

    2015-01-01

    Supernumerary teeth (ST) are odontostomatologic anomaly characterized by as the existence excessive number of teeth in relation to the normal dental formula. This condition is commonly seen with several congenital genetic disorders such as Gardner's syndrome, cleidocranial dysostosis and cleft lip and palate. Less common syndromes that are associated with ST are; Fabry Disease, Ellis-van Creveld syndrome, Nance-Horan syndrome, Rubinstein-Taybi Syndrome and Trico-Rhino-Phalangeal syndrome. ST can be an important component of a distinctive disorder and an important clue for early diagnosis. Certainly early detecting the abnormalities gives us to make correct management of the patient and also it is important for making well-informed decisions about long-term medical care and treatment. In this review, the genetic syndromes that are related with ST were discussed.

  15. Complete nucleotide sequence of the Oenothera elata plastid chromosome, representing plastome I of the five distinguishable euoenothera plastomes.

    Science.gov (United States)

    Hupfer, H; Swiatek, M; Hornung, S; Herrmann, R G; Maier, R M; Chiu, W L; Sears, B

    2000-05-01

    We describe the 159,443-bp [corrected] sequence of the plastid chromosome of Oenothera elata (evening primrose). The Oe. elata plastid chromosome represents type I of the five genetically distinguishable basic plastomes found in the subsection Euoenothera. The genus Oenothera provides an ideal system in which to address fundamental questions regarding the functional integration of the compartmentalised genetic system characteristic of the eukaryotic cell. Its highly developed taxonomy and genetics, together with a favourable combination of features in its genetic structure (interspecific fertility, stable heterozygous progeny, biparental transmission of organelles, and the phenomenon of complex heterozygosity), allow facile exchanges of nuclei, plastids and mitochondria, as well as individual chromosome pairs, between species. The resulting hybrids or cybrids are usually viable and fertile, but can display various forms of developmental disturbance.

  16. Sample design effects in landscape genetics

    Science.gov (United States)

    Oyler-McCance, Sara J.; Fedy, Bradley C.; Landguth, Erin L.

    2012-01-01

    An important research gap in landscape genetics is the impact of different field sampling designs on the ability to detect the effects of landscape pattern on gene flow. We evaluated how five different sampling regimes (random, linear, systematic, cluster, and single study site) affected the probability of correctly identifying the generating landscape process of population structure. Sampling regimes were chosen to represent a suite of designs common in field studies. We used genetic data generated from a spatially-explicit, individual-based program and simulated gene flow in a continuous population across a landscape with gradual spatial changes in resistance to movement. Additionally, we evaluated the sampling regimes using realistic and obtainable number of loci (10 and 20), number of alleles per locus (5 and 10), number of individuals sampled (10-300), and generational time after the landscape was introduced (20 and 400). For a simulated continuously distributed species, we found that random, linear, and systematic sampling regimes performed well with high sample sizes (>200), levels of polymorphism (10 alleles per locus), and number of molecular markers (20). The cluster and single study site sampling regimes were not able to correctly identify the generating process under any conditions and thus, are not advisable strategies for scenarios similar to our simulations. Our research emphasizes the importance of sampling data at ecologically appropriate spatial and temporal scales and suggests careful consideration for sampling near landscape components that are likely to most influence the genetic structure of the species. In addition, simulating sampling designs a priori could help guide filed data collection efforts.

  17. Corrective Action Decision Document/Corrective Action Plan for Corrective Action Unit 547: Miscellaneous Contaminated Waste Sites, Nevada National Security Site, Nevada, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Mark Krauss

    2011-09-01

    The purpose of this CADD/CAP is to present the corrective action alternatives (CAAs) evaluated for CAU 547, provide justification for selection of the recommended alternative, and describe the plan for implementing the selected alternative. Corrective Action Unit 547 consists of the following three corrective action sites (CASs): (1) CAS 02-37-02, Gas Sampling Assembly; (2) CAS 03-99-19, Gas Sampling Assembly; and(3) CAS 09-99-06, Gas Sampling Assembly. The gas sampling assemblies consist of inactive process piping, equipment, and instrumentation that were left in place after completion of underground safety experiments. The purpose of these safety experiments was to confirm that a nuclear explosion would not occur in the case of an accidental detonation of the high-explosive component of the device. The gas sampling assemblies allowed for the direct sampling of the gases and particulates produced by the safety experiments. Corrective Action Site 02-37-02 is located in Area 2 of the Nevada National Security Site (NNSS) and is associated with the Mullet safety experiment conducted in emplacement borehole U2ag on October 17, 1963. Corrective Action Site 03-99-19 is located in Area 3 of the NNSS and is associated with the Tejon safety experiment conducted in emplacement borehole U3cg on May 17, 1963. Corrective Action Site 09-99-06 is located in Area 9 of the NNSS and is associated with the Player safety experiment conducted in emplacement borehole U9cc on August 27, 1964. The CAU 547 CASs were investigated in accordance with the data quality objectives (DQOs) developed by representatives of the Nevada Division of Environmental Protection (NDEP) and the U.S. Department of Energy (DOE), National Nuclear Security Administration Nevada Site Office. The DQO process was used to identify and define the type, amount, and quality of data needed to determine and implement appropriate corrective actions for CAU 547. Existing radiological survey data and historical knowledge of

  18. Pentalogy of Cantrell: Complete expression with mediastinal teratoma

    Directory of Open Access Journals (Sweden)

    Michał Błaszczyński

    2015-08-01

    Full Text Available Pentalogy of Cantrell (POC is a rare, and often fatal congenital disorder that is characterized by a pentad consisting of ectopia cordis, omphalocele, sternal cleft, congenital diaphragmatic hernia, and various intra-cardiac defects. Although the hallmark of POC consists of these five anomalies, only a handful of cases have been reported with the full spectrum of this disorder. This case report presents a full term female with complete expression of POC and a mediastinal teratoma. Two days after birth, this infant underwent correction of the omphalocele and diaphragmatic defect, with repositioning of the cardiac apex within the thoracic cavity. Three months later surgical correction of the intra-cardiac defects took place. At initiation of cardiac by-pass a mediastinal mass at the superior cavopulmonary junction was identified and excised. This mass on histopathology was a teratoma, which makes this case unique as the occurrence of POC and mediastinal teratoma is unreported. This infant has survived the series of corrective surgeries, and is now functioning well. Conclusion: when POC is suspected further investigation for associated anomalies is required for a planned multidisciplinary surgical approach combined with neonatal intensive care to afford the opportunity for a successful outcome.

  19. A simple bias correction in linear regression for quantitative trait association under two-tail extreme selection

    OpenAIRE

    Kwan, Johnny S. H.; Kung, Annie W. C.; Sham, Pak C.

    2011-01-01

    Selective genotyping can increase power in quantitative trait association. One example of selective genotyping is two-tail extreme selection, but simple linear regression analysis gives a biased genetic effect estimate. Here, we present a simple correction for the bias. © The Author(s) 2011.

  20. Complete sequencing and pan-genomic analysis of Lactobacillus delbrueckii subsp. bulgaricus reveal its genetic basis for industrial yogurt production.

    Science.gov (United States)

    Hao, Pei; Zheng, Huajun; Yu, Yao; Ding, Guohui; Gu, Wenyi; Chen, Shuting; Yu, Zhonghao; Ren, Shuangxi; Oda, Munehiro; Konno, Tomonobu; Wang, Shengyue; Li, Xuan; Ji, Zai-Si; Zhao, Guoping

    2011-01-17

    Lactobacillus delbrueckii subsp. bulgaricus (Lb. bulgaricus) is an important species of Lactic Acid Bacteria (LAB) used for cheese and yogurt fermentation. The genome of Lb. bulgaricus 2038, an industrial strain mainly used for yogurt production, was completely sequenced and compared against the other two ATCC collection strains of the same subspecies. Specific physiological properties of strain 2038, such as lysine biosynthesis, formate production, aspartate-related carbon-skeleton intermediate metabolism, unique EPS synthesis and efficient DNA restriction/modification systems, are all different from those of the collection strains that might benefit the industrial production of yogurt. Other common features shared by Lb. bulgaricus strains, such as efficient protocooperation with Streptococcus thermophilus and lactate production as well as well-equipped stress tolerance mechanisms may account for it being selected originally for yogurt fermentation industry. Multiple lines of evidence suggested that Lb. bulgaricus 2038 was genetically closer to the common ancestor of the subspecies than the other two sequenced collection strains, probably due to a strict industrial maintenance process for strain 2038 that might have halted its genome decay and sustained a gene network suitable for large scale yogurt production.

  1. Complete sequencing and pan-genomic analysis of Lactobacillus delbrueckii subsp. bulgaricus reveal its genetic basis for industrial yogurt production.

    Directory of Open Access Journals (Sweden)

    Pei Hao

    Full Text Available Lactobacillus delbrueckii subsp. bulgaricus (Lb. bulgaricus is an important species of Lactic Acid Bacteria (LAB used for cheese and yogurt fermentation. The genome of Lb. bulgaricus 2038, an industrial strain mainly used for yogurt production, was completely sequenced and compared against the other two ATCC collection strains of the same subspecies. Specific physiological properties of strain 2038, such as lysine biosynthesis, formate production, aspartate-related carbon-skeleton intermediate metabolism, unique EPS synthesis and efficient DNA restriction/modification systems, are all different from those of the collection strains that might benefit the industrial production of yogurt. Other common features shared by Lb. bulgaricus strains, such as efficient protocooperation with Streptococcus thermophilus and lactate production as well as well-equipped stress tolerance mechanisms may account for it being selected originally for yogurt fermentation industry. Multiple lines of evidence suggested that Lb. bulgaricus 2038 was genetically closer to the common ancestor of the subspecies than the other two sequenced collection strains, probably due to a strict industrial maintenance process for strain 2038 that might have halted its genome decay and sustained a gene network suitable for large scale yogurt production.

  2. Complete Sequencing and Pan-Genomic Analysis of Lactobacillus delbrueckii subsp. bulgaricus Reveal Its Genetic Basis for Industrial Yogurt Production

    Science.gov (United States)

    Ding, Guohui; Gu, Wenyi; Chen, Shuting; Yu, Zhonghao; Ren, Shuangxi; Oda, Munehiro; Konno, Tomonobu; Wang, Shengyue; Li, Xuan; Ji, Zai-Si; Zhao, Guoping

    2011-01-01

    Lactobacillus delbrueckii subsp. bulgaricus (Lb. bulgaricus) is an important species of Lactic Acid Bacteria (LAB) used for cheese and yogurt fermentation. The genome of Lb. bulgaricus 2038, an industrial strain mainly used for yogurt production, was completely sequenced and compared against the other two ATCC collection strains of the same subspecies. Specific physiological properties of strain 2038, such as lysine biosynthesis, formate production, aspartate-related carbon-skeleton intermediate metabolism, unique EPS synthesis and efficient DNA restriction/modification systems, are all different from those of the collection strains that might benefit the industrial production of yogurt. Other common features shared by Lb. bulgaricus strains, such as efficient protocooperation with Streptococcus thermophilus and lactate production as well as well-equipped stress tolerance mechanisms may account for it being selected originally for yogurt fermentation industry. Multiple lines of evidence suggested that Lb. bulgaricus 2038 was genetically closer to the common ancestor of the subspecies than the other two sequenced collection strains, probably due to a strict industrial maintenance process for strain 2038 that might have halted its genome decay and sustained a gene network suitable for large scale yogurt production. PMID:21264216

  3. Online versus offline corrections: opposition or evolution? A comparison of two electronic portal imaging approaches for locally advanced prostate cancer

    International Nuclear Information System (INIS)

    Middleton, Mark; Medwell, Steve; Wong, Jacky; Lynton-Moll, Mary; Rolfo, Aldo; See Andrew; Joon, Michael Lim

    2006-01-01

    Given the onset of dose escalation and increased planning target volume (PTV) conformity, the requirement of accurate field placement has also increased. This study compares and contrasts a combination offline/online electronic portal imaging (EPI) device correction with a complete online correction protocol and assesses their relative effectiveness in managing set-up error. Field placement data was collected on patients receiving radical radiotherapy to the prostate. Ten patients were on an initial combination offline/online correction protocol, followed by another 10 patients on a complete online correction protocol. Analysis of 1480 portal images from 20 patients was carried out, illustrating that a combination offline/online approach can be very effective in dealing with the systematic component of set-up error, but it is only when a complete online correction protocol is employed that both systematic and random set-up errors can be managed. Now, EPI protocols have evolved considerably and online corrections are a highly effective tool in the quest for more accurate field placement. This study discusses the clinical workload impact issues that need to be addressed in order for an online correction protocol to be employed, and addresses many of the practical issues that need to be resolved. Management of set-up error is paramount when seeking to dose escalate and only an online correction protocol can manage both components of set-up error. Both systematic and random errors are important and can be effectively and efficiently managed

  4. Operator quantum error-correcting subsystems for self-correcting quantum memories

    International Nuclear Information System (INIS)

    Bacon, Dave

    2006-01-01

    The most general method for encoding quantum information is not to encode the information into a subspace of a Hilbert space, but to encode information into a subsystem of a Hilbert space. Recently this notion has led to a more general notion of quantum error correction known as operator quantum error correction. In standard quantum error-correcting codes, one requires the ability to apply a procedure which exactly reverses on the error-correcting subspace any correctable error. In contrast, for operator error-correcting subsystems, the correction procedure need not undo the error which has occurred, but instead one must perform corrections only modulo the subsystem structure. This does not lead to codes which differ from subspace codes, but does lead to recovery routines which explicitly make use of the subsystem structure. Here we present two examples of such operator error-correcting subsystems. These examples are motivated by simple spatially local Hamiltonians on square and cubic lattices. In three dimensions we provide evidence, in the form a simple mean field theory, that our Hamiltonian gives rise to a system which is self-correcting. Such a system will be a natural high-temperature quantum memory, robust to noise without external intervening quantum error-correction procedures

  5. CoFFEE: Corrections For Formation Energy and Eigenvalues for charged defect simulations

    Science.gov (United States)

    Naik, Mit H.; Jain, Manish

    2018-05-01

    Charged point defects in materials are widely studied using Density Functional Theory (DFT) packages with periodic boundary conditions. The formation energy and defect level computed from these simulations need to be corrected to remove the contributions from the spurious long-range interaction between the defect and its periodic images. To this effect, the CoFFEE code implements the Freysoldt-Neugebauer-Van de Walle (FNV) correction scheme. The corrections can be applied to charged defects in a complete range of material shapes and size: bulk, slab (or two-dimensional), wires and nanoribbons. The code is written in Python and features MPI parallelization and optimizations using the Cython package for slow steps.

  6. Correcting for catchment area nonresidency in studies based on tumor-registry data

    International Nuclear Information System (INIS)

    Sposto, R.; Preston, D.L.

    1993-05-01

    We discuss the effect of catchment area nonresidency on estimates of cancer incidence from a tumor-registry-based cohort study and demonstrate that a relatively simple correction is possible in the context of Poisson regression analysis if individual residency histories or the probabilities of residency are known. A comparison of a complete data maximum likelihood analysis with several Poisson regression analyses demonstrates the adequacy of the simple correction in a large simulated data set. We compare analyses of stomach-cancer incidence from the Radiation Effects Research Foundation tumor registry with and without the correction. We also discuss some implications of including cases identified only on the basis of death certificates. (author)

  7. The complete mitochondrial genome sequence of Oceanic whitetip shark, Carcharhinus longimanus (Carcharhiniformes: Carcharhinidae).

    Science.gov (United States)

    Li, Weiwen; Dai, Xiaojie; Xu, Qianghua; Wu, Feng; Gao, Chunxia; Zhang, Yanbo

    2016-05-01

    The complete mitochondrial DNA sequence of Carcharhinus longimanus was determined and analyzed. The complete mtDNA genome sequence of C. longimanus was 16,706 bp in length. It contained 22 tRNA genes, 2 rRNA genes, 13 protein-coding genes and 2 non-conding regions: control region (D-loop) and origin of light-strand replication (OL). The complete mitogenome sequence information of C. longimanus can provide a useful data for further studies on molecular systematics, stock evaluation, taxonomic status and conservation genetics.

  8. [Gerontoprosthesis. Concept of rebuilding old complete dentures].

    Science.gov (United States)

    Marxkors, R; Mayer, K

    1990-04-01

    If aged patients who have been wearing their full dentures without complications so far, need further prothetic treatment, the dentist must not replace the old denture by a completely new one. It is better to rebuild it step by step. This demand is based on the following theses: --Nobody but the patient himself is able to perform functional movements. --Unless bite and occlusion are correct, patients are not able to perform accurate functional movements. --When bite and occlusion have been checked and, if necessary, improved, bases and alveolar ridges must be congruent.

  9. Genetic analysis of fertility restoration under CGMS system in rice ...

    Indian Academy of Sciences (India)

    restore complete fertility of a certain CMS line by various restorer lines (Tan et ... Keywords. rice; heterosis; three-way test cross; fertility restoration genetics. Journal of ..... plants indicating a strong genetic load of maintenance in. DE2. Table 8.

  10. 40 CFR 60.2940 - How do I make sure my continuous emission monitoring systems are operating correctly?

    Science.gov (United States)

    2010-07-01

    ... emission monitoring systems are operating correctly? 60.2940 Section 60.2940 Protection of Environment... monitoring systems are operating correctly? (a) Conduct initial, daily, quarterly, and annual evaluations of your continuous emission monitoring systems that measure carbon monoxide and oxygen. (b) Complete your...

  11. Integrated genetic analysis microsystems

    International Nuclear Information System (INIS)

    Lagally, Eric T; Mathies, Richard A

    2004-01-01

    With the completion of the Human Genome Project and the ongoing DNA sequencing of the genomes of other animals, bacteria, plants and others, a wealth of new information about the genetic composition of organisms has become available. However, as the demand for sequence information grows, so does the workload required both to generate this sequence and to use it for targeted genetic analysis. Microfabricated genetic analysis systems are well poised to assist in the collection and use of these data through increased analysis speed, lower analysis cost and higher parallelism leading to increased assay throughput. In addition, such integrated microsystems may point the way to targeted genetic experiments on single cells and in other areas that are otherwise very difficult. Concomitant with these advantages, such systems, when fully integrated, should be capable of forming portable systems for high-speed in situ analyses, enabling a new standard in disciplines such as clinical chemistry, forensics, biowarfare detection and epidemiology. This review will discuss the various technologies available for genetic analysis on the microscale, and efforts to integrate them to form fully functional robust analysis devices. (topical review)

  12. Genetic reversion of inherited skin disorders

    Energy Technology Data Exchange (ETDEWEB)

    Magnaldo, Thierry; Sarasin, Alain

    2002-11-30

    Human epidermis is a squamous stratified epithelium whose integrity relies on balanced processes of cell attachment, proliferation, and differentiation. In monogenic skin dermatoses, such as mecano-bullous diseases, or DNA repair deficiencies such as the xeroderma pigmentosum (XP), alterations of skin integrity may have devastating consequences as illustrated by the extremely high epidermal cancer proneness of XP patients. The lack of efficient pharmacological treatments, the easy accessibility of skin, and the possibility of long term culture and genetic manipulations ex vivo of epidermal keratinocytes, have encouraged approaches toward gene transfer and skin therapy prospects. We review here some of the human genetic disorders that exhibit major traits in skin, as well as requirements and difficulties inherent to approaches aimed at stable phenotypic correction.

  13. Including gauge corrections to thermal leptogenesis

    International Nuclear Information System (INIS)

    Huetig, Janine

    2013-01-01

    This thesis provides the first approach of a systematic inclusion of gauge corrections to leading order to the ansatz of thermal leptogenesis. We have derived a complete expression for the integrated lepton number matrix including all resummations needed. For this purpose, a new class of diagram has been invented, namely the cylindrical diagram, which allows diverse investigations into the topic of leptogenesis such as the case of resonant leptogenesis. After a brief introduction of the topic of the baryon asymmetry in the universe and a discussion of its most promising solutions as well as their advantages and disadvantages, we have presented our framework of thermal leptogenesis. An effective model was described as well as the associated Feynman rules. The basis for using nonequilibrium quantum field theory has been built in chapter 3. At first, the main definitions have been presented for equilibrium thermal field theory, afterwards we have discussed the Kadanoff-Baym equations for systems out of equilibrium using the example of the Majorana neutrino. The equations have also been solved in the context of leptogenesis in chapter 4. Since gauge corrections play a crucial role throughout this thesis, we have also repeated the naive ansatz by replacing the free equilibrium propagator by propagators including thermal damping rates due to the Standard Model damping widths for lepton and Higgs fields. It is shown that this leads to a comparable result to the solutions of the Boltzmann equations for thermal leptogenesis. Thus it becomes obvious that Standard Model corrections are not negligible for thermal leptogenesis and therefore need to be included systematically from first principles. In order to achieve this we have started discussing the calculation of ladder rung diagrams for Majorana neutrinos using the HTL and the CTL approach in chapter 5. All gauge corrections are included in this framework and thus it has become the basis for the following considerations

  14. Including gauge corrections to thermal leptogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Huetig, Janine

    2013-05-17

    This thesis provides the first approach of a systematic inclusion of gauge corrections to leading order to the ansatz of thermal leptogenesis. We have derived a complete expression for the integrated lepton number matrix including all resummations needed. For this purpose, a new class of diagram has been invented, namely the cylindrical diagram, which allows diverse investigations into the topic of leptogenesis such as the case of resonant leptogenesis. After a brief introduction of the topic of the baryon asymmetry in the universe and a discussion of its most promising solutions as well as their advantages and disadvantages, we have presented our framework of thermal leptogenesis. An effective model was described as well as the associated Feynman rules. The basis for using nonequilibrium quantum field theory has been built in chapter 3. At first, the main definitions have been presented for equilibrium thermal field theory, afterwards we have discussed the Kadanoff-Baym equations for systems out of equilibrium using the example of the Majorana neutrino. The equations have also been solved in the context of leptogenesis in chapter 4. Since gauge corrections play a crucial role throughout this thesis, we have also repeated the naive ansatz by replacing the free equilibrium propagator by propagators including thermal damping rates due to the Standard Model damping widths for lepton and Higgs fields. It is shown that this leads to a comparable result to the solutions of the Boltzmann equations for thermal leptogenesis. Thus it becomes obvious that Standard Model corrections are not negligible for thermal leptogenesis and therefore need to be included systematically from first principles. In order to achieve this we have started discussing the calculation of ladder rung diagrams for Majorana neutrinos using the HTL and the CTL approach in chapter 5. All gauge corrections are included in this framework and thus it has become the basis for the following considerations

  15. Orthodontic treatment of a complete transposed impacted maxillary canine

    Directory of Open Access Journals (Sweden)

    Pi-Huei Liu

    2015-03-01

    Full Text Available Tooth transposition is a positional interchange of two adjacent teeth. Transposition most often occurs at maxillary canine. Moving transposed teeth to their normal positions is challenging because this requires bodily movement and translation of one tooth to pass another. This procedure may cause damage to the teeth or supporting structures. We report a case of complete transposition of maxillary canine and lateral incisor. Transposed teeth were successfully moved orthodontically to their normal positions. Multiple mechanics were meticulously applied to achieve complete correction of the tooth positions and to minimize root resorption and/or periodontal defects of canine and lateral incisors. Factors concerning treatment planning for transposed teeth are discussed.

  16. Partial status epilepticus - rapid genetic diagnosis of Alpers' disease.

    LENUS (Irish Health Repository)

    McCoy, Bláthnaid

    2011-11-01

    We describe four children with a devastating encephalopathy characterised by refractory focal seizures and variable liver dysfunction. We describe their electroencephalographic, radiologic, genetic and pathologic findings. The correct diagnosis was established by rapid gene sequencing. POLG1 based Alpers\\' disease should be considered in any child presenting with partial status epilepticus.

  17. Frequently Asked Questions about Genetic Disorders

    Science.gov (United States)

    ... structures that carry genes). As we unlock the secrets of the human genome (the complete set of ... geneticalliance.org] More information from the Genetic Alliance Top of page Last Updated: November 10, 2015 See ...

  18. An overview of correctional psychiatry.

    Science.gov (United States)

    Metzner, Jeffrey; Dvoskin, Joel

    2006-09-01

    Supermax facilities may be an unfortunate and unpleasant necessity in modern corrections. Because of the serious dangers posed by prison gangs, they are unlikely to disappear completely from the correctional landscape any time soon. But such units should be carefully reserved for those inmates who pose the most serious danger to the prison environment. Further, the constitutional duty to provide medical and mental health care does not end at the supermax door. There is a great deal of common ground between the opponents of such environments and those who view them as a necessity. No one should want these expensive beds to be used for people who could be more therapeutically and safely managed in mental health treatment environments. No one should want people with serious mental illnesses to be punished for their symptoms. Finally, no one wants these units to make people more, instead of less, dangerous. It is in everyone's interests to learn as much as possible about the potential of these units for good and for harm. Corrections is a profession, and professions base their practices on data. If we are to avoid the most egregious and harmful effects of supermax confinement, we need to understand them far better than we currently do. Though there is a role for advocacy from those supporting or opposed to such environments, there is also a need for objective, scientifically rigorous study of these units and the people who live there.

  19. Corrective Action Decision Document for Corrective Action Unit 562: Waste Systems Nevada Test Site, Nevada, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Mark Krause

    2010-08-01

    This Corrective Action Decision Document (CADD) presents information supporting the selection of corrective action alternatives (CAAs) leading to the closure of Corrective Action Unit (CAU) 562, Waste Systems, in Areas 2, 23, and 25 of the Nevada Test Site, Nevada. This complies with the requirements of the Federal Facility Agreement and Consent Order (FFACO) that was agreed to by the State of Nevada; U.S. Department of Energy (DOE), Environmental Management; U.S. Department of Defense; and DOE, Legacy Management. Corrective Action Unit 562 comprises the following corrective action sites (CASs): • 02-26-11, Lead Shot • 02-44-02, Paint Spills and French Drain • 02-59-01, Septic System • 02-60-01, Concrete Drain • 02-60-02, French Drain • 02-60-03, Steam Cleaning Drain • 02-60-04, French Drain • 02-60-05, French Drain • 02-60-06, French Drain • 02-60-07, French Drain • 23-60-01, Mud Trap Drain and Outfall • 23-99-06, Grease Trap • 25-60-04, Building 3123 Outfalls The purpose of this CADD is to identify and provide the rationale for the recommendation of CAAs for the 13 CASs within CAU 562. Corrective action investigation (CAI) activities were performed from July 27, 2009, through May 12, 2010, as set forth in the CAU 562 Corrective Action Investigation Plan. The purpose of the CAI was to fulfill the following data needs as defined during the data quality objective (DQO) process: • Determine whether COCs are present. • If COCs are present, determine their nature and extent. • Provide sufficient information and data to complete appropriate corrective actions. A data quality assessment (DQA) performed on the CAU 562 data demonstrated the quality and acceptability of the data for use in fulfilling the DQO data needs. Analytes detected during the CAI were evaluated against appropriate final action levels (FALs) to identify the COCs for each CAS. The results of the CAI identified COCs at 10 of the 13 CASs in CAU 562, and thus corrective

  20. A practical introduction to electroweak radiative corrections

    International Nuclear Information System (INIS)

    Drees, M.

    1991-05-01

    This is a brief introduction into electroweak radiative corrections within the Standard Model, with the emphasis on performing actual calculations. To this end, a complete set of expressions is given that allows the computation of the ρ parameter, the W mass, and Z→fanti f decays for massless fermions, where the anti Manti S scheme has been used. I conclude with an assessment of what we have learned so far from electroweak precision experiments, and a brief outlook. (orig.)

  1. Congenital completely buried penis in boys: anatomical basis and surgical technique.

    Science.gov (United States)

    Liu, Xing; He, Da-wei; Hua, Yi; Zhang, De-ying; Wei, Guang-hui

    2013-07-01

    WHAT'S KNOWN ON THE SUBJECT? AND WHAT DOES THE STUDY ADD?: Surgical correction of the congenital completely buried penis (CCBP) is a difficult challenge and there is no unanimous consensus about the surgical 'gold standard' and patient eligibility for surgery. In the present study, dysgenetic fundiform ligaments were found to be attached to the distal or middle shaft of the penis. This abnormality can be successfully corrected by releasing the fundiform ligament and mobilising the scrotal skin to cover the length of the penile shaft. The study shows that the paucity and traction of the penile skin and an abnormal fundiform ligament are important anatomical defects in CCBP. Dorsal curve and severe shortage of penile skin in erectile conditions are the main indications for surgical correction. To present our experience of anatomical findings for congenital completely buried penis (CCBP), which has no unanimous consensus regarding the 'gold standard' for surgical correction and patient eligibility, by providing our surgical technique and illustrations. Between February 2006 and February 2011, 22 children with a median (range) age of 4.2 (2.5-5.8) years, with CCBP underwent surgical correction by one surgeon. Toilet training and photographs of morning erections by parents were advised before surgery. The abnormal anatomical structure of buried penis during the operation was observed. The technique consisted of the release of the fundiform ligament, fixation of the subcutaneous penile skin at the base of the degloved penis, penoscrotal Z-plasty and mobilisation of the penile and scrotal skin to cover the penile shaft. In reflex erectile conditions, CCBP presents varying degrees of dorsal curve and shortage of penile skin. Dysgenetic fundiform ligaments were found to be attached to the distal or middle shaft of the penis in all patients. All wounds healed well and the cosmetic outcome was good at 6-month follow-up after the repair. The appearance of the dorsal curve in

  2. Genetic Code Analysis Toolkit: A novel tool to explore the coding properties of the genetic code and DNA sequences

    Science.gov (United States)

    Kraljić, K.; Strüngmann, L.; Fimmel, E.; Gumbel, M.

    2018-01-01

    The genetic code is degenerated and it is assumed that redundancy provides error detection and correction mechanisms in the translation process. However, the biological meaning of the code's structure is still under current research. This paper presents a Genetic Code Analysis Toolkit (GCAT) which provides workflows and algorithms for the analysis of the structure of nucleotide sequences. In particular, sets or sequences of codons can be transformed and tested for circularity, comma-freeness, dichotomic partitions and others. GCAT comes with a fertile editor custom-built to work with the genetic code and a batch mode for multi-sequence processing. With the ability to read FASTA files or load sequences from GenBank, the tool can be used for the mathematical and statistical analysis of existing sequence data. GCAT is Java-based and provides a plug-in concept for extensibility. Availability: Open source Homepage:http://www.gcat.bio/

  3. The effect and correction of coupling generated by the RHIC triplet quadrupoles

    International Nuclear Information System (INIS)

    Pilat, F.; Peggs, S.; Tepikian, S.; Trbojevic, D.; Wei, J.

    1995-01-01

    This study explores the possibility of operating the nominal RHIC coupling correction system in local decoupling mode, where a subset of skew quadrupoles are independently set by minimizing the coupling as locally measured by beam position monitors. The goal is to establish a correction procedure for the skew quadrupole errors in the interaction region triplets that does not rely on a priori knowledge of the individual errors. After a description of the present coupling correction scheme envisioned for RHIC, the basics of the local decoupling method will be briefly recalled in the context of its implementation in the TEAPOT simulation code as well as operationally. The method is then applied to the RHIC lattice: a series of simple tests establish that single triplet skew quadrupole errors can be corrected by local decoupling. More realistic correction schemes are then studied in order to correct distributed sources of skew quadrupole errors: the machine can be decoupled either by pure local decoupling or by a combination of global (minimum tune separation) and local decoupling. The different correction schemes are successively validated and evaluated by standard RHIC simulation runs with the complete set of errors and corrections. The different solutions and results are finally discussed together with their implications for the hardware

  4. Streamlined Approach for Environmental Restoration Work Plan for Corrective Action Unit 461: Joint Test Assembly Sites and Corrective Action Unit 495: Unconfirmed Joint Test Assembly Sites Tonopah Test Range, Nevada

    Energy Technology Data Exchange (ETDEWEB)

    Jeff Smith

    1998-08-01

    This Streamlined Approach for Environmental Restoration plan addresses the action necessary for the clean closure of Corrective Action Unit 461 (Test Area Joint Test Assembly Sites) and Corrective Action Unit 495 (Unconfirmed Joint Test Assembly Sites). The Corrective Action Units are located at the Tonopah Test Range in south central Nevada. Closure for these sites will be completed by excavating and evaluating the condition of each artillery round (if found); detonating the rounds (if necessary); excavating the impacted soil and debris; collecting verification samples; backfilling the excavations; disposing of the impacted soil and debris at an approved low-level waste repository at the Nevada Test Site

  5. Closure Report for Corrective Action Unit 562: Waste Systems, Nevada National Security Site, Nevada

    Energy Technology Data Exchange (ETDEWEB)

    NSTec Environmental Restoration

    2012-08-15

    This Closure Report (CR) presents information supporting closure of Corrective Action Unit (CAU) 562, Waste Systems, and provides documentation supporting the completed corrective actions and confirmation that closure objectives for CAU 562 were met. This CR complies with the requirements of the Federal Facility Agreement and Consent Order (FFACO) that was agreed to by the State of Nevada; the U.S. Department of Energy (DOE), Environmental Management; the U.S. Department of Defense; and DOE, Legacy Management (FFACO, 1996 as amended). CAU 562 consists of the following 13 Corrective Action Sites (CASs), located in Areas 2, 23, and 25 of the Nevada National Security Site: · CAS 02-26-11, Lead Shot · CAS 02-44-02, Paint Spills and French Drain · CAS 02-59-01, Septic System · CAS 02-60-01, Concrete Drain · CAS 02-60-02, French Drain · CAS 02-60-03, Steam Cleaning Drain · CAS 02-60-04, French Drain · CAS 02-60-05, French Drain · CAS 02-60-06, French Drain · CAS 02-60-07, French Drain · CAS 23-60-01, Mud Trap Drain and Outfall · CAS 23-99-06, Grease Trap · CAS 25-60-04, Building 3123 Outfalls Closure activities began in October 2011 and were completed in April 2012. Activities were conducted according to the Corrective Action Plan for CAU 562 (U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office [NNSA/NSO], 2011). The corrective actions included No Further Action and Clean Closure. Closure activities generated sanitary waste and hazardous waste. Some wastes exceeded land disposal limits and required offsite treatment prior to disposal. Other wastes met land disposal restrictions and were disposed in appropriate onsite or offsite landfills. NNSA/NSO requests the following: · A Notice of Completion from the Nevada Division of Environmental Protection to NNSA/NSO for closure of CAU 562 · The transfer of CAU 562 from Appendix III to Appendix IV, Closed Corrective Action Units, of the FFACO

  6. Genetic technologies and ethics.

    Science.gov (United States)

    Ardekani, Ali M

    2009-01-01

    In the past decade, the human genome has been completely sequenced and the knowledge from it has begun to influence the fields of biological and social sciences in fundamental ways. Identification of about 25000 genes in the human genome is expected to create great benefits in diagnosis and treatment of diseases in the coming years. However, Genetic technologies have also created many interesting and difficult ethical issues which can affect the human societies now and in the future. Application of genetic technologies in the areas of stem cells, cloning, gene therapy, genetic manipulation, gene selection, sex selection and preimplantation diagnosis has created a great potential for the human race to influence and change human life on earth as we know it today. Therefore, it is important for leaders of societies in the modern world to pay attention to the advances in genetic technologies and prepare themselves and those institutions under their command to face the challenges which these new technologies induce in the areas of ethics, law and social policies.

  7. How and how much does RAD-seq bias genetic diversity estimates?

    Science.gov (United States)

    Cariou, Marie; Duret, Laurent; Charlat, Sylvain

    2016-11-08

    RAD-seq is a powerful tool, increasingly used in population genomics. However, earlier studies have raised red flags regarding possible biases associated with this technique. In particular, polymorphism on restriction sites results in preferential sampling of closely related haplotypes, so that RAD data tends to underestimate genetic diversity. Here we (1) clarify the theoretical basis of this bias, highlighting the potential confounding effects of population structure and selection, (2) confront predictions to real data from in silico digestion of full genomes and (3) provide a proof of concept toward an ABC-based correction of the RAD-seq bias. Under a neutral and panmictic model, we confirm the previously established relationship between the true polymorphism and its RAD-based estimation, showing a more pronounced bias when polymorphism is high. Using more elaborate models, we show that selection, resulting in heterogeneous levels of polymorphism along the genome, exacerbates the bias and leads to a more pronounced underestimation. On the contrary, spatial genetic structure tends to reduce the bias. We confront the neutral and panmictic model to "ideal" empirical data (in silico RAD-sequencing) using full genomes from natural populations of the fruit fly Drosophila melanogaster and the fungus Shizophyllum commune, harbouring respectively moderate and high genetic diversity. In D. melanogaster, predictions fit the model, but the small difference between the true and RAD polymorphism makes this comparison insensitive to deviations from the model. In the highly polymorphic fungus, the model captures a large part of the bias but makes inaccurate predictions. Accordingly, ABC corrections based on this model improve the estimations, albeit with some imprecisions. The RAD-seq underestimation of genetic diversity associated with polymorphism in restriction sites becomes more pronounced when polymorphism is high. In practice, this means that in many systems where

  8. Using genetic information while protecting the privacy of the soul.

    Science.gov (United States)

    Moor, J H

    1999-01-01

    Computing plays an important role in genetics (and vice versa). Theoretically, computing provides a conceptual model for the function and malfunction of our genetic machinery. Practically, contemporary computers and robots equipped with advanced algorithms make the revelation of the complete human genome imminent--computers are about to reveal our genetic souls for the first time. Ethically, computers help protect privacy by restricting access in sophisticated ways to genetic information. But the inexorable fact that computers will increasingly collect, analyze, and disseminate abundant amounts of genetic information made available through the genetic revolution, not to mention that inexpensive computing devices will make genetic information gathering easier, underscores the need for strong and immediate privacy legislation.

  9. Genes, Culture and Conservatism-A Psychometric-Genetic Approach.

    Science.gov (United States)

    Schwabe, Inga; Jonker, Wilfried; van den Berg, Stéphanie M

    2016-07-01

    The Wilson-Patterson conservatism scale was psychometrically evaluated using homogeneity analysis and item response theory models. Results showed that this scale actually measures two different aspects in people: on the one hand people vary in their agreement with either conservative or liberal catch-phrases and on the other hand people vary in their use of the "?" response category of the scale. A 9-item subscale was constructed, consisting of items that seemed to measure liberalism, and this subscale was subsequently used in a biometric analysis including genotype-environment interaction, correcting for non-homogeneous measurement error. Biometric results showed significant genetic and shared environmental influences, and significant genotype-environment interaction effects, suggesting that individuals with a genetic predisposition for conservatism show more non-shared variance but less shared variance than individuals with a genetic predisposition for liberalism.

  10. Correcting estimators of theta and Tajima's D for ascertainment biases caused by the single-nucleotide polymorphism discovery process

    DEFF Research Database (Denmark)

    Ramírez-Soriano, Anna; Nielsen, Rasmus

    2009-01-01

    Most single-nucleotide polymorphism (SNP) data suffer from an ascertainment bias caused by the process of SNP discovery followed by SNP genotyping. The final genotyped data are biased toward an excess of common alleles compared to directly sequenced data, making standard genetic methods of analysis...... the variances and covariances of these estimators and provide a corrected version of Tajima's D statistic. We reanalyze a human genomewide SNP data set and find substantial differences in the results with or without ascertainment bias correction....

  11. Complete sequence and comparative analysis of the chloroplast genome of Plinia trunciflora

    Directory of Open Access Journals (Sweden)

    Maria Eguiluz

    2017-11-01

    Full Text Available Abstract Plinia trunciflora is a Brazilian native fruit tree from the Myrtaceae family, also known as jaboticaba. This species has great potential by its fruit production. Due to the high content of essential oils in their leaves and of anthocyanins in the fruits, there is also an increasing interest by the pharmaceutical industry. Nevertheless, there are few studies focusing on its molecular biology and genetic characterization. We herein report the complete chloroplast (cp genome of P. trunciflora using high-throughput sequencing and compare it to other previously sequenced Myrtaceae genomes. The cp genome of P. trunciflora is 159,512 bp in size, comprising inverted repeats of 26,414 bp and single-copy regions of 88,097 bp (LSC and 18,587 bp (SSC. The genome contains 111 single-copy genes (77 protein-coding, 30 tRNA and four rRNA genes. Phylogenetic analysis using 57 cp protein-coding genes demonstrated that P. trunciflora, Eugenia uniflora and Acca sellowiana form a cluster with closer relationship to Syzygium cumini than with Eucalyptus. The complete cp sequence reported here can be used in evolutionary and population genetics studies, contributing to resolve the complex taxonomy of this species and fill the gap in genetic characterization.

  12. Complete sequence and comparative analysis of the chloroplast genome of Plinia trunciflora

    Science.gov (United States)

    Eguiluz, Maria; Yuyama, Priscila Mary; Guzman, Frank; Rodrigues, Nureyev Ferreira; Margis, Rogerio

    2017-01-01

    Abstract Plinia trunciflora is a Brazilian native fruit tree from the Myrtaceae family, also known as jaboticaba. This species has great potential by its fruit production. Due to the high content of essential oils in their leaves and of anthocyanins in the fruits, there is also an increasing interest by the pharmaceutical industry. Nevertheless, there are few studies focusing on its molecular biology and genetic characterization. We herein report the complete chloroplast (cp) genome of P. trunciflora using high-throughput sequencing and compare it to other previously sequenced Myrtaceae genomes. The cp genome of P. trunciflora is 159,512 bp in size, comprising inverted repeats of 26,414 bp and single-copy regions of 88,097 bp (LSC) and 18,587 bp (SSC). The genome contains 111 single-copy genes (77 protein-coding, 30 tRNA and four rRNA genes). Phylogenetic analysis using 57 cp protein-coding genes demonstrated that P. trunciflora, Eugenia uniflora and Acca sellowiana form a cluster with closer relationship to Syzygium cumini than with Eucalyptus. The complete cp sequence reported here can be used in evolutionary and population genetics studies, contributing to resolve the complex taxonomy of this species and fill the gap in genetic characterization. PMID:29111566

  13. Complete sequence and comparative analysis of the chloroplast genome of Plinia trunciflora.

    Science.gov (United States)

    Eguiluz, Maria; Yuyama, Priscila Mary; Guzman, Frank; Rodrigues, Nureyev Ferreira; Margis, Rogerio

    2017-01-01

    Plinia trunciflora is a Brazilian native fruit tree from the Myrtaceae family, also known as jaboticaba. This species has great potential by its fruit production. Due to the high content of essential oils in their leaves and of anthocyanins in the fruits, there is also an increasing interest by the pharmaceutical industry. Nevertheless, there are few studies focusing on its molecular biology and genetic characterization. We herein report the complete chloroplast (cp) genome of P. trunciflora using high-throughput sequencing and compare it to other previously sequenced Myrtaceae genomes. The cp genome of P. trunciflora is 159,512 bp in size, comprising inverted repeats of 26,414 bp and single-copy regions of 88,097 bp (LSC) and 18,587 bp (SSC). The genome contains 111 single-copy genes (77 protein-coding, 30 tRNA and four rRNA genes). Phylogenetic analysis using 57 cp protein-coding genes demonstrated that P. trunciflora, Eugenia uniflora and Acca sellowiana form a cluster with closer relationship to Syzygium cumini than with Eucalyptus. The complete cp sequence reported here can be used in evolutionary and population genetics studies, contributing to resolve the complex taxonomy of this species and fill the gap in genetic characterization.

  14. Nurses' knowledge and educational needs regarding genetics.

    Science.gov (United States)

    Seven, Memnun; Akyüz, Aygül; Elbüken, Burcu; Skirton, Heather; Öztürk, Hatice

    2015-03-01

    Nurses now require a basic knowledge of genetics to provide patient care in a range of settings. To determine Turkish registered nurses' current knowledge and educational needs in relation to genetics. A descriptive, cross-sectional study. Turkish registered nurses working in a university hospital in Turkey were recruited. All registered nurses were invited to participate and 175 completed the study. The survey instrument, basic knowledge of health genetics, confidence in knowledge and the nurses' need for genetics education were used to collect data. The majority (81.1%, n=142) of participants indicated that genetics was not taught during their degree program, although 53.1% to 96% of respondents felt confident in defining different genetic concepts. The average genetics knowledge score was 6.89±1.99 of a possible 11 (range 0-11). The majority (70.3%) expressed a strong wish to attend a continuing nursing education program in genetics. The study shows that although Turkish nurses are not sufficiently knowledgeable to apply genetics in practice, they are willing to have more education to support their care of patients. Nurses need to have more education related to genetics in accordance with advances in human genetics to optimize health care. Copyright © 2014 Elsevier Ltd. All rights reserved.

  15. Complete mitochondrial genome of freshwater shark Wallago attu (Bloch & Schneider) from Indus River Sindh, Pakistan.

    Science.gov (United States)

    Laghari, Muhammad Younis; Lashari, Punhal; Xu, Peng; Zhao, Zixia; Jiang, Li; Narejo, Naeem Tariq; Xin, Baoping; Sun, Xiaowen; Zhang, Yan

    2016-01-01

    Complete mitochondrial genome of fresh water giant catfish, Wallago attu, was isolated by LA PCR (TakaRa LAtaq, Dalian, China); and sequenced by Sanger's method to obtain the complete mitochondrial genome. The complete mitogenome was 15,639 bp in length and contains 13 typical vertebrate protein-coding genes, 2 rRNA and 22 tRNA genes. The whole genome base composition was estimated to be 31.17% A, 28.15% C, 15.55% G and 25.12% T. The complete mitochondrial genome of catfish, W. attu, provides the fundamental tools for genetic breeding.

  16. Complete chloroplast genome sequence of a major economic species, Ziziphus jujuba (Rhamnaceae).

    Science.gov (United States)

    Ma, Qiuyue; Li, Shuxian; Bi, Changwei; Hao, Zhaodong; Sun, Congrui; Ye, Ning

    2017-02-01

    Ziziphus jujuba is an important woody plant with high economic and medicinal value. Here, we analyzed and characterized the complete chloroplast (cp) genome of Z. jujuba, the first member of the Rhamnaceae family for which the chloroplast genome sequence has been reported. We also built a web browser for navigating the cp genome of Z. jujuba ( http://bio.njfu.edu.cn/gb2/gbrowse/Ziziphus_jujuba_cp/ ). Sequence analysis showed that this cp genome is 161,466 bp long and has a typical quadripartite structure of large (LSC, 89,120 bp) and small (SSC, 19,348 bp) single-copy regions separated by a pair of inverted repeats (IRs, 26,499 bp). The sequence contained 112 unique genes, including 78 protein-coding genes, 30 transfer RNAs, and four ribosomal RNAs. The genome structure, gene order, GC content, and codon usage are similar to other typical angiosperm cp genomes. A total of 38 tandem repeats, two forward repeats, and three palindromic repeats were detected in the Z. jujuba cp genome. Simple sequence repeat (SSR) analysis revealed that most SSRs were AT-rich. The homopolymer regions in the cp genome of Z. jujuba were verified and manually corrected by Sanger sequencing. One-third of mononucleotide repeats were found to be erroneously sequenced by the 454 pyrosequencing, which resulted in sequences of 1-4 bases shorter than that by the Sanger sequencing. Analyzing the cp genome of Z. jujuba revealed that the IR contraction and expansion events resulted in ycf1 and rps19 pseudogenes. A phylogenetic analysis based on 64 protein-coding genes showed that Z. jujuba was closely related to members of the Elaeagnaceae family, which will be helpful for phylogenetic studies of other Rosales species. The complete cp genome sequence of Z. jujuba will facilitate population, phylogenetic, and cp genetic engineering studies of this economic plant.

  17. METHODS FOR CORRECTION OF RHINOPHONIA IN PATIENTS WITH ACQUIRED MAXILLARY DEFECTS

    Directory of Open Access Journals (Sweden)

    E. G. Matyakin

    2012-01-01

    Full Text Available Speech recovery sessions were conducted in 63 patients with acquired maxillary defects. Assessment of speech quality in patients after auditory maxillary resection without a prosthestic has indicated 100 % significant rhinolalia, indistinct articulation. Prosthetic defect replacement completely corrects speech dysfunction and creates conditions for forming correct speech stereotypes. Speech therapy sessions and testing are aimed at increasing the performance of the speech apparatus and at improving the automatizaton of speaking skills. The techniques to remove nasal emission include: – articulation exercises (activation of the muscles of the lips, cheeks, tongue, pharynx, neck, and larynx; – speech respiratory gymnastics; – phonopedic (vocal exercises. The elements of rational psychotherapy have extensive applications during each session and include suggestion, an emotional exposure to correct personality disorders, as well as pedagogical elements. 

  18. Dual agency and ethics conflicts in correctional practice: sources and solutions.

    Science.gov (United States)

    Cervantes, Ana Natasha; Hanson, Annette

    2013-01-01

    Psychiatrists working in corrections, particularly in areas that have a shortage of forensic practitioners, may encounter a variety of ethics-related conflicts, especially when working both as clinicians and forensic evaluators within smaller systems. Such conflicts may include unavoidable dual treating and forensic evaluator relationships, and awareness of information that may complicate patient treatment or influence forensic opinions. Additional conflicts may arise if the psychiatrist is also retained privately to conduct forensic evaluations involving inmates in the same facility or facilities where the psychiatrist is otherwise employed, specifically because he may have duties to both a retaining party and an employer. Early-career psychiatrists, those who are completing their training in forensic psychiatry, and general psychiatrists who practice in corrections may be unfamiliar with the ethics-related dilemmas that arise in jails or prisons. Ethics courses during medical school and residency, while required, rarely discuss dilemmas specific to correctional settings. Furthermore, many psychiatrists practicing in corrections do not undergo formal training in forensic psychiatry, and even among different fellowship programs, the amount of time devoted to corrections varies significantly. The authors discuss hypothetical cases that reflect situations encountered, particularly by psychiatric fellows, forensic psychiatrists new to correctional work, and nonforensic clinicians working in corrections, a setting where dual agency is common and at times in conflict with core principles of ethics, including beneficence, nonmaleficence, neutrality, objectivity, and justice.

  19. An extremely rare clinical entity: congenitally corrected transposition with situs ınversus and single coronary artery presented with complete atrioventricular block in a young man.

    Science.gov (United States)

    Cirakoglu, Omer Faruk; Bayraktar, Ali; Sayin, Muhammet Rasit

    2018-05-01

    Congenitally corrected transposition of the great arteries is a rare form of CHD. Situs inversus is a much less common variant of a congenitally corrected transposition of the great arteries. In rare cases, transposition events may be accompanied by various cardiac anomalies. However, situs inversus patients with congenitally corrected transposition, single coronary artery anomaly, and atrioventricular block together have not been reported previously. This combination of abnormalities is presented as a first in the literature.

  20. Personality and divorce: a genetic analysis.

    Science.gov (United States)

    Jocklin, V; McGue, M; Lykken, D T

    1996-08-01

    M. McGue and D.T. Lykken (1992) found that divorce risk was, to a substantial degree, genetically mediated; prior research has identified numerous social and psychological factors that affect divorce risk (G.C. Kitson, K.B. Barbi, & M.J. Roach, 1985). The present study attempted to link these domains by examining the extent to which genetic influences on one such psychological factor, personality, explain divorce risk heritability. A sample of adult twins from the Minnesota Twin Registry completed a marital history questionnaire and the Multidimensional Personality Questionnaire (A. Tellegen, 1982). Positive Emotionality and Negative Emotionality factors were positively related to divorce risk, whereas Constraint was negatively related. In women and men, respectively, 30% and 42% of the heritability of divorce risk consisted of genetic factors affecting personality and divorce risk correlated largely as a result of these common genetic influences.

  1. A complete mitochondrial genome sequence from a mesolithic wild aurochs (Bos primigenius.

    Directory of Open Access Journals (Sweden)

    Ceiridwen J Edwards

    Full Text Available BACKGROUND: The derivation of domestic cattle from the extinct wild aurochs (Bos primigenius has been well-documented by archaeological and genetic studies. Genetic studies point towards the Neolithic Near East as the centre of origin for Bos taurus, with some lines of evidence suggesting possible, albeit rare, genetic contributions from locally domesticated wild aurochsen across Eurasia. Inferences from these investigations have been based largely on the analysis of partial mitochondrial DNA sequences generated from modern animals, with limited sequence data from ancient aurochsen samples. Recent developments in DNA sequencing technologies, however, are affording new opportunities for the examination of genetic material retrieved from extinct species, providing new insight into their evolutionary history. Here we present DNA sequence analysis of the first complete mitochondrial genome (16,338 base pairs from an archaeologically-verified and exceptionally-well preserved aurochs bone sample. METHODOLOGY: DNA extracts were generated from an aurochs humerus bone sample recovered from a cave site located in Derbyshire, England and radiocarbon-dated to 6,738+/-68 calibrated years before present. These extracts were prepared for both Sanger and next generation DNA sequencing technologies (Illumina Genome Analyzer. In total, 289.9 megabases (22.48% of the post-filtered DNA sequences generated using the Illumina Genome Analyzer from this sample mapped with confidence to the bovine genome. A consensus B. primigenius mitochondrial genome sequence was constructed and was analysed alongside all available complete bovine mitochondrial genome sequences. CONCLUSIONS: For all nucleotide positions where both Sanger and Illumina Genome Analyzer sequencing methods gave high-confidence calls, no discrepancies were observed. Sequence analysis reveals evidence of heteroplasmy in this sample and places this mitochondrial genome sequence securely within a previously

  2. A complete mitochondrial genome sequence from a mesolithic wild aurochs (Bos primigenius).

    LENUS (Irish Health Repository)

    Edwards, Ceiridwen J

    2010-01-01

    BACKGROUND: The derivation of domestic cattle from the extinct wild aurochs (Bos primigenius) has been well-documented by archaeological and genetic studies. Genetic studies point towards the Neolithic Near East as the centre of origin for Bos taurus, with some lines of evidence suggesting possible, albeit rare, genetic contributions from locally domesticated wild aurochsen across Eurasia. Inferences from these investigations have been based largely on the analysis of partial mitochondrial DNA sequences generated from modern animals, with limited sequence data from ancient aurochsen samples. Recent developments in DNA sequencing technologies, however, are affording new opportunities for the examination of genetic material retrieved from extinct species, providing new insight into their evolutionary history. Here we present DNA sequence analysis of the first complete mitochondrial genome (16,338 base pairs) from an archaeologically-verified and exceptionally-well preserved aurochs bone sample. METHODOLOGY: DNA extracts were generated from an aurochs humerus bone sample recovered from a cave site located in Derbyshire, England and radiocarbon-dated to 6,738+\\/-68 calibrated years before present. These extracts were prepared for both Sanger and next generation DNA sequencing technologies (Illumina Genome Analyzer). In total, 289.9 megabases (22.48%) of the post-filtered DNA sequences generated using the Illumina Genome Analyzer from this sample mapped with confidence to the bovine genome. A consensus B. primigenius mitochondrial genome sequence was constructed and was analysed alongside all available complete bovine mitochondrial genome sequences. CONCLUSIONS: For all nucleotide positions where both Sanger and Illumina Genome Analyzer sequencing methods gave high-confidence calls, no discrepancies were observed. Sequence analysis reveals evidence of heteroplasmy in this sample and places this mitochondrial genome sequence securely within a previously identified

  3. Complete genome sequence of Klebsiella pneumoniae J1, a protein-based microbial flocculant-producing bacterium.

    Science.gov (United States)

    Pang, Changlong; Li, Ang; Cui, Di; Yang, Jixian; Ma, Fang; Guo, Haijuan

    2016-02-20

    Klebsiella pneumoniae J1 is a Gram-negative strain, which belongs to a protein-based microbial flocculant-producing bacterium. However, little genetic information is known about this species. Here we carried out a whole-genome sequence analysis of this strain and report the complete genome sequence of this organism and its genetic basis for carbohydrate metabolism, capsule biosynthesis and transport system. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. Real-time distortion correction for visual inspection systems based on FPGA

    Science.gov (United States)

    Liang, Danhua; Zhang, Zhaoxia; Chen, Xiaodong; Yu, Daoyin

    2008-03-01

    Visual inspection is a kind of new technology based on the research of computer vision, which focuses on the measurement of the object's geometry and location. It can be widely used in online measurement, and other real-time measurement process. Because of the defects of the traditional visual inspection, a new visual detection mode -all-digital intelligent acquisition and transmission is presented. The image processing, including filtering, image compression, binarization, edge detection and distortion correction, can be completed in the programmable devices -FPGA. As the wide-field angle lens is adopted in the system, the output images have serious distortion. Limited by the calculating speed of computer, software can only correct the distortion of static images but not the distortion of dynamic images. To reach the real-time need, we design a distortion correction system based on FPGA. The method of hardware distortion correction is that the spatial correction data are calculated first under software circumstance, then converted into the address of hardware storage and stored in the hardware look-up table, through which data can be read out to correct gray level. The major benefit using FPGA is that the same circuit can be used for other circularly symmetric wide-angle lenses without being modified.

  5. Corrective Action Decision Document for Corrective Action Unit 536: Area 3 Release Site, Nevada Test Site, Nevada, Revision 0 with Errata

    Energy Technology Data Exchange (ETDEWEB)

    Boehlecke, Robert

    2004-11-01

    This Corrective Action Decision Document (CADD) has been prepared for Corrective Action Unit (CAU) 536: Area 3 Release Site, Nevada Test Site (NTS), Nevada, in accordance with the Federal Facility Agreement and Consent Order (FFACO) that was agreed to by the State of Nevada, the U.S. Department of Energy (DOE), and the U.S Department of Defense (FFACO, 1996). The NTS is approximately 65 miles (mi) northwest of Las Vegas, Nevada (Figure 1-1). Corrective Action Unit 536 is comprised of a single Corrective Action Site (CAS), 03-44-02, Steam Jenny Discharge, and is located in Area 3 of the NTS (Figure 1-2). The CAU was investigated in accordance with the Corrective Action Investigation Plan (CAIP) and Record of Technical Change (ROTC) No. 1 (NNSA/NV, 2003). The CADD provides or references the specific information necessary to support the recommended corrective action alternative selected to complete closure of the site. The CAU 536, Area 3 Release Site, includes the Steam Jenny Discharge (CAS 03-44-02) that was historically used for steam cleaning equipment in the Area 3 Camp. Concerns at this CAS include contaminants commonly associated with steam cleaning operations and Area 3 Camp activities that include total petroleum hydrocarbons (TPH), unspecified solvents, radionuclides, metals, and polychlorinated biphenyls (PCBs). The CAIP for Corrective Action Unit 536: Area 3 Release Site, Nevada Test Site, Nevada (NNSA/NV, 2003), provides additional information relating to the history, planning, and scope of the investigation; therefore, it will not be repeated in this CADD. This CADD identifies potential corrective action alternatives and provides a rationale for the selection of a recommended corrective action alternative for the CAS within CAU 536. The evaluation of corrective action alternatives is based on process knowledge and the results of the investigative activities conducted in accordance with the CAIP (NNSA/NV, 2003) that was approved prior to the start of the

  6. Genetic, molecular and functional analyses of complement factor I deficiency

    DEFF Research Database (Denmark)

    Nilsson, S.C.; Trouw, L.A.; Renault, N.

    2009-01-01

    Complete deficiency of complement inhibitor factor I (FI) results in secondary complement deficiency due to uncontrolled spontaneous alternative pathway activation leading to susceptibility to infections. Current genetic examination of two patients with near complete FI deficiency and three patie...

  7. Isolated complete bitemporal hemianopia in traumatic chiasmal syndrome

    Directory of Open Access Journals (Sweden)

    Dai Woo Kim

    2013-01-01

    Full Text Available A 29-year-old man presented with a chief complaint of lateral blindness in the left eye at 4 months after an accidental fall. His best corrected visual acuity was 0.7 in the left eye and 1.0 in the right eye. Visual field test showed a complete bitemporal hemianopic defect without any neurologic symptoms. An orbital computed tomography scan with non-enhancement conducted at the time of the visit showed multiple frontal skull fractures and cerebromalacia a small fracture in the sphenoidal boneboth frontal lobes. No radiological abnormalities of the visual pathway were detected. Optical coherence showed reduced thickness in the retinal nerve fiber layer, primarily in the superior and inferior part of the left eye. To our knowledge, a complete bitemporal hemianopia without neurological deficits is extremely rare in traumatic chiasmal syndrome.

  8. Association of education & lifestyle factors with the perception of genetic knowledge on the development of lung cancer

    Directory of Open Access Journals (Sweden)

    Liang Wang

    2016-01-01

    Full Text Available Background & objectives: The perception of genetic knowledge is useful for improving the heath behaviour change against developing cancers. However, no studies have investigated the perception of genetic knowledge on the development of lung cancer. The aim of this study was to examine demographic and lifestyle factors of the perception of genetic knowledge on the development of lung cancer. Methods: Data on 2,295 US adults (739 had the perception of genetic knowledge were taken from the 2003 Health Information National Trends Survey. Multiple logistic regression models were used to evaluate potential factors of the perception of genetic knowledge of lung cancer. Results: Participants aged ≥65 yr were more likely to have the perception of genetic knowledge than those aged 18-44 yr (OR=1.77, 95% CI=1.27-2.46. Higher education was associated with a greater perception of genetic knowledge (OR=1.47, 95% CI=1.16-1.87. Subjects with correct smoking attitude were more than three times more likely to have the perception of genetic knowledge (OR=3.15, 95% CI=2.10-4.72. Subjects with exercise were at an increased likelihood of having the perception of genetic knowledge than those without exercise (OR=1.63, 95% CI=1.24-2.13. Interpretation & conclusions: Positive associations were observed between education and lifestyle factors and the perception of genetic knowledge on the development of lung cancer among US adults. Strategies developed to improve the perception of genetic knowledge of lung cancer may target on individuals who are young, less educated, and lack correct smoking attitude or exercise.

  9. Corrective Action Plan for Corrective Action Unit 407: Roller Coaster RADSAFE Area, Tonopah Test Range, Nevada

    Energy Technology Data Exchange (ETDEWEB)

    T. M. Fitzmaurice

    2000-05-01

    This Corrective Action Plan (CAP) has been prepared for the Roller Coaster RADSAFE Area Corrective Action Unit 407 in accordance with the Federal Facility and Consent Order (Nevada Division of Environmental Protection [NDEP] et al., 1996). This CAP provides the methodology for implementing the approved Corrective Action Alternative as listed in the Corrective Action Decision Document (U.S. Department of Energy, Nevada Operations Office, 1999). The RCRSA was used during May and June of 1963 to decontaminate vehicles, equipment, and personnel from the Clean Slate tests. The Constituents of Concern (COCs) identified during the site characterization include plutonium, uranium, and americium. No other COCS were identified. The following closure actions will be implemented under this plan: (1) Remove and dispose of surface soils which are over three times background for the area. Soils identified for removal will be disposed of at an approved disposal facility. Excavated areas will be backfilled with clean borrow soil fi-om a nearby location. (2) An engineered cover will be constructed over the waste disposal pit area where subsurface COCS will remain. (3) Upon completion of the closure and approval of the Closure Report by NDEP, administrative controls, use restrictions, and site postings will be used to prevent intrusive activities at the site. Barbed wire fencing will be installed along the perimeter of this unit. Post closure monitoring will consist of site inspections to determine the condition of the engineered cover. Any identified maintenance and repair requirements will be remedied within 90 working days of discovery and documented in writing at the time of repair. Results of all inspections/repairs for a given year will be addressed in a single report submitted annually to the NDEP.

  10. Corrective Action Decision Document for Corrective Action Unit 417: Central Nevada Test Area Surface, Nevada

    International Nuclear Information System (INIS)

    1999-01-01

    This Corrective Action Decision Document (CADD) identifies and rationalizes the U.S. Department of Energy, Nevada Operations Office's selection of a recommended corrective action alternative (CAA) appropriate to facilitate the closure of Corrective Action Unit (CAU) 417: Central Nevada Test Area Surface, Nevada, under the Federal Facility Agreement and Consent Order. Located in Hot Creek Valley in Nye County, Nevada, and consisting of three separate land withdrawal areas (UC-1, UC-3, and UC-4), CAU 417 is comprised of 34 corrective action sites (CASs) including 2 underground storage tanks, 5 septic systems, 8 shaker pad/cuttings disposal areas, 1 decontamination facility pit, 1 burn area, 1 scrap/trash dump, 1 outlier area, 8 housekeeping sites, and 16 mud pits. Four field events were conducted between September 1996 and June 1998 to complete a corrective action investigation indicating that the only contaminant of concern was total petroleum hydrocarbon (TPH) which was found in 18 of the CASs. A total of 1,028 samples were analyzed. During this investigation, a statistical approach was used to determine which depth intervals or layers inside individual mud pits and shaker pad areas were above the State action levels for the TPH. Other related field sampling activities (i.e., expedited site characterization methods, surface geophysical surveys, direct-push geophysical surveys, direct-push soil sampling, and rotosonic drilling located septic leachfields) were conducted in this four-phase investigation; however, no further contaminants of concern (COCs) were identified. During and after the investigation activities, several of the sites which had surface debris but no COCs were cleaned up as housekeeping sites, two septic tanks were closed in place, and two underground storage tanks were removed. The focus of this CADD was to identify CAAs which would promote the prevention or mitigation of human exposure to surface and subsurface soils with contaminant

  11. Anglo-Saxon experience in the implementation of correctional treatment and the Polish individual rehabilitation program

    Directory of Open Access Journals (Sweden)

    Maciej Bernasiewicz

    2012-12-01

    Full Text Available The authors cite American and British research on the effectiveness of correctional treatment. On that basis, they describe several crucial factors that affect the success of rehabilitation (e.g., educators’ skills, working with families of juvenile offenders. The article broadly discusses the specific juvenile residential treatment program that has been implemented in Florida. The conclusions of this program are drawn from the research conducted through interviews with juvenile offenders (young adults who have effectively completed the process of rehabilitation in correctional facilities. Furthermore, the authors discuss an individual program of rehabilitation (IPR implemented in Polish correctional facilities. Using the experience and the impact of correctional treatment in the West, it is proposed to introduce certain modifications in the planning and implementation of Polish correctional treatment programs (IPR s.

  12. Precise correction of the dystrophin gene in duchenne muscular dystrophy patient induced pluripotent stem cells by TALEN and CRISPR-Cas9.

    Science.gov (United States)

    Li, Hongmei Lisa; Fujimoto, Naoko; Sasakawa, Noriko; Shirai, Saya; Ohkame, Tokiko; Sakuma, Tetsushi; Tanaka, Michihiro; Amano, Naoki; Watanabe, Akira; Sakurai, Hidetoshi; Yamamoto, Takashi; Yamanaka, Shinya; Hotta, Akitsu

    2015-01-13

    Duchenne muscular dystrophy (DMD) is a severe muscle-degenerative disease caused by a mutation in the dystrophin gene. Genetic correction of patient-derived induced pluripotent stem cells (iPSCs) by TALENs or CRISPR-Cas9 holds promise for DMD gene therapy; however, the safety of such nuclease treatment must be determined. Using a unique k-mer database, we systematically identified a unique target region that reduces off-target sites. To restore the dystrophin protein, we performed three correction methods (exon skipping, frameshifting, and exon knockin) in DMD-patient-derived iPSCs, and found that exon knockin was the most effective approach. We further investigated the genomic integrity by karyotyping, copy number variation array, and exome sequencing to identify clones with a minimal mutation load. Finally, we differentiated the corrected iPSCs toward skeletal muscle cells and successfully detected the expression of full-length dystrophin protein. These results provide an important framework for developing iPSC-based gene therapy for genetic disorders using programmable nucleases. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  13. Genetic and Chemical Correction of Cholesterol Accumulation and Impaired Autophagy in Hepatic and Neural Cells Derived from Niemann-Pick Type C Patient-Specific iPS Cells

    Directory of Open Access Journals (Sweden)

    Dorothea Maetzel

    2014-06-01

    Full Text Available Niemann-Pick type C (NPC disease is a fatal inherited lipid storage disorder causing severe neurodegeneration and liver dysfunction with only limited treatment options for patients. Loss of NPC1 function causes defects in cholesterol metabolism and has recently been implicated in deregulation of autophagy. Here, we report the generation of isogenic pairs of NPC patient-specific induced pluripotent stem cells (iPSCs using transcription activator-like effector nucleases (TALENs. We observed decreased cell viability, cholesterol accumulation, and dysfunctional autophagic flux in NPC1-deficient human hepatic and neural cells. Genetic correction of a disease-causing mutation rescued these defects and directly linked NPC1 protein function to impaired cholesterol metabolism and autophagy. Screening for autophagy-inducing compounds in disease-affected human cells showed cell type specificity. Carbamazepine was found to be cytoprotective and effective in restoring the autophagy defects in both NPC1-deficient hepatic and neuronal cells and therefore may be a promising treatment option with overall benefit for NPC disease.

  14. Depression and work family conflict among corrections officers.

    Science.gov (United States)

    Obidoa, Chiwekwu; Reeves, David; Warren, Nicholas; Reisine, Susan; Cherniack, Martin

    2011-11-01

    This article assessed work-to-family conflict (W-FC) and family-to-work conflict (F-WC) and their impact on depression among corrections officers in two correctional facilities in the United States. The sample consisted of 220 officers who completed questionnaires that included data on demographics, sense of coherence (SOC), physical health, psychosocial job characteristics, and work-family conflict. The Center for Epidemiologic Studies Depression Scale (CES-D-10) assessed depression. The mean CES-D score was 7.8 (SD = 5.2); 31% had scores of 10 or more, indicative of serious psychological distress. The SOC, W-FC, and F-WC were significantly and positively associated with depression; W-FC mediated the effects of SOC on depression. Psychosocial job characteristics were not related to depression. Depressive symptoms were high among officers, and W-FC was a critical factor contributing to psychological distress.

  15. Evolution of Genetic Techniques: Past, Present, and Beyond

    Directory of Open Access Journals (Sweden)

    Asude Alpman Durmaz

    2015-01-01

    Full Text Available Genetics is the study of heredity, which means the study of genes and factors related to all aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in the mid-19th century. Prior to Mendel, genetics was primarily theoretical whilst, after Mendel, the science of genetics was broadened to include experimental genetics. Developments in all fields of genetics and genetic technology in the first half of the 20th century provided a basis for the later developments. In the second half of the 20th century, the molecular background of genetics has become more understandable. Rapid technological advancements, followed by the completion of Human Genome Project, have contributed a great deal to the knowledge of genetic factors and their impact on human life and diseases. Currently, more than 1800 disease genes have been identified, more than 2000 genetic tests have become available, and in conjunction with this at least 350 biotechnology-based products have been released onto the market. Novel technologies, particularly next generation sequencing, have dramatically accelerated the pace of biological research, while at the same time increasing expectations. In this paper, a brief summary of genetic history with short explanations of most popular genetic techniques is given.

  16. Prehistoric genomes reveal the genetic foundation and cost of horse domestication

    DEFF Research Database (Denmark)

    Schubert, Mikkel; Jáónsson, Hákon; Chang, Dan

    2014-01-01

    genetics alone. We therefore sequenced two complete horse genomes, predating domestication by thousands of years, to characterize the genetic footprint of domestication. These ancient genomes reveal predomestic population structure and a significant fraction of genetic variation shared with the domestic...... breeds but absent from Przewalski’s horses. We find positive selection on genes involved in various aspects of locomotion, physiology, and cognition. Finally, we show that modern horse genomes contain an excess of deleterious mutations, likely representing the genetic cost of domestication....

  17. [Surgical correction of cleft palate].

    Science.gov (United States)

    Kimura, F T; Pavia Noble, A; Soriano Padilla, F; Soto Miranda, A; Medellín Rodríguez, A

    1990-04-01

    This study presents a statistical review of corrective surgery for cleft palate, based on cases treated at the maxillo-facial surgery units of the Pediatrics Hospital of the Centro Médico Nacional and at Centro Médico La Raza of the National Institute of Social Security of Mexico, over a five-year period. Interdisciplinary management as performed at the Cleft-Palate Clinic, in an integrated approach involving specialists in maxillo-facial surgery, maxillar orthopedics, genetics, social work and mental hygiene, pursuing to reestablish the stomatological and psychological functions of children afflicted by cleft palate, is amply described. The frequency and classification of the various techniques practiced in that service are described, as well as surgical statistics for 188 patients, which include a total of 256 palate surgeries performed from March 1984 to March 1989, applying three different techniques and proposing a combination of them in a single surgical time, in order to avoid complementary surgery.

  18. Integrating paleoecology and genetics of bird populations in two sky island archipelagos.

    Science.gov (United States)

    McCormack, John E; Bowen, Bonnie S; Smith, Thomas B

    2008-06-27

    Genetic tests of paleoecological hypotheses have been rare, partly because recent genetic divergence is difficult to detect and time. According to fossil plant data, continuous woodland in the southwestern USA and northern Mexico became fragmented during the last 10,000 years, as warming caused cool-adapted species to retreat to high elevations. Most genetic studies of resulting 'sky islands' have either failed to detect recent divergence or have found discordant evidence for ancient divergence. We test this paleoecological hypothesis for the region with intraspecific mitochondrial DNA and microsatellite data from sky-island populations of a sedentary bird, the Mexican jay (Aphelocoma ultramarina). We predicted that populations on different sky islands would share common, ancestral alleles that existed during the last glaciation, but that populations on each sky island, owing to their isolation, would contain unique variants of postglacial origin. We also predicted that divergence times estimated from corrected genetic distance and a coalescence model would post-date the last glacial maximum. Our results provide multiple independent lines of support for postglacial divergence, with the predicted pattern of shared and unique mitochondrial DNA haplotypes appearing in two independent sky-island archipelagos, and most estimates of divergence time based on corrected genetic distance post-dating the last glacial maximum. Likewise, an isolation model based on multilocus gene coalescence indicated postglacial divergence of five pairs of sky islands. In contrast to their similar recent histories, the two archipelagos had dissimilar historical patterns in that sky islands in Arizona showed evidence for older divergence, suggesting different responses to the last glaciation. This study is one of the first to provide explicit support from genetic data for a postglacial divergence scenario predicted by one of the best paleoecological records in the world. Our results

  19. Correct Linearization of Einstein's Equations

    Directory of Open Access Journals (Sweden)

    Rabounski D.

    2006-06-01

    Full Text Available Regularly Einstein's equations can be reduced to a wave form (linearly dependent from the second derivatives of the space metric in the absence of gravitation, the space rotation and Christoffel's symbols. As shown here, the origin of the problem is that one uses the general covariant theory of measurement. Here the wave form of Einstein's equations is obtained in the terms of Zelmanov's chronometric invariants (physically observable projections on the observer's time line and spatial section. The obtained equations depend on solely the second derivatives even if gravitation, the space rotation and Christoffel's symbols. The correct linearization proves: the Einstein equations are completely compatible with weak waves of the metric.

  20. Surface excitation correction of electron IMFP of selected polymers

    International Nuclear Information System (INIS)

    Gergely, G.; Orosz, G.T.; Lesiak, B.; Jablonski, A.; Toth, J.; Varga, D.

    2004-01-01

    Complete text of publication follows. The IMFP [1] of selected polymers: polythiophenes, polyanilines, polyethylene (PE) [2] was determined by EPES [3] experiments, using Si, Ge and Ag (for PE) reference samples. Experiments were evaluated by Monte Carlo (MC) simulations [1] applying the NIST 64 (1996 and 2002) databases and IMFP data of Tanuma and Gries [1]. The integrated experimental elastic peak ratios of sample and reference are different from those calculated by Monte Carlo (MC) simulation [1]. The difference was attributed to the difference of surface excitation parameters (SEP) [4] of the sample and reference. The SEP parameters of the reference samples were taken from Chen and Werner. A new procedure was developed for experimental determination of the SEP parameters of polymer samples. It is a trial and error method for optimising the SEP correction of the IMFP and the correction of experimental elastic peak ratio [4]. Experiments made with a HSA spectrometer [5] covered the E = 0.2-2 keV energy range. The improvements with SEP correction appears in reduc- ing the difference between the corrected and MC calculated IMFPs, assuming Gries and Tanuma's et al IMFPs [1] for polymers and standard respectively. The experimental peak areas were corrected for the hydrogen peak. For the direct detection of hydrogen see Ref. [6] and [7]. Results obtained with the different NIST 64 databases and atomic potentials [8] are presented. This work was supported by the Hungarian Science Foundation of OTKA: T037709 and T038016. (author)

  1. Compton scatter and randoms corrections for origin ensembles 3D PET reconstructions

    Energy Technology Data Exchange (ETDEWEB)

    Sitek, Arkadiusz [Harvard Medical School, Boston, MA (United States). Dept. of Radiology; Brigham and Women' s Hospital, Boston, MA (United States); Kadrmas, Dan J. [Utah Univ., Salt Lake City, UT (United States). Utah Center for Advanced Imaging Research (UCAIR)

    2011-07-01

    In this work we develop a novel approach to correction for scatter and randoms in reconstruction of data acquired by 3D positron emission tomography (PET) applicable to tomographic reconstruction done by the origin ensemble (OE) approach. The statistical image reconstruction using OE is based on calculation of expectations of the numbers of emitted events per voxel based on complete-data space. Since the OE estimation is fundamentally different than regular statistical estimators such those based on the maximum likelihoods, the standard methods of implementation of scatter and randoms corrections cannot be used. Based on prompts, scatter, and random rates, each detected event is graded in terms of a probability of being a true event. These grades are utilized by the Markov Chain Monte Carlo (MCMC) algorithm used in OE approach for calculation of the expectation over the complete-data space of the number of emitted events per voxel (OE estimator). We show that the results obtained with the OE are almost identical to results obtained by the maximum likelihood-expectation maximization (ML-EM) algorithm for reconstruction for experimental phantom data acquired using Siemens Biograph mCT 3D PET/CT scanner. The developed correction removes artifacts due to scatter and randoms in investigated 3D PET datasets. (orig.)

  2. Exploring Genetic and Environmental Effects in Dysphonia: A Twin Study

    Science.gov (United States)

    Simberg, Susanna; Santtila, Pekka; Soveri, Anna; Varjonen, Markus; Sala, Eeva; Sandnabba, N. Kenneth

    2009-01-01

    Purpose: To explore the existence of genetic effects as well as the interaction between potential genetic effects and a voice-demanding occupation on dysphonia. Method: One thousand seven hundred and twenty-eight Finnish twins (555 male; 1,173 female) born between 1961 and 1989 completed a questionnaire concerning vocal symptoms and occupation.…

  3. Is a genome a codeword of an error-correcting code?

    Directory of Open Access Journals (Sweden)

    Luzinete C B Faria

    Full Text Available Since a genome is a discrete sequence, the elements of which belong to a set of four letters, the question as to whether or not there is an error-correcting code underlying DNA sequences is unavoidable. The most common approach to answering this question is to propose a methodology to verify the existence of such a code. However, none of the methodologies proposed so far, although quite clever, has achieved that goal. In a recent work, we showed that DNA sequences can be identified as codewords in a class of cyclic error-correcting codes known as Hamming codes. In this paper, we show that a complete intron-exon gene, and even a plasmid genome, can be identified as a Hamming code codeword as well. Although this does not constitute a definitive proof that there is an error-correcting code underlying DNA sequences, it is the first evidence in this direction.

  4. Biometrics encryption combining palmprint with two-layer error correction codes

    Science.gov (United States)

    Li, Hengjian; Qiu, Jian; Dong, Jiwen; Feng, Guang

    2017-07-01

    To bridge the gap between the fuzziness of biometrics and the exactitude of cryptography, based on combining palmprint with two-layer error correction codes, a novel biometrics encryption method is proposed. Firstly, the randomly generated original keys are encoded by convolutional and cyclic two-layer coding. The first layer uses a convolution code to correct burst errors. The second layer uses cyclic code to correct random errors. Then, the palmprint features are extracted from the palmprint images. Next, they are fused together by XORing operation. The information is stored in a smart card. Finally, the original keys extraction process is the information in the smart card XOR the user's palmprint features and then decoded with convolutional and cyclic two-layer code. The experimental results and security analysis show that it can recover the original keys completely. The proposed method is more secure than a single password factor, and has higher accuracy than a single biometric factor.

  5. Complete rupture of the distal semimembranosus tendon with secondary hamstring muscles atrophy: MR findings in two cases

    International Nuclear Information System (INIS)

    Varela, J.R.; Rodriguez, E.; Soler, R.; Gonzalez, J.; Pombo, S.

    2000-01-01

    Complete rupture of the hamstring muscles is a rare injury. The proximal musculo-tendinous junction is the most frequent site of rupture. We present two cases of complete rupture of the distal semimenbranosus tendon, which clinically presented as soft-tissue masses. MR imaging permitted the correct diagnosis. There has been only one other such case reported. (orig.)

  6. Complete rupture of the distal semimembranosus tendon with secondary hamstring muscles atrophy: MR findings in two cases

    Energy Technology Data Exchange (ETDEWEB)

    Varela, J.R.; Rodriguez, E.; Soler, R.; Gonzalez, J.; Pombo, S. [Dept. of Radiology, Hospital Juan Canalejo, La Coruna (Spain)

    2000-06-01

    Complete rupture of the hamstring muscles is a rare injury. The proximal musculo-tendinous junction is the most frequent site of rupture. We present two cases of complete rupture of the distal semimenbranosus tendon, which clinically presented as soft-tissue masses. MR imaging permitted the correct diagnosis. There has been only one other such case reported. (orig.)

  7. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing statistically-based genetics problems. This issue is at the emerging edge of modern college-level genetics instruction, and this study attempts to identify key theoretical components for creating a specialized biological statistics curriculum. The goal of this curriculum will be to prepare biology students with the skills for assimilating quantitatively-based genetic processes, increasingly at the forefront of modern genetics. To fulfill this, two college level classes at two universities were surveyed. One university was located in the northeastern US and the other in the West Indies. There was a sample size of 42 students and a supplementary interview was administered to a select 9 students. Interviews were also administered to professors in the field in order to gain insight into the teaching of statistics in genetics. Key findings indicated that students had very little to no background in statistics (55%). Although students did perform well on exams with 60% of the population receiving an A or B grade, 77% of them did not offer good explanations on a probability question associated with the normal distribution provided in the survey. The scope and presentation of the applicable statistics/mathematics in some of the most used textbooks in genetics teaching, as well as genetics syllabi used by instructors do not help the issue. It was found that the text books, often times, either did not give effective explanations for students, or completely left out certain topics. The omission of certain statistical/mathematical oriented topics was seen to be also true with the genetics syllabi reviewed for this study. Nonetheless

  8. Genetics of infectious diseases: hidden etiologies and common pathways.

    Science.gov (United States)

    Orlova, Marianna; Di Pietrantonio, Tania; Schurr, Erwin

    2011-09-01

    Since the completion of the human genome sequence, the study of common genetic polymorphisms in complex human diseases has become a main activity of human genetics. Employing genome-wide association studies, hundreds of modest genetic risk factors have been identified. In infectious diseases the identification of common risk factors has been varied and as in other common diseases it seems likely that important genetic risk factors remain to be discovered. Nevertheless, the identification of disease-specific genetic risk factors revealed an unexpected overlap in susceptibility genes of diverse inflammatory and infectious diseases. Analysis of the multi-disease susceptibility genes has allowed the definition of shared key pathways of inflammatory dysregulation and suggested unexpected infectious etiologies for other "non-infectious" common diseases.

  9. Corrective Action Decision Document/Closure Report for Corrective Action Unit 371: Johnnie Boy Crater and Pin Stripe Nevada Test Site, Nevada, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Patrick Matthews

    2010-07-01

    that consist of implementing a use restriction and posting warning signs at each site. These use restrictions were recorded in the FFACO database; the U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office (NNSA/NSO) Facility Information Management System; and the NNSA/NSO CAU/CAS files. Therefore, NNSA/NSO provides the following recommendations: • No further corrective actions are necessary for CAU 371. • A Notice of Completion to NNSA/NSO is requested from the Nevada Division of Environmental Protection for closure of CAU 371. • Corrective Action Unit 371 should be moved from Appendix III to Appendix IV of the FFACO.

  10. Electroweak one-loop corrections for e+e- annihilation into t anti t including hard bremsstrahlung

    International Nuclear Information System (INIS)

    Fleischer, J.; Leike, A.; Riemann, T.; Werthenbach, A.

    2003-01-01

    We present the complete electroweak one-loop corrections to top-pair production at a linear e + e - collider in the continuum region. Besides weak and photonic virtual corrections, real hard bremsstrahlung with simple realistic kinematical cuts is included. For the bremsstrahlung we advocate a semi-analytical approach with a high numerical accuracy. The virtual corrections are parameterized through six independent form factors, suitable for Monte Carlo implementation. Alternatively, our numerical package Topfit, a stand-alone code, can be utilized for the calculation of both differential and integrated cross sections as well as forward-backward asymmetries. (orig.)

  11. Challenges in reproducibility of genetic association studies: lessons learned from the obesity field.

    Science.gov (United States)

    Li, A; Meyre, D

    2013-04-01

    A robust replication of initial genetic association findings has proved to be difficult in human complex diseases and more specifically in the obesity field. An obvious cause of non-replication in genetic association studies is the initial report of a false positive result, which can be explained by a non-heritable phenotype, insufficient sample size, improper correction for multiple testing, population stratification, technical biases, insufficient quality control or inappropriate statistical analyses. Replication may, however, be challenging even when the original study describes a true positive association. The reasons include underpowered replication samples, gene × gene, gene × environment interactions, genetic and phenotypic heterogeneity and subjective interpretation of data. In this review, we address classic pitfalls in genetic association studies and provide guidelines for proper discovery and replication genetic association studies with a specific focus on obesity.

  12. Corrective response times in a coordinated eye-head-arm countermanding task.

    Science.gov (United States)

    Tao, Gordon; Khan, Aarlenne Z; Blohm, Gunnar

    2018-06-01

    Inhibition of motor responses has been described as a race between two competing decision processes of motor initiation and inhibition, which manifest as the reaction time (RT) and the stop signal reaction time (SSRT); in the case where motor initiation wins out over inhibition, an erroneous movement occurs that usually needs to be corrected, leading to corrective response times (CRTs). Here we used a combined eye-head-arm movement countermanding task to investigate the mechanisms governing multiple effector coordination and the timing of corrective responses. We found a high degree of correlation between effector response times for RT, SSRT, and CRT, suggesting that decision processes are strongly dependent across effectors. To gain further insight into the mechanisms underlying CRTs, we tested multiple models to describe the distribution of RTs, SSRTs, and CRTs. The best-ranked model (according to 3 information criteria) extends the LATER race model governing RTs and SSRTs, whereby a second motor initiation process triggers the corrective response (CRT) only after the inhibition process completes in an expedited fashion. Our model suggests that the neural processing underpinning a failed decision has a residual effect on subsequent actions. NEW & NOTEWORTHY Failure to inhibit erroneous movements typically results in corrective movements. For coordinated eye-head-hand movements we show that corrective movements are only initiated after the erroneous movement cancellation signal has reached a decision threshold in an accelerated fashion.

  13. Genetics Home Reference: autoimmune Addison disease

    Science.gov (United States)

    ... common in particular ethnic groups? Genetic Changes The cause of autoimmune Addison disease is complex and not completely understood. A combination ... is not caused by an autoimmune reaction. Other causes include infections that ... adrenal glands. Addison disease can also be one of several features of ...

  14. Molecular genetic contributions to socioeconomic status and intelligence.

    Science.gov (United States)

    Marioni, Riccardo E; Davies, Gail; Hayward, Caroline; Liewald, Dave; Kerr, Shona M; Campbell, Archie; Luciano, Michelle; Smith, Blair H; Padmanabhan, Sandosh; Hocking, Lynne J; Hastie, Nicholas D; Wright, Alan F; Porteous, David J; Visscher, Peter M; Deary, Ian J

    2014-05-01

    Education, socioeconomic status, and intelligence are commonly used as predictors of health outcomes, social environment, and mortality. Education and socioeconomic status are typically viewed as environmental variables although both correlate with intelligence, which has a substantial genetic basis. Using data from 6815 unrelated subjects from the Generation Scotland study, we examined the genetic contributions to these variables and their genetic correlations. Subjects underwent genome-wide testing for common single nucleotide polymorphisms (SNPs). DNA-derived heritability estimates and genetic correlations were calculated using the 'Genome-wide Complex Trait Analyses' (GCTA) procedures. 21% of the variation in education, 18% of the variation in socioeconomic status, and 29% of the variation in general cognitive ability was explained by variation in common SNPs (SEs ~ 5%). The SNP-based genetic correlations of education and socioeconomic status with general intelligence were 0.95 (SE 0.13) and 0.26 (0.16), respectively. There are genetic contributions to intelligence and education with near-complete overlap between common additive SNP effects on these traits (genetic correlation ~ 1). Genetic influences on socioeconomic status are also associated with the genetic foundations of intelligence. The results are also compatible with substantial environmental contributions to socioeconomic status.

  15. Corrective Jaw Surgery

    Medline Plus

    Full Text Available ... and Craniofacial Surgery Cleft Lip/Palate and Craniofacial Surgery A cleft lip may require one or more ... find out more. Corrective Jaw Surgery Corrective Jaw Surgery Orthognathic surgery is performed to correct the misalignment ...

  16. Genetic parameters, phenotypic, genotypic and environmental correlations and genetic variability on sunflower in the Brazilian Savannah

    Directory of Open Access Journals (Sweden)

    Ellen Grippi Lira

    Full Text Available ABSTRACT: Sunflower (Helianthus annuus L. is an annual crop that stands out for its production of high quality oil and for an efficient selection, being necessary to estimate the components of genetic and phenotypic variance. This study aimed to estimate genetic parameters, phenotypic, genotypic and environmental correlations and genetic variability on sunflower in the Brazilian Savannah, evaluating the characters grain yield (YIELD, days to start flowering (DFL based on flowering date in R5, chapter length (CL, weight of a thousand achenes (WTA, plant height (H and oil content (OilC of 16 sunflower genotypes. The experiment was conducted at Embrapa Cerrados, Planaltina, DF, situated at 15º 35’ 30”S latitude, 47º 42’ 30”W longitude and 1.007m above sea level, in soil classified as dystroferric Oxisol. The experimental design used was a complete randomized block with four replicates. The nature for the effects of genotypes and blocks was fixed. Except for the character chapter length, genetic variance was the main component of the phenotypic variance among the genotypes, indicating high genetic variability and experimental efficiency with proper environmental control. In absolute terms, the genetic correlations were superior to phenotypic and environmental. The high values reported for heritability and selective accuracy indicated efficiency of phenotypic selection. Results showed high genetic variability among genotypes, which may contribute to the genetic improvement of sunflower.

  17. Isolation and complete genome analysis of neurotropic dengue virus serotype 3 from the cerebrospinal fluid of an encephalitis patient.

    Directory of Open Access Journals (Sweden)

    Rama Dhenni

    2018-01-01

    Full Text Available Although neurological manifestations associated with dengue viruses (DENV infection have been reported, there is very limited information on the genetic characteristics of neurotropic DENV. Here we describe the isolation and complete genome analysis of DENV serotype 3 (DENV-3 from cerebrospinal fluid of an encephalitis paediatric patient in Jakarta, Indonesia. Next-generation sequencing was employed to deduce the complete genome of the neurotropic DENV-3 isolate. Based on complete genome analysis, two unique and nine uncommon amino acid changes in the protein coding region were observed in the virus. A phylogenetic tree and molecular clock analysis revealed that the neurotropic virus was a member of Sumatran-Javan clade of DENV-3 genotype I and shared a common ancestor with other isolates from Jakarta around 1998. This is the first report of neurotropic DENV-3 complete genome analysis, providing detailed information on the genetic characteristics of this virus.

  18. Population genetic structure and conservation genetics of threatened Okaloosa darters (Etheostoma okaloosae).

    Science.gov (United States)

    Austin, James D.; Jelks, Howard L.; Tate, Bill; Johnson, Aria R.; Jordan, Frank

    2011-01-01

    Imperiled Okaloosa darters (Etheostoma okaloosae) are small, benthic fish limited to six streams that flow into three bayous of Choctawhatchee Bay in northwest Florida, USA. We analyzed the complete mitochondrial cytochrome b gene and 10 nuclear microsatellite loci for 255 and 273 Okaloosa darters, respectively. Bayesian clustering analyses and AMOVA reflect congruent population genetic structure in both mitochondrial and microsatellite DNA. This structure reveals historical isolation of Okaloosa darter streams nested within bayous. Most of the six streams appear to have exchanged migrants though they remain genetically distinct. The U.S. Fish and Wildlife Service recently reclassified Okaloosa darters from endangered to threatened status. Our genetic data support the reclassification of Okaloosa darter Evolutionary Significant Units (ESUs) in the larger Tom's, Turkey, and Rocky creeks from endangered to threatened status. However, the three smaller drainages (Mill, Swift, and Turkey Bolton creeks) remain at risk due to their small population sizes and anthropogenic pressures on remaining habitat. Natural resource managers now have the evolutionary information to guide recovery actions within and among drainages throughout the range of the Okaloosa darter.

  19. 75 FR 36671 - Notice of Inventory Completion: Thomas Burke Memorial Washington State Museum, University of...

    Science.gov (United States)

    2010-06-28

    ... DEPARTMENT OF THE INTERIOR National Park Service Notice of Inventory Completion: Thomas Burke Memorial Washington State Museum, University of Washington, Seattle, WA; Correction AGENCY: National Park... human remains and associated funerary objects in the possession of the Thomas Burke Memorial Washington...

  20. Evaluation of a health-promoting school program to enhance correct medication use in Taiwan

    Directory of Open Access Journals (Sweden)

    Hsueh-Yun Chi

    2014-06-01

    Full Text Available This study was an evaluation of the Health Promoting School (HPS program in Taiwan and its effectiveness in enhancing students' knowledge and abilities with regard to correct medication usage. In 2011, baseline and follow-up self-administered online surveys were received from 3520 middle-school and primary students from intervention schools, and 3738 students from comparison primary and secondary schools completed the same survey. The results indicated that after implementing the correct medication use HPS program, students' knowledge and abilities concerning correct medication usage (i.e., the need to express clearly personal conditions to physicians, to check information on the medication packages, to take medication correctly and adhere to prescribed medication regimens, not to buy or acquire medication from unlicensed sources, and to consult pharmacists/physicians were significantly increased among the students in the intervention schools (p < 0.001. In addition, students' knowledge and abilities concerning correct medication usage were significantly higher in the intervention schools compared with the comparison schools (p < 0.001. In conclusion, the correct medication use HPS program significantly enhanced students' knowledge and abilities concerning correct medication usage.

  1. Completion Report for Well ER-EC-14, Corrective Action Units 101 and 102: Central and Western Pahute Mesa

    Energy Technology Data Exchange (ETDEWEB)

    None

    2013-03-05

    Well ER-EC-14 was drilled for the U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office in support of the Nevada Environmental Management Operations Underground Test Area (UGTA) Activity at the Nevada National Security Site (NNSS; formerly Nevada Test Site), Nye County, Nevada. The well was drilled in September and October 2012, as part of the Central and Western Pahute Mesa Corrective Action Unit Phase II drilling program. The primary purpose of the well was to provide detailed hydrogeologic information for the Fortymile Canyon composite hydrostratigraphic unit in the Timber Mountain moat area, within the Timber Mountain caldera complex, that will help address uncertainties within the Pahute Mesa–Oasis Valley hydrostratigraphic framework model. The main 55.9-centimeter (cm) hole was drilled to a total depth of 325.5 meters (m) and cased with 40.6-cm casing to 308.1 m. The hole diameter was then decreased to 37.5 cm, and drilling continued to a total depth of 724.8 m. The completion casing string, set to the depth of 690.9 m, consists of 16.8-cm stainless-steel casing hanging from 19.4-cm carbon-steel casing. The stainless-steel casing has two slotted intervals open to the Rainier Mesa Tuff. Two piezometer strings were installed in Well ER-EC-14. Both piezometer strings, each with one slotted interval, consist of 6.0-cm carbon-steel tubing at the surface, then cross over to 7.3-cm stainless-steel tubing just above the water table. The shallow piezometer string was landed at 507.8 m, and the deep piezometer string was landed at 688.6 m. Both piezometer strings are set to monitor groundwater within moderately to densely welded Rainier Mesa Tuff. Data collected during and shortly after hole construction include composite drill cuttings samples collected every 3.0 m, various geophysical logs, water quality (including tritium and other radionuclides) measurements, and water level measurements. The well penetrated 15.2 m of alluvium and

  2. Heritability, variance components and genetic advance of some ...

    African Journals Online (AJOL)

    Heritability, variance components and genetic advance of some yield and yield related traits in Ethiopian ... African Journal of Biotechnology ... randomized complete block design at Adet Agricultural Research Station in 2008 cropping season.

  3. Contractors Road Heavy Equipment Area SWMU 055 Corrective Measures Implementation Progress Report

    Science.gov (United States)

    Dorman, Lane

    2015-01-01

    This Corrective Measures Implementation (CMI) Progress Report, Revision 1, for Contractor's Road Heavy Equipment (CRHE) Area Solid Waste Management Unit (SWMU) Number 055 was prepared by Geosyntec Consultants (Geosyntec) for the National Aeronautics and Space Administration (NASA) under contract number NNK09CA02B, Delivery Order NNK09CA62D and Project Number PCN ENV-2324. This CMI Progress Report documents: (i) activities conducted as part of supplemental assessment activities completed from June 2009 through November 2014; (ii) Engineering Evaluation (EE) Advanced Data Packages (ADPs); and (iii) recommendations for future activities related to corrective measures at the Site.

  4. Environmental change, phenotypic plasticity, and genetic compensation.

    Science.gov (United States)

    Grether, Gregory F

    2005-10-01

    When a species encounters novel environmental conditions, some phenotypic characters may develop differently than in the ancestral environment. Most environmental perturbations of development are likely to reduce fitness, and thus selection would usually be expected to favor genetic changes that restore the ancestral phenotype. I propose the term "genetic compensation" to refer to this form of adaptive evolution. Genetic compensation is a subset of genetic accommodation and the reverse of genetic assimilation. When genetic compensation has occurred along a spatial environmental gradient, the mean trait values of populations in different environments may be more similar in the field than when representatives of the same populations are raised in a common environment (i.e., countergradient variation). If compensation is complete, genetic divergence between populations may be cryptic, that is, not detectable in the field. Here I apply the concept of genetic compensation to three examples involving carotenoid-based sexual coloration and then use these and other examples to discuss the concept in a broader context. I show that genetic compensation may lead to a cryptic form of reproductive isolation between populations evolving in different environments, may explain some puzzling cases in which heritable traits exposed to strong directional selection fail to show the expected evolutionary response, and may complicate efforts to monitor populations for signs of environmental deterioration.

  5. Automation of one-loop QCD corrections

    CERN Document Server

    Hirschi, Valentin; Frixione, Stefano; Garzelli, Maria Vittoria; Maltoni, Fabio; Pittau, Roberto

    2011-01-01

    We present the complete automation of the computation of one-loop QCD corrections, including UV renormalization, to an arbitrary scattering process in the Standard Model. This is achieved by embedding the OPP integrand reduction technique, as implemented in CutTools, into the MadGraph framework. By interfacing the tool so constructed, which we dub MadLoop, with MadFKS, the fully automatic computation of any infrared-safe observable at the next-to-leading order in QCD is attained. We demonstrate the flexibility and the reach of our method by calculating the production rates for a variety of processes at the 7 TeV LHC.

  6. Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines

    Directory of Open Access Journals (Sweden)

    Sampson Heidi M

    2013-01-01

    Full Text Available Abstract Background Many genetic diseases are due to defects in protein trafficking where the mutant protein is recognized by the quality control systems, retained in the endoplasmic reticulum (ER, and degraded by the proteasome. In many cases, the mutant protein retains function if it can be trafficked to its proper cellular location. We have identified structurally diverse correctors that restore the trafficking and function of the most common mutation causing cystic fibrosis, F508del-CFTR. Most of these correctors do not act directly as ligands of CFTR, but indirectly on other pathways to promote folding and correction. We hypothesize that these proteostasis regulators may also correct other protein trafficking diseases. Methods To test our hypothesis, we used stable cell lines or transient transfection to express 2 well-studied trafficking disease mutations in each of 3 different proteins: the arginine-vasopressin receptor 2 (AVPR2, also known as V2R, the human ether-a-go-go-related gene (KCNH2, also known as hERG, and finally the sulfonylurea receptor 1 (ABCC8, also known as SUR1. We treated cells expressing these mutant proteins with 9 structurally diverse F508del-CFTR correctors that function through different cellular mechanisms and assessed whether correction occurred via immunoblotting and functional assays. Results were deemed significantly different from controls by a one-way ANOVA (p  Results Here we show that F508del-CFTR correctors RDR1, KM60 and KM57 also correct some mutant alleles of other protein trafficking diseases. We also show that one corrector, the cardiac glycoside ouabain, was found to alter the glycosylation of all mutant alleles tested. Conclusions Correctors of F508del-CFTR trafficking might have broader applications to other protein trafficking diseases.

  7. Discovery of sexual dimorphisms in metabolic and genetic biomarkers.

    Directory of Open Access Journals (Sweden)

    Kirstin Mittelstrass

    2011-08-01

    Full Text Available Metabolomic profiling and the integration of whole-genome genetic association data has proven to be a powerful tool to comprehensively explore gene regulatory networks and to investigate the effects of genetic variation at the molecular level. Serum metabolite concentrations allow a direct readout of biological processes, and association of specific metabolomic signatures with complex diseases such as Alzheimer's disease and cardiovascular and metabolic disorders has been shown. There are well-known correlations between sex and the incidence, prevalence, age of onset, symptoms, and severity of a disease, as well as the reaction to drugs. However, most of the studies published so far did not consider the role of sexual dimorphism and did not analyse their data stratified by gender. This study investigated sex-specific differences of serum metabolite concentrations and their underlying genetic determination. For discovery and replication we used more than 3,300 independent individuals from KORA F3 and F4 with metabolite measurements of 131 metabolites, including amino acids, phosphatidylcholines, sphingomyelins, acylcarnitines, and C6-sugars. A linear regression approach revealed significant concentration differences between males and females for 102 out of 131 metabolites (p-values<3.8×10(-4; Bonferroni-corrected threshold. Sex-specific genome-wide association studies (GWAS showed genome-wide significant differences in beta-estimates for SNPs in the CPS1 locus (carbamoyl-phosphate synthase 1, significance level: p<3.8×10(-10; Bonferroni-corrected threshold for glycine. We showed that the metabolite profiles of males and females are significantly different and, furthermore, that specific genetic variants in metabolism-related genes depict sexual dimorphism. Our study provides new important insights into sex-specific differences of cell regulatory processes and underscores that studies should consider sex-specific effects in design and

  8. Corrective Action Decision Document for Corrective Action Unit 417: Central Nevada Test Area Surface, Nevada Appendix D - Corrective Action Investigation Report, Central Nevada Test Area, CAU 417

    International Nuclear Information System (INIS)

    1999-01-01

    This Corrective Action Decision Document (CADD) identifies and rationalizes the U.S. Department of Energy, Nevada Operations Office's selection of a recommended corrective action alternative (CAA) appropriate to facilitate the closure of Corrective Action Unit (CAU) 417: Central Nevada Test Area Surface, Nevada, under the Federal Facility Agreement and Consent Order. Located in Hot Creek Valley in Nye County, Nevada, and consisting of three separate land withdrawal areas (UC-1, UC-3, and UC-4), CAU 417 is comprised of 34 corrective action sites (CASs) including 2 underground storage tanks, 5 septic systems, 8 shaker pad/cuttings disposal areas, 1 decontamination facility pit, 1 burn area, 1 scrap/trash dump, 1 outlier area, 8 housekeeping sites, and 16 mud pits. Four field events were conducted between September 1996 and June 1998 to complete a corrective action investigation indicating that the only contaminant of concern was total petroleum hydrocarbon (TPH) which was found in 18 of the CASs. A total of 1,028 samples were analyzed. During this investigation, a statistical approach was used to determine which depth intervals or layers inside individual mud pits and shaker pad areas were above the State action levels for the TPH. Other related field sampling activities (i.e., expedited site characterization methods, surface geophysical surveys, direct-push geophysical surveys, direct-push soil sampling, and rotosonic drilling located septic leachfields) were conducted in this four-phase investigation; however, no further contaminants of concern (COCs) were identified. During and after the investigation activities, several of the sites which had surface debris but no COCs were cleaned up as housekeeping sites, two septic tanks were closed in place, and two underground storage tanks were removed. The focus of this CADD was to identify CAAs which would promote the prevention or mitigation of human exposure to surface and subsurface soils with contaminant

  9. Small-molecule Wnt agonists correct cleft palates in Pax9 mutant mice in utero.

    Science.gov (United States)

    Jia, Shihai; Zhou, Jing; Fanelli, Christopher; Wee, Yinshen; Bonds, John; Schneider, Pascal; Mues, Gabriele; D'Souza, Rena N

    2017-10-15

    Clefts of the palate and/or lip are among the most common human craniofacial malformations and involve multiple genetic and environmental factors. Defects can only be corrected surgically and require complex life-long treatments. Our studies utilized the well-characterized Pax9 -/- mouse model with a consistent cleft palate phenotype to test small-molecule Wnt agonist therapies. We show that the absence of Pax9 alters the expression of Wnt pathway genes including Dkk1 and Dkk2 , proven antagonists of Wnt signaling. The functional interactions between Pax9 and Dkk1 are shown by the genetic rescue of secondary palate clefts in Pax9 -/- Dkk1 f/+ ;Wnt1Cre embryos. The controlled intravenous delivery of small-molecule Wnt agonists (Dkk inhibitors) into pregnant Pax9 +/- mice restored Wnt signaling and led to the growth and fusion of palatal shelves, as marked by an increase in cell proliferation and osteogenesis in utero , while other organ defects were not corrected. This work underscores the importance of Pax9-dependent Wnt signaling in palatogenesis and suggests that this functional upstream molecular relationship can be exploited for the development of therapies for human cleft palates that arise from single-gene disorders. © 2017. Published by The Company of Biologists Ltd.

  10. Characterization of the complete mitochondrial genomes of Nematodirus oiratianus and Nematodirus spathiger of small ruminants.

    Science.gov (United States)

    Zhao, Guang-Hui; Jia, Yan-Qing; Cheng, Wen-Yu; Zhao, Wen; Bian, Qing-Qing; Liu, Guo-Hua

    2014-07-11

    Nematodirus spp. are among the most common nematodes of ruminants worldwide. N. oiratianus and N. spathiger are distributed worldwide as highly prevalent gastrointestinal nematodes, which cause emerging health problems and economic losses. Accurate identification of Nematodirus species is essential to develop effective control strategies for Nematodirus infection in ruminants. Mitochondrial DNA (mtDNA) could provide powerful genetic markers for identifying these closely related species and resolving phylogenetic relationships at different taxonomic levels. In the present study, the complete mitochondrial (mt) genomes of N. oiratianus and N. spathiger from small ruminants in China were obtained using Long-range PCR and sequencing. The complete mt genomes of N. oiratianus and N. spathiger were 13,765 bp and 13,519 bp in length, respectively. Both mt genomes were circular and consisted of 36 genes, including 12 genes encoding proteins, 2 genes encoding rRNA, and 22 genes encoding tRNA. Phylogenetic analyses based on the concatenated amino acid sequence data of all 12 protein-coding genes by Bayesian inference (BI), Maximum likelihood (ML) and Maximum parsimony (MP) showed that the two Nematodirus species (Molineidae) were closely related to Dictyocaulidae. The availability of the complete mtDNA sequences of N. oiratianus and N. spathiger not only provides new mtDNA sources for a better understanding of nematode mt genomics and phylogeny, but also provides novel and useful genetic markers for studying diagnosis, population genetics and molecular epidemiology of Nematodirus spp. in small ruminants.

  11. Final voluntary release assessment/corrective action report

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1996-11-12

    The US Department of Energy, Carlsbad Area Office (DOE-CAO) has completed a voluntary release assessment sampling program at selected Solid Waste Management Units (SWMUs) at the Waste Isolation Pilot Plant (WIPP). This Voluntary Release Assessment/Corrective Action (RA/CA) report has been prepared for final submittal to the Environmental protection Agency (EPA) Region 6, Hazardous Waste Management Division and the New Mexico Environment Department (NMED) Hazardous and Radioactive Materials Bureau to describe the results of voluntary release assessment sampling and proposed corrective actions at the SWMU sites. The Voluntary RA/CA Program is intended to be the first phase in implementing the Resource Conservation and Recovery Act (RCRA) Facility Investigation (RFI) and corrective action process at the WIPP. Data generated as part of this sampling program are intended to update the RCRA Facility Assessment (RFA) for the WIPP (Assessment of Solid Waste Management Units at the Waste Isolation Pilot Plant), NMED/DOE/AIP 94/1. This Final Voluntary RA/CA Report documents the results of release assessment sampling at 11 SWMUs identified in the RFA. With this submittal, DOE formally requests a No Further Action determination for these SWMUs. Additionally, this report provides information to support DOE`s request for No Further Action at the Brinderson and Construction landfill SWMUs, and to support DOE`s request for approval of proposed corrective actions at three other SWMUs (the Badger Unit Drill Pad, the Cotton Baby Drill Pad, and the DOE-1 Drill Pad). This information is provided to document the results of the Voluntary RA/CA activities submitted to the EPA and NMED in August 1995.

  12. Emerging genetic therapies to treat Duchenne muscular dystrophy

    Science.gov (United States)

    Nelson, Stanley F.; Crosbie, Rachelle H.; Miceli, M. Carrie; Spencer, Melissa J.

    2010-01-01

    Purpose of review Duchenne muscular dystrophy is a progressive muscle degenerative disease caused by dystrophin mutations. The purpose of this review is to highlight two emerging therapies designed to repair the primary genetic defect, called `exon skipping' and `nonsense codon suppression'. Recent findings A drug, PTC124, was identified that suppresses nonsense codon translation termination. PTC124 can lead to restoration of some dystrophin expression in human Duchenne muscular dystrophy muscles with mutations resulting in premature stops. Two drugs developed for exon skipping, PRO051 and AVI-4658, result in the exclusion of exon 51 from mature mRNA. They can restore the translational reading frame to dystrophin transcripts from patients with a particular subset of dystrophin gene deletions and lead to some restoration of dystrophin expression in affected boys' muscle in vivo. Both approaches have concluded phase I trials with no serious adverse events. Summary These novel therapies that act to correct the primary genetic defect of dystrophin deficiency are among the first generation of therapies tailored to correct specific mutations in humans. Thus, they represent paradigm forming approaches to personalized medicine with the potential to lead to life changing treatment for those affected by Duchenne muscular dystrophy. PMID:19745732

  13. [Prenatal genetic counseling and instruction for deaf families by genetic test].

    Science.gov (United States)

    Han, Ming-yu; Huang, Sha-sha; Wang, Guo-jian; Yuan, Yong-yi; Kang, Dong-yang; Zhang, Xin; Dai, Pu

    2011-11-01

    Analyzed the molecular pathogenesis of probands by means of genetic test and assisted the local Family Planning Institute by providing prenatal genetic counseling and instruction for deaf families who eager to have more baby. Total of forty-three deaf families were recruited by two institutes for family planning from Guangzhou and Weifang. Forty-two families had one deaf child with normal hearing parents. One family was that parents and their child were all deaf. Genetic testing of GJB2, SLC26A4 and mitochondrial DNA (mtDNA) 12SrRNA were firstly performed in probands and their parents, following medical history, physical examination, auditory test and CT scan of temporal bone were completed. And then the genetic information and instruction were provided to each deaf family. Fifteen of these 43 families had positive results of genetic test. In fifteen families, one family was confirmed that the parents and their child all carried homozygous GJB2 mutations and the recurrence risk was 100%. Twelve families were confirmed that the probands carried homozygous/compound GJB2 or SLC26A4 mutations while their parents were GJB2 or SLC26A4 carriers, and the recurrence risk was 25%. One family was confirmed that the proband, diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan, carried heterozygous SLC26A4 mutation from the mother, and the recurrence risk was still 25% based on the hereditary pattern of EVAS although another SLC26A4 mutation from the father was not found. One family was confirmed that the proband carried a heterozygous GJB2 mutation from the mother and the possibility to be GJB2 carrier for offsprings was 50%. The rest 28 families were that all probands and their parents did not carry GJB2, SLC26A4 and mtDNA 12SrRNA pathological mutation. Genetic testing can provide more accurate and useful prenatal genetic counseling and instruction to deaf families. Meanwhile, it is an ideal way to develop a cooperative relationship with the institute for

  14. Role of bone marrow transplantation for correcting hemophilia A in mice

    Science.gov (United States)

    Follenzi, Antonia; Raut, Sanj; Merlin, Simone; Sarkar, Rita

    2012-01-01

    To better understand cellular basis of hemophilia, cell types capable of producing FVIII need to be identified. We determined whether bone marrow (BM)–derived cells would produce cells capable of synthesizing and releasing FVIII by transplanting healthy mouse BM into hemophilia A mice. To track donor-derived cells, we used genetic reporters. Use of multiple coagulation assays demonstrated whether FVIII produced by discrete cell populations would correct hemophilia A. We found that animals receiving healthy BM cells survived bleeding challenge with correction of hemophilia, although donor BM-derived hepatocytes or endothelial cells were extremely rare, and these cells did not account for therapeutic benefits. By contrast, donor BM-derived mononuclear and mesenchymal stromal cells were more abundant and expressed FVIII mRNA as well as FVIII protein. Moreover, injection of healthy mouse Kupffer cells (liver macrophage/mononuclear cells), which predominantly originate from BM, or of healthy BM-derived mesenchymal stromal cells, protected hemophilia A mice from bleeding challenge with appearance of FVIII in blood. Therefore, BM transplantation corrected hemophilia A through donor-derived mononuclear cells and mesenchymal stromal cells. These insights into FVIII synthesis and production in alternative cell types will advance studies of pathophysiological mechanisms and therapeutic development in hemophilia A. PMID:22368271

  15. What do men understand about lifetime risk following genetic testing? The effect of context and numeracy.

    Science.gov (United States)

    Rolison, Jonathan J; Hanoch, Yaniv; Miron-Shatz, Talya

    2012-07-01

    Genetic testing for gene mutations associated with specific cancers provides an opportunity for early detection, surveillance, and intervention (Smith, Cokkinides, & Brawley, 2008). Lifetime risk estimates provided by genetic testing refer to the risk of developing a specific disease within one's lifetime, and evidence suggests that this is important for the medical choices people make, as well as their future family and financial plans. The present studies tested whether adult men understand the lifetime risks of prostate cancer informed by genetic testing. In 2 experiments, adult men were asked to interpret the lifetime risk information provided in statements about risks of prostate cancer. Statement format was manipulated such that the most appropriate interpretation of risk statements referred to an absolute risk of cancer in experiment 1 and a relative risk in experiment 2. Experiment 1 revealed that few men correctly interpreted the lifetime risks of cancer when these refer to an absolute risk of cancer, and numeracy levels positively predicted correct responding. The proportion of correct responses was greatly improved in experiment 2 when the most appropriate interpretation of risk statements referred instead to a relative rather than an absolute risk, and numeracy levels were less involved. Understanding of lifetime risk information is often poor because individuals incorrectly believe that these refer to relative rather than absolute risks of cancer.

  16. The genetics of speciation by reinforcement.

    Directory of Open Access Journals (Sweden)

    Daniel Ortiz-Barrientos

    2004-12-01

    Full Text Available Reinforcement occurs when natural selection strengthens behavioral discrimination to prevent costly interspecies matings, such as when matings produce sterile hybrids. This evolutionary process can complete speciation, thereby providing a direct link between Darwin's theory of natural selection and the origin of new species. Here, by examining a case of speciation by reinforcement in Drosophila,we present the first high-resolution genetic study of variation within species for female mating discrimination that is enhanced by natural selection. We show that reinforced mating discrimination is inherited as a dominant trait, exhibits variability within species, and may be influenced by a known set of candidate genes involved in olfaction. Our results show that the genetics of reinforced mating discrimination is different from the genetics of mating discrimination between species, suggesting that overall mating discrimination might be a composite phenomenon, which in Drosophila could involve both auditory and olfactory cues. Examining the genetics of reinforcement provides a unique opportunity for both understanding the origin of new species in the face of gene flow and identifying the genetic basis of adaptive female species preferences, two major gaps in our understanding of speciation.

  17. An Improved Hierarchical Genetic Algorithm for Sheet Cutting Scheduling with Process Constraints

    OpenAIRE

    Yunqing Rao; Dezhong Qi; Jinling Li

    2013-01-01

    For the first time, an improved hierarchical genetic algorithm for sheet cutting problem which involves n cutting patterns for m non-identical parallel machines with process constraints has been proposed in the integrated cutting stock model. The objective of the cutting scheduling problem is minimizing the weighted completed time. A mathematical model for this problem is presented, an improved hierarchical genetic algorithm (ant colony—hierarchical genetic algorithm) is developed for better ...

  18. Inferring influenza global transmission networks without complete phylogenetic information.

    Science.gov (United States)

    Aris-Brosou, Stéphane

    2014-03-01

    Influenza is one of the most severe respiratory infections affecting humans throughout the world, yet the dynamics of its global transmission network are still contentious. Here, I describe a novel combination of phylogenetics, time series, and graph theory to analyze 14.25 years of data stratified in space and in time, focusing on the main target of the human immune response, the hemagglutinin gene. While bypassing the complete phylogenetic inference of huge data sets, the method still extracts information suggesting that waves of genetic or of nucleotide diversity circulate continuously around the globe for subtypes that undergo sustained transmission over several seasons, such as H3N2 and pandemic H1N1/09, while diversity of prepandemic H1N1 viruses had until 2009 a noncontinuous transmission pattern consistent with a source/sink model. Irrespective of the shift in the structure of H1N1 diversity circulation with the emergence of the pandemic H1N1/09 strain, US prevalence peaks during the winter months when genetic diversity is at its lowest. This suggests that a dominant strain is generally responsible for epidemics and that monitoring genetic and/or nucleotide diversity in real time could provide public health agencies with an indirect estimate of prevalence.

  19. Use of Contemporary Genetics in Cardiovascular Diagnosis

    Science.gov (United States)

    George, Alfred L.

    2015-01-01

    An explosion of knowledge regarding the genetic and genomic basis for rare and common diseases has provided a framework for revolutionizing the practice of medicine. Achieving the reality of a genomic medicine era requires that basic discoveries are effectively translated into clinical practice through implementation of genetic and genomic testing. Clinical genetic tests have become routine for many inherited disorders and can be regarded as the standard-of-care in many circumstances including disorders affecting the cardiovascular system. New, high-throughput methods for determining the DNA sequence of all coding exons or complete genomes are being adopted for clinical use to expand the speed and breadth of genetic testing. Along with these extraordinary advances have emerged new challenges to practicing physicians for understanding when and how to use genetic testing along with how to appropriately interpret test results. This review will acquaint readers with general principles of genetic testing including newer technologies, test interpretation and pitfalls. The focus will be on testing genes responsible for monogenic disorders and on other emerging applications such as pharmacogenomic profiling. The discussion will be extended to the new paradigm of direct-to-consumer genetic testing and the value of assessing genomic risk for common diseases. PMID:25421045

  20. Scalable effective-temperature reduction for quantum annealers via nested quantum annealing correction

    Science.gov (United States)

    Vinci, Walter; Lidar, Daniel A.

    2018-02-01

    Nested quantum annealing correction (NQAC) is an error-correcting scheme for quantum annealing that allows for the encoding of a logical qubit into an arbitrarily large number of physical qubits. The encoding replaces each logical qubit by a complete graph of degree C . The nesting level C represents the distance of the error-correcting code and controls the amount of protection against thermal and control errors. Theoretical mean-field analyses and empirical data obtained with a D-Wave Two quantum annealer (supporting up to 512 qubits) showed that NQAC has the potential to achieve a scalable effective-temperature reduction, Teff˜C-η , with 0 temperature of a quantum annealer. Such effective-temperature reduction is relevant for machine-learning applications. Since we demonstrate that NQAC achieves error correction via a reduction of the effective-temperature of the quantum annealing device, our results address the problem of the "temperature scaling law for quantum annealers," which requires the temperature of quantum annealers to be reduced as problems of larger sizes are attempted to be solved.

  1. 77 FR 65404 - Notice of Inventory Completion: Maxwell Museum of Anthropology, University of New Mexico...

    Science.gov (United States)

    2012-10-26

    ... Inventory Completion: Maxwell Museum of Anthropology, University of New Mexico, Albuquerque, NM; Correction... affiliated with the human remains may contact the Maxwell Museum of Anthropology. Repatriation of the human..., Maxwell Museum of Anthropology, MSC01 1050, University of New Mexico, Albuquerque, NM 87131-0001...

  2. The complete mitochondrial genome of the facultative entomopathogenic nematode Oscheius chongmingensis (Rhabditida: Rhabditidae)

    Czech Academy of Sciences Publication Activity Database

    Jarošová, Andrea; Půža, Vladimír; Žurovcová, Martina

    2016-01-01

    Roč. 27, č. 5 (2016), s. 3109-3110 ISSN 1940-1736 R&D Projects: GA ČR GAP504/12/2352 Grant - others:GA JU(CZ) 137/2010/P Institutional support: RVO:60077344 Keywords : complete mitogenome * Oscheius chongmingensis * Rhabditoidea Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.350, year: 2016

  3. Completion Report for Well ER-20-12: Corrective Action Units 101 and 102: Central and Western Pahute Mesa

    Energy Technology Data Exchange (ETDEWEB)

    Wurtz, Jeff [Navarro-Intera, LLC (N-I), Las Vegas, NV (United States)

    2016-08-01

    Well ER-20-12 was drilled for the U.S. Department of Energy, Nevada National Security Administration Nevada Field Office in support of the Underground Test Area Activity. The well was drilled from October 2015 to January 2016 as an addition to the Central and Western Pahute Mesa corrective action units 101 and 102 the Phase II drilling program. Well ER-20-12 was identified based on recommendations of the Pahute Mesa Guidance Team as a result of anomalous tritium detections in groundwater samples collected from Well PM-3 in 2011 and 2013. The primary purpose of the well was to provide information on the hydrogeology in the area downgradient of select underground tests on Western Pahute Mesa and define hydraulic properties in the saturated Tertiary volcanic rocks. The main 46.99-centimeter (cm) (18.5-inch [in.]) borehole was drilled to a depth of 765.14 meters (m) (2,510.3 ft) and the hole opened to 66.04 cm (26 in.); followed by the 50.80-cm (20-in.) surface casing, which was installed and sealed with cement; and a piezometer (p4) was set in the Timber Mountain welded-tuff aquifer (TMWTA) between the casing and the open borehole. The borehole was continued with a 46.99-cm (18.5-in.) drill bit to a depth of 1,326.53 m (4,352.16 ft), and an intermediate 24.44-cm (9.625-in.) casing was installed and sealed to 1,188.72 m (3,900.00 ft) A piezometer (p3) was installed across the Calico Hills zeolitic composite unit (CHZCM) (lava-flow aquifer [LFA]) in the annulus of the open borehole. Two additional piezometers were installed and completed between the intermediate casing and the borehole wall, one (p2) in the CHZCM and one (p1) in the Belted Range aquifer (BRA). The piezometers are set to monitor groundwater properties in the completed intervals. The borehole was continued with a 21.59-cm (8.5-in.) drill bit to a total depth of 1,384.80 m (4,543.33 ft), and the main completion 13.97-cm (5.5-in.) casing was installed in the open borehole across the Pre-Belted Range

  4. Completion Report for Well ER-20-12: Corrective Action Units 101 and 102: Central and Western Pahute Mesa

    International Nuclear Information System (INIS)

    Wurtz, Jeff

    2016-01-01

    Well ER-20-12 was drilled for the U.S. Department of Energy, Nevada National Security Administration Nevada Field Office in support of the Underground Test Area Activity. The well was drilled from October 2015 to January 2016 as an addition to the Central and Western Pahute Mesa corrective action units 101 and 102 the Phase II drilling program. Well ER-20-12 was identified based on recommendations of the Pahute Mesa Guidance Team as a result of anomalous tritium detections in groundwater samples collected from Well PM-3 in 2011 and 2013. The primary purpose of the well was to provide information on the hydrogeology in the area downgradient of select underground tests on Western Pahute Mesa and define hydraulic properties in the saturated Tertiary volcanic rocks. The main 46.99-centimeter (cm) (18.5-inch) borehole was drilled to a depth of 765.14 meters (m) (2,510.3 ft) and the hole opened to 66.04 cm (26 in.); followed by the 50.80-cm (20-in.) surface casing, which was installed and sealed with cement; and a piezometer (p4) was set in the Timber Mountain welded-tuff aquifer (TMWTA) between the casing and the open borehole. The borehole was continued with a 46.99-cm (18.5-in.) drill bit to a depth of 1,326.53 m (4,352.16 ft), and an intermediate 24.44-cm (9.625-in.) casing was installed and sealed to 1,188.72 m (3,900.00 ft) A piezometer (p3) was installed across the Calico Hills zeolitic composite unit (CHZCM) (lava-flow aquifer [LFA]) in the annulus of the open borehole. Two additional piezometers were installed and completed between the intermediate casing and the borehole wall, one (p2) in the CHZCM and one (p1) in the Belted Range aquifer (BRA). The piezometers are set to monitor groundwater properties in the completed intervals. The borehole was continued with a 21.59-cm (8.5-in.) drill bit to a total depth of 1,384.80 m (4,543.33 ft), and the main completion 13.97-cm (5.5-in.) casing was installed in the open borehole across the Pre-Belted Range composite

  5. Learners’ preferences towards Corrective feedback in writing assignments in tertiary education

    Directory of Open Access Journals (Sweden)

    Horbacauskiene Jolita

    2015-12-01

    Full Text Available For several decades, there has been a heated debate about the value of providing corrective feedback in writing assignments in English as a foreign language (EFL classes. Despite the fact that corrective feedback in writing has been analysed from various angles, learners’ expectations regarding feedback given by language instructors are still to be considered, especially in different learning settings. Student attitudes have been found to be associated with motivation, proficiency, learner anxiety, autonomous learning, etc. (Elwood & Bode, 2014. Thus, the aim of this paper was to compare EFL learners’ attitudes towards corrective feedback and self-evaluation of writing skills in different learning settings. Students at two technological universities in France and Lithuania were surveyed and asked to complete an anonymous questionnaire combining the Likert scale and rank order questions. The results indicate that frequency of writing assignments seems to have little or no impact on students’ self-evaluation of writing skills. Moreover, although the two groups of students showed preference for feedback on different error types (e.g., feedback on structure vs. feedback on grammar, nevertheless, indirect corrective feedback with a clue was favoured by all the respondents.

  6. Three-loop corrections to the soft anomalous dimension in multileg scattering

    CERN Document Server

    Almelid, Øyvind; Gardi, Einan

    2016-01-01

    We present the three-loop result for the soft anomalous dimension governing long-distance singularities of multi-leg gauge-theory scattering amplitudes of massless partons. We compute all contributing webs involving semi-infinite Wilson lines at three loops and obtain the complete three-loop correction to the dipole formula. We find that non-dipole corrections appear already for three coloured partons, where the correction is a constant without kinematic dependence. Kinematic dependence appears only through conformally-invariant cross ratios for four coloured partons or more, and the result can be expressed in terms of single-valued harmonic polylogarithms of weight five. While the non-dipole three-loop term does not vanish in two-particle collinear limits, its contribution to the splitting amplitude anomalous dimension reduces to a constant, and it only depends on the colour charges of the collinear pair, thereby preserving strict collinear factorization properties. Finally we verify that our result is consi...

  7. Exploration of genetic architecture through sib-ship reconstruction in advanced breeding population of Eucalyptus nitens.

    Directory of Open Access Journals (Sweden)

    Jaroslav Klápště

    Full Text Available Accurate inference of relatedness between individuals in breeding population contributes to the precision of genetic parameter estimates, effectiveness of inbreeding management and the amount of genetic progress delivered from breeding programs. Pedigree reconstruction has been proven to be an efficient tool to correct pedigree errors and recover hidden relatedness in open pollinated progeny tests but the method can be limited by the lack of parental genotypes and the high proportion of alien pollen from outside the breeding population. Our study investigates the efficiency of sib-ship reconstruction in an advanced breeding population of Eucalyptus nitens with only partially tracked pedigree. The sib-ship reconstruction allowed the identification of selfs (4% of the sample and the exploration of their potential effect on inbreeding depression in the traits studied. We detected signs of inbreeding depression in diameter at breast height and growth strain while no indications were observed in wood density, wood stiffness and tangential air-dry shrinkage. After the application of a corrected sib-ship relationship matrix, additive genetic variance and heritability were observed to increase where signs of inbreeding depression were initially detected. Conversely, the same genetic parameters for traits that appeared to be free of inbreeding depression decreased in size. It therefore appeared that greater genetic variance may be due, at least in part, to contributions from inbreeding in these studied populations rather than a removal of inbreeding as is traditionally thought.

  8. Development of Static Balance Measurement and Correction Compound Platform for Single Blade of Controllable Pitch Propeller

    Science.gov (United States)

    Chao, Zhang; Shijie, Su; Yilin, Yang; Guofu, Wang; Chao, Wang

    2017-11-01

    Aiming at the static balance of the controllable pitch propeller (CPP), a high efficiency static balance method based on the double-layer structure of the measuring table and gantry robot is adopted to realize the integration of torque measurement and corrected polish for controllable pitch propeller blade. The control system was developed by Microsoft Visual Studio 2015, and a composite platform prototype was developed. Through this prototype, conduct an experiment on the complete process of torque measurement and corrected polish based on a 300kg class controllable pitch propeller blade. The results show that the composite platform can correct the static balance of blade with a correct, efficient and labor-saving operation, and can replace the traditional method on static balance of the blade.

  9. Cutaneous drug hypersensitivity : Immunological and genetic perspective

    Directory of Open Access Journals (Sweden)

    Kisalay Ghosh

    2011-01-01

    Full Text Available Drug hypersensitivity is an unpredictable, immunologically mediated adverse reaction, clustered in a genetically predisposed individual. The role of "hapten concept" in immune sensitization has recently been contested by the "pharmacological interaction" hypothesis. After completion of the "human genome project" and with the availability of high-resolution genotyping, genetic susceptibility to hypersensitivity for certain drugs has been proved beyond doubt though the trend is ethnicity and phenotype dependent. Application of this newly acquired knowledge may reduce or abolish the morbidity and mortality associated with cutaneous drug hypersensitivity.

  10. Needed improvements in the development of systemic corrective actions.

    Energy Technology Data Exchange (ETDEWEB)

    Campisi, John A.

    2009-07-01

    There are indications that corrective actions, as implemented at Sandia National Laboratories are not fully adequate. Review of independent audits spanning multiple years provides evidence of recurring issues within the same or similar operations and programs. Several external audits have directly called into question the ability Sandia's assessment and evaluation processes to prevent recurrence. Examples of repeated findings include lockout/tagout programs, local exhaust ventilation controls and radiological controls. Recurrence clearly shows that there are underlying systemic factors that are not being adequately addressed by corrective actions stemming from causal analyses. Information suggests that improvements in the conduct of causal analyses and, more importantly, in the development of subsequent corrective actions are warranted. Current methodolgies include Management Oversight Risk Tree, developed in the early 1970s and Systemic Factors Analysis. Recommendations for improvements include review of other causal analysis systems, training, improved formality of operations, improved documentation, and a corporate method that uses truly systemic solutions. This report was written some years ago and is being published now to form the foundation for current, follow-on reports being developed. Some outdated material is recognized but is retained for report completeness.

  11. Genetics of Dyslipidemia and Ischemic Heart Disease.

    Science.gov (United States)

    Sharma, Kavita; Baliga, Ragavendra R

    2017-05-01

    Genetic dyslipidemias contribute to the prevalence of ischemic heart disease. The field of genetic dyslipidemias and their influence on atherosclerotic heart disease is rapidly developing and accumulating increasing evidence. The purpose of this review is to describe the current state of knowledge in regard to inherited atherogenic dyslipidemias. The disorders of familial hypercholesterolemia (FH) and elevated lipoprotein(a) will be detailed. Genetic technology has made rapid advancements, leading to new discoveries in inherited atherogenic dyslipidemias, which will be explored in this review, as well as a description of possible future developments. Increasing attention has come upon the genetic disorders of familial hypercholesterolemia and elevated lipoprotein(a). This review includes new knowledge of these disorders including description of these disorders, their method of diagnosis, their prevalence, their genetic underpinnings, and their effect on the development of cardiovascular disease. In addition, it discusses major advances in genetic technology, including the completion of the human genome sequence, next-generation sequencing, and genome-wide association studies. Also discussed are rare variant studies with specific genetic mechanisms involved in inherited dyslipidemias, such as in the proprotein convertase subtilisin/kexin type 9 (PCSK9) enzyme. The field of genetics of dyslipidemia and cardiovascular disease is rapidly growing, which will result in a bright future of novel mechanisms of action and new therapeutics.

  12. Predicting mining activity with parallel genetic algorithms

    Science.gov (United States)

    Talaie, S.; Leigh, R.; Louis, S.J.; Raines, G.L.; Beyer, H.G.; O'Reilly, U.M.; Banzhaf, Arnold D.; Blum, W.; Bonabeau, C.; Cantu-Paz, E.W.; ,; ,

    2005-01-01

    We explore several different techniques in our quest to improve the overall model performance of a genetic algorithm calibrated probabilistic cellular automata. We use the Kappa statistic to measure correlation between ground truth data and data predicted by the model. Within the genetic algorithm, we introduce a new evaluation function sensitive to spatial correctness and we explore the idea of evolving different rule parameters for different subregions of the land. We reduce the time required to run a simulation from 6 hours to 10 minutes by parallelizing the code and employing a 10-node cluster. Our empirical results suggest that using the spatially sensitive evaluation function does indeed improve the performance of the model and our preliminary results also show that evolving different rule parameters for different regions tends to improve overall model performance. Copyright 2005 ACM.

  13. Correction of Misclassifications Using a Proximity-Based Estimation Method

    Directory of Open Access Journals (Sweden)

    Shmulevich Ilya

    2004-01-01

    Full Text Available An estimation method for correcting misclassifications in signal and image processing is presented. The method is based on the use of context-based (temporal or spatial information in a sliding-window fashion. The classes can be purely nominal, that is, an ordering of the classes is not required. The method employs nonlinear operations based on class proximities defined by a proximity matrix. Two case studies are presented. In the first, the proposed method is applied to one-dimensional signals for processing data that are obtained by a musical key-finding algorithm. In the second, the estimation method is applied to two-dimensional signals for correction of misclassifications in images. In the first case study, the proximity matrix employed by the estimation method follows directly from music perception studies, whereas in the second case study, the optimal proximity matrix is obtained with genetic algorithms as the learning rule in a training-based optimization framework. Simulation results are presented in both case studies and the degree of improvement in classification accuracy that is obtained by the proposed method is assessed statistically using Kappa analysis.

  14. Closure Report for Corrective Action Unit 553: Areas 19, 20 Mud Pits and Cellars, Nevada Test Site, Nevada, Revision 0

    International Nuclear Information System (INIS)

    Al Wickline

    2007-01-01

    This Closure Report (CR) presents information supporting the closure of Corrective Action Unit (CAU) 553: Areas 19, 20 Mud Pits and Cellars, Nevada Test Site, Nevada. This CR complies with the requirements of the Federal Facility Agreement and Consent Order that was agreed to by the State of Nevada; U.S. Department of Energy (DOE), Environmental Management; U.S. Department of Defense; and DOE, Legacy Management. The corrective action sites (CASs) within CAU 553 are located within Areas 19 and 20 of the Nevada Test Site. Corrective Action Unit 553 is comprised of the following CASs: 19-99-01, Mud Spill 19-99-11, Mud Spill 20-09-09, Mud Spill 20-99-03, Mud Spill. The purpose of this CR is to provide documentation supporting the completed corrective actions and provide data confirming that the closure objectives for CASs within CAU 553 were met. To achieve this, the following actions were or will be performed: Review the current site conditions including the concentration and extent of contamination. Implement any corrective actions necessary to protect human health and the environment. Properly dispose of corrective action and investigation wastes. Document the Notice of Completion and closure of CAU 553 to be issued by Nevada Division of Environmental Protection

  15. Getting complete genomes from complex samples using nanopore sequencing

    DEFF Research Database (Denmark)

    Kirkegaard, Rasmus Hansen; Karst, Søren Michael; Albertsen, Mads

    Short read sequencing and metagenomic binning workflows have made it possible to extract bacterial genome bins from environmental microbial samples containing hundreds to thousands of different species. However, these genome bins often do not represent complete genomes, as they are mostly...... fragmented, incomplete and often contaminated with foreign DNA and with no robust strategies to validate the quality. The value of these `draft genomes` have limited, lasting value to the scientific community, as gene synteny is broken and the uncertainty of what is missing. The genetic material most often...... missed is important multi-copy and/or conserved marker genes such as the 16S rRNA gene, as sequence micro-heterogeneity prevents assembly of these genes in the de novo assembly. We demonstrate that using nanopore long reads it is now possible to overcome these issues and make complete genomes from...

  16. How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study.

    Science.gov (United States)

    Ostergren, Jenny E; Gornick, Michele C; Carere, Deanna Alexis; Kalia, Sarah S; Uhlmann, Wendy R; Ruffin, Mack T; Mountain, Joanna L; Green, Robert C; Roberts, J Scott

    2015-01-01

    To assess customer comprehension of health-related personal genomic testing (PGT) results. We presented sample reports of genetic results and examined responses to comprehension questions in 1,030 PGT customers (mean age: 46.7 years; 59.9% female; 79.0% college graduates; 14.9% non-White; 4.7% of Hispanic/Latino ethnicity). Sample reports presented a genetic risk for Alzheimer's disease and type 2 diabetes, carrier screening summary results for >30 conditions, results for phenylketonuria and cystic fibrosis, and drug response results for a statin drug. Logistic regression was used to identify correlates of participant comprehension. Participants exhibited high overall comprehension (mean score: 79.1% correct). The highest comprehension (range: 81.1-97.4% correct) was observed in the statin drug response and carrier screening summary results, and lower comprehension (range: 63.6-74.8% correct) on specific carrier screening results. Higher levels of numeracy, genetic knowledge, and education were significantly associated with greater comprehension. Older age (≥ 60 years) was associated with lower comprehension scores. Most customers accurately interpreted the health implications of PGT results; however, comprehension varied by demographic characteristics, numeracy and genetic knowledge, and types and format of the genetic information presented. Results suggest a need to tailor the presentation of PGT results by test type and customer characteristics. © 2015 S. Karger AG, Basel.

  17. The Significance of Content Knowledge for Informal Reasoning regarding Socioscientific Issues: Applying Genetics Knowledge to Genetic Engineering Issues

    Science.gov (United States)

    Sadler, Troy D.; Zeidler, Dana L.

    2005-01-01

    This study focused on informal reasoning regarding socioscientific issues. It sought to explore how content knowledge influenced the negotiation and resolution of contentious and complex scenarios based on genetic engineering. Two hundred and sixty-nine students drawn from undergraduate natural science and nonnatural science courses completed a…

  18. Rapid Genetic Analysis in Congenital Hyperinsulinism

    DEFF Research Database (Denmark)

    Christesen, Henrik Thybo; Brusgaard, Klaus; Alm, Jan

    2007-01-01

    BACKGROUND: In severe, medically unresponsive congenital hyperinsulinism (CHI), the histological differentiation of focal versus diffuse disease is vital, since the surgical management is completely different. Genetic analysis may help in the differential diagnosis, as focal CHI is associated...... with a paternal germline ABCC8 or KCNJ11 mutation and a focal loss of maternal chromosome 11p15, whereas a maternal mutation, or homozygous/compound heterozygous ABCC8 and KCNJ11 mutations predict diffuse-type disease. However, genotyping usually takes too long to be helpful in the absence of a founder mutation....... METHODS: In 4 patients, a rapid genetic analysis of the ABBC8 and KCNJ11 genes was performed within 2 weeks on request prior to the decision of pancreatic surgery. RESULTS: Two patients had no mutations, rendering the genetic analysis non-informative. Peroperative multiple biopsies showed diffuse disease...

  19. Complete Genome Sequence of Porcine Parvovirus N Strain Isolated from Guangxi, China

    OpenAIRE

    Su, Qian-Lian; Li, Bin; Zhao, Wu; Liang, Jia-Xing; He, Ying; Qin, Yi-Bin; Lu, Bing-Xia

    2015-01-01

    We report here the complete genomic sequence of the porcine parvovirus (PPV) N strain, isolated in 1989 from the viscera of a stillborn fetus farrowed by a gilt in Guangxi, southern China. Phylogenetic analyses suggest that the PPV-N strain is closely related to attenuated PPV NADL-2 strains. The PPV-N strain has good immunogenicity, genetic stability, and safety.

  20. Virtual hadronic and heavy-fermion O({alpha}{sup 2}) corrections to Bhabha scattering

    Energy Technology Data Exchange (ETDEWEB)

    Actis, Stefano [Inst. fuer Theoretische Physik E, RWTH Aachen (Germany); Czakon, Michal [Wuerzburg Univ. (Germany). Inst. fuer Theoretische Physik und Astrophysik]|[Uniwersytet Slaski, Katowice (Poland). Inst. of Physics and Chemistry of Metals; Gluza, Janusz [Uniwersytet Slaski, Katowice (Poland). Inst. of Physics and Chemistry of Metals; Riemann, Tord [Deutsches Elektronen-Synchrotron (DESY), Zeuthen (Germany)

    2008-07-15

    Effects of vacuum polarization by hadronic and heavy-fermion insertions were the last unknown two-loop QED corrections to high-energy Bhabha scattering. Here we describe the corrections in detail and explore their numerical influence. The hadronic contributions to the virtual O({alpha}{sup 2}) QED corrections to the Bhabha-scattering cross-section are evaluated using dispersion relations and computing the convolution of hadronic data with perturbatively calculated kernel functions. The technique of dispersion integrals is also employed to derive the virtual O({alpha}{sup 2}) corrections generated by muon-, tau- and top-quark loops in the small electron-mass limit for arbitrary values of the internal-fermion masses. At a meson factory with 1 GeV center-of-mass energy the complete effect of hadronic and heavy-fermion corrections amounts to less than 0.5 per mille and reaches, at 10 GeV, up to about 2 per mille. At the Z resonance it amounts to 2.3 per mille at 3 degrees; overall, hadronic corrections are less than 4 per mille. For ILC energies (500 GeV or above), the combined effect of hadrons and heavy fermions becomes 6 per mille at 3 degrees; hadrons contribute less than 20 per mille in the whole angular region. (orig.)

  1. Electroweak vacuum stability and finite quadratic radiative corrections

    Energy Technology Data Exchange (ETDEWEB)

    Masina, Isabella [Ferrara Univ. (Italy). Dipt. di Fisica e Scienze della Terra; INFN, Sezione di Ferrara (Italy); Southern Denmark Univ., Odense (Denmark). CP3-Origins; Southern Denmark Univ., Odense (Denmark). DIAS; Nardini, Germano [Deutsches Elektronen-Synchrotron (DESY), Hamburg (Germany); Quiros, Mariano [Institucio Catalana de Recerca i Estudis Avancats (ICREA), Barcelona (Spain); IFAE-IAB, Barcelona (Spain)

    2015-07-15

    If the Standard Model (SM) is an effective theory, as currently believed, it is valid up to some energy scale Λ to which the Higgs vacuum expectation value is sensitive throughout radiative quadratic terms. The latter ones destabilize the electroweak vacuum and generate the SM hierarchy problem. For a given perturbative Ultraviolet (UV) completion, the SM cutoff can be computed in terms of fundamental parameters. If the UV mass spectrum involves several scales the cutoff is not unique and each SM sector has its own UV cutoff Λ{sub i}. We have performed this calculation assuming the Minimal Supersymmetric Standard Model (MSSM) is the SM UV completion. As a result, from the SM point of view, the quadratic corrections to the Higgs mass are equivalent to finite threshold contributions. For the measured values of the top quark and Higgs masses, and depending on the values of the different cutoffs Λ{sub i}, these contributions can cancel even at renormalization scales as low as multi-TeV, unlike the case of a single cutoff where the cancellation only occurs at Planckian energies, a result originally obtained by Veltman. From the MSSM point of view, the requirement of stability of the electroweak minimum under radiative corrections is incorporated into the matching conditions and provides an extra constraint on the Focus Point solution to the little hierarchy problem in the MSSM. These matching conditions can be employed for precise calculations of the Higgs sector in scenarios with heavy supersymmetric fields.

  2. A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells.

    Science.gov (United States)

    Christensen, Chloe L; Choy, Francis Y M

    2017-02-24

    Ease of design, relatively low cost and a multitude of gene-altering capabilities have all led to the adoption of the sophisticated and yet simple gene editing system: clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9). The CRISPR/Cas9 system holds promise for the correction of deleterious mutations by taking advantage of the homology directed repair pathway and by supplying a correction template to the affected patient's cells. Currently, this technique is being applied in vitro in human-induced pluripotent stem cells (iPSCs) to correct a variety of severe genetic diseases, but has not as of yet been used in iPSCs derived from patients affected with a lysosomal storage disease (LSD). If adopted into clinical practice, corrected iPSCs derived from cells that originate from the patient themselves could be used for therapeutic amelioration of LSD symptoms without the risks associated with allogeneic stem cell transplantation. CRISPR/Cas9 editing in a patient's cells would overcome the costly, lifelong process associated with currently available treatment methods, including enzyme replacement and substrate reduction therapies. In this review, the overall utility of the CRISPR/Cas9 gene editing technique for treatment of genetic diseases, the potential for the treatment of LSDs and methods currently employed to increase the efficiency of this re-engineered biological system will be discussed.

  3. A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells

    Directory of Open Access Journals (Sweden)

    Chloe L. Christensen

    2017-02-01

    Full Text Available Ease of design, relatively low cost and a multitude of gene-altering capabilities have all led to the adoption of the sophisticated and yet simple gene editing system: clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9. The CRISPR/Cas9 system holds promise for the correction of deleterious mutations by taking advantage of the homology directed repair pathway and by supplying a correction template to the affected patient’s cells. Currently, this technique is being applied in vitro in human-induced pluripotent stem cells (iPSCs to correct a variety of severe genetic diseases, but has not as of yet been used in iPSCs derived from patients affected with a lysosomal storage disease (LSD. If adopted into clinical practice, corrected iPSCs derived from cells that originate from the patient themselves could be used for therapeutic amelioration of LSD symptoms without the risks associated with allogeneic stem cell transplantation. CRISPR/Cas9 editing in a patient’s cells would overcome the costly, lifelong process associated with currently available treatment methods, including enzyme replacement and substrate reduction therapies. In this review, the overall utility of the CRISPR/Cas9 gene editing technique for treatment of genetic diseases, the potential for the treatment of LSDs and methods currently employed to increase the efficiency of this re-engineered biological system will be discussed.

  4. Characterization of the complete mitochondrial genome of Marshallagia marshalli and phylogenetic implications for the superfamily Trichostrongyloidea.

    Science.gov (United States)

    Sun, Miao-Miao; Han, Liang; Zhang, Fu-Kai; Zhou, Dong-Hui; Wang, Shu-Qing; Ma, Jun; Zhu, Xing-Quan; Liu, Guo-Hua

    2018-01-01

    Marshallagia marshalli (Nematoda: Trichostrongylidae) infection can lead to serious parasitic gastroenteritis in sheep, goat, and wild ruminant, causing significant socioeconomic losses worldwide. Up to now, the study concerning the molecular biology of M. marshalli is limited. Herein, we sequenced the complete mitochondrial (mt) genome of M. marshalli and examined its phylogenetic relationship with selected members of the superfamily Trichostrongyloidea using Bayesian inference (BI) based on concatenated mt amino acid sequence datasets. The complete mt genome sequence of M. marshalli is 13,891 bp, including 12 protein-coding genes, 22 transfer RNA genes, and 2 ribosomal RNA genes. All protein-coding genes are transcribed in the same direction. Phylogenetic analyses based on concatenated amino acid sequences of the 12 protein-coding genes supported the monophylies of the families Haemonchidae, Molineidae, and Dictyocaulidae with strong statistical support, but rejected the monophyly of the family Trichostrongylidae. The determination of the complete mt genome sequence of M. marshalli provides novel genetic markers for studying the systematics, population genetics, and molecular epidemiology of M. marshalli and its congeners.

  5. A global reference for human genetic variation

    DEFF Research Database (Denmark)

    Auton, Adam; Abecasis, Goncalo R.; M. Altshuler, David

    2015-01-01

    The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals ...

  6. RCM optimization of a system under both preventive and corrective maintenance

    International Nuclear Information System (INIS)

    Bris, R.; Cepin, M.

    2005-01-01

    Testing and maintenance activities of power electrical equipment are an important potential for both risk and cost reduction. A multi-objective maintenance optimization method is presented based on the Genetic Algorithms (GA) technique. The method determines the optimal schedule of preventive maintenance actions based on minimization both selected risk measure and cost. Applied cost model takes into account both preventive and corrective maintenance. This paper also presents application of the methodology to optimize maintenance of a real distribution network 22 kV. Conclusions and recommendations for practice are made on the basis of obtained results. (author)

  7. Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis.

    Science.gov (United States)

    Chen, J; Wang, J; Lin, X Y; Xu, Y W; He, Z H; Li, H Y; Chen, S Q; Jiang, W Y

    2017-04-01

    As there is currently no complete cure for hemophilia A (HA), the identification of pathogenic mutations in factor VIII (FVIII) gene from HA patients and carriers, which can contribute to genetic counseling prenatal diagnosis, and preimplantation genetic diagnosis (PGD), is an important step to prevent HA. A total of 14 unrelated Chinese HA subjects (FVIII activity C, c.304_305insA, c.1594T>A, c.6045G>A, and c.2645_2646insG) were found. The real-time PCR showed that the expression of FVIII mRNAs was lower in HA patients than in normal subjects. Prenatal diagnosis and PGD were successfully performed: Two of three fetuses and four of eight blastomeres were confirmed to be normal. In conclusion, genetic diagnosis of 14 unrelated HA subjects, 20 carrier subjects, three fetuses, and one PGD was successfully performed in our study. © 2016 John Wiley & Sons Ltd.

  8. 'TrueCoinc' software utility for calculation of the true coincidence correction

    International Nuclear Information System (INIS)

    Sudar, S.

    2002-01-01

    The true coincidence correction plays an important role in the overall accuracy of the γ ray spectrometry especially in the case of present-day high volume detectors. The calculation of true coincidence corrections needs detailed nuclear structure information. Recently these data are available in computerized form from the Nuclear Data Centers through the Internet or on a CD-ROM of the Table of Isotopes. The aim has been to develop software for this calculation, using available databases for the levels data. The user has to supply only the parameters of the detector to be used. The new computer program runs under the Windows 95/98 operating system. In the framework of the project a new formula was prepared for calculating the summing out correction and calculation of the intensity of alias lines (sum peaks). The file converter for reading the ENDSF-2 type files was completed. Reading and converting the original ENDSF was added to the program. A computer accessible database of the X rays energies and intensities was created. The X ray emissions were taken in account in the 'summing out' calculation. Calculation of the true coincidence 'summing in' correction was done. The output was arranged to show independently two types of corrections and to calculate the final correction as multiplication of the two. A minimal intensity threshold can be set to show the final list only for the strongest lines. The calculation takes into account all the transitions, independently of the threshold. The program calculates the intensity of X rays (K, L lines). The true coincidence corrections for X rays were calculated. The intensities of the alias γ lines were calculated. (author)

  9. CRISPR/Cas9-Mediated Correction of the FANCD1 Gene in Primary Patient Cells

    Directory of Open Access Journals (Sweden)

    Karolina Skvarova Kramarzova

    2017-06-01

    Full Text Available Fanconi anemia (FA is an inherited condition characterized by impaired DNA repair, physical anomalies, bone marrow failure, and increased incidence of malignancy. Gene editing holds great potential to precisely correct the underlying genetic cause such that gene expression remains under the endogenous control mechanisms. This has been accomplished to date only in transformed cells or their reprogrammed induced pluripotent stem cell counterparts; however, it has not yet been reported in primary patient cells. Here we show the ability to correct a mutation in Fanconi anemia D1 (FANCD1 primary patient fibroblasts. The clustered regularly interspaced short palindromic repeats (CRISPR/Cas9 system was employed to target and correct a FANCD1 gene deletion. Homologous recombination using an oligonucleotide donor was achieved and a pure population of modified cells was obtained by using inhibitors of poly adenosine diphosphate-ribose polymerase (poly ADP-ribose polymerase. FANCD1 function was restored and we did not observe any promiscuous cutting of the CRISPR/Cas9 at off target sites. This consideration is crucial in the context of the pre-malignant FA phenotype. Altogether we show the ability to correct a patient mutation in primary FANCD1 cells in a precise manner. These proof of principle studies support expanded application of gene editing for FA.

  10. Complete Genome Sequence of an Atypical Dengue Virus Serotype 2 Lineage Isolated in Brazil

    Science.gov (United States)

    Salvador, Felipe Scassi; Amorim, Jaime Henrique; Alves, Rubens Prince Santos; Pereira, Sara A.; Ferreira, Luis Carlos Souza

    2015-01-01

    Here, we report the complete polyprotein sequence of a dengue virus 2 strain isolated in Brazil. This virus belongs to the American genotype and has the ability to cause neurovirulence in immunocompetent adult mice. The data presented here may help understand the genetic determinants responsible for neurovirulence. PMID:26184939

  11. Color Mixing Correction for Post-printed Patterns on Colored Background Using Modified Particle Density Model

    OpenAIRE

    Suwa , Misako; Fujimoto , Katsuhito

    2006-01-01

    http://www.suvisoft.com; Color mixing occurs between background and foreground colors when a pattern is post-printed on a colored area because ink is not completely opaque. This paper proposes a new method for the correction of color mixing in line pattern such as characters and stamps, by using a modified particle density model. Parameters of the color correction can be calculated from two sets of foreground and background colors. By employing this method, the colors of foreground patterns o...

  12. Factors influencing workplace violence risk among correctional health workers: insights from an Australian survey.

    Science.gov (United States)

    Cashmore, Aaron W; Indig, Devon; Hampton, Stephen E; Hegney, Desley G; Jalaludin, Bin B

    2016-11-01

    Little is known about the environmental and organisational determinants of workplace violence in correctional health settings. This paper describes the views of health professionals working in these settings on the factors influencing workplace violence risk. All employees of a large correctional health service in New South Wales, Australia, were invited to complete an online survey. The survey included an open-ended question seeking the views of participants about the factors influencing workplace violence in correctional health settings. Responses to this question were analysed using qualitative thematic analysis. Participants identified several factors that they felt reduced the risk of violence in their workplace, including: appropriate workplace health and safety policies and procedures; professionalism among health staff; the presence of prison guards and the quality of security provided; and physical barriers within clinics. Conversely, participants perceived workplace violence risk to be increased by: low health staff-to-patient and correctional officer-to-patient ratios; high workloads; insufficient or underperforming security staff; and poor management of violence, especially horizontal violence. The views of these participants should inform efforts to prevent workplace violence among correctional health professionals.

  13. Improvement of quantitation in SPECT: Attenuation and scatter correction using non-uniform attenuation data

    International Nuclear Information System (INIS)

    Mukai, T.; Torizuka, K.; Douglass, K.H.; Wagner, H.N.

    1985-01-01

    Quantitative assessment of tracer distribution with single photon emission computed tomography (SPECT) is difficult because of attenuation and scattering of gamma rays within the object. A method considering the source geometry was developed, and effects of attenuation and scatter on SPECT quantitation were studied using phantoms with non-uniform attenuation. The distribution of attenuation coefficients (μ) within the source were obtained by transmission CT. The attenuation correction was performed by an iterative reprojection technique. The scatter correction was done by convolution of the attenuation corrected image and an appropriate filter made by line source studies. The filter characteristics depended on μ and SPEC measurement at each pixel. The SPECT obtained by this method showed the most reasonable results than the images reconstructed by other methods. The scatter correction could compensate completely for a 28% scatter components from a long line source, and a 61% component for thick and extended source. Consideration of source geometries was necessary for effective corrections. The present method is expected to be valuable for the quantitative assessment of regional tracer activity

  14. The role of genetic research in autism treatment Phelan-McDermid syndrome: Sasha’s story

    Directory of Open Access Journals (Sweden)

    Solovyeva N.V.

    2016-06-01

    Full Text Available Different syndromes hide under the mask of autism. Each is caused by a certain genetic fault disturbing the development of the brain and leading to symptoms of autism showing. A correctly done genetic diagnosis helps to avoid mistakes when choosing a way of treatment. The focus of this article is Phelan-McDermid Syndrome, an autism spectrum disorder. The clinical example provided is Sasha’s story: how his treatment changed after specifying the diagnosis.

  15. Closure Report for Corrective Action Unit 573: Alpha Contaminated Sites Nevada National Security Site, Nevada

    Energy Technology Data Exchange (ETDEWEB)

    Matthews, Patrick [Navarro, Las Vegas, NV (United States)

    2017-03-01

    stakeholders as preferred corrective action for the debris pile at CAS 05-45-01 (Hamilton). The closure in place was accomplished by posting signs containing a warning label on the existing contamination area fence line; and recording the FFACO UR and administrative UR in the FFACO database, the NNSA/NFO CAU/CAS files, and the management and operating contractor Geographic Information Systems. The clean closure was accomplished by excavating the soil/debris pile, disposing of the contents at the Area 5 Radioactive Waste Management Complex, and collecting verification samples. The corrective actions were implemented as stipulated in the CADD/CAP, and verification sample results confirm that the criteria for the completion of corrective actions have been met. Based on the implementation of these corrective actions, NNSA/NFO provides the following recommendations: No further corrective actions are necessary for CAU 573; The Nevada Division of Environmental Protection should issue a Notice of Completion to NNSA/NFO for closure of CAU 573; CAU 573 should be moved from Appendix III to Appendix IV of the FFACO.

  16. Genetic influences on level and stability of self-esteem

    OpenAIRE

    Neiss, Michelle; Sedikides, Constantine; Stevenson, Jim

    2006-01-01

    We attempted to clarify the relation between self-esteem level (high vs. low) and perceived self-esteem stability (within-person variability) by using a behavioral genetics approach. We tested whether the same or independent genetic and environmental influences impact on level and stability. Adolescent twin siblings (n = 183 pairs) completed level and stability scales at two time points. Heritability for both was substantial. The remaining variance in each was attributable to non-shared envir...

  17. Correction of β-thalassemia mutant by base editor in human embryos

    Directory of Open Access Journals (Sweden)

    Puping Liang

    2017-09-01

    Full Text Available Abstract β-Thalassemia is a global health issue, caused by mutations in the HBB gene. Among these mutations, HBB −28 (A>G mutations is one of the three most common mutations in China and Southeast Asia patients with β-thalassemia. Correcting this mutation in human embryos may prevent the disease being passed onto future generations and cure anemia. Here we report the first study using base editor (BE system to correct disease mutant in human embryos. Firstly, we produced a 293T cell line with an exogenous HBB −28 (A>G mutant fragment for gRNAs and targeting efficiency evaluation. Then we collected primary skin fibroblast cells from a β-thalassemia patient with HBB −28 (A>G homozygous mutation. Data showed that base editor could precisely correct HBB −28 (A>G mutation in the patient’s primary cells. To model homozygous mutation disease embryos, we constructed nuclear transfer embryos by fusing the lymphocyte or skin fibroblast cells with enucleated in vitro matured (IVM oocytes. Notably, the gene correction efficiency was over 23.0% in these embryos by base editor. Although these embryos were still mosaic, the percentage of repaired blastomeres was over 20.0%. In addition, we found that base editor variants, with narrowed deamination window, could promote G-to-A conversion at HBB −28 site precisely in human embryos. Collectively, this study demonstrated the feasibility of curing genetic disease in human somatic cells and embryos by base editor system.

  18. Characterization of the complete mitochondrial genomes of two whipworms Trichuris ovis and Trichuris discolor (Nematoda: Trichuridae).

    Science.gov (United States)

    Liu, Guo-Hua; Wang, Yan; Xu, Min-Jun; Zhou, Dong-Hui; Ye, Yong-Gang; Li, Jia-Yuan; Song, Hui-Qun; Lin, Rui-Qing; Zhu, Xing-Quan

    2012-12-01

    For many years, whipworms (Trichuris spp.) have been described with a relatively narrow range of both morphological and biometrical features. Moreover, there has been insufficient discrimination between congeners (or closely related species). In the present study, we determined the complete mitochondrial (mt) genomes of two whipworms Trichuris ovis and Trichuris discolor, compared them and then tested the hypothesis that T. ovis and T. discolor are distinct species by phylogenetic analyses using Bayesian inference, maximum likelihood and maximum parsimony) based on the deduced amino acid sequences of the mt protein-coding genes. The complete mt genomes of T. ovis and T. discolor were 13,946 bp and 13,904 bp in size, respectively. Both mt genomes are circular, and consist of 37 genes, including 13 genes coding for proteins, 2 genes for rRNA, and 22 genes for tRNA. The gene content and arrangement are identical to that of human and pig whipworms Trichuris trichiura and Trichuris suis. Taken together, these analyses showed genetic distinctiveness and strongly supported the recent proposal that T. ovis and T. discolor are distinct species using nuclear ribosomal DNA and a portion of the mtDNA sequence dataset. The availability of the complete mtDNA sequences of T. ovis and T. discolor provides novel genetic markers for studying the population genetics, diagnostics and molecular epidemiology of T. ovis and T. discolor. Copyright © 2012 Elsevier B.V. All rights reserved.

  19. Combining Single Strand Oligodeoxynucleotides and CRISPR/Cas9 to Correct Gene Mutations in β-Thalassemia-induced Pluripotent Stem Cells.

    Science.gov (United States)

    Niu, Xiaohua; He, Wenyin; Song, Bing; Ou, Zhanhui; Fan, Di; Chen, Yuchang; Fan, Yong; Sun, Xiaofang

    2016-08-05

    β-Thalassemia (β-Thal) is one of the most common genetic diseases in the world. The generation of patient-specific β-Thal-induced pluripotent stem cells (iPSCs), correction of the disease-causing mutations in those cells, and then differentiation into hematopoietic stem cells offers a new therapeutic strategy for this disease. Here, we designed a CRISPR/Cas9 to specifically target the Homo sapiens hemoglobin β (HBB) gene CD41/42(-CTTT) mutation. We demonstrated that the combination of single strand oligodeoxynucleotides with CRISPR/Cas9 was capable of correcting the HBB gene CD41/42 mutation in β-Thal iPSCs. After applying a correction-specific PCR assay to purify the corrected clones followed by sequencing to confirm mutation correction, we verified that the purified clones retained full pluripotency and exhibited normal karyotyping. Additionally, whole-exome sequencing showed that the mutation load to the exomes was minimal after CRISPR/Cas9 targeting. Furthermore, the corrected iPSCs were selected for erythroblast differentiation and restored the expression of HBB protein compared with the parental iPSCs. This method provides an efficient and safe strategy to correct the HBB gene mutation in β-Thal iPSCs. © 2016 by The American Society for Biochemistry and Molecular Biology, Inc.

  20. The complete mitochondrial genomes of five Eimeria species infecting domestic rabbits.

    Science.gov (United States)

    Liu, Guo-Hua; Tian, Si-Qin; Cui, Ping; Fang, Su-Fang; Wang, Chun-Ren; Zhu, Xing-Quan

    2015-12-01

    Rabbit coccidiosis caused by members of the genus Eimeria can cause enormous economic impact worldwide, but the genetics, epidemiology and biology of these parasites remain poorly understood. In the present study, we sequenced and annotated the complete mitochondrial (mt) genomes of five Eimeria species that commonly infect the domestic rabbits. The complete mt genomes of Eimeria intestinalis, Eimeria flavescens, Eimeria media, Eimeria vejdovskyi and Eimeria irresidua were 6261bp, 6258bp, 6168bp, 6254bp, 6259bp in length, respectively. All of the mt genomes consist of 3 genes for proteins (cytb, cox1, and cox3), 14 gene fragments for the large subunit (LSU) rRNA and 11 gene fragments for the small subunit (SSU) rRNA, but no transfer RNA (tRNA) genes. The gene order of the mt genomes is similar to that of Plasmodium, but distinct from Haemosporida and Theileria. Phylogenetic analyses based on full nucleotide sequences using Bayesian analysis revealed that the monophyly of the Eimeria of rabbits was strongly statistically supported with a Bayesian posterior probabilities. These data provide novel mtDNA markers for studying the population genetics and molecular epidemiology of the Eimeria species, and should have implications for the molecular diagnosis, prevention and control of coccidiosis in rabbits. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. 76 FR 58037 - Notice of Inventory Completion for Native American Human Remains and Associated Funerary Objects...

    Science.gov (United States)

    2011-09-19

    ... Mexico; and Pueblo of Zia, New Mexico. History and Description of the Remains Upon preparation for... Historical Society (History Colorado), Denver, CO; Correction AGENCY: National Park Service, Interior. ACTION...-10909, February 20, 2001). The Colorado Historical Society (History Colorado) completed an inventory of...

  2. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

    DEFF Research Database (Denmark)

    Posthuma, Daniëlle; Baare, Wim F.C.; Hulshoff Pol, Hilleke E.

    2003-01-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization...... to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related...

  3. Paper-pen peer-correction versus wiki-based peer-correction

    Directory of Open Access Journals (Sweden)

    Froldova Vladimira

    2016-01-01

    Full Text Available This study reports on the comparison of the students’ achievement and their attitudes towards the use of paper-pen peer-correction and wiki-based peer-correction within English language lessons and CLIL Social Science lessons at the higher secondary school in Prague. Questionnaires and semi-structured interviews were utilized to gather information. The data suggests that students made considerable use of wikis and showed higher degrees of motivation in wiki-based peer-correction during English language lessons than in CLIL Social Science lessons. In both cases wikis not only contributed to developing students’ writing skills, but also helped students recognize the importance of collaboration.

  4. Multi-shape pulse pile-up correction: The MCPPU code

    International Nuclear Information System (INIS)

    Sabbatucci, Lorenzo; Scot, Viviana; Fernandez, Jorge E.

    2014-01-01

    In spectroscopic measurements with high counting rate, pulse pile-up (PPU) is a common distortion of the spectrum. It is fully ascribable to the pulse handling circuitry of the detector and it is not comprised in the detector response function which is well explained by a purely physical model. Since PPU occurs after the transport inside the detector, this is the first correction to perform in case of spectrum unfolding. Many producers include electronic rejection circuits to limit the appearance of PPU, but it is never suppressed completely. Therefore, it is always necessary to correct PPU distortions after the measurement. In the present work, it is described the post-processing tool MCPPU (Monte Carlo Pulse Pile-Up), based on the MC algorithm developed by Guo et al. (2004, 2005). MCPPU automatically determines the dead time of the counting system and corrects for PPU effects even in the presence of electronic suppression. The capability of allowing a user defined pulse shape makes the code suitable to be used with any kind of detector. The features of MCPPU are illustrated with some examples. - Highlights: • Pulse pile-up (PPU) is a common distortion in radiation detection. • MCPPU is a Monte Carlo code to perform post-processing PPU correction. • MCPPU evaluates automatically the dead time to use in the pile-up recovery. • The measured pulse shape can be introduced as a normalized discrete distribution. • MCPPU is compatible with detectors using electronic rejection circuitry

  5. Population-genetic approach to standardization of radiation and non-radiation factors

    International Nuclear Information System (INIS)

    Telnov, I.

    2006-01-01

    population level. Of 65 analyses of association between diseases and unfavorable effects and various genetic polymorphic systems, 27 had negative results. Other 38 had significant, i.e. positive results. Respective G.S.R.R. varied accordingly in the range from 1.2 to 2.5. Averaged G.S.R.R. for some genetic systems ranged from 1.4 to 1.9. More stable and closer values of averaged G.S.R.R. calculated for various categories of effects: pathologies due to radiation and non-radiation factors - 1.51; non-tumor (1,47) and tumor (1,54) diseases; average life expectancy - 1.34. Population-averaged or integral value of G.S.R.R. was about 1.5. This value can be used as genetic predisposition coefficient (C.G.P.) for correction in averaging of environmental population level factors. Such correction can be done by decreasing of permissible standard value by the value of C.G.P. to calculate population-genetic standard. It should be noted that population-genetic standards decrease risk of development of unfavorable consequences due to effect of environmental factors in individuals with genetic predisposition to the general population level. An important advantage of this approach is that there is no need to account for all existing variations of genetic predisposition to multiform unfavorable environmental factors

  6. The complete chloroplast genome sequence of Dodonaea viscosa: comparative and phylogenetic analyses.

    Science.gov (United States)

    Saina, Josphat K; Gichira, Andrew W; Li, Zhi-Zhong; Hu, Guang-Wan; Wang, Qing-Feng; Liao, Kuo

    2018-02-01

    The plant chloroplast (cp) genome is a highly conserved structure which is beneficial for evolution and systematic research. Currently, numerous complete cp genome sequences have been reported due to high throughput sequencing technology. However, there is no complete chloroplast genome of genus Dodonaea that has been reported before. To better understand the molecular basis of Dodonaea viscosa chloroplast, we used Illumina sequencing technology to sequence its complete genome. The whole length of the cp genome is 159,375 base pairs (bp), with a pair of inverted repeats (IRs) of 27,099 bp separated by a large single copy (LSC) 87,204 bp, and small single copy (SSC) 17,972 bp. The annotation analysis revealed a total of 115 unique genes of which 81 were protein coding, 30 tRNA, and four ribosomal RNA genes. Comparative genome analysis with other closely related Sapindaceae members showed conserved gene order in the inverted and single copy regions. Phylogenetic analysis clustered D. viscosa with other species of Sapindaceae with strong bootstrap support. Finally, a total of 249 SSRs were detected. Moreover, a comparison of the synonymous (Ks) and nonsynonymous (Ka) substitution rates in D. viscosa showed very low values. The availability of cp genome reported here provides a valuable genetic resource for comprehensive further studies in genetic variation, taxonomy and phylogenetic evolution of Sapindaceae family. In addition, SSR markers detected will be used in further phylogeographic and population structure studies of the species in this genus.

  7. Robust recurrent neural network modeling for software fault detection and correction prediction

    International Nuclear Information System (INIS)

    Hu, Q.P.; Xie, M.; Ng, S.H.; Levitin, G.

    2007-01-01

    Software fault detection and correction processes are related although different, and they should be studied together. A practical approach is to apply software reliability growth models to model fault detection, and fault correction process is assumed to be a delayed process. On the other hand, the artificial neural networks model, as a data-driven approach, tries to model these two processes together with no assumptions. Specifically, feedforward backpropagation networks have shown their advantages over analytical models in fault number predictions. In this paper, the following approach is explored. First, recurrent neural networks are applied to model these two processes together. Within this framework, a systematic networks configuration approach is developed with genetic algorithm according to the prediction performance. In order to provide robust predictions, an extra factor characterizing the dispersion of prediction repetitions is incorporated into the performance function. Comparisons with feedforward neural networks and analytical models are developed with respect to a real data set

  8. Closure Report for Corrective Action Unit 547: Miscellaneous Contaminated Waste Sites, Nevada National Security Site, Nevada

    Energy Technology Data Exchange (ETDEWEB)

    NSTec Environmental Restoration

    2012-07-17

    This Closure Report (CR) presents information supporting closure of Corrective Action Unit (CAU) 547, Miscellaneous Contaminated Waste Sites, and provides documentation supporting the completed corrective actions and confirmation that closure objectives for CAU 547 were met. This CR complies with the requirements of the Federal Facility Agreement and Consent Order (FFACO) that was agreed to by the State of Nevada; the U.S. Department of Energy (DOE), Environmental Management; the U.S. Department of Defense; and DOE, Legacy Management (FFACO, 1996 as amended). CAU 547 consists of the following three Corrective Action Sites (CASs), located in Areas 2, 3, and 9 of the Nevada National Security Site: (1) CAS 02-37-02, Gas Sampling Assembly; (2) CAS 03-99-19, Gas Sampling Assembly; AND (3) CAS 09-99-06, Gas Sampling Assembly Closure activities began in August 2011 and were completed in June 2012. Activities were conducted according to the Corrective Action Decision Document/Corrective Action Plan (CADD/CAP) for CAU 547 (U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office [NNSA/NSO], 2011). The recommended corrective action for the three CASs in CAU 547 was closure in place with administrative controls. The following closure activities were performed: (1) Open holes were filled with concrete; (2) Steel casings were placed over vertical expansion joints and filled with cement; (3) Engineered soil covers were constructed over piping and exposed sections of the gas sampling system components; (4) Fencing, monuments, Jersey barriers, radiological postings, and use restriction (UR) warning signs were installed around the perimeters of the sites; (5) Housekeeping debris was picked up from around the sites and disposed; and (6) Radiological surveys were performed to confirm final radiological postings. UR documentation is included in Appendix D. The post-closure plan was presented in detail in the CADD/CAP for CAU 547 and is included as

  9. Closure Report for Corrective Action Unit 547: Miscellaneous Contaminated Waste Sites, Nevada National Security Site, Nevada

    International Nuclear Information System (INIS)

    2012-01-01

    This Closure Report (CR) presents information supporting closure of Corrective Action Unit (CAU) 547, Miscellaneous Contaminated Waste Sites, and provides documentation supporting the completed corrective actions and confirmation that closure objectives for CAU 547 were met. This CR complies with the requirements of the Federal Facility Agreement and Consent Order (FFACO) that was agreed to by the State of Nevada; the U.S. Department of Energy (DOE), Environmental Management; the U.S. Department of Defense; and DOE, Legacy Management (FFACO, 1996 as amended). CAU 547 consists of the following three Corrective Action Sites (CASs), located in Areas 2, 3, and 9 of the Nevada National Security Site: (1) CAS 02-37-02, Gas Sampling Assembly; (2) CAS 03-99-19, Gas Sampling Assembly; AND (3) CAS 09-99-06, Gas Sampling Assembly Closure activities began in August 2011 and were completed in June 2012. Activities were conducted according to the Corrective Action Decision Document/Corrective Action Plan (CADD/CAP) for CAU 547 (U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office [NNSA/NSO], 2011). The recommended corrective action for the three CASs in CAU 547 was closure in place with administrative controls. The following closure activities were performed: (1) Open holes were filled with concrete; (2) Steel casings were placed over vertical expansion joints and filled with cement; (3) Engineered soil covers were constructed over piping and exposed sections of the gas sampling system components; (4) Fencing, monuments, Jersey barriers, radiological postings, and use restriction (UR) warning signs were installed around the perimeters of the sites; (5) Housekeeping debris was picked up from around the sites and disposed; and (6) Radiological surveys were performed to confirm final radiological postings. UR documentation is included in Appendix D. The post-closure plan was presented in detail in the CADD/CAP for CAU 547 and is included as

  10. Genetic architecture of the Delis-Kaplan Executive Function System Trail Making Test: evidence for distinct genetic influences on executive function.

    Science.gov (United States)

    Vasilopoulos, Terrie; Franz, Carol E; Panizzon, Matthew S; Xian, Hong; Grant, Michael D; Lyons, Michael J; Toomey, Rosemary; Jacobson, Kristen C; Kremen, William S

    2012-03-01

    To examine how genes and environments contribute to relationships among Trail Making Test (TMT) conditions and the extent to which these conditions have unique genetic and environmental influences. Participants included 1,237 middle-aged male twins from the Vietnam Era Twin Study of Aging. The Delis-Kaplan Executive Function System TMT included visual searching, number and letter sequencing, and set-shifting components. Phenotypic correlations among TMT conditions ranged from 0.29 to 0.60, and genes accounted for the majority (58-84%) of each correlation. Overall heritability ranged from 0.34 to 0.62 across conditions. Phenotypic factor analysis suggested a single factor. In contrast, genetic models revealed a single common genetic factor but also unique genetic influences separate from the common factor. Genetic variance (i.e., heritability) of number and letter sequencing was completely explained by the common genetic factor while unique genetic influences separate from the common factor accounted for 57% and 21% of the heritabilities of visual search and set shifting, respectively. After accounting for general cognitive ability, unique genetic influences accounted for 64% and 31% of those heritabilities. A common genetic factor, most likely representing a combination of speed and sequencing, accounted for most of the correlation among TMT 1-4. Distinct genetic factors, however, accounted for a portion of variance in visual scanning and set shifting. Thus, although traditional phenotypic shared variance analysis techniques suggest only one general factor underlying different neuropsychological functions in nonpatient populations, examining the genetic underpinnings of cognitive processes with twin analysis can uncover more complex etiological processes.

  11. Complete eversion and prolapse of bladder following pulling out of a Foley catheter concurrent with uterine prolapse

    Directory of Open Access Journals (Sweden)

    Amulya M Acharya

    2007-01-01

    Full Text Available Complete eversion and transurethral prolapse of the urinary bladder is rare. We report a case of complete eversion and prolapse of bladder that occurred due to self pulling out of an indwelling Foley catheter in a 72-year-old woman. She presented with retention of urine concurrent with complete uterine procidentia. An indwelling Foley catheter was given to relieve the retention. The senile lady pulled out the catheter resulting in complete transurethral prolapse with bladder eversion. Under injection Midazolam sedation and with application of xylocain jelly the prolapsed bladder could be reduced manually back through the urethra. Definite corrective surgery was done later for the uterine prolapse.

  12. Nuclear security. Improving correction of security deficiencies at DOE's weapons facilities

    International Nuclear Information System (INIS)

    Wells, James E.; Cannon, Doris E.; Fenzel, William F.; Lightner, Kenneth E. Jr.; Curtis, Lois J.; DuBois, Julia A.; Brown, Gail W.; Trujillo, Charles S.; Tumler, Pamela K.

    1992-11-01

    The US nuclear weapons research, development, and production are conducted at 10 DOE nuclear weapons facilities by contractors under the guidance and oversight of 9 DOE field offices. Because these facilities house special nuclear materials used in making nuclear weapons and nuclear weapons components, DOE administers a security program to protect (1) against theft, sabotage, espionage, terrorism, or other risks to national security and (2) the safety and health of DOE employees and the public. DOE spends almost $1 billion a year on this security program. DOE administers the security program through periodic inspections that evaluate and monitor the effectiveness of facilities' safeguards and security. Security inspections identify deficiencies, instances of noncompliance with safeguards and security requirements or poor performance of the systems being evaluated, that must be corrected to maintain adequate security. The contractors and DOE share responsibility for correcting deficiencies. Contractors, in correcting deficiencies, must comply with several DOE orders. The contractors' performances were not adequate in conducting four of the eight procedures considered necessary in meeting DOE's deficiency correction requirements. For 19 of the 20 deficiency cases we reviewed, contractors could not demonstrate that they had conducted three critical deficiency analyses (root cause, risk assessment, and cost-benefit) required by DOE. Additionally, the contractors did not always adequately verify that corrective actions taken were appropriate, effective, and complete. The contractors performed the remaining four procedures (reviewing deficiencies for duplication, entering deficiencies into a data base, tracking the status of deficiencies, and preparing and implementing a corrective action plan) adequately in all 20 cases. DOE's oversight of the corrective action process could be improved in three areas. The computerized systems used to track the status of security

  13. Author Correction

    DEFF Research Database (Denmark)

    Grundle, D S; Löscher, C R; Krahmann, G

    2018-01-01

    A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.......A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper....

  14. Complete Genome Sequence of the Endophytic Biocontrol Strain Bacillus velezensis CC09

    OpenAIRE

    Cai, Xunchao; Kang, Xingxing; Xi, Huan; Liu, Changhong; Xue, Yarong

    2016-01-01

    Bacillus velezensis is a heterotypic synonym of B. methylotrophicus, B. amyloliquefaciens subsp. plantarum, and Bacillus oryzicola, and has been used to control plant fungal diseases. In order to fully understand the genetic basis of antimicrobial capacities, we did a complete genome sequencing of the endophytic B.?velezensis strain CC09. Genes tightly associated with biocontrol ability, including nonribosomal peptide synthetases, polyketide synthetases, iron acquisition, colonization, and vo...

  15. Complete genome sequence of porcine parvovirus N strain isolated from guangxi, china.

    Science.gov (United States)

    Su, Qian-Lian; Li, Bin; Zhao, Wu; Liang, Jia-Xing; He, Ying; Qin, Yi-Bin; Lu, Bing-Xia

    2015-01-08

    We report here the complete genomic sequence of the porcine parvovirus (PPV) N strain, isolated in 1989 from the viscera of a stillborn fetus farrowed by a gilt in Guangxi, southern China. Phylogenetic analyses suggest that the PPV-N strain is closely related to attenuated PPV NADL-2 strains. The PPV-N strain has good immunogenicity, genetic stability, and safety. Copyright © 2015 Su et al.

  16. Using multimedia to enhance the consent process for bunion correction surgery.

    Science.gov (United States)

    Batuyong, Eldridge D; Jowett, Andrew J L; Wickramasinghe, Nilmini; Beischer, Andrew D

    2014-04-01

    Obtaining informed consent from patients considering bunion surgery can be challenging. This study assessed the efficacy of a multimedia technology as an adjunct to the informed consent process. A prospective, cohort study was conducted involving 55 patients (7 males, 48 females) who underwent a standardized verbal discussion regarding bunion correction surgery followed by completion of a knowledge questionnaire. A multimedia educational program was then administered and the knowledge questionnaire repeated. Additional supplementary questions were then given regarding satisfaction with the multimedia program. Patients answered 74% questions correctly before the multimedia module compared with 94% after it (P multimedia tool performed as well as the treating surgeon. Multimedia technology is useful in enhancing patient knowledge regarding bunion surgery for the purposes of obtaining informed consent.

  17. NNLO leptonic and hadronic corrections to Bhabha scattering and luminosity monitoring at meson factories

    Energy Technology Data Exchange (ETDEWEB)

    Carloni Calame, C. [Southampton Univ. (United Kingdom). School of Physics; Czyz, H.; Gluza, J.; Gunia, M. [Silesia Univ., Katowice (Poland). Dept. of Field Theory and Particle Physics; Montagna, G. [Pavia Univ. (Italy). Dipt. di Fisica Nucleare e Teorica; INFN, Sezione di Pavia (Italy); Nicrosini, O.; Piccinini, F. [INFN, Sezione di Pavia (Italy); Riemann, T. [Deutsches Elektronen-Synchrotron (DESY), Zeuthen (Germany); Worek, M. [Wuppertal Univ. (Germany). Fachbereich C Physik

    2011-07-15

    Virtual fermionic N{sub f}=1 and N{sub f}=2 contributions to Bhabha scattering are combined with realistic real corrections at next-to-next-to-leading order in QED. The virtual corrections are determined by the package BHANNLOHF, and real corrections with the Monte Carlo generators BHAGEN-1PH, HELAC-PHEGAS and EKHARA. Numerical results are discussed at the energies of and with realistic cuts used at the {phi} factory DA{phi}NE, at the B factories PEP-II and KEK, and at the charm/{tau} factory BEPC II. We compare these complete calculations with the approximate ones realized in the generator BABAYAGA rate at NLO used at meson factories to evaluate their luminosities. For realistic reference event selections we find agreement for the NNLO leptonic and hadronic corrections within 0.07% or better and conclude that they are well accounted for in the generator by comparison with the present experimental accuracy. (orig.)

  18. Corrective Action Investigation Plan for Corrective Action Unit 204: Storage Bunkers, Nevada Test Site, Nevada (December 2002, Revision No.: 0), Including Record of Technical Change No. 1

    Energy Technology Data Exchange (ETDEWEB)

    NNSA/NSO

    2002-12-12

    The Corrective Action Investigation Plan contains the U.S. Department of Energy, National Nuclear Security Administration Nevada Operations Office's approach to collect the data necessary to evaluate corrective action alternatives appropriate for the closure of Corrective Action Unit (CAU) 204 under the Federal Facility Agreement and Consent Order. Corrective Action Unit 204 is located on the Nevada Test Site approximately 65 miles northwest of Las Vegas, Nevada. This CAU is comprised of six Corrective Action Sites (CASs) which include: 01-34-01, Underground Instrument House Bunker; 02-34-01, Instrument Bunker; 03-34-01, Underground Bunker; 05-18-02, Chemical Explosives Storage; 05-33-01, Kay Blockhouse; 05-99-02, Explosive Storage Bunker. Based on site history, process knowledge, and previous field efforts, contaminants of potential concern for Corrective Action Unit 204 collectively include radionuclides, beryllium, high explosives, lead, polychlorinated biphenyls, total petroleum hydrocarbons, silver, warfarin, and zinc phosphide. The primary question for the investigation is: ''Are existing data sufficient to evaluate appropriate corrective actions?'' To address this question, resolution of two decision statements is required. Decision I is to ''Define the nature of contamination'' by identifying any contamination above preliminary action levels (PALs); Decision II is to ''Determine the extent of contamination identified above PALs. If PALs are not exceeded, the investigation is completed. If PALs are exceeded, then Decision II must be resolved. In addition, data will be obtained to support waste management decisions. Field activities will include radiological land area surveys, geophysical surveys to identify any subsurface metallic and nonmetallic debris, field screening for applicable contaminants of potential concern, collection and analysis of surface and subsurface soil samples from biased locations

  19. Mathematical fundamentals for the noise immunity of the genetic code.

    Science.gov (United States)

    Fimmel, Elena; Strüngmann, Lutz

    2018-02-01

    Symmetry is one of the essential and most visible patterns that can be seen in nature. Starting from the left-right symmetry of the human body, all types of symmetry can be found in crystals, plants, animals and nature as a whole. Similarly, principals of symmetry are also some of the fundamental and most useful tools in modern mathematical natural science that play a major role in theory and applications. As a consequence, it is not surprising that the desire to understand the origin of life, based on the genetic code, forces us to involve symmetry as a mathematical concept. The genetic code can be seen as a key to biological self-organisation. All living organisms have the same molecular bases - an alphabet consisting of four letters (nitrogenous bases): adenine, cytosine, guanine, and thymine. Linearly ordered sequences of these bases contain the genetic information for synthesis of proteins in all forms of life. Thus, one of the most fascinating riddles of nature is to explain why the genetic code is as it is. Genetic coding possesses noise immunity which is the fundamental feature that allows to pass on the genetic information from parents to their descendants. Hence, since the time of the discovery of the genetic code, scientists have tried to explain the noise immunity of the genetic information. In this chapter we will discuss recent results in mathematical modelling of the genetic code with respect to noise immunity, in particular error-detection and error-correction. We will focus on two central properties: Degeneracy and frameshift correction. Different amino acids are encoded by different quantities of codons and a connection between this degeneracy and the noise immunity of genetic information is a long standing hypothesis. Biological implications of the degeneracy have been intensively studied and whether the natural code is a frozen accident or a highly optimised product of evolution is still controversially discussed. Symmetries in the structure of

  20. Genetic alterations in syndromes with oral manifestations

    Directory of Open Access Journals (Sweden)

    Krishnamurthy Anuthama

    2013-01-01

    Full Text Available Ever since Gregor Johan Mendel proposed the law of inheritance, genetics has transcended the field of health and has entered all walks of life in its application. Thus, the gene is the pivoting factor for all happenings revolving around it. Knowledge of gene mapping in various diseases would be a valuable tool in prenatally diagnosing the condition and averting the future disability and stigma for the posterity. This article includes an array of genetically determined conditions in patients seen at our college out-patient department with complete manifestation, partial manifestation and array of manifestations not fitting into a particular syndrome.

  1. Electroweak radiative corrections to e+e-→WW→4 fermions in double-pole approximation -- the RACOONWW approach

    International Nuclear Information System (INIS)

    Denner, A.; Dittmaier, S.; Roth, M.; Wackeroth, D.

    2000-01-01

    We calculate the complete O(α) electroweak radiative corrections to e + e - →WW→4f in the electroweak Standard Model in the double-pole approximation. We give analytical results for the non-factorizable virtual corrections and express the factorizable virtual corrections in terms of the known corrections to on-shell W-pair production and W decay. The calculation of the bremsstrahlung corrections, i.e., the processes e + e - →4fγ in lowest order, is based on the full matrix elements. The matching of soft and collinear singularities between virtual and real corrections is done alternatively in two different ways, namely by using a subtraction method and by applying phase-space slicing. The O(α) corrections as well as higher-order initial-state photon radiation are implemented in the Monte Carlo generator RACOONWW. Numerical results of this program are presented for the W-pair-production cross section, angular and W-invariant-mass distributions at LEP2. We also discuss the intrinsic theoretical uncertainty of our approach

  2. Genetic stock identification of Russian honey bees.

    Science.gov (United States)

    Bourgeois, Lelania; Sheppard, Walter S; Sylvester, H Allen; Rinderer, Thomas E

    2010-06-01

    A genetic stock certification assay was developed to distinguish Russian honey bees from other European (Apis mellifera L.) stocks that are commercially produced in the United States. In total, 11 microsatellite and five single-nucleotide polymorphism loci were used. Loci were selected for relatively high levels of homogeneity within each group and for differences in allele frequencies between groups. A baseline sample consisted of the 18 lines of Russian honey bees released to the Russian Bee Breeders Association and bees from 34 queen breeders representing commercially produced European honey bee stocks. Suitability tests of the baseline sample pool showed high levels of accuracy. The probability of correct assignment was 94.2% for non-Russian bees and 93.3% for Russian bees. A neighbor-joining phenogram representing genetic distance data showed clear distinction of Russian and non-Russian honey bee stocks. Furthermore, a test of appropriate sample size showed a sample of eight bees per colony maximizes accuracy and consistency of the results. An additional 34 samples were tested as blind samples (origin unknown to those collecting data) to determine accuracy of individual assignment tests. Only one of these samples was incorrectly assigned. The 18 current breeding lines were represented among the 2009 blind sampling, demonstrating temporal stability of the genetic stock identification assay. The certification assay will be used through services provided by a service laboratory, by the Russian Bee Breeders Association to genetically certify their stock. The genetic certification will be used in conjunction with continued selection for favorable traits, such as honey production and varroa and tracheal mite resistance.

  3. Publisher Correction

    DEFF Research Database (Denmark)

    Turcot, Valérie; Lu, Yingchang; Highland, Heather M

    2018-01-01

    In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article.......In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article....

  4. A precise technique for manufacturing correction coil

    International Nuclear Information System (INIS)

    Schieber, L.

    1992-01-01

    An automated method of manufacturing correction coils has been developed which provides a precise embodiment of the coil design. Numerically controlled machines have been developed to accurately position coil windings on the beam tube. Two types of machines have been built. One machine bonds the wire to a substrate which is wrapped around the beam tube after it is completed while the second machine bonds the wire directly to the beam tube. Both machines use the Multiwire reg-sign technique of bonding the wire to the substrate utilizing an ultrasonic stylus. These machines are being used to manufacture coils for both the SSC and RHIC

  5. A first experience with digital complete overdentures

    Directory of Open Access Journals (Sweden)

    Salwa Omar Bajunaid

    2016-07-01

    Full Text Available The development of computer-aided design/computer-aided manufacturing systems for dentistry in the 1980s resulted in the successful fabrication of crowns, fixed dental prostheses, and superstructures for both natural teeth and dental implants. Today, this technology is available for constructing digitally designed and milled, completely removable dental prostheses. The procedure uses clinical and laboratory protocols that allow fabrication of completely removable prostheses within two clinical appointments. The aim of this clinical report is to present the author’s first experience with digital complete overdentures, the practicality of this technology, and patient feedback. Compared with conventional overdentures, the fit of the digital prostheses was improved because the cameo and flanges of the prostheses were nicely shaped and rolled, and this enhanced their stability and retention. Occlusion was also excellent. However, aesthetics in terms of the alignment, shape, and size of the maxillary overdenture teeth were inacceptable. Despite some of the drawbacks identified in our study, the use of removable digital dentures does provide excellent adaptation of the denture base and requires fewer clinic visits. We anticipate that the unsatisfactory aesthetic outcomes presented in this report can be corrected with more experience. We also believe that acquiring an in-house scanning machine would be beneficial. We highly recommend including this technique in dental school curriculums at both the undergraduate and graduate levels in order to keep students and residents up to date on the latest technology available.

  6. A first experience with digital complete overdentures.

    Science.gov (United States)

    Bajunaid, Salwa Omar

    2016-07-01

    The development of computer-aided design/computer-aided manufacturing systems for dentistry in the 1980s resulted in the successful fabrication of crowns, fixed dental prostheses, and superstructures for both natural teeth and dental implants. Today, this technology is available for constructing digitally designed and milled, completely removable dental prostheses. The procedure uses clinical and laboratory protocols that allow fabrication of completely removable prostheses within two clinical appointments. The aim of this clinical report is to present the author's first experience with digital complete overdentures, the practicality of this technology, and patient feedback. Compared with conventional overdentures, the fit of the digital prostheses was improved because the cameo and flanges of the prostheses were nicely shaped and rolled, and this enhanced their stability and retention. Occlusion was also excellent. However, aesthetics in terms of the alignment, shape, and size of the maxillary overdenture teeth were inacceptable. Despite some of the drawbacks identified in our study, the use of removable digital dentures does provide excellent adaptation of the denture base and requires fewer clinic visits. We anticipate that the unsatisfactory aesthetic outcomes presented in this report can be corrected with more experience. We also believe that acquiring an in-house scanning machine would be beneficial. We highly recommend including this technique in dental school curriculums at both the undergraduate and graduate levels in order to keep students and residents up to date on the latest technology available.

  7. A genetic diagnosis of maturity-onset diabetes of the young (MODY): experiences of patients and family members.

    Science.gov (United States)

    Bosma, A R; Rigter, T; Weinreich, S S; Cornel, M C; Henneman, L

    2015-10-01

    Genetic testing for maturity-onset diabetes of the young (MODY) facilitates a correct diagnosis, enabling treatment optimization and allowing monitoring of asymptomatic family members. To date, the majority of people with MODY remain undiagnosed. To identify patients' needs and areas for improving care, this study explores the experiences of patients and family members who have been genetically tested for MODY. Fourteen semi-structured interviews with patients and the parents of patients, and symptomatic and asymptomatic family members were conducted. Atlas.ti was used for thematic analysis. Most people with MODY were initially misdiagnosed with Type 1 or Type 2 diabetes; they had been seeking for the correct diagnosis for a long time. Reasons for having a genetic test included reassurance, removing the uncertainty of developing diabetes (in asymptomatic family members) and informing relatives. Reasons against testing were the fear of genetic discrimination and not having symptoms. Often a positive genetic test result did not come as a surprise. Both patients and family members were satisfied with the decision to get tested because it enabled them to adjust their lifestyle and treatment accordingly. All participants experienced a lack of knowledge of MODY among healthcare professionals, in their social environment and in patient organizations. Additionally, problems with the reimbursement of medical expenses were reported. Patients and family members are generally positive about genetic testing for MODY. More education of healthcare professionals and attention on the part of diabetes organizations is needed to increase awareness and optimize care and support for people with MODY. © 2015 The Authors. Diabetic Medicine © 2015 Diabetes UK.

  8. SOCIAL INTERACTIONS AND FEELINGS OF INFERIORITY AMONG CORRECTIONAL OFFICERS - A DAILY EVENT-RECORDING APPROACH

    NARCIS (Netherlands)

    PEETERS, MCW; BUUNK, BP; SCHAUFELI, WB

    1995-01-01

    A daily event-recording method, referred to as the Daily Interaction Record in Organizations (DIRO) was employed for assessing the influence of three types of social interaction on negative affect at work. For this purpose, 38 correctional officers (COs) completed forms, for a 1-week period, that

  9. [The effect of pre-surgical orthodontics on secondary alveolar bone grafting in the patients with complete cleft lip and palate].

    Science.gov (United States)

    Jia, Yi-lin; Fu, Min-kui; Ma, Lian

    2004-05-01

    To examine the effect of pre-surgical orthodontics on the outcome of the secondary alveolar bone grafting in the patients with complete cleft lip and palate. Sixteen complete cleft lip and palate patients (9 males and 7 females) with collapsed upper arch or severe mal-positioned upper incisors were selected. The cleft was not easily grafted because of the poor access. The total cleft sites were 22 (10 patients with UCLP and 6 patients with BCLP). The age range of the patients was from 8 to 22 years. Pre-surgical orthodontic treatment was mainly to expand the collapsed upper arch and correct the mal-positioned upper incisors. After the secondary alveolar bone grafting, the patients were followed up and anterior occlusal radiograph/intraoral panograph were taken regularly. The observation period was from 6 months to 4 years. Bergland criteria were used to evaluate the interdental septal height. Upper arch expansion and the correction of the mal-positioned upper incisors done by the orthodontic treatment made the bone grafting procedure easier. The clinically successful rate reached 86%. The severe upper arch collapse and mal-positioned upper incisors in the patients with complete cleft lip and palate should be corrected orthodontically before the secondary alveolar bone grafting.

  10. Implementation of electronic crosstalk correction for terra MODIS PV LWIR bands

    Science.gov (United States)

    Geng, Xu; Madhavan, Sriharsha; Chen, Na; Xiong, Xiaoxiong

    2015-09-01

    The MODerate-resolution Imaging Spectroradiometer (MODIS) is one of the primary instruments in the fleet of NASA's Earth Observing Systems (EOS) in space. Terra MODIS has completed 15 years of operation far exceeding its design lifetime of 6 years. The MODIS Level 1B (L1B) processing is the first in the process chain for deriving various higher level science products. These products are used mainly in understanding the geophysical changes occurring in the Earth's land, ocean, and atmosphere. The L1B code is designed to carefully calibrate the responses of all the detectors of the 36 spectral bands of MODIS and provide accurate L1B radiances (also reflectances in the case of Reflective Solar Bands). To fulfill this purpose, Look Up Tables (LUTs), that contain calibration coefficients derived from both on-board calibrators and Earth-view characterized responses, are used in the L1B processing. In this paper, we present the implementation mechanism of the electronic crosstalk correction in the Photo Voltaic (PV) Long Wave InfraRed (LWIR) bands (Bands 27-30). The crosstalk correction involves two vital components. First, a crosstalk correction modular is implemented in the L1B code to correct the on-board Blackbody and Earth-View (EV) digital number (dn) responses using a linear correction model. Second, the correction coefficients, derived from the EV observations, are supplied in the form of LUTs. Further, the LUTs contain time stamps reflecting to the change in the coefficients assessed using the Noise Equivalent difference Temperature (NEdT) trending. With the algorithms applied in the MODIS L1B processing it is demonstrated that these corrections indeed restore the radiometric balance for each of the affected bands and substantially reduce the striping noise in the processed images.

  11. Value of information analysis for corrective action unit No. 98: Frenchman Flat

    International Nuclear Information System (INIS)

    1997-06-01

    A value of information analysis has been completed as part of the corrective action process for Frenchman Flat, the first Nevada Test Site underground test area to be scheduled for the corrective action process. A value of information analysis is a cost-benefit analysis applied to the acquisition of new information which is needed to reduce the uncertainty in the prediction of a contaminant boundary surrounding underground nuclear tests in Frenchman Flat. The boundary location will be established to protect human health and the environment from the consequences of using contaminated groundwater on the Nevada Test Site. Uncertainties in the boundary predictions are assumed to be the result of data gaps. The value of information analysis in this document compares the cost of acquiring new information with the benefit of acquiring that information during the corrective action investigation at Frenchman Flat. Methodologies incorporated into the value of information analysis include previous geological modeling, groundwater flow modeling, contaminant transport modeling, statistics, sensitivity analysis, uncertainty analysis, and decision analysis

  12. Genetic Algorithms Principles Towards Hidden Markov Model

    Directory of Open Access Journals (Sweden)

    Nabil M. Hewahi

    2011-10-01

    Full Text Available In this paper we propose a general approach based on Genetic Algorithms (GAs to evolve Hidden Markov Models (HMM. The problem appears when experts assign probability values for HMM, they use only some limited inputs. The assigned probability values might not be accurate to serve in other cases related to the same domain. We introduce an approach based on GAs to find
    out the suitable probability values for the HMM to be mostly correct in more cases than what have been used to assign the probability values.

  13. Uses of the Twins UK genetic database.

    Science.gov (United States)

    Spector, Tim D

    2007-11-01

    Tim Spector is a Professor of Genetic Epidemiology at King's College London and Director of the Twin Research and Genetic Epidemiology Unit at St Thomas' Hospital, London. Professor Spector graduated from St Bartholomew's Hospital Medical School, London, in 1982. After working in General Medicine, he completed a MSc in Epidemiology, and his MD degree at the University of London in 1989. He founded the UK Twins Registry of 10,000 twins in 1993, which is one of the largest collections of genotype and phenotype information on twins worldwide, whose breadth of research has expanded to cover a wide range of common complex traits many of which were previously thought to be mainly due to aging and the environment. He has published over 350 research articles on common diseases. He has written several original articles on the genetics of a wide range of diseases and traits including back pain, acne, inflammation, obesity, memory, musical ability and sexuality. He is the principal investigator of the EU Euroclot and Treat OA study, and a partner in five others. He has written several books, focusing on osteoporosis and genetics and, in 2003, he published a popular book on genetics: Your Genes Unzipped.

  14. Temporal genetic variability and host sources of Escherichia coli associated with fecal pollution from domesticated animals in the shellfish culture environment of Xiangshan Bay, East China Sea

    International Nuclear Information System (INIS)

    Fu Linglin; Shuai Jiangbing; Wang Yanbo; Ma Hongjia; Li Jianrong

    2011-01-01

    This study was conducted to analyze the genetic variability of Escherichia coli from domesticated animal wastes for microbial source tracking (MST) application in fecal contaminated shellfish growing waters of Xiangshan Bay, East China Sea. (GTG) 5 primer was used to generate 1363 fingerprints from E. coli isolated from feces of known 9 domesticated animal sources around this shellfish culture area. Jackknife analysis of the complete (GTG) 5 -PCR DNA fingerprint library indicated that isolates were assigned to the correct source groups with an 84.28% average rate of correct classification. Based on one-year source tracking data, the dominant sources of E. coli were swine, chickens, ducks and cows in this water area. Moreover, annual and spatial changes of E. coli concentrations and host sources may affect the level and distribution of zoonotic pathogen species in waters. Our findings will further contribute to preventing fecal pollution in aquatic environments and quality control of shellfish. - Highlights: → The host-origin library developed by (GTG) 5 -PCR could be used to shellfish water MST. → Fecal pollution of Xiangshan Bay arose from multiple sources of agricultural wastes. → High level of E. coli concentration in shellfish water increases the health risk. → Annual changes of E. coli host sources affect distribution of zoonotic pathogens. - The temporal genetic variability and dominant host sources of E. coli in fecal contaminated shellfish growing waters of Xiangshan Bay was characterized.

  15. Infidelity of SARS-CoV Nsp14-exonuclease mutant virus replication is revealed by complete genome sequencing.

    Directory of Open Access Journals (Sweden)

    Lance D Eckerle

    2010-05-01

    Full Text Available Most RNA viruses lack the mechanisms to recognize and correct mutations that arise during genome replication, resulting in quasispecies diversity that is required for pathogenesis and adaptation. However, it is not known how viruses encoding large viral RNA genomes such as the Coronaviridae (26 to 32 kb balance the requirements for genome stability and quasispecies diversity. Further, the limits of replication infidelity during replication of large RNA genomes and how decreased fidelity impacts virus fitness over time are not known. Our previous work demonstrated that genetic inactivation of the coronavirus exoribonuclease (ExoN in nonstructural protein 14 (nsp14 of murine hepatitis virus results in a 15-fold decrease in replication fidelity. However, it is not known whether nsp14-ExoN is required for replication fidelity of all coronaviruses, nor the impact of decreased fidelity on genome diversity and fitness during replication and passage. We report here the engineering and recovery of nsp14-ExoN mutant viruses of severe acute respiratory syndrome coronavirus (SARS-CoV that have stable growth defects and demonstrate a 21-fold increase in mutation frequency during replication in culture. Analysis of complete genome sequences from SARS-ExoN mutant viral clones revealed unique mutation sets in every genome examined from the same round of replication and a total of 100 unique mutations across the genome. Using novel bioinformatic tools and deep sequencing across the full-length genome following 10 population passages in vitro, we demonstrate retention of ExoN mutations and continued increased diversity and mutational load compared to wild-type SARS-CoV. The results define a novel genetic and bioinformatics model for introduction and identification of multi-allelic mutations in replication competent viruses that will be powerful tools for testing the effects of decreased fidelity and increased quasispecies diversity on viral replication

  16. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    ... backcross derived line possessing Xa21 + Pi2 and another possessing Xa33 were intercrossed to stack the target resistance genes into the genetic background of RPHR-1005. At ICF4, 10 promising lines possessing three resistance genes in homozygous condition along with fine-grain type, complete fertility restoration, ...

  17. Genetic background in partitioning of metabolizable energy efficiency in dairy cows.

    Science.gov (United States)

    Mehtiö, T; Negussie, E; Mäntysaari, P; Mäntysaari, E A; Lidauer, M H

    2018-05-01

    The main objective of this study was to assess the genetic differences in metabolizable energy efficiency and efficiency in partitioning metabolizable energy in different pathways: maintenance, milk production, and growth in primiparous dairy cows. Repeatability models for residual energy intake (REI) and metabolizable energy intake (MEI) were compared and the genetic and permanent environmental variations in MEI were partitioned into its energy sinks using random regression models. We proposed 2 new feed efficiency traits: metabolizable energy efficiency (MEE), which is formed by modeling MEI fitting regressions on energy sinks [metabolic body weight (BW 0.75 ), energy-corrected milk, body weight gain, and body weight loss] directly; and partial MEE (pMEE), where the model for MEE is extended with regressions on energy sinks nested within additive genetic and permanent environmental effects. The data used were collected from Luke's experimental farms Rehtijärvi and Minkiö between 1998 and 2014. There were altogether 12,350 weekly MEI records on 495 primiparous Nordic Red dairy cows from wk 2 to 40 of lactation. Heritability estimates for REI and MEE were moderate, 0.33 and 0.26, respectively. The estimate of the residual variance was smaller for MEE than for REI, indicating that analyzing weekly MEI observations simultaneously with energy sinks is preferable. Model validation based on Akaike's information criterion showed that pMEE models fitted the data even better and also resulted in smaller residual variance estimates. However, models that included random regression on BW 0.75 converged slowly. The resulting genetic standard deviation estimate from the pMEE coefficient for milk production was 0.75 MJ of MEI/kg of energy-corrected milk. The derived partial heritabilities for energy efficiency in maintenance, milk production, and growth were 0.02, 0.06, and 0.04, respectively, indicating that some genetic variation may exist in the efficiency of using

  18. Corrective Action Decision Document for Corrective Action Unit 204: Storage Bunkers, Nevada Test Site, Nevada

    International Nuclear Information System (INIS)

    Boehlecke, Robert

    2004-01-01

    The six bunkers included in CAU 204 were primarily used to monitor atmospheric testing or store munitions. The 'Corrective Action Investigation Plan (CAIP) for Corrective Action Unit 204: Storage Bunkers, Nevada Test Site, Nevada' (NNSA/NV, 2002a) provides information relating to the history, planning, and scope of the investigation; therefore, it will not be repeated in this CADD. This CADD identifies potential corrective action alternatives and provides a rationale for the selection of a recommended corrective action alternative for each CAS within CAU 204. The evaluation of corrective action alternatives is based on process knowledge and the results of investigative activities conducted in accordance with the CAIP (NNSA/NV, 2002a) that was approved prior to the start of the Corrective Action Investigation (CAI). Record of Technical Change (ROTC) No. 1 to the CAIP (approval pending) documents changes to the preliminary action levels (PALs) agreed to by the Nevada Division of Environmental Protection (NDEP) and DOE, National Nuclear Security Administration Nevada Site Office (NNSA/NSO). This ROTC specifically discusses the radiological PALs and their application to the findings of the CAU 204 corrective action investigation. The scope of this CADD consists of the following: (1) Develop corrective action objectives; (2) Identify corrective action alternative screening criteria; (3) Develop corrective action alternatives; (4) Perform detailed and comparative evaluations of corrective action alternatives in relation to corrective action objectives and screening criteria; and (5) Recommend and justify a preferred corrective action alternative for each CAS within CAU 204

  19. [The study of tomato fruit weight quantitative trait locus and its application in genetics teaching].

    Science.gov (United States)

    Wang, Hai-yan

    2015-08-01

    The classical research cases, which have greatly promoted the development of genetics in history, can be combined with the content of courses in genetics teaching to train students' ability of scientific thinking and genetic analysis. The localization and clone of gene controlling tomato fruit weight is a pioneer work in quantitative trait locus (QTL) studies and represents a complete process of QTL research in plants. Application of this integrated case in genetics teaching, which showed a wonderful process of scientific discovery and the fascination of genetic research, has inspired students' interest in genetics and achieved a good teaching effect.

  20. PROGRAMMED CORRECTIVE EXERCISES IN PCYSICAL EDUCATION CLASSES AND LORDOTIC BAD BODY POSITION

    Directory of Open Access Journals (Sweden)

    Zoran Bogdanović

    2008-08-01

    Full Text Available The subject matter of the research was the influence of specially program medphysical education instruction with specific complexes of exercises of corrective gymnastics at the 5th grade pupils at those with lordotic bad body position established by measuring. The aims were to define the number of children with lordotic bad body position and to eliminate or alleviate the existing disturbance until the end of the experimental programme. The experimental programme was carried out among the 5th grade pupils. Total number of pupils included in this experiment was 434. The methods that were used for the estimation of lordotic bad body position are somatoscopy and somatometry. The plumb, ruler and dermograph were necessary instruments. For the estimation of the states of bad body position, the average value of mild criterion is applied. It can be concluded that during experimental programme even 85.93% of the subjects successfully corrected their bad body position; more exactly completely corrected lordotic bad body position. That percentage is certificate of justification and necessity of application of experimental programme of corrective gymnastics with all his organizational characteristics (the setting, the scope of work, load intensity, directing and controlling the experiment. Muscular-bone system of boys shows the high level of adaptation on the applied experimental factor of corrective gymnastics.

  1. The relevance of genetic analysis to dairy bacteria: building upon our heritage

    Directory of Open Access Journals (Sweden)

    Moineau Sylvain

    2004-12-01

    Full Text Available Abstract Lactic acid bacteria (LAB are essential for the manufacture of fermented dairy products. Studies on the physiology, biochemistry and genetics of these microorganisms over the last century have contributed considerably to the improvement of fermentation processes and have resulted in better and safer products. Nevertheless, the potential of LAB is far from being maximized. The sophistication of biotechnologies and the availability of complete genome sequences have opened the door to the metabolic engineering of LAB. In this regard, the recent publication of the complete genome sequences of two Streptococcus thermophilus strains will provide a key tool to facilitate the genetic manipulation of this important dairy species.

  2. Correction of population stratification in large multi-ethnic association studies.

    Directory of Open Access Journals (Sweden)

    David Serre

    2008-01-01

    Full Text Available The vast majority of genetic risk factors for complex diseases have, taken individually, a small effect on the end phenotype. Population-based association studies therefore need very large sample sizes to detect significant differences between affected and non-affected individuals. Including thousands of affected individuals in a study requires recruitment in numerous centers, possibly from different geographic regions. Unfortunately such a recruitment strategy is likely to complicate the study design and to generate concerns regarding population stratification.We analyzed 9,751 individuals representing three main ethnic groups - Europeans, Arabs and South Asians - that had been enrolled from 154 centers involving 52 countries for a global case/control study of acute myocardial infarction. All individuals were genotyped at 103 candidate genes using 1,536 SNPs selected with a tagging strategy that captures most of the genetic diversity in different populations. We show that relying solely on self-reported ethnicity is not sufficient to exclude population stratification and we present additional methods to identify and correct for stratification.Our results highlight the importance of carefully addressing population stratification and of carefully "cleaning" the sample prior to analyses to obtain stronger signals of association and to avoid spurious results.

  3. Corrective Jaw Surgery

    Medline Plus

    Full Text Available ... more surgeries depending on the extent of the repair needed. Click here to find out more. Corrective ... more surgeries depending on the extent of the repair needed. Click here to find out more. Corrective ...

  4. Acupuncture phenomenon of the Qi energy complete awakening

    Directory of Open Access Journals (Sweden)

    Viktor N. Skakov

    2013-11-01

    Full Text Available Aims The aim is to study the phenomenon of the Qi energy complete awakening using the acupuncture method and the reactions appearing during this process that lead to recovery of the body and of the cardiovascular system first of all. Materials and methods The study is based on the classical acupuncture method using the unique technique of effecting the points by I-Ching. Results The result is the body recovering the pathologic diseases the patient has been suffering for decades. Conclusion The new method for acupuncture is the Qi energy complete awakening based on structuring the Qi energy in the acupoints according to the figures of gua (trigrams and hexagrams in the Chinese Canon of Changes and can be used for the treatment of almost any kind of the disease including cardiovascular. The given method allows not only balancing the Yin and Yang energy in the human body but also launching the generalized recovery program concentrated in the deepest layers of the human genetic memory. The given method allows treating many diseases considered to be incurable by the official medicine.

  5. On the convergence of zero-point vibrational corrections to nuclear shieldings and shielding anisotropies towards the complete basis set limit in water

    DEFF Research Database (Denmark)

    Faber, Rasmus; Buczek, Aneta; Kupka, Teobald

    2017-01-01

    ), coupled cluster singles and doubles (CCSD), coupled cluster singles and doubles with perturbative triples corrections (CCSD(T)) and Kohn-Sham density functional theory (DFT) with the B3LYP exchange-correlation functional methods in combination with the second order vibrational perturbation theory (VPT2...

  6. The complete mitochondrial genome of eastern lowland gorilla, Gorilla beringei graueri, and comparative mitochondrial genomics of Gorilla species.

    Science.gov (United States)

    Hu, Xiao-di; Gao, Li-zhi

    2016-01-01

    In this study, we determined the complete mitochondrial (mt) genome of eastern lowland gorilla, Gorilla beringei graueri for the first time. The total genome was 16,416 bp in length. It contained a total of 13 protein-coding genes, 22 transfer RNA genes, 2 ribosomal RNA genes and 1 control region (D-loop region). The base composition was A (30.88%), G (13.10%), C (30.89%) and T (25.13%), indicating that the percentage of A+T (56.01%) was higher than G+C (43.99%). Comparisons with the other publicly available Gorilla mitogenome showed the conservation of gene order and base compositions but a bunch of nucleotide diversity. This complete mitochondrial genome sequence will provide valuable genetic information for further studies on conservation genetics of eastern lowland gorilla.

  7. Corrective Jaw Surgery

    Medline Plus

    Full Text Available ... Jaw Surgery Download Download the ebook for further information Corrective jaw, or orthognathic surgery is performed by ... your treatment. Correction of Common Dentofacial Deformities ​ ​ The information provided here is not intended as a substitute ...

  8. Evolving perspectives on genetic discrimination in health insurance among health care providers.

    Science.gov (United States)

    Huizenga, Carin R; Lowstuter, Katrina; Banks, Kimberly C; Lagos, Veronica I; Vandergon, Virginia O; Weitzel, Jeffrey N

    2010-06-01

    Previous studies have documented that concerns about genetic discrimination (GD) may influence access to and participation in medically necessary care. We sought to characterize how GD issues influence current cancer genetics professional (CGP) practice, determine if their attitudes regarding GD have changed over time, and compare their knowledge and attitudes regarding laws prohibiting GD to a contemporary cohort of non-genetics clinicians. Members of the National Society of Genetic Counselors Familial Cancer Special Interest Group were invited to complete a 39 item online survey, adapted from previously published instruments. The resulting data were compared to a survey of CGPs published in 2000 and to a contemporary cohort of non-genetics clinicians (n = 1,181). There were 153 qualified respondents. Compared to the historical CGP cohort (n = 163), a significantly greater proportion said they would bill insurance for the cost of genetic testing for themselves (P genetics clinicians (P genetics clinicians. Better knowledge of GD and protective legislation, may facilitate non-genetics clinician utilization of genetics and personalized medicine.

  9. An application of the baseline correction technique for correcting distorted seismic acceleration time histories

    International Nuclear Information System (INIS)

    Lee, Gyu Mahn; Kim, Jong Wook; Jeoung, Kyeong Hoon; Kim, Tae Wan; Park, Keun Bae; Kim, Keung Koo

    2008-03-01

    Three kinds of baseline correction techniques named as 'Newmark', 'Zero-VD' and 'Newmark and Zero-VD' were introduced to correct the distorted physical characteristics of a seismic time history accelogram. The corrected seismic accelerations and distorted raw acceleration showed an identical response spectra in frequency domains, but showed various time history profiles in velocity and displacement domains. The referred correction techniques were programmed with UNIX-HP Fortran. The verification of the baseline corrected seismic data in terms of frequency response spectrum were performed by ANSYS of a commerical FEM software

  10. Defining the "Correct Form": Using Biomechanics to Develop Reliable and Valid Assessment Instruments

    Science.gov (United States)

    Satern, Miriam N.

    2011-01-01

    Physical educators should be able to define the "correct form" they expect to see each student performing in their classes. Moreover, they should be able to go beyond assessing students' skill levels by measuring the outcomes (products) of movements (i.e., how far they throw the ball or how many successful attempts are completed) or counting the…

  11. The efficacy of a standardized questionnaire in facilitating personalized communication about problems encountered in cancer genetic counseling: design of a randomized controlled trial.

    Science.gov (United States)

    Eijzenga, Willem; Aaronson, Neil K; Kluijt, Irma; Sidharta, Grace N; Hahn, Daniela Ee; Ausems, Margreet Gem; Bleiker, Eveline Ma

    2014-01-15

    Individuals with a personal or family history of cancer, can opt for genetic counseling and DNA-testing. Approximately 25% of these individuals experience clinically relevant levels of psychosocial distress, depression and/or anxiety after counseling. These problems are frequently left undetected by genetic counselors. The aim of this study is to evaluate the efficacy of a cancer genetics-specific screening questionnaire for psychosocial problems, the 'Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire' together with the Distress Thermometer, in: (1) facilitating personalized counselor-counselee communication; (2) increasing counselors' awareness of their counselees' psychosocial problems; and (3) facilitating the management of psychosocial problems during and after genetic counseling. This multicenter, randomized controlled trial will include 264 individuals undergoing cancer genetic counseling in two family cancer clinics in the Netherlands. Participants will be randomized to either: (1) an intervention group that completes the PAHC questionnaire, the results of which are made available to the genetic counselor prior to the counseling session; or (2) a control group that completes the PAHC questionnaire, but without feedback being given to the genetic counselor. The genetic counseling sessions will be audiotaped for content analysis. Additionally, study participants will be asked to complete questionnaires at baseline, three weeks after the initial counseling session, and four months after a telephone follow-up counseling session. The genetic counselors will be asked to complete questionnaires at the start of and at completion of the study, as well as a checklist directly after each counseling session. The questionnaires/checklists of the study include items on communication during genetic counseling, counselor awareness of their clients' psychosocial problems, the (perceived) need for professional psychosocial support, cancer worries, general

  12. Population genetic diversity and hybrid detection in captive zebras.

    Science.gov (United States)

    Ito, Hideyuki; Langenhorst, Tanya; Ogden, Rob; Inoue-Murayama, Miho

    2015-08-21

    Zebras are members of the horse family. There are three species of zebras: the plains zebra Equus quagga, the Grevy's zebra E. grevyi and the mountain zebra E. zebra. The Grevy's zebra and the mountain zebra are endangered, and hybridization between the Grevy's zebra and the plains zebra has been documented, leading to a requirement for conservation genetic management within and between the species. We characterized 28 microsatellite markers in Grevy's zebra and assessed cross-amplification in plains zebra and two of its subspecies, as well as mountain zebra. A range of standard indices were employed to examine population genetic diversity and hybrid populations between Grevy's and plains zebra were simulated to investigate subspecies and hybrid detection. Microsatellite marker polymorphism was conserved across species with sufficient variation to enable individual identification in all populations. Comparative diversity estimates indicated greater genetic variation in plains zebra and its subspecies than Grevy's zebra, despite potential ascertainment bias. Species and subspecies differentiation were clearly demonstrated and F1 and F2 hybrids were correctly identified. These findings provide insights into captive population genetic diversity in zebras and support the use of these markers for identifying hybrids, including the known hybrid issue in the endangered Grevy's zebra.

  13. Supersymmetric electroweak radiative corrections to e+e-→W+W-. III

    International Nuclear Information System (INIS)

    Alam, S.

    1994-01-01

    This is the third of a series of three papers in which we give a complete analysis of one loop quantum corrections to the W pair production in the context of supersymmetric electroweak theory. We adopt the on-shell-mass subtraction scheme of Sakakibara. In this paper we concentrate mainly on the one loop corrections to the differential cross section arising from the box diagrams. Details of the relevant analytic results are given. We also present our results for the total radiative corrections and wherever possible compare the QFD part of our calculation with previous work. We find a change of approximately 3%--4% in the differential cross section if the Higgs boson mass is varied from 10 GeV to 500 GeV. The differential cross section varies approximately 8% if the top mass is varied between 40 GeV and 150 GeV. Our results for the dependence of the differential cross section on the Higgs boson and top quark are in agreement with Bohm et al. In the context of the SM we find moderate corrections at CERN LEP II energies. We find the percentage (with respect to the tree-level) virtual loop corrections arising from the box diagrams (considered in this paper) due to the addition of SUSY particles varies approximately from 0.18% to -5.67%. As a comparison the percentage virtual corrections due to the box diagrams in the SM varies typically from 0.89% to 8.3%. The SM total percentage virtual loop corrections varies typically from 17.4% to 19%. The above comparison is made at the same center-of-mass energy (200 GeV). The first percentage in this comparison is for center-of-mass angles of 10 degree, the second being at 90 degree. Adding all the corrections up we find that the addition of the supersymmetric particles tends to increase the percentage one loop corrections on the order of 6%--8% provided the photino is kept light. With an accurate measurement at LEP II, one can in principle detect such a deviation away from the standard model

  14. Completeness and consistency in recording information in the tuberculosis case register, Cambodia, China and Viet Nam.

    Science.gov (United States)

    Hoa, N B; Wei, C; Sokun, C; Lauritsen, J M; Rieder, H L

    2010-10-01

    Tuberculosis (TB) case registers in Cambodia, two provinces in China and in Viet Nam. To determine completeness and consistency of information for quarterly reports on case finding and treatment outcome. A representative sample of TB case registers was selected in Cambodia, in two provinces in China and in Viet Nam. Quarterly reports were reproduced from double-entered, validated data to determine completeness and consistency. The dataset comprised 37,635 patient records in 2 calendar years. Only 0.2%, 3.6% and 1.1% of cases, respectively, in Cambodia, the two China provinces, and Viet Nam did not allow classification for the quarterly report on case finding. If the treatment outcome was reported as cured, it was correct in 99.9%, 85.7%, and 98.5% of the respective three jurisdictions: errors were mostly due to misclassification of completion as cure. Under-reporting of failures was more frequent than over-reporting in Cambodia and Viet Nam, while in the two provinces in China 84% of reported failures did not actually meet the bacteriological criterion. This evaluation demonstrates that recording essential information is exemplary in all three countries. It will be essential to carefully supervise the ability of staff to correctly define TB treatment outcome results in all three countries.

  15. Corrective Action Decision Document/Closure Report for Corrective Action Unit 375: Area 30 Buggy Unit Craters, Nevada National Security Site, Nevada, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Patrick Matthews

    2011-08-01

    consisted of removing the PSM. Use restrictions and warning signs were implemented for the remaining radiological contamination at CASs 25-23-22 and 30-45-01. These use restrictions were recorded in the FFACO database; the U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office (NNSA/NSO) Facility Information Management System; and the NNSA/NSO CAU/CAS files. Therefore, NNSA/NSO provides the following recommendations: (1) No further corrective actions are necessary for CAU 375; (2) A Notice of Completion to NNSA/NSO is requested from the Nevada Division of Environmental Protection for closure of CAU 375; and (3) Move CAU 375 from Appendix III to Appendix IV of the FFACO.

  16. Hyperkalemia-induced complete heart block

    Directory of Open Access Journals (Sweden)

    Alireza Baratloo

    2015-05-01

    Full Text Available Background: Potassium, as an extracellular ion, plays an important role in the electrophysiologic function of the myocardium and any change in extracellular concentration of this ion might have a marked impression upon myocyte electrophysiologic gain. High serum potassium levels are thought to impair pulse conduction in Purkinje fibers and ventricles more than that in the Atrioventricular (AV node. Therefore, although complete AV block can occur, it is a rare initial presentation. Case Report: We describe a 62-year-old man with a history of diabetes mellitus, ischemic heart disease and previous Coronary Artery Bypass Graft (CABG, who came to our emergency department due to generalized weakness starting 2 days before admission. The patient also had decreased force in lower limbs, exacerbating from the morning, and was finally diagnosed as a hyperkalemia-induced Complete Heart Block (CHB. It should also be noted that the patient responded dramatically to the administration of 10 mL of 10% calcium gluconate along with external pacing until potassium level correction became effective. Conclusion: In spite of the fact that Hyperkalemia can be associated with frequent Electrocardiogram (ECG abnormality, advanced heart blocks (second- and third-degree AV blocks are usually found only in patients with pre-existing heart failure, conduction abnormalities, or other cardiac diseases. Institution of effective treatment rapidly and forgiveness of traditional non-effective, time consumptive and sometimes risking full-adjustment modalities, such as sodium bicarbonate infusion or exchange resins that prevent their use in the emergent phase, can help minimize patient morbidity and mortality.

  17. $ANBA; a rapid, combined data acquisition and correction program for the SEMQ electron microprobe

    Science.gov (United States)

    McGee, James J.

    1983-01-01

    $ANBA is a program developed for rapid data acquisition and correction on an automated SEMQ electron microprobe. The program provides increased analytical speed and reduced disk read/write operations compared with the manufacturer's software, resulting in a doubling of analytical throughput. In addition, the program provides enhanced analytical features such as averaging, rapid and compact data storage, and on-line plotting. The program is described with design philosophy, flow charts, variable names, a complete program listing, and system requirements. A complete operating example and notes to assist in running the program are included.

  18. An Interpretation of Part of Gilbert Gottlieb's Legacy: Developmental Systems Theory Contra Developmental Behavior Genetics

    Science.gov (United States)

    Molenaar, Peter C. M.

    2015-01-01

    The main theme of this paper concerns the persistent critique of Gilbert Gottlieb on developmental behavior genetics and my reactions to this critique, the latter changing from rejection to complete acceptation. Concise characterizations of developmental behavior genetics, developmental systems theory (to which Gottlieb made essential…

  19. Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994

    DEFF Research Database (Denmark)

    Jelenkovic, Aline; Hur, Yoon-Mi; Sund, Reijo

    2016-01-01

    Human height variation is determined by genetic and environmental factors, but it remains unclear whether their influences differ across birth-year cohorts. We conducted an individual-based pooled analysis of 40 twin cohorts including 143,390 complete twin pairs born 1886-1994. Although genetic...

  20. Comparison of fluorescence rejection methods of baseline correction and shifted excitation Raman difference spectroscopy

    Science.gov (United States)

    Cai, Zhijian; Zou, Wenlong; Wu, Jianhong

    2017-10-01

    Raman spectroscopy has been extensively used in biochemical tests, explosive detection, food additive and environmental pollutants. However, fluorescence disturbance brings a big trouble to the applications of portable Raman spectrometer. Currently, baseline correction and shifted-excitation Raman difference spectroscopy (SERDS) methods are the most prevailing fluorescence suppressing methods. In this paper, we compared the performances of baseline correction and SERDS methods, experimentally and simulatively. Through the comparison, it demonstrates that the baseline correction can get acceptable fluorescence-removed Raman spectrum if the original Raman signal has good signal-to-noise ratio, but it cannot recover the small Raman signals out of large noise background. By using SERDS method, the Raman signals, even very weak compared to fluorescence intensity and noise level, can be clearly extracted, and the fluorescence background can be completely rejected. The Raman spectrum recovered by SERDS has good signal to noise ratio. It's proved that baseline correction is more suitable for large bench-top Raman system with better quality or signal-to-noise ratio, while the SERDS method is more suitable for noisy devices, especially the portable Raman spectrometers.

  1. Quantum corrections to the inflaton potential and the power spectra from superhorizon modes and trace anomalies

    International Nuclear Information System (INIS)

    Boyanovsky, D.; Vega, H.J. de; Sanchez, N.G.

    2005-01-01

    We obtain the effective inflaton potential during slow-roll inflation by including the one-loop quantum corrections to the energy momentum tensor from scalar curvature and tensor perturbations as well as from light scalars and Dirac fermions coupled to the inflaton. During slow-roll inflation there is an unambiguous separation between super- and subhorizon contributions to the energy momentum tensor. The superhorizon part is determined by the curvature perturbations and scalar field fluctuations: both feature infrared enhancements as the inverse of a combination of slow-roll parameters which measure the departure from scale invariance in each case. Fermions and gravitons do not exhibit infrared divergences. The subhorizon part is completely specified by the trace anomaly of the fields with different spins and is solely determined by the space-time geometry. The one-loop corrections to the amplitude of curvature and tensor perturbations are obtained to leading order in slow roll and in the (H/M Pl ) 2 expansion. A complete assessment of the backreaction problem up to one loop including bosons and fermions is provided. The result validates the effective field theory description of inflation and confirms the robustness of the inflationary paradigm to quantum fluctuations. Quantum corrections to the power spectra are expressed in terms of the CMB observables: n s , r and dn s /dlnk. Trace anomalies (especially the graviton part) dominate these quantum corrections in a definite direction: they enhance the scalar curvature fluctuations and reduce the tensor fluctuations

  2. Electroweak corrections to charged-current e+e-->4 fermion processes: Technical details and further results

    International Nuclear Information System (INIS)

    Denner, A.; Dittmaier, S.; Roth, M.; Wieders, L.H.

    2005-01-01

    The complete electroweak O(α) corrections have been calculated for the charged-current four-fermion production processes e + e - ->ν τ τ + μ - ν-bar μ , ud-bar μ - ν-bar μ , and ud-bar sc-bar . Here, technical details of this calculation are presented. These include the algebraic reduction of spinor chains to a few standard structures and the consistent implementation of the finite width of the W boson. To this end, a generalization of the complex-mass scheme to the one-loop level is proposed, and the practical application of this method is described. Finally, the effects of the complete O(α) corrections to various differential cross sections of physical interest are discussed and compared to predictions based on the double-pole approximation, revealing that the latter approximation is not sufficient to fully exploit the potential of a future linear collider in an analysis of W-boson pairs at high energies

  3. Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells

    Directory of Open Access Journals (Sweden)

    Xiaohong Xu

    2017-03-01

    Full Text Available Huntington disease (HD is a dominant neurodegenerative disorder caused by a CAG repeat expansion in HTT. Here we report correction of HD human induced pluripotent stem cells (hiPSCs using a CRISPR-Cas9 and piggyBac transposon-based approach. We show that both HD and corrected isogenic hiPSCs can be differentiated into excitable, synaptically active forebrain neurons. We further demonstrate that phenotypic abnormalities in HD hiPSC-derived neural cells, including impaired neural rosette formation, increased susceptibility to growth factor withdrawal, and deficits in mitochondrial respiration, are rescued in isogenic controls. Importantly, using genome-wide expression analysis, we show that a number of apparent gene expression differences detected between HD and non-related healthy control lines are absent between HD and corrected lines, suggesting that these differences are likely related to genetic background rather than HD-specific effects. Our study demonstrates correction of HD hiPSCs and associated phenotypic abnormalities, and the importance of isogenic controls for disease modeling using hiPSCs.

  4. Completion Report for the Well ER-6-2 Site Corrective Action Unit 97: Yucca Flat - Climax Mine

    International Nuclear Information System (INIS)

    2008-01-01

    Well ER-6-2 and its satellite hole, Well ER-6-2 No.1, were drilled for the U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office in support of the Nevada Environmental Restoration Project at the Nevada Test Site, Nye County, Nevada. Well ER-6-2 was drilled in two stages in 1993 and 1994; the satellite hole, Well ER-6-2 No.1 was drilled nearby in 1993 but was abandoned. The wells were drilled as part of a hydrogeologic investigation program for the Yucca Flat-Climax Mine Corrective Action Unit Number 97, in the northeastern portion of the Nevada Test Site. The wells are located in Yucca Flat, within Area 6 of the Nevada Test Site. The wells provided information regarding the radiological and hydrogeological environment in a potentially down-gradient position from tests conducted in northern and central Yucca Flat. Construction of Well ER-6-2 began with a 1.2-meter-diameter surface conductor hole, which was drilled and cased off to a depth of 30.8 meters below the surface. A 50.8-centimeter diameter surface hole was then rotary drilled to the depth of 578.5 meters and cased off to the depth of 530.4 meters. The hole diameter was then reduced to 27.0 centimeters, and the borehole was advanced to a temporary depth of 611.4 meters. The borehole was conventionally cored to a total depth of 1,045 meters with a diameter of 14.0 centimeters. Borehole sloughing required cementing and re-drilling of several zones. The open-hole completion accesses the lower carbonate aquifer, the CP thrust fault, and the upper clastic confining unit. A fluid level depth of 543.2 meters was most recently measured in the open borehole in September 2007. No radionuclides were encountered during drilling. The satellite hole Well ER-6-2 No.1 was drilled approximately 15.2 meters north of Well ER-6-2 on the same drill pad. This was planned to be used as an observation well during future hydrologic testing at Well ER-6-2; however, the satellite hole was abandoned at

  5. Stray light correction on array spectroradiometers for optical radiation risk assessment in the workplace

    International Nuclear Information System (INIS)

    Barlier-Salsi, A

    2014-01-01

    The European directive 2006/25/EC requires the employer to assess and, if necessary, measure the levels of exposure to optical radiation in the workplace. Array spectroradiometers can measure optical radiation from various types of sources; however poor stray light rejection affects their accuracy. A stray light correction matrix, using a tunable laser, was developed at the National Institute of Standards and Technology (NIST). As tunable lasers are very expensive, the purpose of this study was to implement this method using only nine low power lasers; other elements of the correction matrix being completed by interpolation and extrapolation. The correction efficiency was evaluated by comparing CCD spectroradiometers with and without correction and a scanning double monochromator device as reference. Similar to findings recorded by NIST, these experiments show that it is possible to reduce the spectral stray light by one or two orders of magnitude. In terms of workplace risk assessment, this spectral stray light correction method helps determine exposure levels, with an acceptable degree of uncertainty, for the majority of workplace situations. The level of uncertainty depends upon the model of spectroradiometers used; the best results are obtained with CCD detectors having an enhanced spectral sensitivity in the UV range. Thus corrected spectroradiometers require a validation against a scanning double monochromator spectroradiometer before using them for risk assessment in the workplace. (paper)

  6. Stray light correction on array spectroradiometers for optical radiation risk assessment in the workplace.

    Science.gov (United States)

    Barlier-Salsi, A

    2014-12-01

    The European directive 2006/25/EC requires the employer to assess and, if necessary, measure the levels of exposure to optical radiation in the workplace. Array spectroradiometers can measure optical radiation from various types of sources; however poor stray light rejection affects their accuracy. A stray light correction matrix, using a tunable laser, was developed at the National Institute of Standards and Technology (NIST). As tunable lasers are very expensive, the purpose of this study was to implement this method using only nine low power lasers; other elements of the correction matrix being completed by interpolation and extrapolation. The correction efficiency was evaluated by comparing CCD spectroradiometers with and without correction and a scanning double monochromator device as reference. Similar to findings recorded by NIST, these experiments show that it is possible to reduce the spectral stray light by one or two orders of magnitude. In terms of workplace risk assessment, this spectral stray light correction method helps determine exposure levels, with an acceptable degree of uncertainty, for the majority of workplace situations. The level of uncertainty depends upon the model of spectroradiometers used; the best results are obtained with CCD detectors having an enhanced spectral sensitivity in the UV range. Thus corrected spectroradiometers require a validation against a scanning double monochromator spectroradiometer before using them for risk assessment in the workplace.

  7. SELF CORRECTION WORKS BETTER THAN TEACHER CORRECTION IN EFL SETTING

    Directory of Open Access Journals (Sweden)

    Azizollah Dabaghi

    2012-11-01

    Full Text Available Learning a foreign language takes place step by step, during which mistakes are to be expected in all stages of learning. EFL learners are usually afraid of making mistakes which prevents them from being receptive and responsive. Overcoming fear of mistakes depends on the way mistakes are rectified. It is believed that autonomy and learner-centeredness suggest that in some settings learner's self-correction of mistakes might be more beneficial for language learning than teacher's correction. This assumption has been the subject of debates for some time. Some researchers believe that correction whether that of teacher's or on behalf of learners is effective in showing them how their current interlanguage differs from the target (Long &Robinson, 1998. Others suggest that correcting the students whether directly or through recasts are ambiguous and may be perceived by the learner as confirmation of meaning rather than feedback on form (Lyster, 1998a. This study is intended to investigate the effects of correction on Iranian intermediate EFL learners' writing composition in Payam Noor University. For this purpose, 90 English majoring students, studying at Isfahan Payam Noor University were invited to participate at the experiment. They all received a sample of TOFEL test and a total number of 60 participants whose scores were within the range of one standard deviation below and above the mean were divided into two equal groups; experimental and control. The experimental group went through some correction during the experiment while the control group remained intact and the ordinary processes of teaching went on. Each group received twelve sessions of two hour classes every week on advanced writing course in which some activities of Modern English (II were selected. Then after the treatment both groups received an immediate test as post-test and the experimental group took the second post-test as the delayed recall test with the same design as the

  8. Electromagnetic corrections to baryon masses

    International Nuclear Information System (INIS)

    Durand, Loyal; Ha, Phuoc

    2005-01-01

    We analyze the electromagnetic contributions to the octet and decuplet baryon masses using the heavy-baryon approximation in chiral effective field theory and methods we developed in earlier analyses of the baryon masses and magnetic moments. Our methods connect simply to Morpurgo's general parametrization of the electromagnetic contributions and to semirelativistic quark models. Our calculations are carried out including the one-loop mesonic corrections to the basic electromagnetic interactions, so to two loops overall. We find that to this order in the chiral loop expansion there are no three-body contributions. The Coleman-Glashow relation and other sum rules derived in quark models with only two-body terms therefore continue to hold, and violations involve at least three-loop processes and can be expected to be quite small. We present the complete formal results and some estimates of the matrix elements here. Numerical calculations will be presented separately

  9. Inferring genetic interactions from comparative fitness data.

    Science.gov (United States)

    Crona, Kristina; Gavryushkin, Alex; Greene, Devin; Beerenwinkel, Niko

    2017-12-20

    Darwinian fitness is a central concept in evolutionary biology. In practice, however, it is hardly possible to measure fitness for all genotypes in a natural population. Here, we present quantitative tools to make inferences about epistatic gene interactions when the fitness landscape is only incompletely determined due to imprecise measurements or missing observations. We demonstrate that genetic interactions can often be inferred from fitness rank orders, where all genotypes are ordered according to fitness, and even from partial fitness orders. We provide a complete characterization of rank orders that imply higher order epistasis. Our theory applies to all common types of gene interactions and facilitates comprehensive investigations of diverse genetic interactions. We analyzed various genetic systems comprising HIV-1, the malaria-causing parasite Plasmodium vivax , the fungus Aspergillus niger , and the TEM-family of β-lactamase associated with antibiotic resistance. For all systems, our approach revealed higher order interactions among mutations.

  10. Considering genetic characteristics in German Holstein breeding programs.

    Science.gov (United States)

    Segelke, D; Täubert, H; Reinhardt, F; Thaller, G

    2016-01-01

    found a decrease of the genetic trend for the birth years 1990 to 2006. Since 2010 the genetic index has increased due to a strong increase in the polled frequency. However, further investigation is needed to better understand the biology to determine the correct time of embryo loss and the economic value of fertility disorders. Copyright © 2016 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  11. A 3D inversion for all-space magnetotelluric data with static shift correction

    Science.gov (United States)

    Zhang, Kun

    2017-04-01

    Base on the previous studies on the static shift correction and 3D inversion algorithms, we improve the NLCG 3D inversion method and propose a new static shift correction method which work in the inversion. The static shift correction method is based on the 3D theory and real data. The static shift can be detected by the quantitative analysis of apparent parameters (apparent resistivity and impedance phase) of MT in high frequency range, and completed correction with inversion. The method is an automatic processing technology of computer with 0 cost, and avoids the additional field work and indoor processing with good results. The 3D inversion algorithm is improved (Zhang et al., 2013) base on the NLCG method of Newman & Alumbaugh (2000) and Rodi & Mackie (2001). For the algorithm, we added the parallel structure, improved the computational efficiency, reduced the memory of computer and added the topographic and marine factors. So the 3D inversion could work in general PC with high efficiency and accuracy. And all the MT data of surface stations, seabed stations and underground stations can be used in the inversion algorithm.

  12. Requirements for qualification of manufacture of the ITER Central Solenoid and Correction Coils

    Energy Technology Data Exchange (ETDEWEB)

    Libeyre, Paul, E-mail: paul.libeyre@iter.org [ITER Organization, Route de Vinon sur Verdon, 13115 St Paul lez Durance (France); Li, Hongwei [ITER China, 15B Fuxing Road, Beijing 100862 (China); Reiersen, Wayne [US ITER Project Office, 1055 Commerce Park Dr., Oak Ridge, TN 37831 (United States); Dolgetta, Nello; Jong, Cornelis; Lyraud, Charles; Mitchell, Neil; Laurenti, Adamo [ITER Organization, Route de Vinon sur Verdon, 13115 St Paul lez Durance (France); Sgobba, Stefano [CERN, CH-1211 Genève 23 (Switzerland); Turck, Bernard [ITER Organization, Route de Vinon sur Verdon, 13115 St Paul lez Durance (France); Martovetsky, Nicolai; Everitt, David; Freudenberg, K.; Litherland, Steve; Rosenblad, Peter [US ITER Project Office, 1055 Commerce Park Dr., Oak Ridge, TN 37831 (United States); Smith, John; Spitzer, Jeff [General Atomics, P.O. Box 85608, San Diego, CA 92186-5608 (United States); Wei, Jing; Dong, Xiaoyu; Fang, Chao [ASIPP, Shushan Hu Road 350, Hefei, Anhui 230031 (China); and others

    2015-10-15

    Highlights: • A manufacturing line is installed for the ITER Correction Coils. • A manufacturing line is under installation for the ITER Central Solenoid. • Qualification of the manufacturing procedures has started for both manufacturing lines and acceptance criteria set. • Winding procedure of Correction Coils is qualified. - Abstract: The manufacturing line of the ITER Correction Coils (CC) at ASIPP in Hefei (China) was completed in 2013 and the manufacturing line of the ITER Central Solenoid (CS) modules is under installation at General Atomic premises in Poway (USA). In both cases, before starting production of the first coils, qualification of the manufacturing procedures is achieved by the construction of a set of mock-ups and prototypes to demonstrate that design requirements defined by the ITER Organization are effectively met. For each qualification item, the corresponding mock-ups are presented with the tests to be performed and the related acceptance criteria. The first qualification results are discussed.

  13. Concatenated image completion via tensor augmentation and completion

    OpenAIRE

    Bengua, Johann A.; Tuan, Hoang D.; Phien, Ho N.; Do, Minh N.

    2016-01-01

    This paper proposes a novel framework called concatenated image completion via tensor augmentation and completion (ICTAC), which recovers missing entries of color images with high accuracy. Typical images are second- or third-order tensors (2D/3D) depending if they are grayscale or color, hence tensor completion algorithms are ideal for their recovery. The proposed framework performs image completion by concatenating copies of a single image that has missing entries into a third-order tensor,...

  14. "None of the above" as a correct and incorrect alternative on a multiple-choice test: implications for the testing effect.

    Science.gov (United States)

    Odegard, Timothy N; Koen, Joshua D

    2007-11-01

    Both positive and negative testing effects have been demonstrated with a variety of materials and paradigms (Roediger & Karpicke, 2006b). The present series of experiments replicate and extend the research of Roediger and Marsh (2005) with the addition of a "none-of-the-above" response option. Participants (n=32 in both experiments) read a set of passages, took an initial multiple-choice test, completed a filler task, and then completed a final cued-recall test (Experiment 1) or multiple-choice test (Experiment 2). Questions were manipulated on the initial multiple-choice test by adding a "none-of-the-above" response alternative (choice "E") that was incorrect ("E" Incorrect) or correct ("E" Correct). The results from both experiments demonstrated that the positive testing effect was negated when the "none-of-the-above" alternative was the correct response on the initial multiple-choice test, but was still present when the "none-of-the-above" alternative was an incorrect response.

  15. Scale-invariant instantons and the complete lifetime of the standard model

    Science.gov (United States)

    Andreassen, Anders; Frost, William; Schwartz, Matthew D.

    2018-03-01

    In a classically scale-invariant quantum field theory, tunneling rates are infrared divergent due to the existence of instantons of any size. While one expects such divergences to be resolved by quantum effects, it has been unclear how higher-loop corrections can resolve a problem appearing already at one loop. With a careful power counting, we uncover a series of loop contributions that dominate over the one-loop result and sum all the necessary terms. We also clarify previously incomplete treatments of related issues pertaining to global symmetries, gauge fixing, and finite mass effects. In addition, we produce exact closed-form solutions for the functional determinants over scalars, fermions, and vector bosons around the scale-invariant bounce, demonstrating manifest gauge invariance in the vector case. With these problems solved, we produce the first complete calculation of the lifetime of our Universe: 1 0139 years . With 95% confidence, we expect our Universe to last more than 1 058 years . The uncertainty is part experimental uncertainty on the top quark mass and on αs and part theory uncertainty from electroweak threshold corrections. Using our complete result, we provide phase diagrams in the mt/mh and the mt/αs planes, with uncertainty bands. To rule out absolute stability to 3 σ confidence, the uncertainty on the top quark pole mass would have to be pushed below 250 MeV or the uncertainty on αs(mZ) pushed below 0.00025.

  16. Corrective Action Decision Document/Closure Report for Corrective Action Unit 372: Area 20 Cabriolet/Palanquin Unit Craters, Nevada National Security Site, Nevada, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Matthews, Patrick and Sloop, Christy

    2011-04-01

    contamination areas and within the craters at Palanquin and Cabriolet exceed the FAL. It is also assumed that potential source material in the form of lead bricks at Little Feller I and lead-acid batteries at Palanquin and Cabriolet exceed the FAL. Therefore, corrective actions were undertaken that consist of removing potential source material, where present, and implementing a use restriction and posting warning signs at each CAS. These use restrictions were recorded in the FFACO database; the U.S. Department of Energy, National Nuclear Security Administration Nevada Site Office (NNSA/NSO) Facility Information Management System; and the NNSA/NSO CAU/CAS files. Therefore, NNSA/NSO provides the following recommendations: • No further corrective actions are necessary for CAU 372. • A Notice of Completion to NNSA/NSO is requested from the Nevada Division of Environmental Protection for closure of CAU 372. • Corrective Action Unit 372 should be moved from Appendix III to Appendix IV of the FFACO.

  17. Genetics problem solving and worldview

    Science.gov (United States)

    Dale, Esther

    The research goal was to determine whether worldview relates to traditional and real-world genetics problem solving. Traditionally, scientific literacy emphasized content knowledge alone because it was sufficient to solve traditional problems. The contemporary definition of scientific literacy is, "The knowledge and understanding of scientific concepts and processes required for personal decision-making, participation in civic and cultural affairs and economic productivity" (NRC, 1996). An expanded definition of scientific literacy is needed to solve socioscientific issues (SSI), complex social issues with conceptual, procedural, or technological associations with science. Teaching content knowledge alone assumes that students will find the scientific explanation of a phenomenon to be superior to a non-science explanation. Formal science and everyday ways of thinking about science are two different cultures (Palmer, 1999). Students address this rift with cognitive apartheid, the boxing away of science knowledge from other types of knowledge (Jedege & Aikenhead, 1999). By addressing worldview, cognitive apartheid may decrease and scientific literacy may increase. Introductory biology students at the University of Minnesota during fall semester 2005 completed a written questionnaire-including a genetics content-knowledge test, four genetic dilemmas, the Worldview Assessment Instrument (WAI) and some items about demographics and religiosity. Six students responded to the interview protocol. Based on statistical analysis and interview data, this study concluded the following: (1) Worldview, in the form of metaphysics, relates to solving traditional genetic dilemmas. (2) Worldview, in the form of agency, relates to solving traditional genetics problems. (3) Thus, worldview must be addressed in curriculum, instruction, and assessment.

  18. Imaging-Genetics in Dyslexia: Connecting risk genetic variants to brain neuroimaging and ultimately to reading impairments

    Science.gov (United States)

    Eicher, John D.; Gruen, Jeffrey R.

    2013-01-01

    Dyslexia is a common pediatric disorder that affects 5-17% of schoolchildren in the United States. It is marked by unexpected difficulties in fluent reading despite adequate intelligence, opportunity, and instruction. Classically, neuropsychologists have studied dyslexia using a variety of neurocognitive batteries to gain insight into the specific deficits and impairments in affected children. Since dyslexia is a complex genetic trait with high heritability, analyses conditioned on performance on these neurocognitive batteries have been used to try to identify associated genes. This has led to some successes in identifying contributing genes, although much of the heritability remains unexplained. Additionally, the lack of relevant human brain tissue for analysis and the challenges of modeling a uniquely human trait in animals are barriers to advancing our knowledge of the underlying pathophysiology. In vivo imaging technologies, however, present new opportunities to examine dyslexia and reading skills in a clearly relevant context in human subjects. Recent investigations have started to integrate these imaging data with genetic data in attempts to gain a more complete and complex understanding of reading processes. In addition to bridging the gap from genetic risk variant to a discernible neuroimaging phenotype and ultimately to the clinical impairments in reading performance, the use of neuroimaging phenotypes will reveal novel risk genes and variants. In this article, we briefly discuss the genetic and imaging investigations and take an in-depth look at the recent imaging-genetics investigations of dyslexia. PMID:23916419

  19. Genetic Algorithm Phase Retrieval for the Systematic Image-Based Optical Alignment Testbed

    Science.gov (United States)

    Taylor, Jaime; Rakoczy, John; Steincamp, James

    2003-01-01

    Phase retrieval requires calculation of the real-valued phase of the pupil fimction from the image intensity distribution and characteristics of an optical system. Genetic 'algorithms were used to solve two one-dimensional phase retrieval problem. A GA successfully estimated the coefficients of a polynomial expansion of the phase when the number of coefficients was correctly specified. A GA also successfully estimated the multiple p h e s of a segmented optical system analogous to the seven-mirror Systematic Image-Based Optical Alignment (SIBOA) testbed located at NASA s Marshall Space Flight Center. The SIBOA testbed was developed to investigate phase retrieval techniques. Tiphilt and piston motions of the mirrors accomplish phase corrections. A constant phase over each mirror can be achieved by an independent tip/tilt correction: the phase Conection term can then be factored out of the Discrete Fourier Tranform (DFT), greatly reducing computations.

  20. Closure Report for Corrective Action Unit 408: Bomblet Target Area Tonopah Test Range (TTR), Nevada, Revision 0

    Energy Technology Data Exchange (ETDEWEB)

    Mark Krauss

    2010-09-01

    This Closure Report (CR) presents information supporting the closure of Corrective Action Unit (CAU) 408: Bomblet Target Area (TTR), Tonopah Test Range, Nevada. This CR complies with the requirements of the Federal Facility Agreement and Consent Order that was agreed to by the State of Nevada; U.S. Department of Energy (DOE), Environmental Management; U.S. Department of Defense; and DOE, Legacy Management. Corrective Action Unit 408 is located at the Tonopah Test Range, Nevada, and consists of Corrective Action Site (CAS) TA-55-002-TAB2, Bomblet Target Areas. This CAS includes the following seven target areas: • Mid Target • Flightline Bomblet Location • Strategic Air Command (SAC) Target Location 1 • SAC Target Location 2 • South Antelope Lake • Tomahawk Location 1 • Tomahawk Location 2 The purpose of this CR is to provide documentation supporting the completed corrective actions and data confirming that the closure objectives for the CAS within CAU 408 were met. To achieve this, the following actions were performed: • Review the current site conditions, including the concentration and extent of contamination. • Implement any corrective actions necessary to protect human health and the environment. • Properly dispose of corrective action and investigation wastes. • Document Notice of Completion and closure of CAU 408 issued by the Nevada Division of Environmental Protection. From July 2009 through August 2010, closure activities were performed as set forth in the Streamlined Approach for Environmental Restoration Plan for CAU 408: Bomblet Target Area, Tonopah Test Range (TTR), Nevada. The purposes of the activities as defined during the data quality objectives process were as follows: • Identify and remove munitions of explosive concern (MEC) associated with DOE activities. • Investigate potential disposal pit locations. • Remove depleted uranium-contaminated fragments and soil. • Determine whether contaminants of concern (COCs) are

  1. Genetic study of congenital limb anomalies among Egyptian children

    African Journals Online (AJOL)

    All cases were selected from among patients attending the outpatient medical genetics clinic, faculty of medicine, Ain-Shams university, Cairo-Egypt. Enrolled cases were subjected to a list of investigations including complete history with pedigree construction, anthropometric measurements and full clinical examination.

  2. Effectiveness of students worksheet based on mastery learning in genetics subject

    Science.gov (United States)

    Megahati, R. R. P.; Yanti, F.; Susanti, D.

    2018-05-01

    Genetics is one of the subjects that must be followed by students in Biology education department. Generally, students do not like the genetics subject because of genetics concepts difficult to understand and the unavailability of a practical students worksheet. Consequently, the complete learning process (mastery learning) is not fulfilled and low students learning outcomes. The aim of this study develops student worksheet based on mastery learning that practical in genetics subject. This research is a research and development using 4-D models. The data analysis technique used is the descriptive analysis that describes the results of the practicalities of students worksheets based on mastery learning by students and lecturer of the genetic subject. The result is the student worksheet based on mastery learning on genetics subject are to the criteria of 80,33% and 80,14%, which means that the students worksheet practical used by lecturer and students. Student’s worksheet based on mastery learning effective because it can increase the activity and student learning outcomes.

  3. Nomogram for predicting pathologically complete response after neoadjuvant chemoradiotherapy for oesophageal cancer

    International Nuclear Information System (INIS)

    Toxopeus, Eelke Lucie Anne; Nieboer, Daan; Shapiro, Joel; Biermann, Katharina; Gaast, Ate van der; Rij, Carolien M. van; Steyerberg, Ewout Willem; Lanschot, Joseph Jan Baptiste van; Wijnhoven, Bas Peter Louis

    2015-01-01

    Background: A pathologically complete response (pCR) to neoadjuvant chemoradiotherapy (nCRT) is seen in 30% of the patients with oesophageal cancer. The aim is to identify patient and tumour characteristics associated with a pCR and to develop a nomogram for the prediction of pCR. Patients and methods: Patients who underwent nCRT followed by surgery were identified and response to nCRT was assessed according to a modified Mandard classification in the resection specimen. A model was developed with age, gender, histology and location of the tumour, differentiation grade, alcohol use, smoking, percentage weight loss, Charlson Comorbidity Index (CCI), cT-stage and cN-stage as potential predictors for pCR. Probability of pCR was studied via logistic regression. Performance of the prediction nomogram was quantified using the concordance statistic (c-statistic) and corrected for optimism. Results: A total of 381 patients were included. After surgery, 27.6% of the tumours showed a pCR. Female sex, squamous cell histology, poor differentiation grade, and low cT-stage were predictive for a pCR with a c-statistic of 0.64 (corrected for optimism). Conclusion: A nomogram for the prediction of pathologically complete response after neoadjuvant chemoradiotherapy was developed, with a reasonable predictive power. This nomogram needs external validation before it can be used for individualised clinical decision-making

  4. A simple genetic incompatibility causes hybrid male sterility in mimulus.

    Science.gov (United States)

    Sweigart, Andrea L; Fishman, Lila; Willis, John H

    2006-04-01

    Much evidence has shown that postzygotic reproductive isolation (hybrid inviability or sterility) evolves by the accumulation of interlocus incompatibilities between diverging populations. Although in theory only a single pair of incompatible loci is needed to isolate species, empirical work in Drosophila has revealed that hybrid fertility problems often are highly polygenic and complex. In this article we investigate the genetic basis of hybrid sterility between two closely related species of monkeyflower, Mimulus guttatus and M. nasutus. In striking contrast to Drosophila systems, we demonstrate that nearly complete hybrid male sterility in Mimulus results from a simple genetic incompatibility between a single pair of heterospecific loci. We have genetically mapped this sterility effect: the M. guttatus allele at the hybrid male sterility 1 (hms1) locus acts dominantly in combination with recessive M. nasutus alleles at the hybrid male sterility 2 (hms2) locus to cause nearly complete hybrid male sterility. In a preliminary screen to find additional small-effect male sterility factors, we identified one additional locus that also contributes to some of the variation in hybrid male fertility. Interestingly, hms1 and hms2 also cause a significant reduction in hybrid female fertility, suggesting that sex-specific hybrid defects might share a common genetic basis. This possibility is supported by our discovery that recombination is reduced dramatically in a cross involving a parent with the hms1-hms2 incompatibility.

  5. Chromosome 15q25.1 genetic markers associated with level of response to alcohol in humans.

    Science.gov (United States)

    Joslyn, Geoff; Brush, Gerry; Robertson, Margaret; Smith, Tom L; Kalmijn, Jelger; Schuckit, Marc; White, Raymond L

    2008-12-23

    As with other genetically complex common psychiatric and medical conditions, multiple genetic and environmental components contribute to alcohol use disorders (AUDs), which can confound attempts to identify genetic components. Intermediate phenotypes are often more closely correlated with underlying biology and have often proven invaluable in genetic studies. Level of response (LR) to alcohol is an intermediate phenotype for AUDs, and individuals with a low LR are at increased risk. A high rate of concurrent alcohol and nicotine use and dependence suggests that these conditions may share biochemical and genetic mechanisms. Genetic association studies indicate that a genetic locus, which includes the CHRNA5-CHRNA3-CHRNB4 gene cluster, plays a role in nicotine consumption and dependence. Genetic association with alcohol dependence was also recently shown. We show here that two of the markers from the nicotine studies also show an association (multiple testing corrected P a sample of 367 siblings. Additional markers in the region were analyzed and shown to be located in a 250-kb expanse of high linkage disequilibrium containing three additional genes. These findings indicate that LR intermediate phenotypes have utility in genetic approaches to AUDs and will prove valuable in the identification of other genetic loci conferring susceptibility to AUDs.

  6. Genetic modification and genetic determinism

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions. PMID:16800884

  7. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  8. Non-perturbative unitarity constraints on the ratio of shear viscosity to entropy density in UV complete theories with a gravity dual

    CERN Document Server

    Brustein, Ram

    2011-01-01

    We reconsider, from a novel perspective, how unitarity constrains the corrections to the ratio of shear viscosity \\eta\\ to entropy density s. We start with higher-derivative extensions of Einstein gravity in asymptotically anti-de Sitter spacetimes. It is assumed that these theories are derived from string theory and thus have a unitary UV completion that is dual to a unitary, UV-complete boundary gauge theory. We then propose that the gravitational perturbations about a solution of the UV complete theory are described by an effective theory whose linearized equations of motion have at most two time derivatives. Our proposal leads to a concrete prescription for the calculation of \\eta/s for theories of gravity with arbitrary higher-derivative corrections. The resulting ratio can take on values above or below 1/4\\pi\\ and is consistent with all the previous calculations, even though our reasoning is substantially different. For the purpose of calculating \\eta/s, our proposal also leads to only two possible cand...

  9. Cyclic Concatenated Genetic Encoder: A mathematical proposal for biological inferences.

    Science.gov (United States)

    Duarte-González, M E; Echeverri, O Y; Guevara, J M; Palazzo, R

    2018-01-01

    The organization of the genetic information and its ability to be conserved and translated to proteins with low error rates have been the subject of study by scientists from different disciplines. Recently, it has been proposed that living organisms display an intra-cellular transmission system of genetic information, similar to a model of digital communication system, in which there is the ability to detect and correct errors. In this work, the concept of Concatenated Genetic Encoder is introduced and applied to the analysis of protein sequences as a tool for exploring evolutionary relationships. For such purposes Error Correcting Codes (ECCs) are used to represent proteins. A methodology for representing or identifying proteins by use of BCH codes over ℤ 20 and F 4 ×ℤ 5 is proposed and cytochrome b6-f complex subunit 6-OS sequences, corresponding to different plants species, are analyzed according to the proposed methodology and results are contrasted to phylogenetic and taxonomic analyses. Through the analyses, it was observed that using BCH codes only some sequences are identified, all of which differ in one amino acid from the original sequence. In addition, mathematical relationships among identified sequences are established by considering minimal polynomials, where such sequences showed a close relationship as revealed in the phylogenetic reconstruction. Results, here shown, point out that communication theory may provide biology of interesting and useful tools to identify biological relationships among proteins, however the proposed methodology needs to be improved and rigorously tested in order to become into an applicable tool for biological analysis. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. Population genetic analysis of ascertained SNP data

    Directory of Open Access Journals (Sweden)

    Nielsen Rasmus

    2004-03-01

    Full Text Available Abstract The large single nucleotide polymorphism (SNP typing projects have provided an invaluable data resource for human population geneticists. Almost all of the available SNP loci, however, have been identified through a SNP discovery protocol that will influence the allelic distributions in the sampled loci. Standard methods for population genetic analysis based on the available SNP data will, therefore, be biased. This paper discusses the effect of this ascertainment bias on allelic distributions and on methods for quantifying linkage disequilibrium and estimating demographic parameters. Several recently developed methods for correcting for the ascertainment bias will also be discussed.

  11. Genotator: A disease-agnostic tool for genetic annotation of disease

    Directory of Open Access Journals (Sweden)

    Jung Jae-Yoon

    2010-10-01

    Full Text Available Abstract Background Disease-specific genetic information has been increasing at rapid rates as a consequence of recent improvements and massive cost reductions in sequencing technologies. Numerous systems designed to capture and organize this mounting sea of genetic data have emerged, but these resources differ dramatically in their disease coverage and genetic depth. With few exceptions, researchers must manually search a variety of sites to assemble a complete set of genetic evidence for a particular disease of interest, a process that is both time-consuming and error-prone. Methods We designed a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. Our tool, called Genotator, automatically integrates data from 11 externally accessible clinical genetics resources and uses these data in a straightforward formula to rank genes in order of disease relevance. We tested the accuracy of coverage of Genotator in three separate diseases for which there exist specialty curated databases, Autism Spectrum Disorder, Parkinson's Disease, and Alzheimer Disease. Genotator is freely available at http://genotator.hms.harvard.edu. Results Genotator demonstrated that most of the 11 selected databases contain unique information about the genetic composition of disease, with 2514 genes found in only one of the 11 databases. These findings confirm that the integration of these databases provides a more complete picture than would be possible from any one database alone. Genotator successfully identified at least 75% of the top ranked genes for all three of our use cases, including a 90% concordance with the top 40 ranked candidates for Alzheimer Disease. Conclusions As a meta-query engine, Genotator provides high coverage of both historical genetic research as well as recent advances in the genetic understanding of specific diseases. As such, Genotator provides a real-time aggregation of ranked

  12. Genotator: a disease-agnostic tool for genetic annotation of disease.

    Science.gov (United States)

    Wall, Dennis P; Pivovarov, Rimma; Tong, Mark; Jung, Jae-Yoon; Fusaro, Vincent A; DeLuca, Todd F; Tonellato, Peter J

    2010-10-29

    Disease-specific genetic information has been increasing at rapid rates as a consequence of recent improvements and massive cost reductions in sequencing technologies. Numerous systems designed to capture and organize this mounting sea of genetic data have emerged, but these resources differ dramatically in their disease coverage and genetic depth. With few exceptions, researchers must manually search a variety of sites to assemble a complete set of genetic evidence for a particular disease of interest, a process that is both time-consuming and error-prone. We designed a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. Our tool, called Genotator, automatically integrates data from 11 externally accessible clinical genetics resources and uses these data in a straightforward formula to rank genes in order of disease relevance. We tested the accuracy of coverage of Genotator in three separate diseases for which there exist specialty curated databases, Autism Spectrum Disorder, Parkinson's Disease, and Alzheimer Disease. Genotator is freely available at http://genotator.hms.harvard.edu. Genotator demonstrated that most of the 11 selected databases contain unique information about the genetic composition of disease, with 2514 genes found in only one of the 11 databases. These findings confirm that the integration of these databases provides a more complete picture than would be possible from any one database alone. Genotator successfully identified at least 75% of the top ranked genes for all three of our use cases, including a 90% concordance with the top 40 ranked candidates for Alzheimer Disease. As a meta-query engine, Genotator provides high coverage of both historical genetic research as well as recent advances in the genetic understanding of specific diseases. As such, Genotator provides a real-time aggregation of ranked data that remains current with the pace of research in the disease

  13. Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration.

    Science.gov (United States)

    Burnight, Erin R; Gupta, Manav; Wiley, Luke A; Anfinson, Kristin R; Tran, Audrey; Triboulet, Robinson; Hoffmann, Jeremy M; Klaahsen, Darcey L; Andorf, Jeaneen L; Jiao, Chunhua; Sohn, Elliott H; Adur, Malavika K; Ross, Jason W; Mullins, Robert F; Daley, George Q; Schlaeger, Thorsten M; Stone, Edwin M; Tucker, Budd A

    2017-09-06

    Patient-derived induced pluripotent stem cells (iPSCs) hold great promise for autologous cell replacement. However, for many inherited diseases, treatment will likely require genetic repair pre-transplantation. Genome editing technologies are useful for this application. The purpose of this study was to develop CRISPR-Cas9-mediated genome editing strategies to target and correct the three most common types of disease-causing variants in patient-derived iPSCs: (1) exonic, (2) deep intronic, and (3) dominant gain of function. We developed a homology-directed repair strategy targeting a homozygous Alu insertion in exon 9 of male germ cell-associated kinase (MAK) and demonstrated restoration of the retinal transcript and protein in patient cells. We generated a CRISPR-Cas9-mediated non-homologous end joining (NHEJ) approach to excise a major contributor to Leber congenital amaurosis, the IVS26 cryptic-splice mutation in CEP290, and demonstrated correction of the transcript and protein in patient iPSCs. Lastly, we designed allele-specific CRISPR guides that selectively target the mutant Pro23His rhodopsin (RHO) allele, which, following delivery to both patient iPSCs in vitro and pig retina in vivo, created a frameshift and premature stop that would prevent transcription of the disease-causing variant. The strategies developed in this study will prove useful for correcting a wide range of genetic variants in genes that cause inherited retinal degeneration. Copyright © 2017 The American Society of Gene and Cell Therapy. Published by Elsevier Inc. All rights reserved.

  14. Robust Inference of Population Structure for Ancestry Prediction and Correction of Stratification in the Presence of Relatedness

    Science.gov (United States)

    Conomos, Matthew P.; Miller, Mike; Thornton, Timothy

    2016-01-01

    Population structure inference with genetic data has been motivated by a variety of applications in population genetics and genetic association studies. Several approaches have been proposed for the identification of genetic ancestry differences in samples where study participants are assumed to be unrelated, including principal components analysis (PCA), multi-dimensional scaling (MDS), and model-based methods for proportional ancestry estimation. Many genetic studies, however, include individuals with some degree of relatedness, and existing methods for inferring genetic ancestry fail in related samples. We present a method, PC-AiR, for robust population structure inference in the presence of known or cryptic relatedness. PC-AiR utilizes genome-screen data and an efficient algorithm to identify a diverse subset of unrelated individuals that is representative of all ancestries in the sample. The PC-AiR method directly performs PCA on the identified ancestry representative subset and then predicts components of variation for all remaining individuals based on genetic similarities. In simulation studies and in applications to real data from Phase III of the HapMap Project, we demonstrate that PC-AiR provides a substantial improvement over existing approaches for population structure inference in related samples. We also demonstrate significant efficiency gains, where a single axis of variation from PC-AiR provides better prediction of ancestry in a variety of structure settings than using ten (or more) components of variation from widely used PCA and MDS approaches. Finally, we illustrate that PC-AiR can provide improved population stratification correction over existing methods in genetic association studies with population structure and relatedness. PMID:25810074

  15. Genetic counselors’ implicit racial attitudes and their relationship to communication

    Science.gov (United States)

    Schaa, Kendra L; Roter, Debra L; Biesecker, Barbara B; Cooper, Lisa A; Erby, Lori H

    2015-01-01

    Objective Implicit racial attitudes are thought to shape interpersonal interactions and may contribute to health care disparities. This study explored the relationship between genetic counselors’ implicit racial attitudes and their communication during simulated genetic counseling sessions. Methods A nationally representative sample of genetic counselors completed a web-based survey that included the Race Implicit Association Test (IAT). A subset of these counselors (n=67) had participated in an earlier study in which they were video recorded counseling Black, Hispanic and non-Hispanic White simulated clients (SC) about their prenatal or cancer risks. The counselors’ IAT scores were related to their session communication through robust regression modeling. Results Genetic counselors showed a moderate to strong pro-White bias on the Race IAT (M=0.41, SD=0.35). Counselors with stronger pro-White bias were rated as displaying lower levels of positive affect (pcommunication (pcommunication in minority client sessions and may contribute to racial disparities in processes of care related to genetic services. PMID:25622081

  16. Star-formation functions and the genetics of pulsar origin

    International Nuclear Information System (INIS)

    Guseinov, O.K.; Kasumov, F.K.; Yusifov, I.M.

    1982-01-01

    The star-formation function and the genetics of pulsar origin are discussed. It is shown that the progenitors of pulsars are main-sequence stars with masses of >5M/sub sun/ for almost all the kinds of initial mass functions discussed in the literature. Pulsars are genetically connected with supernova outbursts (mainly of type II). The probability of pulsar formation as a result of ''quiet collapse'' is extremely low. Thus, the hypothesis that pulsars are formed from objects of the extreme planar component of the Galaxy is confirmed on more complete and statistically uniform material

  17. Genetic polymorphism of vitamin D receptor determines its metabolism and efficiency

    OpenAIRE

    O.A. Yakovleva; O.M. Nikolova; I.A. Doroshkevych; N.V. Shcherbeniuk

    2017-01-01

    The review represents the results of researches of vitamin D receptor characteristics and its genetic polymorphism, which is variable in different populations, and also depends on age and gender. This polymorphism determines the association of vitamin D different concentration with the probability of bronchial asthma or chronic obstructive pulmonary disease development, and therefore the different efficacy of drug correction of vitamin D deficiency. However, the scientific data are contradict...

  18. ICT: isotope correction toolbox.

    Science.gov (United States)

    Jungreuthmayer, Christian; Neubauer, Stefan; Mairinger, Teresa; Zanghellini, Jürgen; Hann, Stephan

    2016-01-01

    Isotope tracer experiments are an invaluable technique to analyze and study the metabolism of biological systems. However, isotope labeling experiments are often affected by naturally abundant isotopes especially in cases where mass spectrometric methods make use of derivatization. The correction of these additive interferences--in particular for complex isotopic systems--is numerically challenging and still an emerging field of research. When positional information is generated via collision-induced dissociation, even more complex calculations for isotopic interference correction are necessary. So far, no freely available tools can handle tandem mass spectrometry data. We present isotope correction toolbox, a program that corrects tandem mass isotopomer data from tandem mass spectrometry experiments. Isotope correction toolbox is written in the multi-platform programming language Perl and, therefore, can be used on all commonly available computer platforms. Source code and documentation can be freely obtained under the Artistic License or the GNU General Public License from: https://github.com/jungreuc/isotope_correction_toolbox/ {christian.jungreuthmayer@boku.ac.at,juergen.zanghellini@boku.ac.at} Supplementary data are available at Bioinformatics online. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  19. Colorectal Cancer in the Family: Psychosocial Distress and Social Issues in the Years Following Genetic Counselling

    Directory of Open Access Journals (Sweden)

    Bleiker Eveline MA

    2007-06-01

    Full Text Available Abstract Background This study examined: (1 levels of cancer-specific distress more than one year after genetic counselling for hereditary nonpolyposis colorectal cancer (HNPCC; (2 associations between sociodemographic, clinical and psychosocial factors and levels of distress; (3 the impact of genetic counselling on family relationships, and (4 social consequences of genetic counselling. Methods In this cross-sectional study, individuals who had received genetic counselling for HNPCC during 1986–1998 completed a self-report questionnaire by mail. Results 116 individuals (81% response rate completed the questionnaire, on average 4 years after the last counselling session. Of all respondents, 6% had clinically significant levels of cancer-specific distress (Impact of Event Scale, IES. Having had contact with a professional psychosocial worker for cancer risk in the past 10 years was significantly associated with higher levels of current cancer specific distress. Only a minority of the counselees reported any adverse effects of genetic counselling on: communication about genetic counselling with their children (9%, family relationships (5%, obtaining life insurance (8%, choice or change of jobs (2%, and obtaining a mortgage (2%. Conclusion On average, four years after genetic counselling for HNPCC, only a small minority of counselled individuals reports clinically significant levels of distress, or significant family or social problems.

  20. Illustrating, Quantifying, and Correcting for Bias in Post-hoc Analysis of Gene-Based Rare Variant Tests of Association

    Directory of Open Access Journals (Sweden)

    Kelsey E. Grinde

    2017-09-01

    Full Text Available To date, gene-based rare variant testing approaches have focused on aggregating information across sets of variants to maximize statistical power in identifying genes showing significant association with diseases. Beyond identifying genes that are associated with diseases, the identification of causal variant(s in those genes and estimation of their effect is crucial for planning replication studies and characterizing the genetic architecture of the locus. However, we illustrate that straightforward single-marker association statistics can suffer from substantial bias introduced by conditioning on gene-based test significance, due to the phenomenon often referred to as “winner's curse.” We illustrate the ramifications of this bias on variant effect size estimation and variant prioritization/ranking approaches, outline parameters of genetic architecture that affect this bias, and propose a bootstrap resampling method to correct for this bias. We find that our correction method significantly reduces the bias due to winner's curse (average two-fold decrease in bias, p < 2.2 × 10−6 and, consequently, substantially improves mean squared error and variant prioritization/ranking. The method is particularly helpful in adjustment for winner's curse effects when the initial gene-based test has low power and for relatively more common, non-causal variants. Adjustment for winner's curse is recommended for all post-hoc estimation and ranking of variants after a gene-based test. Further work is necessary to continue seeking ways to reduce bias and improve inference in post-hoc analysis of gene-based tests under a wide variety of genetic architectures.